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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

  Error connecting to IGV?   VPS53_chr17_503668_719839  VPS53_chr17_503668_719839 (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 55275
ensemblid ENSG00000141252.21
hgncid 25608
symbol VPS53
name VPS53 subunit of GARP complex
refseq_nuc NM_001128159.3
refseq_prot NP_001121631.1
ensembl_nuc ENST00000437048.7
ensembl_prot ENSP00000401435.2
mane_status MANE Select
chr chr17
start 508668
end 714839
strand -
ver v1.2
region chr17:508668-714839
region5000 chr17:503668-719839
regionname0 VPS53_chr17_508668_714839
regionname5000 VPS53_chr17_503668_719839

ahapid grch38/
chm13v2 		alen total AFR AMR EAS EUR SAS JPT regionname genename aa chr start end
a0001 1/1 832 155 34 39 56 12 12 44 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
a0002 0/0 832 36 1 8 21 1 5 12 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
a0003 0/0 832 30 3 1 22 3 1 20 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
a0004 0/0 832 6 0 0 5 0 1 4 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
a0005 0/0 832 3 0 0 3 0 0 3 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
a0006 0/0 509 1 0 0 1 0 0 1 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
a0007 0/0 832 1 0 0 0 0 1 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839

chapid grch38/
chm13v2 		alen clen total AFR AMR EAS EUR SAS regionname genename cseq chr start end
c0001 0/0 2499 65 26 13 21 0 5 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
c0002 1/1 2499 57 6 14 25 7 3 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
c0003 0/0 2499 35 0 8 21 1 5 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
c0004 0/0 2499 30 3 1 22 3 1 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
c0005 0/0 2499 10 0 0 9 0 1 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
c0006 0/0 2499 10 0 3 1 3 3 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
c0007 0/0 2499 9 0 7 0 2 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
c0008 0/0 2499 6 0 0 5 0 1 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
c0009 0/0 2499 3 0 0 3 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
c0010 0/0 2499 1 1 0 0 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
c0011 0/0 2499 1 0 1 0 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
c0012 0/0 2499 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
c0013 0/0 2499 1 0 0 0 0 1 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
c0014 0/0 2499 1 1 0 0 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
c0015 0/0 2499 1 1 0 0 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
c0016 0/0 2499 1 0 1 0 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839

thapid grch38
chm13v2 		tlen total AFR AMR EAS EUR SAS regionname genename tseq chr start end
t0001 0/0 10591 9 1 2 1 2 3 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
t0002 0/0 11042 9 0 0 8 0 1 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
t0003 0/0 10591 7 1 4 0 2 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
t0004 0/0 10538 6 0 0 6 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
t0005 0/0 10770 5 0 0 5 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
t0006 0/0 10538 5 0 0 5 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
t0007 0/0 10770 4 0 0 4 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
t0008 0/0 10770 4 0 2 2 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
t0009 0/0 10770 4 0 1 3 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
t0010 0/0 10574 3 0 0 3 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
t0011 0/0 11042 3 0 1 0 2 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
t0012 0/0 11042 3 0 3 0 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
t0013 1/0 10591 3 0 0 0 2 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
t0014 0/1 10592 3 0 1 1 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
t0015 0/0 10770 3 0 0 3 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
t0016 0/0 11043 3 0 0 3 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
t0017 0/0 10591 3 0 1 1 1 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
t0018 0/0 11211 3 0 0 2 0 1 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
t0019 0/0 10569 2 0 0 1 0 1 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
t0020 0/0 10672 2 0 0 2 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
t0021 0/0 10871 2 0 0 0 0 2 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
t0022 0/0 10487 2 0 0 2 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
t0023 0/0 11043 2 0 2 0 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
t0024 0/0 10592 2 0 2 0 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
t0025 0/0 10593 2 0 1 1 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
t0026 0/0 10593 2 0 2 0 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
t0027 0/0 10771 2 0 0 2 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
t0028 0/0 11268 2 2 0 0 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
t0029 0/0 11368 2 2 0 0 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
t0030 0/0 11043 2 2 0 0 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
t0031 0/0 10534 2 2 0 0 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
t0032 0/0 11210 2 2 0 0 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
t0033 0/0 11366 2 2 0 0 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
t0034 0/0 11212 2 0 2 0 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
t0035 0/0 10593 2 0 0 1 0 1 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
t0036 0/0 11277 2 0 0 1 1 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
t0037 0/0 11211 2 0 0 2 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
t0038 0/0 10592 2 1 1 0 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
t0039 0/0 10772 1 0 0 0 1 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
t0040 0/0 10840 1 0 1 0 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
t0041 0/0 11212 1 0 1 0 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
t0042 0/0 10607 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
t0043 0/0 10608 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
t0044 0/0 10573 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
t0045 0/0 10569 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
t0046 0/0 10575 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
t0047 0/0 10575 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
t0048 0/0 10771 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
t0049 0/0 10469 1 1 0 0 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
t0050 0/0 11369 1 1 0 0 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
t0051 0/0 10536 1 0 1 0 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
t0052 0/0 10535 1 0 1 0 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
t0053 0/0 10872 1 0 0 0 1 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
t0054 0/0 10526 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
t0055 0/0 10538 1 1 0 0 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
t0056 0/0 10492 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
t0057 0/0 10826 1 0 0 0 1 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
t0058 0/0 10771 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
t0059 0/0 10540 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
t0060 0/0 10494 1 0 0 0 0 1 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
t0061 0/0 10541 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
t0062 0/0 11075 1 0 1 0 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
t0063 0/0 10539 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
t0064 0/0 10590 1 0 0 0 1 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
t0065 0/0 10590 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
t0066 0/0 10590 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
t0067 0/0 10592 1 0 1 0 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
t0068 0/0 10592 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
t0069 0/0 11043 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
t0070 0/0 11043 1 0 1 0 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
t0071 0/0 10637 1 1 0 0 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
t0072 0/0 10591 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
t0073 0/0 10591 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
t0074 0/0 10591 1 0 1 0 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
t0075 0/0 10591 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
t0076 0/0 10591 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
t0077 0/0 10591 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
t0078 0/0 10375 1 1 0 0 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
t0079 0/0 10593 1 0 1 0 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
t0080 0/0 10593 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
t0081 0/0 10526 1 1 0 0 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
t0082 0/0 10592 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
t0083 0/0 10594 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
t0084 0/0 11043 1 1 0 0 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
t0085 0/0 10802 1 0 0 0 0 1 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
t0086 0/0 10769 1 1 0 0 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
t0087 0/0 11368 1 1 0 0 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
t0088 0/0 11370 1 1 0 0 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
t0089 0/0 10608 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
t0090 0/0 10803 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
t0091 0/0 10810 1 0 1 0 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
t0092 0/0 10771 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
t0093 0/0 10771 1 0 1 0 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
t0094 0/0 10770 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
t0095 0/0 11370 1 1 0 0 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
t0096 0/0 11369 1 1 0 0 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
t0097 0/0 11368 1 1 0 0 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
t0098 0/0 10908 1 1 0 0 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
t0099 0/0 10873 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
t0100 0/0 10539 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
t0101 0/0 10540 1 1 0 0 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
t0102 0/0 10507 1 1 0 0 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
t0103 0/0 10538 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
t0104 0/0 10772 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
t0105 0/0 11370 1 0 1 0 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
t0106 0/0 11042 1 1 0 0 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
t0107 0/0 11043 1 0 1 0 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
t0108 0/0 10369 1 0 1 0 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
t0109 0/0 11075 1 0 0 0 1 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
t0110 0/0 11042 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
t0111 0/0 11398 1 1 0 0 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
t0112 0/0 11365 1 1 0 0 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
t0113 0/0 11042 1 0 1 0 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
t0114 0/0 11042 1 0 0 0 0 1 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
t0115 0/0 11042 1 0 0 0 0 1 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
t0116 0/0 11075 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
t0117 0/0 11042 1 0 1 0 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
t0118 0/0 10433 1 0 1 0 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
t0119 0/0 11075 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
t0120 0/0 11011 1 0 0 0 0 1 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
t0121 0/0 11176 1 0 0 0 0 1 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
t0122 0/0 11211 1 0 1 0 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
t0123 0/0 10684 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
t0124 0/0 10684 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
t0125 0/0 10592 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
t0126 0/0 11210 1 1 0 0 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
t0127 0/0 11366 1 1 0 0 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
t0128 0/0 11043 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
t0129 0/0 11076 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
t0130 0/0 11309 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
t0131 0/0 11243 1 0 1 0 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
t0132 0/0 11210 1 0 0 0 0 1 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
t0133 0/0 10591 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
t0134 0/0 10535 1 1 0 0 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
t0135 0/0 10375 1 1 0 0 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
t0136 0/0 11213 1 0 0 0 0 1 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
t0137 0/0 11344 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
t0138 0/0 11212 1 0 1 0 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
t0139 0/0 11212 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
t0140 0/0 11244 1 0 1 0 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
t0141 0/0 11211 1 0 1 0 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
t0142 0/0 10684 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
t0143 0/0 10559 1 0 0 0 1 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
t0144 0/0 11280 1 0 0 0 0 1 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
t0145 0/0 11016 1 0 0 0 0 1 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
t0146 0/0 11213 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
t0147 0/0 11311 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
t0148 0/0 11278 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
t0149 0/0 10593 1 0 0 0 0 1 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
t0150 0/0 10770 1 0 1 0 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839

ghapid grch38/
chm13v2 		total AFR AMR EAS EUR SAS regionname genename chr start end
g0001 0/0 1 0 1 0 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0002 0/0 1 0 1 0 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0003 0/0 1 0 0 0 1 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0004 0/0 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0005 0/0 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0006 0/0 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0007 0/0 1 0 0 0 0 1 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0008 0/0 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0009 0/0 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0010 0/0 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0011 0/0 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0012 0/0 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0013 0/0 1 0 1 0 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0014 0/0 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0015 0/0 1 0 1 0 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0016 0/0 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0017 0/0 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0018 0/0 1 0 0 0 1 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0019 0/0 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0020 0/0 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0021 0/0 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0022 0/0 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0023 0/0 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0024 0/0 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0025 0/0 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0026 0/0 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0027 0/0 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0028 0/0 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0029 0/0 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0030 0/0 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0031 0/0 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0032 0/0 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0033 0/0 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0034 0/0 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0035 0/0 1 1 0 0 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0036 0/0 1 1 0 0 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0037 0/0 1 1 0 0 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0038 0/0 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0039 0/0 1 0 0 0 0 1 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0040 0/0 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0041 0/0 1 1 0 0 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0042 0/0 1 0 0 0 1 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0043 0/0 1 0 0 0 1 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0044 0/0 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0045 0/0 1 0 1 0 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0046 0/0 1 1 0 0 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0047 1/0 1 0 0 0 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0048 0/0 1 1 0 0 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0049 0/0 1 1 0 0 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0050 0/0 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0051 0/0 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0052 0/0 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0053 0/0 1 0 1 0 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0054 0/0 1 0 1 0 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0055 0/1 1 0 0 0 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0056 0/0 1 0 1 0 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0057 0/0 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0058 0/0 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0059 0/0 1 0 1 0 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0060 0/0 1 0 1 0 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0061 0/0 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0062 0/0 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0063 0/0 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0064 0/0 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0065 0/0 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0066 0/0 1 0 0 0 0 1 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0067 0/0 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0068 0/0 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0069 0/0 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0070 0/0 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0071 0/0 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0072 0/0 1 0 1 0 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0073 0/0 1 0 1 0 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0074 0/0 1 0 1 0 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0075 0/0 1 0 1 0 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0076 0/0 1 0 1 0 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0077 0/0 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0078 0/0 1 0 0 0 1 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0079 0/0 1 0 0 0 1 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0080 0/0 1 0 0 0 1 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0081 0/0 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0082 0/0 1 1 0 0 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0083 0/0 1 0 0 0 1 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0084 0/0 1 1 0 0 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0085 0/0 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0086 0/0 1 0 1 0 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0087 0/0 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0088 0/0 1 0 1 0 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0089 0/0 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0090 0/0 1 0 0 0 0 1 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0091 0/0 1 0 1 0 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0092 0/0 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0093 0/0 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0094 0/0 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0095 0/0 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0096 0/0 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0097 0/0 1 0 1 0 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0098 0/0 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0099 0/0 1 0 1 0 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0100 0/0 1 0 0 0 0 1 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0101 0/0 1 0 0 0 0 1 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0102 0/0 1 0 0 0 1 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0103 0/0 1 0 0 0 1 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0104 0/0 1 0 1 0 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0105 0/0 1 0 0 0 1 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0106 0/0 1 0 0 0 1 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0107 0/0 1 0 1 0 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0108 0/0 1 0 1 0 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0109 0/0 1 0 1 0 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0110 0/0 1 0 1 0 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0111 0/0 1 0 1 0 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0112 0/0 1 0 1 0 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0113 0/0 1 0 0 0 0 1 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0114 0/0 1 1 0 0 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0115 0/0 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0116 0/0 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0117 0/0 1 1 0 0 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0118 0/0 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0119 0/0 1 1 0 0 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0120 0/0 1 1 0 0 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0121 0/0 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0122 0/0 1 0 1 0 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0123 0/0 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0124 0/0 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0125 0/0 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0126 0/0 1 0 1 0 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0127 0/0 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0128 0/0 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0129 0/0 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0130 0/0 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0131 0/0 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0132 0/0 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0133 0/0 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0134 0/0 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0135 0/0 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0136 0/0 1 0 0 0 0 1 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0137 0/0 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0138 0/0 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0139 0/0 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0140 0/0 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0141 0/0 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0142 0/0 1 0 0 0 0 1 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0143 0/0 1 0 0 0 0 1 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0144 0/0 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0145 0/0 1 1 0 0 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0146 0/0 1 1 0 0 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0147 0/0 1 1 0 0 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0148 0/0 1 0 1 0 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0149 0/0 1 1 0 0 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0150 0/0 1 1 0 0 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0151 0/0 1 1 0 0 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0152 0/0 1 1 0 0 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0153 0/0 1 1 0 0 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0154 0/0 1 1 0 0 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0155 0/0 1 1 0 0 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0156 0/0 1 1 0 0 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0157 0/0 1 1 0 0 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0158 0/0 1 0 1 0 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0159 0/0 1 1 0 0 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0160 0/0 1 0 1 0 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0161 0/0 1 0 1 0 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0162 0/0 1 0 1 0 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0163 0/0 1 0 0 0 0 1 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0164 0/0 1 1 0 0 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0165 0/0 1 0 1 0 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0166 0/0 1 1 0 0 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0167 0/0 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0168 0/0 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0169 0/0 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0170 0/0 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0171 0/0 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0172 0/0 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0173 0/0 1 0 1 0 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0174 0/0 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0175 0/0 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0176 0/0 1 0 0 0 1 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0177 0/0 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0178 0/0 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0179 0/0 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0180 0/0 1 0 1 0 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0181 0/0 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0182 0/0 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0183 0/0 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0184 0/0 1 0 0 0 0 1 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0185 0/0 1 0 1 0 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0186 0/0 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0187 0/0 1 0 0 0 0 1 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0188 0/0 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0189 0/0 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0190 0/0 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0191 0/0 1 0 1 0 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0192 0/0 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0193 0/0 1 0 1 0 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0194 0/0 1 0 1 0 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0195 0/0 1 0 1 0 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0196 0/0 1 1 0 0 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0197 0/0 1 1 0 0 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0198 0/0 1 1 0 0 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0199 0/0 1 1 0 0 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0200 0/0 1 1 0 0 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0201 0/0 1 0 1 0 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0202 0/0 1 0 0 0 0 1 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0203 0/0 1 0 0 0 0 1 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0204 0/0 1 1 0 0 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0205 0/0 1 1 0 0 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0206 0/0 1 1 0 0 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0207 0/0 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0208 0/0 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0209 0/0 1 0 1 0 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0210 0/0 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0211 0/0 1 0 0 0 0 1 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0212 0/0 1 0 1 0 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0213 0/0 1 0 0 0 0 1 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0214 0/0 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0215 0/0 1 0 0 0 0 1 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0216 0/0 1 0 0 0 0 1 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0217 0/0 1 0 1 0 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0218 0/0 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0219 0/0 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0220 0/0 1 1 0 0 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0221 0/0 1 1 0 0 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0222 0/0 1 0 0 0 1 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0223 0/0 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0224 0/0 1 0 1 0 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0225 0/0 1 0 0 0 1 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0226 0/0 1 0 0 0 1 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0227 0/0 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0228 0/0 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0229 0/0 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0230 0/0 1 0 1 0 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0231 0/0 1 0 0 0 0 1 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
g0232 0/0 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839

achapid grch38/
chm13v2 		alen clen total AFR AMR EAS EUR SAS regionname genename cseq chr start end
a0001c0001 0/0 2499 65 26 13 21 0 5 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
a0001c0002 1/1 2499 57 6 14 25 7 3 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
a0001c0005 0/0 2499 10 0 0 9 0 1 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
a0001c0006 0/0 2499 10 0 3 1 3 3 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
a0001c0007 0/0 2499 9 0 7 0 2 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
a0001c0011 0/0 2499 1 0 1 0 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
a0001c0014 0/0 2499 1 1 0 0 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
a0001c0015 0/0 2499 1 1 0 0 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
a0001c0016 0/0 2499 1 0 1 0 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
a0002c0003 0/0 2499 35 0 8 21 1 5 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
a0002c0010 0/0 2499 1 1 0 0 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
a0003c0004 0/0 2499 30 3 1 22 3 1 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
a0004c0008 0/0 2499 6 0 0 5 0 1 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
a0005c0009 0/0 2499 3 0 0 3 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
a0006c0012 0/0 2499 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
a0007c0013 0/0 2499 1 0 0 0 0 1 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839

acthapid grch38
chm13v2 		tlen total AFR AMR EAS EUR SAS regionname genename tseq chr start end
a0001c0001t0002 0/0 13540 9 0 0 8 0 1 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
a0001c0001t0011 0/0 13540 1 0 1 0 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
a0001c0001t0015 0/0 13268 3 0 0 3 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
a0001c0001t0016 0/0 13541 3 0 0 3 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
a0001c0001t0017 0/0 13089 1 0 1 0 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
a0001c0001t0028 0/0 13766 2 2 0 0 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
a0001c0001t0029 0/0 13866 2 2 0 0 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
a0001c0001t0030 0/0 13541 2 2 0 0 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
a0001c0001t0031 0/0 13032 2 2 0 0 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
a0001c0001t0032 0/0 13708 2 2 0 0 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
a0001c0001t0033 0/0 13864 2 2 0 0 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
a0001c0001t0034 0/0 13710 2 0 2 0 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
a0001c0001t0069 0/0 13541 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
a0001c0001t0084 0/0 13541 1 1 0 0 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
a0001c0001t0087 0/0 13866 1 1 0 0 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
a0001c0001t0088 0/0 13868 1 1 0 0 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
a0001c0001t0094 0/0 13268 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
a0001c0001t0095 0/0 13868 1 1 0 0 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
a0001c0001t0096 0/0 13867 1 1 0 0 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
a0001c0001t0097 0/0 13866 1 1 0 0 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
a0001c0001t0098 0/0 13406 1 1 0 0 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
a0001c0001t0101 0/0 13038 1 1 0 0 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
a0001c0001t0102 0/0 13005 1 1 0 0 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
a0001c0001t0105 0/0 13868 1 0 1 0 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
a0001c0001t0106 0/0 13540 1 1 0 0 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
a0001c0001t0107 0/0 13541 1 0 1 0 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
a0001c0001t0108 0/0 12867 1 0 1 0 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
a0001c0001t0110 0/0 13540 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
a0001c0001t0111 0/0 13896 1 1 0 0 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
a0001c0001t0112 0/0 13863 1 1 0 0 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
a0001c0001t0113 0/0 13540 1 0 1 0 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
a0001c0001t0114 0/0 13540 1 0 0 0 0 1 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
a0001c0001t0115 0/0 13540 1 0 0 0 0 1 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
a0001c0001t0116 0/0 13573 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
a0001c0001t0117 0/0 13540 1 0 1 0 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
a0001c0001t0118 0/0 12931 1 0 1 0 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
a0001c0001t0119 0/0 13573 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
a0001c0001t0120 0/0 13509 1 0 0 0 0 1 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
a0001c0001t0121 0/0 13674 1 0 0 0 0 1 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
a0001c0001t0122 0/0 13709 1 0 1 0 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
a0001c0001t0123 0/0 13182 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
a0001c0001t0127 0/0 13864 1 1 0 0 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
a0001c0001t0128 0/0 13541 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
a0001c0001t0134 0/0 13033 1 1 0 0 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
a0001c0001t0138 0/0 13710 1 0 1 0 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
a0001c0001t0141 0/0 13709 1 0 1 0 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
a0001c0002t0001 0/0 13089 8 1 2 1 2 2 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
a0001c0002t0003 0/0 13089 3 0 3 0 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
a0001c0002t0005 0/0 13268 2 0 0 2 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
a0001c0002t0007 0/0 13268 4 0 0 4 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
a0001c0002t0010 0/0 13072 2 0 0 2 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
a0001c0002t0013 1/0 13089 3 0 0 0 2 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
a0001c0002t0014 0/1 13090 3 0 1 1 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
a0001c0002t0017 0/0 13089 1 0 0 0 1 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
a0001c0002t0022 0/0 12985 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
a0001c0002t0024 0/0 13090 2 0 2 0 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
a0001c0002t0025 0/0 13091 1 0 1 0 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
a0001c0002t0026 0/0 13091 2 0 2 0 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
a0001c0002t0035 0/0 13091 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
a0001c0002t0038 0/0 13090 1 0 1 0 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
a0001c0002t0043 0/0 13106 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
a0001c0002t0048 0/0 13269 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
a0001c0002t0049 0/0 12967 1 1 0 0 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
a0001c0002t0050 0/0 13867 1 1 0 0 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
a0001c0002t0055 0/0 13036 1 1 0 0 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
a0001c0002t0058 0/0 13269 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
a0001c0002t0065 0/0 13088 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
a0001c0002t0066 0/0 13088 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
a0001c0002t0067 0/0 13090 1 0 1 0 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
a0001c0002t0072 0/0 13089 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
a0001c0002t0075 0/0 13089 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
a0001c0002t0076 0/0 13089 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
a0001c0002t0077 0/0 13089 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
a0001c0002t0078 0/0 12873 1 1 0 0 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
a0001c0002t0079 0/0 13091 1 0 1 0 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
a0001c0002t0082 0/0 13090 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
a0001c0002t0083 0/0 13092 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
a0001c0002t0086 0/0 13267 1 1 0 0 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
a0001c0002t0100 0/0 13037 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
a0001c0002t0109 0/0 13573 1 0 0 0 1 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
a0001c0002t0125 0/0 13090 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
a0001c0002t0143 0/0 13057 1 0 0 0 1 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
a0001c0002t0149 0/0 13091 1 0 0 0 0 1 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
a0001c0005t0010 0/0 13072 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
a0001c0005t0019 0/0 13067 2 0 0 1 0 1 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
a0001c0005t0020 0/0 13170 2 0 0 2 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
a0001c0005t0042 0/0 13105 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
a0001c0005t0044 0/0 13071 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
a0001c0005t0045 0/0 13067 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
a0001c0005t0046 0/0 13073 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
a0001c0005t0080 0/0 13091 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
a0001c0006t0001 0/0 13089 1 0 0 0 0 1 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
a0001c0006t0021 0/0 13369 2 0 0 0 0 2 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
a0001c0006t0039 0/0 13270 1 0 0 0 1 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
a0001c0006t0040 0/0 13338 1 0 1 0 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
a0001c0006t0041 0/0 13710 1 0 1 0 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
a0001c0006t0053 0/0 13370 1 0 0 0 1 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
a0001c0006t0057 0/0 13324 1 0 0 0 1 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
a0001c0006t0068 0/0 13090 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
a0001c0006t0074 0/0 13089 1 0 1 0 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
a0001c0007t0011 0/0 13540 2 0 0 0 2 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
a0001c0007t0012 0/0 13540 3 0 3 0 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
a0001c0007t0023 0/0 13541 2 0 2 0 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
a0001c0007t0062 0/0 13573 1 0 1 0 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
a0001c0007t0070 0/0 13541 1 0 1 0 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
a0001c0011t0051 0/0 13034 1 0 1 0 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
a0001c0014t0135 0/0 12873 1 1 0 0 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
a0001c0015t0126 0/0 13708 1 1 0 0 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
a0001c0016t0052 0/0 13033 1 0 1 0 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
a0002c0003t0008 0/0 13268 4 0 2 2 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
a0002c0003t0009 0/0 13268 4 0 1 3 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
a0002c0003t0017 0/0 13089 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
a0002c0003t0018 0/0 13709 3 0 0 2 0 1 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
a0002c0003t0027 0/0 13269 2 0 0 2 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
a0002c0003t0036 0/0 13775 1 0 0 0 1 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
a0002c0003t0037 0/0 13709 2 0 0 2 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
a0002c0003t0073 0/0 13089 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
a0002c0003t0085 0/0 13300 1 0 0 0 0 1 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
a0002c0003t0089 0/0 13106 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
a0002c0003t0090 0/0 13301 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
a0002c0003t0091 0/0 13308 1 0 1 0 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
a0002c0003t0092 0/0 13269 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
a0002c0003t0093 0/0 13269 1 0 1 0 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
a0002c0003t0099 0/0 13371 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
a0002c0003t0104 0/0 13270 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
a0002c0003t0131 0/0 13741 1 0 1 0 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
a0002c0003t0136 0/0 13711 1 0 0 0 0 1 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
a0002c0003t0139 0/0 13710 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
a0002c0003t0140 0/0 13742 1 0 1 0 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
a0002c0003t0144 0/0 13778 1 0 0 0 0 1 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
a0002c0003t0145 0/0 13514 1 0 0 0 0 1 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
a0002c0003t0146 0/0 13711 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
a0002c0003t0148 0/0 13776 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
a0002c0003t0150 0/0 13268 1 0 1 0 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
a0002c0010t0038 0/0 13090 1 1 0 0 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
a0003c0004t0003 0/0 13089 4 1 1 0 2 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
a0003c0004t0004 0/0 13036 6 0 0 6 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
a0003c0004t0005 0/0 13268 3 0 0 3 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
a0003c0004t0006 0/0 13036 5 0 0 5 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
a0003c0004t0022 0/0 12985 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
a0003c0004t0025 0/0 13091 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
a0003c0004t0047 0/0 13073 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
a0003c0004t0054 0/0 13024 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
a0003c0004t0056 0/0 12990 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
a0003c0004t0059 0/0 13038 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
a0003c0004t0060 0/0 12992 1 0 0 0 0 1 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
a0003c0004t0061 0/0 13039 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
a0003c0004t0063 0/0 13037 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
a0003c0004t0064 0/0 13088 1 0 0 0 1 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
a0003c0004t0071 0/0 13135 1 1 0 0 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
a0003c0004t0081 0/0 13024 1 1 0 0 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
a0004c0008t0035 0/0 13091 1 0 0 0 0 1 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
a0004c0008t0036 0/0 13775 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
a0004c0008t0103 0/0 13036 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
a0004c0008t0124 0/0 13182 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
a0004c0008t0133 0/0 13089 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
a0004c0008t0142 0/0 13182 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
a0005c0009t0130 0/0 13807 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
a0005c0009t0137 0/0 13842 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
a0005c0009t0147 0/0 13809 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
a0006c0012t0129 0/0 13574 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839
a0007c0013t0132 0/0 13708 1 0 0 0 0 1 VPS53_chr17_503668_719839 VPS53 copy fasta chr17 503668 719839

actghapid grch38/
chm13v2 		total AFR AMR EAS EUR SAS regionname genename chr start end
a0001c0001t0002g0121 0/0 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0001c0001t0002g0128 0/0 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0001c0001t0002g0133 0/0 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0001c0001t0002g0134 0/0 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0001c0001t0002g0137 0/0 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0001c0001t0002g0139 0/0 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0001c0001t0002g0141 0/0 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0001c0001t0002g0210 0/0 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0001c0001t0002g0213 0/0 1 0 0 0 0 1 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0001c0001t0011g0013 0/0 1 0 1 0 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0001c0001t0015g0130 0/0 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0001c0001t0015g0131 0/0 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0001c0001t0015g0135 0/0 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0001c0001t0016g0118 0/0 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0001c0001t0016g0124 0/0 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0001c0001t0016g0125 0/0 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0001c0001t0017g0158 0/0 1 0 1 0 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0001c0001t0028g0196 0/0 1 1 0 0 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0001c0001t0028g0197 0/0 1 1 0 0 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0001c0001t0029g0150 0/0 1 1 0 0 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0001c0001t0029g0151 0/0 1 1 0 0 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0001c0001t0030g0119 0/0 1 1 0 0 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0001c0001t0030g0120 0/0 1 1 0 0 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0001c0001t0031g0153 0/0 1 1 0 0 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0001c0001t0031g0155 0/0 1 1 0 0 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0001c0001t0032g0114 0/0 1 1 0 0 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0001c0001t0032g0204 0/0 1 1 0 0 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0001c0001t0033g0205 0/0 1 1 0 0 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0001c0001t0033g0206 0/0 1 1 0 0 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0001c0001t0034g0126 0/0 1 0 1 0 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0001c0001t0034g0162 0/0 1 0 1 0 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0001c0001t0069g0012 0/0 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0001c0001t0084g0046 0/0 1 1 0 0 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0001c0001t0087g0198 0/0 1 1 0 0 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0001c0001t0088g0152 0/0 1 1 0 0 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0001c0001t0094g0129 0/0 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0001c0001t0095g0145 0/0 1 1 0 0 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0001c0001t0096g0146 0/0 1 1 0 0 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0001c0001t0097g0199 0/0 1 1 0 0 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0001c0001t0098g0147 0/0 1 1 0 0 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0001c0001t0101g0200 0/0 1 1 0 0 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0001c0001t0102g0220 0/0 1 1 0 0 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0001c0001t0105g0201 0/0 1 0 1 0 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0001c0001t0106g0117 0/0 1 1 0 0 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0001c0001t0107g0212 0/0 1 0 1 0 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0001c0001t0108g0148 0/0 1 0 1 0 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0001c0001t0110g0127 0/0 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0001c0001t0111g0164 0/0 1 1 0 0 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0001c0001t0112g0157 0/0 1 1 0 0 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0001c0001t0113g0122 0/0 1 0 1 0 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0001c0001t0114g0142 0/0 1 0 0 0 0 1 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0001c0001t0115g0136 0/0 1 0 0 0 0 1 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0001c0001t0116g0138 0/0 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0001c0001t0117g0230 0/0 1 0 1 0 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0001c0001t0118g0195 0/0 1 0 1 0 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0001c0001t0119g0144 0/0 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0001c0001t0120g0211 0/0 1 0 0 0 0 1 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0001c0001t0121g0143 0/0 1 0 0 0 0 1 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0001c0001t0122g0160 0/0 1 0 1 0 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0001c0001t0123g0123 0/0 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0001c0001t0127g0159 0/0 1 1 0 0 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0001c0001t0128g0132 0/0 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0001c0001t0134g0154 0/0 1 1 0 0 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0001c0001t0138g0161 0/0 1 0 1 0 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0001c0001t0141g0165 0/0 1 0 1 0 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0001c0002t0001g0045 0/0 1 0 1 0 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0001c0002t0001g0056 0/0 1 0 1 0 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0001c0002t0001g0066 0/0 1 0 0 0 0 1 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0001c0002t0001g0079 0/0 1 0 0 0 1 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0001c0002t0001g0080 0/0 1 0 0 0 1 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0001c0002t0001g0082 0/0 1 1 0 0 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0001c0002t0001g0090 0/0 1 0 0 0 0 1 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0001c0002t0001g0094 0/0 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0001c0002t0003g0053 0/0 1 0 1 0 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0001c0002t0003g0054 0/0 1 0 1 0 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0001c0002t0003g0072 0/0 1 0 1 0 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0001c0002t0005g0061 0/0 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0001c0002t0005g0065 0/0 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0001c0002t0007g0058 0/0 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0001c0002t0007g0062 0/0 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0001c0002t0007g0063 0/0 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0001c0002t0007g0081 0/0 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0001c0002t0010g0057 0/0 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0001c0002t0010g0087 0/0 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0001c0002t0013g0047 1/0 1 0 0 0 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0001c0002t0013g0078 0/0 1 0 0 0 1 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0001c0002t0013g0083 0/0 1 0 0 0 1 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0001c0002t0014g0055 0/1 1 0 0 0 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0001c0002t0014g0074 0/0 1 0 1 0 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0001c0002t0014g0077 0/0 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0001c0002t0017g0225 0/0 1 0 0 0 1 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0001c0002t0022g0085 0/0 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0001c0002t0024g0073 0/0 1 0 1 0 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0001c0002t0024g0088 0/0 1 0 1 0 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0001c0002t0025g0075 0/0 1 0 1 0 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0001c0002t0026g0059 0/0 1 0 1 0 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0001c0002t0026g0060 0/0 1 0 1 0 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0001c0002t0035g0219 0/0 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0001c0002t0038g0224 0/0 1 0 1 0 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0001c0002t0043g0064 0/0 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0001c0002t0048g0089 0/0 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0001c0002t0049g0048 0/0 1 1 0 0 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0001c0002t0050g0049 0/0 1 1 0 0 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0001c0002t0055g0084 0/0 1 1 0 0 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0001c0002t0058g0052 0/0 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0001c0002t0065g0093 0/0 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0001c0002t0066g0070 0/0 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0001c0002t0067g0076 0/0 1 0 1 0 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0001c0002t0072g0071 0/0 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0001c0002t0075g0051 0/0 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0001c0002t0076g0050 0/0 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0001c0002t0077g0095 0/0 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0001c0002t0078g0041 0/0 1 1 0 0 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0001c0002t0079g0086 0/0 1 0 1 0 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0001c0002t0082g0069 0/0 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0001c0002t0083g0067 0/0 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0001c0002t0086g0221 0/0 1 1 0 0 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0001c0002t0100g0223 0/0 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0001c0002t0109g0222 0/0 1 0 0 0 1 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0001c0002t0125g0116 0/0 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0001c0002t0143g0226 0/0 1 0 0 0 1 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0001c0002t0149g0202 0/0 1 0 0 0 0 1 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0001c0005t0010g0008 0/0 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0001c0005t0019g0006 0/0 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0001c0005t0019g0007 0/0 1 0 0 0 0 1 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0001c0005t0020g0005 0/0 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0001c0005t0020g0010 0/0 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0001c0005t0042g0044 0/0 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0001c0005t0044g0096 0/0 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0001c0005t0045g0009 0/0 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0001c0005t0046g0011 0/0 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0001c0005t0080g0092 0/0 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0001c0006t0001g0113 0/0 1 0 0 0 0 1 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0001c0006t0021g0100 0/0 1 0 0 0 0 1 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0001c0006t0021g0101 0/0 1 0 0 0 0 1 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0001c0006t0039g0003 0/0 1 0 0 0 1 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0001c0006t0040g0002 0/0 1 0 1 0 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0001c0006t0041g0001 0/0 1 0 1 0 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0001c0006t0053g0102 0/0 1 0 0 0 1 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0001c0006t0057g0103 0/0 1 0 0 0 1 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0001c0006t0068g0098 0/0 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0001c0006t0074g0097 0/0 1 0 1 0 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0001c0007t0011g0105 0/0 1 0 0 0 1 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0001c0007t0011g0106 0/0 1 0 0 0 1 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0001c0007t0012g0108 0/0 1 0 1 0 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0001c0007t0012g0110 0/0 1 0 1 0 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0001c0007t0012g0111 0/0 1 0 1 0 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0001c0007t0023g0107 0/0 1 0 1 0 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0001c0007t0023g0109 0/0 1 0 1 0 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0001c0007t0062g0104 0/0 1 0 1 0 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0001c0007t0070g0112 0/0 1 0 1 0 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0001c0011t0051g0091 0/0 1 0 1 0 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0001c0014t0135g0166 0/0 1 1 0 0 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0001c0015t0126g0149 0/0 1 1 0 0 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0001c0016t0052g0099 0/0 1 0 1 0 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0002c0003t0008g0180 0/0 1 0 1 0 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0002c0003t0008g0182 0/0 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0002c0003t0008g0183 0/0 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0002c0003t0008g0217 0/0 1 0 1 0 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0002c0003t0009g0185 0/0 1 0 1 0 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0002c0003t0009g0186 0/0 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0002c0003t0009g0188 0/0 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0002c0003t0009g0218 0/0 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0002c0003t0017g0179 0/0 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0002c0003t0018g0172 0/0 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0002c0003t0018g0214 0/0 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0002c0003t0018g0231 0/0 1 0 0 0 0 1 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0002c0003t0027g0169 0/0 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0002c0003t0027g0181 0/0 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0002c0003t0036g0176 0/0 1 0 0 0 1 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0002c0003t0037g0115 0/0 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0002c0003t0037g0168 0/0 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0002c0003t0073g0068 0/0 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0002c0003t0085g0184 0/0 1 0 0 0 0 1 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0002c0003t0089g0175 0/0 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0002c0003t0090g0171 0/0 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0002c0003t0091g0209 0/0 1 0 1 0 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0002c0003t0092g0190 0/0 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0002c0003t0093g0173 0/0 1 0 1 0 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0002c0003t0099g0192 0/0 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0002c0003t0104g0208 0/0 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0002c0003t0131g0193 0/0 1 0 1 0 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0002c0003t0136g0216 0/0 1 0 0 0 0 1 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0002c0003t0139g0167 0/0 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0002c0003t0140g0194 0/0 1 0 1 0 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0002c0003t0144g0215 0/0 1 0 0 0 0 1 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0002c0003t0145g0187 0/0 1 0 0 0 0 1 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0002c0003t0146g0170 0/0 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0002c0003t0148g0174 0/0 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0002c0003t0150g0191 0/0 1 0 1 0 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0002c0010t0038g0156 0/0 1 1 0 0 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0003c0004t0003g0015 0/0 1 0 1 0 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0003c0004t0003g0018 0/0 1 0 0 0 1 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0003c0004t0003g0036 0/0 1 1 0 0 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0003c0004t0003g0043 0/0 1 0 0 0 1 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0003c0004t0004g0014 0/0 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0003c0004t0004g0019 0/0 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0003c0004t0004g0021 0/0 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0003c0004t0004g0025 0/0 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0003c0004t0004g0026 0/0 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0003c0004t0004g0040 0/0 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0003c0004t0005g0027 0/0 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0003c0004t0005g0028 0/0 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0003c0004t0005g0030 0/0 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0003c0004t0006g0016 0/0 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0003c0004t0006g0022 0/0 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0003c0004t0006g0023 0/0 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0003c0004t0006g0024 0/0 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0003c0004t0006g0033 0/0 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0003c0004t0022g0004 0/0 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0003c0004t0025g0038 0/0 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0003c0004t0047g0017 0/0 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0003c0004t0054g0032 0/0 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0003c0004t0056g0020 0/0 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0003c0004t0059g0029 0/0 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0003c0004t0060g0039 0/0 1 0 0 0 0 1 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0003c0004t0061g0031 0/0 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0003c0004t0063g0034 0/0 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0003c0004t0064g0042 0/0 1 0 0 0 1 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0003c0004t0071g0037 0/0 1 1 0 0 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0003c0004t0081g0035 0/0 1 1 0 0 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0004c0008t0035g0203 0/0 1 0 0 0 0 1 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0004c0008t0036g0207 0/0 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0004c0008t0103g0227 0/0 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0004c0008t0124g0229 0/0 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0004c0008t0133g0232 0/0 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0004c0008t0142g0228 0/0 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0005c0009t0130g0178 0/0 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0005c0009t0137g0189 0/0 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0005c0009t0147g0177 0/0 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0006c0012t0129g0140 0/0 1 0 0 1 0 0 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
a0007c0013t0132g0163 0/0 1 0 0 0 0 1 VPS53_chr17_503668_719839 VPS53 chr17 503668 719839

sampleid ID
haplotypeid
 ahapid chapid thapid ghapid gpopname popname regionname genename chr start end
HG00099 hp1 a0001 c0002 t0109 g0222 EUR GBR VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
HG00099 hp2 a0001 c0006 t0053 g0102 EUR GBR VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
HG00140 hp1 a0001 c0002 t0143 g0226 EUR GBR VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
HG00140 hp2 a0001 c0002 t0013 g0078 EUR GBR VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
HG00280 hp1 a0001 c0002 t0001 g0079 EUR FIN VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
HG00280 hp2 a0001 c0006 t0057 g0103 EUR FIN VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
HG00323 hp1 a0001 c0002 t0001 g0080 EUR FIN VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
HG00323 hp2 a0002 c0003 t0036 g0176 EUR FIN VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
HG00423 hp1 a0004 c0008 t0036 g0207 EAS CHS VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
HG00423 hp2 a0001 c0001 t0015 g0130 EAS CHS VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
HG00438 hp1 a0001 c0002 t0035 g0219 EAS CHS VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
HG00438 hp2 a0002 c0003 t0099 g0192 EAS CHS VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
HG00621 hp1 a0002 c0003 t0018 g0214 EAS CHS VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
HG00621 hp2 a0001 c0002 t0083 g0067 EAS CHS VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
HG00741 hp1 a0001 c0001 t0017 g0158 AMR PUR VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
HG00741 hp2 a0001 c0001 t0113 g0122 AMR PUR VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
HG01070 hp1 a0001 c0002 t0001 g0045 AMR PUR VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
HG01070 hp2 a0002 c0003 t0131 g0193 AMR PUR VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
HG01071 hp1 a0002 c0003 t0140 g0194 AMR PUR VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
HG01071 hp2 a0001 c0002 t0003 g0054 AMR PUR VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
HG01074 hp1 a0001 c0002 t0003 g0053 AMR PUR VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
HG01074 hp2 a0001 c0011 t0051 g0091 AMR PUR VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
HG01081 hp1 a0001 c0002 t0003 g0072 AMR PUR VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
HG01081 hp2 a0001 c0001 t0117 g0230 AMR PUR VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
HG01099 hp1 a0002 c0003 t0008 g0217 AMR PUR VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
HG01099 hp2 a0001 c0006 t0074 g0097 AMR PUR VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
HG01106 hp1 a0001 c0002 t0079 g0086 AMR PUR VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
HG01106 hp2 a0001 c0001 t0034 g0162 AMR PUR VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
HG01109 hp1 a0001 c0001 t0141 g0165 AMR PUR VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
HG01109 hp2 a0001 c0001 t0105 g0201 AMR PUR VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
HG01167 hp1 a0002 c0003 t0093 g0173 AMR PUR VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
HG01167 hp2 a0001 c0002 t0001 g0056 AMR PUR VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
HG01168 hp1 a0001 c0002 t0067 g0076 AMR PUR VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
HG01168 hp2 a0001 c0016 t0052 g0099 AMR PUR VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
HG01175 hp1 a0001 c0006 t0041 g0001 AMR PUR VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
HG01175 hp2 a0001 c0007 t0070 g0112 AMR PUR VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
HG01192 hp1 a0001 c0001 t0108 g0148 AMR PUR VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
HG01192 hp2 a0001 c0007 t0023 g0109 AMR PUR VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
HG01255 hp1 a0001 c0002 t0014 g0074 AMR CLM VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
HG01255 hp2 a0001 c0001 t0107 g0212 AMR CLM VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
HG01256 hp1 a0001 c0002 t0026 g0059 AMR CLM VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
HG01256 hp2 a0001 c0001 t0034 g0126 AMR CLM VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
HG01257 hp1 a0001 c0001 t0122 g0160 AMR CLM VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
HG01257 hp2 a0003 c0004 t0003 g0015 AMR CLM VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
HG01258 hp1 a0001 c0002 t0026 g0060 AMR CLM VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
HG01258 hp2 a0001 c0001 t0138 g0161 AMR CLM VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
HG01346 hp1 a0001 c0002 t0038 g0224 AMR CLM VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
HG01346 hp2 a0001 c0001 t0118 g0195 AMR CLM VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
HG01361 hp1 a0001 c0002 t0024 g0088 AMR CLM VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
HG01361 hp2 a0001 c0001 t0011 g0013 AMR CLM VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
HG01496 hp1 a0001 c0002 t0024 g0073 AMR CLM VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
HG01496 hp2 a0001 c0007 t0012 g0108 AMR CLM VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
HG01515 hp1 a0001 c0007 t0011 g0106 EUR IBS VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
HG01515 hp2 a0001 c0006 t0039 g0003 EUR IBS VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
HG01516 hp1 a0001 c0002 t0017 g0225 EUR IBS VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
HG01516 hp2 a0003 c0004 t0003 g0043 EUR IBS VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
HG01517 hp1 a0003 c0004 t0064 g0042 EUR IBS VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
HG01517 hp2 a0001 c0007 t0011 g0105 EUR IBS VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
HG01884 hp1 a0001 c0001 t0088 g0152 AFR ACB VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
HG01884 hp2 a0001 c0001 t0030 g0120 AFR ACB VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
HG01891 hp1 a0001 c0001 t0127 g0159 AFR ACB VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
HG01891 hp2 a0001 c0001 t0031 g0155 AFR ACB VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
HG01928 hp1 a0002 c0003 t0009 g0185 AMR PEL VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
HG01928 hp2 a0001 c0007 t0023 g0107 AMR PEL VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
HG01978 hp1 a0001 c0002 t0025 g0075 AMR PEL VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
HG01978 hp2 a0001 c0007 t0012 g0111 AMR PEL VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
HG01981 hp1 a0002 c0003 t0150 g0191 AMR PEL VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
HG01981 hp2 a0001 c0006 t0040 g0002 AMR PEL VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
HG02040 hp1 a0002 c0003 t0009 g0186 EAS KHV VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
HG02040 hp2 a0001 c0001 t0002 g0133 EAS KHV VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
HG02056 hp1 a0002 c0003 t0009 g0218 EAS KHV VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
HG02056 hp2 a0001 c0001 t0128 g0132 EAS KHV VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
HG02074 hp1 a0003 c0004 t0004 g0019 EAS KHV VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
HG02074 hp2 a0002 c0003 t0089 g0175 EAS KHV VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
HG02083 hp1 a0002 c0003 t0008 g0182 EAS KHV VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
HG02083 hp2 a0001 c0001 t0002 g0134 EAS KHV VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
HG02129 hp1 a0002 c0003 t0018 g0172 EAS KHV VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
HG02129 hp2 a0001 c0001 t0002 g0128 EAS KHV VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
HG02132 hp1 a0002 c0003 t0037 g0168 EAS KHV VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
HG02132 hp2 a0001 c0001 t0016 g0125 EAS KHV VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
HG02135 hp1 a0001 c0002 t0005 g0061 EAS KHV VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
HG02135 hp2 a0001 c0005 t0045 g0009 EAS KHV VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
HG02145 hp1 a0001 c0002 t0086 g0221 AFR ACB VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
HG02145 hp2 a0001 c0002 t0049 g0048 AFR ACB VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
HG02280 hp1 a0001 c0002 t0050 g0049 AFR ACB VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
HG02280 hp2 a0001 c0001 t0030 g0119 AFR ACB VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
HG02293 hp1 a0002 c0003 t0008 g0180 AMR PEL VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
HG02293 hp2 a0001 c0007 t0062 g0104 AMR PEL VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
HG02300 hp1 a0002 c0003 t0091 g0209 AMR PEL VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
HG02300 hp2 a0001 c0007 t0012 g0110 AMR PEL VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
HG02572 hp1 a0001 c0014 t0135 g0166 AFR GWD VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
HG02572 hp2 a0001 c0001 t0102 g0220 AFR GWD VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
HG02602 hp1 a0001 c0005 t0019 g0007 SAS PJL VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
HG02602 hp2 a0001 c0001 t0114 g0142 SAS PJL VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
HG02622 hp1 a0001 c0001 t0028 g0197 AFR GWD VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
HG02622 hp2 a0001 c0001 t0029 g0151 AFR GWD VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
HG02723 hp1 a0001 c0015 t0126 g0149 AFR GWD VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
HG02723 hp2 a0001 c0001 t0028 g0196 AFR GWD VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
HG02738 hp1 a0001 c0002 t0001 g0090 SAS PJL VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
HG02738 hp2 a0002 c0003 t0144 g0215 SAS PJL VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
HG02818 hp1 a0001 c0001 t0087 g0198 AFR GWD VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
HG02818 hp2 a0001 c0001 t0098 g0147 AFR GWD VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
HG02886 hp1 a0001 c0002 t0001 g0082 AFR GWD VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
HG02886 hp2 a0001 c0001 t0033 g0205 AFR GWD VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
HG02895 hp1 a0001 c0001 t0032 g0114 AFR GWD VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
HG02895 hp2 a0001 c0001 t0111 g0164 AFR GWD VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
HG02922 hp1 a0001 c0001 t0032 g0204 AFR ESN VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
HG02922 hp2 a0001 c0001 t0097 g0199 AFR ESN VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
HG03139 hp1 a0001 c0001 t0101 g0200 AFR ESN VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
HG03139 hp2 a0001 c0001 t0029 g0150 AFR ESN VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
HG03225 hp1 a0001 c0001 t0033 g0206 AFR MSL VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
HG03225 hp2 a0001 c0001 t0096 g0146 AFR MSL VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
HG03491 hp1 a0001 c0006 t0021 g0101 SAS PJL VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
HG03491 hp2 a0002 c0003 t0085 g0184 SAS PJL VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
HG03492 hp1 a0001 c0006 t0021 g0100 SAS PJL VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
HG03492 hp2 a0001 c0001 t0115 g0136 SAS PJL VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
HG03516 hp1 a0001 c0001 t0084 g0046 AFR ESN VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
HG03516 hp2 a0001 c0002 t0078 g0041 AFR ESN VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
HG03688 hp1 a0001 c0006 t0001 g0113 SAS STU VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
HG03688 hp2 a0001 c0001 t0002 g0213 SAS STU VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
HG03831 hp1 a0002 c0003 t0136 g0216 SAS BEB VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
HG03831 hp2 a0003 c0004 t0060 g0039 SAS BEB VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
HG03942 hp1 a0002 c0003 t0018 g0231 SAS BEB VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
HG03942 hp2 a0001 c0002 t0149 g0202 SAS BEB VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
HG04184 hp1 a0004 c0008 t0035 g0203 SAS BEB VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
HG04184 hp2 a0001 c0001 t0120 g0211 SAS BEB VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
HG04199 hp1 a0002 c0003 t0145 g0187 SAS STU VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
HG04199 hp2 a0001 c0001 t0121 g0143 SAS STU VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
HG04204 hp1 a0007 c0013 t0132 g0163 SAS STU VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
HG04204 hp2 a0001 c0002 t0001 g0066 SAS STU VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
NA18612 hp1 a0002 c0003 t0090 g0171 EAS CHB VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
NA18612 hp2 a0003 c0004 t0004 g0025 EAS CHB VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
NA18747 hp1 a0001 c0005 t0010 g0008 EAS CHB VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
NA18747 hp2 a0001 c0002 t0001 g0094 EAS CHB VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
NA18906 hp1 a0003 c0004 t0071 g0037 AFR YRI VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
NA18906 hp2 a0001 c0002 t0055 g0084 AFR YRI VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
NA18940 hp1 a0001 c0002 t0022 g0085 EAS JPT VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
NA18940 hp2 a0001 c0001 t0002 g0210 EAS JPT VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
NA18944 hp1 a0001 c0002 t0043 g0064 EAS JPT VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
NA18944 hp2 a0001 c0002 t0100 g0223 EAS JPT VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
NA18945 hp1 a0003 c0004 t0005 g0028 EAS JPT VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
NA18945 hp2 a0001 c0001 t0116 g0138 EAS JPT VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
NA18946 hp1 a0005 c0009 t0130 g0178 EAS JPT VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
NA18946 hp2 a0001 c0002 t0066 g0070 EAS JPT VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
NA18948 hp1 a0001 c0006 t0068 g0098 EAS JPT VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
NA18948 hp2 a0001 c0002 t0005 g0065 EAS JPT VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
NA18950 hp1 a0001 c0001 t0094 g0129 EAS JPT VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
NA18950 hp2 a0003 c0004 t0006 g0033 EAS JPT VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
NA18957 hp1 a0003 c0004 t0004 g0014 EAS JPT VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
NA18957 hp2 a0002 c0003 t0017 g0179 EAS JPT VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
NA18959 hp1 a0003 c0004 t0006 g0024 EAS JPT VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
NA18959 hp2 a0001 c0002 t0007 g0062 EAS JPT VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
NA18960 hp1 a0001 c0002 t0072 g0071 EAS JPT VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
NA18960 hp2 a0001 c0005 t0044 g0096 EAS JPT VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
NA18961 hp1 a0001 c0001 t0015 g0135 EAS JPT VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
NA18961 hp2 a0003 c0004 t0022 g0004 EAS JPT VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
NA18962 hp1 a0003 c0004 t0006 g0016 EAS JPT VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
NA18962 hp2 a0001 c0002 t0007 g0063 EAS JPT VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
NA18967 hp1 a0001 c0002 t0014 g0077 EAS JPT VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
NA18967 hp2 a0001 c0001 t0016 g0118 EAS JPT VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
NA18973 hp1 a0001 c0002 t0076 g0050 EAS JPT VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
NA18973 hp2 a0004 c0008 t0103 g0227 EAS JPT VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
NA18977 hp1 a0003 c0004 t0006 g0022 EAS JPT VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
NA18977 hp2 a0001 c0002 t0082 g0069 EAS JPT VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
NA18978 hp1 a0003 c0004 t0061 g0031 EAS JPT VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
NA18978 hp2 a0006 c0012 t0129 g0140 EAS JPT VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
NA18979 hp1 a0001 c0002 t0058 g0052 EAS JPT VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
NA18979 hp2 a0002 c0003 t0148 g0174 EAS JPT VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
NA18983 hp1 a0002 c0003 t0139 g0167 EAS JPT VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
NA18983 hp2 a0001 c0001 t0002 g0121 EAS JPT VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
NA18984 hp1 a0003 c0004 t0004 g0040 EAS JPT VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
NA18984 hp2 a0001 c0002 t0065 g0093 EAS JPT VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
NA18986 hp1 a0002 c0003 t0037 g0115 EAS JPT VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
NA18986 hp2 a0003 c0004 t0006 g0023 EAS JPT VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
NA18987 hp1 a0002 c0003 t0104 g0208 EAS JPT VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
NA18987 hp2 a0001 c0001 t0119 g0144 EAS JPT VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
NA18990 hp1 a0003 c0004 t0004 g0026 EAS JPT VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
NA18990 hp2 a0004 c0008 t0124 g0229 EAS JPT VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
NA18994 hp1 a0003 c0004 t0047 g0017 EAS JPT VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
NA18994 hp2 a0001 c0005 t0046 g0011 EAS JPT VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
NA19000 hp1 a0002 c0003 t0027 g0169 EAS JPT VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
NA19000 hp2 a0001 c0005 t0042 g0044 EAS JPT VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
NA19007 hp1 a0001 c0002 t0007 g0058 EAS JPT VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
NA19007 hp2 a0001 c0002 t0125 g0116 EAS JPT VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
NA19009 hp1 a0001 c0002 t0010 g0057 EAS JPT VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
NA19009 hp2 a0001 c0001 t0002 g0137 EAS JPT VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
NA19010 hp1 a0002 c0003 t0008 g0183 EAS JPT VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
NA19010 hp2 a0001 c0005 t0019 g0006 EAS JPT VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
NA19011 hp1 a0004 c0008 t0133 g0232 EAS JPT VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
NA19011 hp2 a0003 c0004 t0004 g0021 EAS JPT VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
NA19060 hp1 a0003 c0004 t0005 g0030 EAS JPT VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
NA19060 hp2 a0001 c0001 t0015 g0131 EAS JPT VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
NA19064 hp1 a0003 c0004 t0063 g0034 EAS JPT VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
NA19064 hp2 a0001 c0002 t0077 g0095 EAS JPT VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
NA19065 hp1 a0001 c0002 t0007 g0081 EAS JPT VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
NA19065 hp2 a0001 c0001 t0110 g0127 EAS JPT VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
NA19066 hp1 a0004 c0008 t0142 g0228 EAS JPT VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
NA19066 hp2 a0005 c0009 t0147 g0177 EAS JPT VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
NA19068 hp1 a0003 c0004 t0025 g0038 EAS JPT VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
NA19068 hp2 a0001 c0001 t0016 g0124 EAS JPT VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
NA19070 hp1 a0001 c0002 t0075 g0051 EAS JPT VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
NA19070 hp2 a0001 c0001 t0002 g0139 EAS JPT VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
NA19074 hp1 a0002 c0003 t0027 g0181 EAS JPT VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
NA19074 hp2 a0001 c0001 t0002 g0141 EAS JPT VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
NA19079 hp1 a0002 c0003 t0073 g0068 EAS JPT VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
NA19079 hp2 a0001 c0001 t0069 g0012 EAS JPT VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
NA19080 hp1 a0003 c0004 t0056 g0020 EAS JPT VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
NA19080 hp2 a0002 c0003 t0009 g0188 EAS JPT VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
NA19081 hp1 a0003 c0004 t0005 g0027 EAS JPT VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
NA19081 hp2 a0001 c0001 t0123 g0123 EAS JPT VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
NA19084 hp1 a0001 c0002 t0010 g0087 EAS JPT VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
NA19084 hp2 a0002 c0003 t0092 g0190 EAS JPT VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
NA19087 hp1 a0001 c0005 t0020 g0005 EAS JPT VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
NA19087 hp2 a0003 c0004 t0054 g0032 EAS JPT VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
NA19090 hp1 a0001 c0002 t0048 g0089 EAS JPT VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
NA19090 hp2 a0002 c0003 t0146 g0170 EAS JPT VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
NA19091 hp1 a0001 c0005 t0020 g0010 EAS JPT VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
NA19091 hp2 a0003 c0004 t0059 g0029 EAS JPT VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
NA20129 hp1 a0001 c0001 t0112 g0157 AFR ASW VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
NA20129 hp2 a0001 c0001 t0031 g0153 AFR ASW VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
NA20805 hp1 a0003 c0004 t0003 g0018 EUR TSI VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
NA20805 hp2 a0001 c0002 t0013 g0083 EUR TSI VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
HG02109 hp1 a0003 c0004 t0003 g0036 AFR ACB VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
HG02109 hp2 a0001 c0001 t0106 g0117 AFR ACB VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
NA18955 hp1 a0005 c0009 t0137 g0189 EAS JPT VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
NA18955 hp2 a0001 c0005 t0080 g0092 EAS JPT VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
NA20300 hp1 a0001 c0001 t0134 g0154 AFR USA VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
NA20300 hp2 a0001 c0001 t0095 g0145 AFR USA VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
NA21309 hp1 a0002 c0010 t0038 g0156 AFR LWK VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
NA21309 hp2 a0003 c0004 t0081 g0035 AFR LWK VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
homoSapiens_chm13v2 hp1 a0001 c0002 t0014 g0055 REF REF VPS53_chr17_503668_719839 VPS53 chr17 503668 719839
homoSapiens_grch38 hp1 a0001 c0002 t0013 g0047 REF REF VPS53_chr17_503668_719839 VPS53 chr17 503668 719839

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
chr17:532865 T
T
 C
C
 1 a0007
a0007
 1 HG04204.hp1
HG04204.hp1
 missense_variant MODERATE c.2062A>G
c.2062A>G
 p.Ile688Val
p.Ile688Val
 VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 19/22 2192/13089 2062/2499 688/832 chr17 532865
chr17:562529 C
C
 T
T
 1 a0006
a0006
 1 NA18978.hp2
NA18978.hp2
 stop_gained HIGH c.1530G>A
c.1530G>A
 p.Trp510*
p.Trp510*
 VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 14/22 1660/13089 1530/2499 510/832 chr17 562529
chr17:601865 T
T
 C
C
 1 a0004
a0004
 6 HG00423.hp1
HG04184.hp1
NA18973.hp2
others(3): Show 
HG00423.hp1
HG04184.hp1
NA18973.hp2
NA18990.hp2
NA19011.hp1
NA19066.hp1
 missense_variant MODERATE c.1148A>G
c.1148A>G
 p.Asn383Ser
p.Asn383Ser
 VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/22 1278/13089 1148/2499 383/832 chr17 601865
chr17:601889 A
A
 C
C
 2 a0002
a0005
a0002
a0005
 39 HG00323.hp2
HG00438.hp2
HG00621.hp1
others(36): Show 
HG00323.hp2
HG00438.hp2
HG00621.hp1
HG01070.hp2
HG01071.hp1
HG01099.hp1
HG01167.hp1
HG01928.hp1
HG01981.hp1
HG02040.hp1
HG02056.hp1
HG02074.hp2
HG02083.hp1
HG02129.hp1
HG02132.hp1
HG02293.hp1
HG02300.hp1
HG02738.hp2
HG03491.hp2
HG03831.hp1
HG03942.hp1
HG04199.hp1
NA18612.hp1
NA18946.hp1
NA18955.hp1
NA18957.hp2
NA18979.hp2
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA19000.hp1
NA19010.hp1
NA19066.hp2
NA19074.hp1
NA19079.hp1
NA19080.hp2
NA19084.hp2
NA19090.hp2
NA21309.hp1
 missense_variant MODERATE c.1124T>G
c.1124T>G
 p.Leu375Arg
p.Leu375Arg
 VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/22 1254/13089 1124/2499 375/832 chr17 601889
chr17:623667 G
G
 T
T
 1 a0003
a0003
 30 HG01257.hp2
HG01516.hp2
HG01517.hp1
others(27): Show 
HG01257.hp2
HG01516.hp2
HG01517.hp1
HG02074.hp1
HG02109.hp1
HG03831.hp2
NA18612.hp2
NA18906.hp1
NA18945.hp1
NA18950.hp2
NA18957.hp1
NA18959.hp1
NA18961.hp2
NA18962.hp1
NA18977.hp1
NA18978.hp1
NA18984.hp1
NA18986.hp2
NA18990.hp1
NA18994.hp1
NA19011.hp2
NA19060.hp1
NA19064.hp1
NA19068.hp1
NA19080.hp1
NA19081.hp1
NA19087.hp2
NA19091.hp2
NA20805.hp1
NA21309.hp2
 missense_variant MODERATE c.982C>A
c.982C>A
 p.Leu328Ile
p.Leu328Ile
 VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/22 1112/13089 982/2499 328/832 chr17 623667
chr17:699373 G
G
 A
A
 1 a0005
a0005
 3 NA18946.hp1
NA18955.hp1
NA19066.hp2
NA18946.hp1
NA18955.hp1
NA19066.hp2
 missense_variant MODERATE c.176C>T
c.176C>T
 p.Ala59Val
p.Ala59Val
 VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 3/22 306/13089 176/2499 59/832 chr17 699373

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
chr17:521640 G
G
 A
A
 2 a0001c0011
a0001c0016
a0001c0011
a0001c0016
 2 HG01074.hp2
HG01168.hp2
HG01074.hp2
HG01168.hp2
 synonymous_variant LOW c.2184C>T
c.2184C>T
 p.Ile728Ile
p.Ile728Ile
 VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 20/22 2314/13089 2184/2499 728/832 chr17 521640
chr17:562535 G
G
 A
A
 6 a0001c0001
a0001c0007
a0001c0015
others(3): Show 
a0001c0001
a0001c0007
a0001c0015
a0002c0010
a0006c0012
a0007c0013
 78 HG00423.hp2
HG00741.hp1
HG00741.hp2
others(75): Show 
HG00423.hp2
HG00741.hp1
HG00741.hp2
HG01081.hp2
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01346.hp2
HG01361.hp2
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp2
HG01978.hp2
HG02040.hp2
HG02056.hp2
HG02083.hp2
HG02109.hp2
HG02129.hp2
HG02132.hp2
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02572.hp2
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02723.hp1
HG02723.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03492.hp2
HG03516.hp1
HG03688.hp2
HG04184.hp2
HG04199.hp2
HG04204.hp1
NA18940.hp2
NA18945.hp2
NA18950.hp1
NA18961.hp1
NA18967.hp2
NA18978.hp2
NA18983.hp2
NA18987.hp2
NA19009.hp2
NA19060.hp2
NA19065.hp2
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19079.hp2
NA19081.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA21309.hp1
 synonymous_variant LOW c.1524C>T
c.1524C>T
 p.Tyr508Tyr
p.Tyr508Tyr
 VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 14/22 1654/13089 1524/2499 508/832 chr17 562535
chr17:601795 T
T
 C
C
 1 a0001c0005
a0001c0005
 10 HG02135.hp2
HG02602.hp1
NA18747.hp1
others(7): Show 
HG02135.hp2
HG02602.hp1
NA18747.hp1
NA18955.hp2
NA18960.hp2
NA18994.hp2
NA19000.hp2
NA19010.hp2
NA19087.hp1
NA19091.hp1
 splice_region_variant&synonymous_variant LOW c.1218A>G
c.1218A>G
 p.Gln406Gln
p.Gln406Gln
 VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/22 1348/13089 1218/2499 406/832 chr17 601795
chr17:623560 G
G
 A
A
 2 a0001c0014
a0001c0015
a0001c0014
a0001c0015
 2 HG02572.hp1
HG02723.hp1
HG02572.hp1
HG02723.hp1
 synonymous_variant LOW c.1089C>T
c.1089C>T
 p.Ser363Ser
p.Ser363Ser
 VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/22 1219/13089 1089/2499 363/832 chr17 623560
chr17:714629 G
G
 A
A
 3 a0001c0006
a0001c0007
a0001c0016
a0001c0006
a0001c0007
a0001c0016
 20 HG00099.hp2
HG00280.hp2
HG01099.hp2
others(17): Show 
HG00099.hp2
HG00280.hp2
HG01099.hp2
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp2
HG01928.hp2
HG01978.hp2
HG01981.hp2
HG02293.hp2
HG02300.hp2
HG03491.hp1
HG03492.hp1
HG03688.hp1
NA18948.hp1
 synonymous_variant LOW c.81C>T
c.81C>T
 p.Ile27Ile
p.Ile27Ile
 VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 1/22 211/13089 81/2499 27/832 chr17 714629

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
chr17:509093 GCTCACCC
others(26): Show 
GCTCACCCCTCACTAGTCACATATCAAATCCTGT
 G
G
 3 a0001c0002t0049
a0001c0002t0078
a0001c0014t0135
a0001c0002t0049
a0001c0002t0078
a0001c0014t0135
 3 HG02145.hp2
HG02572.hp1
HG03516.hp2
HG02145.hp2
HG02572.hp1
HG03516.hp2
 3_prime_UTR_variant MODIFIER c.*10002_*10034delAC
others(31): Show 
c.*10002_*10034delACAGGATTTGATATGTGACTAGTGAGGGGTGA
G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 10002 chr17 509093
chr17:509116 T
T
 G
G
 5 a0001c0001t0095
a0001c0001t0096
a0001c0001t0098
others(2): Show 
a0001c0001t0095
a0001c0001t0096
a0001c0001t0098
a0001c0001t0105
a0001c0002t0050
 5 HG01109.hp2
HG02280.hp1
HG02818.hp2
others(2): Show 
HG01109.hp2
HG02280.hp1
HG02818.hp2
HG03225.hp2
NA20300.hp2
 3_prime_UTR_variant MODIFIER c.*10012A>C
c.*10012A>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 10012 chr17 509116
chr17:509199 C
C
 T
T
 2 a0001c0011t0051
a0001c0016t0052
a0001c0011t0051
a0001c0016t0052
 2 HG01074.hp2
HG01168.hp2
HG01074.hp2
HG01168.hp2
 3_prime_UTR_variant MODIFIER c.*9929G>A
c.*9929G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 9929 chr17 509199
chr17:509416 ATATCAAA
others(60): Show 
ATATCAAATCCTGGCTGACCCCTTACTAGTCACGTATCGAATCCTGGCTG
ACCCCCTGACTAGTCACG
 A
A
 31 a0001c0001t0002
a0001c0001t0011
a0001c0001t0016
others(28): Show 
a0001c0001t0002
a0001c0001t0011
a0001c0001t0016
a0001c0001t0030
a0001c0001t0069
a0001c0001t0084
a0001c0001t0106
a0001c0001t0107
a0001c0001t0110
a0001c0001t0113
a0001c0001t0114
a0001c0001t0115
a0001c0001t0116
a0001c0001t0117
a0001c0001t0119
a0001c0001t0120
a0001c0001t0121
a0001c0001t0128
a0001c0002t0109
a0001c0006t0021
a0001c0006t0039
a0001c0006t0040
a0001c0006t0053
a0001c0006t0057
a0001c0007t0011
a0001c0007t0012
a0001c0007t0023
a0001c0007t0062
a0001c0007t0070
a0002c0003t0099
a0006c0012t0129
 47 HG00099.hp1
HG00099.hp2
HG00280.hp2
others(44): Show 
HG00099.hp1
HG00099.hp2
HG00280.hp2
HG00438.hp2
HG00741.hp2
HG01081.hp2
HG01175.hp2
HG01192.hp2
HG01255.hp2
HG01361.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp2
HG01884.hp2
HG01928.hp2
HG01978.hp2
HG01981.hp2
HG02040.hp2
HG02056.hp2
HG02083.hp2
HG02109.hp2
HG02129.hp2
HG02132.hp2
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02602.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03688.hp2
HG04184.hp2
HG04199.hp2
NA18940.hp2
NA18945.hp2
NA18967.hp2
NA18978.hp2
NA18983.hp2
NA18987.hp2
NA19009.hp2
NA19065.hp2
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19079.hp2
 3_prime_UTR_variant MODIFIER c.*9645_*9711delCGTG
others(63): Show 
c.*9645_*9711delCGTGACTAGTCAGGGGGTCAGCCAGGATTCGATA
CGTGACTAGTAAGGGGTCAGCCAGGATTTGATA
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 9645 chr17 509416
chr17:509433 A
A
 AC
AC
 87 a0001c0001t0015
a0001c0001t0028
a0001c0001t0029
others(84): Show 
a0001c0001t0015
a0001c0001t0028
a0001c0001t0029
a0001c0001t0032
a0001c0001t0033
a0001c0001t0034
a0001c0001t0087
a0001c0001t0088
a0001c0001t0094
a0001c0001t0095
a0001c0001t0096
a0001c0001t0097
a0001c0001t0098
a0001c0001t0101
a0001c0001t0102
a0001c0001t0105
a0001c0001t0108
a0001c0001t0111
a0001c0001t0112
a0001c0001t0118
a0001c0001t0122
a0001c0001t0127
a0001c0001t0138
a0001c0001t0141
a0001c0002t0005
a0001c0002t0007
a0001c0002t0010
a0001c0002t0022
a0001c0002t0043
a0001c0002t0048
a0001c0002t0049
a0001c0002t0050
a0001c0002t0055
a0001c0002t0058
a0001c0002t0078
a0001c0002t0086
a0001c0002t0100
a0001c0005t0010
a0001c0005t0019
a0001c0005t0020
a0001c0005t0042
a0001c0005t0044
a0001c0005t0045
a0001c0005t0046
a0001c0006t0041
a0001c0011t0051
a0001c0014t0135
a0001c0015t0126
a0001c0016t0052
a0002c0003t0008
a0002c0003t0009
a0002c0003t0018
a0002c0003t0027
a0002c0003t0036
a0002c0003t0037
a0002c0003t0085
a0002c0003t0089
a0002c0003t0090
a0002c0003t0091
a0002c0003t0092
a0002c0003t0093
a0002c0003t0104
a0002c0003t0131
a0002c0003t0136
a0002c0003t0139
a0002c0003t0140
a0002c0003t0144
a0002c0003t0145
a0002c0003t0146
a0002c0003t0148
a0002c0003t0150
a0003c0004t0004
a0003c0004t0005
a0003c0004t0006
a0003c0004t0022
a0003c0004t0047
a0003c0004t0056
a0003c0004t0059
a0003c0004t0060
a0003c0004t0061
a0003c0004t0063
a0004c0008t0036
a0004c0008t0103
a0005c0009t0130
a0005c0009t0137
a0005c0009t0147
a0007c0013t0132
 122 HG00323.hp2
HG00423.hp1
HG00423.hp2
others(119): Show 
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00621.hp1
HG01070.hp2
HG01071.hp1
HG01074.hp2
HG01099.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01168.hp2
HG01175.hp1
HG01192.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01346.hp2
HG01884.hp1
HG01891.hp1
HG01928.hp1
HG01981.hp1
HG02040.hp1
HG02056.hp1
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02129.hp1
HG02132.hp1
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02280.hp1
HG02293.hp1
HG02300.hp1
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02622.hp1
HG02622.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03491.hp2
HG03516.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG04199.hp1
HG04204.hp1
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18906.hp2
NA18940.hp1
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18946.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18955.hp1
NA18957.hp1
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18973.hp2
NA18977.hp1
NA18978.hp1
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18984.hp1
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18990.hp1
NA18994.hp1
NA18994.hp2
NA19000.hp1
NA19000.hp2
NA19007.hp1
NA19009.hp1
NA19010.hp1
NA19010.hp2
NA19011.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19065.hp1
NA19066.hp2
NA19074.hp1
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA20129.hp1
NA20300.hp2
 3_prime_UTR_variant MODIFIER c.*9694dupG
c.*9694dupG
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 9694 chr17 509433
chr17:509433 A
A
 ACCCCCTT
others(28): Show 
ACCCCCTTACTAGTCACGTATCGAATCCTGGCTGAC
 1 a0003c0004t0054
a0003c0004t0054
 1 NA19087.hp2
NA19087.hp2
 3_prime_UTR_variant MODIFIER c.*9694_*9695insGTCA
others(31): Show 
c.*9694_*9695insGTCAGCCAGGATTCGATACGTGACTAGTAAGGGG
G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 9694 chr17 509433
chr17:509449 G
G
 A
A
 2 a0001c0002t0082
a0002c0003t0073
a0001c0002t0082
a0002c0003t0073
 2 NA18977.hp2
NA19079.hp1
NA18977.hp2
NA19079.hp1
 3_prime_UTR_variant MODIFIER c.*9679C>T
c.*9679C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 9679 chr17 509449
chr17:509533 GCCCCTCA
others(59): Show 
GCCCCTCAGTAGCCACATATCAAATCCTGGCTCACTCCTCACTACTCACA
TATCGAATCCTGGCTCA
 G
G
 1 a0003c0004t0081
a0003c0004t0081
 1 NA21309.hp2
NA21309.hp2
 3_prime_UTR_variant MODIFIER c.*9529_*9594delTGAG
others(62): Show 
c.*9529_*9594delTGAGCCAGGATTCGATATGTGAGTAGTGAGGAGT
GAGCCAGGATTTGATATGTGGCTACTGAGGGG
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 9529 chr17 509533
chr17:509586 C
C
 T
T
 1 a0001c0001t0033
a0001c0001t0033
 2 HG02886.hp2
HG03225.hp1
HG02886.hp2
HG03225.hp1
 3_prime_UTR_variant MODIFIER c.*9542G>A
c.*9542G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 9542 chr17 509586
chr17:509659 T
T
 C
C
 32 a0001c0001t0015
a0001c0001t0028
a0001c0001t0029
others(29): Show 
a0001c0001t0015
a0001c0001t0028
a0001c0001t0029
a0001c0001t0033
a0001c0001t0087
a0001c0001t0088
a0001c0001t0094
a0001c0001t0095
a0001c0001t0096
a0001c0001t0097
a0001c0001t0098
a0001c0001t0105
a0001c0001t0111
a0001c0001t0112
a0001c0001t0127
a0001c0002t0005
a0001c0002t0007
a0001c0002t0048
a0001c0002t0050
a0001c0002t0058
a0001c0002t0086
a0002c0003t0008
a0002c0003t0009
a0002c0003t0027
a0002c0003t0085
a0002c0003t0090
a0002c0003t0091
a0002c0003t0092
a0002c0003t0093
a0002c0003t0104
a0002c0003t0150
a0003c0004t0005
 50 HG00423.hp2
HG01099.hp1
HG01109.hp2
others(47): Show 
HG00423.hp2
HG01099.hp1
HG01109.hp2
HG01167.hp1
HG01884.hp1
HG01891.hp1
HG01928.hp1
HG01981.hp1
HG02040.hp1
HG02056.hp1
HG02083.hp1
HG02135.hp1
HG02145.hp1
HG02280.hp1
HG02293.hp1
HG02300.hp1
HG02622.hp1
HG02622.hp2
HG02723.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp2
HG02922.hp2
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03491.hp2
NA18612.hp1
NA18945.hp1
NA18948.hp2
NA18950.hp1
NA18959.hp2
NA18961.hp1
NA18962.hp2
NA18979.hp1
NA18987.hp1
NA19000.hp1
NA19007.hp1
NA19010.hp1
NA19060.hp1
NA19060.hp2
NA19065.hp1
NA19074.hp1
NA19080.hp2
NA19081.hp1
NA19084.hp2
NA19090.hp1
NA20129.hp1
NA20300.hp2
 3_prime_UTR_variant MODIFIER c.*9469A>G
c.*9469A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 9469 chr17 509659
chr17:509680 C
C
 T
T
 5 a0001c0002t0003
a0003c0004t0003
a0003c0004t0064
others(2): Show 
a0001c0002t0003
a0003c0004t0003
a0003c0004t0064
a0003c0004t0071
a0003c0004t0081
 10 HG01071.hp2
HG01074.hp1
HG01081.hp1
others(7): Show 
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01257.hp2
HG01516.hp2
HG01517.hp1
HG02109.hp1
NA18906.hp1
NA20805.hp1
NA21309.hp2
 3_prime_UTR_variant MODIFIER c.*9448G>A
c.*9448G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 9448 chr17 509680
chr17:509718 T
T
 C
C
 25 a0001c0001t0032
a0001c0001t0034
a0001c0001t0084
others(22): Show 
a0001c0001t0032
a0001c0001t0034
a0001c0001t0084
a0001c0001t0122
a0001c0001t0138
a0001c0001t0141
a0001c0006t0040
a0001c0006t0041
a0001c0015t0126
a0002c0003t0018
a0002c0003t0036
a0002c0003t0037
a0002c0003t0131
a0002c0003t0136
a0002c0003t0139
a0002c0003t0140
a0002c0003t0144
a0002c0003t0145
a0002c0003t0146
a0002c0003t0148
a0004c0008t0036
a0005c0009t0130
a0005c0009t0137
a0005c0009t0147
a0007c0013t0132
 30 HG00323.hp2
HG00423.hp1
HG00621.hp1
others(27): Show 
HG00323.hp2
HG00423.hp1
HG00621.hp1
HG01070.hp2
HG01071.hp1
HG01106.hp2
HG01109.hp1
HG01175.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01981.hp2
HG02129.hp1
HG02132.hp1
HG02723.hp1
HG02738.hp2
HG02895.hp1
HG02922.hp1
HG03516.hp1
HG03831.hp1
HG03942.hp1
HG04199.hp1
HG04204.hp1
NA18946.hp1
NA18955.hp1
NA18979.hp2
NA18983.hp1
NA18986.hp1
NA19066.hp2
NA19090.hp2
 3_prime_UTR_variant MODIFIER c.*9410A>G
c.*9410A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 9410 chr17 509718
chr17:509719 G
G
 A
A
 2 a0002c0003t0037
a0002c0003t0146
a0002c0003t0037
a0002c0003t0146
 3 HG02132.hp1
NA18986.hp1
NA19090.hp2
HG02132.hp1
NA18986.hp1
NA19090.hp2
 3_prime_UTR_variant MODIFIER c.*9409C>T
c.*9409C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 9409 chr17 509719
chr17:509731 A
A
 G
G
 3 a0001c0001t0108
a0001c0001t0118
a0005c0009t0137
a0001c0001t0108
a0001c0001t0118
a0005c0009t0137
 3 HG01192.hp1
HG01346.hp2
NA18955.hp1
HG01192.hp1
HG01346.hp2
NA18955.hp1
 3_prime_UTR_variant MODIFIER c.*9397T>C
c.*9397T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 9397 chr17 509731
chr17:509751 T
T
 C
C
 23 a0001c0001t0032
a0001c0001t0034
a0001c0001t0122
others(20): Show 
a0001c0001t0032
a0001c0001t0034
a0001c0001t0122
a0001c0001t0138
a0001c0001t0141
a0001c0006t0041
a0001c0015t0126
a0002c0003t0018
a0002c0003t0036
a0002c0003t0037
a0002c0003t0131
a0002c0003t0136
a0002c0003t0139
a0002c0003t0140
a0002c0003t0144
a0002c0003t0145
a0002c0003t0146
a0002c0003t0148
a0004c0008t0036
a0005c0009t0130
a0005c0009t0137
a0005c0009t0147
a0007c0013t0132
 28 HG00323.hp2
HG00423.hp1
HG00621.hp1
others(25): Show 
HG00323.hp2
HG00423.hp1
HG00621.hp1
HG01070.hp2
HG01071.hp1
HG01106.hp2
HG01109.hp1
HG01175.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG02129.hp1
HG02132.hp1
HG02723.hp1
HG02738.hp2
HG02895.hp1
HG02922.hp1
HG03831.hp1
HG03942.hp1
HG04199.hp1
HG04204.hp1
NA18946.hp1
NA18955.hp1
NA18979.hp2
NA18983.hp1
NA18986.hp1
NA19066.hp2
NA19090.hp2
 3_prime_UTR_variant MODIFIER c.*9377A>G
c.*9377A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 9377 chr17 509751
chr17:509781 A
A
 G
G
 1 a0005c0009t0137
a0005c0009t0137
 1 NA18955.hp1
NA18955.hp1
 3_prime_UTR_variant MODIFIER c.*9347T>C
c.*9347T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 9347 chr17 509781
chr17:509786 A
A
 G
G
 2 a0001c0001t0101
a0001c0001t0102
a0001c0001t0101
a0001c0001t0102
 2 HG02572.hp2
HG03139.hp1
HG02572.hp2
HG03139.hp1
 3_prime_UTR_variant MODIFIER c.*9342T>C
c.*9342T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 9342 chr17 509786
chr17:509873 A
A
 ACCCCTCA
others(92): Show 
ACCCCTCACCAGTCACATATCAAATCCTGGCTCGCCCCTCACCAGTCACA
TATCAAATCCTGGCTCGCCCCTCACCAGTCACATATCAAATCCTGGCTCG
 7 a0001c0002t0010
a0001c0005t0010
a0001c0005t0019
others(4): Show 
a0001c0002t0010
a0001c0005t0010
a0001c0005t0019
a0001c0005t0044
a0001c0005t0045
a0001c0005t0046
a0003c0004t0047
 9 HG02135.hp2
HG02602.hp1
NA18747.hp1
others(6): Show 
HG02135.hp2
HG02602.hp1
NA18747.hp1
NA18960.hp2
NA18994.hp1
NA18994.hp2
NA19009.hp1
NA19010.hp2
NA19084.hp1
 3_prime_UTR_variant MODIFIER c.*9156_*9254dupCGAG
others(95): Show 
c.*9156_*9254dupCGAGCCAGGATTTGATATGTGACTGGTGAGGGGC
GAGCCAGGATTTGATATGTGACTGGTGAGGGGCGAGCCAGGATTTGATAT
GTGACTGGTGAGGGG
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 9254 chr17 509873
chr17:509873 A
A
 ACCCCTCA
others(125): Show 
ACCCCTCACCAGTCACATATCAAATCCTGGCTCGCCCCTCACCAGTCACA
TATCAAATCCTGGCTCGCCCCTCACCAGTCACATATCAAATCCTGGCTCG
CCCCTCACCAGTCACATATCAAATCCTGGCTCG
 5 a0001c0002t0043
a0001c0005t0042
a0001c0011t0051
others(2): Show 
a0001c0002t0043
a0001c0005t0042
a0001c0011t0051
a0001c0016t0052
a0002c0003t0089
 5 HG01074.hp2
HG01168.hp2
HG02074.hp2
others(2): Show 
HG01074.hp2
HG01168.hp2
HG02074.hp2
NA18944.hp1
NA19000.hp2
 3_prime_UTR_variant MODIFIER c.*9123_*9254dupCGAG
others(128): Show 
c.*9123_*9254dupCGAGCCAGGATTTGATATGTGACTGGTGAGGGGC
GAGCCAGGATTTGATATGTGACTGGTGAGGGGCGAGCCAGGATTTGATAT
GTGACTGGTGAGGGGCGAGCCAGGATTTGATATGTGACTGGTGAGGGG
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 9254 chr17 509873
chr17:509873 A
A
 ACCCCTCA
others(191): Show 
ACCCCTCACCAGTCACATATCAAATCCTGGCTCGCCCCTCACCAGTCACA
TATCAAATCCTGGCTCGCCCCTCACCAGTCACATATCAAATCCTGGCTCG
CCCCTCACCAGTCACATATCAAATCCTGGCTCGCCCCTCACCAGTCACAT
ATCAAATCCTGGCTCGCCCCTCACCAGTCACATATCAAATCCTGGCTCG
 1 a0001c0005t0020
a0001c0005t0020
 2 NA19087.hp1
NA19091.hp1
NA19087.hp1
NA19091.hp1
 3_prime_UTR_variant MODIFIER c.*9057_*9254dupCGAG
others(194): Show 
c.*9057_*9254dupCGAGCCAGGATTTGATATGTGACTGGTGAGGGGC
GAGCCAGGATTTGATATGTGACTGGTGAGGGGCGAGCCAGGATTTGATAT
GTGACTGGTGAGGGGCGAGCCAGGATTTGATATGTGACTGGTGAGGGGCG
AGCCAGGATTTGATATGTGACTGGTGAGGGGCGAGCCAGGATTTGATATG
TGACTGGTGAGGGG
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 9254 chr17 509873
chr17:509873 A
A
 ACCCCTCA
others(224): Show 
ACCCCTCACCAGTCACATATCAAATCCTGGCTCGCCCCTCACCAGTCACA
TATCAAATCCTGGCTCGCCCCTCACCAGTCACATATCAAATCCTGGCTCG
CCCCTCACCAGTCACATATCAAATCCTGGCTCGCCCCTCACCAGTCACAT
ATCAAATCCTGGCTCGCCCCTCACCAGTCACATATCAAATCCTGGCTCGC
CCCTCACCAGTCACATATCAAATCCTGGCTCG
 1 a0001c0001t0121
a0001c0001t0121
 1 HG04199.hp2
HG04199.hp2
 3_prime_UTR_variant MODIFIER c.*9024_*9254dupCGAG
others(227): Show 
c.*9024_*9254dupCGAGCCAGGATTTGATATGTGACTGGTGAGGGGC
GAGCCAGGATTTGATATGTGACTGGTGAGGGGCGAGCCAGGATTTGATAT
GTGACTGGTGAGGGGCGAGCCAGGATTTGATATGTGACTGGTGAGGGGCG
AGCCAGGATTTGATATGTGACTGGTGAGGGGCGAGCCAGGATTTGATATG
TGACTGGTGAGGGGCGAGCCAGGATTTGATATGTGACTGGTGAGGGG
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 9254 chr17 509873
chr17:509873 ACCCCTCA
others(26): Show 
ACCCCTCACCAGTCACATATCAAATCCTGGCTCG
 A
A
 1 a0001c0002t0143
a0001c0002t0143
 1 HG00140.hp1
HG00140.hp1
 3_prime_UTR_variant MODIFIER c.*9222_*9254delCGAG
others(29): Show 
c.*9222_*9254delCGAGCCAGGATTTGATATGTGACTGGTGAGGGG
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 9222 chr17 509873
chr17:509890 T
T
 C
C
 32 a0001c0001t0015
a0001c0001t0028
a0001c0001t0029
others(29): Show 
a0001c0001t0015
a0001c0001t0028
a0001c0001t0029
a0001c0001t0033
a0001c0001t0087
a0001c0001t0088
a0001c0001t0094
a0001c0001t0095
a0001c0001t0096
a0001c0001t0097
a0001c0001t0098
a0001c0001t0105
a0001c0001t0111
a0001c0001t0112
a0001c0001t0127
a0001c0002t0005
a0001c0002t0007
a0001c0002t0048
a0001c0002t0050
a0001c0002t0058
a0001c0002t0086
a0002c0003t0008
a0002c0003t0009
a0002c0003t0027
a0002c0003t0085
a0002c0003t0090
a0002c0003t0091
a0002c0003t0092
a0002c0003t0093
a0002c0003t0104
a0002c0003t0150
a0003c0004t0005
 50 HG00423.hp2
HG01099.hp1
HG01109.hp2
others(47): Show 
HG00423.hp2
HG01099.hp1
HG01109.hp2
HG01167.hp1
HG01884.hp1
HG01891.hp1
HG01928.hp1
HG01981.hp1
HG02040.hp1
HG02056.hp1
HG02083.hp1
HG02135.hp1
HG02145.hp1
HG02280.hp1
HG02293.hp1
HG02300.hp1
HG02622.hp1
HG02622.hp2
HG02723.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp2
HG02922.hp2
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03491.hp2
NA18612.hp1
NA18945.hp1
NA18948.hp2
NA18950.hp1
NA18959.hp2
NA18961.hp1
NA18962.hp2
NA18979.hp1
NA18987.hp1
NA19000.hp1
NA19007.hp1
NA19010.hp1
NA19060.hp1
NA19060.hp2
NA19065.hp1
NA19074.hp1
NA19080.hp2
NA19081.hp1
NA19084.hp2
NA19090.hp1
NA20129.hp1
NA20300.hp2
 3_prime_UTR_variant MODIFIER c.*9238A>G
c.*9238A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 9238 chr17 509890
chr17:509923 T
T
 C
C
 32 a0001c0001t0015
a0001c0001t0028
a0001c0001t0029
others(29): Show 
a0001c0001t0015
a0001c0001t0028
a0001c0001t0029
a0001c0001t0033
a0001c0001t0087
a0001c0001t0088
a0001c0001t0094
a0001c0001t0095
a0001c0001t0096
a0001c0001t0097
a0001c0001t0098
a0001c0001t0105
a0001c0001t0111
a0001c0001t0112
a0001c0001t0127
a0001c0002t0005
a0001c0002t0007
a0001c0002t0048
a0001c0002t0050
a0001c0002t0058
a0001c0002t0086
a0002c0003t0008
a0002c0003t0009
a0002c0003t0027
a0002c0003t0085
a0002c0003t0090
a0002c0003t0091
a0002c0003t0092
a0002c0003t0093
a0002c0003t0104
a0002c0003t0150
a0003c0004t0005
 50 HG00423.hp2
HG01099.hp1
HG01109.hp2
others(47): Show 
HG00423.hp2
HG01099.hp1
HG01109.hp2
HG01167.hp1
HG01884.hp1
HG01891.hp1
HG01928.hp1
HG01981.hp1
HG02040.hp1
HG02056.hp1
HG02083.hp1
HG02135.hp1
HG02145.hp1
HG02280.hp1
HG02293.hp1
HG02300.hp1
HG02622.hp1
HG02622.hp2
HG02723.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp2
HG02922.hp2
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03491.hp2
NA18612.hp1
NA18945.hp1
NA18948.hp2
NA18950.hp1
NA18959.hp2
NA18961.hp1
NA18962.hp2
NA18979.hp1
NA18987.hp1
NA19000.hp1
NA19007.hp1
NA19010.hp1
NA19060.hp1
NA19060.hp2
NA19065.hp1
NA19074.hp1
NA19080.hp2
NA19081.hp1
NA19084.hp2
NA19090.hp1
NA20129.hp1
NA20300.hp2
 3_prime_UTR_variant MODIFIER c.*9205A>G
c.*9205A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 9205 chr17 509923
chr17:509956 T
T
 C
C
 32 a0001c0001t0015
a0001c0001t0028
a0001c0001t0029
others(29): Show 
a0001c0001t0015
a0001c0001t0028
a0001c0001t0029
a0001c0001t0033
a0001c0001t0087
a0001c0001t0088
a0001c0001t0094
a0001c0001t0095
a0001c0001t0096
a0001c0001t0097
a0001c0001t0098
a0001c0001t0105
a0001c0001t0111
a0001c0001t0112
a0001c0001t0127
a0001c0002t0005
a0001c0002t0007
a0001c0002t0048
a0001c0002t0050
a0001c0002t0058
a0001c0002t0086
a0002c0003t0008
a0002c0003t0009
a0002c0003t0027
a0002c0003t0085
a0002c0003t0090
a0002c0003t0091
a0002c0003t0092
a0002c0003t0093
a0002c0003t0104
a0002c0003t0150
a0003c0004t0005
 50 HG00423.hp2
HG01099.hp1
HG01109.hp2
others(47): Show 
HG00423.hp2
HG01099.hp1
HG01109.hp2
HG01167.hp1
HG01884.hp1
HG01891.hp1
HG01928.hp1
HG01981.hp1
HG02040.hp1
HG02056.hp1
HG02083.hp1
HG02135.hp1
HG02145.hp1
HG02280.hp1
HG02293.hp1
HG02300.hp1
HG02622.hp1
HG02622.hp2
HG02723.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp2
HG02922.hp2
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03491.hp2
NA18612.hp1
NA18945.hp1
NA18948.hp2
NA18950.hp1
NA18959.hp2
NA18961.hp1
NA18962.hp2
NA18979.hp1
NA18987.hp1
NA19000.hp1
NA19007.hp1
NA19010.hp1
NA19060.hp1
NA19060.hp2
NA19065.hp1
NA19074.hp1
NA19080.hp2
NA19081.hp1
NA19084.hp2
NA19090.hp1
NA20129.hp1
NA20300.hp2
 3_prime_UTR_variant MODIFIER c.*9172A>G
c.*9172A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 9172 chr17 509956
chr17:509989 T
T
 C
C
 32 a0001c0001t0015
a0001c0001t0028
a0001c0001t0029
others(29): Show 
a0001c0001t0015
a0001c0001t0028
a0001c0001t0029
a0001c0001t0033
a0001c0001t0087
a0001c0001t0088
a0001c0001t0094
a0001c0001t0095
a0001c0001t0096
a0001c0001t0097
a0001c0001t0098
a0001c0001t0105
a0001c0001t0111
a0001c0001t0112
a0001c0001t0127
a0001c0002t0005
a0001c0002t0007
a0001c0002t0048
a0001c0002t0050
a0001c0002t0058
a0001c0002t0086
a0002c0003t0008
a0002c0003t0009
a0002c0003t0027
a0002c0003t0085
a0002c0003t0090
a0002c0003t0091
a0002c0003t0092
a0002c0003t0093
a0002c0003t0104
a0002c0003t0150
a0003c0004t0005
 50 HG00423.hp2
HG01099.hp1
HG01109.hp2
others(47): Show 
HG00423.hp2
HG01099.hp1
HG01109.hp2
HG01167.hp1
HG01884.hp1
HG01891.hp1
HG01928.hp1
HG01981.hp1
HG02040.hp1
HG02056.hp1
HG02083.hp1
HG02135.hp1
HG02145.hp1
HG02280.hp1
HG02293.hp1
HG02300.hp1
HG02622.hp1
HG02622.hp2
HG02723.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp2
HG02922.hp2
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03491.hp2
NA18612.hp1
NA18945.hp1
NA18948.hp2
NA18950.hp1
NA18959.hp2
NA18961.hp1
NA18962.hp2
NA18979.hp1
NA18987.hp1
NA19000.hp1
NA19007.hp1
NA19010.hp1
NA19060.hp1
NA19060.hp2
NA19065.hp1
NA19074.hp1
NA19080.hp2
NA19081.hp1
NA19084.hp2
NA19090.hp1
NA20129.hp1
NA20300.hp2
 3_prime_UTR_variant MODIFIER c.*9139A>G
c.*9139A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 9139 chr17 509989
chr17:510022 T
T
 C
C
 32 a0001c0001t0015
a0001c0001t0028
a0001c0001t0029
others(29): Show 
a0001c0001t0015
a0001c0001t0028
a0001c0001t0029
a0001c0001t0033
a0001c0001t0087
a0001c0001t0088
a0001c0001t0094
a0001c0001t0095
a0001c0001t0096
a0001c0001t0097
a0001c0001t0098
a0001c0001t0105
a0001c0001t0111
a0001c0001t0112
a0001c0001t0127
a0001c0002t0005
a0001c0002t0007
a0001c0002t0048
a0001c0002t0050
a0001c0002t0058
a0001c0002t0086
a0002c0003t0008
a0002c0003t0009
a0002c0003t0027
a0002c0003t0085
a0002c0003t0090
a0002c0003t0091
a0002c0003t0092
a0002c0003t0093
a0002c0003t0104
a0002c0003t0150
a0003c0004t0005
 50 HG00423.hp2
HG01099.hp1
HG01109.hp2
others(47): Show 
HG00423.hp2
HG01099.hp1
HG01109.hp2
HG01167.hp1
HG01884.hp1
HG01891.hp1
HG01928.hp1
HG01981.hp1
HG02040.hp1
HG02056.hp1
HG02083.hp1
HG02135.hp1
HG02145.hp1
HG02280.hp1
HG02293.hp1
HG02300.hp1
HG02622.hp1
HG02622.hp2
HG02723.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp2
HG02922.hp2
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03491.hp2
NA18612.hp1
NA18945.hp1
NA18948.hp2
NA18950.hp1
NA18959.hp2
NA18961.hp1
NA18962.hp2
NA18979.hp1
NA18987.hp1
NA19000.hp1
NA19007.hp1
NA19010.hp1
NA19060.hp1
NA19060.hp2
NA19065.hp1
NA19074.hp1
NA19080.hp2
NA19081.hp1
NA19084.hp2
NA19090.hp1
NA20129.hp1
NA20300.hp2
 3_prime_UTR_variant MODIFIER c.*9106A>G
c.*9106A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 9106 chr17 510022
chr17:510055 T
T
 C
C
 18 a0001c0001t0029
a0001c0001t0033
a0001c0001t0087
others(15): Show 
a0001c0001t0029
a0001c0001t0033
a0001c0001t0087
a0001c0001t0088
a0001c0001t0095
a0001c0001t0096
a0001c0001t0097
a0001c0001t0098
a0001c0001t0105
a0001c0001t0111
a0001c0001t0112
a0001c0001t0127
a0001c0002t0007
a0001c0002t0048
a0001c0002t0050
a0001c0002t0058
a0002c0003t0085
a0002c0003t0090
 23 HG01109.hp2
HG01884.hp1
HG01891.hp1
others(20): Show 
HG01109.hp2
HG01884.hp1
HG01891.hp1
HG02280.hp1
HG02622.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp2
HG02922.hp2
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03491.hp2
NA18612.hp1
NA18959.hp2
NA18962.hp2
NA18979.hp1
NA19007.hp1
NA19065.hp1
NA19090.hp1
NA20129.hp1
NA20300.hp2
 3_prime_UTR_variant MODIFIER c.*9073A>G
c.*9073A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 9073 chr17 510055
chr17:510088 T
T
 C
C
 4 a0001c0001t0029
a0001c0001t0033
a0001c0001t0088
others(1): Show 
a0001c0001t0029
a0001c0001t0033
a0001c0001t0088
a0001c0001t0127
 6 HG01884.hp1
HG01891.hp1
HG02622.hp2
others(3): Show 
HG01884.hp1
HG01891.hp1
HG02622.hp2
HG02886.hp2
HG03139.hp2
HG03225.hp1
 3_prime_UTR_variant MODIFIER c.*9040A>G
c.*9040A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 9040 chr17 510088
chr17:510146 C
C
 T
T
 3 a0001c0002t0049
a0001c0002t0078
a0001c0014t0135
a0001c0002t0049
a0001c0002t0078
a0001c0014t0135
 3 HG02145.hp2
HG02572.hp1
HG03516.hp2
HG02145.hp2
HG02572.hp1
HG03516.hp2
 3_prime_UTR_variant MODIFIER c.*8982G>A
c.*8982G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 8982 chr17 510146
chr17:510179 C
C
 T
T
 3 a0001c0002t0049
a0001c0002t0078
a0001c0014t0135
a0001c0002t0049
a0001c0002t0078
a0001c0014t0135
 3 HG02145.hp2
HG02572.hp1
HG03516.hp2
HG02145.hp2
HG02572.hp1
HG03516.hp2
 3_prime_UTR_variant MODIFIER c.*8949G>A
c.*8949G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 8949 chr17 510179
chr17:510199 G
G
 T
T
 3 a0001c0002t0049
a0001c0002t0078
a0001c0014t0135
a0001c0002t0049
a0001c0002t0078
a0001c0014t0135
 3 HG02145.hp2
HG02572.hp1
HG03516.hp2
HG02145.hp2
HG02572.hp1
HG03516.hp2
 3_prime_UTR_variant MODIFIER c.*8929C>A
c.*8929C>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 8929 chr17 510199
chr17:510203 G
G
 A
A
 3 a0001c0002t0049
a0001c0002t0078
a0001c0014t0135
a0001c0002t0049
a0001c0002t0078
a0001c0014t0135
 3 HG02145.hp2
HG02572.hp1
HG03516.hp2
HG02145.hp2
HG02572.hp1
HG03516.hp2
 3_prime_UTR_variant MODIFIER c.*8925C>T
c.*8925C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 8925 chr17 510203
chr17:510204 C
C
 T
T
 3 a0001c0002t0049
a0001c0002t0078
a0001c0014t0135
a0001c0002t0049
a0001c0002t0078
a0001c0014t0135
 3 HG02145.hp2
HG02572.hp1
HG03516.hp2
HG02145.hp2
HG02572.hp1
HG03516.hp2
 3_prime_UTR_variant MODIFIER c.*8924G>A
c.*8924G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 8924 chr17 510204
chr17:510212 C
C
 T
T
 3 a0001c0002t0049
a0001c0002t0078
a0001c0014t0135
a0001c0002t0049
a0001c0002t0078
a0001c0014t0135
 3 HG02145.hp2
HG02572.hp1
HG03516.hp2
HG02145.hp2
HG02572.hp1
HG03516.hp2
 3_prime_UTR_variant MODIFIER c.*8916G>A
c.*8916G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 8916 chr17 510212
chr17:510229 C
C
 T
T
 3 a0001c0002t0049
a0001c0002t0078
a0001c0014t0135
a0001c0002t0049
a0001c0002t0078
a0001c0014t0135
 3 HG02145.hp2
HG02572.hp1
HG03516.hp2
HG02145.hp2
HG02572.hp1
HG03516.hp2
 3_prime_UTR_variant MODIFIER c.*8899G>A
c.*8899G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 8899 chr17 510229
chr17:510235 C
C
 G
G
 3 a0001c0002t0049
a0001c0002t0078
a0001c0014t0135
a0001c0002t0049
a0001c0002t0078
a0001c0014t0135
 3 HG02145.hp2
HG02572.hp1
HG03516.hp2
HG02145.hp2
HG02572.hp1
HG03516.hp2
 3_prime_UTR_variant MODIFIER c.*8893G>C
c.*8893G>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 8893 chr17 510235
chr17:510236 G
G
 A
A
 3 a0001c0002t0049
a0001c0002t0078
a0001c0014t0135
a0001c0002t0049
a0001c0002t0078
a0001c0014t0135
 3 HG02145.hp2
HG02572.hp1
HG03516.hp2
HG02145.hp2
HG02572.hp1
HG03516.hp2
 3_prime_UTR_variant MODIFIER c.*8892C>T
c.*8892C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 8892 chr17 510236
chr17:510242 C
C
 T
T
 3 a0001c0002t0049
a0001c0002t0078
a0001c0014t0135
a0001c0002t0049
a0001c0002t0078
a0001c0014t0135
 3 HG02145.hp2
HG02572.hp1
HG03516.hp2
HG02145.hp2
HG02572.hp1
HG03516.hp2
 3_prime_UTR_variant MODIFIER c.*8886G>A
c.*8886G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 8886 chr17 510242
chr17:510245 C
C
 T
T
 4 a0001c0001t0102
a0001c0002t0049
a0001c0002t0078
others(1): Show 
a0001c0001t0102
a0001c0002t0049
a0001c0002t0078
a0001c0014t0135
 4 HG02145.hp2
HG02572.hp1
HG02572.hp2
others(1): Show 
HG02145.hp2
HG02572.hp1
HG02572.hp2
HG03516.hp2
 3_prime_UTR_variant MODIFIER c.*8883G>A
c.*8883G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 8883 chr17 510245
chr17:510257 A
A
 G
G
 3 a0001c0002t0049
a0001c0002t0078
a0001c0014t0135
a0001c0002t0049
a0001c0002t0078
a0001c0014t0135
 3 HG02145.hp2
HG02572.hp1
HG03516.hp2
HG02145.hp2
HG02572.hp1
HG03516.hp2
 3_prime_UTR_variant MODIFIER c.*8871T>C
c.*8871T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 8871 chr17 510257
chr17:510269 G
G
 A
A
 3 a0001c0002t0049
a0001c0002t0078
a0001c0014t0135
a0001c0002t0049
a0001c0002t0078
a0001c0014t0135
 3 HG02145.hp2
HG02572.hp1
HG03516.hp2
HG02145.hp2
HG02572.hp1
HG03516.hp2
 3_prime_UTR_variant MODIFIER c.*8859C>T
c.*8859C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 8859 chr17 510269
chr17:510278 T
T
 C
C
 60 a0001c0001t0002
a0001c0001t0011
a0001c0001t0016
others(57): Show 
a0001c0001t0002
a0001c0001t0011
a0001c0001t0016
a0001c0001t0030
a0001c0001t0032
a0001c0001t0034
a0001c0001t0069
a0001c0001t0084
a0001c0001t0106
a0001c0001t0107
a0001c0001t0108
a0001c0001t0110
a0001c0001t0111
a0001c0001t0113
a0001c0001t0114
a0001c0001t0115
a0001c0001t0116
a0001c0001t0117
a0001c0001t0119
a0001c0001t0120
a0001c0001t0122
a0001c0001t0128
a0001c0001t0138
a0001c0001t0141
a0001c0002t0100
a0001c0002t0109
a0001c0006t0021
a0001c0006t0039
a0001c0006t0041
a0001c0006t0053
a0001c0006t0057
a0001c0007t0011
a0001c0007t0012
a0001c0007t0023
a0001c0007t0062
a0001c0007t0070
a0001c0015t0126
a0002c0003t0018
a0002c0003t0036
a0002c0003t0037
a0002c0003t0085
a0002c0003t0090
a0002c0003t0099
a0002c0003t0131
a0002c0003t0136
a0002c0003t0139
a0002c0003t0140
a0002c0003t0144
a0002c0003t0145
a0002c0003t0146
a0002c0003t0148
a0003c0004t0059
a0003c0004t0061
a0003c0004t0063
a0004c0008t0036
a0005c0009t0130
a0005c0009t0137
a0005c0009t0147
a0006c0012t0129
a0007c0013t0132
 81 HG00099.hp1
HG00099.hp2
HG00280.hp2
others(78): Show 
HG00099.hp1
HG00099.hp2
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00438.hp2
HG00621.hp1
HG00741.hp2
HG01070.hp2
HG01071.hp1
HG01081.hp2
HG01106.hp2
HG01109.hp1
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01361.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp2
HG01884.hp2
HG01928.hp2
HG01978.hp2
HG02040.hp2
HG02056.hp2
HG02083.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02602.hp2
HG02723.hp1
HG02738.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03688.hp2
HG03831.hp1
HG03942.hp1
HG04184.hp2
HG04199.hp1
HG04204.hp1
NA18612.hp1
NA18940.hp2
NA18944.hp2
NA18945.hp2
NA18946.hp1
NA18955.hp1
NA18967.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18986.hp1
NA18987.hp2
NA19009.hp2
NA19064.hp1
NA19065.hp2
NA19066.hp2
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19079.hp2
NA19090.hp2
NA19091.hp2
 3_prime_UTR_variant MODIFIER c.*8850A>G
c.*8850A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 8850 chr17 510278
chr17:510298 T
T
 G
G
 104 a0001c0001t0002
a0001c0001t0011
a0001c0001t0015
others(101): Show 
a0001c0001t0002
a0001c0001t0011
a0001c0001t0015
a0001c0001t0016
a0001c0001t0028
a0001c0001t0029
a0001c0001t0030
a0001c0001t0032
a0001c0001t0033
a0001c0001t0034
a0001c0001t0069
a0001c0001t0084
a0001c0001t0087
a0001c0001t0088
a0001c0001t0094
a0001c0001t0095
a0001c0001t0096
a0001c0001t0097
a0001c0001t0098
a0001c0001t0101
a0001c0001t0105
a0001c0001t0106
a0001c0001t0107
a0001c0001t0108
a0001c0001t0110
a0001c0001t0111
a0001c0001t0112
a0001c0001t0113
a0001c0001t0114
a0001c0001t0115
a0001c0001t0116
a0001c0001t0117
a0001c0001t0118
a0001c0001t0119
a0001c0001t0120
a0001c0001t0122
a0001c0001t0127
a0001c0001t0128
a0001c0001t0138
a0001c0001t0141
a0001c0002t0005
a0001c0002t0007
a0001c0002t0022
a0001c0002t0048
a0001c0002t0049
a0001c0002t0050
a0001c0002t0055
a0001c0002t0058
a0001c0002t0078
a0001c0002t0086
a0001c0002t0100
a0001c0002t0109
a0001c0006t0021
a0001c0006t0039
a0001c0006t0040
a0001c0006t0041
a0001c0006t0053
a0001c0006t0057
a0001c0007t0011
a0001c0007t0012
a0001c0007t0023
a0001c0007t0062
a0001c0007t0070
a0001c0014t0135
a0001c0015t0126
a0002c0003t0008
a0002c0003t0009
a0002c0003t0018
a0002c0003t0027
a0002c0003t0036
a0002c0003t0037
a0002c0003t0085
a0002c0003t0090
a0002c0003t0091
a0002c0003t0092
a0002c0003t0093
a0002c0003t0099
a0002c0003t0104
a0002c0003t0131
a0002c0003t0136
a0002c0003t0139
a0002c0003t0140
a0002c0003t0144
a0002c0003t0145
a0002c0003t0146
a0002c0003t0148
a0002c0003t0150
a0003c0004t0004
a0003c0004t0005
a0003c0004t0006
a0003c0004t0022
a0003c0004t0054
a0003c0004t0056
a0003c0004t0059
a0003c0004t0060
a0003c0004t0061
a0003c0004t0063
a0004c0008t0036
a0004c0008t0103
a0005c0009t0130
a0005c0009t0137
a0005c0009t0147
a0006c0012t0129
a0007c0013t0132
 152 HG00099.hp1
HG00099.hp2
HG00280.hp2
others(149): Show 
HG00099.hp1
HG00099.hp2
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp2
HG00621.hp1
HG00741.hp2
HG01070.hp2
HG01071.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01346.hp2
HG01361.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01928.hp1
HG01928.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02056.hp1
HG02056.hp2
HG02074.hp1
HG02083.hp1
HG02083.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02572.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG04184.hp2
HG04199.hp1
HG04204.hp1
NA18612.hp1
NA18612.hp2
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18955.hp1
NA18957.hp1
NA18959.hp1
NA18959.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18967.hp2
NA18973.hp2
NA18977.hp1
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18990.hp1
NA19000.hp1
NA19007.hp1
NA19009.hp2
NA19010.hp1
NA19011.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19065.hp1
NA19065.hp2
NA19066.hp2
NA19068.hp2
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19084.hp2
NA19087.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp2
NA20129.hp1
NA20300.hp2
 3_prime_UTR_variant MODIFIER c.*8830A>C
c.*8830A>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 8830 chr17 510298
chr17:510299 C
C
 CCGACCCC
others(260): Show 
CCGACCCCTTACTAGTCCCATATGAAATCCTGGCTCACCCCTCACTAGTC
ACATATCAAATCCTGGCTTGTCCCCTTGCTAGTCACGTATCAAATCCTGG
CCGACCCCTTACTAGTCCCATATGAAATCCTGGCTCACCCCTCACTAGTC
ACATATCAAATCCTGGCTTGTCCCCTTGCTAGTCACGTATCAAATCCTGG
CCGACCCCTTACTAGTCCCATATGAAATCCTGGCTCACCCCTCACTAGTC
ACATATCAAATCCTGGCT
 16 a0001c0001t0015
a0001c0001t0094
a0001c0002t0005
others(13): Show 
a0001c0001t0015
a0001c0001t0094
a0001c0002t0005
a0001c0002t0007
a0001c0002t0048
a0001c0002t0058
a0001c0002t0086
a0002c0003t0008
a0002c0003t0009
a0002c0003t0027
a0002c0003t0091
a0002c0003t0092
a0002c0003t0093
a0002c0003t0104
a0002c0003t0150
a0003c0004t0005
 31 HG00423.hp2
HG01099.hp1
HG01167.hp1
others(28): Show 
HG00423.hp2
HG01099.hp1
HG01167.hp1
HG01928.hp1
HG01981.hp1
HG02040.hp1
HG02056.hp1
HG02083.hp1
HG02135.hp1
HG02145.hp1
HG02293.hp1
HG02300.hp1
NA18945.hp1
NA18948.hp2
NA18950.hp1
NA18959.hp2
NA18961.hp1
NA18962.hp2
NA18979.hp1
NA18987.hp1
NA19000.hp1
NA19007.hp1
NA19010.hp1
NA19060.hp1
NA19060.hp2
NA19065.hp1
NA19074.hp1
NA19080.hp2
NA19081.hp1
NA19084.hp2
NA19090.hp1
 3_prime_UTR_variant MODIFIER c.*8828_*8829insAGCC
others(263): Show 
c.*8828_*8829insAGCCAGGATTTGATATGTGACTAGTGAGGGGTGA
GCCAGGATTTCATATGGGACTAGTAAGGGGTCGGCCAGGATTTGATACGT
GACTAGCAAGGGGACAAGCCAGGATTTGATATGTGACTAGTGAGGGGTGA
GCCAGGATTTCATATGGGACTAGTAAGGGGTCGGCCAGGATTTGATACGT
GACTAGCAAGGGGACAAGCCAGGATTTGATATGTGACTAGTGAGGGGTGA
GCCAGGATTTCATATGGGACTAGTAAGGGGTCG
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 8828 chr17 510299
chr17:510299 C
C
 CCGACCCC
others(760): Show 
CCGACCCCTTACTAGTCCCATATGAAATCCTGGCTCACCCCTCACTAGTC
ACATATCAAATCCTGGCTTGTCCCCTTGCTAGTCACGTATCAAATCCTGG
CCGACCCCTTACTAGTCCCATATGAAATCCTGGCTCACCCCTCACTAGTC
ACATATCAAATCCTGGCTTGTCCCCTTGCTAGTCACGTATCAAATCCTGG
CCGACCCCTTACTAGTCCCATATGAAATCCTGGCTCACCCCTCACTAGTC
ACATATCAAATCCTGGCTTGTCCCCTTGCTAGTCACGTATCAAATCCTGG
CCGACCCCTTACTAGTCCCATATGAAATCCTGGCTCACCCCTCACTAGTC
ACATATCAAATCCTGGCTTGTCCCCTTGCTAGTCACGTATCAAATCCTGG
CCGACCCCTTACTAGTCCCATATGAAATCCTGGCTCACCCCTCACTAGTC
ACATATCAAATCCTGGCTTGTCCCCTTGCTAGTCACGTATCAAATCCTGG
CCGACCCCTTACTAGTCCCATATGAAATCCTGGCTCACCCCTCACTAGTC
ACATATCAAATCCTGGCTTGTCCCCTTGCTAGTCACGTATCAAATCCTGG
CCGACCCCTTACTAGTCCCATATGAAATCCTGGCTCACCCCTCACTAGTC
ACATATCAAATCCTGGCTTGTCCCCTTGCTAGTCACGTATCAAATCCTGG
CCGACCCCTTACTAGTCCCATATGAAATCCTGGCTCACCCCTCACTAGTC
ACATATCAAATCCTGGCT
 1 a0001c0001t0028
a0001c0001t0028
 2 HG02622.hp1
HG02723.hp2
HG02622.hp1
HG02723.hp2
 3_prime_UTR_variant MODIFIER c.*8828_*8829insAGCC
others(763): Show 
c.*8828_*8829insAGCCAGGATTTGATATGTGACTAGTGAGGGGTGA
GCCAGGATTTCATATGGGACTAGTAAGGGGTCGGCCAGGATTTGATACGT
GACTAGCAAGGGGACAAGCCAGGATTTGATATGTGACTAGTGAGGGGTGA
GCCAGGATTTCATATGGGACTAGTAAGGGGTCGGCCAGGATTTGATACGT
GACTAGCAAGGGGACAAGCCAGGATTTGATATGTGACTAGTGAGGGGTGA
GCCAGGATTTCATATGGGACTAGTAAGGGGTCGGCCAGGATTTGATACGT
GACTAGCAAGGGGACAAGCCAGGATTTGATATGTGACTAGTGAGGGGTGA
GCCAGGATTTCATATGGGACTAGTAAGGGGTCGGCCAGGATTTGATACGT
GACTAGCAAGGGGACAAGCCAGGATTTGATATGTGACTAGTGAGGGGTGA
GCCAGGATTTCATATGGGACTAGTAAGGGGTCGGCCAGGATTTGATACGT
GACTAGCAAGGGGACAAGCCAGGATTTGATATGTGACTAGTGAGGGGTGA
GCCAGGATTTCATATGGGACTAGTAAGGGGTCGGCCAGGATTTGATACGT
GACTAGCAAGGGGACAAGCCAGGATTTGATATGTGACTAGTGAGGGGTGA
GCCAGGATTTCATATGGGACTAGTAAGGGGTCGGCCAGGATTTGATACGT
GACTAGCAAGGGGACAAGCCAGGATTTGATATGTGACTAGTGAGGGGTGA
GCCAGGATTTCATATGGGACTAGTAAGGGGTCG
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 8828 chr17 510299
chr17:510299 C
C
 CCGACCCC
others(860): Show 
CCGACCCCTTACTAGTCCCATATGAAATCCTGGCTCACCCCTCACTAGTC
ACATATCAAATCCTGGCTTGTCCCCTTGCTAGTCACGTATCAAATCCTGG
CCGACCCCTTACTAGTCCCATATGAAATCCTGGCTCACCCCTCACTAGTC
ACATATCAAATCCTGGCTTGTCCCCTTGCTAGTCACGTATCAAATCCTGG
CCGACCCCTTACTAGTCCCATATGAAATCCTGGCTCACCCCTCACTAGTC
ACATATCAAATCCTGGCTTGTCCCCTTGCTAGTCACGTATCAAATCCTGG
CCGACCCCTTACTAGTCCCATATGAAATCCTGGCTCACCCCTCACTAGTC
ACATATCAAATCCTGGCTTGTCCCCTTGCTAGTCACGTATCAAATCCTGG
CCGACCCCTTACTAGTCCCATATGAAATCCTGGCTCACCCCTCACTAGTC
ACATATCAAATCCTGGCTTGTCCCCTTGCTAGTCACGTATCAAATCCTGG
CCGACCCCTTACTAGTCCCATATGAAATCCTGGCTCACCCCTCACTAGTC
ACATATCAAATCCTGGCTTGTCCCCTTGCTAGTCACGTATCAAATCCTGG
CCGACCCCTTACTAGTCCCATATGAAATCCTGGCTCACCCCTCACTAGTC
ACATATCAAATCCTGGCTTGTCCCCTTGCTAGTCACGTATCAAATCCTGG
CCGACCCCTTACTAGTCCCATATGAAATCCTGGCTCACCCCTCACTAGTC
ACATATCAAATCCTGGCTTGTCCCCTTGCTAGTCACGTATCAAATCCTGG
CCGACCCCTTACTAGTCCCATATGAAATCCTGGCTCACCCCTCACTAGTC
ACATATCAAATCCTGGCT
 9 a0001c0001t0033
a0001c0001t0087
a0001c0001t0095
others(6): Show 
a0001c0001t0033
a0001c0001t0087
a0001c0001t0095
a0001c0001t0096
a0001c0001t0098
a0001c0001t0105
a0001c0001t0112
a0001c0001t0127
a0001c0002t0050
 10 HG01109.hp2
HG01891.hp1
HG02280.hp1
others(7): Show 
HG01109.hp2
HG01891.hp1
HG02280.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG03225.hp1
HG03225.hp2
NA20129.hp1
NA20300.hp2
 3_prime_UTR_variant MODIFIER c.*8828_*8829insAGCC
others(863): Show 
c.*8828_*8829insAGCCAGGATTTGATATGTGACTAGTGAGGGGTGA
GCCAGGATTTCATATGGGACTAGTAAGGGGTCGGCCAGGATTTGATACGT
GACTAGCAAGGGGACAAGCCAGGATTTGATATGTGACTAGTGAGGGGTGA
GCCAGGATTTCATATGGGACTAGTAAGGGGTCGGCCAGGATTTGATACGT
GACTAGCAAGGGGACAAGCCAGGATTTGATATGTGACTAGTGAGGGGTGA
GCCAGGATTTCATATGGGACTAGTAAGGGGTCGGCCAGGATTTGATACGT
GACTAGCAAGGGGACAAGCCAGGATTTGATATGTGACTAGTGAGGGGTGA
GCCAGGATTTCATATGGGACTAGTAAGGGGTCGGCCAGGATTTGATACGT
GACTAGCAAGGGGACAAGCCAGGATTTGATATGTGACTAGTGAGGGGTGA
GCCAGGATTTCATATGGGACTAGTAAGGGGTCGGCCAGGATTTGATACGT
GACTAGCAAGGGGACAAGCCAGGATTTGATATGTGACTAGTGAGGGGTGA
GCCAGGATTTCATATGGGACTAGTAAGGGGTCGGCCAGGATTTGATACGT
GACTAGCAAGGGGACAAGCCAGGATTTGATATGTGACTAGTGAGGGGTGA
GCCAGGATTTCATATGGGACTAGTAAGGGGTCGGCCAGGATTTGATACGT
GACTAGCAAGGGGACAAGCCAGGATTTGATATGTGACTAGTGAGGGGTGA
GCCAGGATTTCATATGGGACTAGTAAGGGGTCGGCCAGGATTTGATACGT
GACTAGCAAGGGGACAAGCCAGGATTTGATATGTGACTAGTGAGGGGTGA
GCCAGGATTTCATATGGGACTAGTAAGGGGTCG
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 8828 chr17 510299
chr17:510299 C
C
 CCGACCCC
others(860): Show 
CCGACCCCTTACTAGTCCCATATGAAATCCTGGCTCACCCCTCACTAGTC
ACATATCAAATCCTGGCTTGTCCCCTTGCTAGTCACGTATCAAATCCTGG
CCGACCCCTTACTAGTCCCATATGAAATCCTGGCTCACCCCTCACTAGTC
ACATATCAAATCCTGGCTTGTCCCCTTGCTAGTCACGTATCAAATCCTGG
CCGACCCCTTATTAGTCCCATATGAAATCCTGGCTCACCCCTCACTAGTC
ACATATCAAATCCTGGCTTGTCCCCTTGCTAGTCACGTATCAAATCCTGG
CCGACCCCTTACTAGTCCCATATGAAATCCTGGCTCACCCCTCACTAGTC
ACATATCAAATCCTGGCTTGTCCCCTTGCTAGTCACGTATCAAATCCTGG
CCGACCCCTTACTAGTCCCATATGAAATCCTGGCTCACCCCTCACTAGTC
ACATATCAAATCCTGGCTTGTCCCCTTGCTAGTCACGTATCAAATCCTGG
CCGACCCCTTACTAGTCCCATATGAAATCCTGGCTCACCCCTCACTAGTC
ACATATCAAATCCTGGCTTGTCCCCTTGCTAGTCACGTATCAAATCCTGG
CCGACCCCTTACTAGTCCCATATGAAATCCTGGCTCACCCCTCACTAGTC
ACATATCAAATCCTGGCTTGTCCCCTTGCTAGTCACGTATCAAATCCTGG
CCGACCCCTTACTAGTCCCATATGAAATCCTGGCTCACCCCTCACTAGTC
ACATATCAAATCCTGGCTTGTCCCCTTGCTAGTCACGTATCAAATCCTGG
CCGACCCCTTACTAGTCCCATATGAAATCCTGGCTCACCCCTCACTAGTC
ACATATCAAATCCTGGCT
 3 a0001c0001t0029
a0001c0001t0088
a0001c0001t0097
a0001c0001t0029
a0001c0001t0088
a0001c0001t0097
 4 HG01884.hp1
HG02622.hp2
HG02922.hp2
others(1): Show 
HG01884.hp1
HG02622.hp2
HG02922.hp2
HG03139.hp2
 3_prime_UTR_variant MODIFIER c.*8828_*8829insAGCC
others(863): Show 
c.*8828_*8829insAGCCAGGATTTGATATGTGACTAGTGAGGGGTGA
GCCAGGATTTCATATGGGACTAGTAAGGGGTCGGCCAGGATTTGATACGT
GACTAGCAAGGGGACAAGCCAGGATTTGATATGTGACTAGTGAGGGGTGA
GCCAGGATTTCATATGGGACTAGTAAGGGGTCGGCCAGGATTTGATACGT
GACTAGCAAGGGGACAAGCCAGGATTTGATATGTGACTAGTGAGGGGTGA
GCCAGGATTTCATATGGGACTAGTAAGGGGTCGGCCAGGATTTGATACGT
GACTAGCAAGGGGACAAGCCAGGATTTGATATGTGACTAGTGAGGGGTGA
GCCAGGATTTCATATGGGACTAGTAAGGGGTCGGCCAGGATTTGATACGT
GACTAGCAAGGGGACAAGCCAGGATTTGATATGTGACTAGTGAGGGGTGA
GCCAGGATTTCATATGGGACTAGTAAGGGGTCGGCCAGGATTTGATACGT
GACTAGCAAGGGGACAAGCCAGGATTTGATATGTGACTAGTGAGGGGTGA
GCCAGGATTTCATATGGGACTAGTAAGGGGTCGGCCAGGATTTGATACGT
GACTAGCAAGGGGACAAGCCAGGATTTGATATGTGACTAGTGAGGGGTGA
GCCAGGATTTCATATGGGACTAATAAGGGGTCGGCCAGGATTTGATACGT
GACTAGCAAGGGGACAAGCCAGGATTTGATATGTGACTAGTGAGGGGTGA
GCCAGGATTTCATATGGGACTAGTAAGGGGTCGGCCAGGATTTGATACGT
GACTAGCAAGGGGACAAGCCAGGATTTGATATGTGACTAGTGAGGGGTGA
GCCAGGATTTCATATGGGACTAGTAAGGGGTCG
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 8828 chr17 510299
chr17:510301 C
C
 G
G
 29 a0001c0001t0015
a0001c0001t0028
a0001c0001t0029
others(26): Show 
a0001c0001t0015
a0001c0001t0028
a0001c0001t0029
a0001c0001t0033
a0001c0001t0087
a0001c0001t0088
a0001c0001t0094
a0001c0001t0095
a0001c0001t0096
a0001c0001t0097
a0001c0001t0098
a0001c0001t0105
a0001c0001t0112
a0001c0001t0127
a0001c0002t0005
a0001c0002t0007
a0001c0002t0048
a0001c0002t0050
a0001c0002t0058
a0001c0002t0086
a0002c0003t0008
a0002c0003t0009
a0002c0003t0027
a0002c0003t0091
a0002c0003t0092
a0002c0003t0093
a0002c0003t0104
a0002c0003t0150
a0003c0004t0005
 47 HG00423.hp2
HG01099.hp1
HG01109.hp2
others(44): Show 
HG00423.hp2
HG01099.hp1
HG01109.hp2
HG01167.hp1
HG01884.hp1
HG01891.hp1
HG01928.hp1
HG01981.hp1
HG02040.hp1
HG02056.hp1
HG02083.hp1
HG02135.hp1
HG02145.hp1
HG02280.hp1
HG02293.hp1
HG02300.hp1
HG02622.hp1
HG02622.hp2
HG02723.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02922.hp2
HG03139.hp2
HG03225.hp1
HG03225.hp2
NA18945.hp1
NA18948.hp2
NA18950.hp1
NA18959.hp2
NA18961.hp1
NA18962.hp2
NA18979.hp1
NA18987.hp1
NA19000.hp1
NA19007.hp1
NA19010.hp1
NA19060.hp1
NA19060.hp2
NA19065.hp1
NA19074.hp1
NA19080.hp2
NA19081.hp1
NA19084.hp2
NA19090.hp1
NA20129.hp1
NA20300.hp2
 3_prime_UTR_variant MODIFIER c.*8827G>C
c.*8827G>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 8827 chr17 510301
chr17:510301 C
C
 T
T
 3 a0001c0002t0049
a0001c0002t0078
a0001c0014t0135
a0001c0002t0049
a0001c0002t0078
a0001c0014t0135
 3 HG02145.hp2
HG02572.hp1
HG03516.hp2
HG02145.hp2
HG02572.hp1
HG03516.hp2
 3_prime_UTR_variant MODIFIER c.*8827G>A
c.*8827G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 8827 chr17 510301
chr17:510302 G
G
 A
A
 16 a0001c0001t0031
a0001c0001t0102
a0001c0001t0134
others(13): Show 
a0001c0001t0031
a0001c0001t0102
a0001c0001t0134
a0001c0002t0010
a0001c0002t0043
a0001c0005t0010
a0001c0005t0019
a0001c0005t0020
a0001c0005t0042
a0001c0005t0044
a0001c0005t0045
a0001c0005t0046
a0001c0011t0051
a0001c0016t0052
a0002c0003t0089
a0003c0004t0047
 20 HG01074.hp2
HG01168.hp2
HG01891.hp2
others(17): Show 
HG01074.hp2
HG01168.hp2
HG01891.hp2
HG02074.hp2
HG02135.hp2
HG02572.hp2
HG02602.hp1
NA18747.hp1
NA18944.hp1
NA18960.hp2
NA18994.hp1
NA18994.hp2
NA19000.hp2
NA19009.hp1
NA19010.hp2
NA19084.hp1
NA19087.hp1
NA19091.hp1
NA20129.hp2
NA20300.hp1
 3_prime_UTR_variant MODIFIER c.*8826C>T
c.*8826C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 8826 chr17 510302
chr17:510302 G
G
 GT
GT
 3 a0001c0002t0049
a0001c0002t0078
a0001c0014t0135
a0001c0002t0049
a0001c0002t0078
a0001c0014t0135
 3 HG02145.hp2
HG02572.hp1
HG03516.hp2
HG02145.hp2
HG02572.hp1
HG03516.hp2
 3_prime_UTR_variant MODIFIER c.*8825_*8826insA
c.*8825_*8826insA
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 8825 chr17 510302
chr17:510302 G
G
 T
T
 29 a0001c0001t0015
a0001c0001t0028
a0001c0001t0029
others(26): Show 
a0001c0001t0015
a0001c0001t0028
a0001c0001t0029
a0001c0001t0033
a0001c0001t0087
a0001c0001t0088
a0001c0001t0094
a0001c0001t0095
a0001c0001t0096
a0001c0001t0097
a0001c0001t0098
a0001c0001t0105
a0001c0001t0112
a0001c0001t0127
a0001c0002t0005
a0001c0002t0007
a0001c0002t0048
a0001c0002t0050
a0001c0002t0058
a0001c0002t0086
a0002c0003t0008
a0002c0003t0009
a0002c0003t0027
a0002c0003t0091
a0002c0003t0092
a0002c0003t0093
a0002c0003t0104
a0002c0003t0150
a0003c0004t0005
 47 HG00423.hp2
HG01099.hp1
HG01109.hp2
others(44): Show 
HG00423.hp2
HG01099.hp1
HG01109.hp2
HG01167.hp1
HG01884.hp1
HG01891.hp1
HG01928.hp1
HG01981.hp1
HG02040.hp1
HG02056.hp1
HG02083.hp1
HG02135.hp1
HG02145.hp1
HG02280.hp1
HG02293.hp1
HG02300.hp1
HG02622.hp1
HG02622.hp2
HG02723.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02922.hp2
HG03139.hp2
HG03225.hp1
HG03225.hp2
NA18945.hp1
NA18948.hp2
NA18950.hp1
NA18959.hp2
NA18961.hp1
NA18962.hp2
NA18979.hp1
NA18987.hp1
NA19000.hp1
NA19007.hp1
NA19010.hp1
NA19060.hp1
NA19060.hp2
NA19065.hp1
NA19074.hp1
NA19080.hp2
NA19081.hp1
NA19084.hp2
NA19090.hp1
NA20129.hp1
NA20300.hp2
 3_prime_UTR_variant MODIFIER c.*8826C>A
c.*8826C>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 8826 chr17 510302
chr17:510303 C
C
 CCCCTCAC
others(26): Show 
CCCCTCACTAGTCACATATCAAATCCTGTCTCAT
 1 a0001c0001t0101
a0001c0001t0101
 1 HG03139.hp1
HG03139.hp1
 3_prime_UTR_variant MODIFIER c.*8824_*8825insATGA
others(29): Show 
c.*8824_*8825insATGAGACAGGATTTGATATGTGACTAGTGAGGG
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 8824 chr17 510303
chr17:510303 C
C
 T
T
 16 a0001c0001t0031
a0001c0001t0102
a0001c0001t0134
others(13): Show 
a0001c0001t0031
a0001c0001t0102
a0001c0001t0134
a0001c0002t0010
a0001c0002t0043
a0001c0005t0010
a0001c0005t0019
a0001c0005t0020
a0001c0005t0042
a0001c0005t0044
a0001c0005t0045
a0001c0005t0046
a0001c0011t0051
a0001c0016t0052
a0002c0003t0089
a0003c0004t0047
 20 HG01074.hp2
HG01168.hp2
HG01891.hp2
others(17): Show 
HG01074.hp2
HG01168.hp2
HG01891.hp2
HG02074.hp2
HG02135.hp2
HG02572.hp2
HG02602.hp1
NA18747.hp1
NA18944.hp1
NA18960.hp2
NA18994.hp1
NA18994.hp2
NA19000.hp2
NA19009.hp1
NA19010.hp2
NA19084.hp1
NA19087.hp1
NA19091.hp1
NA20129.hp2
NA20300.hp1
 3_prime_UTR_variant MODIFIER c.*8825G>A
c.*8825G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 8825 chr17 510303
chr17:510308 C
C
 CACTAGTC
others(158): Show 
CACTAGTCACATATCAAATCCTGGCTCGCCCCTCACTAGTCACATATCAA
ATCCTGGCTCGCCCCTCACTAGTCACATATCAAATCCTGGCTCGCCCCTC
ACTAGTCACATATCAAATCCTGTCTCATCCCTCACTAGTCACATATCAAA
TCTTGGCTGACCCCTT
 1 a0001c0001t0118
a0001c0001t0118
 1 HG01346.hp2
HG01346.hp2
 3_prime_UTR_variant MODIFIER c.*8819_*8820insAAGG
others(161): Show 
c.*8819_*8820insAAGGGGTCAGCCAAGATTTGATATGTGACTAGTG
AGGGATGAGACAGGATTTGATATGTGACTAGTGAGGGGCGAGCCAGGATT
TGATATGTGACTAGTGAGGGGCGAGCCAGGATTTGATATGTGACTAGTGA
GGGGCGAGCCAGGATTTGATATGTGACTAGT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 8819 chr17 510308
chr17:510308 C
C
 CACTAGTC
others(92): Show 
CACTAGTCACATATCAAATCCTGGCTCGCCCCTCACTAGTCACATATCAA
ATCCTGGCTCGCCCCTCACTAGTCACATATCAAATCTTGGCTGACCCCTT
 1 a0001c0001t0108
a0001c0001t0108
 1 HG01192.hp1
HG01192.hp1
 3_prime_UTR_variant MODIFIER c.*8819_*8820insAAGG
others(95): Show 
c.*8819_*8820insAAGGGGTCAGCCAAGATTTGATATGTGACTAGTG
AGGGGCGAGCCAGGATTTGATATGTGACTAGTGAGGGGCGAGCCAGGATT
TGATATGTGACTAGT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 8819 chr17 510308
chr17:510308 C
C
 T
T
 32 a0001c0001t0015
a0001c0001t0028
a0001c0001t0029
others(29): Show 
a0001c0001t0015
a0001c0001t0028
a0001c0001t0029
a0001c0001t0033
a0001c0001t0087
a0001c0001t0088
a0001c0001t0094
a0001c0001t0095
a0001c0001t0096
a0001c0001t0097
a0001c0001t0098
a0001c0001t0105
a0001c0001t0112
a0001c0001t0127
a0001c0002t0005
a0001c0002t0007
a0001c0002t0048
a0001c0002t0049
a0001c0002t0050
a0001c0002t0058
a0001c0002t0078
a0001c0002t0086
a0001c0014t0135
a0002c0003t0008
a0002c0003t0009
a0002c0003t0027
a0002c0003t0091
a0002c0003t0092
a0002c0003t0093
a0002c0003t0104
a0002c0003t0150
a0003c0004t0005
 50 HG00423.hp2
HG01099.hp1
HG01109.hp2
others(47): Show 
HG00423.hp2
HG01099.hp1
HG01109.hp2
HG01167.hp1
HG01884.hp1
HG01891.hp1
HG01928.hp1
HG01981.hp1
HG02040.hp1
HG02056.hp1
HG02083.hp1
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02280.hp1
HG02293.hp1
HG02300.hp1
HG02572.hp1
HG02622.hp1
HG02622.hp2
HG02723.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02922.hp2
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03516.hp2
NA18945.hp1
NA18948.hp2
NA18950.hp1
NA18959.hp2
NA18961.hp1
NA18962.hp2
NA18979.hp1
NA18987.hp1
NA19000.hp1
NA19007.hp1
NA19010.hp1
NA19060.hp1
NA19060.hp2
NA19065.hp1
NA19074.hp1
NA19080.hp2
NA19081.hp1
NA19084.hp2
NA19090.hp1
NA20129.hp1
NA20300.hp2
 3_prime_UTR_variant MODIFIER c.*8820G>A
c.*8820G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 8820 chr17 510308
chr17:510309 A
A
 G
G
 32 a0001c0001t0015
a0001c0001t0028
a0001c0001t0029
others(29): Show 
a0001c0001t0015
a0001c0001t0028
a0001c0001t0029
a0001c0001t0033
a0001c0001t0087
a0001c0001t0088
a0001c0001t0094
a0001c0001t0095
a0001c0001t0096
a0001c0001t0097
a0001c0001t0098
a0001c0001t0105
a0001c0001t0112
a0001c0001t0127
a0001c0002t0005
a0001c0002t0007
a0001c0002t0048
a0001c0002t0049
a0001c0002t0050
a0001c0002t0058
a0001c0002t0078
a0001c0002t0086
a0001c0014t0135
a0002c0003t0008
a0002c0003t0009
a0002c0003t0027
a0002c0003t0091
a0002c0003t0092
a0002c0003t0093
a0002c0003t0104
a0002c0003t0150
a0003c0004t0005
 50 HG00423.hp2
HG01099.hp1
HG01109.hp2
others(47): Show 
HG00423.hp2
HG01099.hp1
HG01109.hp2
HG01167.hp1
HG01884.hp1
HG01891.hp1
HG01928.hp1
HG01981.hp1
HG02040.hp1
HG02056.hp1
HG02083.hp1
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02280.hp1
HG02293.hp1
HG02300.hp1
HG02572.hp1
HG02622.hp1
HG02622.hp2
HG02723.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02922.hp2
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03516.hp2
NA18945.hp1
NA18948.hp2
NA18950.hp1
NA18959.hp2
NA18961.hp1
NA18962.hp2
NA18979.hp1
NA18987.hp1
NA19000.hp1
NA19007.hp1
NA19010.hp1
NA19060.hp1
NA19060.hp2
NA19065.hp1
NA19074.hp1
NA19080.hp2
NA19081.hp1
NA19084.hp2
NA19090.hp1
NA20129.hp1
NA20300.hp2
 3_prime_UTR_variant MODIFIER c.*8819T>C
c.*8819T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 8819 chr17 510309
chr17:510311 T
T
 C
C
 43 a0001c0001t0002
a0001c0001t0011
a0001c0001t0016
others(40): Show 
a0001c0001t0002
a0001c0001t0011
a0001c0001t0016
a0001c0001t0032
a0001c0001t0034
a0001c0001t0069
a0001c0001t0107
a0001c0001t0110
a0001c0001t0113
a0001c0001t0114
a0001c0001t0115
a0001c0001t0116
a0001c0001t0117
a0001c0001t0119
a0001c0001t0122
a0001c0001t0128
a0001c0001t0138
a0001c0001t0141
a0001c0002t0109
a0001c0006t0041
a0001c0007t0011
a0001c0007t0012
a0001c0007t0023
a0001c0007t0062
a0001c0007t0070
a0001c0015t0126
a0002c0003t0018
a0002c0003t0036
a0002c0003t0037
a0002c0003t0131
a0002c0003t0136
a0002c0003t0139
a0002c0003t0140
a0002c0003t0144
a0002c0003t0145
a0002c0003t0146
a0002c0003t0148
a0004c0008t0036
a0005c0009t0130
a0005c0009t0137
a0005c0009t0147
a0006c0012t0129
a0007c0013t0132
 62 HG00099.hp1
HG00323.hp2
HG00423.hp1
others(59): Show 
HG00099.hp1
HG00323.hp2
HG00423.hp1
HG00621.hp1
HG00741.hp2
HG01070.hp2
HG01071.hp1
HG01081.hp2
HG01106.hp2
HG01109.hp1
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01361.hp2
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01928.hp2
HG01978.hp2
HG02040.hp2
HG02056.hp2
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02293.hp2
HG02300.hp2
HG02602.hp2
HG02723.hp1
HG02738.hp2
HG02895.hp1
HG02922.hp1
HG03492.hp2
HG03688.hp2
HG03831.hp1
HG03942.hp1
HG04199.hp1
HG04204.hp1
NA18940.hp2
NA18945.hp2
NA18946.hp1
NA18955.hp1
NA18967.hp2
NA18978.hp2
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18986.hp1
NA18987.hp2
NA19009.hp2
NA19065.hp2
NA19066.hp2
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19079.hp2
NA19090.hp2
 3_prime_UTR_variant MODIFIER c.*8817A>G
c.*8817A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 8817 chr17 510311
chr17:510318 A
A
 ATATCAAA
others(293): Show 
ATATCAAATCCTGGCCGACCCCTTACTAGTCCCATATGAAATCCTGGCTC
ACCCCTCACTAGTCACATATCAAATCCTGGCTTGTCCCCTTGCTAGTCAC
GTATCAAATCCTGGCCGACCCCTTACTAGTCCCATATGAAATCCTGGCTC
ACCCCTCACTAGTCACATATCAAATCCTGGCTTGTCCCCTTGCTAGTCAC
GTATCAAATCCTGGCCGACCCCTTACTAGTCCCATATGAAATCCTGGCTC
ACCCCTCACTAGTCACATATCAAATCCTGGCTTGTCCCCTTGCTAGTCAC
G
 2 a0002c0003t0085
a0002c0003t0090
a0002c0003t0085
a0002c0003t0090
 2 HG03491.hp2
NA18612.hp1
HG03491.hp2
NA18612.hp1
 3_prime_UTR_variant MODIFIER c.*8809_*8810insCGTG
others(296): Show 
c.*8809_*8810insCGTGACTAGCAAGGGGACAAGCCAGGATTTGATA
TGTGACTAGTGAGGGGTGAGCCAGGATTTCATATGGGACTAGTAAGGGGT
CGGCCAGGATTTGATACGTGACTAGCAAGGGGACAAGCCAGGATTTGATA
TGTGACTAGTGAGGGGTGAGCCAGGATTTCATATGGGACTAGTAAGGGGT
CGGCCAGGATTTGATACGTGACTAGCAAGGGGACAAGCCAGGATTTGATA
TGTGACTAGTGAGGGGTGAGCCAGGATTTCATATGGGACTAGTAAGGGGT
CGGCCAGGATTTGATA
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 8809 chr17 510318
chr17:510318 A
A
 ATATCAAA
others(893): Show 
ATATCAAATCCTGGCCGACCCCTTACTAGTCCCATATGAAATCCTGGCTC
ACCCCTCACTAGTCACATATCAAATCCTGGCTTGTCCCCTTGCTAGTCAC
GTATCAAATCCTGGCCGACCCCTTACTAGTCCCATATGAAATCCTGGCTC
ACCCCTCACTAGTCACATATCAAATCCTGGCTTGTCCCCTTGCTAGTCAC
GTATCAAATCCTGGCCGACCCCTTACTAGTCCCATATGAAATCCTGGCTC
ACCCCTCACTAGTCACATATCAAATCCTGGCTTGTCCCCTTGCTAGTCAC
GTATCAAATCCTGGCCGACCCCTTACTAGTCCCATATGAAATCCTGGCTC
ACCCCTCACTAGTCACATATCAAATCCTGGCTTGTCCCCTTGCTAGTCAC
GTATCAAATCCTGGCCGACCCCTTACTAGTCCCATATGAAATCCTGGCTC
ACCCCTCACTAGTCACATATCAAATCCTGGCTTGTCCCCTTGCTAGTCAC
GTATCAAATCCTGGCCGACCCCTTACTAGTCCCATATGAAATCCTGGCTC
ACCCCTCACTAGTCACATATCAAATCCTGGCTTGTCCCCTTGCTAGTCAC
GTATCAAATCCTGGCCGACCCCTTACTAGTCCCATATGAAATCCTGGCTC
ACCCCTCACTAGTCACATATCAAATCCTGGCTTGTCCCCTTGCTAGTCAC
GTATCAAATCCTGGCCGACCCCTTACTAGTCCCATATGAAATCCTGGCTC
ACCCCTCACTAGTCACATATCAAATCCTGGCTTGTCCCCTTGCTAGTCAC
GTATCAAATCCTGGCCGACCCCTTACTAGTCCCATATGAAATCCTGGCTC
ACCCCTCACTAGTCACATATCAAATCCTGGCTTGTCCCCTTGCTAGTCAC
G
 1 a0001c0001t0111
a0001c0001t0111
 1 HG02895.hp2
HG02895.hp2
 3_prime_UTR_variant MODIFIER c.*8809_*8810insCGTG
others(896): Show 
c.*8809_*8810insCGTGACTAGCAAGGGGACAAGCCAGGATTTGATA
TGTGACTAGTGAGGGGTGAGCCAGGATTTCATATGGGACTAGTAAGGGGT
CGGCCAGGATTTGATACGTGACTAGCAAGGGGACAAGCCAGGATTTGATA
TGTGACTAGTGAGGGGTGAGCCAGGATTTCATATGGGACTAGTAAGGGGT
CGGCCAGGATTTGATACGTGACTAGCAAGGGGACAAGCCAGGATTTGATA
TGTGACTAGTGAGGGGTGAGCCAGGATTTCATATGGGACTAGTAAGGGGT
CGGCCAGGATTTGATACGTGACTAGCAAGGGGACAAGCCAGGATTTGATA
TGTGACTAGTGAGGGGTGAGCCAGGATTTCATATGGGACTAGTAAGGGGT
CGGCCAGGATTTGATACGTGACTAGCAAGGGGACAAGCCAGGATTTGATA
TGTGACTAGTGAGGGGTGAGCCAGGATTTCATATGGGACTAGTAAGGGGT
CGGCCAGGATTTGATACGTGACTAGCAAGGGGACAAGCCAGGATTTGATA
TGTGACTAGTGAGGGGTGAGCCAGGATTTCATATGGGACTAGTAAGGGGT
CGGCCAGGATTTGATACGTGACTAGCAAGGGGACAAGCCAGGATTTGATA
TGTGACTAGTGAGGGGTGAGCCAGGATTTCATATGGGACTAGTAAGGGGT
CGGCCAGGATTTGATACGTGACTAGCAAGGGGACAAGCCAGGATTTGATA
TGTGACTAGTGAGGGGTGAGCCAGGATTTCATATGGGACTAGTAAGGGGT
CGGCCAGGATTTGATACGTGACTAGCAAGGGGACAAGCCAGGATTTGATA
TGTGACTAGTGAGGGGTGAGCCAGGATTTCATATGGGACTAGTAAGGGGT
CGGCCAGGATTTGATA
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 8809 chr17 510318
chr17:510318 A
A
 ATATCAAA
others(126): Show 
ATATCAAATCCTGTCTCATCCCTCACTAGTCACATATCAAATCTTGGCTG
ACCCCTTACTAGTCACATATCGAATCCTGGCTCACCCCTCACTAGTCACA
TATCAAATCCTGGCTTGTCCCCTTGCTAGTCACG
 13 a0001c0002t0022
a0001c0002t0055
a0001c0002t0100
others(10): Show 
a0001c0002t0022
a0001c0002t0055
a0001c0002t0100
a0003c0004t0004
a0003c0004t0006
a0003c0004t0022
a0003c0004t0054
a0003c0004t0056
a0003c0004t0059
a0003c0004t0060
a0003c0004t0061
a0003c0004t0063
a0004c0008t0103
 22 HG02074.hp1
HG03831.hp2
NA18612.hp2
others(19): Show 
HG02074.hp1
HG03831.hp2
NA18612.hp2
NA18906.hp2
NA18940.hp1
NA18944.hp2
NA18950.hp2
NA18957.hp1
NA18959.hp1
NA18961.hp2
NA18962.hp1
NA18973.hp2
NA18977.hp1
NA18978.hp1
NA18984.hp1
NA18986.hp2
NA18990.hp1
NA19011.hp2
NA19064.hp1
NA19080.hp1
NA19087.hp2
NA19091.hp2
 3_prime_UTR_variant MODIFIER c.*8809_*8810insCGTG
others(129): Show 
c.*8809_*8810insCGTGACTAGCAAGGGGACAAGCCAGGATTTGATA
TGTGACTAGTGAGGGGTGAGCCAGGATTCGATATGTGACTAGTAAGGGGT
CAGCCAAGATTTGATATGTGACTAGTGAGGGATGAGACAGGATTTGATA
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 8809 chr17 510318
chr17:510318 A
A
 G
G
 32 a0001c0001t0015
a0001c0001t0028
a0001c0001t0029
others(29): Show 
a0001c0001t0015
a0001c0001t0028
a0001c0001t0029
a0001c0001t0033
a0001c0001t0087
a0001c0001t0088
a0001c0001t0094
a0001c0001t0095
a0001c0001t0096
a0001c0001t0097
a0001c0001t0098
a0001c0001t0105
a0001c0001t0112
a0001c0001t0127
a0001c0002t0005
a0001c0002t0007
a0001c0002t0048
a0001c0002t0049
a0001c0002t0050
a0001c0002t0058
a0001c0002t0078
a0001c0002t0086
a0001c0014t0135
a0002c0003t0008
a0002c0003t0009
a0002c0003t0027
a0002c0003t0091
a0002c0003t0092
a0002c0003t0093
a0002c0003t0104
a0002c0003t0150
a0003c0004t0005
 50 HG00423.hp2
HG01099.hp1
HG01109.hp2
others(47): Show 
HG00423.hp2
HG01099.hp1
HG01109.hp2
HG01167.hp1
HG01884.hp1
HG01891.hp1
HG01928.hp1
HG01981.hp1
HG02040.hp1
HG02056.hp1
HG02083.hp1
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02280.hp1
HG02293.hp1
HG02300.hp1
HG02572.hp1
HG02622.hp1
HG02622.hp2
HG02723.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02922.hp2
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03516.hp2
NA18945.hp1
NA18948.hp2
NA18950.hp1
NA18959.hp2
NA18961.hp1
NA18962.hp2
NA18979.hp1
NA18987.hp1
NA19000.hp1
NA19007.hp1
NA19010.hp1
NA19060.hp1
NA19060.hp2
NA19065.hp1
NA19074.hp1
NA19080.hp2
NA19081.hp1
NA19084.hp2
NA19090.hp1
NA20129.hp1
NA20300.hp2
 3_prime_UTR_variant MODIFIER c.*8810T>C
c.*8810T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 8810 chr17 510318
chr17:510328 T
T
 C
C
 101 a0001c0001t0002
a0001c0001t0011
a0001c0001t0015
others(98): Show 
a0001c0001t0002
a0001c0001t0011
a0001c0001t0015
a0001c0001t0016
a0001c0001t0028
a0001c0001t0029
a0001c0001t0030
a0001c0001t0032
a0001c0001t0033
a0001c0001t0034
a0001c0001t0069
a0001c0001t0084
a0001c0001t0087
a0001c0001t0088
a0001c0001t0094
a0001c0001t0095
a0001c0001t0096
a0001c0001t0097
a0001c0001t0098
a0001c0001t0105
a0001c0001t0106
a0001c0001t0107
a0001c0001t0110
a0001c0001t0111
a0001c0001t0112
a0001c0001t0113
a0001c0001t0114
a0001c0001t0115
a0001c0001t0116
a0001c0001t0117
a0001c0001t0119
a0001c0001t0120
a0001c0001t0122
a0001c0001t0127
a0001c0001t0128
a0001c0001t0138
a0001c0001t0141
a0001c0002t0005
a0001c0002t0007
a0001c0002t0022
a0001c0002t0048
a0001c0002t0049
a0001c0002t0050
a0001c0002t0055
a0001c0002t0058
a0001c0002t0078
a0001c0002t0086
a0001c0002t0100
a0001c0002t0109
a0001c0006t0021
a0001c0006t0039
a0001c0006t0040
a0001c0006t0041
a0001c0006t0053
a0001c0006t0057
a0001c0007t0011
a0001c0007t0012
a0001c0007t0023
a0001c0007t0062
a0001c0007t0070
a0001c0014t0135
a0001c0015t0126
a0002c0003t0008
a0002c0003t0009
a0002c0003t0018
a0002c0003t0027
a0002c0003t0036
a0002c0003t0037
a0002c0003t0085
a0002c0003t0090
a0002c0003t0091
a0002c0003t0092
a0002c0003t0093
a0002c0003t0099
a0002c0003t0104
a0002c0003t0131
a0002c0003t0136
a0002c0003t0139
a0002c0003t0140
a0002c0003t0144
a0002c0003t0145
a0002c0003t0146
a0002c0003t0148
a0002c0003t0150
a0003c0004t0004
a0003c0004t0005
a0003c0004t0006
a0003c0004t0022
a0003c0004t0054
a0003c0004t0056
a0003c0004t0059
a0003c0004t0060
a0003c0004t0061
a0003c0004t0063
a0004c0008t0036
a0004c0008t0103
a0005c0009t0130
a0005c0009t0137
a0005c0009t0147
a0006c0012t0129
a0007c0013t0132
 149 HG00099.hp1
HG00099.hp2
HG00280.hp2
others(146): Show 
HG00099.hp1
HG00099.hp2
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp2
HG00621.hp1
HG00741.hp2
HG01070.hp2
HG01071.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01361.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01928.hp1
HG01928.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02056.hp1
HG02056.hp2
HG02074.hp1
HG02083.hp1
HG02083.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02572.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG04184.hp2
HG04199.hp1
HG04204.hp1
NA18612.hp1
NA18612.hp2
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18955.hp1
NA18957.hp1
NA18959.hp1
NA18959.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18967.hp2
NA18973.hp2
NA18977.hp1
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18990.hp1
NA19000.hp1
NA19007.hp1
NA19009.hp2
NA19010.hp1
NA19011.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19065.hp1
NA19065.hp2
NA19066.hp2
NA19068.hp2
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19084.hp2
NA19087.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp2
NA20129.hp1
NA20300.hp2
 3_prime_UTR_variant MODIFIER c.*8800A>G
c.*8800A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 8800 chr17 510328
chr17:510333 T
T
 C
C
 48 a0001c0001t0015
a0001c0001t0028
a0001c0001t0029
others(45): Show 
a0001c0001t0015
a0001c0001t0028
a0001c0001t0029
a0001c0001t0033
a0001c0001t0087
a0001c0001t0088
a0001c0001t0094
a0001c0001t0095
a0001c0001t0096
a0001c0001t0097
a0001c0001t0098
a0001c0001t0105
a0001c0001t0111
a0001c0001t0112
a0001c0001t0127
a0001c0002t0005
a0001c0002t0007
a0001c0002t0022
a0001c0002t0048
a0001c0002t0049
a0001c0002t0050
a0001c0002t0055
a0001c0002t0058
a0001c0002t0078
a0001c0002t0086
a0001c0002t0100
a0001c0014t0135
a0002c0003t0008
a0002c0003t0009
a0002c0003t0027
a0002c0003t0085
a0002c0003t0090
a0002c0003t0091
a0002c0003t0092
a0002c0003t0093
a0002c0003t0104
a0002c0003t0150
a0003c0004t0004
a0003c0004t0005
a0003c0004t0006
a0003c0004t0022
a0003c0004t0054
a0003c0004t0056
a0003c0004t0059
a0003c0004t0060
a0003c0004t0061
a0003c0004t0063
a0004c0008t0103
 75 HG00423.hp2
HG01099.hp1
HG01109.hp2
others(72): Show 
HG00423.hp2
HG01099.hp1
HG01109.hp2
HG01167.hp1
HG01884.hp1
HG01891.hp1
HG01928.hp1
HG01981.hp1
HG02040.hp1
HG02056.hp1
HG02074.hp1
HG02083.hp1
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02280.hp1
HG02293.hp1
HG02300.hp1
HG02572.hp1
HG02622.hp1
HG02622.hp2
HG02723.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp2
HG02922.hp2
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03491.hp2
HG03516.hp2
HG03831.hp2
NA18612.hp1
NA18612.hp2
NA18906.hp2
NA18940.hp1
NA18944.hp2
NA18945.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18957.hp1
NA18959.hp1
NA18959.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18973.hp2
NA18977.hp1
NA18978.hp1
NA18979.hp1
NA18984.hp1
NA18986.hp2
NA18987.hp1
NA18990.hp1
NA19000.hp1
NA19007.hp1
NA19010.hp1
NA19011.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19065.hp1
NA19074.hp1
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19084.hp2
NA19087.hp2
NA19090.hp1
NA19091.hp2
NA20129.hp1
NA20300.hp2
 3_prime_UTR_variant MODIFIER c.*8795A>G
c.*8795A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 8795 chr17 510333
chr17:510333 T
T
 TCGCCCCT
others(523): Show 
TCGCCCCTCACCAGTCACATATCAAATCCTGGCTCGCCCCTCACCAGTCA
CATATCAAATCCTGGCTCGCCCCTCACCAGTCACATATCAAATCCTGGCT
CGCCCCTCACCAGTCACATATCAAATCCTGGCTCGCCCCTCACCAGTCAC
ATATCAAATCCTGGCTCGCCCCTCACCAGTCACATATCAAATCCTGGCTC
GCCCCTCACTAGTCACATATCAAATCCTGGCTCGCCCCTCACTAGTCACA
TATCAAATCCTGGCTCGCCCCTCACTAGTCACATATCAAATCCTGTCTCA
TCCCTCACTAGTCACATATCAAATCTTGGCTGACCCCTTACTAGTCACAT
ATCGAATCCTGGCTCACCCCTCACTAGTCACATATCAAATCCTGGCTTGT
CCCCTTGCTAGTCACGTATCAAATCCTGGCCGACCCCTTACTAGTCACAT
ATCGAATCCTGGCTCACCCCTCACTAGTCACATATCAAATCCTGGCTTGT
CCCCTTGCTAGTCACGTATCAAATCCTGGCC
 1 a0005c0009t0137
a0005c0009t0137
 1 NA18955.hp1
NA18955.hp1
 3_prime_UTR_variant MODIFIER c.*8794_*8795insGGCC
others(526): Show 
c.*8794_*8795insGGCCAGGATTTGATACGTGACTAGCAAGGGGACA
AGCCAGGATTTGATATGTGACTAGTGAGGGGTGAGCCAGGATTCGATATG
TGACTAGTAAGGGGTCGGCCAGGATTTGATACGTGACTAGCAAGGGGACA
AGCCAGGATTTGATATGTGACTAGTGAGGGGTGAGCCAGGATTCGATATG
TGACTAGTAAGGGGTCAGCCAAGATTTGATATGTGACTAGTGAGGGATGA
GACAGGATTTGATATGTGACTAGTGAGGGGCGAGCCAGGATTTGATATGT
GACTAGTGAGGGGCGAGCCAGGATTTGATATGTGACTAGTGAGGGGCGAG
CCAGGATTTGATATGTGACTGGTGAGGGGCGAGCCAGGATTTGATATGTG
ACTGGTGAGGGGCGAGCCAGGATTTGATATGTGACTGGTGAGGGGCGAGC
CAGGATTTGATATGTGACTGGTGAGGGGCGAGCCAGGATTTGATATGTGA
CTGGTGAGGGGCGAGCCAGGATTTGATATGTGACTGGTGAGGGGCG
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 8794 chr17 510333
chr17:510333 T
T
 TCGCCCCT
others(490): Show 
TCGCCCCTCACCAGTCACATATCAAATCCTGGCTCGCCCCTCACCAGTCA
CATATCAAATCCTGGCTCGCCCCTCACCAGTCACATATCAAATCCTGGCT
CGCCCCTCACCAGTCACATATCAAATCCTGGCTCGCCCCTCACCAGTCAC
ATATCAAATCCTGGCTCGCCCCTCACTAGTCACATATCAAATCCTGGCTC
GCCCCTCACTAGTCACATATCAAATCCTGGCTCGCCCCTCACTAGTCACA
TATCAAATCCTGTCTCATCCCTCACTAGTCACATATCAAATCTTGGCTGA
CCCCTTACTAGTCACATATCGAATCCTGGCTCACCCCTCACTAGTCACAT
ATCAAATCCTGGCTTGTCCCCTTGCTAGTCACGTATCAAATCCTGGCCGA
CCCCTTACTAGTCACATATCGAATCCTGGCTCACCCCTCACTAGTCACAT
ATCAAATCCTGGCTTGTCCCCTTGCTAGTCACGTATCAAATCCTGGCC
 2 a0005c0009t0130
a0005c0009t0147
a0005c0009t0130
a0005c0009t0147
 2 NA18946.hp1
NA19066.hp2
NA18946.hp1
NA19066.hp2
 3_prime_UTR_variant MODIFIER c.*8794_*8795insGGCC
others(493): Show 
c.*8794_*8795insGGCCAGGATTTGATACGTGACTAGCAAGGGGACA
AGCCAGGATTTGATATGTGACTAGTGAGGGGTGAGCCAGGATTCGATATG
TGACTAGTAAGGGGTCGGCCAGGATTTGATACGTGACTAGCAAGGGGACA
AGCCAGGATTTGATATGTGACTAGTGAGGGGTGAGCCAGGATTCGATATG
TGACTAGTAAGGGGTCAGCCAAGATTTGATATGTGACTAGTGAGGGATGA
GACAGGATTTGATATGTGACTAGTGAGGGGCGAGCCAGGATTTGATATGT
GACTAGTGAGGGGCGAGCCAGGATTTGATATGTGACTAGTGAGGGGCGAG
CCAGGATTTGATATGTGACTGGTGAGGGGCGAGCCAGGATTTGATATGTG
ACTGGTGAGGGGCGAGCCAGGATTTGATATGTGACTGGTGAGGGGCGAGC
CAGGATTTGATATGTGACTGGTGAGGGGCGAGCCAGGATTTGATATGTGA
CTGGTGAGGGGCG
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 8794 chr17 510333
chr17:510333 T
T
 TCGCCCCT
others(457): Show 
TCGCCCCTCACCAGTCACATATCAAATCCTGGCTCGCCCCTCACCAGTCA
CATATCAAATCCTGGCTCGCCCCTCACCAGTCACATATCAAATCCTGGCT
CGCCCCTCACCAGTCACATATCAAATCCTGGCTCGCCCCTCACTAGTCAC
ATATCAAATCCTGGCTCGCCCCTCACTAGTCACATATCAAATCCTGGCTC
GCCCCTCACTAGTCACATATCAAATCCTGTCTCATCCCTCACTAGTCACA
TATCAAATCTTGGCTGACCCCTTACTAGTCACATATCGAATCCTGGCTCA
CCCCTCACTAGTCACATATCAAATCCTGGCTTGTCCCCTTGCTAGTCACG
TATCAAATCCTGGCCGACCCCTTACTAGTCACATATCGAATCCTGGCTCA
CCCCTCACTAGTCACATATCAAATCCTGGCTTGTCCCCTTGCTAGTCACG
TATCAAATCCTGGCC
 4 a0002c0003t0036
a0002c0003t0144
a0002c0003t0148
others(1): Show 
a0002c0003t0036
a0002c0003t0144
a0002c0003t0148
a0004c0008t0036
 4 HG00323.hp2
HG00423.hp1
HG02738.hp2
others(1): Show 
HG00323.hp2
HG00423.hp1
HG02738.hp2
NA18979.hp2
 3_prime_UTR_variant MODIFIER c.*8794_*8795insGGCC
others(460): Show 
c.*8794_*8795insGGCCAGGATTTGATACGTGACTAGCAAGGGGACA
AGCCAGGATTTGATATGTGACTAGTGAGGGGTGAGCCAGGATTCGATATG
TGACTAGTAAGGGGTCGGCCAGGATTTGATACGTGACTAGCAAGGGGACA
AGCCAGGATTTGATATGTGACTAGTGAGGGGTGAGCCAGGATTCGATATG
TGACTAGTAAGGGGTCAGCCAAGATTTGATATGTGACTAGTGAGGGATGA
GACAGGATTTGATATGTGACTAGTGAGGGGCGAGCCAGGATTTGATATGT
GACTAGTGAGGGGCGAGCCAGGATTTGATATGTGACTAGTGAGGGGCGAG
CCAGGATTTGATATGTGACTGGTGAGGGGCGAGCCAGGATTTGATATGTG
ACTGGTGAGGGGCGAGCCAGGATTTGATATGTGACTGGTGAGGGGCGAGC
CAGGATTTGATATGTGACTGGTGAGGGGCG
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 8794 chr17 510333
chr17:510333 T
T
 TCGCCCCT
others(424): Show 
TCGCCCCTCACCAGTCACATATCAAATCCTGGCTCGCCCCTCACCAGTCA
CATATCAAATCCTGGCTCGCCCCTCACCAGTCACATATCAAATCCTGGCT
CGCCCCTCACTAGTCACATATCAAATCCTGGCTCGCCCCTCACTAGTCAC
ATATCAAATCCTGGCTCGCCCCTCACTAGTCACATATCAAATCCTGTCTC
ATCCCTCACTAGTCACATATCAAATCTTGGCTGACCCCTTACTAGTCACA
TATCGAATCCTGGCTCACCCCTCACTAGTCACATATCAAATCCTGGCTTG
TCCCCTTGCTAGTCACGTATCAAATCCTGGCCGACCCCTTACTAGTCACA
TATCGAATCCTGGCTCACCCCTCACTAGTCACATATCAAATCCTGGCTTG
TCCCCTTGCTAGTCACGTATCAAATCCTGGCC
 3 a0002c0003t0131
a0002c0003t0140
a0002c0003t0145
a0002c0003t0131
a0002c0003t0140
a0002c0003t0145
 3 HG01070.hp2
HG01071.hp1
HG04199.hp1
HG01070.hp2
HG01071.hp1
HG04199.hp1
 3_prime_UTR_variant MODIFIER c.*8794_*8795insGGCC
others(427): Show 
c.*8794_*8795insGGCCAGGATTTGATACGTGACTAGCAAGGGGACA
AGCCAGGATTTGATATGTGACTAGTGAGGGGTGAGCCAGGATTCGATATG
TGACTAGTAAGGGGTCGGCCAGGATTTGATACGTGACTAGCAAGGGGACA
AGCCAGGATTTGATATGTGACTAGTGAGGGGTGAGCCAGGATTCGATATG
TGACTAGTAAGGGGTCAGCCAAGATTTGATATGTGACTAGTGAGGGATGA
GACAGGATTTGATATGTGACTAGTGAGGGGCGAGCCAGGATTTGATATGT
GACTAGTGAGGGGCGAGCCAGGATTTGATATGTGACTAGTGAGGGGCGAG
CCAGGATTTGATATGTGACTGGTGAGGGGCGAGCCAGGATTTGATATGTG
ACTGGTGAGGGGCGAGCCAGGATTTGATATGTGACTGGTGAGGGGCG
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 8794 chr17 510333
chr17:510333 T
T
 TCGCCCCT
others(391): Show 
TCGCCCCTCACCAGTCACATATCAAATCCTGGCTCGCCCCTCACCAGTCA
CATATCAAATCCTGGCTCGCCCCTCACCAGTCACATATCAAATCCTGGCT
CGCCCCTCACTAGTCACATATCAAATCCTGGCTCGCCCCTCACTAGTCAC
ATATCAAATCCTGTCTCATCCCTCACTAGTCACATATCAAATCTTGGCTG
ACCCCTTACTAGTCACATATCGAATCCTGGCTCACCCCTCACTAGTCACA
TATCAAATCCTGGCTTGTCCCCTTGCTAGTCACGTATCAAATCCTGGCCG
ACCCCTTACTAGTCACATATCGAATCCTGGCTCACCCCTCACTAGTCACA
TATCAAATCCTGGCTTGTCCCCTTGCTAGTCACGTATCAAATCCTGGCC
 3 a0001c0001t0034
a0001c0001t0141
a0001c0006t0041
a0001c0001t0034
a0001c0001t0141
a0001c0006t0041
 4 HG01106.hp2
HG01109.hp1
HG01175.hp1
others(1): Show 
HG01106.hp2
HG01109.hp1
HG01175.hp1
HG01256.hp2
 3_prime_UTR_variant MODIFIER c.*8794_*8795insGGCC
others(394): Show 
c.*8794_*8795insGGCCAGGATTTGATACGTGACTAGCAAGGGGACA
AGCCAGGATTTGATATGTGACTAGTGAGGGGTGAGCCAGGATTCGATATG
TGACTAGTAAGGGGTCGGCCAGGATTTGATACGTGACTAGCAAGGGGACA
AGCCAGGATTTGATATGTGACTAGTGAGGGGTGAGCCAGGATTCGATATG
TGACTAGTAAGGGGTCAGCCAAGATTTGATATGTGACTAGTGAGGGATGA
GACAGGATTTGATATGTGACTAGTGAGGGGCGAGCCAGGATTTGATATGT
GACTAGTGAGGGGCGAGCCAGGATTTGATATGTGACTGGTGAGGGGCGAG
CCAGGATTTGATATGTGACTGGTGAGGGGCGAGCCAGGATTTGATATGTG
ACTGGTGAGGGGCG
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 8794 chr17 510333
chr17:510333 T
T
 TCGCCCCT
others(391): Show 
TCGCCCCTCACCAGTCACATATCAAATCCTGGCTCGCCCCTCACCAGTCA
CATATCAAATCCTGGCTCGCCCCTCACCAGTCACATATCAAATCCTGGCT
CGCCCCTCACTAGTCACATATCAAATCCTGGCTCGCCCCTCACTAGTCAC
ATATCAAATCCTGTCTCATCCCTCACTAGTCACATTTCAAATCTTGGCTG
ACCCCTTACTAGTCACATATCGAATCCTGGCTCACCCCTCACTAGTCACA
TATCAAATCCTGGCTTGTCCCCTTGCTAGTCACGTATCAAATCCTGGCCG
ACCCCTTACTAGTCACATATCGAATCCTGGCTCACCCCTCACTAGTCACA
TATCAAATCCTGGCTTGTCCCCTTGCTAGTCACGTATCAAATCCTGGCC
 2 a0001c0001t0122
a0001c0001t0138
a0001c0001t0122
a0001c0001t0138
 2 HG01257.hp1
HG01258.hp2
HG01257.hp1
HG01258.hp2
 3_prime_UTR_variant MODIFIER c.*8794_*8795insGGCC
others(394): Show 
c.*8794_*8795insGGCCAGGATTTGATACGTGACTAGCAAGGGGACA
AGCCAGGATTTGATATGTGACTAGTGAGGGGTGAGCCAGGATTCGATATG
TGACTAGTAAGGGGTCGGCCAGGATTTGATACGTGACTAGCAAGGGGACA
AGCCAGGATTTGATATGTGACTAGTGAGGGGTGAGCCAGGATTCGATATG
TGACTAGTAAGGGGTCAGCCAAGATTTGAAATGTGACTAGTGAGGGATGA
GACAGGATTTGATATGTGACTAGTGAGGGGCGAGCCAGGATTTGATATGT
GACTAGTGAGGGGCGAGCCAGGATTTGATATGTGACTGGTGAGGGGCGAG
CCAGGATTTGATATGTGACTGGTGAGGGGCGAGCCAGGATTTGATATGTG
ACTGGTGAGGGGCG
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 8794 chr17 510333
chr17:510333 T
T
 TCGCCCCT
others(391): Show 
TCGCCCCTCACCAGTCACATATCAAATCCTGGCTCGCCCCTCACCAGTCA
CATATCAAATCCTGGCTCGCCCCTCACTAGTCACATATCAAATCCTGGCT
CGCCCCTCACTAGTCACATATCAAATCCTGGCTCGCCCCTCACTAGTCAC
ATATCAAATCCTGTCTCATCCCTCACTAGTCACATATCAAATCTTGGCTG
ACCCCTTACTAGTCACATATCGAATCCTGGCTCACCCCTCACTAGTCACA
TATCAAATCCTGGCTTGTCCCCTTGCTAGTCACGTATCAAATCCTGGCCG
ACCCCTTACTAGTCACATATCGAATCCTGGCTCACCCCTCACTAGTCACA
TATCAAATCCTGGCTTGTCCCCTTGCTAGTCACGTATCAAATCCTGGCC
 8 a0001c0001t0032
a0001c0015t0126
a0002c0003t0018
others(5): Show 
a0001c0001t0032
a0001c0015t0126
a0002c0003t0018
a0002c0003t0037
a0002c0003t0136
a0002c0003t0139
a0002c0003t0146
a0007c0013t0132
 12 HG00621.hp1
HG02129.hp1
HG02132.hp1
others(9): Show 
HG00621.hp1
HG02129.hp1
HG02132.hp1
HG02723.hp1
HG02895.hp1
HG02922.hp1
HG03831.hp1
HG03942.hp1
HG04204.hp1
NA18983.hp1
NA18986.hp1
NA19090.hp2
 3_prime_UTR_variant MODIFIER c.*8794_*8795insGGCC
others(394): Show 
c.*8794_*8795insGGCCAGGATTTGATACGTGACTAGCAAGGGGACA
AGCCAGGATTTGATATGTGACTAGTGAGGGGTGAGCCAGGATTCGATATG
TGACTAGTAAGGGGTCGGCCAGGATTTGATACGTGACTAGCAAGGGGACA
AGCCAGGATTTGATATGTGACTAGTGAGGGGTGAGCCAGGATTCGATATG
TGACTAGTAAGGGGTCAGCCAAGATTTGATATGTGACTAGTGAGGGATGA
GACAGGATTTGATATGTGACTAGTGAGGGGCGAGCCAGGATTTGATATGT
GACTAGTGAGGGGCGAGCCAGGATTTGATATGTGACTAGTGAGGGGCGAG
CCAGGATTTGATATGTGACTGGTGAGGGGCGAGCCAGGATTTGATATGTG
ACTGGTGAGGGGCG
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 8794 chr17 510333
chr17:510333 T
T
 TCGCCCCT
others(325): Show 
TCGCCCCTCACCAGTCACATATCAAATCCTGGCTCGCCCCTCACTAGTCA
CATATCAAATCCTGGCTCGCCCCTCACTAGTCACATATCAAATCCTGTCT
CATCCCTCACTAGTCACATATCAAATCTTGGCTGACCCCTTACTAGTCAC
ATATCGAATCCTGGCTCACCCCTCACTAGTCACATATCAAATCCTGGCTT
GTCCCCTTGCTAGTCACGTATCAAATCCTGGCCGACCCCTTACTAGTCAC
ATATCGAATCCTGGCTCACCCCTCACTAGTCACATATCAAATCCTGGCTT
GTCCCCTTGCTAGTCACGTATCAAATCCTGGCC
 4 a0001c0001t0116
a0001c0001t0119
a0001c0002t0109
others(1): Show 
a0001c0001t0116
a0001c0001t0119
a0001c0002t0109
a0006c0012t0129
 4 HG00099.hp1
NA18945.hp2
NA18978.hp2
others(1): Show 
HG00099.hp1
NA18945.hp2
NA18978.hp2
NA18987.hp2
 3_prime_UTR_variant MODIFIER c.*8794_*8795insGGCC
others(328): Show 
c.*8794_*8795insGGCCAGGATTTGATACGTGACTAGCAAGGGGACA
AGCCAGGATTTGATATGTGACTAGTGAGGGGTGAGCCAGGATTCGATATG
TGACTAGTAAGGGGTCGGCCAGGATTTGATACGTGACTAGCAAGGGGACA
AGCCAGGATTTGATATGTGACTAGTGAGGGGTGAGCCAGGATTCGATATG
TGACTAGTAAGGGGTCAGCCAAGATTTGATATGTGACTAGTGAGGGATGA
GACAGGATTTGATATGTGACTAGTGAGGGGCGAGCCAGGATTTGATATGT
GACTAGTGAGGGGCGAGCCAGGATTTGATATGTGACTGGTGAGGGGCG
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 8794 chr17 510333
chr17:510333 T
T
 TCGCCCCT
others(292): Show 
TCGCCCCTCACCAGTCACATATCAAATCCTGGCTCGCCCCTCACTAGTCA
CATATCAAATCCTGTCTCATCCCTCACTAGTCACATATCAAATCTTGGCT
GACCCCTTACTAGTCACATATCGAATCCTGGCTCACCCCTCACTAGTCAC
ATATCAAATCCTGGCTTGTCCCCTTGCTAGTCACGTATCAAATCCTGGCC
GACCCCTTACTAGTCACATATCGAATCCTGGCTCACCCCTCACTAGTCAC
ATATCAAATCCTGGCTTGTCCCCTTGCTAGTCACGTATCAAATCCTGGCC
 1 a0001c0001t0107
a0001c0001t0107
 1 HG01255.hp2
HG01255.hp2
 3_prime_UTR_variant MODIFIER c.*8794_*8795insGGCC
others(295): Show 
c.*8794_*8795insGGCCAGGATTTGATACGTGACTAGCAAGGGGACA
AGCCAGGATTTGATATGTGACTAGTGAGGGGTGAGCCAGGATTCGATATG
TGACTAGTAAGGGGTCGGCCAGGATTTGATACGTGACTAGCAAGGGGACA
AGCCAGGATTTGATATGTGACTAGTGAGGGGTGAGCCAGGATTCGATATG
TGACTAGTAAGGGGTCAGCCAAGATTTGATATGTGACTAGTGAGGGATGA
GACAGGATTTGATATGTGACTAGTGAGGGGCGAGCCAGGATTTGATATGT
GACTGGTGAGGGGCG
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 8794 chr17 510333
chr17:510333 T
T
 TCGCCCCT
others(292): Show 
TCGCCCCTCACTAGTCACATATCAAATCCTGGCTCGCCCCTCACTAGTCA
CATATCAAATCCTGTCTCATCCCTCACTAGTCACATATCAAATCTTGGCT
GACCCCTTACTAGTCACATATCGAATCCTGGCTCACCCCTCACTAGTCAC
ATATCAAATCCTGGCTTGTCCCCTTGCTAGTCACGTATCAAATCCTGGCC
GACCCCTTACTAGTCACATATCGAATCCTGGCTCACCCCTCACTAGTCAC
ATATCAAATCCTGGCTTGTCCCCTTGCTAGTCACGTATCAAATCCTGGCC
 17 a0001c0001t0002
a0001c0001t0011
a0001c0001t0016
others(14): Show 
a0001c0001t0002
a0001c0001t0011
a0001c0001t0016
a0001c0001t0030
a0001c0001t0069
a0001c0001t0084
a0001c0001t0106
a0001c0001t0110
a0001c0001t0113
a0001c0001t0114
a0001c0001t0115
a0001c0001t0117
a0001c0001t0128
a0001c0007t0011
a0001c0007t0012
a0001c0007t0023
a0001c0007t0070
 32 HG00741.hp2
HG01081.hp2
HG01175.hp2
others(29): Show 
HG00741.hp2
HG01081.hp2
HG01175.hp2
HG01192.hp2
HG01361.hp2
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp2
HG01928.hp2
HG01978.hp2
HG02040.hp2
HG02056.hp2
HG02083.hp2
HG02109.hp2
HG02129.hp2
HG02132.hp2
HG02280.hp2
HG02300.hp2
HG02602.hp2
HG03492.hp2
HG03516.hp1
HG03688.hp2
NA18940.hp2
NA18967.hp2
NA18983.hp2
NA19009.hp2
NA19065.hp2
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19079.hp2
 3_prime_UTR_variant MODIFIER c.*8794_*8795insGGCC
others(295): Show 
c.*8794_*8795insGGCCAGGATTTGATACGTGACTAGCAAGGGGACA
AGCCAGGATTTGATATGTGACTAGTGAGGGGTGAGCCAGGATTCGATATG
TGACTAGTAAGGGGTCGGCCAGGATTTGATACGTGACTAGCAAGGGGACA
AGCCAGGATTTGATATGTGACTAGTGAGGGGTGAGCCAGGATTCGATATG
TGACTAGTAAGGGGTCAGCCAAGATTTGATATGTGACTAGTGAGGGATGA
GACAGGATTTGATATGTGACTAGTGAGGGGCGAGCCAGGATTTGATATGT
GACTAGTGAGGGGCG
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 8794 chr17 510333
chr17:510333 T
T
 TCGCCCCT
others(325): Show 
TCGCCCCTCACTAGTCACATATCAAATCCTGGCTCGCCCCTCACTAGTCA
CATATCAAATCCTGTCTCGCCCCTCACTAGTCACATATCAAATCCTGTCT
CATCCCTCACTAGTCACATATCAAATCTTGGCTGACCCCTTACTAGTCAC
ATATCGAATCCTGGCTCACCCCTCACTAGTCACATATCAAATCCTGGCTT
GTCCCCTTGCTAGTCACGTATCAAATCCTGGCCGACCCCTTACTAGTCAC
ATATCGAATCCTGGCTCACCCCTCACTAGTCACATATCAAATCCTGGCTT
GTCCCCTTGCTAGTCACGTATCAAATCCTGGCC
 1 a0001c0007t0062
a0001c0007t0062
 1 HG02293.hp2
HG02293.hp2
 3_prime_UTR_variant MODIFIER c.*8794_*8795insGGCC
others(328): Show 
c.*8794_*8795insGGCCAGGATTTGATACGTGACTAGCAAGGGGACA
AGCCAGGATTTGATATGTGACTAGTGAGGGGTGAGCCAGGATTCGATATG
TGACTAGTAAGGGGTCGGCCAGGATTTGATACGTGACTAGCAAGGGGACA
AGCCAGGATTTGATATGTGACTAGTGAGGGGTGAGCCAGGATTCGATATG
TGACTAGTAAGGGGTCAGCCAAGATTTGATATGTGACTAGTGAGGGATGA
GACAGGATTTGATATGTGACTAGTGAGGGGCGAGACAGGATTTGATATGT
GACTAGTGAGGGGCGAGCCAGGATTTGATATGTGACTAGTGAGGGGCG
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 8794 chr17 510333
chr17:510333 T
T
 TCGCCCCT
others(259): Show 
TCGCCCCTCACTAGTCACATATCAAATCCTGGCTCGCCCCTCACTAGTCA
CATATCAAATCTTGGCTGACCCCTTACTAGTCACATATCGAATCCTGGCT
CACCCCTCACTAGTCACATATCAAATCCTGGCTTGTCCCCTTGCTAGTCA
CGTATCAAATCCTGGCCGACCCCTTACTAGTCACATATCGAATCCTGGCT
CACCCCTCACTAGTCACATATCAAATCCTGGCTTGTCCCCTTGCTAGTCA
CGTATCAAATCCTGGCC
 5 a0001c0006t0021
a0001c0006t0039
a0001c0006t0053
others(2): Show 
a0001c0006t0021
a0001c0006t0039
a0001c0006t0053
a0001c0006t0057
a0002c0003t0099
 6 HG00099.hp2
HG00280.hp2
HG00438.hp2
others(3): Show 
HG00099.hp2
HG00280.hp2
HG00438.hp2
HG01515.hp2
HG03491.hp1
HG03492.hp1
 3_prime_UTR_variant MODIFIER c.*8794_*8795insGGCC
others(262): Show 
c.*8794_*8795insGGCCAGGATTTGATACGTGACTAGCAAGGGGACA
AGCCAGGATTTGATATGTGACTAGTGAGGGGTGAGCCAGGATTCGATATG
TGACTAGTAAGGGGTCGGCCAGGATTTGATACGTGACTAGCAAGGGGACA
AGCCAGGATTTGATATGTGACTAGTGAGGGGTGAGCCAGGATTCGATATG
TGACTAGTAAGGGGTCAGCCAAGATTTGATATGTGACTAGTGAGGGGCGA
GCCAGGATTTGATATGTGACTAGTGAGGGGCG
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 8794 chr17 510333
chr17:510333 T
T
 TCGCCCCT
others(259): Show 
TCGCCCCTCACTAGTCACATATCAAATCCTGTCTCATCCCTCACTAGTCA
CATATCAAATCTTGGCTGACCCCTTACTAGTCACATATCGAATCCTGGCT
CACCCCTCACTAGTCACATATCAAATCCTGGCTTGTCCCCTTGCTAGTCA
CGTATCAAATCCTGGCCGACCCCTTACTAGTCACATATCGAATCCTGGCT
CACCCCTCACTAGTCACATATCAAATCCTGGCTTGTCCCCTTGCTAGTCA
CGTATCAAATCCTGGCC
 1 a0001c0001t0120
a0001c0001t0120
 1 HG04184.hp2
HG04184.hp2
 3_prime_UTR_variant MODIFIER c.*8794_*8795insGGCC
others(262): Show 
c.*8794_*8795insGGCCAGGATTTGATACGTGACTAGCAAGGGGACA
AGCCAGGATTTGATATGTGACTAGTGAGGGGTGAGCCAGGATTCGATATG
TGACTAGTAAGGGGTCGGCCAGGATTTGATACGTGACTAGCAAGGGGACA
AGCCAGGATTTGATATGTGACTAGTGAGGGGTGAGCCAGGATTCGATATG
TGACTAGTAAGGGGTCAGCCAAGATTTGATATGTGACTAGTGAGGGATGA
GACAGGATTTGATATGTGACTAGTGAGGGGCG
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 8794 chr17 510333
chr17:510333 T
T
 TCGCCCCT
others(226): Show 
TCGCCCCTCACTAGTCACATATCAAATCTTGGCTGACCCCTTACTAGTCA
CATATCGAATCCTGGCTCGCCCCTCACTAGTCACATATCGAATCCTGGCT
TGTCCCCTTGCTAGTCACGTATCAAATCCTGGCCGACCCCTTACTAGTCA
CATATCGAATCCTGGCTCACCCCTCACTAGTCACATATCAAATCCTGGCT
TGTCCCCTTGCTAGTCACGTATCAAATCCTGGCC
 1 a0001c0006t0040
a0001c0006t0040
 1 HG01981.hp2
HG01981.hp2
 3_prime_UTR_variant MODIFIER c.*8794_*8795insGGCC
others(229): Show 
c.*8794_*8795insGGCCAGGATTTGATACGTGACTAGCAAGGGGACA
AGCCAGGATTTGATATGTGACTAGTGAGGGGTGAGCCAGGATTCGATATG
TGACTAGTAAGGGGTCGGCCAGGATTTGATACGTGACTAGCAAGGGGACA
AGCCAGGATTCGATATGTGACTAGTGAGGGGCGAGCCAGGATTCGATATG
TGACTAGTAAGGGGTCAGCCAAGATTTGATATGTGACTAGTGAGGGGCG
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 8794 chr17 510333
chr17:510349 A
A
 C
C
 48 a0001c0001t0015
a0001c0001t0028
a0001c0001t0029
others(45): Show 
a0001c0001t0015
a0001c0001t0028
a0001c0001t0029
a0001c0001t0033
a0001c0001t0087
a0001c0001t0088
a0001c0001t0094
a0001c0001t0095
a0001c0001t0096
a0001c0001t0097
a0001c0001t0098
a0001c0001t0105
a0001c0001t0111
a0001c0001t0112
a0001c0001t0127
a0001c0002t0005
a0001c0002t0007
a0001c0002t0022
a0001c0002t0048
a0001c0002t0049
a0001c0002t0050
a0001c0002t0055
a0001c0002t0058
a0001c0002t0078
a0001c0002t0086
a0001c0002t0100
a0001c0014t0135
a0002c0003t0008
a0002c0003t0009
a0002c0003t0027
a0002c0003t0085
a0002c0003t0090
a0002c0003t0091
a0002c0003t0092
a0002c0003t0093
a0002c0003t0104
a0002c0003t0150
a0003c0004t0004
a0003c0004t0005
a0003c0004t0006
a0003c0004t0022
a0003c0004t0054
a0003c0004t0056
a0003c0004t0059
a0003c0004t0060
a0003c0004t0061
a0003c0004t0063
a0004c0008t0103
 75 HG00423.hp2
HG01099.hp1
HG01109.hp2
others(72): Show 
HG00423.hp2
HG01099.hp1
HG01109.hp2
HG01167.hp1
HG01884.hp1
HG01891.hp1
HG01928.hp1
HG01981.hp1
HG02040.hp1
HG02056.hp1
HG02074.hp1
HG02083.hp1
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02280.hp1
HG02293.hp1
HG02300.hp1
HG02572.hp1
HG02622.hp1
HG02622.hp2
HG02723.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp2
HG02922.hp2
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03491.hp2
HG03516.hp2
HG03831.hp2
NA18612.hp1
NA18612.hp2
NA18906.hp2
NA18940.hp1
NA18944.hp2
NA18945.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18957.hp1
NA18959.hp1
NA18959.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18973.hp2
NA18977.hp1
NA18978.hp1
NA18979.hp1
NA18984.hp1
NA18986.hp2
NA18987.hp1
NA18990.hp1
NA19000.hp1
NA19007.hp1
NA19010.hp1
NA19011.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19065.hp1
NA19074.hp1
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19084.hp2
NA19087.hp2
NA19090.hp1
NA19091.hp2
NA20129.hp1
NA20300.hp2
 3_prime_UTR_variant MODIFIER c.*8779T>G
c.*8779T>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 8779 chr17 510349
chr17:510355 C
C
 G
G
 48 a0001c0001t0015
a0001c0001t0028
a0001c0001t0029
others(45): Show 
a0001c0001t0015
a0001c0001t0028
a0001c0001t0029
a0001c0001t0033
a0001c0001t0087
a0001c0001t0088
a0001c0001t0094
a0001c0001t0095
a0001c0001t0096
a0001c0001t0097
a0001c0001t0098
a0001c0001t0105
a0001c0001t0111
a0001c0001t0112
a0001c0001t0127
a0001c0002t0005
a0001c0002t0007
a0001c0002t0022
a0001c0002t0048
a0001c0002t0049
a0001c0002t0050
a0001c0002t0055
a0001c0002t0058
a0001c0002t0078
a0001c0002t0086
a0001c0002t0100
a0001c0014t0135
a0002c0003t0008
a0002c0003t0009
a0002c0003t0027
a0002c0003t0085
a0002c0003t0090
a0002c0003t0091
a0002c0003t0092
a0002c0003t0093
a0002c0003t0104
a0002c0003t0150
a0003c0004t0004
a0003c0004t0005
a0003c0004t0006
a0003c0004t0022
a0003c0004t0054
a0003c0004t0056
a0003c0004t0059
a0003c0004t0060
a0003c0004t0061
a0003c0004t0063
a0004c0008t0103
 75 HG00423.hp2
HG01099.hp1
HG01109.hp2
others(72): Show 
HG00423.hp2
HG01099.hp1
HG01109.hp2
HG01167.hp1
HG01884.hp1
HG01891.hp1
HG01928.hp1
HG01981.hp1
HG02040.hp1
HG02056.hp1
HG02074.hp1
HG02083.hp1
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02280.hp1
HG02293.hp1
HG02300.hp1
HG02572.hp1
HG02622.hp1
HG02622.hp2
HG02723.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp2
HG02922.hp2
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03491.hp2
HG03516.hp2
HG03831.hp2
NA18612.hp1
NA18612.hp2
NA18906.hp2
NA18940.hp1
NA18944.hp2
NA18945.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18957.hp1
NA18959.hp1
NA18959.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18973.hp2
NA18977.hp1
NA18978.hp1
NA18979.hp1
NA18984.hp1
NA18986.hp2
NA18987.hp1
NA18990.hp1
NA19000.hp1
NA19007.hp1
NA19010.hp1
NA19011.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19065.hp1
NA19074.hp1
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19084.hp2
NA19087.hp2
NA19090.hp1
NA19091.hp2
NA20129.hp1
NA20300.hp2
 3_prime_UTR_variant MODIFIER c.*8773G>C
c.*8773G>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 8773 chr17 510355
chr17:510356 G
G
 A
A
 48 a0001c0001t0015
a0001c0001t0028
a0001c0001t0029
others(45): Show 
a0001c0001t0015
a0001c0001t0028
a0001c0001t0029
a0001c0001t0033
a0001c0001t0087
a0001c0001t0088
a0001c0001t0094
a0001c0001t0095
a0001c0001t0096
a0001c0001t0097
a0001c0001t0098
a0001c0001t0105
a0001c0001t0111
a0001c0001t0112
a0001c0001t0127
a0001c0002t0005
a0001c0002t0007
a0001c0002t0022
a0001c0002t0048
a0001c0002t0049
a0001c0002t0050
a0001c0002t0055
a0001c0002t0058
a0001c0002t0078
a0001c0002t0086
a0001c0002t0100
a0001c0014t0135
a0002c0003t0008
a0002c0003t0009
a0002c0003t0027
a0002c0003t0085
a0002c0003t0090
a0002c0003t0091
a0002c0003t0092
a0002c0003t0093
a0002c0003t0104
a0002c0003t0150
a0003c0004t0004
a0003c0004t0005
a0003c0004t0006
a0003c0004t0022
a0003c0004t0054
a0003c0004t0056
a0003c0004t0059
a0003c0004t0060
a0003c0004t0061
a0003c0004t0063
a0004c0008t0103
 75 HG00423.hp2
HG01099.hp1
HG01109.hp2
others(72): Show 
HG00423.hp2
HG01099.hp1
HG01109.hp2
HG01167.hp1
HG01884.hp1
HG01891.hp1
HG01928.hp1
HG01981.hp1
HG02040.hp1
HG02056.hp1
HG02074.hp1
HG02083.hp1
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02280.hp1
HG02293.hp1
HG02300.hp1
HG02572.hp1
HG02622.hp1
HG02622.hp2
HG02723.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp2
HG02922.hp2
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03491.hp2
HG03516.hp2
HG03831.hp2
NA18612.hp1
NA18612.hp2
NA18906.hp2
NA18940.hp1
NA18944.hp2
NA18945.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18957.hp1
NA18959.hp1
NA18959.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18973.hp2
NA18977.hp1
NA18978.hp1
NA18979.hp1
NA18984.hp1
NA18986.hp2
NA18987.hp1
NA18990.hp1
NA19000.hp1
NA19007.hp1
NA19010.hp1
NA19011.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19065.hp1
NA19074.hp1
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19084.hp2
NA19087.hp2
NA19090.hp1
NA19091.hp2
NA20129.hp1
NA20300.hp2
 3_prime_UTR_variant MODIFIER c.*8772C>T
c.*8772C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 8772 chr17 510356
chr17:510368 G
G
 A
A
 116 a0001c0001t0002
a0001c0001t0011
a0001c0001t0015
others(113): Show 
a0001c0001t0002
a0001c0001t0011
a0001c0001t0015
a0001c0001t0016
a0001c0001t0028
a0001c0001t0029
a0001c0001t0030
a0001c0001t0032
a0001c0001t0033
a0001c0001t0034
a0001c0001t0069
a0001c0001t0084
a0001c0001t0087
a0001c0001t0088
a0001c0001t0094
a0001c0001t0095
a0001c0001t0096
a0001c0001t0097
a0001c0001t0098
a0001c0001t0101
a0001c0001t0102
a0001c0001t0105
a0001c0001t0106
a0001c0001t0107
a0001c0001t0108
a0001c0001t0110
a0001c0001t0111
a0001c0001t0112
a0001c0001t0113
a0001c0001t0114
a0001c0001t0115
a0001c0001t0116
a0001c0001t0117
a0001c0001t0118
a0001c0001t0119
a0001c0001t0120
a0001c0001t0121
a0001c0001t0122
a0001c0001t0127
a0001c0001t0128
a0001c0001t0138
a0001c0001t0141
a0001c0002t0005
a0001c0002t0007
a0001c0002t0010
a0001c0002t0022
a0001c0002t0043
a0001c0002t0048
a0001c0002t0050
a0001c0002t0055
a0001c0002t0058
a0001c0002t0086
a0001c0002t0100
a0001c0002t0109
a0001c0005t0010
a0001c0005t0019
a0001c0005t0020
a0001c0005t0042
a0001c0005t0044
a0001c0005t0045
a0001c0005t0046
a0001c0006t0021
a0001c0006t0039
a0001c0006t0040
a0001c0006t0041
a0001c0006t0053
a0001c0006t0057
a0001c0007t0011
a0001c0007t0012
a0001c0007t0023
a0001c0007t0062
a0001c0007t0070
a0001c0011t0051
a0001c0015t0126
a0001c0016t0052
a0002c0003t0008
a0002c0003t0009
a0002c0003t0018
a0002c0003t0027
a0002c0003t0036
a0002c0003t0037
a0002c0003t0085
a0002c0003t0089
a0002c0003t0090
a0002c0003t0091
a0002c0003t0092
a0002c0003t0093
a0002c0003t0099
a0002c0003t0104
a0002c0003t0131
a0002c0003t0136
a0002c0003t0139
a0002c0003t0140
a0002c0003t0144
a0002c0003t0145
a0002c0003t0146
a0002c0003t0148
a0002c0003t0150
a0003c0004t0004
a0003c0004t0005
a0003c0004t0006
a0003c0004t0022
a0003c0004t0047
a0003c0004t0054
a0003c0004t0056
a0003c0004t0059
a0003c0004t0060
a0003c0004t0061
a0003c0004t0063
a0004c0008t0036
a0004c0008t0103
a0005c0009t0130
a0005c0009t0137
a0005c0009t0147
a0006c0012t0129
a0007c0013t0132
 167 HG00099.hp1
HG00099.hp2
HG00280.hp2
others(164): Show 
HG00099.hp1
HG00099.hp2
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp2
HG00621.hp1
HG00741.hp2
HG01070.hp2
HG01071.hp1
HG01074.hp2
HG01081.hp2
HG01099.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01346.hp2
HG01361.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01928.hp1
HG01928.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02056.hp1
HG02056.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18955.hp1
NA18957.hp1
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18967.hp2
NA18973.hp2
NA18977.hp1
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18990.hp1
NA18994.hp1
NA18994.hp2
NA19000.hp1
NA19000.hp2
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19065.hp1
NA19065.hp2
NA19066.hp2
NA19068.hp2
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19087.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA20129.hp1
NA20300.hp2
 3_prime_UTR_variant MODIFIER c.*8760C>T
c.*8760C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 8760 chr17 510368
chr17:510423 A
A
 AAATCCTG
others(60): Show 
AAATCCTGGCCCGACCCCTTACTAGTCCCATATGAAATCCTGGCTCACCC
CTCACTAGTCACATATCG
 1 a0001c0002t0043
a0001c0002t0043
 1 NA18944.hp1
NA18944.hp1
 3_prime_UTR_variant MODIFIER c.*8704_*8705insCGAT
others(63): Show 
c.*8704_*8705insCGATATGTGACTAGTGAGGGGTGAGCCAGGATTT
CATATGGGACTAGTAAGGGGTCGGGCCAGGATT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 8704 chr17 510423
chr17:510423 A
A
 AAATCCTG
others(59): Show 
AAATCCTGGCCGACCCCTTACTAGTCCCATATGAAATCCTGGCTCACCCC
TCACTAGTCACATATCG
 10 a0001c0002t0010
a0001c0005t0010
a0001c0005t0019
others(7): Show 
a0001c0002t0010
a0001c0005t0010
a0001c0005t0019
a0001c0005t0020
a0001c0005t0042
a0001c0005t0044
a0001c0005t0045
a0001c0005t0046
a0002c0003t0089
a0003c0004t0047
 13 HG02074.hp2
HG02135.hp2
HG02602.hp1
others(10): Show 
HG02074.hp2
HG02135.hp2
HG02602.hp1
NA18747.hp1
NA18960.hp2
NA18994.hp1
NA18994.hp2
NA19000.hp2
NA19009.hp1
NA19010.hp2
NA19084.hp1
NA19087.hp1
NA19091.hp1
 3_prime_UTR_variant MODIFIER c.*8704_*8705insCGAT
others(62): Show 
c.*8704_*8705insCGATATGTGACTAGTGAGGGGTGAGCCAGGATTT
CATATGGGACTAGTAAGGGGTCGGCCAGGATT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 8704 chr17 510423
chr17:510447 T
T
 TCCCATAT
others(93): Show 
TCCCATATGAAATCCTGGCTCACCCCTCACTAGTCACATATCAAATCCTG
GCTTGTCCCCTTGCTAGTCACGTATCAAATCCTGGCCGACCCCTTACTAG
A
 2 a0001c0001t0101
a0001c0001t0102
a0001c0001t0101
a0001c0001t0102
 2 HG02572.hp2
HG03139.hp1
HG02572.hp2
HG03139.hp1
 3_prime_UTR_variant MODIFIER c.*8680_*8681insTCTA
others(96): Show 
c.*8680_*8681insTCTAGTAAGGGGTCGGCCAGGATTTGATACGTGA
CTAGCAAGGGGACAAGCCAGGATTTGATATGTGACTAGTGAGGGGTGAGC
CAGGATTTCATATGGG
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 8680 chr17 510447
chr17:510449 C
C
 A
A
 1 a0001c0001t0121
a0001c0001t0121
 1 HG04199.hp2
HG04199.hp2
 3_prime_UTR_variant MODIFIER c.*8679G>T
c.*8679G>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 8679 chr17 510449
chr17:510451 A
A
 ATATCGAA
others(460): Show 
ATATCGAATCCTGGCTCACCCCTCACTAGTCACATATCAAATCCTGGCTT
GTCCCCTTGCTAGTCACGTATCAAATCCTGGCCGACCCCTTACTAGTCAC
ATATCGAATCCTGGCTCACCCCTCACTAGTCACATATCAAATCCTGGCTT
GTCCCCTTGCTAGTCACGTATCAAATCCTGGCCGACCCCTTACTAGTCCC
ATATGAAATCCTGGCTCACCCCTCACTAGTCACATATCAAATCCTGGCTT
GTCCCCTTGCTAGTCACGTATCAAATCCTGGCCGACCCCTTACTAGTCCC
ATATGAAATCCTGGCTCACCCCTCACTAGTCACATATCAAATCCTGGCTT
GTCCCCTTGCTAGTCACGTATCAAATCCTGGCCGACCCCTTACTAGTCCC
ATATGAAATCCTGGCTCACCCCTCACTAGTCACATATCAAATCCTGGCTT
GTCCCCTTGCTAGTCACG
 1 a0001c0001t0121
a0001c0001t0121
 1 HG04199.hp2
HG04199.hp2
 3_prime_UTR_variant MODIFIER c.*8676_*8677insCGTG
others(463): Show 
c.*8676_*8677insCGTGACTAGCAAGGGGACAAGCCAGGATTTGATA
TGTGACTAGTGAGGGGTGAGCCAGGATTTCATATGGGACTAGTAAGGGGT
CGGCCAGGATTTGATACGTGACTAGCAAGGGGACAAGCCAGGATTTGATA
TGTGACTAGTGAGGGGTGAGCCAGGATTTCATATGGGACTAGTAAGGGGT
CGGCCAGGATTTGATACGTGACTAGCAAGGGGACAAGCCAGGATTTGATA
TGTGACTAGTGAGGGGTGAGCCAGGATTTCATATGGGACTAGTAAGGGGT
CGGCCAGGATTTGATACGTGACTAGCAAGGGGACAAGCCAGGATTTGATA
TGTGACTAGTGAGGGGTGAGCCAGGATTCGATATGTGACTAGTAAGGGGT
CGGCCAGGATTTGATACGTGACTAGCAAGGGGACAAGCCAGGATTTGATA
TGTGACTAGTGAGGGGTGAGCCAGGATTCGATA
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 8676 chr17 510451
chr17:510455 G
G
 C
C
 1 a0001c0001t0121
a0001c0001t0121
 1 HG04199.hp2
HG04199.hp2
 3_prime_UTR_variant MODIFIER c.*8673C>G
c.*8673C>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 8673 chr17 510455
chr17:510466 T
T
 C
C
 1 a0001c0001t0121
a0001c0001t0121
 1 HG04199.hp2
HG04199.hp2
 3_prime_UTR_variant MODIFIER c.*8662A>G
c.*8662A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 8662 chr17 510466
chr17:510466 T
T
 TCACCCCT
others(160): Show 
TCACCCCTCACTAGTCACATATCAAATCCTGGCTTGTCCCCTTGCTAGTC
ACGTATCAAATCCTGGCCGACCCCTTACTAGTCCCATATGAAATCCTGGC
TCACCCCTCACTAGTCACATATCAAATCCTGGCTTGTCCCCTTGCTAGTC
ACGTATCAAATCCTGGCC
 1 a0001c0006t0039
a0001c0006t0039
 1 HG01515.hp2
HG01515.hp2
 3_prime_UTR_variant MODIFIER c.*8661_*8662insGGCC
others(163): Show 
c.*8661_*8662insGGCCAGGATTTGATACGTGACTAGCAAGGGGACA
AGCCAGGATTTGATATGTGACTAGTGAGGGGTGAGCCAGGATTTCATATG
GGACTAGTAAGGGGTCGGCCAGGATTTGATACGTGACTAGCAAGGGGACA
AGCCAGGATTTGATATGTGACTAGTGAGGGGTG
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 8661 chr17 510466
chr17:510466 T
T
 TCACCCCT
others(260): Show 
TCACCCCTCACTAGTCACATATCAAATCCTGGCTTGTCCCCTTGCTAGTC
ACGTATCAAATCCTGGCCGACCCCTTACTAGTCCCATATGAAATCCTGGC
TCACCCCTCACTAGTCACATATCAAATCCTGGCTTGTCCCCTTGCTAGTC
ACGTATCAAATCCTGGCCGACCCCTTACTAGTCCCATATGAAATCCTGGC
TCACCCCTCACTAGTCACATATCAAATCCTGGCTTGTCCCCTTGCTAGTC
ACGTATCAAATCCTGGCC
 52 a0001c0001t0002
a0001c0001t0011
a0001c0001t0016
others(49): Show 
a0001c0001t0002
a0001c0001t0011
a0001c0001t0016
a0001c0001t0030
a0001c0001t0032
a0001c0001t0034
a0001c0001t0069
a0001c0001t0084
a0001c0001t0106
a0001c0001t0107
a0001c0001t0110
a0001c0001t0113
a0001c0001t0114
a0001c0001t0115
a0001c0001t0116
a0001c0001t0117
a0001c0001t0119
a0001c0001t0120
a0001c0001t0122
a0001c0001t0128
a0001c0001t0138
a0001c0001t0141
a0001c0002t0109
a0001c0006t0021
a0001c0006t0040
a0001c0006t0041
a0001c0006t0053
a0001c0006t0057
a0001c0007t0011
a0001c0007t0012
a0001c0007t0023
a0001c0007t0062
a0001c0007t0070
a0001c0015t0126
a0002c0003t0018
a0002c0003t0036
a0002c0003t0037
a0002c0003t0099
a0002c0003t0131
a0002c0003t0136
a0002c0003t0139
a0002c0003t0140
a0002c0003t0144
a0002c0003t0145
a0002c0003t0146
a0002c0003t0148
a0004c0008t0036
a0005c0009t0130
a0005c0009t0137
a0005c0009t0147
a0006c0012t0129
a0007c0013t0132
 73 HG00099.hp1
HG00099.hp2
HG00280.hp2
others(70): Show 
HG00099.hp1
HG00099.hp2
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00438.hp2
HG00621.hp1
HG00741.hp2
HG01070.hp2
HG01071.hp1
HG01081.hp2
HG01106.hp2
HG01109.hp1
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01361.hp2
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp2
HG01928.hp2
HG01978.hp2
HG01981.hp2
HG02040.hp2
HG02056.hp2
HG02083.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02602.hp2
HG02723.hp1
HG02738.hp2
HG02895.hp1
HG02922.hp1
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03688.hp2
HG03831.hp1
HG03942.hp1
HG04184.hp2
HG04199.hp1
HG04204.hp1
NA18940.hp2
NA18945.hp2
NA18946.hp1
NA18955.hp1
NA18967.hp2
NA18978.hp2
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18986.hp1
NA18987.hp2
NA19009.hp2
NA19065.hp2
NA19066.hp2
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19079.hp2
NA19090.hp2
 3_prime_UTR_variant MODIFIER c.*8661_*8662insGGCC
others(263): Show 
c.*8661_*8662insGGCCAGGATTTGATACGTGACTAGCAAGGGGACA
AGCCAGGATTTGATATGTGACTAGTGAGGGGTGAGCCAGGATTTCATATG
GGACTAGTAAGGGGTCGGCCAGGATTTGATACGTGACTAGCAAGGGGACA
AGCCAGGATTTGATATGTGACTAGTGAGGGGTGAGCCAGGATTTCATATG
GGACTAGTAAGGGGTCGGCCAGGATTTGATACGTGACTAGCAAGGGGACA
AGCCAGGATTTGATATGTGACTAGTGAGGGGTG
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 8661 chr17 510466
chr17:510474 T
T
 C
C
 13 a0001c0002t0010
a0001c0002t0043
a0001c0005t0010
others(10): Show 
a0001c0002t0010
a0001c0002t0043
a0001c0005t0010
a0001c0005t0019
a0001c0005t0020
a0001c0005t0042
a0001c0005t0044
a0001c0005t0045
a0001c0005t0046
a0001c0011t0051
a0001c0016t0052
a0002c0003t0089
a0003c0004t0047
 16 HG01074.hp2
HG01168.hp2
HG02074.hp2
others(13): Show 
HG01074.hp2
HG01168.hp2
HG02074.hp2
HG02135.hp2
HG02602.hp1
NA18747.hp1
NA18944.hp1
NA18960.hp2
NA18994.hp1
NA18994.hp2
NA19000.hp2
NA19009.hp1
NA19010.hp2
NA19084.hp1
NA19087.hp1
NA19091.hp1
 3_prime_UTR_variant MODIFIER c.*8654A>G
c.*8654A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 8654 chr17 510474
chr17:510488 T
T
 C
C
 104 a0001c0001t0002
a0001c0001t0011
a0001c0001t0015
others(101): Show 
a0001c0001t0002
a0001c0001t0011
a0001c0001t0015
a0001c0001t0016
a0001c0001t0028
a0001c0001t0029
a0001c0001t0030
a0001c0001t0032
a0001c0001t0033
a0001c0001t0034
a0001c0001t0069
a0001c0001t0084
a0001c0001t0087
a0001c0001t0088
a0001c0001t0094
a0001c0001t0095
a0001c0001t0096
a0001c0001t0097
a0001c0001t0098
a0001c0001t0105
a0001c0001t0106
a0001c0001t0107
a0001c0001t0108
a0001c0001t0110
a0001c0001t0111
a0001c0001t0112
a0001c0001t0113
a0001c0001t0114
a0001c0001t0115
a0001c0001t0116
a0001c0001t0117
a0001c0001t0118
a0001c0001t0119
a0001c0001t0120
a0001c0001t0121
a0001c0001t0122
a0001c0001t0127
a0001c0001t0128
a0001c0001t0138
a0001c0001t0141
a0001c0002t0005
a0001c0002t0007
a0001c0002t0010
a0001c0002t0043
a0001c0002t0048
a0001c0002t0049
a0001c0002t0050
a0001c0002t0058
a0001c0002t0078
a0001c0002t0086
a0001c0002t0109
a0001c0005t0010
a0001c0005t0019
a0001c0005t0020
a0001c0005t0042
a0001c0005t0044
a0001c0005t0045
a0001c0005t0046
a0001c0006t0021
a0001c0006t0039
a0001c0006t0040
a0001c0006t0041
a0001c0006t0053
a0001c0006t0057
a0001c0007t0011
a0001c0007t0012
a0001c0007t0023
a0001c0007t0062
a0001c0007t0070
a0001c0011t0051
a0001c0014t0135
a0001c0015t0126
a0001c0016t0052
a0002c0003t0008
a0002c0003t0009
a0002c0003t0018
a0002c0003t0027
a0002c0003t0036
a0002c0003t0037
a0002c0003t0085
a0002c0003t0089
a0002c0003t0090
a0002c0003t0091
a0002c0003t0092
a0002c0003t0093
a0002c0003t0099
a0002c0003t0104
a0002c0003t0131
a0002c0003t0136
a0002c0003t0139
a0002c0003t0140
a0002c0003t0144
a0002c0003t0145
a0002c0003t0146
a0002c0003t0148
a0002c0003t0150
a0003c0004t0005
a0003c0004t0047
a0004c0008t0036
a0005c0009t0130
a0005c0009t0137
a0005c0009t0147
a0006c0012t0129
a0007c0013t0132
 146 HG00099.hp1
HG00099.hp2
HG00280.hp2
others(143): Show 
HG00099.hp1
HG00099.hp2
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp2
HG00621.hp1
HG00741.hp2
HG01070.hp2
HG01071.hp1
HG01074.hp2
HG01081.hp2
HG01099.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01346.hp2
HG01361.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01928.hp1
HG01928.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02056.hp1
HG02056.hp2
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02572.hp1
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03688.hp2
HG03831.hp1
HG03942.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
NA18612.hp1
NA18747.hp1
NA18940.hp2
NA18944.hp1
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18948.hp2
NA18950.hp1
NA18955.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp1
NA18962.hp2
NA18967.hp2
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18986.hp1
NA18987.hp1
NA18987.hp2
NA18994.hp1
NA18994.hp2
NA19000.hp1
NA19000.hp2
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19060.hp1
NA19060.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp2
NA19068.hp2
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp2
NA19080.hp2
NA19081.hp1
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA20129.hp1
NA20300.hp2
 3_prime_UTR_variant MODIFIER c.*8640A>G
c.*8640A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 8640 chr17 510488
chr17:510488 T
T
 G
G
 15 a0001c0001t0101
a0001c0001t0102
a0001c0002t0022
others(12): Show 
a0001c0001t0101
a0001c0001t0102
a0001c0002t0022
a0001c0002t0055
a0001c0002t0100
a0003c0004t0004
a0003c0004t0006
a0003c0004t0022
a0003c0004t0054
a0003c0004t0056
a0003c0004t0059
a0003c0004t0060
a0003c0004t0061
a0003c0004t0063
a0004c0008t0103
 24 HG02074.hp1
HG02572.hp2
HG03139.hp1
others(21): Show 
HG02074.hp1
HG02572.hp2
HG03139.hp1
HG03831.hp2
NA18612.hp2
NA18906.hp2
NA18940.hp1
NA18944.hp2
NA18950.hp2
NA18957.hp1
NA18959.hp1
NA18961.hp2
NA18962.hp1
NA18973.hp2
NA18977.hp1
NA18978.hp1
NA18984.hp1
NA18986.hp2
NA18990.hp1
NA19011.hp2
NA19064.hp1
NA19080.hp1
NA19087.hp2
NA19091.hp2
 3_prime_UTR_variant MODIFIER c.*8640A>C
c.*8640A>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 8640 chr17 510488
chr17:510489 G
G
 A
A
 15 a0001c0001t0101
a0001c0001t0102
a0001c0002t0022
others(12): Show 
a0001c0001t0101
a0001c0001t0102
a0001c0002t0022
a0001c0002t0055
a0001c0002t0100
a0003c0004t0004
a0003c0004t0006
a0003c0004t0022
a0003c0004t0054
a0003c0004t0056
a0003c0004t0059
a0003c0004t0060
a0003c0004t0061
a0003c0004t0063
a0004c0008t0103
 24 HG02074.hp1
HG02572.hp2
HG03139.hp1
others(21): Show 
HG02074.hp1
HG02572.hp2
HG03139.hp1
HG03831.hp2
NA18612.hp2
NA18906.hp2
NA18940.hp1
NA18944.hp2
NA18950.hp2
NA18957.hp1
NA18959.hp1
NA18961.hp2
NA18962.hp1
NA18973.hp2
NA18977.hp1
NA18978.hp1
NA18984.hp1
NA18986.hp2
NA18990.hp1
NA19011.hp2
NA19064.hp1
NA19080.hp1
NA19087.hp2
NA19091.hp2
 3_prime_UTR_variant MODIFIER c.*8639C>T
c.*8639C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 8639 chr17 510489
chr17:510518 C
C
 T
T
 2 a0001c0001t0108
a0001c0001t0118
a0001c0001t0108
a0001c0001t0118
 2 HG01192.hp1
HG01346.hp2
HG01192.hp1
HG01346.hp2
 3_prime_UTR_variant MODIFIER c.*8610G>A
c.*8610G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 8610 chr17 510518
chr17:510594 C
C
 T
T
 3 a0001c0002t0078
a0001c0002t0109
a0001c0014t0135
a0001c0002t0078
a0001c0002t0109
a0001c0014t0135
 3 HG00099.hp1
HG02572.hp1
HG03516.hp2
HG00099.hp1
HG02572.hp1
HG03516.hp2
 3_prime_UTR_variant MODIFIER c.*8534G>A
c.*8534G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 8534 chr17 510594
chr17:510699 T
T
 G
G
 1 a0001c0002t0076
a0001c0002t0076
 1 NA18973.hp1
NA18973.hp1
 3_prime_UTR_variant MODIFIER c.*8429A>C
c.*8429A>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 8429 chr17 510699
chr17:510757 C
C
 T
T
 1 a0002c0003t0093
a0002c0003t0093
 1 HG01167.hp1
HG01167.hp1
 3_prime_UTR_variant MODIFIER c.*8371G>A
c.*8371G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 8371 chr17 510757
chr17:510763 A
A
 G
G
 159 a0001c0001t0002
a0001c0001t0011
a0001c0001t0015
others(156): Show 
a0001c0001t0002
a0001c0001t0011
a0001c0001t0015
a0001c0001t0016
a0001c0001t0017
a0001c0001t0028
a0001c0001t0029
a0001c0001t0030
a0001c0001t0031
a0001c0001t0032
a0001c0001t0033
a0001c0001t0034
a0001c0001t0069
a0001c0001t0084
a0001c0001t0087
a0001c0001t0088
a0001c0001t0094
a0001c0001t0095
a0001c0001t0096
a0001c0001t0097
a0001c0001t0098
a0001c0001t0101
a0001c0001t0102
a0001c0001t0105
a0001c0001t0106
a0001c0001t0107
a0001c0001t0108
a0001c0001t0110
a0001c0001t0111
a0001c0001t0112
a0001c0001t0113
a0001c0001t0114
a0001c0001t0115
a0001c0001t0116
a0001c0001t0117
a0001c0001t0118
a0001c0001t0119
a0001c0001t0120
a0001c0001t0121
a0001c0001t0122
a0001c0001t0123
a0001c0001t0127
a0001c0001t0128
a0001c0001t0134
a0001c0001t0138
a0001c0001t0141
a0001c0002t0001
a0001c0002t0003
a0001c0002t0005
a0001c0002t0007
a0001c0002t0010
a0001c0002t0014
a0001c0002t0017
a0001c0002t0022
a0001c0002t0025
a0001c0002t0026
a0001c0002t0035
a0001c0002t0038
a0001c0002t0043
a0001c0002t0048
a0001c0002t0049
a0001c0002t0050
a0001c0002t0055
a0001c0002t0058
a0001c0002t0065
a0001c0002t0066
a0001c0002t0067
a0001c0002t0072
a0001c0002t0075
a0001c0002t0076
a0001c0002t0077
a0001c0002t0078
a0001c0002t0082
a0001c0002t0083
a0001c0002t0086
a0001c0002t0100
a0001c0002t0109
a0001c0002t0125
a0001c0002t0143
a0001c0002t0149
a0001c0005t0010
a0001c0005t0019
a0001c0005t0020
a0001c0005t0042
a0001c0005t0044
a0001c0005t0045
a0001c0005t0046
a0001c0005t0080
a0001c0006t0001
a0001c0006t0021
a0001c0006t0039
a0001c0006t0040
a0001c0006t0041
a0001c0006t0053
a0001c0006t0057
a0001c0006t0068
a0001c0006t0074
a0001c0007t0011
a0001c0007t0012
a0001c0007t0023
a0001c0007t0062
a0001c0007t0070
a0001c0011t0051
a0001c0014t0135
a0001c0015t0126
a0001c0016t0052
a0002c0003t0008
a0002c0003t0009
a0002c0003t0017
a0002c0003t0018
a0002c0003t0027
a0002c0003t0036
a0002c0003t0037
a0002c0003t0073
a0002c0003t0085
a0002c0003t0089
a0002c0003t0090
a0002c0003t0091
a0002c0003t0092
a0002c0003t0093
a0002c0003t0099
a0002c0003t0104
a0002c0003t0131
a0002c0003t0136
a0002c0003t0139
a0002c0003t0140
a0002c0003t0144
a0002c0003t0145
a0002c0003t0146
a0002c0003t0148
a0002c0003t0150
a0002c0010t0038
a0003c0004t0003
a0003c0004t0004
a0003c0004t0005
a0003c0004t0006
a0003c0004t0022
a0003c0004t0025
a0003c0004t0047
a0003c0004t0054
a0003c0004t0056
a0003c0004t0059
a0003c0004t0060
a0003c0004t0061
a0003c0004t0063
a0003c0004t0064
a0003c0004t0071
a0003c0004t0081
a0004c0008t0035
a0004c0008t0036
a0004c0008t0103
a0004c0008t0124
a0004c0008t0133
a0004c0008t0142
a0005c0009t0130
a0005c0009t0137
a0005c0009t0147
a0006c0012t0129
a0007c0013t0132
 226 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(223): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00621.hp1
HG00621.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02056.hp1
HG02056.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18955.hp1
NA18955.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18967.hp1
NA18967.hp2
NA18973.hp1
NA18973.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18990.hp1
NA18990.hp2
NA18994.hp1
NA18994.hp2
NA19000.hp1
NA19000.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19087.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 3_prime_UTR_variant MODIFIER c.*8365T>C
c.*8365T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 8365 chr17 510763
chr17:510785 G
G
 T
T
 5 a0001c0001t0117
a0001c0007t0012
a0001c0007t0023
others(2): Show 
a0001c0001t0117
a0001c0007t0012
a0001c0007t0023
a0001c0007t0062
a0001c0007t0070
 8 HG01081.hp2
HG01175.hp2
HG01192.hp2
others(5): Show 
HG01081.hp2
HG01175.hp2
HG01192.hp2
HG01496.hp2
HG01928.hp2
HG01978.hp2
HG02293.hp2
HG02300.hp2
 3_prime_UTR_variant MODIFIER c.*8343C>A
c.*8343C>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 8343 chr17 510785
chr17:510840 C
C
 T
T
 1 a0003c0004t0081
a0003c0004t0081
 1 NA21309.hp2
NA21309.hp2
 3_prime_UTR_variant MODIFIER c.*8288G>A
c.*8288G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 8288 chr17 510840
chr17:510987 G
G
 A
A
 8 a0001c0001t0029
a0001c0001t0033
a0001c0001t0087
others(5): Show 
a0001c0001t0029
a0001c0001t0033
a0001c0001t0087
a0001c0001t0088
a0001c0001t0097
a0001c0001t0111
a0001c0001t0112
a0001c0001t0127
 10 HG01884.hp1
HG01891.hp1
HG02622.hp2
others(7): Show 
HG01884.hp1
HG01891.hp1
HG02622.hp2
HG02818.hp1
HG02886.hp2
HG02895.hp2
HG02922.hp2
HG03139.hp2
HG03225.hp1
NA20129.hp1
 3_prime_UTR_variant MODIFIER c.*8141C>T
c.*8141C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 8141 chr17 510987
chr17:511225 C
C
 T
T
 1 a0001c0001t0107
a0001c0001t0107
 1 HG01255.hp2
HG01255.hp2
 3_prime_UTR_variant MODIFIER c.*7903G>A
c.*7903G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 7903 chr17 511225
chr17:511300 C
C
 A
A
 35 a0001c0001t0015
a0001c0001t0028
a0001c0001t0029
others(32): Show 
a0001c0001t0015
a0001c0001t0028
a0001c0001t0029
a0001c0001t0033
a0001c0001t0087
a0001c0001t0088
a0001c0001t0094
a0001c0001t0095
a0001c0001t0096
a0001c0001t0097
a0001c0001t0098
a0001c0001t0105
a0001c0001t0111
a0001c0001t0112
a0001c0001t0127
a0001c0002t0005
a0001c0002t0007
a0001c0002t0048
a0001c0002t0049
a0001c0002t0050
a0001c0002t0058
a0001c0002t0078
a0001c0002t0086
a0001c0014t0135
a0002c0003t0008
a0002c0003t0009
a0002c0003t0027
a0002c0003t0085
a0002c0003t0090
a0002c0003t0091
a0002c0003t0092
a0002c0003t0093
a0002c0003t0104
a0002c0003t0150
a0003c0004t0005
 53 HG00423.hp2
HG01099.hp1
HG01109.hp2
others(50): Show 
HG00423.hp2
HG01099.hp1
HG01109.hp2
HG01167.hp1
HG01884.hp1
HG01891.hp1
HG01928.hp1
HG01981.hp1
HG02040.hp1
HG02056.hp1
HG02083.hp1
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02280.hp1
HG02293.hp1
HG02300.hp1
HG02572.hp1
HG02622.hp1
HG02622.hp2
HG02723.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp2
HG02922.hp2
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03491.hp2
HG03516.hp2
NA18612.hp1
NA18945.hp1
NA18948.hp2
NA18950.hp1
NA18959.hp2
NA18961.hp1
NA18962.hp2
NA18979.hp1
NA18987.hp1
NA19000.hp1
NA19007.hp1
NA19010.hp1
NA19060.hp1
NA19060.hp2
NA19065.hp1
NA19074.hp1
NA19080.hp2
NA19081.hp1
NA19084.hp2
NA19090.hp1
NA20129.hp1
NA20300.hp2
 3_prime_UTR_variant MODIFIER c.*7828G>T
c.*7828G>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 7828 chr17 511300
chr17:511435 C
C
 T
T
 1 a0001c0002t0049
a0001c0002t0049
 1 HG02145.hp2
HG02145.hp2
 3_prime_UTR_variant MODIFIER c.*7693G>A
c.*7693G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 7693 chr17 511435
chr17:511693 G
G
 T
T
 1 a0001c0002t0050
a0001c0002t0050
 1 HG02280.hp1
HG02280.hp1
 3_prime_UTR_variant MODIFIER c.*7435C>A
c.*7435C>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 7435 chr17 511693
chr17:511902 C
C
 T
T
 2 a0001c0001t0108
a0001c0001t0118
a0001c0001t0108
a0001c0001t0118
 2 HG01192.hp1
HG01346.hp2
HG01192.hp1
HG01346.hp2
 3_prime_UTR_variant MODIFIER c.*7226G>A
c.*7226G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 7226 chr17 511902
chr17:511934 T
T
 C
C
 6 a0001c0002t0066
a0001c0002t0072
a0001c0002t0082
others(3): Show 
a0001c0002t0066
a0001c0002t0072
a0001c0002t0082
a0001c0002t0083
a0002c0003t0073
a0004c0008t0133
 6 HG00621.hp2
NA18946.hp2
NA18960.hp1
others(3): Show 
HG00621.hp2
NA18946.hp2
NA18960.hp1
NA18977.hp2
NA19011.hp1
NA19079.hp1
 3_prime_UTR_variant MODIFIER c.*7194A>G
c.*7194A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 7194 chr17 511934
chr17:512151 A
A
 G
G
 1 a0002c0003t0092
a0002c0003t0092
 1 NA19084.hp2
NA19084.hp2
 3_prime_UTR_variant MODIFIER c.*6977T>C
c.*6977T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 6977 chr17 512151
chr17:512427 T
T
 C
C
 108 a0001c0001t0002
a0001c0001t0011
a0001c0001t0015
others(105): Show 
a0001c0001t0002
a0001c0001t0011
a0001c0001t0015
a0001c0001t0016
a0001c0001t0028
a0001c0001t0029
a0001c0001t0030
a0001c0001t0031
a0001c0001t0032
a0001c0001t0033
a0001c0001t0034
a0001c0001t0069
a0001c0001t0084
a0001c0001t0087
a0001c0001t0088
a0001c0001t0094
a0001c0001t0095
a0001c0001t0096
a0001c0001t0097
a0001c0001t0098
a0001c0001t0101
a0001c0001t0102
a0001c0001t0105
a0001c0001t0106
a0001c0001t0107
a0001c0001t0108
a0001c0001t0110
a0001c0001t0111
a0001c0001t0112
a0001c0001t0113
a0001c0001t0114
a0001c0001t0115
a0001c0001t0116
a0001c0001t0117
a0001c0001t0118
a0001c0001t0119
a0001c0001t0120
a0001c0001t0121
a0001c0001t0122
a0001c0001t0127
a0001c0001t0128
a0001c0001t0134
a0001c0001t0138
a0001c0001t0141
a0001c0002t0005
a0001c0002t0007
a0001c0002t0022
a0001c0002t0048
a0001c0002t0049
a0001c0002t0050
a0001c0002t0055
a0001c0002t0058
a0001c0002t0078
a0001c0002t0086
a0001c0002t0100
a0001c0002t0109
a0001c0006t0021
a0001c0006t0039
a0001c0006t0040
a0001c0006t0041
a0001c0006t0053
a0001c0006t0057
a0001c0007t0011
a0001c0007t0012
a0001c0007t0023
a0001c0007t0062
a0001c0007t0070
a0001c0014t0135
a0001c0015t0126
a0002c0003t0008
a0002c0003t0009
a0002c0003t0018
a0002c0003t0027
a0002c0003t0036
a0002c0003t0037
a0002c0003t0085
a0002c0003t0090
a0002c0003t0091
a0002c0003t0092
a0002c0003t0093
a0002c0003t0099
a0002c0003t0104
a0002c0003t0131
a0002c0003t0136
a0002c0003t0139
a0002c0003t0140
a0002c0003t0144
a0002c0003t0145
a0002c0003t0146
a0002c0003t0148
a0002c0003t0150
a0003c0004t0004
a0003c0004t0005
a0003c0004t0006
a0003c0004t0022
a0003c0004t0054
a0003c0004t0056
a0003c0004t0059
a0003c0004t0060
a0003c0004t0061
a0003c0004t0063
a0004c0008t0036
a0004c0008t0103
a0005c0009t0130
a0005c0009t0137
a0005c0009t0147
a0006c0012t0129
a0007c0013t0132
 157 HG00099.hp1
HG00099.hp2
HG00280.hp2
others(154): Show 
HG00099.hp1
HG00099.hp2
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp2
HG00621.hp1
HG00741.hp2
HG01070.hp2
HG01071.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01346.hp2
HG01361.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02056.hp1
HG02056.hp2
HG02074.hp1
HG02083.hp1
HG02083.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
NA18612.hp1
NA18612.hp2
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18955.hp1
NA18957.hp1
NA18959.hp1
NA18959.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18967.hp2
NA18973.hp2
NA18977.hp1
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18990.hp1
NA19000.hp1
NA19007.hp1
NA19009.hp2
NA19010.hp1
NA19011.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19065.hp1
NA19065.hp2
NA19066.hp2
NA19068.hp2
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19084.hp2
NA19087.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
 3_prime_UTR_variant MODIFIER c.*6701A>G
c.*6701A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 6701 chr17 512427
chr17:512486 C
C
 T
T
 1 a0001c0001t0118
a0001c0001t0118
 1 HG01346.hp2
HG01346.hp2
 3_prime_UTR_variant MODIFIER c.*6642G>A
c.*6642G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 6642 chr17 512486
chr17:512552 C
C
 T
T
 1 a0001c0001t0128
a0001c0001t0128
 1 HG02056.hp2
HG02056.hp2
 3_prime_UTR_variant MODIFIER c.*6576G>A
c.*6576G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 6576 chr17 512552
chr17:513155 A
A
 G
G
 45 a0001c0001t0015
a0001c0001t0028
a0001c0001t0029
others(42): Show 
a0001c0001t0015
a0001c0001t0028
a0001c0001t0029
a0001c0001t0033
a0001c0001t0087
a0001c0001t0088
a0001c0001t0094
a0001c0001t0095
a0001c0001t0096
a0001c0001t0097
a0001c0001t0098
a0001c0001t0105
a0001c0001t0111
a0001c0001t0112
a0001c0001t0127
a0001c0002t0005
a0001c0002t0007
a0001c0002t0010
a0001c0002t0043
a0001c0002t0048
a0001c0002t0050
a0001c0002t0058
a0001c0002t0086
a0001c0005t0010
a0001c0005t0019
a0001c0005t0020
a0001c0005t0042
a0001c0005t0044
a0001c0005t0045
a0001c0005t0046
a0001c0011t0051
a0001c0016t0052
a0002c0003t0008
a0002c0003t0009
a0002c0003t0027
a0002c0003t0085
a0002c0003t0089
a0002c0003t0090
a0002c0003t0091
a0002c0003t0092
a0002c0003t0093
a0002c0003t0104
a0002c0003t0150
a0003c0004t0005
a0003c0004t0047
 66 HG00423.hp2
HG01074.hp2
HG01099.hp1
others(63): Show 
HG00423.hp2
HG01074.hp2
HG01099.hp1
HG01109.hp2
HG01167.hp1
HG01168.hp2
HG01884.hp1
HG01891.hp1
HG01928.hp1
HG01981.hp1
HG02040.hp1
HG02056.hp1
HG02074.hp2
HG02083.hp1
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02280.hp1
HG02293.hp1
HG02300.hp1
HG02602.hp1
HG02622.hp1
HG02622.hp2
HG02723.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp2
HG02922.hp2
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03491.hp2
NA18612.hp1
NA18747.hp1
NA18944.hp1
NA18945.hp1
NA18948.hp2
NA18950.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp1
NA18962.hp2
NA18979.hp1
NA18987.hp1
NA18994.hp1
NA18994.hp2
NA19000.hp1
NA19000.hp2
NA19007.hp1
NA19009.hp1
NA19010.hp1
NA19010.hp2
NA19060.hp1
NA19060.hp2
NA19065.hp1
NA19074.hp1
NA19080.hp2
NA19081.hp1
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19090.hp1
NA19091.hp1
NA20129.hp1
NA20300.hp2
 3_prime_UTR_variant MODIFIER c.*5973T>C
c.*5973T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 5973 chr17 513155
chr17:513484 T
T
 G
G
 48 a0001c0001t0015
a0001c0001t0028
a0001c0001t0029
others(45): Show 
a0001c0001t0015
a0001c0001t0028
a0001c0001t0029
a0001c0001t0033
a0001c0001t0087
a0001c0001t0088
a0001c0001t0094
a0001c0001t0095
a0001c0001t0096
a0001c0001t0097
a0001c0001t0098
a0001c0001t0105
a0001c0001t0111
a0001c0001t0112
a0001c0001t0127
a0001c0002t0005
a0001c0002t0007
a0001c0002t0010
a0001c0002t0043
a0001c0002t0048
a0001c0002t0049
a0001c0002t0050
a0001c0002t0058
a0001c0002t0078
a0001c0002t0086
a0001c0005t0010
a0001c0005t0019
a0001c0005t0020
a0001c0005t0042
a0001c0005t0044
a0001c0005t0045
a0001c0005t0046
a0001c0011t0051
a0001c0014t0135
a0001c0016t0052
a0002c0003t0008
a0002c0003t0009
a0002c0003t0027
a0002c0003t0085
a0002c0003t0089
a0002c0003t0090
a0002c0003t0091
a0002c0003t0092
a0002c0003t0093
a0002c0003t0104
a0002c0003t0150
a0003c0004t0005
a0003c0004t0047
 69 HG00423.hp2
HG01074.hp2
HG01099.hp1
others(66): Show 
HG00423.hp2
HG01074.hp2
HG01099.hp1
HG01109.hp2
HG01167.hp1
HG01168.hp2
HG01884.hp1
HG01891.hp1
HG01928.hp1
HG01981.hp1
HG02040.hp1
HG02056.hp1
HG02074.hp2
HG02083.hp1
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02280.hp1
HG02293.hp1
HG02300.hp1
HG02572.hp1
HG02602.hp1
HG02622.hp1
HG02622.hp2
HG02723.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp2
HG02922.hp2
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03491.hp2
HG03516.hp2
NA18612.hp1
NA18747.hp1
NA18944.hp1
NA18945.hp1
NA18948.hp2
NA18950.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp1
NA18962.hp2
NA18979.hp1
NA18987.hp1
NA18994.hp1
NA18994.hp2
NA19000.hp1
NA19000.hp2
NA19007.hp1
NA19009.hp1
NA19010.hp1
NA19010.hp2
NA19060.hp1
NA19060.hp2
NA19065.hp1
NA19074.hp1
NA19080.hp2
NA19081.hp1
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19090.hp1
NA19091.hp1
NA20129.hp1
NA20300.hp2
 3_prime_UTR_variant MODIFIER c.*5644A>C
c.*5644A>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 5644 chr17 513484
chr17:513530 T
T
 C
C
 2 a0001c0001t0015
a0001c0001t0094
a0001c0001t0015
a0001c0001t0094
 4 HG00423.hp2
NA18950.hp1
NA18961.hp1
others(1): Show 
HG00423.hp2
NA18950.hp1
NA18961.hp1
NA19060.hp2
 3_prime_UTR_variant MODIFIER c.*5598A>G
c.*5598A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 5598 chr17 513530
chr17:513592 GGCAGGTT
others(177): Show 
GGCAGGTTGTTCTGAGTGCTCTTCCTAGCGAAGGAATCCCATTTCCAGCA
GGTTATTCCGAGTGCTCTTCCTAGCGAAGGAATCCCATTTCCAGCAGGTT
ATTCCGAGTGCTCTTCCTAGGGAAGGAATCTCATTTCCAGCAGGTTATTC
CGAGTGCTCTTCCTAGGGAAGGAATCCCATTTCCA
 G
G
 1 a0001c0002t0055
a0001c0002t0055
 1 NA18906.hp2
NA18906.hp2
 3_prime_UTR_variant MODIFIER c.*5352_*5535del
c.*5352_*5535del
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 5352 chr17 513592
chr17:513604 TGAGTGCT
others(39): Show 
TGAGTGCTCTTCCTAGCGAAGGAATCCCATTTCCAGCAGGTTATTCC
 T
T
 53 a0001c0001t0002
a0001c0001t0011
a0001c0001t0016
others(50): Show 
a0001c0001t0002
a0001c0001t0011
a0001c0001t0016
a0001c0001t0030
a0001c0001t0031
a0001c0001t0032
a0001c0001t0034
a0001c0001t0069
a0001c0001t0084
a0001c0001t0094
a0001c0001t0106
a0001c0001t0107
a0001c0001t0110
a0001c0001t0113
a0001c0001t0114
a0001c0001t0115
a0001c0001t0116
a0001c0001t0117
a0001c0001t0119
a0001c0001t0120
a0001c0001t0121
a0001c0001t0122
a0001c0001t0128
a0001c0001t0134
a0001c0001t0138
a0001c0001t0141
a0001c0002t0078
a0001c0002t0109
a0001c0006t0041
a0001c0007t0011
a0001c0007t0012
a0001c0007t0023
a0001c0007t0062
a0001c0007t0070
a0001c0014t0135
a0001c0015t0126
a0002c0003t0018
a0002c0003t0036
a0002c0003t0037
a0002c0003t0091
a0002c0003t0131
a0002c0003t0136
a0002c0003t0139
a0002c0003t0140
a0002c0003t0144
a0002c0003t0146
a0002c0003t0148
a0004c0008t0036
a0005c0009t0130
a0005c0009t0137
a0005c0009t0147
a0006c0012t0129
a0007c0013t0132
 74 HG00099.hp1
HG00323.hp2
HG00423.hp1
others(71): Show 
HG00099.hp1
HG00323.hp2
HG00423.hp1
HG00621.hp1
HG00741.hp2
HG01070.hp2
HG01071.hp1
HG01081.hp2
HG01106.hp2
HG01109.hp1
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01361.hp2
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp2
HG01891.hp2
HG01928.hp2
HG01978.hp2
HG02040.hp2
HG02056.hp2
HG02083.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02280.hp2
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02572.hp1
HG02602.hp2
HG02723.hp1
HG02738.hp2
HG02895.hp1
HG02922.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03688.hp2
HG03831.hp1
HG03942.hp1
HG04184.hp2
HG04199.hp2
HG04204.hp1
NA18940.hp2
NA18945.hp2
NA18946.hp1
NA18950.hp1
NA18955.hp1
NA18967.hp2
NA18978.hp2
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18986.hp1
NA18987.hp2
NA19009.hp2
NA19065.hp2
NA19066.hp2
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19079.hp2
NA19090.hp2
NA20129.hp2
NA20300.hp1
 3_prime_UTR_variant MODIFIER c.*5478_*5523delGGAA
others(42): Show 
c.*5478_*5523delGGAATAACCTGCTGGAAATGGGATTCCTTCGCTA
GGAAGAGCACTC
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 5478 chr17 513604
chr17:513604 TGAGTGCT
others(223): Show 
TGAGTGCTCTTCCTAGCGAAGGAATCCCATTTCCAGCAGGTTATTCCGAG
TGCTCTTCCTAGCGAAGGAATCCCATTTCCAGCAGGTTATTCCGAGTGCT
CTTCCTAGGGAAGGAATCTCATTTCCAGCAGGTTATTCCGAGTGCTCTTC
CTAGGGAAGGAATCCCATTTCCAGCAGGTTATTCCGAGTGCTCTTCCTAG
CGAAGGAATCCCATTTCCAGCAGGTTATTCC
 T
T
 5 a0001c0002t0022
a0003c0004t0022
a0003c0004t0054
others(2): Show 
a0001c0002t0022
a0003c0004t0022
a0003c0004t0054
a0003c0004t0056
a0003c0004t0060
 5 HG03831.hp2
NA18940.hp1
NA18961.hp2
others(2): Show 
HG03831.hp2
NA18940.hp1
NA18961.hp2
NA19080.hp1
NA19087.hp2
 3_prime_UTR_variant MODIFIER c.*5294_*5523del
c.*5294_*5523del
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 5294 chr17 513604
chr17:513630 CCATTTCC
others(85): Show 
CCATTTCCAGCAGGTTATTCCGAGTGCTCTTCCTAGCGAAGGAATCCCAT
TTCCAGCAGGTTATTCCGAGTGCTCTTCCTAGGGAAGGAATCT
 C
C
 30 a0001c0001t0015
a0001c0001t0028
a0001c0001t0029
others(27): Show 
a0001c0001t0015
a0001c0001t0028
a0001c0001t0029
a0001c0001t0033
a0001c0001t0087
a0001c0001t0088
a0001c0001t0095
a0001c0001t0096
a0001c0001t0097
a0001c0001t0105
a0001c0001t0111
a0001c0001t0112
a0001c0001t0127
a0001c0002t0005
a0001c0002t0007
a0001c0002t0048
a0001c0002t0049
a0001c0002t0050
a0001c0002t0058
a0001c0002t0086
a0002c0003t0008
a0002c0003t0009
a0002c0003t0027
a0002c0003t0085
a0002c0003t0090
a0002c0003t0092
a0002c0003t0093
a0002c0003t0104
a0002c0003t0150
a0003c0004t0005
 48 HG00423.hp2
HG01099.hp1
HG01109.hp2
others(45): Show 
HG00423.hp2
HG01099.hp1
HG01109.hp2
HG01167.hp1
HG01884.hp1
HG01891.hp1
HG01928.hp1
HG01981.hp1
HG02040.hp1
HG02056.hp1
HG02083.hp1
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02280.hp1
HG02293.hp1
HG02622.hp1
HG02622.hp2
HG02723.hp2
HG02818.hp1
HG02886.hp2
HG02895.hp2
HG02922.hp2
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03491.hp2
NA18612.hp1
NA18945.hp1
NA18948.hp2
NA18959.hp2
NA18961.hp1
NA18962.hp2
NA18979.hp1
NA18987.hp1
NA19000.hp1
NA19007.hp1
NA19010.hp1
NA19060.hp1
NA19060.hp2
NA19065.hp1
NA19074.hp1
NA19080.hp2
NA19081.hp1
NA19084.hp2
NA19090.hp1
NA20129.hp1
NA20300.hp2
 3_prime_UTR_variant MODIFIER c.*5406_*5497delAGAT
others(88): Show 
c.*5406_*5497delAGATTCCTTCCCTAGGAAGAGCACTCGGAATAAC
CTGCTGGAAATGGGATTCCTTCGCTAGGAAGAGCACTCGGAATAACCTGC
TGGAAATG
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 5406 chr17 513630
chr17:513661 C
C
 T
T
 1 a0001c0001t0115
a0001c0001t0115
 1 HG03492.hp2
HG03492.hp2
 3_prime_UTR_variant MODIFIER c.*5467G>A
c.*5467G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 5467 chr17 513661
chr17:513666 C
C
 G
G
 32 a0001c0001t0098
a0001c0001t0101
a0001c0001t0102
others(29): Show 
a0001c0001t0098
a0001c0001t0101
a0001c0001t0102
a0001c0001t0108
a0001c0001t0118
a0001c0002t0010
a0001c0002t0043
a0001c0002t0100
a0001c0005t0010
a0001c0005t0019
a0001c0005t0020
a0001c0005t0042
a0001c0005t0044
a0001c0005t0045
a0001c0005t0046
a0001c0006t0021
a0001c0006t0039
a0001c0006t0040
a0001c0006t0053
a0001c0006t0057
a0001c0011t0051
a0001c0016t0052
a0002c0003t0089
a0002c0003t0099
a0002c0003t0145
a0003c0004t0004
a0003c0004t0006
a0003c0004t0047
a0003c0004t0059
a0003c0004t0061
a0003c0004t0063
a0004c0008t0103
 45 HG00099.hp2
HG00280.hp2
HG00438.hp2
others(42): Show 
HG00099.hp2
HG00280.hp2
HG00438.hp2
HG01074.hp2
HG01168.hp2
HG01192.hp1
HG01346.hp2
HG01515.hp2
HG01981.hp2
HG02074.hp1
HG02074.hp2
HG02135.hp2
HG02572.hp2
HG02602.hp1
HG02818.hp2
HG03139.hp1
HG03491.hp1
HG03492.hp1
HG04199.hp1
NA18612.hp2
NA18747.hp1
NA18944.hp1
NA18944.hp2
NA18950.hp2
NA18957.hp1
NA18959.hp1
NA18960.hp2
NA18962.hp1
NA18973.hp2
NA18977.hp1
NA18978.hp1
NA18984.hp1
NA18986.hp2
NA18990.hp1
NA18994.hp1
NA18994.hp2
NA19000.hp2
NA19009.hp1
NA19010.hp2
NA19011.hp2
NA19064.hp1
NA19084.hp1
NA19087.hp1
NA19091.hp1
NA19091.hp2
 3_prime_UTR_variant MODIFIER c.*5462G>C
c.*5462G>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 5462 chr17 513666
chr17:513673 A
A
 G
G
 1 a0001c0001t0108
a0001c0001t0108
 1 HG01192.hp1
HG01192.hp1
 3_prime_UTR_variant MODIFIER c.*5455T>C
c.*5455T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 5455 chr17 513673
chr17:513676 C
C
 T
T
 18 a0001c0001t0098
a0001c0001t0101
a0001c0001t0102
others(15): Show 
a0001c0001t0098
a0001c0001t0101
a0001c0001t0102
a0001c0001t0108
a0001c0001t0118
a0001c0002t0100
a0001c0006t0021
a0001c0006t0039
a0001c0006t0040
a0001c0006t0053
a0002c0003t0099
a0002c0003t0145
a0003c0004t0004
a0003c0004t0006
a0003c0004t0059
a0003c0004t0061
a0003c0004t0063
a0004c0008t0103
 28 HG00099.hp2
HG00438.hp2
HG01192.hp1
others(25): Show 
HG00099.hp2
HG00438.hp2
HG01192.hp1
HG01346.hp2
HG01515.hp2
HG01981.hp2
HG02074.hp1
HG02572.hp2
HG02818.hp2
HG03139.hp1
HG03491.hp1
HG03492.hp1
HG04199.hp1
NA18612.hp2
NA18944.hp2
NA18950.hp2
NA18957.hp1
NA18959.hp1
NA18962.hp1
NA18973.hp2
NA18977.hp1
NA18978.hp1
NA18984.hp1
NA18986.hp2
NA18990.hp1
NA19011.hp2
NA19064.hp1
NA19091.hp2
 3_prime_UTR_variant MODIFIER c.*5452G>A
c.*5452G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 5452 chr17 513676
chr17:513676 CCATTTCC
others(223): Show 
CCATTTCCAGCAGGTTATTCCGAGTGCTCTTCCTAGGGAAGGAATCTCAT
TTCCAGCAGGTTATTCCGAGTGCTCTTCCTAGGGAAGGAATCCCATTTCC
AGCAGGTTATTCCGAGTGCTCTTCCTAGCGAAGGAATCCCATTTCCAGCA
GGTTATTCCGAGTGCTCTTCCTAGCGAAGGAATCCCATTTCCAGCAGGTT
ATTCCGAGTGCTCTTCCTAGCGAAGGAATCT
 C
C
 1 a0001c0006t0057
a0001c0006t0057
 1 HG00280.hp2
HG00280.hp2
 3_prime_UTR_variant MODIFIER c.*5222_*5451del
c.*5222_*5451del
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 5222 chr17 513676
chr17:513712 GGAAGGAA
others(177): Show 
GGAAGGAATCTCATTTCCAGCAGGTTATTCCGAGTGCTCTTCCTAGGGAA
GGAATCCCATTTCCAGCAGGTTATTCCGAGTGCTCTTCCTAGCGAAGGAA
TCCCATTTCCAGCAGGTTATTCCGAGTGCTCTTCCTAGCGAAGGAATCCC
ATTTCCAGCAGGTTATTCCGAGTGCTCTTCCTAGC
 G
G
 14 a0001c0001t0101
a0001c0001t0102
a0001c0002t0100
others(11): Show 
a0001c0001t0101
a0001c0001t0102
a0001c0002t0100
a0001c0006t0021
a0001c0006t0039
a0001c0006t0040
a0001c0006t0053
a0002c0003t0099
a0003c0004t0004
a0003c0004t0006
a0003c0004t0059
a0003c0004t0061
a0003c0004t0063
a0004c0008t0103
 24 HG00099.hp2
HG00438.hp2
HG01515.hp2
others(21): Show 
HG00099.hp2
HG00438.hp2
HG01515.hp2
HG01981.hp2
HG02074.hp1
HG02572.hp2
HG03139.hp1
HG03491.hp1
HG03492.hp1
NA18612.hp2
NA18944.hp2
NA18950.hp2
NA18957.hp1
NA18959.hp1
NA18962.hp1
NA18973.hp2
NA18977.hp1
NA18978.hp1
NA18984.hp1
NA18986.hp2
NA18990.hp1
NA19011.hp2
NA19064.hp1
NA19091.hp2
 3_prime_UTR_variant MODIFIER c.*5232_*5415del
c.*5232_*5415del
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 5232 chr17 513712
chr17:513713 G
G
 T
T
 1 a0001c0001t0098
a0001c0001t0098
 1 HG02818.hp2
HG02818.hp2
 3_prime_UTR_variant MODIFIER c.*5415C>A
c.*5415C>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 5415 chr17 513713
chr17:513722 T
T
 C
C
 6 a0001c0001t0098
a0001c0001t0108
a0001c0001t0118
others(3): Show 
a0001c0001t0098
a0001c0001t0108
a0001c0001t0118
a0001c0006t0068
a0001c0006t0074
a0002c0003t0145
 6 HG01099.hp2
HG01192.hp1
HG01346.hp2
others(3): Show 
HG01099.hp2
HG01192.hp1
HG01346.hp2
HG02818.hp2
HG04199.hp1
NA18948.hp1
 3_prime_UTR_variant MODIFIER c.*5406A>G
c.*5406A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 5406 chr17 513722
chr17:513758 G
G
 C
C
 3 a0001c0001t0108
a0001c0001t0118
a0002c0003t0145
a0001c0001t0108
a0001c0001t0118
a0002c0003t0145
 3 HG01192.hp1
HG01346.hp2
HG04199.hp1
HG01192.hp1
HG01346.hp2
HG04199.hp1
 3_prime_UTR_variant MODIFIER c.*5370C>G
c.*5370C>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 5370 chr17 513758
chr17:513758 GGAAGGAA
others(39): Show 
GGAAGGAATCCCATTTCCAGCAGGTTATTCCGAGTGCTCTTCCTAGC
 G
G
 3 a0001c0001t0094
a0001c0011t0051
a0001c0016t0052
a0001c0001t0094
a0001c0011t0051
a0001c0016t0052
 3 HG01074.hp2
HG01168.hp2
NA18950.hp1
HG01074.hp2
HG01168.hp2
NA18950.hp1
 3_prime_UTR_variant MODIFIER c.*5324_*5369delGCTA
others(42): Show 
c.*5324_*5369delGCTAGGAAGAGCACTCGGAATAACCTGCTGGAAA
TGGGATTCCTTC
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 5324 chr17 513758
chr17:513759 G
G
 T
T
 1 a0001c0001t0098
a0001c0001t0098
 1 HG02818.hp2
HG02818.hp2
 3_prime_UTR_variant MODIFIER c.*5369C>A
c.*5369C>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 5369 chr17 513759
chr17:513768 C
C
 T
T
 30 a0001c0001t0015
a0001c0001t0028
a0001c0001t0029
others(27): Show 
a0001c0001t0015
a0001c0001t0028
a0001c0001t0029
a0001c0001t0033
a0001c0001t0087
a0001c0001t0088
a0001c0001t0095
a0001c0001t0096
a0001c0001t0097
a0001c0001t0105
a0001c0001t0111
a0001c0001t0112
a0001c0001t0127
a0001c0002t0005
a0001c0002t0007
a0001c0002t0048
a0001c0002t0049
a0001c0002t0050
a0001c0002t0058
a0001c0002t0086
a0002c0003t0008
a0002c0003t0009
a0002c0003t0027
a0002c0003t0085
a0002c0003t0090
a0002c0003t0092
a0002c0003t0093
a0002c0003t0104
a0002c0003t0150
a0003c0004t0005
 48 HG00423.hp2
HG01099.hp1
HG01109.hp2
others(45): Show 
HG00423.hp2
HG01099.hp1
HG01109.hp2
HG01167.hp1
HG01884.hp1
HG01891.hp1
HG01928.hp1
HG01981.hp1
HG02040.hp1
HG02056.hp1
HG02083.hp1
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02280.hp1
HG02293.hp1
HG02622.hp1
HG02622.hp2
HG02723.hp2
HG02818.hp1
HG02886.hp2
HG02895.hp2
HG02922.hp2
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03491.hp2
NA18612.hp1
NA18945.hp1
NA18948.hp2
NA18959.hp2
NA18961.hp1
NA18962.hp2
NA18979.hp1
NA18987.hp1
NA19000.hp1
NA19007.hp1
NA19010.hp1
NA19060.hp1
NA19060.hp2
NA19065.hp1
NA19074.hp1
NA19080.hp2
NA19081.hp1
NA19084.hp2
NA19090.hp1
NA20129.hp1
NA20300.hp2
 3_prime_UTR_variant MODIFIER c.*5360G>A
c.*5360G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 5360 chr17 513768
chr17:513788 C
C
 T
T
 2 a0001c0001t0108
a0001c0001t0118
a0001c0001t0108
a0001c0001t0118
 2 HG01192.hp1
HG01346.hp2
HG01192.hp1
HG01346.hp2
 3_prime_UTR_variant MODIFIER c.*5340G>A
c.*5340G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 5340 chr17 513788
chr17:513804 C
C
 G
G
 32 a0001c0001t0015
a0001c0001t0028
a0001c0001t0029
others(29): Show 
a0001c0001t0015
a0001c0001t0028
a0001c0001t0029
a0001c0001t0033
a0001c0001t0087
a0001c0001t0088
a0001c0001t0095
a0001c0001t0096
a0001c0001t0097
a0001c0001t0105
a0001c0001t0108
a0001c0001t0111
a0001c0001t0112
a0001c0001t0118
a0001c0001t0127
a0001c0002t0005
a0001c0002t0007
a0001c0002t0048
a0001c0002t0049
a0001c0002t0050
a0001c0002t0058
a0001c0002t0086
a0002c0003t0008
a0002c0003t0009
a0002c0003t0027
a0002c0003t0085
a0002c0003t0090
a0002c0003t0092
a0002c0003t0093
a0002c0003t0104
a0002c0003t0150
a0003c0004t0005
 50 HG00423.hp2
HG01099.hp1
HG01109.hp2
others(47): Show 
HG00423.hp2
HG01099.hp1
HG01109.hp2
HG01167.hp1
HG01192.hp1
HG01346.hp2
HG01884.hp1
HG01891.hp1
HG01928.hp1
HG01981.hp1
HG02040.hp1
HG02056.hp1
HG02083.hp1
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02280.hp1
HG02293.hp1
HG02622.hp1
HG02622.hp2
HG02723.hp2
HG02818.hp1
HG02886.hp2
HG02895.hp2
HG02922.hp2
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03491.hp2
NA18612.hp1
NA18945.hp1
NA18948.hp2
NA18959.hp2
NA18961.hp1
NA18962.hp2
NA18979.hp1
NA18987.hp1
NA19000.hp1
NA19007.hp1
NA19010.hp1
NA19060.hp1
NA19060.hp2
NA19065.hp1
NA19074.hp1
NA19080.hp2
NA19081.hp1
NA19084.hp2
NA19090.hp1
NA20129.hp1
NA20300.hp2
 3_prime_UTR_variant MODIFIER c.*5324G>C
c.*5324G>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 5324 chr17 513804
chr17:513804 CGAAGGAA
others(545): Show 
CGAAGGAATCCCATTTCCAGCAGGTTATTCCGAGTGCTCTTCCTAGCGAA
GGAATCCCATTTCCAGCAGGTTATTCCGAGTGCTCTTCCTAGCGAAGGAA
TCTCATTTCCAGCAGGTTATTCCGAGTGCTCTTCCTAGCGAAGGAATCCC
ATTTCCAGCAGGTTATTCCGAGTGCTCTTCCTAGCGAAGGAATCTCATTT
CCAGCAGGTTATTCCGAGTGCTCTTCCTAGCGAAGGAATCCCATTTCCAG
CAGGTTATTCCGAGTGCTCTTCCTAGGGAAGGAATCTCATTTCCAGCAGG
TTATTCCGAGTGCTCTTCCTAGCGAAGGAATCCCATTTCCAGCAGGTTAT
TCCGAGTGCTCTTCCTAGCGAAGGAATCCCATTTCCAGCAGGTTATTCCG
AGTGCTCTTCCTAGCGAAGGAACCCCATTTCCAGCAGGTTATTCCGAGTG
CTCTTCCTAGGGAAGGAACCCCATTTCCAGCAGGTTATTCCGAGTGCTCT
TCCTAGGGAAGGAACCCCATTTCCAGCAGGTTATTCCGAGTGCTCTTCCT
AGG
 C
C
 1 a0001c0001t0098
a0001c0001t0098
 1 HG02818.hp2
HG02818.hp2
 3_prime_UTR_variant MODIFIER c.*4772_*5323del
c.*4772_*5323del
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 4772 chr17 513804
chr17:513814 C
C
 T
T
 2 a0001c0001t0108
a0001c0001t0118
a0001c0001t0108
a0001c0001t0118
 2 HG01192.hp1
HG01346.hp2
HG01192.hp1
HG01346.hp2
 3_prime_UTR_variant MODIFIER c.*5314G>A
c.*5314G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 5314 chr17 513814
chr17:513814 CCATTTCC
others(85): Show 
CCATTTCCAGCAGGTTATTCCGAGTGCTCTTCCTAGCGAAGGAATCCCAT
TTCCAGCAGGTTATTCCGAGTGCTCTTCCTAGCGAAGGAATCT
 C
C
 2 a0001c0002t0078
a0001c0014t0135
a0001c0002t0078
a0001c0014t0135
 2 HG02572.hp1
HG03516.hp2
HG02572.hp1
HG03516.hp2
 3_prime_UTR_variant MODIFIER c.*5222_*5313delAGAT
others(88): Show 
c.*5222_*5313delAGATTCCTTCGCTAGGAAGAGCACTCGGAATAAC
CTGCTGGAAATGGGATTCCTTCGCTAGGAAGAGCACTCGGAATAACCTGC
TGGAAATG
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 5222 chr17 513814
chr17:513814 CCATTTCC
others(177): Show 
CCATTTCCAGCAGGTTATTCCGAGTGCTCTTCCTAGCGAAGGAATCCCAT
TTCCAGCAGGTTATTCCGAGTGCTCTTCCTAGCGAAGGAATCTCATTTCC
AGCAGGTTATTCCGAGTGCTCTTCCTAGCGAAGGAATCCCATTTCCAGCA
GGTTATTCCGAGTGCTCTTCCTAGCGAAGGAATCT
 C
C
 6 a0001c0002t0010
a0001c0005t0010
a0001c0005t0019
others(3): Show 
a0001c0002t0010
a0001c0005t0010
a0001c0005t0019
a0001c0005t0020
a0001c0005t0044
a0001c0005t0046
 6 HG02602.hp1
NA18747.hp1
NA18960.hp2
others(3): Show 
HG02602.hp1
NA18747.hp1
NA18960.hp2
NA18994.hp2
NA19009.hp1
NA19091.hp1
 3_prime_UTR_variant MODIFIER c.*5130_*5313del
c.*5130_*5313del
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 5130 chr17 513814
chr17:513814 CCATTTCC
others(269): Show 
CCATTTCCAGCAGGTTATTCCGAGTGCTCTTCCTAGCGAAGGAATCCCAT
TTCCAGCAGGTTATTCCGAGTGCTCTTCCTAGCGAAGGAATCTCATTTCC
AGCAGGTTATTCCGAGTGCTCTTCCTAGCGAAGGAATCCCATTTCCAGCA
GGTTATTCCGAGTGCTCTTCCTAGCGAAGGAATCTCATTTCCAGCAGGTT
ATTCCGAGTGCTCTTCCTAGCGAAGGAATCCCATTTCCAGCAGGTTATTC
CGAGTGCTCTTCCTAGGGAAGGAATCT
 C
C
 1 a0002c0003t0145
a0002c0003t0145
 1 HG04199.hp1
HG04199.hp1
 3_prime_UTR_variant MODIFIER c.*5038_*5313del
c.*5038_*5313del
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 5038 chr17 513814
chr17:513850 C
C
 G
G
 10 a0001c0002t0010
a0001c0002t0043
a0001c0002t0055
others(7): Show 
a0001c0002t0010
a0001c0002t0043
a0001c0002t0055
a0001c0005t0019
a0001c0005t0020
a0001c0005t0042
a0001c0005t0045
a0002c0003t0089
a0002c0003t0091
a0003c0004t0047
 10 HG02074.hp2
HG02135.hp2
HG02300.hp1
others(7): Show 
HG02074.hp2
HG02135.hp2
HG02300.hp1
NA18906.hp2
NA18944.hp1
NA18994.hp1
NA19000.hp2
NA19010.hp2
NA19084.hp1
NA19087.hp1
 3_prime_UTR_variant MODIFIER c.*5278G>C
c.*5278G>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 5278 chr17 513850
chr17:513860 C
C
 T
T
 10 a0001c0002t0010
a0001c0002t0043
a0001c0002t0055
others(7): Show 
a0001c0002t0010
a0001c0002t0043
a0001c0002t0055
a0001c0005t0019
a0001c0005t0020
a0001c0005t0042
a0001c0005t0045
a0002c0003t0089
a0002c0003t0091
a0003c0004t0047
 10 HG02074.hp2
HG02135.hp2
HG02300.hp1
others(7): Show 
HG02074.hp2
HG02135.hp2
HG02300.hp1
NA18906.hp2
NA18944.hp1
NA18994.hp1
NA19000.hp2
NA19010.hp2
NA19084.hp1
NA19087.hp1
 3_prime_UTR_variant MODIFIER c.*5268G>A
c.*5268G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 5268 chr17 513860
chr17:513896 C
C
 G
G
 48 a0001c0001t0015
a0001c0001t0028
a0001c0001t0029
others(45): Show 
a0001c0001t0015
a0001c0001t0028
a0001c0001t0029
a0001c0001t0033
a0001c0001t0087
a0001c0001t0088
a0001c0001t0094
a0001c0001t0095
a0001c0001t0096
a0001c0001t0097
a0001c0001t0105
a0001c0001t0111
a0001c0001t0112
a0001c0001t0127
a0001c0002t0005
a0001c0002t0007
a0001c0002t0010
a0001c0002t0022
a0001c0002t0043
a0001c0002t0048
a0001c0002t0049
a0001c0002t0050
a0001c0002t0055
a0001c0002t0058
a0001c0002t0086
a0001c0005t0019
a0001c0005t0020
a0001c0005t0042
a0001c0005t0045
a0001c0011t0051
a0001c0016t0052
a0002c0003t0008
a0002c0003t0009
a0002c0003t0027
a0002c0003t0085
a0002c0003t0089
a0002c0003t0090
a0002c0003t0091
a0002c0003t0092
a0002c0003t0093
a0002c0003t0104
a0002c0003t0150
a0003c0004t0005
a0003c0004t0022
a0003c0004t0047
a0003c0004t0054
a0003c0004t0056
a0003c0004t0060
 66 HG00423.hp2
HG01074.hp2
HG01099.hp1
others(63): Show 
HG00423.hp2
HG01074.hp2
HG01099.hp1
HG01109.hp2
HG01167.hp1
HG01168.hp2
HG01884.hp1
HG01891.hp1
HG01928.hp1
HG01981.hp1
HG02040.hp1
HG02056.hp1
HG02074.hp2
HG02083.hp1
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02280.hp1
HG02293.hp1
HG02300.hp1
HG02622.hp1
HG02622.hp2
HG02723.hp2
HG02818.hp1
HG02886.hp2
HG02895.hp2
HG02922.hp2
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03491.hp2
HG03831.hp2
NA18612.hp1
NA18906.hp2
NA18940.hp1
NA18944.hp1
NA18945.hp1
NA18948.hp2
NA18950.hp1
NA18959.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp2
NA18979.hp1
NA18987.hp1
NA18994.hp1
NA19000.hp1
NA19000.hp2
NA19007.hp1
NA19010.hp1
NA19010.hp2
NA19060.hp1
NA19060.hp2
NA19065.hp1
NA19074.hp1
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19087.hp2
NA19090.hp1
NA20129.hp1
NA20300.hp2
 3_prime_UTR_variant MODIFIER c.*5232G>C
c.*5232G>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 5232 chr17 513896
chr17:513904 TCTCATTT
others(315): Show 
TCTCATTTCCAGCAGGTTATTCCGAGTGCTCTTCCTAGCGAAGGAATCCC
ATTTCCAGCAGGTTATTCCGAGTGCTCTTCCTAGCGAAGGAATCTCATTT
CCAGCAGGTTATTCCGAGTGCTCTTCCTAGCGAAGGAATCCCATTTCCAG
CAGGTTATTCCGAGTGCTCTTCCTAGGGAAGGAATCTCATTTCCAGCAGG
TTATTCCGAGTGCTCTTCCTAGCGAAGGAATCCCATTTCCAGCAGGTTAT
TCCGAGTGCTCTTCCTAGCGAAGGAATCCCATTTCCAGCAGGTTATTCCG
AGTGCTCTTCCTAGCGAAGGAAC
 T
T
 2 a0001c0001t0108
a0001c0001t0118
a0001c0001t0108
a0001c0001t0118
 2 HG01192.hp1
HG01346.hp2
HG01192.hp1
HG01346.hp2
 3_prime_UTR_variant MODIFIER c.*4902_*5223del
c.*4902_*5223del
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 4902 chr17 513904
chr17:513906 T
T
 C
C
 73 a0001c0001t0002
a0001c0001t0011
a0001c0001t0016
others(70): Show 
a0001c0001t0002
a0001c0001t0011
a0001c0001t0016
a0001c0001t0030
a0001c0001t0031
a0001c0001t0032
a0001c0001t0034
a0001c0001t0069
a0001c0001t0084
a0001c0001t0101
a0001c0001t0102
a0001c0001t0106
a0001c0001t0107
a0001c0001t0110
a0001c0001t0113
a0001c0001t0114
a0001c0001t0115
a0001c0001t0116
a0001c0001t0117
a0001c0001t0119
a0001c0001t0120
a0001c0001t0121
a0001c0001t0122
a0001c0001t0128
a0001c0001t0134
a0001c0001t0138
a0001c0001t0141
a0001c0002t0010
a0001c0002t0043
a0001c0002t0055
a0001c0002t0100
a0001c0002t0109
a0001c0005t0019
a0001c0005t0020
a0001c0005t0042
a0001c0005t0045
a0001c0006t0021
a0001c0006t0039
a0001c0006t0040
a0001c0006t0041
a0001c0006t0053
a0001c0007t0011
a0001c0007t0012
a0001c0007t0023
a0001c0007t0062
a0001c0007t0070
a0001c0015t0126
a0002c0003t0018
a0002c0003t0036
a0002c0003t0037
a0002c0003t0089
a0002c0003t0091
a0002c0003t0099
a0002c0003t0131
a0002c0003t0136
a0002c0003t0139
a0002c0003t0140
a0002c0003t0144
a0002c0003t0146
a0002c0003t0148
a0003c0004t0004
a0003c0004t0006
a0003c0004t0047
a0003c0004t0059
a0003c0004t0061
a0003c0004t0063
a0004c0008t0036
a0004c0008t0103
a0005c0009t0130
a0005c0009t0137
a0005c0009t0147
a0006c0012t0129
a0007c0013t0132
 104 HG00099.hp1
HG00099.hp2
HG00323.hp2
others(101): Show 
HG00099.hp1
HG00099.hp2
HG00323.hp2
HG00423.hp1
HG00438.hp2
HG00621.hp1
HG00741.hp2
HG01070.hp2
HG01071.hp1
HG01081.hp2
HG01106.hp2
HG01109.hp1
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01361.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp2
HG01884.hp2
HG01891.hp2
HG01928.hp2
HG01978.hp2
HG01981.hp2
HG02040.hp2
HG02056.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp2
HG02280.hp2
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02572.hp2
HG02602.hp2
HG02723.hp1
HG02738.hp2
HG02895.hp1
HG02922.hp1
HG03139.hp1
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03688.hp2
HG03831.hp1
HG03942.hp1
HG04184.hp2
HG04199.hp2
HG04204.hp1
NA18612.hp2
NA18906.hp2
NA18940.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp2
NA18946.hp1
NA18950.hp2
NA18955.hp1
NA18957.hp1
NA18959.hp1
NA18962.hp1
NA18967.hp2
NA18973.hp2
NA18977.hp1
NA18978.hp1
NA18978.hp2
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18986.hp1
NA18986.hp2
NA18987.hp2
NA18990.hp1
NA18994.hp1
NA19000.hp2
NA19009.hp2
NA19010.hp2
NA19011.hp2
NA19064.hp1
NA19065.hp2
NA19066.hp2
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19079.hp2
NA19084.hp1
NA19087.hp1
NA19090.hp2
NA19091.hp2
NA20129.hp2
NA20300.hp1
 3_prime_UTR_variant MODIFIER c.*5222A>G
c.*5222A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 5222 chr17 513906
chr17:513942 C
C
 G
G
 41 a0001c0001t0015
a0001c0001t0028
a0001c0001t0029
others(38): Show 
a0001c0001t0015
a0001c0001t0028
a0001c0001t0029
a0001c0001t0033
a0001c0001t0087
a0001c0001t0088
a0001c0001t0094
a0001c0001t0095
a0001c0001t0096
a0001c0001t0097
a0001c0001t0105
a0001c0001t0111
a0001c0001t0112
a0001c0001t0127
a0001c0002t0005
a0001c0002t0007
a0001c0002t0022
a0001c0002t0048
a0001c0002t0049
a0001c0002t0050
a0001c0002t0058
a0001c0002t0078
a0001c0002t0086
a0001c0011t0051
a0001c0014t0135
a0001c0016t0052
a0002c0003t0008
a0002c0003t0009
a0002c0003t0027
a0002c0003t0085
a0002c0003t0090
a0002c0003t0091
a0002c0003t0092
a0002c0003t0093
a0002c0003t0104
a0002c0003t0150
a0003c0004t0005
a0003c0004t0022
a0003c0004t0054
a0003c0004t0056
a0003c0004t0060
 59 HG00423.hp2
HG01074.hp2
HG01099.hp1
others(56): Show 
HG00423.hp2
HG01074.hp2
HG01099.hp1
HG01109.hp2
HG01167.hp1
HG01168.hp2
HG01884.hp1
HG01891.hp1
HG01928.hp1
HG01981.hp1
HG02040.hp1
HG02056.hp1
HG02083.hp1
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02280.hp1
HG02293.hp1
HG02300.hp1
HG02572.hp1
HG02622.hp1
HG02622.hp2
HG02723.hp2
HG02818.hp1
HG02886.hp2
HG02895.hp2
HG02922.hp2
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03491.hp2
HG03516.hp2
HG03831.hp2
NA18612.hp1
NA18940.hp1
NA18945.hp1
NA18948.hp2
NA18950.hp1
NA18959.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp2
NA18979.hp1
NA18987.hp1
NA19000.hp1
NA19007.hp1
NA19010.hp1
NA19060.hp1
NA19060.hp2
NA19065.hp1
NA19074.hp1
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19084.hp2
NA19087.hp2
NA19090.hp1
NA20129.hp1
NA20300.hp2
 3_prime_UTR_variant MODIFIER c.*5186G>C
c.*5186G>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 5186 chr17 513942
chr17:513952 C
C
 T
T
 2 a0001c0002t0078
a0001c0014t0135
a0001c0002t0078
a0001c0014t0135
 2 HG02572.hp1
HG03516.hp2
HG02572.hp1
HG03516.hp2
 3_prime_UTR_variant MODIFIER c.*5176G>A
c.*5176G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 5176 chr17 513952
chr17:513988 C
C
 CGAAGGAA
others(85): Show 
CGAAGGAATCTCATTTCCAGCAGGTTATTCCGAGTGCTCTTCCTAGCGAA
GGAATCCCATTTCCAGCAGGTTATTCCGAGTGCTCTTCCTAGG
 3 a0001c0001t0123
a0004c0008t0124
a0004c0008t0142
a0001c0001t0123
a0004c0008t0124
a0004c0008t0142
 3 NA18990.hp2
NA19066.hp1
NA19081.hp2
NA18990.hp2
NA19066.hp1
NA19081.hp2
 3_prime_UTR_variant MODIFIER c.*5048_*5139dupCCTA
others(88): Show 
c.*5048_*5139dupCCTAGGAAGAGCACTCGGAATAACCTGCTGGAAA
TGGGATTCCTTCGCTAGGAAGAGCACTCGGAATAACCTGCTGGAAATGAG
ATTCCTTC
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 5139 chr17 513988
chr17:513988 C
C
 G
G
 2 a0001c0002t0078
a0001c0014t0135
a0001c0002t0078
a0001c0014t0135
 2 HG02572.hp1
HG03516.hp2
HG02572.hp1
HG03516.hp2
 3_prime_UTR_variant MODIFIER c.*5140G>C
c.*5140G>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 5140 chr17 513988
chr17:513998 T
T
 C
C
 44 a0001c0001t0015
a0001c0001t0028
a0001c0001t0029
others(41): Show 
a0001c0001t0015
a0001c0001t0028
a0001c0001t0029
a0001c0001t0033
a0001c0001t0087
a0001c0001t0088
a0001c0001t0094
a0001c0001t0095
a0001c0001t0096
a0001c0001t0097
a0001c0001t0105
a0001c0001t0111
a0001c0001t0112
a0001c0001t0127
a0001c0002t0005
a0001c0002t0007
a0001c0002t0010
a0001c0002t0043
a0001c0002t0048
a0001c0002t0049
a0001c0002t0050
a0001c0002t0058
a0001c0002t0078
a0001c0002t0086
a0001c0005t0019
a0001c0005t0020
a0001c0005t0042
a0001c0005t0045
a0001c0011t0051
a0001c0014t0135
a0001c0016t0052
a0002c0003t0008
a0002c0003t0009
a0002c0003t0027
a0002c0003t0085
a0002c0003t0089
a0002c0003t0090
a0002c0003t0091
a0002c0003t0092
a0002c0003t0093
a0002c0003t0104
a0002c0003t0150
a0003c0004t0005
a0003c0004t0047
 62 HG00423.hp2
HG01074.hp2
HG01099.hp1
others(59): Show 
HG00423.hp2
HG01074.hp2
HG01099.hp1
HG01109.hp2
HG01167.hp1
HG01168.hp2
HG01884.hp1
HG01891.hp1
HG01928.hp1
HG01981.hp1
HG02040.hp1
HG02056.hp1
HG02074.hp2
HG02083.hp1
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02280.hp1
HG02293.hp1
HG02300.hp1
HG02572.hp1
HG02622.hp1
HG02622.hp2
HG02723.hp2
HG02818.hp1
HG02886.hp2
HG02895.hp2
HG02922.hp2
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03491.hp2
HG03516.hp2
NA18612.hp1
NA18944.hp1
NA18945.hp1
NA18948.hp2
NA18950.hp1
NA18959.hp2
NA18961.hp1
NA18962.hp2
NA18979.hp1
NA18987.hp1
NA18994.hp1
NA19000.hp1
NA19000.hp2
NA19007.hp1
NA19010.hp1
NA19010.hp2
NA19060.hp1
NA19060.hp2
NA19065.hp1
NA19074.hp1
NA19080.hp2
NA19081.hp1
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19090.hp1
NA20129.hp1
NA20300.hp2
 3_prime_UTR_variant MODIFIER c.*5130A>G
c.*5130A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 5130 chr17 513998
chr17:514034 C
C
 G
G
 43 a0001c0001t0015
a0001c0001t0028
a0001c0001t0029
others(40): Show 
a0001c0001t0015
a0001c0001t0028
a0001c0001t0029
a0001c0001t0033
a0001c0001t0087
a0001c0001t0088
a0001c0001t0094
a0001c0001t0095
a0001c0001t0096
a0001c0001t0097
a0001c0001t0105
a0001c0001t0111
a0001c0001t0112
a0001c0001t0127
a0001c0002t0005
a0001c0002t0007
a0001c0002t0010
a0001c0002t0043
a0001c0002t0048
a0001c0002t0049
a0001c0002t0050
a0001c0002t0058
a0001c0002t0086
a0001c0005t0010
a0001c0005t0019
a0001c0005t0020
a0001c0005t0042
a0001c0005t0044
a0001c0005t0045
a0001c0005t0046
a0002c0003t0008
a0002c0003t0009
a0002c0003t0027
a0002c0003t0085
a0002c0003t0089
a0002c0003t0090
a0002c0003t0091
a0002c0003t0092
a0002c0003t0093
a0002c0003t0104
a0002c0003t0150
a0003c0004t0005
a0003c0004t0047
 64 HG00423.hp2
HG01099.hp1
HG01109.hp2
others(61): Show 
HG00423.hp2
HG01099.hp1
HG01109.hp2
HG01167.hp1
HG01884.hp1
HG01891.hp1
HG01928.hp1
HG01981.hp1
HG02040.hp1
HG02056.hp1
HG02074.hp2
HG02083.hp1
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02280.hp1
HG02293.hp1
HG02300.hp1
HG02602.hp1
HG02622.hp1
HG02622.hp2
HG02723.hp2
HG02818.hp1
HG02886.hp2
HG02895.hp2
HG02922.hp2
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03491.hp2
NA18612.hp1
NA18747.hp1
NA18944.hp1
NA18945.hp1
NA18948.hp2
NA18950.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp1
NA18962.hp2
NA18979.hp1
NA18987.hp1
NA18994.hp1
NA18994.hp2
NA19000.hp1
NA19000.hp2
NA19007.hp1
NA19009.hp1
NA19010.hp1
NA19010.hp2
NA19060.hp1
NA19060.hp2
NA19065.hp1
NA19074.hp1
NA19080.hp2
NA19081.hp1
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19090.hp1
NA19091.hp1
NA20129.hp1
NA20300.hp2
 3_prime_UTR_variant MODIFIER c.*5094G>C
c.*5094G>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 5094 chr17 514034
chr17:514042 T
T
 C
C
 8 a0001c0002t0010
a0001c0002t0043
a0001c0005t0019
others(5): Show 
a0001c0002t0010
a0001c0002t0043
a0001c0005t0019
a0001c0005t0020
a0001c0005t0042
a0001c0005t0045
a0002c0003t0089
a0003c0004t0047
 8 HG02074.hp2
HG02135.hp2
NA18944.hp1
others(5): Show 
HG02074.hp2
HG02135.hp2
NA18944.hp1
NA18994.hp1
NA19000.hp2
NA19010.hp2
NA19084.hp1
NA19087.hp1
 3_prime_UTR_variant MODIFIER c.*5086A>G
c.*5086A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 5086 chr17 514042
chr17:514044 C
C
 T
T
 36 a0001c0001t0015
a0001c0001t0028
a0001c0001t0029
others(33): Show 
a0001c0001t0015
a0001c0001t0028
a0001c0001t0029
a0001c0001t0033
a0001c0001t0087
a0001c0001t0088
a0001c0001t0095
a0001c0001t0096
a0001c0001t0097
a0001c0001t0105
a0001c0001t0111
a0001c0001t0112
a0001c0001t0127
a0001c0002t0005
a0001c0002t0007
a0001c0002t0010
a0001c0002t0048
a0001c0002t0050
a0001c0002t0058
a0001c0002t0086
a0001c0005t0010
a0001c0005t0019
a0001c0005t0020
a0001c0005t0044
a0001c0005t0046
a0002c0003t0008
a0002c0003t0009
a0002c0003t0027
a0002c0003t0085
a0002c0003t0090
a0002c0003t0091
a0002c0003t0092
a0002c0003t0093
a0002c0003t0104
a0002c0003t0150
a0003c0004t0005
 54 HG00423.hp2
HG01099.hp1
HG01109.hp2
others(51): Show 
HG00423.hp2
HG01099.hp1
HG01109.hp2
HG01167.hp1
HG01884.hp1
HG01891.hp1
HG01928.hp1
HG01981.hp1
HG02040.hp1
HG02056.hp1
HG02083.hp1
HG02135.hp1
HG02145.hp1
HG02280.hp1
HG02293.hp1
HG02300.hp1
HG02602.hp1
HG02622.hp1
HG02622.hp2
HG02723.hp2
HG02818.hp1
HG02886.hp2
HG02895.hp2
HG02922.hp2
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03491.hp2
NA18612.hp1
NA18747.hp1
NA18945.hp1
NA18948.hp2
NA18959.hp2
NA18960.hp2
NA18961.hp1
NA18962.hp2
NA18979.hp1
NA18987.hp1
NA18994.hp2
NA19000.hp1
NA19007.hp1
NA19009.hp1
NA19010.hp1
NA19060.hp1
NA19060.hp2
NA19065.hp1
NA19074.hp1
NA19080.hp2
NA19081.hp1
NA19084.hp2
NA19090.hp1
NA19091.hp1
NA20129.hp1
NA20300.hp2
 3_prime_UTR_variant MODIFIER c.*5084G>A
c.*5084G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 5084 chr17 514044
chr17:514081 G
G
 T
T
 8 a0001c0002t0010
a0001c0002t0043
a0001c0005t0019
others(5): Show 
a0001c0002t0010
a0001c0002t0043
a0001c0005t0019
a0001c0005t0020
a0001c0005t0042
a0001c0005t0045
a0002c0003t0089
a0003c0004t0047
 8 HG02074.hp2
HG02135.hp2
NA18944.hp1
others(5): Show 
HG02074.hp2
HG02135.hp2
NA18944.hp1
NA18994.hp1
NA19000.hp2
NA19010.hp2
NA19084.hp1
NA19087.hp1
 3_prime_UTR_variant MODIFIER c.*5047C>A
c.*5047C>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 5047 chr17 514081
chr17:514088 T
T
 C
C
 2 a0001c0011t0051
a0001c0016t0052
a0001c0011t0051
a0001c0016t0052
 2 HG01074.hp2
HG01168.hp2
HG01074.hp2
HG01168.hp2
 3_prime_UTR_variant MODIFIER c.*5040A>G
c.*5040A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 5040 chr17 514088
chr17:514090 T
T
 C
C
 45 a0001c0001t0015
a0001c0001t0028
a0001c0001t0029
others(42): Show 
a0001c0001t0015
a0001c0001t0028
a0001c0001t0029
a0001c0001t0033
a0001c0001t0087
a0001c0001t0088
a0001c0001t0094
a0001c0001t0095
a0001c0001t0096
a0001c0001t0097
a0001c0001t0105
a0001c0001t0111
a0001c0001t0112
a0001c0001t0127
a0001c0002t0005
a0001c0002t0007
a0001c0002t0010
a0001c0002t0043
a0001c0002t0048
a0001c0002t0049
a0001c0002t0050
a0001c0002t0058
a0001c0002t0086
a0001c0005t0010
a0001c0005t0019
a0001c0005t0020
a0001c0005t0042
a0001c0005t0044
a0001c0005t0045
a0001c0005t0046
a0001c0011t0051
a0001c0016t0052
a0002c0003t0008
a0002c0003t0009
a0002c0003t0027
a0002c0003t0085
a0002c0003t0089
a0002c0003t0090
a0002c0003t0091
a0002c0003t0092
a0002c0003t0093
a0002c0003t0104
a0002c0003t0150
a0003c0004t0005
a0003c0004t0047
 66 HG00423.hp2
HG01074.hp2
HG01099.hp1
others(63): Show 
HG00423.hp2
HG01074.hp2
HG01099.hp1
HG01109.hp2
HG01167.hp1
HG01168.hp2
HG01884.hp1
HG01891.hp1
HG01928.hp1
HG01981.hp1
HG02040.hp1
HG02056.hp1
HG02074.hp2
HG02083.hp1
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02280.hp1
HG02293.hp1
HG02300.hp1
HG02602.hp1
HG02622.hp1
HG02622.hp2
HG02723.hp2
HG02818.hp1
HG02886.hp2
HG02895.hp2
HG02922.hp2
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03491.hp2
NA18612.hp1
NA18747.hp1
NA18944.hp1
NA18945.hp1
NA18948.hp2
NA18950.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp1
NA18962.hp2
NA18979.hp1
NA18987.hp1
NA18994.hp1
NA18994.hp2
NA19000.hp1
NA19000.hp2
NA19007.hp1
NA19009.hp1
NA19010.hp1
NA19010.hp2
NA19060.hp1
NA19060.hp2
NA19065.hp1
NA19074.hp1
NA19080.hp2
NA19081.hp1
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19090.hp1
NA19091.hp1
NA20129.hp1
NA20300.hp2
 3_prime_UTR_variant MODIFIER c.*5038A>G
c.*5038A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 5038 chr17 514090
chr17:514090 TCATTTCC
others(39): Show 
TCATTTCCAGCAGGTTATTCCGAGTGCTCTTCCTAGCGAAGGAATCC
 T
T
 2 a0001c0002t0078
a0001c0014t0135
a0001c0002t0078
a0001c0014t0135
 2 HG02572.hp1
HG03516.hp2
HG02572.hp1
HG03516.hp2
 3_prime_UTR_variant MODIFIER c.*4992_*5037delGGAT
others(42): Show 
c.*4992_*5037delGGATTCCTTCGCTAGGAAGAGCACTCGGAATAAC
CTGCTGGAAATG
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 4992 chr17 514090
chr17:514126 C
C
 G
G
 10 a0001c0002t0010
a0001c0002t0043
a0001c0005t0019
others(7): Show 
a0001c0002t0010
a0001c0002t0043
a0001c0005t0019
a0001c0005t0020
a0001c0005t0042
a0001c0005t0045
a0001c0011t0051
a0001c0016t0052
a0002c0003t0089
a0003c0004t0047
 10 HG01074.hp2
HG01168.hp2
HG02074.hp2
others(7): Show 
HG01074.hp2
HG01168.hp2
HG02074.hp2
HG02135.hp2
NA18944.hp1
NA18994.hp1
NA19000.hp2
NA19010.hp2
NA19084.hp1
NA19087.hp1
 3_prime_UTR_variant MODIFIER c.*5002G>C
c.*5002G>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 5002 chr17 514126
chr17:514127 G
G
 T
T
 10 a0001c0002t0010
a0001c0002t0043
a0001c0005t0019
others(7): Show 
a0001c0002t0010
a0001c0002t0043
a0001c0005t0019
a0001c0005t0020
a0001c0005t0042
a0001c0005t0045
a0001c0011t0051
a0001c0016t0052
a0002c0003t0089
a0003c0004t0047
 10 HG01074.hp2
HG01168.hp2
HG02074.hp2
others(7): Show 
HG01074.hp2
HG01168.hp2
HG02074.hp2
HG02135.hp2
NA18944.hp1
NA18994.hp1
NA19000.hp2
NA19010.hp2
NA19084.hp1
NA19087.hp1
 3_prime_UTR_variant MODIFIER c.*5001C>A
c.*5001C>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 5001 chr17 514127
chr17:514156 C
C
 T
T
 9 a0001c0001t0114
a0001c0002t0010
a0001c0002t0043
others(6): Show 
a0001c0001t0114
a0001c0002t0010
a0001c0002t0043
a0001c0005t0019
a0001c0005t0020
a0001c0005t0042
a0001c0005t0045
a0002c0003t0089
a0003c0004t0047
 9 HG02074.hp2
HG02135.hp2
HG02602.hp2
others(6): Show 
HG02074.hp2
HG02135.hp2
HG02602.hp2
NA18944.hp1
NA18994.hp1
NA19000.hp2
NA19010.hp2
NA19084.hp1
NA19087.hp1
 3_prime_UTR_variant MODIFIER c.*4972G>A
c.*4972G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 4972 chr17 514156
chr17:514172 C
C
 G
G
 4 a0001c0002t0078
a0001c0011t0051
a0001c0014t0135
others(1): Show 
a0001c0002t0078
a0001c0011t0051
a0001c0014t0135
a0001c0016t0052
 4 HG01074.hp2
HG01168.hp2
HG02572.hp1
others(1): Show 
HG01074.hp2
HG01168.hp2
HG02572.hp1
HG03516.hp2
 3_prime_UTR_variant MODIFIER c.*4956G>C
c.*4956G>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 4956 chr17 514172
chr17:514172 C
C
 T
T
 1 a0001c0015t0126
a0001c0015t0126
 1 HG02723.hp1
HG02723.hp1
 3_prime_UTR_variant MODIFIER c.*4956G>A
c.*4956G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 4956 chr17 514172
chr17:514173 G
G
 C
C
 8 a0001c0002t0010
a0001c0002t0043
a0001c0005t0019
others(5): Show 
a0001c0002t0010
a0001c0002t0043
a0001c0005t0019
a0001c0005t0020
a0001c0005t0042
a0001c0005t0045
a0002c0003t0089
a0003c0004t0047
 8 HG02074.hp2
HG02135.hp2
NA18944.hp1
others(5): Show 
HG02074.hp2
HG02135.hp2
NA18944.hp1
NA18994.hp1
NA19000.hp2
NA19010.hp2
NA19084.hp1
NA19087.hp1
 3_prime_UTR_variant MODIFIER c.*4955C>G
c.*4955C>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 4955 chr17 514173
chr17:514173 G
G
 T
T
 2 a0001c0011t0051
a0001c0016t0052
a0001c0011t0051
a0001c0016t0052
 2 HG01074.hp2
HG01168.hp2
HG01074.hp2
HG01168.hp2
 3_prime_UTR_variant MODIFIER c.*4955C>A
c.*4955C>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 4955 chr17 514173
chr17:514180 TCCCATTT
others(131): Show 
TCCCATTTCCAGCAGGTTATTCCGAGTGCTCTTCCTAGCGAAGGAACCCC
ATTTCCAGCAGGTTATTCCGAGTGCTCTTCCTAGGGAAGGAACCCCATTT
CCAGCAGGTTATTCCGAGTGCTCTTCCTAGGGAAGGAAC
 T
T
 8 a0001c0002t0010
a0001c0002t0043
a0001c0005t0019
others(5): Show 
a0001c0002t0010
a0001c0002t0043
a0001c0005t0019
a0001c0005t0020
a0001c0005t0042
a0001c0005t0045
a0002c0003t0089
a0003c0004t0047
 8 HG02074.hp2
HG02135.hp2
NA18944.hp1
others(5): Show 
HG02074.hp2
HG02135.hp2
NA18944.hp1
NA18994.hp1
NA19000.hp2
NA19010.hp2
NA19084.hp1
NA19087.hp1
 3_prime_UTR_variant MODIFIER c.*4810_*4947del
c.*4810_*4947del
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 4810 chr17 514180
chr17:514202 C
C
 T
T
 2 a0001c0011t0051
a0001c0016t0052
a0001c0011t0051
a0001c0016t0052
 2 HG01074.hp2
HG01168.hp2
HG01074.hp2
HG01168.hp2
 3_prime_UTR_variant MODIFIER c.*4926G>A
c.*4926G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 4926 chr17 514202
chr17:514218 C
C
 G
G
 40 a0001c0001t0015
a0001c0001t0028
a0001c0001t0029
others(37): Show 
a0001c0001t0015
a0001c0001t0028
a0001c0001t0029
a0001c0001t0033
a0001c0001t0087
a0001c0001t0088
a0001c0001t0094
a0001c0001t0095
a0001c0001t0096
a0001c0001t0097
a0001c0001t0105
a0001c0001t0111
a0001c0001t0112
a0001c0001t0127
a0001c0002t0005
a0001c0002t0007
a0001c0002t0010
a0001c0002t0048
a0001c0002t0049
a0001c0002t0050
a0001c0002t0058
a0001c0002t0078
a0001c0002t0086
a0001c0005t0010
a0001c0005t0019
a0001c0005t0020
a0001c0005t0044
a0001c0005t0046
a0001c0014t0135
a0002c0003t0008
a0002c0003t0009
a0002c0003t0027
a0002c0003t0085
a0002c0003t0090
a0002c0003t0091
a0002c0003t0092
a0002c0003t0093
a0002c0003t0104
a0002c0003t0150
a0003c0004t0005
 58 HG00423.hp2
HG01099.hp1
HG01109.hp2
others(55): Show 
HG00423.hp2
HG01099.hp1
HG01109.hp2
HG01167.hp1
HG01884.hp1
HG01891.hp1
HG01928.hp1
HG01981.hp1
HG02040.hp1
HG02056.hp1
HG02083.hp1
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02280.hp1
HG02293.hp1
HG02300.hp1
HG02572.hp1
HG02602.hp1
HG02622.hp1
HG02622.hp2
HG02723.hp2
HG02818.hp1
HG02886.hp2
HG02895.hp2
HG02922.hp2
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03491.hp2
HG03516.hp2
NA18612.hp1
NA18747.hp1
NA18945.hp1
NA18948.hp2
NA18950.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp1
NA18962.hp2
NA18979.hp1
NA18987.hp1
NA18994.hp2
NA19000.hp1
NA19007.hp1
NA19009.hp1
NA19010.hp1
NA19060.hp1
NA19060.hp2
NA19065.hp1
NA19074.hp1
NA19080.hp2
NA19081.hp1
NA19084.hp2
NA19090.hp1
NA19091.hp1
NA20129.hp1
NA20300.hp2
 3_prime_UTR_variant MODIFIER c.*4910G>C
c.*4910G>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 4910 chr17 514218
chr17:514218 CGAAGGAA
others(85): Show 
CGAAGGAACCCCATTTCCAGCAGGTTATTCCGAGTGCTCTTCCTAGGGAA
GGAACCCCATTTCCAGCAGGTTATTCCGAGTGCTCTTCCTAGG
 C
C
 1 a0001c0011t0051
a0001c0011t0051
 1 HG01074.hp2
HG01074.hp2
 3_prime_UTR_variant MODIFIER c.*4818_*4909delCCTA
others(88): Show 
c.*4818_*4909delCCTAGGAAGAGCACTCGGAATAACCTGCTGGAAA
TGGGGTTCCTTCCCTAGGAAGAGCACTCGGAATAACCTGCTGGAAATGGG
GTTCCTTC
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 4818 chr17 514218
chr17:514218 CGAAGGAA
others(131): Show 
CGAAGGAACCCCATTTCCAGCAGGTTATTCCGAGTGCTCTTCCTAGGGAA
GGAACCCCATTTCCAGCAGGTTATTCCGAGTGCTCTTCCTAGGGAAGGAA
CCCCATTTCCAGCAGGTTATTCCGAGTGCTCTTCCTAGG
 C
C
 1 a0001c0016t0052
a0001c0016t0052
 1 HG01168.hp2
HG01168.hp2
 3_prime_UTR_variant MODIFIER c.*4772_*4909del
c.*4772_*4909del
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 4772 chr17 514218
chr17:514226 C
C
 T
T
 71 a0001c0001t0002
a0001c0001t0011
a0001c0001t0016
others(68): Show 
a0001c0001t0002
a0001c0001t0011
a0001c0001t0016
a0001c0001t0030
a0001c0001t0031
a0001c0001t0032
a0001c0001t0034
a0001c0001t0069
a0001c0001t0084
a0001c0001t0101
a0001c0001t0102
a0001c0001t0106
a0001c0001t0107
a0001c0001t0110
a0001c0001t0113
a0001c0001t0114
a0001c0001t0115
a0001c0001t0116
a0001c0001t0117
a0001c0001t0119
a0001c0001t0120
a0001c0001t0121
a0001c0001t0122
a0001c0001t0128
a0001c0001t0134
a0001c0001t0138
a0001c0001t0141
a0001c0002t0022
a0001c0002t0055
a0001c0002t0100
a0001c0002t0109
a0001c0006t0021
a0001c0006t0039
a0001c0006t0040
a0001c0006t0041
a0001c0006t0053
a0001c0006t0057
a0001c0007t0011
a0001c0007t0012
a0001c0007t0023
a0001c0007t0062
a0001c0007t0070
a0001c0015t0126
a0002c0003t0018
a0002c0003t0036
a0002c0003t0037
a0002c0003t0099
a0002c0003t0131
a0002c0003t0136
a0002c0003t0139
a0002c0003t0140
a0002c0003t0144
a0002c0003t0145
a0002c0003t0146
a0002c0003t0148
a0003c0004t0004
a0003c0004t0006
a0003c0004t0022
a0003c0004t0054
a0003c0004t0056
a0003c0004t0059
a0003c0004t0060
a0003c0004t0061
a0003c0004t0063
a0004c0008t0036
a0004c0008t0103
a0005c0009t0130
a0005c0009t0137
a0005c0009t0147
a0006c0012t0129
a0007c0013t0132
 102 HG00099.hp1
HG00099.hp2
HG00280.hp2
others(99): Show 
HG00099.hp1
HG00099.hp2
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00438.hp2
HG00621.hp1
HG00741.hp2
HG01070.hp2
HG01071.hp1
HG01081.hp2
HG01106.hp2
HG01109.hp1
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01361.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp2
HG01884.hp2
HG01891.hp2
HG01928.hp2
HG01978.hp2
HG01981.hp2
HG02040.hp2
HG02056.hp2
HG02074.hp1
HG02083.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02572.hp2
HG02602.hp2
HG02723.hp1
HG02738.hp2
HG02895.hp1
HG02922.hp1
HG03139.hp1
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
NA18612.hp2
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18944.hp2
NA18945.hp2
NA18946.hp1
NA18950.hp2
NA18955.hp1
NA18957.hp1
NA18959.hp1
NA18961.hp2
NA18962.hp1
NA18967.hp2
NA18973.hp2
NA18977.hp1
NA18978.hp1
NA18978.hp2
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18986.hp1
NA18986.hp2
NA18987.hp2
NA18990.hp1
NA19009.hp2
NA19011.hp2
NA19064.hp1
NA19065.hp2
NA19066.hp2
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19079.hp2
NA19080.hp1
NA19087.hp2
NA19090.hp2
NA19091.hp2
NA20129.hp2
NA20300.hp1
 3_prime_UTR_variant MODIFIER c.*4902G>A
c.*4902G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 4902 chr17 514226
chr17:514265 G
G
 T
T
 40 a0001c0001t0015
a0001c0001t0028
a0001c0001t0029
others(37): Show 
a0001c0001t0015
a0001c0001t0028
a0001c0001t0029
a0001c0001t0033
a0001c0001t0087
a0001c0001t0088
a0001c0001t0094
a0001c0001t0095
a0001c0001t0096
a0001c0001t0097
a0001c0001t0105
a0001c0001t0111
a0001c0001t0112
a0001c0001t0127
a0001c0002t0005
a0001c0002t0007
a0001c0002t0010
a0001c0002t0048
a0001c0002t0049
a0001c0002t0050
a0001c0002t0058
a0001c0002t0078
a0001c0002t0086
a0001c0005t0010
a0001c0005t0019
a0001c0005t0020
a0001c0005t0044
a0001c0005t0046
a0001c0014t0135
a0002c0003t0008
a0002c0003t0009
a0002c0003t0027
a0002c0003t0085
a0002c0003t0090
a0002c0003t0091
a0002c0003t0092
a0002c0003t0093
a0002c0003t0104
a0002c0003t0150
a0003c0004t0005
 58 HG00423.hp2
HG01099.hp1
HG01109.hp2
others(55): Show 
HG00423.hp2
HG01099.hp1
HG01109.hp2
HG01167.hp1
HG01884.hp1
HG01891.hp1
HG01928.hp1
HG01981.hp1
HG02040.hp1
HG02056.hp1
HG02083.hp1
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02280.hp1
HG02293.hp1
HG02300.hp1
HG02572.hp1
HG02602.hp1
HG02622.hp1
HG02622.hp2
HG02723.hp2
HG02818.hp1
HG02886.hp2
HG02895.hp2
HG02922.hp2
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03491.hp2
HG03516.hp2
NA18612.hp1
NA18747.hp1
NA18945.hp1
NA18948.hp2
NA18950.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp1
NA18962.hp2
NA18979.hp1
NA18987.hp1
NA18994.hp2
NA19000.hp1
NA19007.hp1
NA19009.hp1
NA19010.hp1
NA19060.hp1
NA19060.hp2
NA19065.hp1
NA19074.hp1
NA19080.hp2
NA19081.hp1
NA19084.hp2
NA19090.hp1
NA19091.hp1
NA20129.hp1
NA20300.hp2
 3_prime_UTR_variant MODIFIER c.*4863C>A
c.*4863C>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 4863 chr17 514265
chr17:514272 C
C
 T
T
 40 a0001c0001t0015
a0001c0001t0028
a0001c0001t0029
others(37): Show 
a0001c0001t0015
a0001c0001t0028
a0001c0001t0029
a0001c0001t0033
a0001c0001t0087
a0001c0001t0088
a0001c0001t0094
a0001c0001t0095
a0001c0001t0096
a0001c0001t0097
a0001c0001t0105
a0001c0001t0111
a0001c0001t0112
a0001c0001t0127
a0001c0002t0005
a0001c0002t0007
a0001c0002t0010
a0001c0002t0048
a0001c0002t0049
a0001c0002t0050
a0001c0002t0058
a0001c0002t0078
a0001c0002t0086
a0001c0005t0010
a0001c0005t0019
a0001c0005t0020
a0001c0005t0044
a0001c0005t0046
a0001c0014t0135
a0002c0003t0008
a0002c0003t0009
a0002c0003t0027
a0002c0003t0085
a0002c0003t0090
a0002c0003t0091
a0002c0003t0092
a0002c0003t0093
a0002c0003t0104
a0002c0003t0150
a0003c0004t0005
 58 HG00423.hp2
HG01099.hp1
HG01109.hp2
others(55): Show 
HG00423.hp2
HG01099.hp1
HG01109.hp2
HG01167.hp1
HG01884.hp1
HG01891.hp1
HG01928.hp1
HG01981.hp1
HG02040.hp1
HG02056.hp1
HG02083.hp1
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02280.hp1
HG02293.hp1
HG02300.hp1
HG02572.hp1
HG02602.hp1
HG02622.hp1
HG02622.hp2
HG02723.hp2
HG02818.hp1
HG02886.hp2
HG02895.hp2
HG02922.hp2
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03491.hp2
HG03516.hp2
NA18612.hp1
NA18747.hp1
NA18945.hp1
NA18948.hp2
NA18950.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp1
NA18962.hp2
NA18979.hp1
NA18987.hp1
NA18994.hp2
NA19000.hp1
NA19007.hp1
NA19009.hp1
NA19010.hp1
NA19060.hp1
NA19060.hp2
NA19065.hp1
NA19074.hp1
NA19080.hp2
NA19081.hp1
NA19084.hp2
NA19090.hp1
NA19091.hp1
NA20129.hp1
NA20300.hp2
 3_prime_UTR_variant MODIFIER c.*4856G>A
c.*4856G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 4856 chr17 514272
chr17:514311 G
G
 C
C
 1 a0001c0011t0051
a0001c0011t0051
 1 HG01074.hp2
HG01074.hp2
 3_prime_UTR_variant MODIFIER c.*4817C>G
c.*4817C>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 4817 chr17 514311
chr17:514311 G
G
 T
T
 41 a0001c0001t0015
a0001c0001t0028
a0001c0001t0029
others(38): Show 
a0001c0001t0015
a0001c0001t0028
a0001c0001t0029
a0001c0001t0033
a0001c0001t0087
a0001c0001t0088
a0001c0001t0094
a0001c0001t0095
a0001c0001t0096
a0001c0001t0097
a0001c0001t0105
a0001c0001t0111
a0001c0001t0112
a0001c0001t0127
a0001c0002t0005
a0001c0002t0007
a0001c0002t0010
a0001c0002t0048
a0001c0002t0049
a0001c0002t0050
a0001c0002t0058
a0001c0002t0078
a0001c0002t0086
a0001c0005t0010
a0001c0005t0019
a0001c0005t0020
a0001c0005t0044
a0001c0005t0046
a0001c0014t0135
a0002c0003t0008
a0002c0003t0009
a0002c0003t0027
a0002c0003t0085
a0002c0003t0090
a0002c0003t0091
a0002c0003t0092
a0002c0003t0093
a0002c0003t0104
a0002c0003t0150
a0003c0004t0005
a0004c0008t0103
 59 HG00423.hp2
HG01099.hp1
HG01109.hp2
others(56): Show 
HG00423.hp2
HG01099.hp1
HG01109.hp2
HG01167.hp1
HG01884.hp1
HG01891.hp1
HG01928.hp1
HG01981.hp1
HG02040.hp1
HG02056.hp1
HG02083.hp1
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02280.hp1
HG02293.hp1
HG02300.hp1
HG02572.hp1
HG02602.hp1
HG02622.hp1
HG02622.hp2
HG02723.hp2
HG02818.hp1
HG02886.hp2
HG02895.hp2
HG02922.hp2
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03491.hp2
HG03516.hp2
NA18612.hp1
NA18747.hp1
NA18945.hp1
NA18948.hp2
NA18950.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp1
NA18962.hp2
NA18973.hp2
NA18979.hp1
NA18987.hp1
NA18994.hp2
NA19000.hp1
NA19007.hp1
NA19009.hp1
NA19010.hp1
NA19060.hp1
NA19060.hp2
NA19065.hp1
NA19074.hp1
NA19080.hp2
NA19081.hp1
NA19084.hp2
NA19090.hp1
NA19091.hp1
NA20129.hp1
NA20300.hp2
 3_prime_UTR_variant MODIFIER c.*4817C>A
c.*4817C>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 4817 chr17 514311
chr17:514318 C
C
 CCCCATTT
others(39): Show 
CCCCATTTCCAGCAGGTTATTCCGAGTGCTCTTCCTAGGTAAGGAAT
 1 a0003c0004t0071
a0003c0004t0071
 1 NA18906.hp1
NA18906.hp1
 3_prime_UTR_variant MODIFIER c.*4764_*4809dupATTC
others(42): Show 
c.*4764_*4809dupATTCCTTACCTAGGAAGAGCACTCGGAATAACCT
GCTGGAAATGGG
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 4809 chr17 514318
chr17:514318 C
C
 T
T
 42 a0001c0001t0015
a0001c0001t0028
a0001c0001t0029
others(39): Show 
a0001c0001t0015
a0001c0001t0028
a0001c0001t0029
a0001c0001t0033
a0001c0001t0087
a0001c0001t0088
a0001c0001t0094
a0001c0001t0095
a0001c0001t0096
a0001c0001t0097
a0001c0001t0105
a0001c0001t0111
a0001c0001t0112
a0001c0001t0127
a0001c0002t0005
a0001c0002t0007
a0001c0002t0010
a0001c0002t0048
a0001c0002t0049
a0001c0002t0050
a0001c0002t0058
a0001c0002t0078
a0001c0002t0086
a0001c0005t0010
a0001c0005t0019
a0001c0005t0020
a0001c0005t0044
a0001c0005t0046
a0001c0011t0051
a0001c0014t0135
a0002c0003t0008
a0002c0003t0009
a0002c0003t0027
a0002c0003t0085
a0002c0003t0090
a0002c0003t0091
a0002c0003t0092
a0002c0003t0093
a0002c0003t0104
a0002c0003t0150
a0003c0004t0005
a0004c0008t0103
 60 HG00423.hp2
HG01074.hp2
HG01099.hp1
others(57): Show 
HG00423.hp2
HG01074.hp2
HG01099.hp1
HG01109.hp2
HG01167.hp1
HG01884.hp1
HG01891.hp1
HG01928.hp1
HG01981.hp1
HG02040.hp1
HG02056.hp1
HG02083.hp1
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02280.hp1
HG02293.hp1
HG02300.hp1
HG02572.hp1
HG02602.hp1
HG02622.hp1
HG02622.hp2
HG02723.hp2
HG02818.hp1
HG02886.hp2
HG02895.hp2
HG02922.hp2
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03491.hp2
HG03516.hp2
NA18612.hp1
NA18747.hp1
NA18945.hp1
NA18948.hp2
NA18950.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp1
NA18962.hp2
NA18973.hp2
NA18979.hp1
NA18987.hp1
NA18994.hp2
NA19000.hp1
NA19007.hp1
NA19009.hp1
NA19010.hp1
NA19060.hp1
NA19060.hp2
NA19065.hp1
NA19074.hp1
NA19080.hp2
NA19081.hp1
NA19084.hp2
NA19090.hp1
NA19091.hp1
NA20129.hp1
NA20300.hp2
 3_prime_UTR_variant MODIFIER c.*4810G>A
c.*4810G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 4810 chr17 514318
chr17:514336 A
A
 G
G
 9 a0001c0002t0010
a0001c0002t0043
a0001c0005t0019
others(6): Show 
a0001c0002t0010
a0001c0002t0043
a0001c0005t0019
a0001c0005t0020
a0001c0005t0042
a0001c0005t0045
a0001c0011t0051
a0002c0003t0089
a0003c0004t0047
 9 HG01074.hp2
HG02074.hp2
HG02135.hp2
others(6): Show 
HG01074.hp2
HG02074.hp2
HG02135.hp2
NA18944.hp1
NA18994.hp1
NA19000.hp2
NA19010.hp2
NA19084.hp1
NA19087.hp1
 3_prime_UTR_variant MODIFIER c.*4792T>C
c.*4792T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 4792 chr17 514336
chr17:514340 C
C
 T
T
 12 a0001c0002t0010
a0001c0002t0043
a0001c0005t0010
others(9): Show 
a0001c0002t0010
a0001c0002t0043
a0001c0005t0010
a0001c0005t0019
a0001c0005t0020
a0001c0005t0042
a0001c0005t0044
a0001c0005t0045
a0001c0005t0046
a0001c0011t0051
a0002c0003t0089
a0003c0004t0047
 15 HG01074.hp2
HG02074.hp2
HG02135.hp2
others(12): Show 
HG01074.hp2
HG02074.hp2
HG02135.hp2
HG02602.hp1
NA18747.hp1
NA18944.hp1
NA18960.hp2
NA18994.hp1
NA18994.hp2
NA19000.hp2
NA19009.hp1
NA19010.hp2
NA19084.hp1
NA19087.hp1
NA19091.hp1
 3_prime_UTR_variant MODIFIER c.*4788G>A
c.*4788G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 4788 chr17 514340
chr17:514356 G
G
 C
C
 40 a0001c0001t0015
a0001c0001t0028
a0001c0001t0029
others(37): Show 
a0001c0001t0015
a0001c0001t0028
a0001c0001t0029
a0001c0001t0033
a0001c0001t0087
a0001c0001t0088
a0001c0001t0094
a0001c0001t0095
a0001c0001t0096
a0001c0001t0097
a0001c0001t0105
a0001c0001t0111
a0001c0001t0112
a0001c0001t0127
a0001c0002t0005
a0001c0002t0007
a0001c0002t0010
a0001c0002t0048
a0001c0002t0049
a0001c0002t0050
a0001c0002t0058
a0001c0002t0078
a0001c0002t0086
a0001c0005t0010
a0001c0005t0019
a0001c0005t0020
a0001c0005t0044
a0001c0005t0046
a0001c0014t0135
a0002c0003t0008
a0002c0003t0009
a0002c0003t0027
a0002c0003t0085
a0002c0003t0090
a0002c0003t0091
a0002c0003t0092
a0002c0003t0093
a0002c0003t0104
a0002c0003t0150
a0003c0004t0005
 58 HG00423.hp2
HG01099.hp1
HG01109.hp2
others(55): Show 
HG00423.hp2
HG01099.hp1
HG01109.hp2
HG01167.hp1
HG01884.hp1
HG01891.hp1
HG01928.hp1
HG01981.hp1
HG02040.hp1
HG02056.hp1
HG02083.hp1
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02280.hp1
HG02293.hp1
HG02300.hp1
HG02572.hp1
HG02602.hp1
HG02622.hp1
HG02622.hp2
HG02723.hp2
HG02818.hp1
HG02886.hp2
HG02895.hp2
HG02922.hp2
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03491.hp2
HG03516.hp2
NA18612.hp1
NA18747.hp1
NA18945.hp1
NA18948.hp2
NA18950.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp1
NA18962.hp2
NA18979.hp1
NA18987.hp1
NA18994.hp2
NA19000.hp1
NA19007.hp1
NA19009.hp1
NA19010.hp1
NA19060.hp1
NA19060.hp2
NA19065.hp1
NA19074.hp1
NA19080.hp2
NA19081.hp1
NA19084.hp2
NA19090.hp1
NA19091.hp1
NA20129.hp1
NA20300.hp2
 3_prime_UTR_variant MODIFIER c.*4772C>G
c.*4772C>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 4772 chr17 514356
chr17:514357 T
T
 C
C
 42 a0001c0001t0015
a0001c0001t0028
a0001c0001t0029
others(39): Show 
a0001c0001t0015
a0001c0001t0028
a0001c0001t0029
a0001c0001t0033
a0001c0001t0087
a0001c0001t0088
a0001c0001t0094
a0001c0001t0095
a0001c0001t0096
a0001c0001t0097
a0001c0001t0098
a0001c0001t0105
a0001c0001t0111
a0001c0001t0112
a0001c0001t0127
a0001c0002t0005
a0001c0002t0007
a0001c0002t0010
a0001c0002t0048
a0001c0002t0049
a0001c0002t0050
a0001c0002t0058
a0001c0002t0078
a0001c0002t0086
a0001c0005t0010
a0001c0005t0019
a0001c0005t0020
a0001c0005t0044
a0001c0005t0046
a0001c0014t0135
a0001c0016t0052
a0002c0003t0008
a0002c0003t0009
a0002c0003t0027
a0002c0003t0085
a0002c0003t0090
a0002c0003t0091
a0002c0003t0092
a0002c0003t0093
a0002c0003t0104
a0002c0003t0150
a0003c0004t0005
 60 HG00423.hp2
HG01099.hp1
HG01109.hp2
others(57): Show 
HG00423.hp2
HG01099.hp1
HG01109.hp2
HG01167.hp1
HG01168.hp2
HG01884.hp1
HG01891.hp1
HG01928.hp1
HG01981.hp1
HG02040.hp1
HG02056.hp1
HG02083.hp1
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02280.hp1
HG02293.hp1
HG02300.hp1
HG02572.hp1
HG02602.hp1
HG02622.hp1
HG02622.hp2
HG02723.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp2
HG02922.hp2
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03491.hp2
HG03516.hp2
NA18612.hp1
NA18747.hp1
NA18945.hp1
NA18948.hp2
NA18950.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp1
NA18962.hp2
NA18979.hp1
NA18987.hp1
NA18994.hp2
NA19000.hp1
NA19007.hp1
NA19009.hp1
NA19010.hp1
NA19060.hp1
NA19060.hp2
NA19065.hp1
NA19074.hp1
NA19080.hp2
NA19081.hp1
NA19084.hp2
NA19090.hp1
NA19091.hp1
NA20129.hp1
NA20300.hp2
 3_prime_UTR_variant MODIFIER c.*4771A>G
c.*4771A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 4771 chr17 514357
chr17:514363 A
A
 G
G
 50 a0001c0001t0002
a0001c0001t0011
a0001c0001t0016
others(47): Show 
a0001c0001t0002
a0001c0001t0011
a0001c0001t0016
a0001c0001t0030
a0001c0001t0031
a0001c0001t0032
a0001c0001t0034
a0001c0001t0069
a0001c0001t0084
a0001c0001t0106
a0001c0001t0107
a0001c0001t0110
a0001c0001t0113
a0001c0001t0114
a0001c0001t0115
a0001c0001t0116
a0001c0001t0117
a0001c0001t0119
a0001c0001t0120
a0001c0001t0121
a0001c0001t0122
a0001c0001t0128
a0001c0001t0134
a0001c0001t0138
a0001c0001t0141
a0001c0002t0109
a0001c0006t0041
a0001c0007t0011
a0001c0007t0012
a0001c0007t0023
a0001c0007t0062
a0001c0007t0070
a0001c0015t0126
a0002c0003t0018
a0002c0003t0036
a0002c0003t0037
a0002c0003t0131
a0002c0003t0136
a0002c0003t0139
a0002c0003t0140
a0002c0003t0144
a0002c0003t0145
a0002c0003t0146
a0002c0003t0148
a0004c0008t0036
a0005c0009t0130
a0005c0009t0137
a0005c0009t0147
a0006c0012t0129
a0007c0013t0132
 71 HG00099.hp1
HG00323.hp2
HG00423.hp1
others(68): Show 
HG00099.hp1
HG00323.hp2
HG00423.hp1
HG00621.hp1
HG00741.hp2
HG01070.hp2
HG01071.hp1
HG01081.hp2
HG01106.hp2
HG01109.hp1
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01361.hp2
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp2
HG01891.hp2
HG01928.hp2
HG01978.hp2
HG02040.hp2
HG02056.hp2
HG02083.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02602.hp2
HG02723.hp1
HG02738.hp2
HG02895.hp1
HG02922.hp1
HG03492.hp2
HG03516.hp1
HG03688.hp2
HG03831.hp1
HG03942.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
NA18940.hp2
NA18945.hp2
NA18946.hp1
NA18955.hp1
NA18967.hp2
NA18978.hp2
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18986.hp1
NA18987.hp2
NA19009.hp2
NA19065.hp2
NA19066.hp2
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19079.hp2
NA19090.hp2
NA20129.hp2
NA20300.hp1
 3_prime_UTR_variant MODIFIER c.*4765T>C
c.*4765T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 4765 chr17 514363
chr17:514382 A
A
 G
G
 42 a0001c0001t0015
a0001c0001t0028
a0001c0001t0029
others(39): Show 
a0001c0001t0015
a0001c0001t0028
a0001c0001t0029
a0001c0001t0033
a0001c0001t0087
a0001c0001t0088
a0001c0001t0094
a0001c0001t0095
a0001c0001t0096
a0001c0001t0097
a0001c0001t0098
a0001c0001t0105
a0001c0001t0111
a0001c0001t0112
a0001c0001t0127
a0001c0002t0005
a0001c0002t0007
a0001c0002t0010
a0001c0002t0048
a0001c0002t0049
a0001c0002t0050
a0001c0002t0058
a0001c0002t0078
a0001c0002t0086
a0001c0005t0010
a0001c0005t0019
a0001c0005t0020
a0001c0005t0044
a0001c0005t0046
a0001c0014t0135
a0001c0016t0052
a0002c0003t0008
a0002c0003t0009
a0002c0003t0027
a0002c0003t0085
a0002c0003t0090
a0002c0003t0091
a0002c0003t0092
a0002c0003t0093
a0002c0003t0104
a0002c0003t0150
a0003c0004t0005
 60 HG00423.hp2
HG01099.hp1
HG01109.hp2
others(57): Show 
HG00423.hp2
HG01099.hp1
HG01109.hp2
HG01167.hp1
HG01168.hp2
HG01884.hp1
HG01891.hp1
HG01928.hp1
HG01981.hp1
HG02040.hp1
HG02056.hp1
HG02083.hp1
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02280.hp1
HG02293.hp1
HG02300.hp1
HG02572.hp1
HG02602.hp1
HG02622.hp1
HG02622.hp2
HG02723.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp2
HG02922.hp2
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03491.hp2
HG03516.hp2
NA18612.hp1
NA18747.hp1
NA18945.hp1
NA18948.hp2
NA18950.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp1
NA18962.hp2
NA18979.hp1
NA18987.hp1
NA18994.hp2
NA19000.hp1
NA19007.hp1
NA19009.hp1
NA19010.hp1
NA19060.hp1
NA19060.hp2
NA19065.hp1
NA19074.hp1
NA19080.hp2
NA19081.hp1
NA19084.hp2
NA19090.hp1
NA19091.hp1
NA20129.hp1
NA20300.hp2
 3_prime_UTR_variant MODIFIER c.*4746T>C
c.*4746T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 4746 chr17 514382
chr17:514386 C
C
 T
T
 7 a0001c0002t0010
a0001c0005t0010
a0001c0005t0019
others(4): Show 
a0001c0002t0010
a0001c0005t0010
a0001c0005t0019
a0001c0005t0020
a0001c0005t0044
a0001c0005t0046
a0001c0016t0052
 7 HG01168.hp2
HG02602.hp1
NA18747.hp1
others(4): Show 
HG01168.hp2
HG02602.hp1
NA18747.hp1
NA18960.hp2
NA18994.hp2
NA19009.hp1
NA19091.hp1
 3_prime_UTR_variant MODIFIER c.*4742G>A
c.*4742G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 4742 chr17 514386
chr17:514403 TAAGGAAT
others(39): Show 
TAAGGAATCCCATTTCCAGCAGGTTATTCTGAGTGCTCTTCCTAGCC
 T
T
 9 a0001c0002t0010
a0001c0002t0043
a0001c0005t0019
others(6): Show 
a0001c0002t0010
a0001c0002t0043
a0001c0005t0019
a0001c0005t0020
a0001c0005t0042
a0001c0005t0045
a0001c0011t0051
a0002c0003t0089
a0003c0004t0047
 9 HG01074.hp2
HG02074.hp2
HG02135.hp2
others(6): Show 
HG01074.hp2
HG02074.hp2
HG02135.hp2
NA18944.hp1
NA18994.hp1
NA19000.hp2
NA19010.hp2
NA19084.hp1
NA19087.hp1
 3_prime_UTR_variant MODIFIER c.*4679_*4724delGGCT
others(42): Show 
c.*4679_*4724delGGCTAGGAAGAGCACTCAGAATAACCTGCTGGAA
ATGGGATTCCTT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 4679 chr17 514403
chr17:514409 A
A
 G
G
 15 a0002c0003t0018
a0002c0003t0036
a0002c0003t0037
others(12): Show 
a0002c0003t0018
a0002c0003t0036
a0002c0003t0037
a0002c0003t0131
a0002c0003t0136
a0002c0003t0139
a0002c0003t0140
a0002c0003t0144
a0002c0003t0145
a0002c0003t0146
a0002c0003t0148
a0004c0008t0036
a0005c0009t0130
a0005c0009t0137
a0005c0009t0147
 18 HG00323.hp2
HG00423.hp1
HG00621.hp1
others(15): Show 
HG00323.hp2
HG00423.hp1
HG00621.hp1
HG01070.hp2
HG01071.hp1
HG02129.hp1
HG02132.hp1
HG02738.hp2
HG03831.hp1
HG03942.hp1
HG04199.hp1
NA18946.hp1
NA18955.hp1
NA18979.hp2
NA18983.hp1
NA18986.hp1
NA19066.hp2
NA19090.hp2
 3_prime_UTR_variant MODIFIER c.*4719T>C
c.*4719T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 4719 chr17 514409
chr17:514432 T
T
 C
C
 42 a0001c0001t0015
a0001c0001t0028
a0001c0001t0029
others(39): Show 
a0001c0001t0015
a0001c0001t0028
a0001c0001t0029
a0001c0001t0033
a0001c0001t0087
a0001c0001t0088
a0001c0001t0094
a0001c0001t0095
a0001c0001t0096
a0001c0001t0097
a0001c0001t0098
a0001c0001t0105
a0001c0001t0111
a0001c0001t0112
a0001c0001t0127
a0001c0002t0005
a0001c0002t0007
a0001c0002t0010
a0001c0002t0048
a0001c0002t0049
a0001c0002t0050
a0001c0002t0058
a0001c0002t0078
a0001c0002t0086
a0001c0005t0010
a0001c0005t0019
a0001c0005t0020
a0001c0005t0044
a0001c0005t0046
a0001c0014t0135
a0001c0016t0052
a0002c0003t0008
a0002c0003t0009
a0002c0003t0027
a0002c0003t0085
a0002c0003t0090
a0002c0003t0091
a0002c0003t0092
a0002c0003t0093
a0002c0003t0104
a0002c0003t0150
a0003c0004t0005
 60 HG00423.hp2
HG01099.hp1
HG01109.hp2
others(57): Show 
HG00423.hp2
HG01099.hp1
HG01109.hp2
HG01167.hp1
HG01168.hp2
HG01884.hp1
HG01891.hp1
HG01928.hp1
HG01981.hp1
HG02040.hp1
HG02056.hp1
HG02083.hp1
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02280.hp1
HG02293.hp1
HG02300.hp1
HG02572.hp1
HG02602.hp1
HG02622.hp1
HG02622.hp2
HG02723.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp2
HG02922.hp2
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03491.hp2
HG03516.hp2
NA18612.hp1
NA18747.hp1
NA18945.hp1
NA18948.hp2
NA18950.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp1
NA18962.hp2
NA18979.hp1
NA18987.hp1
NA18994.hp2
NA19000.hp1
NA19007.hp1
NA19009.hp1
NA19010.hp1
NA19060.hp1
NA19060.hp2
NA19065.hp1
NA19074.hp1
NA19080.hp2
NA19081.hp1
NA19084.hp2
NA19090.hp1
NA19091.hp1
NA20129.hp1
NA20300.hp2
 3_prime_UTR_variant MODIFIER c.*4696A>G
c.*4696A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 4696 chr17 514432
chr17:514438 C
C
 T
T
 2 a0001c0002t0078
a0001c0014t0135
a0001c0002t0078
a0001c0014t0135
 2 HG02572.hp1
HG03516.hp2
HG02572.hp1
HG03516.hp2
 3_prime_UTR_variant MODIFIER c.*4690G>A
c.*4690G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 4690 chr17 514438
chr17:514448 C
C
 G
G
 115 a0001c0001t0002
a0001c0001t0011
a0001c0001t0015
others(112): Show 
a0001c0001t0002
a0001c0001t0011
a0001c0001t0015
a0001c0001t0016
a0001c0001t0028
a0001c0001t0029
a0001c0001t0030
a0001c0001t0031
a0001c0001t0032
a0001c0001t0033
a0001c0001t0034
a0001c0001t0069
a0001c0001t0084
a0001c0001t0087
a0001c0001t0088
a0001c0001t0094
a0001c0001t0095
a0001c0001t0096
a0001c0001t0097
a0001c0001t0098
a0001c0001t0101
a0001c0001t0102
a0001c0001t0105
a0001c0001t0106
a0001c0001t0107
a0001c0001t0108
a0001c0001t0110
a0001c0001t0111
a0001c0001t0112
a0001c0001t0113
a0001c0001t0114
a0001c0001t0115
a0001c0001t0116
a0001c0001t0117
a0001c0001t0118
a0001c0001t0119
a0001c0001t0120
a0001c0001t0121
a0001c0001t0122
a0001c0001t0127
a0001c0001t0128
a0001c0001t0134
a0001c0001t0138
a0001c0001t0141
a0001c0002t0005
a0001c0002t0007
a0001c0002t0010
a0001c0002t0022
a0001c0002t0048
a0001c0002t0049
a0001c0002t0050
a0001c0002t0055
a0001c0002t0058
a0001c0002t0078
a0001c0002t0086
a0001c0002t0100
a0001c0002t0109
a0001c0005t0010
a0001c0005t0019
a0001c0005t0020
a0001c0005t0044
a0001c0005t0046
a0001c0006t0021
a0001c0006t0039
a0001c0006t0040
a0001c0006t0041
a0001c0006t0053
a0001c0006t0057
a0001c0007t0011
a0001c0007t0012
a0001c0007t0023
a0001c0007t0062
a0001c0007t0070
a0001c0014t0135
a0001c0015t0126
a0001c0016t0052
a0002c0003t0008
a0002c0003t0009
a0002c0003t0018
a0002c0003t0027
a0002c0003t0036
a0002c0003t0037
a0002c0003t0085
a0002c0003t0090
a0002c0003t0091
a0002c0003t0092
a0002c0003t0093
a0002c0003t0099
a0002c0003t0104
a0002c0003t0131
a0002c0003t0136
a0002c0003t0139
a0002c0003t0140
a0002c0003t0144
a0002c0003t0145
a0002c0003t0146
a0002c0003t0148
a0002c0003t0150
a0003c0004t0004
a0003c0004t0005
a0003c0004t0006
a0003c0004t0022
a0003c0004t0054
a0003c0004t0056
a0003c0004t0059
a0003c0004t0060
a0003c0004t0061
a0003c0004t0063
a0004c0008t0036
a0004c0008t0103
a0005c0009t0130
a0005c0009t0137
a0005c0009t0147
a0006c0012t0129
a0007c0013t0132
 164 HG00099.hp1
HG00099.hp2
HG00280.hp2
others(161): Show 
HG00099.hp1
HG00099.hp2
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp2
HG00621.hp1
HG00741.hp2
HG01070.hp2
HG01071.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01346.hp2
HG01361.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02056.hp1
HG02056.hp2
HG02074.hp1
HG02083.hp1
HG02083.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18955.hp1
NA18957.hp1
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18967.hp2
NA18973.hp2
NA18977.hp1
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18990.hp1
NA18994.hp2
NA19000.hp1
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19011.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19065.hp1
NA19065.hp2
NA19066.hp2
NA19068.hp2
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19084.hp2
NA19087.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
 3_prime_UTR_variant MODIFIER c.*4680G>C
c.*4680G>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 4680 chr17 514448
chr17:514449 C
C
 T
T
 115 a0001c0001t0002
a0001c0001t0011
a0001c0001t0015
others(112): Show 
a0001c0001t0002
a0001c0001t0011
a0001c0001t0015
a0001c0001t0016
a0001c0001t0028
a0001c0001t0029
a0001c0001t0030
a0001c0001t0031
a0001c0001t0032
a0001c0001t0033
a0001c0001t0034
a0001c0001t0069
a0001c0001t0084
a0001c0001t0087
a0001c0001t0088
a0001c0001t0094
a0001c0001t0095
a0001c0001t0096
a0001c0001t0097
a0001c0001t0098
a0001c0001t0101
a0001c0001t0102
a0001c0001t0105
a0001c0001t0106
a0001c0001t0107
a0001c0001t0108
a0001c0001t0110
a0001c0001t0111
a0001c0001t0112
a0001c0001t0113
a0001c0001t0114
a0001c0001t0115
a0001c0001t0116
a0001c0001t0117
a0001c0001t0118
a0001c0001t0119
a0001c0001t0120
a0001c0001t0121
a0001c0001t0122
a0001c0001t0127
a0001c0001t0128
a0001c0001t0134
a0001c0001t0138
a0001c0001t0141
a0001c0002t0005
a0001c0002t0007
a0001c0002t0010
a0001c0002t0022
a0001c0002t0048
a0001c0002t0049
a0001c0002t0050
a0001c0002t0055
a0001c0002t0058
a0001c0002t0078
a0001c0002t0086
a0001c0002t0100
a0001c0002t0109
a0001c0005t0010
a0001c0005t0019
a0001c0005t0020
a0001c0005t0044
a0001c0005t0046
a0001c0006t0021
a0001c0006t0039
a0001c0006t0040
a0001c0006t0041
a0001c0006t0053
a0001c0006t0057
a0001c0007t0011
a0001c0007t0012
a0001c0007t0023
a0001c0007t0062
a0001c0007t0070
a0001c0014t0135
a0001c0015t0126
a0001c0016t0052
a0002c0003t0008
a0002c0003t0009
a0002c0003t0018
a0002c0003t0027
a0002c0003t0036
a0002c0003t0037
a0002c0003t0085
a0002c0003t0090
a0002c0003t0091
a0002c0003t0092
a0002c0003t0093
a0002c0003t0099
a0002c0003t0104
a0002c0003t0131
a0002c0003t0136
a0002c0003t0139
a0002c0003t0140
a0002c0003t0144
a0002c0003t0145
a0002c0003t0146
a0002c0003t0148
a0002c0003t0150
a0003c0004t0004
a0003c0004t0005
a0003c0004t0006
a0003c0004t0022
a0003c0004t0054
a0003c0004t0056
a0003c0004t0059
a0003c0004t0060
a0003c0004t0061
a0003c0004t0063
a0004c0008t0036
a0004c0008t0103
a0005c0009t0130
a0005c0009t0137
a0005c0009t0147
a0006c0012t0129
a0007c0013t0132
 164 HG00099.hp1
HG00099.hp2
HG00280.hp2
others(161): Show 
HG00099.hp1
HG00099.hp2
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp2
HG00621.hp1
HG00741.hp2
HG01070.hp2
HG01071.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01346.hp2
HG01361.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02056.hp1
HG02056.hp2
HG02074.hp1
HG02083.hp1
HG02083.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18955.hp1
NA18957.hp1
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18967.hp2
NA18973.hp2
NA18977.hp1
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18990.hp1
NA18994.hp2
NA19000.hp1
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19011.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19065.hp1
NA19065.hp2
NA19066.hp2
NA19068.hp2
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19084.hp2
NA19087.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
 3_prime_UTR_variant MODIFIER c.*4679G>A
c.*4679G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 4679 chr17 514449
chr17:514483 G
G
 A
A
 2 a0001c0001t0108
a0001c0001t0118
a0001c0001t0108
a0001c0001t0118
 2 HG01192.hp1
HG01346.hp2
HG01192.hp1
HG01346.hp2
 3_prime_UTR_variant MODIFIER c.*4645C>T
c.*4645C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 4645 chr17 514483
chr17:514494 C
C
 G
G
 13 a0001c0002t0010
a0001c0002t0043
a0001c0005t0010
others(10): Show 
a0001c0002t0010
a0001c0002t0043
a0001c0005t0010
a0001c0005t0019
a0001c0005t0020
a0001c0005t0042
a0001c0005t0044
a0001c0005t0045
a0001c0005t0046
a0001c0011t0051
a0001c0016t0052
a0002c0003t0089
a0003c0004t0047
 16 HG01074.hp2
HG01168.hp2
HG02074.hp2
others(13): Show 
HG01074.hp2
HG01168.hp2
HG02074.hp2
HG02135.hp2
HG02602.hp1
NA18747.hp1
NA18944.hp1
NA18960.hp2
NA18994.hp1
NA18994.hp2
NA19000.hp2
NA19009.hp1
NA19010.hp2
NA19084.hp1
NA19087.hp1
NA19091.hp1
 3_prime_UTR_variant MODIFIER c.*4634G>C
c.*4634G>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 4634 chr17 514494
chr17:514495 C
C
 T
T
 13 a0001c0002t0010
a0001c0002t0043
a0001c0005t0010
others(10): Show 
a0001c0002t0010
a0001c0002t0043
a0001c0005t0010
a0001c0005t0019
a0001c0005t0020
a0001c0005t0042
a0001c0005t0044
a0001c0005t0045
a0001c0005t0046
a0001c0011t0051
a0001c0016t0052
a0002c0003t0089
a0003c0004t0047
 16 HG01074.hp2
HG01168.hp2
HG02074.hp2
others(13): Show 
HG01074.hp2
HG01168.hp2
HG02074.hp2
HG02135.hp2
HG02602.hp1
NA18747.hp1
NA18944.hp1
NA18960.hp2
NA18994.hp1
NA18994.hp2
NA19000.hp2
NA19009.hp1
NA19010.hp2
NA19084.hp1
NA19087.hp1
NA19091.hp1
 3_prime_UTR_variant MODIFIER c.*4633G>A
c.*4633G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 4633 chr17 514495
chr17:514570 C
C
 T
T
 13 a0001c0002t0010
a0001c0002t0043
a0001c0005t0010
others(10): Show 
a0001c0002t0010
a0001c0002t0043
a0001c0005t0010
a0001c0005t0019
a0001c0005t0020
a0001c0005t0042
a0001c0005t0044
a0001c0005t0045
a0001c0005t0046
a0001c0011t0051
a0001c0016t0052
a0002c0003t0089
a0003c0004t0047
 16 HG01074.hp2
HG01168.hp2
HG02074.hp2
others(13): Show 
HG01074.hp2
HG01168.hp2
HG02074.hp2
HG02135.hp2
HG02602.hp1
NA18747.hp1
NA18944.hp1
NA18960.hp2
NA18994.hp1
NA18994.hp2
NA19000.hp2
NA19009.hp1
NA19010.hp2
NA19084.hp1
NA19087.hp1
NA19091.hp1
 3_prime_UTR_variant MODIFIER c.*4558G>A
c.*4558G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 4558 chr17 514570
chr17:514647 G
G
 C
C
 2 a0001c0011t0051
a0001c0016t0052
a0001c0011t0051
a0001c0016t0052
 2 HG01074.hp2
HG01168.hp2
HG01074.hp2
HG01168.hp2
 3_prime_UTR_variant MODIFIER c.*4481C>G
c.*4481C>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 4481 chr17 514647
chr17:514655 T
T
 G
G
 35 a0001c0001t0015
a0001c0001t0028
a0001c0001t0029
others(32): Show 
a0001c0001t0015
a0001c0001t0028
a0001c0001t0029
a0001c0001t0033
a0001c0001t0087
a0001c0001t0088
a0001c0001t0094
a0001c0001t0095
a0001c0001t0096
a0001c0001t0097
a0001c0001t0098
a0001c0001t0105
a0001c0001t0111
a0001c0001t0112
a0001c0001t0127
a0001c0002t0005
a0001c0002t0007
a0001c0002t0048
a0001c0002t0049
a0001c0002t0050
a0001c0002t0058
a0001c0002t0078
a0001c0002t0086
a0001c0014t0135
a0002c0003t0008
a0002c0003t0009
a0002c0003t0027
a0002c0003t0085
a0002c0003t0090
a0002c0003t0091
a0002c0003t0092
a0002c0003t0093
a0002c0003t0104
a0002c0003t0150
a0003c0004t0005
 53 HG00423.hp2
HG01099.hp1
HG01109.hp2
others(50): Show 
HG00423.hp2
HG01099.hp1
HG01109.hp2
HG01167.hp1
HG01884.hp1
HG01891.hp1
HG01928.hp1
HG01981.hp1
HG02040.hp1
HG02056.hp1
HG02083.hp1
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02280.hp1
HG02293.hp1
HG02300.hp1
HG02572.hp1
HG02622.hp1
HG02622.hp2
HG02723.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp2
HG02922.hp2
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03491.hp2
HG03516.hp2
NA18612.hp1
NA18945.hp1
NA18948.hp2
NA18950.hp1
NA18959.hp2
NA18961.hp1
NA18962.hp2
NA18979.hp1
NA18987.hp1
NA19000.hp1
NA19007.hp1
NA19010.hp1
NA19060.hp1
NA19060.hp2
NA19065.hp1
NA19074.hp1
NA19080.hp2
NA19081.hp1
NA19084.hp2
NA19090.hp1
NA20129.hp1
NA20300.hp2
 3_prime_UTR_variant MODIFIER c.*4473A>C
c.*4473A>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 4473 chr17 514655
chr17:514785 C
C
 A
A
 2 a0001c0001t0108
a0001c0001t0118
a0001c0001t0108
a0001c0001t0118
 2 HG01192.hp1
HG01346.hp2
HG01192.hp1
HG01346.hp2
 3_prime_UTR_variant MODIFIER c.*4343G>T
c.*4343G>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 4343 chr17 514785
chr17:514845 G
G
 A
A
 5 a0001c0001t0117
a0001c0007t0012
a0001c0007t0023
others(2): Show 
a0001c0001t0117
a0001c0007t0012
a0001c0007t0023
a0001c0007t0062
a0001c0007t0070
 8 HG01081.hp2
HG01175.hp2
HG01192.hp2
others(5): Show 
HG01081.hp2
HG01175.hp2
HG01192.hp2
HG01496.hp2
HG01928.hp2
HG01978.hp2
HG02293.hp2
HG02300.hp2
 3_prime_UTR_variant MODIFIER c.*4283C>T
c.*4283C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 4283 chr17 514845
chr17:514931 G
G
 T
T
 73 a0001c0001t0002
a0001c0001t0011
a0001c0001t0016
others(70): Show 
a0001c0001t0002
a0001c0001t0011
a0001c0001t0016
a0001c0001t0030
a0001c0001t0031
a0001c0001t0032
a0001c0001t0034
a0001c0001t0069
a0001c0001t0084
a0001c0001t0101
a0001c0001t0102
a0001c0001t0106
a0001c0001t0107
a0001c0001t0108
a0001c0001t0110
a0001c0001t0113
a0001c0001t0114
a0001c0001t0115
a0001c0001t0116
a0001c0001t0117
a0001c0001t0118
a0001c0001t0119
a0001c0001t0120
a0001c0001t0121
a0001c0001t0122
a0001c0001t0128
a0001c0001t0134
a0001c0001t0138
a0001c0001t0141
a0001c0002t0022
a0001c0002t0055
a0001c0002t0100
a0001c0002t0109
a0001c0006t0021
a0001c0006t0039
a0001c0006t0040
a0001c0006t0041
a0001c0006t0053
a0001c0006t0057
a0001c0007t0011
a0001c0007t0012
a0001c0007t0023
a0001c0007t0062
a0001c0007t0070
a0001c0015t0126
a0002c0003t0018
a0002c0003t0036
a0002c0003t0037
a0002c0003t0099
a0002c0003t0131
a0002c0003t0136
a0002c0003t0139
a0002c0003t0140
a0002c0003t0144
a0002c0003t0145
a0002c0003t0146
a0002c0003t0148
a0003c0004t0004
a0003c0004t0006
a0003c0004t0022
a0003c0004t0054
a0003c0004t0056
a0003c0004t0059
a0003c0004t0060
a0003c0004t0061
a0003c0004t0063
a0004c0008t0036
a0004c0008t0103
a0005c0009t0130
a0005c0009t0137
a0005c0009t0147
a0006c0012t0129
a0007c0013t0132
 104 HG00099.hp1
HG00099.hp2
HG00280.hp2
others(101): Show 
HG00099.hp1
HG00099.hp2
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00438.hp2
HG00621.hp1
HG00741.hp2
HG01070.hp2
HG01071.hp1
HG01081.hp2
HG01106.hp2
HG01109.hp1
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01346.hp2
HG01361.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp2
HG01884.hp2
HG01891.hp2
HG01928.hp2
HG01978.hp2
HG01981.hp2
HG02040.hp2
HG02056.hp2
HG02074.hp1
HG02083.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02572.hp2
HG02602.hp2
HG02723.hp1
HG02738.hp2
HG02895.hp1
HG02922.hp1
HG03139.hp1
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
NA18612.hp2
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18944.hp2
NA18945.hp2
NA18946.hp1
NA18950.hp2
NA18955.hp1
NA18957.hp1
NA18959.hp1
NA18961.hp2
NA18962.hp1
NA18967.hp2
NA18973.hp2
NA18977.hp1
NA18978.hp1
NA18978.hp2
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18986.hp1
NA18986.hp2
NA18987.hp2
NA18990.hp1
NA19009.hp2
NA19011.hp2
NA19064.hp1
NA19065.hp2
NA19066.hp2
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19079.hp2
NA19080.hp1
NA19087.hp2
NA19090.hp2
NA19091.hp2
NA20129.hp2
NA20300.hp1
 3_prime_UTR_variant MODIFIER c.*4197C>A
c.*4197C>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 4197 chr17 514931
chr17:515050 G
G
 C
C
 2 a0001c0011t0051
a0001c0016t0052
a0001c0011t0051
a0001c0016t0052
 2 HG01074.hp2
HG01168.hp2
HG01074.hp2
HG01168.hp2
 3_prime_UTR_variant MODIFIER c.*4078C>G
c.*4078C>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 4078 chr17 515050
chr17:515268 G
G
 A
A
 1 a0001c0005t0044
a0001c0005t0044
 1 NA18960.hp2
NA18960.hp2
 3_prime_UTR_variant MODIFIER c.*3860C>T
c.*3860C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 3860 chr17 515268
chr17:515300 C
C
 T
T
 1 a0001c0001t0113
a0001c0001t0113
 1 HG00741.hp2
HG00741.hp2
 3_prime_UTR_variant MODIFIER c.*3828G>A
c.*3828G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 3828 chr17 515300
chr17:515397 A
A
 C
C
 35 a0001c0001t0015
a0001c0001t0028
a0001c0001t0029
others(32): Show 
a0001c0001t0015
a0001c0001t0028
a0001c0001t0029
a0001c0001t0033
a0001c0001t0087
a0001c0001t0088
a0001c0001t0094
a0001c0001t0095
a0001c0001t0096
a0001c0001t0097
a0001c0001t0098
a0001c0001t0105
a0001c0001t0111
a0001c0001t0112
a0001c0001t0127
a0001c0002t0005
a0001c0002t0007
a0001c0002t0048
a0001c0002t0049
a0001c0002t0050
a0001c0002t0058
a0001c0002t0078
a0001c0002t0086
a0001c0014t0135
a0002c0003t0008
a0002c0003t0009
a0002c0003t0027
a0002c0003t0085
a0002c0003t0090
a0002c0003t0091
a0002c0003t0092
a0002c0003t0093
a0002c0003t0104
a0002c0003t0150
a0003c0004t0005
 53 HG00423.hp2
HG01099.hp1
HG01109.hp2
others(50): Show 
HG00423.hp2
HG01099.hp1
HG01109.hp2
HG01167.hp1
HG01884.hp1
HG01891.hp1
HG01928.hp1
HG01981.hp1
HG02040.hp1
HG02056.hp1
HG02083.hp1
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02280.hp1
HG02293.hp1
HG02300.hp1
HG02572.hp1
HG02622.hp1
HG02622.hp2
HG02723.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp2
HG02922.hp2
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03491.hp2
HG03516.hp2
NA18612.hp1
NA18945.hp1
NA18948.hp2
NA18950.hp1
NA18959.hp2
NA18961.hp1
NA18962.hp2
NA18979.hp1
NA18987.hp1
NA19000.hp1
NA19007.hp1
NA19010.hp1
NA19060.hp1
NA19060.hp2
NA19065.hp1
NA19074.hp1
NA19080.hp2
NA19081.hp1
NA19084.hp2
NA19090.hp1
NA20129.hp1
NA20300.hp2
 3_prime_UTR_variant MODIFIER c.*3731T>G
c.*3731T>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 3731 chr17 515397
chr17:515475 C
C
 A
A
 29 a0001c0001t0015
a0001c0001t0028
a0001c0001t0029
others(26): Show 
a0001c0001t0015
a0001c0001t0028
a0001c0001t0029
a0001c0001t0087
a0001c0001t0088
a0001c0001t0094
a0001c0001t0095
a0001c0001t0096
a0001c0001t0097
a0001c0001t0098
a0001c0001t0105
a0001c0002t0005
a0001c0002t0007
a0001c0002t0048
a0001c0002t0049
a0001c0002t0050
a0001c0002t0058
a0001c0002t0086
a0002c0003t0008
a0002c0003t0009
a0002c0003t0027
a0002c0003t0085
a0002c0003t0090
a0002c0003t0091
a0002c0003t0092
a0002c0003t0093
a0002c0003t0104
a0002c0003t0150
a0003c0004t0005
 46 HG00423.hp2
HG01099.hp1
HG01109.hp2
others(43): Show 
HG00423.hp2
HG01099.hp1
HG01109.hp2
HG01167.hp1
HG01884.hp1
HG01928.hp1
HG01981.hp1
HG02040.hp1
HG02056.hp1
HG02083.hp1
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02280.hp1
HG02293.hp1
HG02300.hp1
HG02622.hp1
HG02622.hp2
HG02723.hp2
HG02818.hp1
HG02818.hp2
HG02922.hp2
HG03139.hp2
HG03225.hp2
HG03491.hp2
NA18612.hp1
NA18945.hp1
NA18948.hp2
NA18950.hp1
NA18959.hp2
NA18961.hp1
NA18962.hp2
NA18979.hp1
NA18987.hp1
NA19000.hp1
NA19007.hp1
NA19010.hp1
NA19060.hp1
NA19060.hp2
NA19065.hp1
NA19074.hp1
NA19080.hp2
NA19081.hp1
NA19084.hp2
NA19090.hp1
NA20300.hp2
 3_prime_UTR_variant MODIFIER c.*3653G>T
c.*3653G>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 3653 chr17 515475
chr17:515653 C
C
 G
G
 13 a0001c0002t0010
a0001c0002t0043
a0001c0005t0010
others(10): Show 
a0001c0002t0010
a0001c0002t0043
a0001c0005t0010
a0001c0005t0019
a0001c0005t0020
a0001c0005t0042
a0001c0005t0044
a0001c0005t0045
a0001c0005t0046
a0001c0011t0051
a0001c0016t0052
a0002c0003t0089
a0003c0004t0047
 16 HG01074.hp2
HG01168.hp2
HG02074.hp2
others(13): Show 
HG01074.hp2
HG01168.hp2
HG02074.hp2
HG02135.hp2
HG02602.hp1
NA18747.hp1
NA18944.hp1
NA18960.hp2
NA18994.hp1
NA18994.hp2
NA19000.hp2
NA19009.hp1
NA19010.hp2
NA19084.hp1
NA19087.hp1
NA19091.hp1
 3_prime_UTR_variant MODIFIER c.*3475G>C
c.*3475G>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 3475 chr17 515653
chr17:515679 G
G
 A
A
 13 a0001c0002t0022
a0001c0002t0055
a0001c0002t0100
others(10): Show 
a0001c0002t0022
a0001c0002t0055
a0001c0002t0100
a0003c0004t0004
a0003c0004t0006
a0003c0004t0022
a0003c0004t0054
a0003c0004t0056
a0003c0004t0059
a0003c0004t0060
a0003c0004t0061
a0003c0004t0063
a0004c0008t0103
 22 HG02074.hp1
HG03831.hp2
NA18612.hp2
others(19): Show 
HG02074.hp1
HG03831.hp2
NA18612.hp2
NA18906.hp2
NA18940.hp1
NA18944.hp2
NA18950.hp2
NA18957.hp1
NA18959.hp1
NA18961.hp2
NA18962.hp1
NA18973.hp2
NA18977.hp1
NA18978.hp1
NA18984.hp1
NA18986.hp2
NA18990.hp1
NA19011.hp2
NA19064.hp1
NA19080.hp1
NA19087.hp2
NA19091.hp2
 3_prime_UTR_variant MODIFIER c.*3449C>T
c.*3449C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 3449 chr17 515679
chr17:515804 C
C
 CT
CT
 11 a0001c0001t0030
a0001c0001t0101
a0001c0001t0102
others(8): Show 
a0001c0001t0030
a0001c0001t0101
a0001c0001t0102
a0001c0005t0080
a0001c0006t0021
a0001c0006t0039
a0001c0006t0040
a0001c0006t0053
a0001c0006t0057
a0002c0003t0099
a0003c0004t0061
 13 HG00099.hp2
HG00280.hp2
HG00438.hp2
others(10): Show 
HG00099.hp2
HG00280.hp2
HG00438.hp2
HG01515.hp2
HG01884.hp2
HG01981.hp2
HG02280.hp2
HG02572.hp2
HG03139.hp1
HG03491.hp1
HG03492.hp1
NA18955.hp2
NA18978.hp1
 3_prime_UTR_variant MODIFIER c.*3323dupA
c.*3323dupA
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 3323 chr17 515804
chr17:515881 G
G
 A
A
 2 a0003c0004t0056
a0003c0004t0060
a0003c0004t0056
a0003c0004t0060
 2 HG03831.hp2
NA19080.hp1
HG03831.hp2
NA19080.hp1
 3_prime_UTR_variant MODIFIER c.*3247C>T
c.*3247C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 3247 chr17 515881
chr17:515950 T
T
 C
C
 1 a0001c0001t0118
a0001c0001t0118
 1 HG01346.hp2
HG01346.hp2
 3_prime_UTR_variant MODIFIER c.*3178A>G
c.*3178A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 3178 chr17 515950
chr17:515953 C
C
 CTTTT
CTTTT
 3 a0001c0005t0020
a0001c0005t0044
a0001c0016t0052
a0001c0005t0020
a0001c0005t0044
a0001c0016t0052
 4 HG01168.hp2
NA18960.hp2
NA19087.hp1
others(1): Show 
HG01168.hp2
NA18960.hp2
NA19087.hp1
NA19091.hp1
 3_prime_UTR_variant MODIFIER c.*3174_*3175insAAAA
c.*3174_*3175insAAAA
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 3174 chr17 515953
chr17:515953 C
C
 CTTTTT
CTTTTT
 8 a0001c0002t0010
a0001c0002t0043
a0001c0005t0010
others(5): Show 
a0001c0002t0010
a0001c0002t0043
a0001c0005t0010
a0001c0005t0042
a0001c0005t0046
a0001c0011t0051
a0002c0003t0089
a0003c0004t0047
 9 HG01074.hp2
HG02074.hp2
NA18747.hp1
others(6): Show 
HG01074.hp2
HG02074.hp2
NA18747.hp1
NA18944.hp1
NA18994.hp1
NA18994.hp2
NA19000.hp2
NA19009.hp1
NA19084.hp1
 3_prime_UTR_variant MODIFIER c.*3174_*3175insAAAA
others(1): Show 
c.*3174_*3175insAAAAA
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 3174 chr17 515953
chr17:515955 G
G
 T
T
 12 a0001c0002t0010
a0001c0002t0043
a0001c0005t0010
others(9): Show 
a0001c0002t0010
a0001c0002t0043
a0001c0005t0010
a0001c0005t0019
a0001c0005t0020
a0001c0005t0042
a0001c0005t0044
a0001c0005t0046
a0001c0011t0051
a0001c0016t0052
a0002c0003t0089
a0003c0004t0047
 15 HG01074.hp2
HG01168.hp2
HG02074.hp2
others(12): Show 
HG01074.hp2
HG01168.hp2
HG02074.hp2
HG02602.hp1
NA18747.hp1
NA18944.hp1
NA18960.hp2
NA18994.hp1
NA18994.hp2
NA19000.hp2
NA19009.hp1
NA19010.hp2
NA19084.hp1
NA19087.hp1
NA19091.hp1
 3_prime_UTR_variant MODIFIER c.*3173C>A
c.*3173C>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 3173 chr17 515955
chr17:515956 C
C
 CTTTTT
CTTTTT
 6 a0001c0001t0028
a0001c0001t0029
a0001c0001t0087
others(3): Show 
a0001c0001t0028
a0001c0001t0029
a0001c0001t0087
a0001c0001t0097
a0001c0001t0098
a0001c0002t0049
 8 HG02145.hp2
HG02622.hp1
HG02622.hp2
others(5): Show 
HG02145.hp2
HG02622.hp1
HG02622.hp2
HG02723.hp2
HG02818.hp1
HG02818.hp2
HG02922.hp2
HG03139.hp2
 3_prime_UTR_variant MODIFIER c.*3167_*3171dupAAAA
others(1): Show 
c.*3167_*3171dupAAAAA
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 3171 chr17 515956
chr17:515956 C
C
 CTTTTTT
CTTTTTT
 16 a0001c0001t0015
a0001c0001t0088
a0001c0001t0094
others(13): Show 
a0001c0001t0015
a0001c0001t0088
a0001c0001t0094
a0001c0001t0096
a0001c0001t0105
a0001c0002t0005
a0001c0002t0007
a0001c0002t0050
a0001c0002t0058
a0001c0002t0086
a0002c0003t0008
a0002c0003t0009
a0002c0003t0085
a0002c0003t0090
a0002c0003t0150
a0003c0004t0005
 30 HG00423.hp2
HG01099.hp1
HG01109.hp2
others(27): Show 
HG00423.hp2
HG01099.hp1
HG01109.hp2
HG01884.hp1
HG01928.hp1
HG01981.hp1
HG02040.hp1
HG02056.hp1
HG02083.hp1
HG02135.hp1
HG02145.hp1
HG02280.hp1
HG02293.hp1
HG03225.hp2
HG03491.hp2
NA18612.hp1
NA18945.hp1
NA18948.hp2
NA18950.hp1
NA18959.hp2
NA18961.hp1
NA18962.hp2
NA18979.hp1
NA19007.hp1
NA19010.hp1
NA19060.hp1
NA19060.hp2
NA19065.hp1
NA19080.hp2
NA19081.hp1
 3_prime_UTR_variant MODIFIER c.*3166_*3171dupAAAA
others(2): Show 
c.*3166_*3171dupAAAAAA
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 3171 chr17 515956
chr17:515956 C
C
 CTTTTTTT
CTTTTTTT
 6 a0001c0001t0095
a0001c0002t0048
a0002c0003t0027
others(3): Show 
a0001c0001t0095
a0001c0002t0048
a0002c0003t0027
a0002c0003t0092
a0002c0003t0093
a0002c0003t0104
 7 HG01167.hp1
NA18987.hp1
NA19000.hp1
others(4): Show 
HG01167.hp1
NA18987.hp1
NA19000.hp1
NA19074.hp1
NA19084.hp2
NA19090.hp1
NA20300.hp2
 3_prime_UTR_variant MODIFIER c.*3165_*3171dupAAAA
others(3): Show 
c.*3165_*3171dupAAAAAAA
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 3171 chr17 515956
chr17:515956 C
C
 T
T
 12 a0001c0002t0010
a0001c0002t0043
a0001c0005t0010
others(9): Show 
a0001c0002t0010
a0001c0002t0043
a0001c0005t0010
a0001c0005t0019
a0001c0005t0020
a0001c0005t0042
a0001c0005t0044
a0001c0005t0046
a0001c0011t0051
a0001c0016t0052
a0002c0003t0089
a0003c0004t0047
 15 HG01074.hp2
HG01168.hp2
HG02074.hp2
others(12): Show 
HG01074.hp2
HG01168.hp2
HG02074.hp2
HG02602.hp1
NA18747.hp1
NA18944.hp1
NA18960.hp2
NA18994.hp1
NA18994.hp2
NA19000.hp2
NA19009.hp1
NA19010.hp2
NA19084.hp1
NA19087.hp1
NA19091.hp1
 3_prime_UTR_variant MODIFIER c.*3172G>A
c.*3172G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 3172 chr17 515956
chr17:515956 CT
CT
 C
C
 63 a0001c0001t0002
a0001c0001t0011
a0001c0001t0016
others(60): Show 
a0001c0001t0002
a0001c0001t0011
a0001c0001t0016
a0001c0001t0030
a0001c0001t0031
a0001c0001t0032
a0001c0001t0033
a0001c0001t0034
a0001c0001t0069
a0001c0001t0084
a0001c0001t0106
a0001c0001t0107
a0001c0001t0110
a0001c0001t0111
a0001c0001t0112
a0001c0001t0113
a0001c0001t0114
a0001c0001t0115
a0001c0001t0116
a0001c0001t0117
a0001c0001t0118
a0001c0001t0119
a0001c0001t0120
a0001c0001t0121
a0001c0001t0122
a0001c0001t0127
a0001c0001t0128
a0001c0001t0134
a0001c0001t0138
a0001c0001t0141
a0001c0002t0022
a0001c0002t0055
a0001c0002t0100
a0001c0002t0109
a0001c0006t0041
a0001c0007t0011
a0001c0007t0012
a0001c0007t0023
a0001c0007t0062
a0001c0007t0070
a0001c0015t0126
a0002c0003t0018
a0002c0003t0036
a0002c0003t0037
a0002c0003t0131
a0002c0003t0140
a0002c0003t0145
a0002c0003t0148
a0003c0004t0004
a0003c0004t0006
a0003c0004t0022
a0003c0004t0054
a0003c0004t0056
a0003c0004t0059
a0003c0004t0060
a0003c0004t0063
a0004c0008t0036
a0004c0008t0103
a0005c0009t0130
a0005c0009t0137
a0005c0009t0147
a0006c0012t0129
a0007c0013t0132
 94 HG00099.hp1
HG00323.hp2
HG00423.hp1
others(91): Show 
HG00099.hp1
HG00323.hp2
HG00423.hp1
HG00621.hp1
HG00741.hp2
HG01070.hp2
HG01071.hp1
HG01081.hp2
HG01106.hp2
HG01109.hp1
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01346.hp2
HG01361.hp2
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp2
HG01978.hp2
HG02040.hp2
HG02056.hp2
HG02074.hp1
HG02083.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02602.hp2
HG02723.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG03225.hp1
HG03492.hp2
HG03516.hp1
HG03688.hp2
HG03831.hp2
HG03942.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
NA18612.hp2
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18944.hp2
NA18945.hp2
NA18946.hp1
NA18950.hp2
NA18955.hp1
NA18957.hp1
NA18959.hp1
NA18961.hp2
NA18962.hp1
NA18967.hp2
NA18973.hp2
NA18977.hp1
NA18978.hp2
NA18979.hp2
NA18983.hp2
NA18984.hp1
NA18986.hp1
NA18986.hp2
NA18987.hp2
NA18990.hp1
NA19009.hp2
NA19011.hp2
NA19064.hp1
NA19065.hp2
NA19066.hp2
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19079.hp2
NA19080.hp1
NA19087.hp2
NA19091.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
 3_prime_UTR_variant MODIFIER c.*3171delA
c.*3171delA
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 3171 chr17 515956
chr17:516095 C
C
 T
T
 23 a0001c0001t0032
a0001c0001t0034
a0001c0001t0122
others(20): Show 
a0001c0001t0032
a0001c0001t0034
a0001c0001t0122
a0001c0001t0138
a0001c0001t0141
a0001c0006t0041
a0001c0015t0126
a0002c0003t0018
a0002c0003t0036
a0002c0003t0037
a0002c0003t0131
a0002c0003t0136
a0002c0003t0139
a0002c0003t0140
a0002c0003t0144
a0002c0003t0145
a0002c0003t0146
a0002c0003t0148
a0004c0008t0036
a0005c0009t0130
a0005c0009t0137
a0005c0009t0147
a0007c0013t0132
 28 HG00323.hp2
HG00423.hp1
HG00621.hp1
others(25): Show 
HG00323.hp2
HG00423.hp1
HG00621.hp1
HG01070.hp2
HG01071.hp1
HG01106.hp2
HG01109.hp1
HG01175.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG02129.hp1
HG02132.hp1
HG02723.hp1
HG02738.hp2
HG02895.hp1
HG02922.hp1
HG03831.hp1
HG03942.hp1
HG04199.hp1
HG04204.hp1
NA18946.hp1
NA18955.hp1
NA18979.hp2
NA18983.hp1
NA18986.hp1
NA19066.hp2
NA19090.hp2
 3_prime_UTR_variant MODIFIER c.*3033G>A
c.*3033G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 3033 chr17 516095
chr17:516234 G
G
 A
A
 2 a0001c0002t0075
a0001c0002t0076
a0001c0002t0075
a0001c0002t0076
 2 NA18973.hp1
NA19070.hp1
NA18973.hp1
NA19070.hp1
 3_prime_UTR_variant MODIFIER c.*2894C>T
c.*2894C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 2894 chr17 516234
chr17:516289 C
C
 T
T
 1 a0002c0003t0092
a0002c0003t0092
 1 NA19084.hp2
NA19084.hp2
 3_prime_UTR_variant MODIFIER c.*2839G>A
c.*2839G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 2839 chr17 516289
chr17:516341 C
C
 T
T
 1 a0001c0002t0049
a0001c0002t0049
 1 HG02145.hp2
HG02145.hp2
 3_prime_UTR_variant MODIFIER c.*2787G>A
c.*2787G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 2787 chr17 516341
chr17:516435 C
C
 T
T
 1 a0001c0001t0110
a0001c0001t0110
 1 NA19065.hp2
NA19065.hp2
 3_prime_UTR_variant MODIFIER c.*2693G>A
c.*2693G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 2693 chr17 516435
chr17:516459 C
C
 T
T
 30 a0001c0001t0015
a0001c0001t0028
a0001c0001t0029
others(27): Show 
a0001c0001t0015
a0001c0001t0028
a0001c0001t0029
a0001c0001t0087
a0001c0001t0088
a0001c0001t0094
a0001c0001t0095
a0001c0001t0096
a0001c0001t0097
a0001c0001t0105
a0001c0002t0005
a0001c0002t0007
a0001c0002t0048
a0001c0002t0049
a0001c0002t0050
a0001c0002t0058
a0001c0002t0078
a0001c0002t0086
a0001c0014t0135
a0002c0003t0008
a0002c0003t0009
a0002c0003t0027
a0002c0003t0085
a0002c0003t0090
a0002c0003t0091
a0002c0003t0092
a0002c0003t0093
a0002c0003t0104
a0002c0003t0150
a0003c0004t0005
 47 HG00423.hp2
HG01099.hp1
HG01109.hp2
others(44): Show 
HG00423.hp2
HG01099.hp1
HG01109.hp2
HG01167.hp1
HG01884.hp1
HG01928.hp1
HG01981.hp1
HG02040.hp1
HG02056.hp1
HG02083.hp1
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02280.hp1
HG02293.hp1
HG02300.hp1
HG02572.hp1
HG02622.hp1
HG02622.hp2
HG02723.hp2
HG02818.hp1
HG02922.hp2
HG03139.hp2
HG03225.hp2
HG03491.hp2
HG03516.hp2
NA18612.hp1
NA18945.hp1
NA18948.hp2
NA18950.hp1
NA18959.hp2
NA18961.hp1
NA18962.hp2
NA18979.hp1
NA18987.hp1
NA19000.hp1
NA19007.hp1
NA19010.hp1
NA19060.hp1
NA19060.hp2
NA19065.hp1
NA19074.hp1
NA19080.hp2
NA19081.hp1
NA19084.hp2
NA19090.hp1
NA20300.hp2
 3_prime_UTR_variant MODIFIER c.*2669G>A
c.*2669G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 2669 chr17 516459
chr17:516538 A
A
 AT
AT
 18 a0001c0001t0015
a0001c0001t0094
a0001c0002t0005
others(15): Show 
a0001c0001t0015
a0001c0001t0094
a0001c0002t0005
a0001c0002t0007
a0001c0002t0048
a0001c0002t0058
a0001c0002t0086
a0002c0003t0008
a0002c0003t0009
a0002c0003t0027
a0002c0003t0085
a0002c0003t0090
a0002c0003t0091
a0002c0003t0092
a0002c0003t0093
a0002c0003t0104
a0002c0003t0150
a0003c0004t0005
 33 HG00423.hp2
HG01099.hp1
HG01167.hp1
others(30): Show 
HG00423.hp2
HG01099.hp1
HG01167.hp1
HG01928.hp1
HG01981.hp1
HG02040.hp1
HG02056.hp1
HG02083.hp1
HG02135.hp1
HG02145.hp1
HG02293.hp1
HG02300.hp1
HG03491.hp2
NA18612.hp1
NA18945.hp1
NA18948.hp2
NA18950.hp1
NA18959.hp2
NA18961.hp1
NA18962.hp2
NA18979.hp1
NA18987.hp1
NA19000.hp1
NA19007.hp1
NA19010.hp1
NA19060.hp1
NA19060.hp2
NA19065.hp1
NA19074.hp1
NA19080.hp2
NA19081.hp1
NA19084.hp2
NA19090.hp1
 3_prime_UTR_variant MODIFIER c.*2589dupA
c.*2589dupA
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 2589 chr17 516538
chr17:516662 G
G
 A
A
 2 a0002c0003t0148
a0003c0004t0006
a0002c0003t0148
a0003c0004t0006
 6 NA18950.hp2
NA18959.hp1
NA18962.hp1
others(3): Show 
NA18950.hp2
NA18959.hp1
NA18962.hp1
NA18977.hp1
NA18979.hp2
NA18986.hp2
 3_prime_UTR_variant MODIFIER c.*2466C>T
c.*2466C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 2466 chr17 516662
chr17:516663 G
G
 A
A
 21 a0001c0001t0034
a0001c0001t0122
a0001c0001t0138
others(18): Show 
a0001c0001t0034
a0001c0001t0122
a0001c0001t0138
a0001c0001t0141
a0001c0006t0041
a0002c0003t0018
a0002c0003t0036
a0002c0003t0037
a0002c0003t0131
a0002c0003t0136
a0002c0003t0139
a0002c0003t0140
a0002c0003t0144
a0002c0003t0145
a0002c0003t0146
a0002c0003t0148
a0004c0008t0036
a0005c0009t0130
a0005c0009t0137
a0005c0009t0147
a0007c0013t0132
 25 HG00323.hp2
HG00423.hp1
HG00621.hp1
others(22): Show 
HG00323.hp2
HG00423.hp1
HG00621.hp1
HG01070.hp2
HG01071.hp1
HG01106.hp2
HG01109.hp1
HG01175.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG02129.hp1
HG02132.hp1
HG02738.hp2
HG03831.hp1
HG03942.hp1
HG04199.hp1
HG04204.hp1
NA18946.hp1
NA18955.hp1
NA18979.hp2
NA18983.hp1
NA18986.hp1
NA19066.hp2
NA19090.hp2
 3_prime_UTR_variant MODIFIER c.*2465C>T
c.*2465C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 2465 chr17 516663
chr17:516793 T
T
 C
C
 39 a0001c0001t0015
a0001c0001t0028
a0001c0001t0029
others(36): Show 
a0001c0001t0015
a0001c0001t0028
a0001c0001t0029
a0001c0001t0087
a0001c0001t0088
a0001c0001t0094
a0001c0001t0095
a0001c0001t0096
a0001c0001t0097
a0001c0001t0098
a0001c0001t0105
a0001c0002t0005
a0001c0002t0007
a0001c0002t0010
a0001c0002t0043
a0001c0002t0048
a0001c0002t0049
a0001c0002t0050
a0001c0002t0058
a0001c0002t0078
a0001c0002t0086
a0001c0005t0010
a0001c0005t0019
a0001c0005t0020
a0001c0005t0042
a0001c0005t0044
a0001c0005t0045
a0001c0005t0046
a0001c0011t0051
a0001c0014t0135
a0001c0016t0052
a0002c0003t0009
a0002c0003t0027
a0002c0003t0085
a0002c0003t0089
a0002c0003t0092
a0002c0003t0093
a0003c0004t0005
a0003c0004t0047
 56 HG00423.hp2
HG01074.hp2
HG01109.hp2
others(53): Show 
HG00423.hp2
HG01074.hp2
HG01109.hp2
HG01167.hp1
HG01168.hp2
HG01884.hp1
HG01928.hp1
HG02040.hp1
HG02056.hp1
HG02074.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02280.hp1
HG02572.hp1
HG02602.hp1
HG02622.hp1
HG02622.hp2
HG02723.hp2
HG02818.hp1
HG02818.hp2
HG02922.hp2
HG03139.hp2
HG03225.hp2
HG03491.hp2
HG03516.hp2
NA18747.hp1
NA18944.hp1
NA18945.hp1
NA18948.hp2
NA18950.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp1
NA18962.hp2
NA18979.hp1
NA18994.hp1
NA18994.hp2
NA19000.hp1
NA19000.hp2
NA19007.hp1
NA19009.hp1
NA19010.hp2
NA19060.hp1
NA19060.hp2
NA19065.hp1
NA19074.hp1
NA19080.hp2
NA19081.hp1
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19090.hp1
NA19091.hp1
NA20300.hp2
 3_prime_UTR_variant MODIFIER c.*2335A>G
c.*2335A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 2335 chr17 516793
chr17:516887 G
G
 A
A
 1 a0003c0004t0047
a0003c0004t0047
 1 NA18994.hp1
NA18994.hp1
 3_prime_UTR_variant MODIFIER c.*2241C>T
c.*2241C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 2241 chr17 516887
chr17:516925 T
T
 C
C
 45 a0001c0001t0015
a0001c0001t0028
a0001c0001t0029
others(42): Show 
a0001c0001t0015
a0001c0001t0028
a0001c0001t0029
a0001c0001t0087
a0001c0001t0088
a0001c0001t0094
a0001c0001t0095
a0001c0001t0096
a0001c0001t0097
a0001c0001t0098
a0001c0001t0105
a0001c0002t0005
a0001c0002t0007
a0001c0002t0010
a0001c0002t0043
a0001c0002t0048
a0001c0002t0049
a0001c0002t0050
a0001c0002t0058
a0001c0002t0077
a0001c0002t0078
a0001c0002t0086
a0001c0005t0010
a0001c0005t0019
a0001c0005t0020
a0001c0005t0042
a0001c0005t0044
a0001c0005t0045
a0001c0005t0046
a0001c0011t0051
a0001c0014t0135
a0001c0016t0052
a0002c0003t0008
a0002c0003t0009
a0002c0003t0027
a0002c0003t0085
a0002c0003t0089
a0002c0003t0090
a0002c0003t0091
a0002c0003t0092
a0002c0003t0093
a0002c0003t0104
a0002c0003t0150
a0003c0004t0005
a0003c0004t0047
 65 HG00423.hp2
HG01074.hp2
HG01099.hp1
others(62): Show 
HG00423.hp2
HG01074.hp2
HG01099.hp1
HG01109.hp2
HG01167.hp1
HG01168.hp2
HG01884.hp1
HG01928.hp1
HG01981.hp1
HG02040.hp1
HG02056.hp1
HG02074.hp2
HG02083.hp1
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02280.hp1
HG02293.hp1
HG02300.hp1
HG02572.hp1
HG02602.hp1
HG02622.hp1
HG02622.hp2
HG02723.hp2
HG02818.hp1
HG02818.hp2
HG02922.hp2
HG03139.hp2
HG03225.hp2
HG03491.hp2
HG03516.hp2
NA18612.hp1
NA18747.hp1
NA18944.hp1
NA18945.hp1
NA18948.hp2
NA18950.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp1
NA18962.hp2
NA18979.hp1
NA18987.hp1
NA18994.hp1
NA18994.hp2
NA19000.hp1
NA19000.hp2
NA19007.hp1
NA19009.hp1
NA19010.hp1
NA19010.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp2
NA19065.hp1
NA19074.hp1
NA19080.hp2
NA19081.hp1
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19090.hp1
NA19091.hp1
NA20300.hp2
 3_prime_UTR_variant MODIFIER c.*2203A>G
c.*2203A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 2203 chr17 516925
chr17:517107 G
G
 T
T
 2 a0001c0002t0078
a0001c0014t0135
a0001c0002t0078
a0001c0014t0135
 2 HG02572.hp1
HG03516.hp2
HG02572.hp1
HG03516.hp2
 3_prime_UTR_variant MODIFIER c.*2021C>A
c.*2021C>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 2021 chr17 517107
chr17:517227 T
T
 C
C
 121 a0001c0001t0002
a0001c0001t0011
a0001c0001t0015
others(118): Show 
a0001c0001t0002
a0001c0001t0011
a0001c0001t0015
a0001c0001t0016
a0001c0001t0028
a0001c0001t0029
a0001c0001t0030
a0001c0001t0031
a0001c0001t0032
a0001c0001t0033
a0001c0001t0034
a0001c0001t0069
a0001c0001t0084
a0001c0001t0087
a0001c0001t0088
a0001c0001t0094
a0001c0001t0095
a0001c0001t0096
a0001c0001t0097
a0001c0001t0098
a0001c0001t0101
a0001c0001t0102
a0001c0001t0105
a0001c0001t0106
a0001c0001t0107
a0001c0001t0108
a0001c0001t0110
a0001c0001t0111
a0001c0001t0112
a0001c0001t0113
a0001c0001t0114
a0001c0001t0115
a0001c0001t0116
a0001c0001t0117
a0001c0001t0118
a0001c0001t0119
a0001c0001t0120
a0001c0001t0121
a0001c0001t0122
a0001c0001t0127
a0001c0001t0128
a0001c0001t0134
a0001c0001t0138
a0001c0001t0141
a0001c0002t0005
a0001c0002t0007
a0001c0002t0010
a0001c0002t0022
a0001c0002t0043
a0001c0002t0048
a0001c0002t0049
a0001c0002t0050
a0001c0002t0055
a0001c0002t0058
a0001c0002t0078
a0001c0002t0086
a0001c0002t0100
a0001c0002t0109
a0001c0005t0010
a0001c0005t0019
a0001c0005t0020
a0001c0005t0042
a0001c0005t0044
a0001c0005t0045
a0001c0005t0046
a0001c0006t0021
a0001c0006t0039
a0001c0006t0040
a0001c0006t0041
a0001c0006t0053
a0001c0006t0057
a0001c0007t0011
a0001c0007t0012
a0001c0007t0023
a0001c0007t0062
a0001c0007t0070
a0001c0011t0051
a0001c0014t0135
a0001c0015t0126
a0001c0016t0052
a0002c0003t0008
a0002c0003t0009
a0002c0003t0018
a0002c0003t0027
a0002c0003t0036
a0002c0003t0037
a0002c0003t0085
a0002c0003t0089
a0002c0003t0090
a0002c0003t0091
a0002c0003t0092
a0002c0003t0093
a0002c0003t0099
a0002c0003t0104
a0002c0003t0131
a0002c0003t0136
a0002c0003t0139
a0002c0003t0140
a0002c0003t0144
a0002c0003t0145
a0002c0003t0146
a0002c0003t0148
a0002c0003t0150
a0003c0004t0004
a0003c0004t0005
a0003c0004t0006
a0003c0004t0022
a0003c0004t0047
a0003c0004t0054
a0003c0004t0056
a0003c0004t0059
a0003c0004t0060
a0003c0004t0061
a0003c0004t0063
a0004c0008t0036
a0004c0008t0103
a0005c0009t0130
a0005c0009t0137
a0005c0009t0147
a0006c0012t0129
a0007c0013t0132
 173 HG00099.hp1
HG00099.hp2
HG00280.hp2
others(170): Show 
HG00099.hp1
HG00099.hp2
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp2
HG00621.hp1
HG00741.hp2
HG01070.hp2
HG01071.hp1
HG01074.hp2
HG01081.hp2
HG01099.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01346.hp2
HG01361.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02056.hp1
HG02056.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18955.hp1
NA18957.hp1
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18967.hp2
NA18973.hp2
NA18977.hp1
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18990.hp1
NA18994.hp1
NA18994.hp2
NA19000.hp1
NA19000.hp2
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19065.hp1
NA19065.hp2
NA19066.hp2
NA19068.hp2
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19087.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
 3_prime_UTR_variant MODIFIER c.*1901A>G
c.*1901A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 1901 chr17 517227
chr17:517243 CTTCTT
CTTCTT
 C
C
 15 a0001c0002t0010
a0001c0002t0022
a0001c0002t0043
others(12): Show 
a0001c0002t0010
a0001c0002t0022
a0001c0002t0043
a0001c0005t0010
a0001c0005t0019
a0001c0005t0020
a0001c0005t0042
a0001c0005t0044
a0001c0005t0045
a0001c0005t0046
a0001c0011t0051
a0001c0016t0052
a0002c0003t0089
a0003c0004t0022
a0003c0004t0047
 18 HG01074.hp2
HG01168.hp2
HG02074.hp2
others(15): Show 
HG01074.hp2
HG01168.hp2
HG02074.hp2
HG02135.hp2
HG02602.hp1
NA18747.hp1
NA18940.hp1
NA18944.hp1
NA18960.hp2
NA18961.hp2
NA18994.hp1
NA18994.hp2
NA19000.hp2
NA19009.hp1
NA19010.hp2
NA19084.hp1
NA19087.hp1
NA19091.hp1
 3_prime_UTR_variant MODIFIER c.*1880_*1884delAAGA
others(1): Show 
c.*1880_*1884delAAGAA
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 1880 chr17 517243
chr17:517609 T
T
 G
G
 1 a0001c0005t0080
a0001c0005t0080
 1 NA18955.hp2
NA18955.hp2
 3_prime_UTR_variant MODIFIER c.*1519A>C
c.*1519A>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 1519 chr17 517609
chr17:517660 C
C
 T
T
 1 a0001c0001t0123
a0001c0001t0123
 1 NA19081.hp2
NA19081.hp2
 3_prime_UTR_variant MODIFIER c.*1468G>A
c.*1468G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 1468 chr17 517660
chr17:517772 C
C
 G
G
 1 a0001c0002t0109
a0001c0002t0109
 1 HG00099.hp1
HG00099.hp1
 3_prime_UTR_variant MODIFIER c.*1356G>C
c.*1356G>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 1356 chr17 517772
chr17:518022 T
T
 C
C
 1 a0001c0006t0057
a0001c0006t0057
 1 HG00280.hp2
HG00280.hp2
 3_prime_UTR_variant MODIFIER c.*1106A>G
c.*1106A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 1106 chr17 518022
chr17:518076 T
T
 C
C
 44 a0001c0001t0015
a0001c0001t0028
a0001c0001t0029
others(41): Show 
a0001c0001t0015
a0001c0001t0028
a0001c0001t0029
a0001c0001t0087
a0001c0001t0088
a0001c0001t0094
a0001c0001t0095
a0001c0001t0096
a0001c0001t0097
a0001c0001t0098
a0001c0001t0105
a0001c0002t0005
a0001c0002t0007
a0001c0002t0010
a0001c0002t0043
a0001c0002t0048
a0001c0002t0049
a0001c0002t0050
a0001c0002t0058
a0001c0002t0078
a0001c0002t0086
a0001c0005t0010
a0001c0005t0019
a0001c0005t0020
a0001c0005t0042
a0001c0005t0044
a0001c0005t0045
a0001c0005t0046
a0001c0011t0051
a0001c0014t0135
a0001c0016t0052
a0002c0003t0008
a0002c0003t0009
a0002c0003t0027
a0002c0003t0085
a0002c0003t0089
a0002c0003t0090
a0002c0003t0091
a0002c0003t0092
a0002c0003t0093
a0002c0003t0104
a0002c0003t0150
a0003c0004t0005
a0003c0004t0047
 64 HG00423.hp2
HG01074.hp2
HG01099.hp1
others(61): Show 
HG00423.hp2
HG01074.hp2
HG01099.hp1
HG01109.hp2
HG01167.hp1
HG01168.hp2
HG01884.hp1
HG01928.hp1
HG01981.hp1
HG02040.hp1
HG02056.hp1
HG02074.hp2
HG02083.hp1
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02280.hp1
HG02293.hp1
HG02300.hp1
HG02572.hp1
HG02602.hp1
HG02622.hp1
HG02622.hp2
HG02723.hp2
HG02818.hp1
HG02818.hp2
HG02922.hp2
HG03139.hp2
HG03225.hp2
HG03491.hp2
HG03516.hp2
NA18612.hp1
NA18747.hp1
NA18944.hp1
NA18945.hp1
NA18948.hp2
NA18950.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp1
NA18962.hp2
NA18979.hp1
NA18987.hp1
NA18994.hp1
NA18994.hp2
NA19000.hp1
NA19000.hp2
NA19007.hp1
NA19009.hp1
NA19010.hp1
NA19010.hp2
NA19060.hp1
NA19060.hp2
NA19065.hp1
NA19074.hp1
NA19080.hp2
NA19081.hp1
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19090.hp1
NA19091.hp1
NA20300.hp2
 3_prime_UTR_variant MODIFIER c.*1052A>G
c.*1052A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 1052 chr17 518076
chr17:518148 G
G
 C
C
 1 a0001c0005t0020
a0001c0005t0020
 2 NA19087.hp1
NA19091.hp1
NA19087.hp1
NA19091.hp1
 3_prime_UTR_variant MODIFIER c.*980C>G
c.*980C>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 980 chr17 518148
chr17:518189 A
A
 C
C
 1 a0001c0005t0080
a0001c0005t0080
 1 NA18955.hp2
NA18955.hp2
 3_prime_UTR_variant MODIFIER c.*939T>G
c.*939T>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 939 chr17 518189
chr17:518197 A
A
 G
G
 121 a0001c0001t0002
a0001c0001t0011
a0001c0001t0015
others(118): Show 
a0001c0001t0002
a0001c0001t0011
a0001c0001t0015
a0001c0001t0016
a0001c0001t0028
a0001c0001t0029
a0001c0001t0030
a0001c0001t0031
a0001c0001t0032
a0001c0001t0033
a0001c0001t0034
a0001c0001t0069
a0001c0001t0084
a0001c0001t0087
a0001c0001t0088
a0001c0001t0094
a0001c0001t0095
a0001c0001t0096
a0001c0001t0097
a0001c0001t0098
a0001c0001t0101
a0001c0001t0102
a0001c0001t0105
a0001c0001t0106
a0001c0001t0107
a0001c0001t0108
a0001c0001t0110
a0001c0001t0111
a0001c0001t0112
a0001c0001t0113
a0001c0001t0114
a0001c0001t0115
a0001c0001t0116
a0001c0001t0117
a0001c0001t0118
a0001c0001t0119
a0001c0001t0120
a0001c0001t0121
a0001c0001t0122
a0001c0001t0127
a0001c0001t0128
a0001c0001t0134
a0001c0001t0138
a0001c0001t0141
a0001c0002t0005
a0001c0002t0007
a0001c0002t0010
a0001c0002t0022
a0001c0002t0043
a0001c0002t0048
a0001c0002t0049
a0001c0002t0050
a0001c0002t0055
a0001c0002t0058
a0001c0002t0078
a0001c0002t0086
a0001c0002t0100
a0001c0002t0109
a0001c0005t0010
a0001c0005t0019
a0001c0005t0020
a0001c0005t0042
a0001c0005t0044
a0001c0005t0045
a0001c0005t0046
a0001c0006t0021
a0001c0006t0039
a0001c0006t0040
a0001c0006t0041
a0001c0006t0053
a0001c0006t0057
a0001c0007t0011
a0001c0007t0012
a0001c0007t0023
a0001c0007t0062
a0001c0007t0070
a0001c0011t0051
a0001c0014t0135
a0001c0015t0126
a0001c0016t0052
a0002c0003t0008
a0002c0003t0009
a0002c0003t0018
a0002c0003t0027
a0002c0003t0036
a0002c0003t0037
a0002c0003t0085
a0002c0003t0089
a0002c0003t0090
a0002c0003t0091
a0002c0003t0092
a0002c0003t0093
a0002c0003t0099
a0002c0003t0104
a0002c0003t0131
a0002c0003t0136
a0002c0003t0139
a0002c0003t0140
a0002c0003t0144
a0002c0003t0145
a0002c0003t0146
a0002c0003t0148
a0002c0003t0150
a0003c0004t0004
a0003c0004t0005
a0003c0004t0006
a0003c0004t0022
a0003c0004t0047
a0003c0004t0054
a0003c0004t0056
a0003c0004t0059
a0003c0004t0060
a0003c0004t0061
a0003c0004t0063
a0004c0008t0036
a0004c0008t0103
a0005c0009t0130
a0005c0009t0137
a0005c0009t0147
a0006c0012t0129
a0007c0013t0132
 173 HG00099.hp1
HG00099.hp2
HG00280.hp2
others(170): Show 
HG00099.hp1
HG00099.hp2
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp2
HG00621.hp1
HG00741.hp2
HG01070.hp2
HG01071.hp1
HG01074.hp2
HG01081.hp2
HG01099.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01346.hp2
HG01361.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02056.hp1
HG02056.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18955.hp1
NA18957.hp1
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18967.hp2
NA18973.hp2
NA18977.hp1
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18990.hp1
NA18994.hp1
NA18994.hp2
NA19000.hp1
NA19000.hp2
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19065.hp1
NA19065.hp2
NA19066.hp2
NA19068.hp2
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19087.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
 3_prime_UTR_variant MODIFIER c.*931T>C
c.*931T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 931 chr17 518197
chr17:518249 C
C
 G
G
 1 a0001c0001t0084
a0001c0001t0084
 1 HG03516.hp1
HG03516.hp1
 3_prime_UTR_variant MODIFIER c.*879G>C
c.*879G>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 879 chr17 518249
chr17:518267 G
G
 A
A
 2 a0001c0002t0078
a0001c0014t0135
a0001c0002t0078
a0001c0014t0135
 2 HG02572.hp1
HG03516.hp2
HG02572.hp1
HG03516.hp2
 3_prime_UTR_variant MODIFIER c.*861C>T
c.*861C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 861 chr17 518267
chr17:518268 C
C
 A
A
 2 a0001c0001t0108
a0001c0001t0118
a0001c0001t0108
a0001c0001t0118
 2 HG01192.hp1
HG01346.hp2
HG01192.hp1
HG01346.hp2
 3_prime_UTR_variant MODIFIER c.*860G>T
c.*860G>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 860 chr17 518268
chr17:518284 C
C
 CG
CG
 28 a0001c0001t0034
a0001c0001t0107
a0001c0001t0108
others(25): Show 
a0001c0001t0034
a0001c0001t0107
a0001c0001t0108
a0001c0001t0120
a0001c0001t0121
a0001c0001t0122
a0001c0001t0123
a0001c0001t0138
a0001c0002t0024
a0001c0002t0025
a0001c0002t0035
a0001c0002t0067
a0001c0002t0079
a0001c0002t0083
a0001c0002t0100
a0001c0002t0125
a0001c0006t0068
a0001c0007t0023
a0002c0003t0099
a0002c0003t0136
a0002c0003t0144
a0002c0003t0145
a0003c0004t0025
a0003c0004t0059
a0003c0004t0060
a0004c0008t0035
a0004c0008t0124
a0005c0009t0137
 31 HG00438.hp1
HG00438.hp2
HG00621.hp2
others(28): Show 
HG00438.hp1
HG00438.hp2
HG00621.hp2
HG01106.hp1
HG01106.hp2
HG01168.hp1
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01361.hp1
HG01496.hp1
HG01928.hp2
HG01978.hp1
HG02738.hp2
HG03831.hp1
HG03831.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
NA18944.hp2
NA18948.hp1
NA18955.hp1
NA18990.hp2
NA19007.hp2
NA19068.hp1
NA19081.hp2
NA19091.hp2
 3_prime_UTR_variant MODIFIER c.*843dupC
c.*843dupC
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 843 chr17 518284
chr17:518284 C
C
 CGCGGG
CGCGGG
 11 a0001c0002t0010
a0001c0002t0043
a0001c0005t0010
others(8): Show 
a0001c0002t0010
a0001c0002t0043
a0001c0005t0010
a0001c0005t0019
a0001c0005t0020
a0001c0005t0042
a0001c0005t0044
a0001c0005t0045
a0001c0005t0046
a0002c0003t0089
a0003c0004t0047
 14 HG02074.hp2
HG02135.hp2
HG02602.hp1
others(11): Show 
HG02074.hp2
HG02135.hp2
HG02602.hp1
NA18747.hp1
NA18944.hp1
NA18960.hp2
NA18994.hp1
NA18994.hp2
NA19000.hp2
NA19009.hp1
NA19010.hp2
NA19084.hp1
NA19087.hp1
NA19091.hp1
 3_prime_UTR_variant MODIFIER c.*843_*844insCCCGC
c.*843_*844insCCCGC
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 843 chr17 518284
chr17:518284 CG
CG
 C
C
 32 a0001c0001t0015
a0001c0001t0028
a0001c0001t0029
others(29): Show 
a0001c0001t0015
a0001c0001t0028
a0001c0001t0029
a0001c0001t0087
a0001c0001t0094
a0001c0001t0095
a0001c0001t0096
a0001c0001t0097
a0001c0001t0098
a0001c0001t0105
a0001c0002t0005
a0001c0002t0007
a0001c0002t0048
a0001c0002t0049
a0001c0002t0050
a0001c0002t0058
a0001c0002t0078
a0001c0002t0086
a0001c0011t0051
a0001c0014t0135
a0001c0016t0052
a0002c0003t0008
a0002c0003t0009
a0002c0003t0027
a0002c0003t0085
a0002c0003t0090
a0002c0003t0091
a0002c0003t0092
a0002c0003t0093
a0002c0003t0104
a0002c0003t0150
a0003c0004t0005
 49 HG00423.hp2
HG01074.hp2
HG01099.hp1
others(46): Show 
HG00423.hp2
HG01074.hp2
HG01099.hp1
HG01109.hp2
HG01167.hp1
HG01168.hp2
HG01928.hp1
HG01981.hp1
HG02040.hp1
HG02056.hp1
HG02083.hp1
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02280.hp1
HG02293.hp1
HG02300.hp1
HG02572.hp1
HG02622.hp1
HG02622.hp2
HG02723.hp2
HG02818.hp1
HG02818.hp2
HG02922.hp2
HG03139.hp2
HG03225.hp2
HG03491.hp2
HG03516.hp2
NA18612.hp1
NA18945.hp1
NA18948.hp2
NA18950.hp1
NA18959.hp2
NA18961.hp1
NA18962.hp2
NA18979.hp1
NA18987.hp1
NA19000.hp1
NA19007.hp1
NA19010.hp1
NA19060.hp1
NA19060.hp2
NA19065.hp1
NA19074.hp1
NA19080.hp2
NA19081.hp1
NA19084.hp2
NA19090.hp1
NA20300.hp2
 3_prime_UTR_variant MODIFIER c.*843delC
c.*843delC
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 843 chr17 518284
chr17:518286 G
G
 C
C
 1 a0001c0001t0088
a0001c0001t0088
 1 HG01884.hp1
HG01884.hp1
 3_prime_UTR_variant MODIFIER c.*842C>G
c.*842C>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 842 chr17 518286
chr17:518287 G
G
 C
C
 42 a0001c0001t0015
a0001c0001t0028
a0001c0001t0029
others(39): Show 
a0001c0001t0015
a0001c0001t0028
a0001c0001t0029
a0001c0001t0094
a0001c0001t0095
a0001c0001t0096
a0001c0001t0097
a0001c0001t0098
a0001c0001t0105
a0001c0002t0005
a0001c0002t0007
a0001c0002t0010
a0001c0002t0043
a0001c0002t0048
a0001c0002t0049
a0001c0002t0050
a0001c0002t0058
a0001c0002t0078
a0001c0002t0086
a0001c0005t0010
a0001c0005t0019
a0001c0005t0020
a0001c0005t0042
a0001c0005t0044
a0001c0005t0045
a0001c0005t0046
a0001c0011t0051
a0001c0014t0135
a0001c0016t0052
a0002c0003t0008
a0002c0003t0009
a0002c0003t0027
a0002c0003t0085
a0002c0003t0089
a0002c0003t0090
a0002c0003t0091
a0002c0003t0092
a0002c0003t0093
a0002c0003t0104
a0002c0003t0150
a0003c0004t0005
a0003c0004t0047
 62 HG00423.hp2
HG01074.hp2
HG01099.hp1
others(59): Show 
HG00423.hp2
HG01074.hp2
HG01099.hp1
HG01109.hp2
HG01167.hp1
HG01168.hp2
HG01928.hp1
HG01981.hp1
HG02040.hp1
HG02056.hp1
HG02074.hp2
HG02083.hp1
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02280.hp1
HG02293.hp1
HG02300.hp1
HG02572.hp1
HG02602.hp1
HG02622.hp1
HG02622.hp2
HG02723.hp2
HG02818.hp2
HG02922.hp2
HG03139.hp2
HG03225.hp2
HG03491.hp2
HG03516.hp2
NA18612.hp1
NA18747.hp1
NA18944.hp1
NA18945.hp1
NA18948.hp2
NA18950.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp1
NA18962.hp2
NA18979.hp1
NA18987.hp1
NA18994.hp1
NA18994.hp2
NA19000.hp1
NA19000.hp2
NA19007.hp1
NA19009.hp1
NA19010.hp1
NA19010.hp2
NA19060.hp1
NA19060.hp2
NA19065.hp1
NA19074.hp1
NA19080.hp2
NA19081.hp1
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19090.hp1
NA19091.hp1
NA20300.hp2
 3_prime_UTR_variant MODIFIER c.*841C>G
c.*841C>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 841 chr17 518287
chr17:518287 G
G
 T
T
 1 a0001c0001t0087
a0001c0001t0087
 1 HG02818.hp1
HG02818.hp1
 3_prime_UTR_variant MODIFIER c.*841C>A
c.*841C>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 841 chr17 518287
chr17:518294 G
G
 A
A
 3 a0001c0001t0031
a0001c0001t0119
a0001c0001t0134
a0001c0001t0031
a0001c0001t0119
a0001c0001t0134
 4 HG01891.hp2
NA18987.hp2
NA20129.hp2
others(1): Show 
HG01891.hp2
NA18987.hp2
NA20129.hp2
NA20300.hp1
 3_prime_UTR_variant MODIFIER c.*834C>T
c.*834C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 834 chr17 518294
chr17:518515 A
A
 G
G
 46 a0001c0001t0015
a0001c0001t0028
a0001c0001t0029
others(43): Show 
a0001c0001t0015
a0001c0001t0028
a0001c0001t0029
a0001c0001t0031
a0001c0001t0087
a0001c0001t0088
a0001c0001t0094
a0001c0001t0095
a0001c0001t0096
a0001c0001t0097
a0001c0001t0098
a0001c0001t0105
a0001c0001t0134
a0001c0002t0005
a0001c0002t0007
a0001c0002t0010
a0001c0002t0043
a0001c0002t0048
a0001c0002t0049
a0001c0002t0050
a0001c0002t0058
a0001c0002t0078
a0001c0002t0086
a0001c0005t0010
a0001c0005t0019
a0001c0005t0020
a0001c0005t0042
a0001c0005t0044
a0001c0005t0045
a0001c0005t0046
a0001c0011t0051
a0001c0014t0135
a0001c0016t0052
a0002c0003t0008
a0002c0003t0009
a0002c0003t0027
a0002c0003t0085
a0002c0003t0089
a0002c0003t0090
a0002c0003t0091
a0002c0003t0092
a0002c0003t0093
a0002c0003t0104
a0002c0003t0150
a0003c0004t0005
a0003c0004t0047
 67 HG00423.hp2
HG01074.hp2
HG01099.hp1
others(64): Show 
HG00423.hp2
HG01074.hp2
HG01099.hp1
HG01109.hp2
HG01167.hp1
HG01168.hp2
HG01884.hp1
HG01891.hp2
HG01928.hp1
HG01981.hp1
HG02040.hp1
HG02056.hp1
HG02074.hp2
HG02083.hp1
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02280.hp1
HG02293.hp1
HG02300.hp1
HG02572.hp1
HG02602.hp1
HG02622.hp1
HG02622.hp2
HG02723.hp2
HG02818.hp1
HG02818.hp2
HG02922.hp2
HG03139.hp2
HG03225.hp2
HG03491.hp2
HG03516.hp2
NA18612.hp1
NA18747.hp1
NA18944.hp1
NA18945.hp1
NA18948.hp2
NA18950.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp1
NA18962.hp2
NA18979.hp1
NA18987.hp1
NA18994.hp1
NA18994.hp2
NA19000.hp1
NA19000.hp2
NA19007.hp1
NA19009.hp1
NA19010.hp1
NA19010.hp2
NA19060.hp1
NA19060.hp2
NA19065.hp1
NA19074.hp1
NA19080.hp2
NA19081.hp1
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19090.hp1
NA19091.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
 3_prime_UTR_variant MODIFIER c.*613T>C
c.*613T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 613 chr17 518515
chr17:518641 C
C
 T
T
 1 a0001c0001t0106
a0001c0001t0106
 1 HG02109.hp2
HG02109.hp2
 3_prime_UTR_variant MODIFIER c.*487G>A
c.*487G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 487 chr17 518641
chr17:518707 CAGTGAGC
others(2): Show 
CAGTGAGCCG
 C
C
 2 a0001c0001t0031
a0001c0001t0134
a0001c0001t0031
a0001c0001t0134
 3 HG01891.hp2
NA20129.hp2
NA20300.hp1
HG01891.hp2
NA20129.hp2
NA20300.hp1
 3_prime_UTR_variant MODIFIER c.*412_*420delCGGCTC
others(3): Show 
c.*412_*420delCGGCTCACT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 412 chr17 518707
chr17:518761 T
T
 C
C
 44 a0001c0001t0015
a0001c0001t0028
a0001c0001t0029
others(41): Show 
a0001c0001t0015
a0001c0001t0028
a0001c0001t0029
a0001c0001t0087
a0001c0001t0088
a0001c0001t0094
a0001c0001t0095
a0001c0001t0096
a0001c0001t0097
a0001c0001t0098
a0001c0001t0105
a0001c0002t0005
a0001c0002t0007
a0001c0002t0010
a0001c0002t0043
a0001c0002t0048
a0001c0002t0049
a0001c0002t0050
a0001c0002t0058
a0001c0002t0078
a0001c0002t0086
a0001c0005t0010
a0001c0005t0019
a0001c0005t0020
a0001c0005t0042
a0001c0005t0044
a0001c0005t0045
a0001c0005t0046
a0001c0011t0051
a0001c0014t0135
a0001c0016t0052
a0002c0003t0008
a0002c0003t0009
a0002c0003t0027
a0002c0003t0085
a0002c0003t0089
a0002c0003t0090
a0002c0003t0091
a0002c0003t0092
a0002c0003t0093
a0002c0003t0104
a0002c0003t0150
a0003c0004t0005
a0003c0004t0047
 64 HG00423.hp2
HG01074.hp2
HG01099.hp1
others(61): Show 
HG00423.hp2
HG01074.hp2
HG01099.hp1
HG01109.hp2
HG01167.hp1
HG01168.hp2
HG01884.hp1
HG01928.hp1
HG01981.hp1
HG02040.hp1
HG02056.hp1
HG02074.hp2
HG02083.hp1
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02280.hp1
HG02293.hp1
HG02300.hp1
HG02572.hp1
HG02602.hp1
HG02622.hp1
HG02622.hp2
HG02723.hp2
HG02818.hp1
HG02818.hp2
HG02922.hp2
HG03139.hp2
HG03225.hp2
HG03491.hp2
HG03516.hp2
NA18612.hp1
NA18747.hp1
NA18944.hp1
NA18945.hp1
NA18948.hp2
NA18950.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp1
NA18962.hp2
NA18979.hp1
NA18987.hp1
NA18994.hp1
NA18994.hp2
NA19000.hp1
NA19000.hp2
NA19007.hp1
NA19009.hp1
NA19010.hp1
NA19010.hp2
NA19060.hp1
NA19060.hp2
NA19065.hp1
NA19074.hp1
NA19080.hp2
NA19081.hp1
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19090.hp1
NA19091.hp1
NA20300.hp2
 3_prime_UTR_variant MODIFIER c.*367A>G
c.*367A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 367 chr17 518761
chr17:518766 C
C
 CA
CA
 24 a0001c0001t0034
a0001c0001t0138
a0001c0001t0141
others(21): Show 
a0001c0001t0034
a0001c0001t0138
a0001c0001t0141
a0001c0002t0014
a0001c0002t0025
a0001c0002t0035
a0001c0002t0038
a0001c0002t0079
a0001c0002t0082
a0001c0002t0143
a0001c0005t0080
a0002c0003t0018
a0002c0003t0036
a0002c0003t0037
a0002c0003t0136
a0002c0003t0139
a0002c0003t0140
a0002c0010t0038
a0003c0004t0025
a0003c0004t0081
a0004c0008t0035
a0004c0008t0036
a0004c0008t0142
a0005c0009t0137
 30 HG00140.hp1
HG00323.hp2
HG00423.hp1
others(27): Show 
HG00140.hp1
HG00323.hp2
HG00423.hp1
HG00438.hp1
HG00621.hp1
HG01071.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01255.hp1
HG01256.hp2
HG01258.hp2
HG01346.hp1
HG01978.hp1
HG02129.hp1
HG02132.hp1
HG03831.hp1
HG03942.hp1
HG04184.hp1
NA18955.hp1
NA18955.hp2
NA18967.hp1
NA18977.hp2
NA18983.hp1
NA18986.hp1
NA19066.hp1
NA19068.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 3_prime_UTR_variant MODIFIER c.*361dupT
c.*361dupT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 361 chr17 518766
chr17:518766 C
C
 CAA
CAA
 9 a0001c0002t0026
a0001c0002t0083
a0001c0002t0149
others(6): Show 
a0001c0002t0026
a0001c0002t0083
a0001c0002t0149
a0001c0006t0041
a0002c0003t0144
a0002c0003t0145
a0002c0003t0146
a0002c0003t0148
a0005c0009t0147
 10 HG00621.hp2
HG01175.hp1
HG01256.hp1
others(7): Show 
HG00621.hp2
HG01175.hp1
HG01256.hp1
HG01258.hp1
HG02738.hp2
HG03942.hp2
HG04199.hp1
NA18979.hp2
NA19066.hp2
NA19090.hp2
 3_prime_UTR_variant MODIFIER c.*360_*361dupTT
c.*360_*361dupTT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 361 chr17 518766
chr17:518766 CA
CA
 C
C
 30 a0001c0001t0002
a0001c0001t0011
a0001c0001t0030
others(27): Show 
a0001c0001t0002
a0001c0001t0011
a0001c0001t0030
a0001c0001t0031
a0001c0001t0106
a0001c0001t0107
a0001c0001t0108
a0001c0001t0110
a0001c0001t0111
a0001c0001t0112
a0001c0001t0113
a0001c0001t0114
a0001c0001t0115
a0001c0001t0116
a0001c0001t0117
a0001c0001t0118
a0001c0001t0119
a0001c0002t0065
a0001c0002t0066
a0001c0002t0109
a0001c0006t0040
a0001c0007t0011
a0001c0007t0012
a0001c0007t0023
a0001c0007t0062
a0003c0004t0059
a0003c0004t0060
a0003c0004t0061
a0003c0004t0063
a0003c0004t0064
 44 HG00099.hp1
HG00741.hp2
HG01081.hp2
others(41): Show 
HG00099.hp1
HG00741.hp2
HG01081.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01346.hp2
HG01361.hp2
HG01496.hp2
HG01515.hp1
HG01517.hp1
HG01517.hp2
HG01884.hp2
HG01891.hp2
HG01928.hp2
HG01978.hp2
HG01981.hp2
HG02040.hp2
HG02083.hp2
HG02109.hp2
HG02129.hp2
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02602.hp2
HG02895.hp2
HG03492.hp2
HG03688.hp2
HG03831.hp2
NA18940.hp2
NA18945.hp2
NA18946.hp2
NA18978.hp1
NA18983.hp2
NA18984.hp2
NA18987.hp2
NA19009.hp2
NA19064.hp1
NA19065.hp2
NA19070.hp2
NA19074.hp2
NA19091.hp2
NA20129.hp1
NA20129.hp2
 3_prime_UTR_variant MODIFIER c.*361delT
c.*361delT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 361 chr17 518766
chr17:518766 CAA
CAA
 C
C
 18 a0001c0001t0101
a0001c0001t0102
a0001c0001t0105
others(15): Show 
a0001c0001t0101
a0001c0001t0102
a0001c0001t0105
a0001c0002t0022
a0001c0002t0055
a0001c0002t0058
a0001c0002t0100
a0001c0006t0039
a0001c0006t0053
a0001c0006t0057
a0002c0003t0099
a0002c0003t0104
a0003c0004t0004
a0003c0004t0006
a0003c0004t0022
a0003c0004t0054
a0003c0004t0056
a0004c0008t0103
 27 HG00099.hp2
HG00280.hp2
HG00438.hp2
others(24): Show 
HG00099.hp2
HG00280.hp2
HG00438.hp2
HG01109.hp2
HG01515.hp2
HG02074.hp1
HG02572.hp2
HG03139.hp1
NA18612.hp2
NA18906.hp2
NA18940.hp1
NA18944.hp2
NA18950.hp2
NA18957.hp1
NA18959.hp1
NA18961.hp2
NA18962.hp1
NA18973.hp2
NA18977.hp1
NA18979.hp1
NA18984.hp1
NA18986.hp2
NA18987.hp1
NA18990.hp1
NA19011.hp2
NA19080.hp1
NA19087.hp2
 3_prime_UTR_variant MODIFIER c.*360_*361delTT
c.*360_*361delTT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 360 chr17 518766
chr17:518766 CAAA
CAAA
 C
C
 30 a0001c0001t0015
a0001c0001t0028
a0001c0001t0029
others(27): Show 
a0001c0001t0015
a0001c0001t0028
a0001c0001t0029
a0001c0001t0087
a0001c0001t0088
a0001c0001t0094
a0001c0001t0095
a0001c0001t0096
a0001c0001t0097
a0001c0001t0098
a0001c0002t0005
a0001c0002t0007
a0001c0002t0048
a0001c0002t0049
a0001c0002t0050
a0001c0005t0046
a0001c0006t0021
a0001c0011t0051
a0001c0016t0052
a0002c0003t0008
a0002c0003t0009
a0002c0003t0027
a0002c0003t0089
a0002c0003t0090
a0002c0003t0091
a0002c0003t0092
a0002c0003t0093
a0002c0003t0150
a0003c0004t0005
a0003c0004t0047
 48 HG00423.hp2
HG01074.hp2
HG01099.hp1
others(45): Show 
HG00423.hp2
HG01074.hp2
HG01099.hp1
HG01167.hp1
HG01168.hp2
HG01884.hp1
HG01928.hp1
HG01981.hp1
HG02040.hp1
HG02056.hp1
HG02074.hp2
HG02083.hp1
HG02135.hp1
HG02145.hp2
HG02280.hp1
HG02293.hp1
HG02300.hp1
HG02622.hp1
HG02622.hp2
HG02723.hp2
HG02818.hp1
HG02818.hp2
HG02922.hp2
HG03139.hp2
HG03225.hp2
HG03491.hp1
HG03492.hp1
NA18612.hp1
NA18945.hp1
NA18948.hp2
NA18950.hp1
NA18959.hp2
NA18961.hp1
NA18962.hp2
NA18994.hp1
NA18994.hp2
NA19000.hp1
NA19007.hp1
NA19010.hp1
NA19060.hp1
NA19060.hp2
NA19065.hp1
NA19074.hp1
NA19080.hp2
NA19081.hp1
NA19084.hp2
NA19090.hp1
NA20300.hp2
 3_prime_UTR_variant MODIFIER c.*359_*361delTTT
c.*359_*361delTTT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 359 chr17 518766
chr17:518766 CAAAA
CAAAA
 C
C
 10 a0001c0002t0010
a0001c0002t0043
a0001c0002t0086
others(7): Show 
a0001c0002t0010
a0001c0002t0043
a0001c0002t0086
a0001c0005t0010
a0001c0005t0019
a0001c0005t0020
a0001c0005t0042
a0001c0005t0044
a0001c0005t0045
a0002c0003t0085
 13 HG02135.hp2
HG02145.hp1
HG02602.hp1
others(10): Show 
HG02135.hp2
HG02145.hp1
HG02602.hp1
HG03491.hp2
NA18747.hp1
NA18944.hp1
NA18960.hp2
NA19000.hp2
NA19009.hp1
NA19010.hp2
NA19084.hp1
NA19087.hp1
NA19091.hp1
 3_prime_UTR_variant MODIFIER c.*358_*361delTTTT
c.*358_*361delTTTT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 358 chr17 518766
chr17:519078 G
G
 A
A
 1 a0001c0001t0084
a0001c0001t0084
 1 HG03516.hp1
HG03516.hp1
 3_prime_UTR_variant MODIFIER c.*50C>T
c.*50C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 50 chr17 519078
chr17:519084 G
G
 A
A
 1 a0002c0003t0150
a0002c0003t0150
 1 HG01981.hp1
HG01981.hp1
 3_prime_UTR_variant MODIFIER c.*44C>T
c.*44C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 22/22 44 chr17 519084
chr17:714753 C
C
 T
T
 3 a0001c0006t0039
a0001c0006t0040
a0001c0006t0041
a0001c0006t0039
a0001c0006t0040
a0001c0006t0041
 3 HG01175.hp1
HG01515.hp2
HG01981.hp2
HG01175.hp1
HG01515.hp2
HG01981.hp2
 5_prime_UTR_variant MODIFIER c.-44G>A
c.-44G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 1/22 44 chr17 714753
chr17:714799 G
G
 A
A
 90 a0001c0001t0002
a0001c0001t0015
a0001c0001t0016
others(87): Show 
a0001c0001t0002
a0001c0001t0015
a0001c0001t0016
a0001c0001t0017
a0001c0001t0028
a0001c0001t0029
a0001c0001t0030
a0001c0001t0031
a0001c0001t0032
a0001c0001t0033
a0001c0001t0034
a0001c0001t0087
a0001c0001t0088
a0001c0001t0094
a0001c0001t0095
a0001c0001t0096
a0001c0001t0097
a0001c0001t0098
a0001c0001t0101
a0001c0001t0102
a0001c0001t0105
a0001c0001t0106
a0001c0001t0107
a0001c0001t0108
a0001c0001t0110
a0001c0001t0111
a0001c0001t0112
a0001c0001t0113
a0001c0001t0114
a0001c0001t0115
a0001c0001t0116
a0001c0001t0117
a0001c0001t0118
a0001c0001t0119
a0001c0001t0120
a0001c0001t0121
a0001c0001t0122
a0001c0001t0123
a0001c0001t0127
a0001c0001t0128
a0001c0001t0134
a0001c0001t0138
a0001c0001t0141
a0001c0002t0017
a0001c0002t0035
a0001c0002t0038
a0001c0002t0086
a0001c0002t0100
a0001c0002t0109
a0001c0002t0125
a0001c0002t0143
a0001c0002t0149
a0001c0014t0135
a0001c0015t0126
a0002c0003t0008
a0002c0003t0009
a0002c0003t0017
a0002c0003t0018
a0002c0003t0027
a0002c0003t0036
a0002c0003t0037
a0002c0003t0085
a0002c0003t0089
a0002c0003t0090
a0002c0003t0091
a0002c0003t0092
a0002c0003t0093
a0002c0003t0099
a0002c0003t0104
a0002c0003t0131
a0002c0003t0136
a0002c0003t0139
a0002c0003t0140
a0002c0003t0144
a0002c0003t0145
a0002c0003t0146
a0002c0003t0148
a0002c0003t0150
a0002c0010t0038
a0004c0008t0035
a0004c0008t0036
a0004c0008t0103
a0004c0008t0124
a0004c0008t0133
a0004c0008t0142
a0005c0009t0130
a0005c0009t0137
a0005c0009t0147
a0006c0012t0129
a0007c0013t0132
 119 HG00099.hp1
HG00140.hp1
HG00323.hp2
others(116): Show 
HG00099.hp1
HG00140.hp1
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00621.hp1
HG00741.hp1
HG00741.hp2
HG01070.hp2
HG01071.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01192.hp1
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01516.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01981.hp1
HG02040.hp1
HG02040.hp2
HG02056.hp1
HG02056.hp2
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02145.hp1
HG02280.hp2
HG02293.hp1
HG02300.hp1
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03491.hp2
HG03492.hp2
HG03688.hp2
HG03831.hp1
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
NA18612.hp1
NA18940.hp2
NA18944.hp2
NA18945.hp2
NA18946.hp1
NA18950.hp1
NA18955.hp1
NA18957.hp2
NA18961.hp1
NA18967.hp2
NA18973.hp2
NA18978.hp2
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18986.hp1
NA18987.hp1
NA18987.hp2
NA18990.hp2
NA19000.hp1
NA19007.hp2
NA19009.hp2
NA19010.hp1
NA19011.hp1
NA19060.hp2
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp2
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19080.hp2
NA19081.hp2
NA19084.hp2
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA21309.hp1
 5_prime_UTR_premature_start_codon_gain_variant LOW c.-90C>T
c.-90C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 1/22 chr17 714799

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
chr17:519584 C
C
 T
T
 1 a0001c0002t0001g0082
a0001c0002t0001g0082
 1 HG02886.hp1
HG02886.hp1
 intron_variant MODIFIER c.2328+242G>A
c.2328+242G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 21/21 chr17 519584
chr17:519656 G
G
 A
A
 67 a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
others(64): Show 
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0097g0199
a0001c0001t0098g0147
a0001c0001t0105g0201
a0001c0001t0134g0154
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0049g0048
a0001c0002t0050g0049
a0001c0002t0058g0052
a0001c0002t0078g0041
a0001c0002t0086g0221
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0011t0051g0091
a0001c0014t0135g0166
a0001c0016t0052g0099
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0085g0184
a0002c0003t0089g0175
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0104g0208
a0002c0003t0150g0191
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0047g0017
 67 HG00423.hp2
HG01074.hp2
HG01099.hp1
others(64): Show 
HG00423.hp2
HG01074.hp2
HG01099.hp1
HG01109.hp2
HG01167.hp1
HG01168.hp2
HG01884.hp1
HG01891.hp2
HG01928.hp1
HG01981.hp1
HG02040.hp1
HG02056.hp1
HG02074.hp2
HG02083.hp1
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02280.hp1
HG02293.hp1
HG02300.hp1
HG02572.hp1
HG02602.hp1
HG02622.hp1
HG02622.hp2
HG02723.hp2
HG02818.hp1
HG02818.hp2
HG02922.hp2
HG03139.hp2
HG03225.hp2
HG03491.hp2
HG03516.hp2
NA18612.hp1
NA18747.hp1
NA18944.hp1
NA18945.hp1
NA18948.hp2
NA18950.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp1
NA18962.hp2
NA18979.hp1
NA18987.hp1
NA18994.hp1
NA18994.hp2
NA19000.hp1
NA19000.hp2
NA19007.hp1
NA19009.hp1
NA19010.hp1
NA19010.hp2
NA19060.hp1
NA19060.hp2
NA19065.hp1
NA19074.hp1
NA19080.hp2
NA19081.hp1
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19090.hp1
NA19091.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
 intron_variant MODIFIER c.2328+170C>T
c.2328+170C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 21/21 chr17 519656
chr17:519780 G
G
 GT
GT
 2 a0001c0002t0078g0041
a0001c0014t0135g0166
a0001c0002t0078g0041
a0001c0014t0135g0166
 2 HG02572.hp1
HG03516.hp2
HG02572.hp1
HG03516.hp2
 intron_variant MODIFIER c.2328+45dupA
c.2328+45dupA
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 21/21 chr17 519780
chr17:519811 T
T
 C
C
 173 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(170): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0032g0114
a0001c0001t0032g0204
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0034g0126
a0001c0001t0034g0162
a0001c0001t0069g0012
a0001c0001t0084g0046
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0097g0199
a0001c0001t0098g0147
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0105g0201
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0108g0148
a0001c0001t0110g0127
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0118g0195
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0122g0160
a0001c0001t0127g0159
a0001c0001t0128g0132
a0001c0001t0134g0154
a0001c0001t0138g0161
a0001c0001t0141g0165
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0022g0085
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0049g0048
a0001c0002t0050g0049
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0078g0041
a0001c0002t0086g0221
a0001c0002t0100g0223
a0001c0002t0109g0222
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0001c0011t0051g0091
a0001c0014t0135g0166
a0001c0015t0126g0149
a0001c0016t0052g0099
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0018g0231
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0085g0184
a0002c0003t0089g0175
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0099g0192
a0002c0003t0104g0208
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0145g0187
a0002c0003t0146g0170
a0002c0003t0148g0174
a0002c0003t0150g0191
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0004c0008t0036g0207
a0004c0008t0103g0227
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
a0006c0012t0129g0140
a0007c0013t0132g0163
 173 HG00099.hp1
HG00099.hp2
HG00280.hp2
others(170): Show 
HG00099.hp1
HG00099.hp2
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp2
HG00621.hp1
HG00741.hp2
HG01070.hp2
HG01071.hp1
HG01074.hp2
HG01081.hp2
HG01099.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01346.hp2
HG01361.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02056.hp1
HG02056.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18955.hp1
NA18957.hp1
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18967.hp2
NA18973.hp2
NA18977.hp1
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18990.hp1
NA18994.hp1
NA18994.hp2
NA19000.hp1
NA19000.hp2
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19065.hp1
NA19065.hp2
NA19066.hp2
NA19068.hp2
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19087.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
 intron_variant MODIFIER c.2328+15A>G
c.2328+15A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 21/21 chr17 519811
chr17:519979 C
C
 G
G
 1 a0001c0001t0134g0154
a0001c0001t0134g0154
 1 NA20300.hp1
NA20300.hp1
 intron_variant MODIFIER c.2224-49G>C
c.2224-49G>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 20/21 chr17 519979
chr17:520314 G
G
 A
A
 2 a0001c0001t0108g0148
a0001c0001t0118g0195
a0001c0001t0108g0148
a0001c0001t0118g0195
 2 HG01192.hp1
HG01346.hp2
HG01192.hp1
HG01346.hp2
 intron_variant MODIFIER c.2224-384C>T
c.2224-384C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 20/21 chr17 520314
chr17:520451 A
A
 G
G
 2 a0001c0002t0078g0041
a0001c0014t0135g0166
a0001c0002t0078g0041
a0001c0014t0135g0166
 2 HG02572.hp1
HG03516.hp2
HG02572.hp1
HG03516.hp2
 intron_variant MODIFIER c.2224-521T>C
c.2224-521T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 20/21 chr17 520451
chr17:520655 G
G
 A
A
 32 a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
others(29): Show 
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0094g0129
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0048g0089
a0001c0002t0058g0052
a0001c0002t0086g0221
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0085g0184
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0104g0208
a0002c0003t0150g0191
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
 32 HG00423.hp2
HG01099.hp1
HG01928.hp1
others(29): Show 
HG00423.hp2
HG01099.hp1
HG01928.hp1
HG01981.hp1
HG02040.hp1
HG02056.hp1
HG02083.hp1
HG02135.hp1
HG02145.hp1
HG02293.hp1
HG02300.hp1
HG03491.hp2
NA18612.hp1
NA18945.hp1
NA18948.hp2
NA18950.hp1
NA18959.hp2
NA18961.hp1
NA18962.hp2
NA18979.hp1
NA18987.hp1
NA19000.hp1
NA19007.hp1
NA19010.hp1
NA19060.hp1
NA19060.hp2
NA19065.hp1
NA19074.hp1
NA19080.hp2
NA19081.hp1
NA19084.hp2
NA19090.hp1
 intron_variant MODIFIER c.2224-725C>T
c.2224-725C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 20/21 chr17 520655
chr17:520727 C
C
 CAGCAGTA
others(13): Show 
CAGCAGTAAGCAGCAGGGAAA
 16 a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0043g0064
others(13): Show 
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0043g0064
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0011t0051g0091
a0001c0016t0052g0099
a0002c0003t0089g0175
a0003c0004t0047g0017
 16 HG01074.hp2
HG01168.hp2
HG02074.hp2
others(13): Show 
HG01074.hp2
HG01168.hp2
HG02074.hp2
HG02135.hp2
HG02602.hp1
NA18747.hp1
NA18944.hp1
NA18960.hp2
NA18994.hp1
NA18994.hp2
NA19000.hp2
NA19009.hp1
NA19010.hp2
NA19084.hp1
NA19087.hp1
NA19091.hp1
 intron_variant MODIFIER c.2224-817_2224-798d
others(22): Show 
c.2224-817_2224-798dupTTTCCCTGCTGCTTACTGCT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 20/21 chr17 520727
chr17:520766 T
T
 C
C
 1 a0001c0001t0096g0146
a0001c0001t0096g0146
 1 HG03225.hp2
HG03225.hp2
 intron_variant MODIFIER c.2223+835A>G
c.2223+835A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 20/21 chr17 520766
chr17:520786 T
T
 TCTTCACC
others(17): Show 
TCTTCACCCTCACCTACATGAGCTG
 71 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(68): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0032g0114
a0001c0001t0032g0204
a0001c0001t0034g0126
a0001c0001t0034g0162
a0001c0001t0069g0012
a0001c0001t0084g0046
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0110g0127
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0122g0160
a0001c0001t0128g0132
a0001c0001t0134g0154
a0001c0001t0138g0161
a0001c0001t0141g0165
a0001c0002t0109g0222
a0001c0006t0041g0001
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0001c0015t0126g0149
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0018g0231
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0145g0187
a0002c0003t0146g0170
a0002c0003t0148g0174
a0004c0008t0036g0207
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
a0006c0012t0129g0140
a0007c0013t0132g0163
 71 HG00099.hp1
HG00323.hp2
HG00423.hp1
others(68): Show 
HG00099.hp1
HG00323.hp2
HG00423.hp1
HG00621.hp1
HG00741.hp2
HG01070.hp2
HG01071.hp1
HG01081.hp2
HG01106.hp2
HG01109.hp1
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01361.hp2
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp2
HG01891.hp2
HG01928.hp2
HG01978.hp2
HG02040.hp2
HG02056.hp2
HG02083.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02602.hp2
HG02723.hp1
HG02738.hp2
HG02895.hp1
HG02922.hp1
HG03492.hp2
HG03516.hp1
HG03688.hp2
HG03831.hp1
HG03942.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
NA18940.hp2
NA18945.hp2
NA18946.hp1
NA18955.hp1
NA18967.hp2
NA18978.hp2
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18986.hp1
NA18987.hp2
NA19009.hp2
NA19065.hp2
NA19066.hp2
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19079.hp2
NA19090.hp2
NA20129.hp2
NA20300.hp1
 intron_variant MODIFIER c.2223+791_2223+814d
others(26): Show 
c.2223+791_2223+814dupCAGCTCATGTAGGTGAGGGTGAAG
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 20/21 chr17 520786
chr17:520834 GCTTCACC
others(16): Show 
GCTTCACCCTCACCTACATGAGCT
 G
G
 6 a0001c0002t0066g0070
a0001c0002t0072g0071
a0001c0002t0082g0069
others(3): Show 
a0001c0002t0066g0070
a0001c0002t0072g0071
a0001c0002t0082g0069
a0001c0002t0083g0067
a0002c0003t0073g0068
a0004c0008t0133g0232
 6 HG00621.hp2
NA18946.hp2
NA18960.hp1
others(3): Show 
HG00621.hp2
NA18946.hp2
NA18960.hp1
NA18977.hp2
NA19011.hp1
NA19079.hp1
 intron_variant MODIFIER c.2223+744_2223+766d
others(25): Show 
c.2223+744_2223+766delAGCTCATGTAGGTGAGGGTGAAG
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 20/21 chr17 520834
chr17:520975 T
T
 A
A
 1 a0003c0004t0061g0031
a0003c0004t0061g0031
 1 NA18978.hp1
NA18978.hp1
 intron_variant MODIFIER c.2223+626A>T
c.2223+626A>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 20/21 chr17 520975
chr17:521069 T
T
 C
C
 16 a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0043g0064
others(13): Show 
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0043g0064
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0011t0051g0091
a0001c0016t0052g0099
a0002c0003t0089g0175
a0003c0004t0047g0017
 16 HG01074.hp2
HG01168.hp2
HG02074.hp2
others(13): Show 
HG01074.hp2
HG01168.hp2
HG02074.hp2
HG02135.hp2
HG02602.hp1
NA18747.hp1
NA18944.hp1
NA18960.hp2
NA18994.hp1
NA18994.hp2
NA19000.hp2
NA19009.hp1
NA19010.hp2
NA19084.hp1
NA19087.hp1
NA19091.hp1
 intron_variant MODIFIER c.2223+532A>G
c.2223+532A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 20/21 chr17 521069
chr17:521559 A
A
 C
C
 2 a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0053
a0001c0002t0003g0054
 2 HG01071.hp2
HG01074.hp1
HG01071.hp2
HG01074.hp1
 intron_variant MODIFIER c.2223+42T>G
c.2223+42T>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 20/21 chr17 521559
chr17:521859 G
G
 T
T
 172 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(169): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0032g0114
a0001c0001t0032g0204
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0034g0126
a0001c0001t0034g0162
a0001c0001t0069g0012
a0001c0001t0084g0046
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0097g0199
a0001c0001t0098g0147
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0105g0201
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0108g0148
a0001c0001t0110g0127
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0118g0195
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0122g0160
a0001c0001t0127g0159
a0001c0001t0128g0132
a0001c0001t0134g0154
a0001c0001t0138g0161
a0001c0001t0141g0165
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0022g0085
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0049g0048
a0001c0002t0050g0049
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0078g0041
a0001c0002t0086g0221
a0001c0002t0100g0223
a0001c0002t0109g0222
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0001c0011t0051g0091
a0001c0014t0135g0166
a0001c0015t0126g0149
a0001c0016t0052g0099
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0018g0231
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0085g0184
a0002c0003t0089g0175
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0099g0192
a0002c0003t0104g0208
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0145g0187
a0002c0003t0146g0170
a0002c0003t0148g0174
a0002c0003t0150g0191
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0004c0008t0036g0207
a0004c0008t0103g0227
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
a0006c0012t0129g0140
a0007c0013t0132g0163
 172 HG00099.hp1
HG00099.hp2
HG00280.hp2
others(169): Show 
HG00099.hp1
HG00099.hp2
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp2
HG00621.hp1
HG00741.hp2
HG01070.hp2
HG01071.hp1
HG01074.hp2
HG01081.hp2
HG01099.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01346.hp2
HG01361.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02056.hp1
HG02056.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18955.hp1
NA18957.hp1
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18967.hp2
NA18973.hp2
NA18977.hp1
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp2
NA18984.hp1
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18990.hp1
NA18994.hp1
NA18994.hp2
NA19000.hp1
NA19000.hp2
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19065.hp1
NA19065.hp2
NA19066.hp2
NA19068.hp2
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19087.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
 intron_variant MODIFIER c.2086-121C>A
c.2086-121C>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 19/21 chr17 521859
chr17:521880 A
A
 G
G
 2 a0003c0004t0004g0021
a0003c0004t0004g0026
a0003c0004t0004g0021
a0003c0004t0004g0026
 2 NA18990.hp1
NA19011.hp2
NA18990.hp1
NA19011.hp2
 intron_variant MODIFIER c.2086-142T>C
c.2086-142T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 19/21 chr17 521880
chr17:522002 C
C
 T
T
 4 a0002c0003t0009g0186
a0002c0003t0009g0218
a0002c0003t0027g0169
others(1): Show 
a0002c0003t0009g0186
a0002c0003t0009g0218
a0002c0003t0027g0169
a0002c0003t0027g0181
 4 HG02040.hp1
HG02056.hp1
NA19000.hp1
others(1): Show 
HG02040.hp1
HG02056.hp1
NA19000.hp1
NA19074.hp1
 intron_variant MODIFIER c.2086-264G>A
c.2086-264G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 19/21 chr17 522002
chr17:522004 A
A
 G
G
 1 a0001c0002t0143g0226
a0001c0002t0143g0226
 1 HG00140.hp1
HG00140.hp1
 intron_variant MODIFIER c.2086-266T>C
c.2086-266T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 19/21 chr17 522004
chr17:522125 G
G
 A
A
 1 a0001c0001t0087g0198
a0001c0001t0087g0198
 1 HG02818.hp1
HG02818.hp1
 intron_variant MODIFIER c.2086-387C>T
c.2086-387C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 19/21 chr17 522125
chr17:522243 G
G
 A
A
 40 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(37): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0069g0012
a0001c0001t0084g0046
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0110g0127
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0128g0132
a0001c0002t0109g0222
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0006c0012t0129g0140
 40 HG00099.hp1
HG00741.hp2
HG01081.hp2
others(37): Show 
HG00099.hp1
HG00741.hp2
HG01081.hp2
HG01175.hp2
HG01192.hp2
HG01255.hp2
HG01361.hp2
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp2
HG01928.hp2
HG01978.hp2
HG02040.hp2
HG02056.hp2
HG02083.hp2
HG02109.hp2
HG02129.hp2
HG02132.hp2
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02602.hp2
HG03492.hp2
HG03516.hp1
HG03688.hp2
HG04184.hp2
HG04199.hp2
NA18940.hp2
NA18945.hp2
NA18967.hp2
NA18978.hp2
NA18983.hp2
NA18987.hp2
NA19009.hp2
NA19065.hp2
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19079.hp2
 intron_variant MODIFIER c.2086-505C>T
c.2086-505C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 19/21 chr17 522243
chr17:522344 T
T
 C
C
 3 a0001c0001t0002g0213
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0001t0002g0213
a0001c0007t0011g0105
a0001c0007t0011g0106
 3 HG01515.hp1
HG01517.hp2
HG03688.hp2
HG01515.hp1
HG01517.hp2
HG03688.hp2
 intron_variant MODIFIER c.2086-606A>G
c.2086-606A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 19/21 chr17 522344
chr17:522636 T
T
 C
C
 1 a0001c0002t0001g0045
a0001c0002t0001g0045
 1 HG01070.hp1
HG01070.hp1
 intron_variant MODIFIER c.2086-898A>G
c.2086-898A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 19/21 chr17 522636
chr17:522805 G
G
 A
A
 1 a0001c0001t0084g0046
a0001c0001t0084g0046
 1 HG03516.hp1
HG03516.hp1
 intron_variant MODIFIER c.2086-1067C>T
c.2086-1067C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 19/21 chr17 522805
chr17:522876 T
T
 C
C
 226 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(223): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0017g0158
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0032g0114
a0001c0001t0032g0204
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0034g0126
a0001c0001t0034g0162
a0001c0001t0069g0012
a0001c0001t0084g0046
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0097g0199
a0001c0001t0098g0147
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0105g0201
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0108g0148
a0001c0001t0110g0127
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0118g0195
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0122g0160
a0001c0001t0123g0123
a0001c0001t0127g0159
a0001c0001t0128g0132
a0001c0001t0134g0154
a0001c0001t0138g0161
a0001c0001t0141g0165
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0001g0094
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0017g0225
a0001c0002t0022g0085
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0035g0219
a0001c0002t0038g0224
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0049g0048
a0001c0002t0050g0049
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0065g0093
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0077g0095
a0001c0002t0078g0041
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0002t0086g0221
a0001c0002t0100g0223
a0001c0002t0109g0222
a0001c0002t0125g0116
a0001c0002t0143g0226
a0001c0002t0149g0202
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0001c0011t0051g0091
a0001c0014t0135g0166
a0001c0015t0126g0149
a0001c0016t0052g0099
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0017g0179
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0018g0231
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0073g0068
a0002c0003t0085g0184
a0002c0003t0089g0175
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0099g0192
a0002c0003t0104g0208
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0145g0187
a0002c0003t0146g0170
a0002c0003t0148g0174
a0002c0003t0150g0191
a0002c0010t0038g0156
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
a0004c0008t0035g0203
a0004c0008t0036g0207
a0004c0008t0103g0227
a0004c0008t0124g0229
a0004c0008t0133g0232
a0004c0008t0142g0228
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
a0006c0012t0129g0140
a0007c0013t0132g0163
 226 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(223): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00621.hp1
HG00621.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02056.hp1
HG02056.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18955.hp1
NA18955.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18967.hp1
NA18967.hp2
NA18973.hp1
NA18973.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18990.hp1
NA18990.hp2
NA18994.hp1
NA18994.hp2
NA19000.hp1
NA19000.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19087.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2086-1138A>G
c.2086-1138A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 19/21 chr17 522876
chr17:522990 G
G
 A
A
 1 a0001c0001t0118g0195
a0001c0001t0118g0195
 1 HG01346.hp2
HG01346.hp2
 intron_variant MODIFIER c.2086-1252C>T
c.2086-1252C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 19/21 chr17 522990
chr17:523090 T
T
 C
C
 6 a0001c0002t0066g0070
a0001c0002t0072g0071
a0001c0002t0082g0069
others(3): Show 
a0001c0002t0066g0070
a0001c0002t0072g0071
a0001c0002t0082g0069
a0001c0002t0083g0067
a0002c0003t0073g0068
a0004c0008t0133g0232
 6 HG00621.hp2
NA18946.hp2
NA18960.hp1
others(3): Show 
HG00621.hp2
NA18946.hp2
NA18960.hp1
NA18977.hp2
NA19011.hp1
NA19079.hp1
 intron_variant MODIFIER c.2086-1352A>G
c.2086-1352A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 19/21 chr17 523090
chr17:523110 C
C
 A
A
 4 a0003c0004t0003g0018
a0003c0004t0003g0043
a0003c0004t0064g0042
others(1): Show 
a0003c0004t0003g0018
a0003c0004t0003g0043
a0003c0004t0064g0042
a0003c0004t0071g0037
 4 HG01516.hp2
HG01517.hp1
NA18906.hp1
others(1): Show 
HG01516.hp2
HG01517.hp1
NA18906.hp1
NA20805.hp1
 intron_variant MODIFIER c.2086-1372G>T
c.2086-1372G>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 19/21 chr17 523110
chr17:523206 G
G
 A
A
 1 a0003c0004t0003g0036
a0003c0004t0003g0036
 1 HG02109.hp1
HG02109.hp1
 intron_variant MODIFIER c.2086-1468C>T
c.2086-1468C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 19/21 chr17 523206
chr17:523208 G
G
 C
C
 1 a0003c0004t0003g0036
a0003c0004t0003g0036
 1 HG02109.hp1
HG02109.hp1
 intron_variant MODIFIER c.2086-1470C>G
c.2086-1470C>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 19/21 chr17 523208
chr17:523511 A
A
 T
T
 1 a0001c0001t0107g0212
a0001c0001t0107g0212
 1 HG01255.hp2
HG01255.hp2
 intron_variant MODIFIER c.2086-1773T>A
c.2086-1773T>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 19/21 chr17 523511
chr17:524038 C
C
 T
T
 1 a0003c0004t0004g0026
a0003c0004t0004g0026
 1 NA18990.hp1
NA18990.hp1
 intron_variant MODIFIER c.2086-2300G>A
c.2086-2300G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 19/21 chr17 524038
chr17:524064 C
C
 T
T
 2 a0001c0001t0111g0164
a0001c0002t0055g0084
a0001c0001t0111g0164
a0001c0002t0055g0084
 2 HG02895.hp2
NA18906.hp2
HG02895.hp2
NA18906.hp2
 intron_variant MODIFIER c.2086-2326G>A
c.2086-2326G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 19/21 chr17 524064
chr17:524283 CATAAAAA
others(7): Show 
CATAAAAAATAAAAA
 C
C
 2 a0001c0002t0078g0041
a0001c0014t0135g0166
a0001c0002t0078g0041
a0001c0014t0135g0166
 2 HG02572.hp1
HG03516.hp2
HG02572.hp1
HG03516.hp2
 intron_variant MODIFIER c.2086-2559_2086-254
others(18): Show 
c.2086-2559_2086-2546delTTTTTATTTTTTAT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 19/21 chr17 524283
chr17:524299 T
T
 G
G
 1 a0002c0003t0136g0216
a0002c0003t0136g0216
 1 HG03831.hp1
HG03831.hp1
 intron_variant MODIFIER c.2086-2561A>C
c.2086-2561A>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 19/21 chr17 524299
chr17:524303 A
A
 AAAG
AAAG
 16 a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0043g0064
others(13): Show 
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0043g0064
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0011t0051g0091
a0001c0016t0052g0099
a0002c0003t0089g0175
a0003c0004t0047g0017
 16 HG01074.hp2
HG01168.hp2
HG02074.hp2
others(13): Show 
HG01074.hp2
HG01168.hp2
HG02074.hp2
HG02135.hp2
HG02602.hp1
NA18747.hp1
NA18944.hp1
NA18960.hp2
NA18994.hp1
NA18994.hp2
NA19000.hp2
NA19009.hp1
NA19010.hp2
NA19084.hp1
NA19087.hp1
NA19091.hp1
 intron_variant MODIFIER c.2086-2568_2086-256
others(7): Show 
c.2086-2568_2086-2566dupCTT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 19/21 chr17 524303
chr17:524577 C
C
 T
T
 1 a0002c0003t0008g0182
a0002c0003t0008g0182
 1 HG02083.hp1
HG02083.hp1
 intron_variant MODIFIER c.2086-2839G>A
c.2086-2839G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 19/21 chr17 524577
chr17:524766 C
C
 T
T
 1 a0001c0002t0049g0048
a0001c0002t0049g0048
 1 HG02145.hp2
HG02145.hp2
 intron_variant MODIFIER c.2086-3028G>A
c.2086-3028G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 19/21 chr17 524766
chr17:524831 C
C
 T
T
 5 a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0098g0147
others(2): Show 
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0098g0147
a0001c0001t0105g0201
a0001c0002t0050g0049
 5 HG01109.hp2
HG02280.hp1
HG02818.hp2
others(2): Show 
HG01109.hp2
HG02280.hp1
HG02818.hp2
HG03225.hp2
NA20300.hp2
 intron_variant MODIFIER c.2086-3093G>A
c.2086-3093G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 19/21 chr17 524831
chr17:524981 TC
TC
 T
T
 28 a0001c0001t0032g0114
a0001c0001t0032g0204
a0001c0001t0034g0126
others(25): Show 
a0001c0001t0032g0114
a0001c0001t0032g0204
a0001c0001t0034g0126
a0001c0001t0034g0162
a0001c0001t0122g0160
a0001c0001t0138g0161
a0001c0001t0141g0165
a0001c0006t0041g0001
a0001c0015t0126g0149
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0018g0231
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0145g0187
a0002c0003t0146g0170
a0002c0003t0148g0174
a0004c0008t0036g0207
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
a0007c0013t0132g0163
 28 HG00323.hp2
HG00423.hp1
HG00621.hp1
others(25): Show 
HG00323.hp2
HG00423.hp1
HG00621.hp1
HG01070.hp2
HG01071.hp1
HG01106.hp2
HG01109.hp1
HG01175.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG02129.hp1
HG02132.hp1
HG02723.hp1
HG02738.hp2
HG02895.hp1
HG02922.hp1
HG03831.hp1
HG03942.hp1
HG04199.hp1
HG04204.hp1
NA18946.hp1
NA18955.hp1
NA18979.hp2
NA18983.hp1
NA18986.hp1
NA19066.hp2
NA19090.hp2
 intron_variant MODIFIER c.2086-3244delG
c.2086-3244delG
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 19/21 chr17 524981
chr17:525007 A
A
 G
G
 38 a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
others(35): Show 
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0094g0129
a0001c0001t0134g0154
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0048g0089
a0001c0002t0058g0052
a0001c0002t0086g0221
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0085g0184
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0104g0208
a0002c0003t0150g0191
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
 38 HG00423.hp2
HG01099.hp1
HG01167.hp1
others(35): Show 
HG00423.hp2
HG01099.hp1
HG01167.hp1
HG01891.hp2
HG01928.hp1
HG01981.hp1
HG02040.hp1
HG02056.hp1
HG02083.hp1
HG02135.hp1
HG02145.hp1
HG02293.hp1
HG02300.hp1
HG02622.hp1
HG02723.hp2
HG03491.hp2
NA18612.hp1
NA18945.hp1
NA18948.hp2
NA18950.hp1
NA18959.hp2
NA18961.hp1
NA18962.hp2
NA18979.hp1
NA18987.hp1
NA19000.hp1
NA19007.hp1
NA19010.hp1
NA19060.hp1
NA19060.hp2
NA19065.hp1
NA19074.hp1
NA19080.hp2
NA19081.hp1
NA19084.hp2
NA19090.hp1
NA20129.hp2
NA20300.hp1
 intron_variant MODIFIER c.2086-3269T>C
c.2086-3269T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 19/21 chr17 525007
chr17:525035 T
T
 C
C
 16 a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0043g0064
others(13): Show 
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0043g0064
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0011t0051g0091
a0001c0016t0052g0099
a0002c0003t0089g0175
a0003c0004t0047g0017
 16 HG01074.hp2
HG01168.hp2
HG02074.hp2
others(13): Show 
HG01074.hp2
HG01168.hp2
HG02074.hp2
HG02135.hp2
HG02602.hp1
NA18747.hp1
NA18944.hp1
NA18960.hp2
NA18994.hp1
NA18994.hp2
NA19000.hp2
NA19009.hp1
NA19010.hp2
NA19084.hp1
NA19087.hp1
NA19091.hp1
 intron_variant MODIFIER c.2086-3297A>G
c.2086-3297A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 19/21 chr17 525035
chr17:525073 T
T
 G
G
 8 a0001c0001t0117g0230
a0001c0007t0012g0108
a0001c0007t0012g0110
others(5): Show 
a0001c0001t0117g0230
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
 8 HG01081.hp2
HG01175.hp2
HG01192.hp2
others(5): Show 
HG01081.hp2
HG01175.hp2
HG01192.hp2
HG01496.hp2
HG01928.hp2
HG01978.hp2
HG02293.hp2
HG02300.hp2
 intron_variant MODIFIER c.2086-3335A>C
c.2086-3335A>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 19/21 chr17 525073
chr17:525206 T
T
 C
C
 1 a0007c0013t0132g0163
a0007c0013t0132g0163
 1 HG04204.hp1
HG04204.hp1
 intron_variant MODIFIER c.2086-3468A>G
c.2086-3468A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 19/21 chr17 525206
chr17:525354 G
G
 A
A
 27 a0001c0001t0032g0204
a0001c0001t0034g0126
a0001c0001t0034g0162
others(24): Show 
a0001c0001t0032g0204
a0001c0001t0034g0126
a0001c0001t0034g0162
a0001c0001t0122g0160
a0001c0001t0138g0161
a0001c0001t0141g0165
a0001c0006t0041g0001
a0001c0015t0126g0149
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0018g0231
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0145g0187
a0002c0003t0146g0170
a0002c0003t0148g0174
a0004c0008t0036g0207
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
a0007c0013t0132g0163
 27 HG00323.hp2
HG00423.hp1
HG00621.hp1
others(24): Show 
HG00323.hp2
HG00423.hp1
HG00621.hp1
HG01070.hp2
HG01071.hp1
HG01106.hp2
HG01109.hp1
HG01175.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG02129.hp1
HG02132.hp1
HG02723.hp1
HG02738.hp2
HG02922.hp1
HG03831.hp1
HG03942.hp1
HG04199.hp1
HG04204.hp1
NA18946.hp1
NA18955.hp1
NA18979.hp2
NA18983.hp1
NA18986.hp1
NA19066.hp2
NA19090.hp2
 intron_variant MODIFIER c.2086-3616C>T
c.2086-3616C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 19/21 chr17 525354
chr17:525398 T
T
 C
C
 1 a0002c0003t0145g0187
a0002c0003t0145g0187
 1 HG04199.hp1
HG04199.hp1
 intron_variant MODIFIER c.2086-3660A>G
c.2086-3660A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 19/21 chr17 525398
chr17:525409 C
C
 G
G
 16 a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0043g0064
others(13): Show 
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0043g0064
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0011t0051g0091
a0001c0016t0052g0099
a0002c0003t0089g0175
a0003c0004t0047g0017
 16 HG01074.hp2
HG01168.hp2
HG02074.hp2
others(13): Show 
HG01074.hp2
HG01168.hp2
HG02074.hp2
HG02135.hp2
HG02602.hp1
NA18747.hp1
NA18944.hp1
NA18960.hp2
NA18994.hp1
NA18994.hp2
NA19000.hp2
NA19009.hp1
NA19010.hp2
NA19084.hp1
NA19087.hp1
NA19091.hp1
 intron_variant MODIFIER c.2086-3671G>C
c.2086-3671G>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 19/21 chr17 525409
chr17:525620 G
G
 C
C
 14 a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0043g0064
others(11): Show 
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0043g0064
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0002c0003t0089g0175
a0003c0004t0047g0017
 14 HG02074.hp2
HG02135.hp2
HG02602.hp1
others(11): Show 
HG02074.hp2
HG02135.hp2
HG02602.hp1
NA18747.hp1
NA18944.hp1
NA18960.hp2
NA18994.hp1
NA18994.hp2
NA19000.hp2
NA19009.hp1
NA19010.hp2
NA19084.hp1
NA19087.hp1
NA19091.hp1
 intron_variant MODIFIER c.2086-3882C>G
c.2086-3882C>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 19/21 chr17 525620
chr17:525727 G
G
 A
A
 56 a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
others(53): Show 
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0097g0199
a0001c0001t0098g0147
a0001c0001t0105g0201
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0127g0159
a0001c0001t0134g0154
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0048g0089
a0001c0002t0049g0048
a0001c0002t0050g0049
a0001c0002t0058g0052
a0001c0002t0078g0041
a0001c0002t0086g0221
a0001c0014t0135g0166
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0085g0184
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0104g0208
a0002c0003t0150g0191
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
 56 HG00423.hp2
HG01099.hp1
HG01109.hp2
others(53): Show 
HG00423.hp2
HG01099.hp1
HG01109.hp2
HG01167.hp1
HG01884.hp1
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01981.hp1
HG02040.hp1
HG02056.hp1
HG02083.hp1
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02280.hp1
HG02293.hp1
HG02300.hp1
HG02572.hp1
HG02622.hp1
HG02622.hp2
HG02723.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp2
HG02922.hp2
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03491.hp2
HG03516.hp2
NA18612.hp1
NA18945.hp1
NA18948.hp2
NA18950.hp1
NA18959.hp2
NA18961.hp1
NA18962.hp2
NA18979.hp1
NA18987.hp1
NA19000.hp1
NA19007.hp1
NA19010.hp1
NA19060.hp1
NA19060.hp2
NA19065.hp1
NA19074.hp1
NA19080.hp2
NA19081.hp1
NA19084.hp2
NA19090.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
 intron_variant MODIFIER c.2086-3989C>T
c.2086-3989C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 19/21 chr17 525727
chr17:525772 A
A
 C
C
 173 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(170): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0032g0114
a0001c0001t0032g0204
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0034g0126
a0001c0001t0034g0162
a0001c0001t0069g0012
a0001c0001t0084g0046
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0097g0199
a0001c0001t0098g0147
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0105g0201
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0108g0148
a0001c0001t0110g0127
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0118g0195
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0122g0160
a0001c0001t0127g0159
a0001c0001t0128g0132
a0001c0001t0134g0154
a0001c0001t0138g0161
a0001c0001t0141g0165
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0022g0085
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0049g0048
a0001c0002t0050g0049
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0078g0041
a0001c0002t0086g0221
a0001c0002t0100g0223
a0001c0002t0109g0222
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0001c0011t0051g0091
a0001c0014t0135g0166
a0001c0015t0126g0149
a0001c0016t0052g0099
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0018g0231
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0085g0184
a0002c0003t0089g0175
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0099g0192
a0002c0003t0104g0208
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0145g0187
a0002c0003t0146g0170
a0002c0003t0148g0174
a0002c0003t0150g0191
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0004c0008t0036g0207
a0004c0008t0103g0227
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
a0006c0012t0129g0140
a0007c0013t0132g0163
 173 HG00099.hp1
HG00099.hp2
HG00280.hp2
others(170): Show 
HG00099.hp1
HG00099.hp2
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp2
HG00621.hp1
HG00741.hp2
HG01070.hp2
HG01071.hp1
HG01074.hp2
HG01081.hp2
HG01099.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01346.hp2
HG01361.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02056.hp1
HG02056.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18955.hp1
NA18957.hp1
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18967.hp2
NA18973.hp2
NA18977.hp1
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18990.hp1
NA18994.hp1
NA18994.hp2
NA19000.hp1
NA19000.hp2
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19065.hp1
NA19065.hp2
NA19066.hp2
NA19068.hp2
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19087.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
 intron_variant MODIFIER c.2086-4034T>G
c.2086-4034T>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 19/21 chr17 525772
chr17:525792 A
A
 G
G
 173 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(170): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0032g0114
a0001c0001t0032g0204
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0034g0126
a0001c0001t0034g0162
a0001c0001t0069g0012
a0001c0001t0084g0046
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0097g0199
a0001c0001t0098g0147
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0105g0201
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0108g0148
a0001c0001t0110g0127
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0118g0195
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0122g0160
a0001c0001t0127g0159
a0001c0001t0128g0132
a0001c0001t0134g0154
a0001c0001t0138g0161
a0001c0001t0141g0165
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0022g0085
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0049g0048
a0001c0002t0050g0049
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0078g0041
a0001c0002t0086g0221
a0001c0002t0100g0223
a0001c0002t0109g0222
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0001c0011t0051g0091
a0001c0014t0135g0166
a0001c0015t0126g0149
a0001c0016t0052g0099
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0018g0231
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0085g0184
a0002c0003t0089g0175
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0099g0192
a0002c0003t0104g0208
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0145g0187
a0002c0003t0146g0170
a0002c0003t0148g0174
a0002c0003t0150g0191
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0004c0008t0036g0207
a0004c0008t0103g0227
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
a0006c0012t0129g0140
a0007c0013t0132g0163
 173 HG00099.hp1
HG00099.hp2
HG00280.hp2
others(170): Show 
HG00099.hp1
HG00099.hp2
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp2
HG00621.hp1
HG00741.hp2
HG01070.hp2
HG01071.hp1
HG01074.hp2
HG01081.hp2
HG01099.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01346.hp2
HG01361.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02056.hp1
HG02056.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18955.hp1
NA18957.hp1
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18967.hp2
NA18973.hp2
NA18977.hp1
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18990.hp1
NA18994.hp1
NA18994.hp2
NA19000.hp1
NA19000.hp2
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19065.hp1
NA19065.hp2
NA19066.hp2
NA19068.hp2
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19087.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
 intron_variant MODIFIER c.2086-4054T>C
c.2086-4054T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 19/21 chr17 525792
chr17:525967 A
A
 G
G
 54 a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
others(51): Show 
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0097g0199
a0001c0001t0098g0147
a0001c0001t0105g0201
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0127g0159
a0001c0001t0134g0154
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0048g0089
a0001c0002t0049g0048
a0001c0002t0050g0049
a0001c0002t0058g0052
a0001c0002t0086g0221
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0085g0184
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0104g0208
a0002c0003t0150g0191
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
 54 HG00423.hp2
HG01099.hp1
HG01109.hp2
others(51): Show 
HG00423.hp2
HG01099.hp1
HG01109.hp2
HG01167.hp1
HG01884.hp1
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01981.hp1
HG02040.hp1
HG02056.hp1
HG02083.hp1
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02280.hp1
HG02293.hp1
HG02300.hp1
HG02622.hp1
HG02622.hp2
HG02723.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp2
HG02922.hp2
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03491.hp2
NA18612.hp1
NA18945.hp1
NA18948.hp2
NA18950.hp1
NA18959.hp2
NA18961.hp1
NA18962.hp2
NA18979.hp1
NA18987.hp1
NA19000.hp1
NA19007.hp1
NA19010.hp1
NA19060.hp1
NA19060.hp2
NA19065.hp1
NA19074.hp1
NA19080.hp2
NA19081.hp1
NA19084.hp2
NA19090.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
 intron_variant MODIFIER c.2086-4229T>C
c.2086-4229T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 19/21 chr17 525967
chr17:525981 G
G
 A
A
 30 a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0002t0022g0085
others(27): Show 
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0002t0022g0085
a0001c0002t0055g0084
a0001c0002t0100g0223
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0057g0103
a0002c0003t0099g0192
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0004c0008t0103g0227
 30 HG00280.hp2
HG00438.hp2
HG01515.hp2
others(27): Show 
HG00280.hp2
HG00438.hp2
HG01515.hp2
HG01981.hp2
HG02074.hp1
HG02572.hp2
HG03139.hp1
HG03491.hp1
HG03492.hp1
HG03831.hp2
NA18612.hp2
NA18906.hp2
NA18940.hp1
NA18944.hp2
NA18950.hp2
NA18957.hp1
NA18959.hp1
NA18961.hp2
NA18962.hp1
NA18973.hp2
NA18977.hp1
NA18978.hp1
NA18984.hp1
NA18986.hp2
NA18990.hp1
NA19011.hp2
NA19064.hp1
NA19080.hp1
NA19087.hp2
NA19091.hp2
 intron_variant MODIFIER c.2086-4243C>T
c.2086-4243C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 19/21 chr17 525981
chr17:525996 C
C
 CA
CA
 6 a0001c0001t0002g0210
a0001c0001t0034g0126
a0001c0001t0101g0200
others(3): Show 
a0001c0001t0002g0210
a0001c0001t0034g0126
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0118g0195
a0002c0003t0009g0188
 6 HG01256.hp2
HG01346.hp2
HG02572.hp2
others(3): Show 
HG01256.hp2
HG01346.hp2
HG02572.hp2
HG03139.hp1
NA18940.hp2
NA19080.hp2
 intron_variant MODIFIER c.2086-4259dupT
c.2086-4259dupT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 19/21 chr17 525996
chr17:525996 C
C
 CAA
CAA
 53 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(50): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0034g0162
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0110g0127
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0119g0144
a0001c0001t0121g0143
a0001c0001t0128g0132
a0001c0001t0141g0165
a0001c0002t0109g0222
a0001c0006t0041g0001
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0018g0231
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0140g0194
a0002c0003t0145g0187
a0002c0003t0146g0170
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
a0006c0012t0129g0140
a0007c0013t0132g0163
 53 HG00099.hp1
HG00323.hp2
HG00621.hp1
others(50): Show 
HG00099.hp1
HG00323.hp2
HG00621.hp1
HG00741.hp2
HG01070.hp2
HG01071.hp1
HG01081.hp2
HG01106.hp2
HG01109.hp1
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01255.hp2
HG01361.hp2
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp2
HG01928.hp2
HG02040.hp2
HG02056.hp2
HG02083.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02602.hp2
HG03492.hp2
HG03688.hp2
HG03831.hp1
HG03942.hp1
HG04199.hp1
HG04199.hp2
HG04204.hp1
NA18945.hp2
NA18946.hp1
NA18955.hp1
NA18967.hp2
NA18978.hp2
NA18983.hp2
NA18986.hp1
NA18987.hp2
NA19009.hp2
NA19065.hp2
NA19066.hp2
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19090.hp2
 intron_variant MODIFIER c.2086-4260_2086-425
others(6): Show 
c.2086-4260_2086-4259dupTT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 19/21 chr17 525996
chr17:525996 C
C
 CAAA
CAAA
 11 a0001c0001t0032g0204
a0001c0001t0084g0046
a0001c0001t0120g0211
others(8): Show 
a0001c0001t0032g0204
a0001c0001t0084g0046
a0001c0001t0120g0211
a0001c0001t0122g0160
a0001c0001t0138g0161
a0001c0007t0012g0111
a0001c0015t0126g0149
a0002c0003t0139g0167
a0002c0003t0144g0215
a0002c0003t0148g0174
a0004c0008t0036g0207
 11 HG00423.hp1
HG01257.hp1
HG01258.hp2
others(8): Show 
HG00423.hp1
HG01257.hp1
HG01258.hp2
HG01978.hp2
HG02723.hp1
HG02738.hp2
HG02922.hp1
HG03516.hp1
HG04184.hp2
NA18979.hp2
NA18983.hp1
 intron_variant MODIFIER c.2086-4261_2086-425
others(7): Show 
c.2086-4261_2086-4259dupTTT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 19/21 chr17 525996
chr17:525996 CA
CA
 C
C
 27 a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0134g0154
others(24): Show 
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0134g0154
a0001c0002t0003g0053
a0001c0002t0007g0063
a0001c0002t0010g0057
a0001c0002t0026g0059
a0001c0002t0043g0064
a0001c0002t0065g0093
a0001c0002t0066g0070
a0001c0002t0072g0071
a0001c0002t0082g0069
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0010
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0006t0021g0100
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0057g0103
a0001c0006t0074g0097
a0002c0003t0089g0175
a0002c0010t0038g0156
a0003c0004t0047g0017
a0003c0004t0064g0042
 27 HG00280.hp2
HG01074.hp1
HG01099.hp2
others(24): Show 
HG00280.hp2
HG01074.hp1
HG01099.hp2
HG01256.hp1
HG01515.hp2
HG01517.hp1
HG01891.hp2
HG01981.hp2
HG02074.hp2
HG02135.hp2
HG02602.hp1
HG03492.hp1
NA18747.hp1
NA18944.hp1
NA18946.hp2
NA18960.hp1
NA18962.hp2
NA18977.hp2
NA18984.hp2
NA18994.hp1
NA18994.hp2
NA19009.hp1
NA19010.hp2
NA19091.hp1
NA20129.hp2
NA20300.hp1
NA21309.hp1
 intron_variant MODIFIER c.2086-4259delT
c.2086-4259delT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 19/21 chr17 525996
chr17:526099 G
G
 A
A
 3 a0001c0001t0123g0123
a0004c0008t0124g0229
a0004c0008t0142g0228
a0001c0001t0123g0123
a0004c0008t0124g0229
a0004c0008t0142g0228
 3 NA18990.hp2
NA19066.hp1
NA19081.hp2
NA18990.hp2
NA19066.hp1
NA19081.hp2
 intron_variant MODIFIER c.2086-4361C>T
c.2086-4361C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 19/21 chr17 526099
chr17:526210 T
T
 C
C
 2 a0001c0011t0051g0091
a0001c0016t0052g0099
a0001c0011t0051g0091
a0001c0016t0052g0099
 2 HG01074.hp2
HG01168.hp2
HG01074.hp2
HG01168.hp2
 intron_variant MODIFIER c.2086-4472A>G
c.2086-4472A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 19/21 chr17 526210
chr17:526225 G
G
 GA
GA
 13 a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0043g0064
others(10): Show 
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0043g0064
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0002c0003t0089g0175
a0003c0004t0047g0017
 13 HG02074.hp2
HG02135.hp2
HG02602.hp1
others(10): Show 
HG02074.hp2
HG02135.hp2
HG02602.hp1
NA18747.hp1
NA18944.hp1
NA18960.hp2
NA18994.hp1
NA18994.hp2
NA19000.hp2
NA19009.hp1
NA19010.hp2
NA19084.hp1
NA19091.hp1
 intron_variant MODIFIER c.2086-4488dupT
c.2086-4488dupT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 19/21 chr17 526225
chr17:526235 A
A
 G
G
 1 a0001c0002t0025g0075
a0001c0002t0025g0075
 1 HG01978.hp1
HG01978.hp1
 intron_variant MODIFIER c.2086-4497T>C
c.2086-4497T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 19/21 chr17 526235
chr17:526532 G
G
 A
A
 1 a0003c0004t0047g0017
a0003c0004t0047g0017
 1 NA18994.hp1
NA18994.hp1
 intron_variant MODIFIER c.2086-4794C>T
c.2086-4794C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 19/21 chr17 526532
chr17:526633 TG
TG
 T
T
 67 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(64): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0032g0114
a0001c0001t0032g0204
a0001c0001t0034g0126
a0001c0001t0034g0162
a0001c0001t0069g0012
a0001c0001t0084g0046
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0110g0127
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0122g0160
a0001c0001t0128g0132
a0001c0001t0138g0161
a0001c0001t0141g0165
a0001c0002t0109g0222
a0001c0006t0041g0001
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0001c0015t0126g0149
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0018g0231
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0145g0187
a0002c0003t0146g0170
a0002c0003t0148g0174
a0004c0008t0036g0207
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
a0006c0012t0129g0140
a0007c0013t0132g0163
 67 HG00099.hp1
HG00323.hp2
HG00423.hp1
others(64): Show 
HG00099.hp1
HG00323.hp2
HG00423.hp1
HG00621.hp1
HG01070.hp2
HG01071.hp1
HG01081.hp2
HG01106.hp2
HG01109.hp1
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01361.hp2
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp2
HG01928.hp2
HG01978.hp2
HG02040.hp2
HG02056.hp2
HG02083.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02602.hp2
HG02723.hp1
HG02738.hp2
HG02895.hp1
HG02922.hp1
HG03492.hp2
HG03516.hp1
HG03688.hp2
HG03831.hp1
HG03942.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
NA18940.hp2
NA18945.hp2
NA18946.hp1
NA18955.hp1
NA18967.hp2
NA18978.hp2
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18986.hp1
NA18987.hp2
NA19009.hp2
NA19065.hp2
NA19066.hp2
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19079.hp2
NA19090.hp2
 intron_variant MODIFIER c.2086-4896delC
c.2086-4896delC
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 19/21 chr17 526633
chr17:527005 G
G
 T
T
 54 a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
others(51): Show 
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0097g0199
a0001c0001t0098g0147
a0001c0001t0105g0201
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0127g0159
a0001c0001t0134g0154
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0048g0089
a0001c0002t0049g0048
a0001c0002t0050g0049
a0001c0002t0058g0052
a0001c0002t0086g0221
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0085g0184
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0104g0208
a0002c0003t0150g0191
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
 54 HG00423.hp2
HG01099.hp1
HG01109.hp2
others(51): Show 
HG00423.hp2
HG01099.hp1
HG01109.hp2
HG01167.hp1
HG01884.hp1
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01981.hp1
HG02040.hp1
HG02056.hp1
HG02083.hp1
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02280.hp1
HG02293.hp1
HG02300.hp1
HG02622.hp1
HG02622.hp2
HG02723.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp2
HG02922.hp2
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03491.hp2
NA18612.hp1
NA18945.hp1
NA18948.hp2
NA18950.hp1
NA18959.hp2
NA18961.hp1
NA18962.hp2
NA18979.hp1
NA18987.hp1
NA19000.hp1
NA19007.hp1
NA19010.hp1
NA19060.hp1
NA19060.hp2
NA19065.hp1
NA19074.hp1
NA19080.hp2
NA19081.hp1
NA19084.hp2
NA19090.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
 intron_variant MODIFIER c.2086-5267C>A
c.2086-5267C>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 19/21 chr17 527005
chr17:527032 A
A
 G
G
 1 a0001c0002t0005g0065
a0001c0002t0005g0065
 1 NA18948.hp2
NA18948.hp2
 intron_variant MODIFIER c.2086-5294T>C
c.2086-5294T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 19/21 chr17 527032
chr17:527139 G
G
 A
A
 2 a0001c0011t0051g0091
a0001c0016t0052g0099
a0001c0011t0051g0091
a0001c0016t0052g0099
 2 HG01074.hp2
HG01168.hp2
HG01074.hp2
HG01168.hp2
 intron_variant MODIFIER c.2086-5401C>T
c.2086-5401C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 19/21 chr17 527139
chr17:527226 C
C
 G
G
 10 a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
others(7): Show 
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
 10 HG01071.hp2
HG01074.hp1
HG01081.hp1
others(7): Show 
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01257.hp2
HG01516.hp2
HG01517.hp1
HG02109.hp1
NA18906.hp1
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.2086-5488G>C
c.2086-5488G>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 19/21 chr17 527226
chr17:527274 AAC
AAC
 A
A
 11 a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0033g0205
others(8): Show 
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0097g0199
a0001c0001t0105g0201
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0127g0159
 11 HG01109.hp2
HG01884.hp1
HG01891.hp1
others(8): Show 
HG01109.hp2
HG01884.hp1
HG01891.hp1
HG02622.hp2
HG02818.hp1
HG02886.hp2
HG02895.hp2
HG02922.hp2
HG03139.hp2
HG03225.hp1
NA20129.hp1
 intron_variant MODIFIER c.2086-5538_2086-553
others(6): Show 
c.2086-5538_2086-5537delGT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 19/21 chr17 527274
chr17:527386 A
A
 G
G
 1 a0001c0005t0046g0011
a0001c0005t0046g0011
 1 NA18994.hp2
NA18994.hp2
 intron_variant MODIFIER c.2085+5456T>C
c.2085+5456T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 19/21 chr17 527386
chr17:527480 A
A
 G
G
 2 a0001c0002t0078g0041
a0001c0014t0135g0166
a0001c0002t0078g0041
a0001c0014t0135g0166
 2 HG02572.hp1
HG03516.hp2
HG02572.hp1
HG03516.hp2
 intron_variant MODIFIER c.2085+5362T>C
c.2085+5362T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 19/21 chr17 527480
chr17:527520 C
C
 G
G
 2 a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0079
a0001c0002t0001g0080
 2 HG00280.hp1
HG00323.hp1
HG00280.hp1
HG00323.hp1
 intron_variant MODIFIER c.2085+5322G>C
c.2085+5322G>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 19/21 chr17 527520
chr17:527902 G
G
 A
A
 1 a0002c0003t0099g0192
a0002c0003t0099g0192
 1 HG00438.hp2
HG00438.hp2
 intron_variant MODIFIER c.2085+4940C>T
c.2085+4940C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 19/21 chr17 527902
chr17:528124 T
T
 G
G
 104 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(101): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0032g0114
a0001c0001t0032g0204
a0001c0001t0034g0126
a0001c0001t0034g0162
a0001c0001t0069g0012
a0001c0001t0084g0046
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0108g0148
a0001c0001t0110g0127
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0118g0195
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0122g0160
a0001c0001t0128g0132
a0001c0001t0134g0154
a0001c0001t0138g0161
a0001c0001t0141g0165
a0001c0002t0022g0085
a0001c0002t0055g0084
a0001c0002t0100g0223
a0001c0002t0109g0222
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0001c0015t0126g0149
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0018g0231
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0099g0192
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0145g0187
a0002c0003t0146g0170
a0002c0003t0148g0174
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0004c0008t0036g0207
a0004c0008t0103g0227
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
a0006c0012t0129g0140
a0007c0013t0132g0163
 104 HG00099.hp1
HG00099.hp2
HG00280.hp2
others(101): Show 
HG00099.hp1
HG00099.hp2
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00438.hp2
HG00621.hp1
HG00741.hp2
HG01070.hp2
HG01071.hp1
HG01081.hp2
HG01106.hp2
HG01109.hp1
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01346.hp2
HG01361.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp2
HG01884.hp2
HG01891.hp2
HG01928.hp2
HG01978.hp2
HG01981.hp2
HG02040.hp2
HG02056.hp2
HG02074.hp1
HG02083.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02572.hp2
HG02602.hp2
HG02723.hp1
HG02738.hp2
HG02895.hp1
HG02922.hp1
HG03139.hp1
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
NA18612.hp2
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18944.hp2
NA18945.hp2
NA18946.hp1
NA18950.hp2
NA18955.hp1
NA18957.hp1
NA18959.hp1
NA18961.hp2
NA18962.hp1
NA18967.hp2
NA18973.hp2
NA18977.hp1
NA18978.hp1
NA18978.hp2
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18986.hp1
NA18986.hp2
NA18987.hp2
NA18990.hp1
NA19009.hp2
NA19011.hp2
NA19064.hp1
NA19065.hp2
NA19066.hp2
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19079.hp2
NA19080.hp1
NA19087.hp2
NA19090.hp2
NA19091.hp2
NA20129.hp2
NA20300.hp1
 intron_variant MODIFIER c.2085+4718A>C
c.2085+4718A>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 19/21 chr17 528124
chr17:528225 A
A
 G
G
 1 a0002c0003t0136g0216
a0002c0003t0136g0216
 1 HG03831.hp1
HG03831.hp1
 intron_variant MODIFIER c.2085+4617T>C
c.2085+4617T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 19/21 chr17 528225
chr17:528240 T
T
 G
G
 16 a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0043g0064
others(13): Show 
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0043g0064
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0011t0051g0091
a0001c0016t0052g0099
a0002c0003t0089g0175
a0003c0004t0047g0017
 16 HG01074.hp2
HG01168.hp2
HG02074.hp2
others(13): Show 
HG01074.hp2
HG01168.hp2
HG02074.hp2
HG02135.hp2
HG02602.hp1
NA18747.hp1
NA18944.hp1
NA18960.hp2
NA18994.hp1
NA18994.hp2
NA19000.hp2
NA19009.hp1
NA19010.hp2
NA19084.hp1
NA19087.hp1
NA19091.hp1
 intron_variant MODIFIER c.2085+4602A>C
c.2085+4602A>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 19/21 chr17 528240
chr17:528313 C
C
 A
A
 1 a0001c0002t0001g0045
a0001c0002t0001g0045
 1 HG01070.hp1
HG01070.hp1
 intron_variant MODIFIER c.2085+4529G>T
c.2085+4529G>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 19/21 chr17 528313
chr17:528350 T
T
 C
C
 69 a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
others(66): Show 
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0097g0199
a0001c0001t0098g0147
a0001c0001t0105g0201
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0127g0159
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0049g0048
a0001c0002t0050g0049
a0001c0002t0058g0052
a0001c0002t0078g0041
a0001c0002t0086g0221
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0011t0051g0091
a0001c0014t0135g0166
a0001c0016t0052g0099
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0085g0184
a0002c0003t0089g0175
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0104g0208
a0002c0003t0150g0191
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0047g0017
 69 HG00423.hp2
HG01074.hp2
HG01099.hp1
others(66): Show 
HG00423.hp2
HG01074.hp2
HG01099.hp1
HG01109.hp2
HG01167.hp1
HG01168.hp2
HG01884.hp1
HG01891.hp1
HG01928.hp1
HG01981.hp1
HG02040.hp1
HG02056.hp1
HG02074.hp2
HG02083.hp1
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02280.hp1
HG02293.hp1
HG02300.hp1
HG02572.hp1
HG02602.hp1
HG02622.hp1
HG02622.hp2
HG02723.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp2
HG02922.hp2
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03491.hp2
HG03516.hp2
NA18612.hp1
NA18747.hp1
NA18944.hp1
NA18945.hp1
NA18948.hp2
NA18950.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp1
NA18962.hp2
NA18979.hp1
NA18987.hp1
NA18994.hp1
NA18994.hp2
NA19000.hp1
NA19000.hp2
NA19007.hp1
NA19009.hp1
NA19010.hp1
NA19010.hp2
NA19060.hp1
NA19060.hp2
NA19065.hp1
NA19074.hp1
NA19080.hp2
NA19081.hp1
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19090.hp1
NA19091.hp1
NA20129.hp1
NA20300.hp2
 intron_variant MODIFIER c.2085+4492A>G
c.2085+4492A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 19/21 chr17 528350
chr17:528541 C
C
 T
T
 53 a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
others(50): Show 
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0097g0199
a0001c0001t0098g0147
a0001c0001t0105g0201
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0127g0159
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0048g0089
a0001c0002t0049g0048
a0001c0002t0050g0049
a0001c0002t0058g0052
a0001c0002t0078g0041
a0001c0002t0086g0221
a0001c0014t0135g0166
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0085g0184
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0104g0208
a0002c0003t0150g0191
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
 53 HG00423.hp2
HG01099.hp1
HG01109.hp2
others(50): Show 
HG00423.hp2
HG01099.hp1
HG01109.hp2
HG01167.hp1
HG01884.hp1
HG01891.hp1
HG01928.hp1
HG01981.hp1
HG02040.hp1
HG02056.hp1
HG02083.hp1
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02280.hp1
HG02293.hp1
HG02300.hp1
HG02572.hp1
HG02622.hp1
HG02622.hp2
HG02723.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp2
HG02922.hp2
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03491.hp2
HG03516.hp2
NA18612.hp1
NA18945.hp1
NA18948.hp2
NA18950.hp1
NA18959.hp2
NA18961.hp1
NA18962.hp2
NA18979.hp1
NA18987.hp1
NA19000.hp1
NA19007.hp1
NA19010.hp1
NA19060.hp1
NA19060.hp2
NA19065.hp1
NA19074.hp1
NA19080.hp2
NA19081.hp1
NA19084.hp2
NA19090.hp1
NA20129.hp1
NA20300.hp2
 intron_variant MODIFIER c.2085+4301G>A
c.2085+4301G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 19/21 chr17 528541
chr17:528595 CTT
CTT
 C
C
 25 a0001c0001t0030g0119
a0001c0001t0031g0153
a0001c0001t0031g0155
others(22): Show 
a0001c0001t0030g0119
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0034g0162
a0001c0001t0134g0154
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0022g0085
a0001c0002t0043g0064
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0011t0051g0091
a0001c0016t0052g0099
a0002c0003t0089g0175
a0002c0003t0146g0170
a0003c0004t0022g0004
a0003c0004t0047g0017
a0005c0009t0137g0189
 25 HG01074.hp2
HG01106.hp2
HG01168.hp2
others(22): Show 
HG01074.hp2
HG01106.hp2
HG01168.hp2
HG01891.hp2
HG02074.hp2
HG02135.hp2
HG02280.hp2
HG02602.hp1
NA18747.hp1
NA18940.hp1
NA18944.hp1
NA18955.hp1
NA18960.hp2
NA18961.hp2
NA18994.hp1
NA18994.hp2
NA19000.hp2
NA19009.hp1
NA19010.hp2
NA19084.hp1
NA19087.hp1
NA19090.hp2
NA19091.hp1
NA20129.hp2
NA20300.hp1
 intron_variant MODIFIER c.2085+4245_2085+424
others(6): Show 
c.2085+4245_2085+4246delAA
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 19/21 chr17 528595
chr17:528595 CTTT
CTTT
 C
C
 155 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(152): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0030g0120
a0001c0001t0032g0114
a0001c0001t0032g0204
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0034g0126
a0001c0001t0069g0012
a0001c0001t0084g0046
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0097g0199
a0001c0001t0098g0147
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0105g0201
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0108g0148
a0001c0001t0110g0127
a0001c0001t0112g0157
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0118g0195
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0122g0160
a0001c0001t0127g0159
a0001c0001t0128g0132
a0001c0001t0138g0161
a0001c0001t0141g0165
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0048g0089
a0001c0002t0049g0048
a0001c0002t0050g0049
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0078g0041
a0001c0002t0086g0221
a0001c0002t0109g0222
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0001c0014t0135g0166
a0001c0015t0126g0149
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0018g0231
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0085g0184
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0099g0192
a0002c0003t0104g0208
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0145g0187
a0002c0003t0148g0174
a0002c0003t0150g0191
a0002c0010t0038g0156
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
a0004c0008t0036g0207
a0004c0008t0103g0227
a0005c0009t0130g0178
a0005c0009t0147g0177
a0006c0012t0129g0140
a0007c0013t0132g0163
 155 HG00099.hp1
HG00099.hp2
HG00280.hp2
others(152): Show 
HG00099.hp1
HG00099.hp2
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp2
HG00621.hp1
HG00741.hp2
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp2
HG01346.hp2
HG01361.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01928.hp1
HG01928.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02056.hp1
HG02056.hp2
HG02074.hp1
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02280.hp1
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02922.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
NA18612.hp1
NA18612.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18957.hp1
NA18959.hp1
NA18959.hp2
NA18961.hp1
NA18962.hp1
NA18962.hp2
NA18967.hp2
NA18973.hp2
NA18977.hp1
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18990.hp1
NA19000.hp1
NA19007.hp1
NA19009.hp2
NA19010.hp1
NA19011.hp2
NA19060.hp1
NA19060.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp2
NA19068.hp2
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19084.hp2
NA19087.hp2
NA19090.hp1
NA20129.hp1
NA20300.hp2
NA20805.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.2085+4244_2085+424
others(7): Show 
c.2085+4244_2085+4246delAAA
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 19/21 chr17 528595
chr17:529068 T
T
 C
C
 4 a0001c0001t0002g0137
a0001c0001t0016g0124
a0001c0001t0016g0125
others(1): Show 
a0001c0001t0002g0137
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0110g0127
 4 HG02132.hp2
NA19009.hp2
NA19065.hp2
others(1): Show 
HG02132.hp2
NA19009.hp2
NA19065.hp2
NA19068.hp2
 intron_variant MODIFIER c.2085+3774A>G
c.2085+3774A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 19/21 chr17 529068
chr17:529069 G
G
 A
A
 2 a0001c0001t0002g0137
a0001c0001t0110g0127
a0001c0001t0002g0137
a0001c0001t0110g0127
 2 NA19009.hp2
NA19065.hp2
NA19009.hp2
NA19065.hp2
 intron_variant MODIFIER c.2085+3773C>T
c.2085+3773C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 19/21 chr17 529069
chr17:529212 A
A
 T
T
 1 a0002c0003t0090g0171
a0002c0003t0090g0171
 1 NA18612.hp1
NA18612.hp1
 intron_variant MODIFIER c.2085+3630T>A
c.2085+3630T>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 19/21 chr17 529212
chr17:529231 T
T
 C
C
 51 a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
others(48): Show 
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0097g0199
a0001c0001t0098g0147
a0001c0001t0105g0201
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0127g0159
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0048g0089
a0001c0002t0049g0048
a0001c0002t0050g0049
a0001c0002t0058g0052
a0001c0002t0086g0221
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0085g0184
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0104g0208
a0002c0003t0150g0191
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
 51 HG00423.hp2
HG01099.hp1
HG01109.hp2
others(48): Show 
HG00423.hp2
HG01099.hp1
HG01109.hp2
HG01167.hp1
HG01884.hp1
HG01891.hp1
HG01928.hp1
HG01981.hp1
HG02040.hp1
HG02056.hp1
HG02083.hp1
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02280.hp1
HG02293.hp1
HG02300.hp1
HG02622.hp1
HG02622.hp2
HG02723.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp2
HG02922.hp2
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03491.hp2
NA18612.hp1
NA18945.hp1
NA18948.hp2
NA18950.hp1
NA18959.hp2
NA18961.hp1
NA18962.hp2
NA18979.hp1
NA18987.hp1
NA19000.hp1
NA19007.hp1
NA19010.hp1
NA19060.hp1
NA19060.hp2
NA19065.hp1
NA19074.hp1
NA19080.hp2
NA19081.hp1
NA19084.hp2
NA19090.hp1
NA20129.hp1
NA20300.hp2
 intron_variant MODIFIER c.2085+3611A>G
c.2085+3611A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 19/21 chr17 529231
chr17:529382 A
A
 G
G
 31 a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0002t0022g0085
others(28): Show 
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0002t0022g0085
a0001c0002t0055g0084
a0001c0002t0100g0223
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0053g0102
a0001c0006t0057g0103
a0002c0003t0099g0192
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0004c0008t0103g0227
 31 HG00099.hp2
HG00280.hp2
HG00438.hp2
others(28): Show 
HG00099.hp2
HG00280.hp2
HG00438.hp2
HG01515.hp2
HG01981.hp2
HG02074.hp1
HG02572.hp2
HG03139.hp1
HG03491.hp1
HG03492.hp1
HG03831.hp2
NA18612.hp2
NA18906.hp2
NA18940.hp1
NA18944.hp2
NA18950.hp2
NA18957.hp1
NA18959.hp1
NA18961.hp2
NA18962.hp1
NA18973.hp2
NA18977.hp1
NA18978.hp1
NA18984.hp1
NA18986.hp2
NA18990.hp1
NA19011.hp2
NA19064.hp1
NA19080.hp1
NA19087.hp2
NA19091.hp2
 intron_variant MODIFIER c.2085+3460T>C
c.2085+3460T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 19/21 chr17 529382
chr17:529398 T
T
 TCA
TCA
 47 a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0084g0046
others(44): Show 
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0084g0046
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0134g0154
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0022g0085
a0001c0002t0055g0084
a0001c0002t0078g0041
a0001c0002t0100g0223
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0014t0135g0166
a0002c0003t0099g0192
a0002c0003t0148g0174
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0022g0004
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
a0004c0008t0103g0227
 47 HG00099.hp2
HG00280.hp2
HG00438.hp2
others(44): Show 
HG00099.hp2
HG00280.hp2
HG00438.hp2
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01257.hp2
HG01515.hp2
HG01516.hp2
HG01517.hp1
HG01891.hp2
HG01981.hp2
HG02074.hp1
HG02109.hp1
HG02572.hp1
HG02572.hp2
HG03139.hp1
HG03491.hp1
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03831.hp2
NA18612.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18944.hp2
NA18957.hp1
NA18959.hp1
NA18961.hp2
NA18962.hp1
NA18973.hp2
NA18977.hp1
NA18978.hp1
NA18979.hp2
NA18984.hp1
NA18986.hp2
NA18990.hp1
NA19011.hp2
NA19064.hp1
NA19080.hp1
NA19087.hp2
NA19091.hp2
NA20129.hp2
NA20300.hp1
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.2085+3442_2085+344
others(6): Show 
c.2085+3442_2085+3443dupTG
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 19/21 chr17 529398
chr17:529398 T
T
 TCACA
TCACA
 57 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(54): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0032g0114
a0001c0001t0032g0204
a0001c0001t0034g0126
a0001c0001t0034g0162
a0001c0001t0069g0012
a0001c0001t0107g0212
a0001c0001t0110g0127
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0116g0138
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0122g0160
a0001c0001t0128g0132
a0001c0001t0138g0161
a0001c0001t0141g0165
a0001c0002t0109g0222
a0001c0006t0041g0001
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0015t0126g0149
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0018g0231
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0145g0187
a0002c0003t0146g0170
a0003c0004t0006g0033
a0004c0008t0036g0207
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
a0006c0012t0129g0140
a0007c0013t0132g0163
 57 HG00099.hp1
HG00323.hp2
HG00423.hp1
others(54): Show 
HG00099.hp1
HG00323.hp2
HG00423.hp1
HG00621.hp1
HG00741.hp2
HG01070.hp2
HG01071.hp1
HG01106.hp2
HG01109.hp1
HG01175.hp1
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01361.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp2
HG02040.hp2
HG02056.hp2
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02280.hp2
HG02602.hp2
HG02723.hp1
HG02738.hp2
HG02895.hp1
HG02922.hp1
HG03688.hp2
HG03831.hp1
HG03942.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
NA18940.hp2
NA18945.hp2
NA18946.hp1
NA18950.hp2
NA18955.hp1
NA18967.hp2
NA18978.hp2
NA18983.hp1
NA18983.hp2
NA18986.hp1
NA18987.hp2
NA19009.hp2
NA19065.hp2
NA19066.hp2
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19079.hp2
NA19090.hp2
 intron_variant MODIFIER c.2085+3440_2085+344
others(8): Show 
c.2085+3440_2085+3443dupTGTG
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 19/21 chr17 529398
chr17:529398 T
T
 TCACACA
TCACACA
 8 a0001c0001t0115g0136
a0001c0001t0117g0230
a0001c0007t0012g0108
others(5): Show 
a0001c0001t0115g0136
a0001c0001t0117g0230
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
 8 HG01081.hp2
HG01175.hp2
HG01192.hp2
others(5): Show 
HG01081.hp2
HG01175.hp2
HG01192.hp2
HG01496.hp2
HG01978.hp2
HG02293.hp2
HG02300.hp2
HG03492.hp2
 intron_variant MODIFIER c.2085+3438_2085+344
others(10): Show 
c.2085+3438_2085+3443dupTGTGTG
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 19/21 chr17 529398
chr17:529398 TCA
TCA
 T
T
 64 a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
others(61): Show 
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0097g0199
a0001c0001t0098g0147
a0001c0001t0105g0201
a0001c0001t0111g0164
a0001c0001t0127g0159
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0049g0048
a0001c0002t0050g0049
a0001c0002t0058g0052
a0001c0002t0086g0221
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0011t0051g0091
a0001c0016t0052g0099
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0085g0184
a0002c0003t0089g0175
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0104g0208
a0002c0003t0150g0191
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0047g0017
 64 HG00423.hp2
HG01074.hp2
HG01099.hp1
others(61): Show 
HG00423.hp2
HG01074.hp2
HG01099.hp1
HG01109.hp2
HG01167.hp1
HG01168.hp2
HG01884.hp1
HG01891.hp1
HG01928.hp1
HG01981.hp1
HG02040.hp1
HG02056.hp1
HG02074.hp2
HG02083.hp1
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02280.hp1
HG02293.hp1
HG02300.hp1
HG02602.hp1
HG02622.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp2
HG02922.hp2
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03491.hp2
NA18612.hp1
NA18747.hp1
NA18944.hp1
NA18945.hp1
NA18948.hp2
NA18950.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp1
NA18962.hp2
NA18979.hp1
NA18987.hp1
NA18994.hp1
NA18994.hp2
NA19000.hp1
NA19000.hp2
NA19007.hp1
NA19009.hp1
NA19010.hp1
NA19010.hp2
NA19060.hp1
NA19060.hp2
NA19065.hp1
NA19074.hp1
NA19080.hp2
NA19081.hp1
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19090.hp1
NA19091.hp1
NA20300.hp2
 intron_variant MODIFIER c.2085+3442_2085+344
others(6): Show 
c.2085+3442_2085+3443delTG
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 19/21 chr17 529398
chr17:529527 T
T
 C
C
 1 a0001c0014t0135g0166
a0001c0014t0135g0166
 1 HG02572.hp1
HG02572.hp1
 intron_variant MODIFIER c.2085+3315A>G
c.2085+3315A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 19/21 chr17 529527
chr17:529564 C
C
 G
G
 2 a0001c0002t0078g0041
a0001c0014t0135g0166
a0001c0002t0078g0041
a0001c0014t0135g0166
 2 HG02572.hp1
HG03516.hp2
HG02572.hp1
HG03516.hp2
 intron_variant MODIFIER c.2085+3278G>C
c.2085+3278G>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 19/21 chr17 529564
chr17:529708 T
T
 C
C
 2 a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0026g0059
a0001c0002t0026g0060
 2 HG01256.hp1
HG01258.hp1
HG01256.hp1
HG01258.hp1
 intron_variant MODIFIER c.2085+3134A>G
c.2085+3134A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 19/21 chr17 529708
chr17:529761 G
G
 A
A
 173 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(170): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0032g0114
a0001c0001t0032g0204
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0034g0126
a0001c0001t0034g0162
a0001c0001t0069g0012
a0001c0001t0084g0046
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0097g0199
a0001c0001t0098g0147
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0105g0201
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0108g0148
a0001c0001t0110g0127
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0118g0195
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0122g0160
a0001c0001t0127g0159
a0001c0001t0128g0132
a0001c0001t0134g0154
a0001c0001t0138g0161
a0001c0001t0141g0165
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0022g0085
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0049g0048
a0001c0002t0050g0049
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0078g0041
a0001c0002t0086g0221
a0001c0002t0100g0223
a0001c0002t0109g0222
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0001c0011t0051g0091
a0001c0014t0135g0166
a0001c0015t0126g0149
a0001c0016t0052g0099
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0018g0231
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0085g0184
a0002c0003t0089g0175
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0099g0192
a0002c0003t0104g0208
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0145g0187
a0002c0003t0146g0170
a0002c0003t0148g0174
a0002c0003t0150g0191
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0004c0008t0036g0207
a0004c0008t0103g0227
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
a0006c0012t0129g0140
a0007c0013t0132g0163
 173 HG00099.hp1
HG00099.hp2
HG00280.hp2
others(170): Show 
HG00099.hp1
HG00099.hp2
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp2
HG00621.hp1
HG00741.hp2
HG01070.hp2
HG01071.hp1
HG01074.hp2
HG01081.hp2
HG01099.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01346.hp2
HG01361.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02056.hp1
HG02056.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18955.hp1
NA18957.hp1
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18967.hp2
NA18973.hp2
NA18977.hp1
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18990.hp1
NA18994.hp1
NA18994.hp2
NA19000.hp1
NA19000.hp2
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19065.hp1
NA19065.hp2
NA19066.hp2
NA19068.hp2
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19087.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
 intron_variant MODIFIER c.2085+3081C>T
c.2085+3081C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 19/21 chr17 529761
chr17:529869 C
C
 CA
CA
 62 a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
others(59): Show 
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0017g0158
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0087g0198
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0098g0147
a0001c0001t0105g0201
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0127g0159
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0049g0048
a0001c0002t0050g0049
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0086g0221
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0016t0052g0099
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0085g0184
a0002c0003t0089g0175
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0104g0208
a0002c0003t0148g0174
a0002c0003t0150g0191
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0047g0017
 62 HG00423.hp2
HG00741.hp1
HG01099.hp1
others(59): Show 
HG00423.hp2
HG00741.hp1
HG01099.hp1
HG01109.hp2
HG01167.hp1
HG01168.hp2
HG01891.hp1
HG01928.hp1
HG01981.hp1
HG02040.hp1
HG02074.hp2
HG02083.hp1
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02280.hp1
HG02293.hp1
HG02300.hp1
HG02602.hp1
HG02622.hp1
HG02723.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp2
HG03225.hp1
HG03225.hp2
HG03491.hp2
NA18612.hp1
NA18747.hp1
NA18906.hp2
NA18944.hp1
NA18945.hp1
NA18948.hp2
NA18950.hp1
NA18959.hp2
NA18961.hp1
NA18962.hp2
NA18979.hp1
NA18979.hp2
NA18987.hp1
NA18994.hp1
NA18994.hp2
NA19000.hp1
NA19007.hp1
NA19009.hp1
NA19010.hp1
NA19010.hp2
NA19060.hp1
NA19060.hp2
NA19065.hp1
NA19074.hp1
NA19080.hp2
NA19081.hp1
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19090.hp1
NA19091.hp1
NA20129.hp1
NA20300.hp2
 intron_variant MODIFIER c.2085+2972dupT
c.2085+2972dupT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 19/21 chr17 529869
chr17:529869 C
C
 CAA
CAA
 9 a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0088g0152
others(6): Show 
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0088g0152
a0001c0001t0097g0199
a0001c0002t0078g0041
a0001c0005t0042g0044
a0001c0011t0051g0091
a0001c0014t0135g0166
a0002c0003t0009g0218
 9 HG01074.hp2
HG01884.hp1
HG02056.hp1
others(6): Show 
HG01074.hp2
HG01884.hp1
HG02056.hp1
HG02572.hp1
HG02622.hp2
HG02922.hp2
HG03139.hp2
HG03516.hp2
NA19000.hp2
 intron_variant MODIFIER c.2085+2971_2085+297
others(6): Show 
c.2085+2971_2085+2972dupTT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 19/21 chr17 529869
chr17:530026 C
C
 CA
CA
 16 a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0043g0064
others(13): Show 
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0043g0064
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0011t0051g0091
a0001c0016t0052g0099
a0002c0003t0089g0175
a0003c0004t0047g0017
 16 HG01074.hp2
HG01168.hp2
HG02074.hp2
others(13): Show 
HG01074.hp2
HG01168.hp2
HG02074.hp2
HG02135.hp2
HG02602.hp1
NA18747.hp1
NA18944.hp1
NA18960.hp2
NA18994.hp1
NA18994.hp2
NA19000.hp2
NA19009.hp1
NA19010.hp2
NA19084.hp1
NA19087.hp1
NA19091.hp1
 intron_variant MODIFIER c.2085+2815dupT
c.2085+2815dupT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 19/21 chr17 530026
chr17:530143 C
C
 CT
CT
 36 a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
others(33): Show 
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0030g0119
a0001c0001t0094g0129
a0001c0001t0098g0147
a0001c0001t0113g0122
a0001c0002t0001g0090
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0048g0089
a0001c0002t0058g0052
a0001c0007t0023g0109
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0027g0181
a0002c0003t0085g0184
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0104g0208
a0002c0003t0150g0191
a0003c0004t0003g0036
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
 36 HG00423.hp2
HG00741.hp2
HG01099.hp1
others(33): Show 
HG00423.hp2
HG00741.hp2
HG01099.hp1
HG01192.hp2
HG01361.hp2
HG01928.hp1
HG01981.hp1
HG02040.hp1
HG02056.hp1
HG02083.hp1
HG02109.hp1
HG02280.hp2
HG02293.hp1
HG02300.hp1
HG02738.hp1
HG02818.hp2
HG03491.hp2
NA18612.hp1
NA18945.hp1
NA18948.hp2
NA18950.hp1
NA18959.hp2
NA18961.hp1
NA18962.hp2
NA18979.hp1
NA18987.hp1
NA19007.hp1
NA19010.hp1
NA19060.hp1
NA19060.hp2
NA19065.hp1
NA19074.hp1
NA19080.hp2
NA19081.hp1
NA19084.hp2
NA19090.hp1
 intron_variant MODIFIER c.2085+2698dupA
c.2085+2698dupA
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 19/21 chr17 530143
chr17:530143 CT
CT
 C
C
 75 a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0032g0114
others(72): Show 
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0032g0114
a0001c0001t0032g0204
a0001c0001t0034g0126
a0001c0001t0034g0162
a0001c0001t0084g0046
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0108g0148
a0001c0001t0118g0195
a0001c0001t0122g0160
a0001c0001t0134g0154
a0001c0001t0138g0161
a0001c0001t0141g0165
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0022g0085
a0001c0002t0043g0064
a0001c0002t0055g0084
a0001c0002t0100g0223
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0015t0126g0149
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0018g0231
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0089g0175
a0002c0003t0093g0173
a0002c0003t0099g0192
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0145g0187
a0002c0003t0146g0170
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0022g0004
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0061g0031
a0003c0004t0063g0034
a0004c0008t0036g0207
a0004c0008t0103g0227
a0005c0009t0130g0178
a0005c0009t0147g0177
a0007c0013t0132g0163
 75 HG00099.hp2
HG00280.hp2
HG00323.hp2
others(72): Show 
HG00099.hp2
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00438.hp2
HG00621.hp1
HG01070.hp2
HG01071.hp1
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01175.hp1
HG01192.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01346.hp2
HG01515.hp2
HG01891.hp2
HG01981.hp2
HG02074.hp1
HG02074.hp2
HG02129.hp1
HG02132.hp1
HG02135.hp2
HG02572.hp2
HG02602.hp1
HG02723.hp1
HG02738.hp2
HG02895.hp1
HG02922.hp1
HG03139.hp1
HG03491.hp1
HG03492.hp1
HG03516.hp1
HG03831.hp1
HG03942.hp1
HG04199.hp1
HG04204.hp1
NA18612.hp2
NA18747.hp1
NA18906.hp2
NA18940.hp1
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18957.hp1
NA18959.hp1
NA18960.hp2
NA18961.hp2
NA18962.hp1
NA18973.hp2
NA18977.hp1
NA18978.hp1
NA18983.hp1
NA18984.hp1
NA18986.hp1
NA18986.hp2
NA18990.hp1
NA18994.hp1
NA18994.hp2
NA19009.hp1
NA19010.hp2
NA19011.hp2
NA19064.hp1
NA19066.hp2
NA19080.hp1
NA19084.hp1
NA19087.hp1
NA19087.hp2
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA20129.hp2
NA20300.hp1
 intron_variant MODIFIER c.2085+2698delA
c.2085+2698delA
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 19/21 chr17 530143
chr17:530389 GTGA
GTGA
 G
G
 2 a0001c0002t0022g0085
a0003c0004t0022g0004
a0001c0002t0022g0085
a0003c0004t0022g0004
 2 NA18940.hp1
NA18961.hp2
NA18940.hp1
NA18961.hp2
 intron_variant MODIFIER c.2085+2450_2085+245
others(7): Show 
c.2085+2450_2085+2452delTCA
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 19/21 chr17 530389
chr17:530393 T
T
 G
G
 2 a0001c0002t0022g0085
a0003c0004t0022g0004
a0001c0002t0022g0085
a0003c0004t0022g0004
 2 NA18940.hp1
NA18961.hp2
NA18940.hp1
NA18961.hp2
 intron_variant MODIFIER c.2085+2449A>C
c.2085+2449A>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 19/21 chr17 530393
chr17:530952 C
C
 A
A
 1 a0004c0008t0133g0232
a0004c0008t0133g0232
 1 NA19011.hp1
NA19011.hp1
 intron_variant MODIFIER c.2085+1890G>T
c.2085+1890G>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 19/21 chr17 530952
chr17:530984 G
G
 A
A
 1 a0001c0001t0121g0143
a0001c0001t0121g0143
 1 HG04199.hp2
HG04199.hp2
 intron_variant MODIFIER c.2085+1858C>T
c.2085+1858C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 19/21 chr17 530984
chr17:531009 T
T
 C
C
 69 a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
others(66): Show 
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0097g0199
a0001c0001t0098g0147
a0001c0001t0105g0201
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0127g0159
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0049g0048
a0001c0002t0050g0049
a0001c0002t0058g0052
a0001c0002t0078g0041
a0001c0002t0086g0221
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0011t0051g0091
a0001c0014t0135g0166
a0001c0016t0052g0099
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0085g0184
a0002c0003t0089g0175
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0104g0208
a0002c0003t0150g0191
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0047g0017
 69 HG00423.hp2
HG01074.hp2
HG01099.hp1
others(66): Show 
HG00423.hp2
HG01074.hp2
HG01099.hp1
HG01109.hp2
HG01167.hp1
HG01168.hp2
HG01884.hp1
HG01891.hp1
HG01928.hp1
HG01981.hp1
HG02040.hp1
HG02056.hp1
HG02074.hp2
HG02083.hp1
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02280.hp1
HG02293.hp1
HG02300.hp1
HG02572.hp1
HG02602.hp1
HG02622.hp1
HG02622.hp2
HG02723.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp2
HG02922.hp2
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03491.hp2
HG03516.hp2
NA18612.hp1
NA18747.hp1
NA18944.hp1
NA18945.hp1
NA18948.hp2
NA18950.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp1
NA18962.hp2
NA18979.hp1
NA18987.hp1
NA18994.hp1
NA18994.hp2
NA19000.hp1
NA19000.hp2
NA19007.hp1
NA19009.hp1
NA19010.hp1
NA19010.hp2
NA19060.hp1
NA19060.hp2
NA19065.hp1
NA19074.hp1
NA19080.hp2
NA19081.hp1
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19090.hp1
NA19091.hp1
NA20129.hp1
NA20300.hp2
 intron_variant MODIFIER c.2085+1833A>G
c.2085+1833A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 19/21 chr17 531009
chr17:531125 C
C
 G
G
 1 a0001c0001t0084g0046
a0001c0001t0084g0046
 1 HG03516.hp1
HG03516.hp1
 intron_variant MODIFIER c.2085+1717G>C
c.2085+1717G>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 19/21 chr17 531125
chr17:531183 C
C
 A
A
 4 a0002c0003t0036g0176
a0002c0003t0131g0193
a0002c0003t0140g0194
others(1): Show 
a0002c0003t0036g0176
a0002c0003t0131g0193
a0002c0003t0140g0194
a0002c0003t0144g0215
 4 HG00323.hp2
HG01070.hp2
HG01071.hp1
others(1): Show 
HG00323.hp2
HG01070.hp2
HG01071.hp1
HG02738.hp2
 intron_variant MODIFIER c.2085+1659G>T
c.2085+1659G>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 19/21 chr17 531183
chr17:531212 C
C
 T
T
 2 a0001c0001t0015g0131
a0001c0001t0094g0129
a0001c0001t0015g0131
a0001c0001t0094g0129
 2 NA18950.hp1
NA19060.hp2
NA18950.hp1
NA19060.hp2
 intron_variant MODIFIER c.2085+1630G>A
c.2085+1630G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 19/21 chr17 531212
chr17:531370 C
C
 A
A
 33 a0001c0001t0034g0126
a0001c0001t0101g0200
a0001c0001t0102g0220
others(30): Show 
a0001c0001t0034g0126
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0002t0022g0085
a0001c0002t0055g0084
a0001c0002t0100g0223
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0002c0003t0099g0192
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0004c0008t0103g0227
 33 HG00099.hp2
HG00280.hp2
HG00438.hp2
others(30): Show 
HG00099.hp2
HG00280.hp2
HG00438.hp2
HG01175.hp1
HG01256.hp2
HG01515.hp2
HG01981.hp2
HG02074.hp1
HG02572.hp2
HG03139.hp1
HG03491.hp1
HG03492.hp1
HG03831.hp2
NA18612.hp2
NA18906.hp2
NA18940.hp1
NA18944.hp2
NA18950.hp2
NA18957.hp1
NA18959.hp1
NA18961.hp2
NA18962.hp1
NA18973.hp2
NA18977.hp1
NA18978.hp1
NA18984.hp1
NA18986.hp2
NA18990.hp1
NA19011.hp2
NA19064.hp1
NA19080.hp1
NA19087.hp2
NA19091.hp2
 intron_variant MODIFIER c.2085+1472G>T
c.2085+1472G>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 19/21 chr17 531370
chr17:531491 A
A
 G
G
 3 a0001c0001t0034g0126
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0001t0034g0126
a0001c0006t0040g0002
a0001c0006t0041g0001
 3 HG01175.hp1
HG01256.hp2
HG01981.hp2
HG01175.hp1
HG01256.hp2
HG01981.hp2
 intron_variant MODIFIER c.2085+1351T>C
c.2085+1351T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 19/21 chr17 531491
chr17:531687 G
G
 A
A
 1 a0001c0002t0013g0083
a0001c0002t0013g0083
 1 NA20805.hp2
NA20805.hp2
 intron_variant MODIFIER c.2085+1155C>T
c.2085+1155C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 19/21 chr17 531687
chr17:531697 A
A
 G
G
 1 a0002c0010t0038g0156
a0002c0010t0038g0156
 1 NA21309.hp1
NA21309.hp1
 intron_variant MODIFIER c.2085+1145T>C
c.2085+1145T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 19/21 chr17 531697
chr17:531773 C
C
 CT
CT
 91 a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
others(88): Show 
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0017g0158
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0030g0120
a0001c0001t0032g0114
a0001c0001t0032g0204
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0034g0162
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0097g0199
a0001c0001t0098g0147
a0001c0001t0105g0201
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0122g0160
a0001c0001t0127g0159
a0001c0001t0138g0161
a0001c0001t0141g0165
a0001c0002t0001g0090
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0050g0049
a0001c0002t0058g0052
a0001c0002t0086g0221
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0010
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0007t0011g0105
a0001c0011t0051g0091
a0001c0014t0135g0166
a0001c0015t0126g0149
a0001c0016t0052g0099
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0018g0231
a0002c0003t0036g0176
a0002c0003t0037g0168
a0002c0003t0089g0175
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0104g0208
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0145g0187
a0002c0003t0146g0170
a0002c0003t0148g0174
a0003c0004t0003g0015
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0047g0017
a0004c0008t0035g0203
a0004c0008t0036g0207
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
a0007c0013t0132g0163
 91 HG00323.hp2
HG00423.hp1
HG00423.hp2
others(88): Show 
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00621.hp1
HG00741.hp1
HG01070.hp2
HG01071.hp1
HG01074.hp2
HG01099.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01168.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01928.hp1
HG02040.hp1
HG02056.hp1
HG02074.hp2
HG02083.hp1
HG02129.hp1
HG02132.hp1
HG02135.hp2
HG02145.hp1
HG02280.hp1
HG02293.hp1
HG02300.hp1
HG02572.hp1
HG02602.hp1
HG02622.hp1
HG02622.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03831.hp1
HG03942.hp1
HG04184.hp1
HG04199.hp1
HG04204.hp1
NA18612.hp1
NA18747.hp1
NA18944.hp1
NA18945.hp1
NA18946.hp1
NA18948.hp2
NA18950.hp1
NA18955.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp1
NA18962.hp1
NA18962.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18987.hp1
NA18994.hp1
NA18994.hp2
NA19007.hp1
NA19009.hp1
NA19010.hp1
NA19010.hp2
NA19060.hp1
NA19060.hp2
NA19065.hp1
NA19066.hp2
NA19080.hp2
NA19081.hp1
NA19084.hp1
NA19084.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA20129.hp1
NA20300.hp2
 intron_variant MODIFIER c.2085+1068dupA
c.2085+1068dupA
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 19/21 chr17 531773
chr17:531773 C
C
 CTT
CTT
 75 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(72): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0030g0119
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0069g0012
a0001c0001t0084g0046
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0110g0127
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0118g0195
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0128g0132
a0001c0001t0134g0154
a0001c0002t0005g0061
a0001c0002t0022g0085
a0001c0002t0049g0048
a0001c0002t0078g0041
a0001c0002t0100g0223
a0001c0005t0020g0005
a0001c0005t0042g0044
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0062g0104
a0001c0007t0070g0112
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0099g0192
a0002c0003t0150g0191
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0004c0008t0103g0227
a0006c0012t0129g0140
 75 HG00099.hp2
HG00280.hp2
HG00438.hp2
others(72): Show 
HG00099.hp2
HG00280.hp2
HG00438.hp2
HG00741.hp2
HG01081.hp2
HG01175.hp2
HG01255.hp2
HG01346.hp2
HG01361.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01891.hp2
HG01928.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp2
HG02056.hp2
HG02083.hp2
HG02109.hp2
HG02129.hp2
HG02132.hp2
HG02135.hp1
HG02145.hp2
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02572.hp2
HG02602.hp2
HG03139.hp1
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03688.hp2
HG03831.hp2
HG04184.hp2
HG04199.hp2
NA18612.hp2
NA18940.hp1
NA18940.hp2
NA18944.hp2
NA18945.hp2
NA18950.hp2
NA18959.hp1
NA18961.hp2
NA18967.hp2
NA18973.hp2
NA18977.hp1
NA18978.hp1
NA18978.hp2
NA18983.hp2
NA18984.hp1
NA18986.hp2
NA18987.hp2
NA18990.hp1
NA19000.hp1
NA19000.hp2
NA19009.hp2
NA19011.hp2
NA19064.hp1
NA19065.hp2
NA19068.hp2
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp2
NA19080.hp1
NA19087.hp1
NA19087.hp2
NA19091.hp2
NA20129.hp2
NA20300.hp1
 intron_variant MODIFIER c.2085+1067_2085+106
others(6): Show 
c.2085+1067_2085+1068dupAA
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 19/21 chr17 531773
chr17:531773 C
C
 CTTT
CTTT
 8 a0001c0001t0034g0126
a0001c0001t0108g0148
a0001c0002t0055g0084
others(5): Show 
a0001c0001t0034g0126
a0001c0001t0108g0148
a0001c0002t0055g0084
a0001c0002t0109g0222
a0001c0006t0041g0001
a0001c0007t0023g0109
a0003c0004t0004g0014
a0003c0004t0004g0019
 8 HG00099.hp1
HG01175.hp1
HG01192.hp1
others(5): Show 
HG00099.hp1
HG01175.hp1
HG01192.hp1
HG01192.hp2
HG01256.hp2
HG02074.hp1
NA18906.hp2
NA18957.hp1
 intron_variant MODIFIER c.2085+1066_2085+106
others(7): Show 
c.2085+1066_2085+1068dupAAA
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 19/21 chr17 531773
chr17:531945 G
G
 GT
GT
 23 a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
others(20): Show 
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0087g0198
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0097g0199
a0001c0001t0098g0147
a0001c0001t0105g0201
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0127g0159
a0001c0002t0007g0062
a0001c0002t0014g0055
a0001c0002t0014g0077
a0001c0002t0050g0049
a0001c0002t0076g0050
a0001c0005t0080g0092
a0002c0003t0008g0183
a0002c0003t0027g0169
a0002c0003t0093g0173
a0004c0008t0035g0203
a0004c0008t0124g0229
 23 HG01109.hp2
HG01167.hp1
HG01891.hp1
others(20): Show 
HG01109.hp2
HG01167.hp1
HG01891.hp1
HG02280.hp1
HG02622.hp1
HG02622.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp2
HG02922.hp2
HG03139.hp2
HG03225.hp2
HG04184.hp1
NA18955.hp2
NA18959.hp2
NA18967.hp1
NA18973.hp1
NA18990.hp2
NA19000.hp1
NA19010.hp1
NA20129.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2085+896dupA
c.2085+896dupA
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 19/21 chr17 531945
chr17:531945 GT
GT
 G
G
 38 a0001c0001t0017g0158
a0001c0002t0010g0057
a0001c0002t0010g0087
others(35): Show 
a0001c0001t0017g0158
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0022g0085
a0001c0002t0043g0064
a0001c0002t0055g0084
a0001c0002t0100g0223
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0011t0051g0091
a0001c0014t0135g0166
a0001c0016t0052g0099
a0002c0003t0085g0184
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0022g0004
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0004c0008t0103g0227
 38 HG00741.hp1
HG01074.hp2
HG01168.hp2
others(35): Show 
HG00741.hp1
HG01074.hp2
HG01168.hp2
HG02074.hp1
HG02135.hp2
HG02572.hp1
HG02602.hp1
HG03491.hp2
HG03831.hp2
NA18612.hp2
NA18747.hp1
NA18906.hp2
NA18940.hp1
NA18944.hp1
NA18944.hp2
NA18959.hp1
NA18960.hp2
NA18961.hp2
NA18962.hp1
NA18973.hp2
NA18977.hp1
NA18978.hp1
NA18984.hp1
NA18986.hp2
NA18990.hp1
NA18994.hp1
NA18994.hp2
NA19000.hp2
NA19009.hp1
NA19010.hp2
NA19011.hp2
NA19064.hp1
NA19080.hp1
NA19084.hp1
NA19087.hp1
NA19087.hp2
NA19091.hp1
NA19091.hp2
 intron_variant MODIFIER c.2085+896delA
c.2085+896delA
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 19/21 chr17 531945
chr17:531953 T
T
 G
G
 80 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(77): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0030g0120
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0032g0114
a0001c0001t0032g0204
a0001c0001t0034g0126
a0001c0001t0034g0162
a0001c0001t0069g0012
a0001c0001t0084g0046
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0110g0127
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0122g0160
a0001c0001t0128g0132
a0001c0001t0134g0154
a0001c0001t0138g0161
a0001c0001t0141g0165
a0001c0002t0109g0222
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0001c0015t0126g0149
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0018g0231
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0099g0192
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0145g0187
a0002c0003t0146g0170
a0002c0003t0148g0174
a0003c0004t0006g0033
a0004c0008t0036g0207
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
a0006c0012t0129g0140
a0007c0013t0132g0163
 80 HG00099.hp1
HG00099.hp2
HG00280.hp2
others(77): Show 
HG00099.hp1
HG00099.hp2
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00438.hp2
HG00621.hp1
HG00741.hp2
HG01070.hp2
HG01071.hp1
HG01081.hp2
HG01106.hp2
HG01109.hp1
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01361.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp2
HG01884.hp2
HG01891.hp2
HG01928.hp2
HG01978.hp2
HG01981.hp2
HG02040.hp2
HG02056.hp2
HG02083.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02293.hp2
HG02300.hp2
HG02572.hp2
HG02602.hp2
HG02723.hp1
HG02738.hp2
HG02895.hp1
HG02922.hp1
HG03139.hp1
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03688.hp2
HG03831.hp1
HG03942.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
NA18940.hp2
NA18945.hp2
NA18946.hp1
NA18950.hp2
NA18955.hp1
NA18967.hp2
NA18978.hp2
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18986.hp1
NA18987.hp2
NA19009.hp2
NA19065.hp2
NA19066.hp2
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19079.hp2
NA19090.hp2
NA20129.hp2
NA20300.hp1
 intron_variant MODIFIER c.2085+889A>C
c.2085+889A>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 19/21 chr17 531953
chr17:531954 T
T
 G
G
 21 a0001c0002t0022g0085
a0001c0002t0055g0084
a0001c0002t0100g0223
others(18): Show 
a0001c0002t0022g0085
a0001c0002t0055g0084
a0001c0002t0100g0223
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0022g0004
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0004c0008t0103g0227
 21 HG02074.hp1
HG03831.hp2
NA18612.hp2
others(18): Show 
HG02074.hp1
HG03831.hp2
NA18612.hp2
NA18906.hp2
NA18940.hp1
NA18944.hp2
NA18957.hp1
NA18959.hp1
NA18961.hp2
NA18962.hp1
NA18973.hp2
NA18977.hp1
NA18978.hp1
NA18984.hp1
NA18986.hp2
NA18990.hp1
NA19011.hp2
NA19064.hp1
NA19080.hp1
NA19087.hp2
NA19091.hp2
 intron_variant MODIFIER c.2085+888A>C
c.2085+888A>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 19/21 chr17 531954
chr17:531980 C
C
 T
T
 26 a0001c0001t0032g0114
a0001c0001t0032g0204
a0001c0001t0034g0162
others(23): Show 
a0001c0001t0032g0114
a0001c0001t0032g0204
a0001c0001t0034g0162
a0001c0001t0122g0160
a0001c0001t0138g0161
a0001c0001t0141g0165
a0001c0015t0126g0149
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0018g0231
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0145g0187
a0002c0003t0146g0170
a0002c0003t0148g0174
a0004c0008t0036g0207
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
a0007c0013t0132g0163
 26 HG00323.hp2
HG00423.hp1
HG00621.hp1
others(23): Show 
HG00323.hp2
HG00423.hp1
HG00621.hp1
HG01070.hp2
HG01071.hp1
HG01106.hp2
HG01109.hp1
HG01257.hp1
HG01258.hp2
HG02129.hp1
HG02132.hp1
HG02723.hp1
HG02738.hp2
HG02895.hp1
HG02922.hp1
HG03831.hp1
HG03942.hp1
HG04199.hp1
HG04204.hp1
NA18946.hp1
NA18955.hp1
NA18979.hp2
NA18983.hp1
NA18986.hp1
NA19066.hp2
NA19090.hp2
 intron_variant MODIFIER c.2085+862G>A
c.2085+862G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 19/21 chr17 531980
chr17:532239 T
T
 C
C
 1 a0001c0002t0049g0048
a0001c0002t0049g0048
 1 HG02145.hp2
HG02145.hp2
 intron_variant MODIFIER c.2085+603A>G
c.2085+603A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 19/21 chr17 532239
chr17:532343 C
C
 T
T
 12 a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
others(9): Show 
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0186
a0002c0003t0009g0218
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0104g0208
a0002c0003t0150g0191
 12 HG01099.hp1
HG01981.hp1
HG02040.hp1
others(9): Show 
HG01099.hp1
HG01981.hp1
HG02040.hp1
HG02056.hp1
HG02083.hp1
HG02293.hp1
HG02300.hp1
NA18612.hp1
NA18987.hp1
NA19000.hp1
NA19010.hp1
NA19074.hp1
 intron_variant MODIFIER c.2085+499G>A
c.2085+499G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 19/21 chr17 532343
chr17:532377 T
T
 G
G
 3 a0001c0001t0116g0138
a0001c0001t0119g0144
a0006c0012t0129g0140
a0001c0001t0116g0138
a0001c0001t0119g0144
a0006c0012t0129g0140
 3 NA18945.hp2
NA18978.hp2
NA18987.hp2
NA18945.hp2
NA18978.hp2
NA18987.hp2
 intron_variant MODIFIER c.2085+465A>C
c.2085+465A>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 19/21 chr17 532377
chr17:532539 G
G
 A
A
 1 a0001c0006t0001g0113
a0001c0006t0001g0113
 1 HG03688.hp1
HG03688.hp1
 intron_variant MODIFIER c.2085+303C>T
c.2085+303C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 19/21 chr17 532539
chr17:532555 G
G
 A
A
 1 a0003c0004t0025g0038
a0003c0004t0025g0038
 1 NA19068.hp1
NA19068.hp1
 intron_variant MODIFIER c.2085+287C>T
c.2085+287C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 19/21 chr17 532555
chr17:532589 C
C
 T
T
 5 a0001c0002t0022g0085
a0003c0004t0022g0004
a0003c0004t0054g0032
others(2): Show 
a0001c0002t0022g0085
a0003c0004t0022g0004
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0060g0039
 5 HG03831.hp2
NA18940.hp1
NA18961.hp2
others(2): Show 
HG03831.hp2
NA18940.hp1
NA18961.hp2
NA19080.hp1
NA19087.hp2
 intron_variant MODIFIER c.2085+253G>A
c.2085+253G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 19/21 chr17 532589
chr17:532653 G
G
 A
A
 5 a0001c0002t0022g0085
a0003c0004t0022g0004
a0003c0004t0054g0032
others(2): Show 
a0001c0002t0022g0085
a0003c0004t0022g0004
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0060g0039
 5 HG03831.hp2
NA18940.hp1
NA18961.hp2
others(2): Show 
HG03831.hp2
NA18940.hp1
NA18961.hp2
NA19080.hp1
NA19087.hp2
 intron_variant MODIFIER c.2085+189C>T
c.2085+189C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 19/21 chr17 532653
chr17:532656 C
C
 T
T
 68 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(65): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0032g0114
a0001c0001t0032g0204
a0001c0001t0034g0162
a0001c0001t0069g0012
a0001c0001t0084g0046
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0110g0127
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0122g0160
a0001c0001t0128g0132
a0001c0001t0134g0154
a0001c0001t0138g0161
a0001c0001t0141g0165
a0001c0002t0109g0222
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0001c0015t0126g0149
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0018g0231
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0146g0170
a0002c0003t0148g0174
a0004c0008t0036g0207
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
a0006c0012t0129g0140
a0007c0013t0132g0163
 68 HG00099.hp1
HG00323.hp2
HG00423.hp1
others(65): Show 
HG00099.hp1
HG00323.hp2
HG00423.hp1
HG00621.hp1
HG00741.hp2
HG01070.hp2
HG01071.hp1
HG01081.hp2
HG01106.hp2
HG01109.hp1
HG01175.hp2
HG01192.hp2
HG01255.hp2
HG01257.hp1
HG01258.hp2
HG01361.hp2
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp2
HG01891.hp2
HG01928.hp2
HG01978.hp2
HG02040.hp2
HG02056.hp2
HG02083.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02602.hp2
HG02723.hp1
HG02738.hp2
HG02895.hp1
HG02922.hp1
HG03492.hp2
HG03516.hp1
HG03688.hp2
HG03831.hp1
HG03942.hp1
HG04184.hp2
HG04199.hp2
HG04204.hp1
NA18940.hp2
NA18945.hp2
NA18946.hp1
NA18955.hp1
NA18967.hp2
NA18978.hp2
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18986.hp1
NA18987.hp2
NA19009.hp2
NA19065.hp2
NA19066.hp2
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19079.hp2
NA19090.hp2
NA20129.hp2
NA20300.hp1
 intron_variant MODIFIER c.2085+186G>A
c.2085+186G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 19/21 chr17 532656
chr17:532956 A
A
 C
C
 4 a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0098g0147
others(1): Show 
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0098g0147
a0001c0002t0050g0049
 4 HG02280.hp1
HG02818.hp2
HG03225.hp2
others(1): Show 
HG02280.hp1
HG02818.hp2
HG03225.hp2
NA20300.hp2
 intron_variant MODIFIER c.2016-45T>G
c.2016-45T>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 18/21 chr17 532956
chr17:532981 G
G
 C
C
 36 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(33): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0069g0012
a0001c0001t0107g0212
a0001c0001t0110g0127
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0128g0132
a0001c0002t0109g0222
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0006c0012t0129g0140
 36 HG00099.hp1
HG00741.hp2
HG01081.hp2
others(33): Show 
HG00099.hp1
HG00741.hp2
HG01081.hp2
HG01175.hp2
HG01192.hp2
HG01255.hp2
HG01361.hp2
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01928.hp2
HG01978.hp2
HG02040.hp2
HG02056.hp2
HG02083.hp2
HG02129.hp2
HG02132.hp2
HG02293.hp2
HG02300.hp2
HG02602.hp2
HG03492.hp2
HG03688.hp2
HG04184.hp2
HG04199.hp2
NA18940.hp2
NA18945.hp2
NA18967.hp2
NA18978.hp2
NA18983.hp2
NA18987.hp2
NA19009.hp2
NA19065.hp2
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19079.hp2
 intron_variant MODIFIER c.2016-70C>G
c.2016-70C>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 18/21 chr17 532981
chr17:533068 T
T
 C
C
 69 a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
others(66): Show 
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0097g0199
a0001c0001t0098g0147
a0001c0001t0105g0201
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0127g0159
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0049g0048
a0001c0002t0050g0049
a0001c0002t0058g0052
a0001c0002t0078g0041
a0001c0002t0086g0221
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0011t0051g0091
a0001c0014t0135g0166
a0001c0016t0052g0099
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0085g0184
a0002c0003t0089g0175
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0104g0208
a0002c0003t0150g0191
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0047g0017
 69 HG00423.hp2
HG01074.hp2
HG01099.hp1
others(66): Show 
HG00423.hp2
HG01074.hp2
HG01099.hp1
HG01109.hp2
HG01167.hp1
HG01168.hp2
HG01884.hp1
HG01891.hp1
HG01928.hp1
HG01981.hp1
HG02040.hp1
HG02056.hp1
HG02074.hp2
HG02083.hp1
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02280.hp1
HG02293.hp1
HG02300.hp1
HG02572.hp1
HG02602.hp1
HG02622.hp1
HG02622.hp2
HG02723.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp2
HG02922.hp2
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03491.hp2
HG03516.hp2
NA18612.hp1
NA18747.hp1
NA18944.hp1
NA18945.hp1
NA18948.hp2
NA18950.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp1
NA18962.hp2
NA18979.hp1
NA18987.hp1
NA18994.hp1
NA18994.hp2
NA19000.hp1
NA19000.hp2
NA19007.hp1
NA19009.hp1
NA19010.hp1
NA19010.hp2
NA19060.hp1
NA19060.hp2
NA19065.hp1
NA19074.hp1
NA19080.hp2
NA19081.hp1
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19090.hp1
NA19091.hp1
NA20129.hp1
NA20300.hp2
 intron_variant MODIFIER c.2016-157A>G
c.2016-157A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 18/21 chr17 533068
chr17:533331 A
A
 T
T
 2 a0001c0011t0051g0091
a0001c0016t0052g0099
a0001c0011t0051g0091
a0001c0016t0052g0099
 2 HG01074.hp2
HG01168.hp2
HG01074.hp2
HG01168.hp2
 intron_variant MODIFIER c.2016-420T>A
c.2016-420T>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 18/21 chr17 533331
chr17:533606 G
G
 A
A
 1 a0002c0003t0008g0182
a0002c0003t0008g0182
 1 HG02083.hp1
HG02083.hp1
 intron_variant MODIFIER c.2016-695C>T
c.2016-695C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 18/21 chr17 533606
chr17:533608 C
C
 T
T
 16 a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0043g0064
others(13): Show 
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0043g0064
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0011t0051g0091
a0001c0016t0052g0099
a0002c0003t0089g0175
a0003c0004t0047g0017
 16 HG01074.hp2
HG01168.hp2
HG02074.hp2
others(13): Show 
HG01074.hp2
HG01168.hp2
HG02074.hp2
HG02135.hp2
HG02602.hp1
NA18747.hp1
NA18944.hp1
NA18960.hp2
NA18994.hp1
NA18994.hp2
NA19000.hp2
NA19009.hp1
NA19010.hp2
NA19084.hp1
NA19087.hp1
NA19091.hp1
 intron_variant MODIFIER c.2016-697G>A
c.2016-697G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 18/21 chr17 533608
chr17:533660 T
T
 C
C
 157 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(154): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0032g0114
a0001c0001t0032g0204
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0034g0126
a0001c0001t0034g0162
a0001c0001t0069g0012
a0001c0001t0084g0046
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0097g0199
a0001c0001t0098g0147
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0105g0201
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0108g0148
a0001c0001t0110g0127
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0118g0195
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0122g0160
a0001c0001t0127g0159
a0001c0001t0128g0132
a0001c0001t0134g0154
a0001c0001t0138g0161
a0001c0001t0141g0165
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0022g0085
a0001c0002t0048g0089
a0001c0002t0049g0048
a0001c0002t0050g0049
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0078g0041
a0001c0002t0086g0221
a0001c0002t0100g0223
a0001c0002t0109g0222
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0001c0014t0135g0166
a0001c0015t0126g0149
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0018g0231
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0085g0184
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0099g0192
a0002c0003t0104g0208
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0145g0187
a0002c0003t0146g0170
a0002c0003t0148g0174
a0002c0003t0150g0191
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0004c0008t0036g0207
a0004c0008t0103g0227
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
a0006c0012t0129g0140
a0007c0013t0132g0163
 157 HG00099.hp1
HG00099.hp2
HG00280.hp2
others(154): Show 
HG00099.hp1
HG00099.hp2
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp2
HG00621.hp1
HG00741.hp2
HG01070.hp2
HG01071.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01346.hp2
HG01361.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02056.hp1
HG02056.hp2
HG02074.hp1
HG02083.hp1
HG02083.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
NA18612.hp1
NA18612.hp2
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18955.hp1
NA18957.hp1
NA18959.hp1
NA18959.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18967.hp2
NA18973.hp2
NA18977.hp1
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18990.hp1
NA19000.hp1
NA19007.hp1
NA19009.hp2
NA19010.hp1
NA19011.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19065.hp1
NA19065.hp2
NA19066.hp2
NA19068.hp2
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19084.hp2
NA19087.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
 intron_variant MODIFIER c.2016-749A>G
c.2016-749A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 18/21 chr17 533660
chr17:533709 T
T
 TA
TA
 2 a0001c0001t0108g0148
a0001c0001t0118g0195
a0001c0001t0108g0148
a0001c0001t0118g0195
 2 HG01192.hp1
HG01346.hp2
HG01192.hp1
HG01346.hp2
 intron_variant MODIFIER c.2016-799dupT
c.2016-799dupT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 18/21 chr17 533709
chr17:533843 C
C
 CT
CT
 15 a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0043g0064
others(12): Show 
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0043g0064
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0016t0052g0099
a0002c0003t0089g0175
a0003c0004t0047g0017
 15 HG01168.hp2
HG02074.hp2
HG02135.hp2
others(12): Show 
HG01168.hp2
HG02074.hp2
HG02135.hp2
HG02602.hp1
NA18747.hp1
NA18944.hp1
NA18960.hp2
NA18994.hp1
NA18994.hp2
NA19000.hp2
NA19009.hp1
NA19010.hp2
NA19084.hp1
NA19087.hp1
NA19091.hp1
 intron_variant MODIFIER c.2016-933dupA
c.2016-933dupA
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 18/21 chr17 533843
chr17:533843 CT
CT
 C
C
 102 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(99): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0032g0114
a0001c0001t0032g0204
a0001c0001t0034g0126
a0001c0001t0034g0162
a0001c0001t0069g0012
a0001c0001t0084g0046
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0108g0148
a0001c0001t0110g0127
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0118g0195
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0122g0160
a0001c0001t0128g0132
a0001c0001t0134g0154
a0001c0001t0138g0161
a0001c0001t0141g0165
a0001c0002t0022g0085
a0001c0002t0055g0084
a0001c0002t0067g0076
a0001c0002t0100g0223
a0001c0002t0109g0222
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0001c0015t0126g0149
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0018g0231
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0099g0192
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0145g0187
a0002c0003t0146g0170
a0002c0003t0148g0174
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0004c0008t0036g0207
a0004c0008t0103g0227
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
a0006c0012t0129g0140
a0007c0013t0132g0163
 102 HG00099.hp1
HG00099.hp2
HG00280.hp2
others(99): Show 
HG00099.hp1
HG00099.hp2
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00438.hp2
HG00621.hp1
HG00741.hp2
HG01070.hp2
HG01071.hp1
HG01081.hp2
HG01106.hp2
HG01109.hp1
HG01168.hp1
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01346.hp2
HG01361.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp2
HG01884.hp2
HG01891.hp2
HG01928.hp2
HG01978.hp2
HG01981.hp2
HG02040.hp2
HG02056.hp2
HG02074.hp1
HG02083.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02572.hp2
HG02602.hp2
HG02723.hp1
HG02738.hp2
HG02895.hp1
HG02922.hp1
HG03139.hp1
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
NA18612.hp2
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18944.hp2
NA18945.hp2
NA18946.hp1
NA18950.hp2
NA18955.hp1
NA18957.hp1
NA18959.hp1
NA18961.hp2
NA18967.hp2
NA18973.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18986.hp1
NA18987.hp2
NA18990.hp1
NA19009.hp2
NA19011.hp2
NA19064.hp1
NA19065.hp2
NA19066.hp2
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19079.hp2
NA19080.hp1
NA19087.hp2
NA19090.hp2
NA19091.hp2
NA20129.hp2
NA20300.hp1
 intron_variant MODIFIER c.2016-933delA
c.2016-933delA
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 18/21 chr17 533843
chr17:534181 C
C
 A
A
 1 a0001c0002t0001g0066
a0001c0002t0001g0066
 1 HG04204.hp2
HG04204.hp2
 intron_variant MODIFIER c.2016-1270G>T
c.2016-1270G>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 18/21 chr17 534181
chr17:534378 C
C
 T
T
 1 a0001c0006t0040g0002
a0001c0006t0040g0002
 1 HG01981.hp2
HG01981.hp2
 intron_variant MODIFIER c.2016-1467G>A
c.2016-1467G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 18/21 chr17 534378
chr17:534460 G
G
 A
A
 1 a0001c0001t0108g0148
a0001c0001t0108g0148
 1 HG01192.hp1
HG01192.hp1
 intron_variant MODIFIER c.2016-1549C>T
c.2016-1549C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 18/21 chr17 534460
chr17:534631 C
C
 T
T
 1 a0001c0002t0058g0052
a0001c0002t0058g0052
 1 NA18979.hp1
NA18979.hp1
 intron_variant MODIFIER c.2016-1720G>A
c.2016-1720G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 18/21 chr17 534631
chr17:534786 C
C
 T
T
 1 a0001c0006t0053g0102
a0001c0006t0053g0102
 1 HG00099.hp2
HG00099.hp2
 intron_variant MODIFIER c.2016-1875G>A
c.2016-1875G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 18/21 chr17 534786
chr17:534917 C
C
 CA
CA
 82 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(79): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0016g0118
a0001c0001t0017g0158
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0031g0153
a0001c0001t0069g0012
a0001c0001t0084g0046
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0105g0201
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0127g0159
a0001c0001t0134g0154
a0001c0002t0001g0066
a0001c0002t0001g0090
a0001c0002t0003g0054
a0001c0002t0005g0061
a0001c0002t0022g0085
a0001c0002t0025g0075
a0001c0002t0049g0048
a0001c0002t0050g0049
a0001c0002t0055g0084
a0001c0002t0100g0223
a0001c0002t0109g0222
a0001c0005t0042g0044
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0023g0107
a0001c0007t0062g0104
a0001c0007t0070g0112
a0002c0003t0008g0180
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0186
a0002c0003t0009g0218
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0090g0171
a0002c0003t0104g0208
a0002c0003t0145g0187
a0002c0003t0150g0191
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0004c0008t0103g0227
 82 HG00099.hp1
HG00099.hp2
HG00280.hp2
others(79): Show 
HG00099.hp1
HG00099.hp2
HG00280.hp2
HG00741.hp1
HG01071.hp2
HG01081.hp2
HG01099.hp1
HG01109.hp2
HG01175.hp2
HG01255.hp2
HG01361.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp2
HG01884.hp2
HG01891.hp1
HG01928.hp2
HG01978.hp1
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02056.hp1
HG02074.hp1
HG02083.hp2
HG02109.hp2
HG02129.hp2
HG02135.hp1
HG02145.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp2
HG02572.hp2
HG02602.hp2
HG02738.hp1
HG03139.hp1
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03688.hp2
HG03831.hp2
HG04184.hp2
HG04199.hp1
HG04204.hp2
NA18612.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18944.hp2
NA18945.hp2
NA18950.hp2
NA18957.hp1
NA18959.hp1
NA18961.hp2
NA18962.hp1
NA18967.hp2
NA18973.hp2
NA18977.hp1
NA18978.hp1
NA18983.hp2
NA18984.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18990.hp1
NA19000.hp1
NA19000.hp2
NA19010.hp1
NA19064.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp2
NA19080.hp1
NA19087.hp2
NA19091.hp2
NA20129.hp2
NA20300.hp1
 intron_variant MODIFIER c.2016-2007dupT
c.2016-2007dupT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 18/21 chr17 534917
chr17:534917 C
C
 CAA
CAA
 41 a0001c0001t0031g0155
a0001c0001t0032g0114
a0001c0001t0032g0204
others(38): Show 
a0001c0001t0031g0155
a0001c0001t0032g0114
a0001c0001t0032g0204
a0001c0001t0034g0126
a0001c0001t0034g0162
a0001c0001t0108g0148
a0001c0001t0112g0157
a0001c0001t0118g0195
a0001c0001t0121g0143
a0001c0001t0122g0160
a0001c0001t0128g0132
a0001c0001t0138g0161
a0001c0001t0141g0165
a0001c0006t0041g0001
a0001c0007t0012g0111
a0001c0007t0023g0109
a0001c0015t0126g0149
a0002c0003t0008g0182
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0018g0231
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0091g0209
a0002c0003t0099g0192
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0146g0170
a0002c0003t0148g0174
a0003c0004t0004g0021
a0003c0004t0004g0025
a0004c0008t0036g0207
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
a0006c0012t0129g0140
a0007c0013t0132g0163
 41 HG00323.hp2
HG00423.hp1
HG00438.hp2
others(38): Show 
HG00323.hp2
HG00423.hp1
HG00438.hp2
HG00621.hp1
HG01070.hp2
HG01071.hp1
HG01106.hp2
HG01109.hp1
HG01175.hp1
HG01192.hp1
HG01192.hp2
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01346.hp2
HG01891.hp2
HG01978.hp2
HG02056.hp2
HG02083.hp1
HG02129.hp1
HG02132.hp1
HG02300.hp1
HG02723.hp1
HG02738.hp2
HG02895.hp1
HG02922.hp1
HG03831.hp1
HG03942.hp1
HG04199.hp2
HG04204.hp1
NA18612.hp2
NA18946.hp1
NA18955.hp1
NA18978.hp2
NA18979.hp2
NA18983.hp1
NA18986.hp1
NA19011.hp2
NA19066.hp2
NA19090.hp2
NA20129.hp1
 intron_variant MODIFIER c.2016-2008_2016-200
others(6): Show 
c.2016-2008_2016-2007dupTT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 18/21 chr17 534917
chr17:535163 C
C
 G
G
 2 a0001c0002t0078g0041
a0001c0014t0135g0166
a0001c0002t0078g0041
a0001c0014t0135g0166
 2 HG02572.hp1
HG03516.hp2
HG02572.hp1
HG03516.hp2
 intron_variant MODIFIER c.2015+1865G>C
c.2015+1865G>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 18/21 chr17 535163
chr17:535246 G
G
 A
A
 1 a0001c0001t0118g0195
a0001c0001t0118g0195
 1 HG01346.hp2
HG01346.hp2
 intron_variant MODIFIER c.2015+1782C>T
c.2015+1782C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 18/21 chr17 535246
chr17:535302 A
A
 G
G
 1 a0002c0003t0018g0172
a0002c0003t0018g0172
 1 HG02129.hp1
HG02129.hp1
 intron_variant MODIFIER c.2015+1726T>C
c.2015+1726T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 18/21 chr17 535302
chr17:535345 T
T
 C
C
 53 a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
others(50): Show 
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0097g0199
a0001c0001t0098g0147
a0001c0001t0105g0201
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0127g0159
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0048g0089
a0001c0002t0049g0048
a0001c0002t0050g0049
a0001c0002t0058g0052
a0001c0002t0078g0041
a0001c0002t0086g0221
a0001c0014t0135g0166
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0085g0184
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0104g0208
a0002c0003t0150g0191
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
 53 HG00423.hp2
HG01099.hp1
HG01109.hp2
others(50): Show 
HG00423.hp2
HG01099.hp1
HG01109.hp2
HG01167.hp1
HG01884.hp1
HG01891.hp1
HG01928.hp1
HG01981.hp1
HG02040.hp1
HG02056.hp1
HG02083.hp1
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02280.hp1
HG02293.hp1
HG02300.hp1
HG02572.hp1
HG02622.hp1
HG02622.hp2
HG02723.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp2
HG02922.hp2
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03491.hp2
HG03516.hp2
NA18612.hp1
NA18945.hp1
NA18948.hp2
NA18950.hp1
NA18959.hp2
NA18961.hp1
NA18962.hp2
NA18979.hp1
NA18987.hp1
NA19000.hp1
NA19007.hp1
NA19010.hp1
NA19060.hp1
NA19060.hp2
NA19065.hp1
NA19074.hp1
NA19080.hp2
NA19081.hp1
NA19084.hp2
NA19090.hp1
NA20129.hp1
NA20300.hp2
 intron_variant MODIFIER c.2015+1683A>G
c.2015+1683A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 18/21 chr17 535345
chr17:535380 TGGGAGAC
others(67): Show 
TGGGAGACGCCGGGACTGGCTAAGTCAACGGACTCCTCCTTCGCTTTAAT
GTAAGCTCAATCATATGACTGAGCA
 T
T
 10 a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
others(7): Show 
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
 10 HG01071.hp2
HG01074.hp1
HG01081.hp1
others(7): Show 
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01257.hp2
HG01516.hp2
HG01517.hp1
HG02109.hp1
NA18906.hp1
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.2015+1574_2015+164
others(78): Show 
c.2015+1574_2015+1647delTGCTCAGTCATATGATTGAGCTTACA
TTAAAGCGAAGGAGGAGTCCGTTGACTTAGCCAGTCCCGGCGTCTCCC
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 18/21 chr17 535380
chr17:535409 G
G
 A
A
 43 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(40): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0069g0012
a0001c0001t0084g0046
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0110g0127
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0128g0132
a0001c0001t0134g0154
a0001c0002t0109g0222
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0006c0012t0129g0140
 43 HG00099.hp1
HG00741.hp2
HG01081.hp2
others(40): Show 
HG00099.hp1
HG00741.hp2
HG01081.hp2
HG01175.hp2
HG01192.hp2
HG01255.hp2
HG01361.hp2
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp2
HG01891.hp2
HG01928.hp2
HG01978.hp2
HG02040.hp2
HG02056.hp2
HG02083.hp2
HG02109.hp2
HG02129.hp2
HG02132.hp2
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02602.hp2
HG03492.hp2
HG03516.hp1
HG03688.hp2
HG04184.hp2
HG04199.hp2
NA18940.hp2
NA18945.hp2
NA18967.hp2
NA18978.hp2
NA18983.hp2
NA18987.hp2
NA19009.hp2
NA19065.hp2
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19079.hp2
NA20129.hp2
NA20300.hp1
 intron_variant MODIFIER c.2015+1619C>T
c.2015+1619C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 18/21 chr17 535409
chr17:535410 G
G
 A
A
 16 a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0043g0064
others(13): Show 
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0043g0064
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0011t0051g0091
a0001c0016t0052g0099
a0002c0003t0089g0175
a0003c0004t0047g0017
 16 HG01074.hp2
HG01168.hp2
HG02074.hp2
others(13): Show 
HG01074.hp2
HG01168.hp2
HG02074.hp2
HG02135.hp2
HG02602.hp1
NA18747.hp1
NA18944.hp1
NA18960.hp2
NA18994.hp1
NA18994.hp2
NA19000.hp2
NA19009.hp1
NA19010.hp2
NA19084.hp1
NA19087.hp1
NA19091.hp1
 intron_variant MODIFIER c.2015+1618C>T
c.2015+1618C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 18/21 chr17 535410
chr17:535422 G
G
 A
A
 40 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(37): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0069g0012
a0001c0001t0084g0046
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0110g0127
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0128g0132
a0001c0002t0109g0222
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0006c0012t0129g0140
 40 HG00099.hp1
HG00741.hp2
HG01081.hp2
others(37): Show 
HG00099.hp1
HG00741.hp2
HG01081.hp2
HG01175.hp2
HG01192.hp2
HG01255.hp2
HG01361.hp2
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp2
HG01928.hp2
HG01978.hp2
HG02040.hp2
HG02056.hp2
HG02083.hp2
HG02109.hp2
HG02129.hp2
HG02132.hp2
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02602.hp2
HG03492.hp2
HG03516.hp1
HG03688.hp2
HG04184.hp2
HG04199.hp2
NA18940.hp2
NA18945.hp2
NA18967.hp2
NA18978.hp2
NA18983.hp2
NA18987.hp2
NA19009.hp2
NA19065.hp2
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19079.hp2
 intron_variant MODIFIER c.2015+1606C>T
c.2015+1606C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 18/21 chr17 535422
chr17:535422 G
G
 C
C
 3 a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0134g0154
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0134g0154
 3 HG01891.hp2
NA20129.hp2
NA20300.hp1
HG01891.hp2
NA20129.hp2
NA20300.hp1
 intron_variant MODIFIER c.2015+1606C>G
c.2015+1606C>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 18/21 chr17 535422
chr17:535465 G
G
 A
A
 3 a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0005t0080g0092
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0005t0080g0092
 3 NA18955.hp2
NA18984.hp2
NA19064.hp2
NA18955.hp2
NA18984.hp2
NA19064.hp2
 intron_variant MODIFIER c.2015+1563C>T
c.2015+1563C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 18/21 chr17 535465
chr17:535577 C
C
 T
T
 2 a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0031g0153
a0001c0001t0031g0155
 2 HG01891.hp2
NA20129.hp2
HG01891.hp2
NA20129.hp2
 intron_variant MODIFIER c.2015+1451G>A
c.2015+1451G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 18/21 chr17 535577
chr17:535794 C
C
 G
G
 2 a0001c0001t0032g0114
a0001c0001t0032g0204
a0001c0001t0032g0114
a0001c0001t0032g0204
 2 HG02895.hp1
HG02922.hp1
HG02895.hp1
HG02922.hp1
 intron_variant MODIFIER c.2015+1234G>C
c.2015+1234G>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 18/21 chr17 535794
chr17:535879 G
G
 A
A
 1 a0001c0002t0049g0048
a0001c0002t0049g0048
 1 HG02145.hp2
HG02145.hp2
 intron_variant MODIFIER c.2015+1149C>T
c.2015+1149C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 18/21 chr17 535879
chr17:535884 A
A
 G
G
 120 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(117): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0032g0114
a0001c0001t0032g0204
a0001c0001t0034g0126
a0001c0001t0034g0162
a0001c0001t0069g0012
a0001c0001t0084g0046
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0108g0148
a0001c0001t0110g0127
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0118g0195
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0122g0160
a0001c0001t0128g0132
a0001c0001t0134g0154
a0001c0001t0138g0161
a0001c0001t0141g0165
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0022g0085
a0001c0002t0043g0064
a0001c0002t0055g0084
a0001c0002t0100g0223
a0001c0002t0109g0222
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0001c0011t0051g0091
a0001c0015t0126g0149
a0001c0016t0052g0099
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0018g0231
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0089g0175
a0002c0003t0099g0192
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0145g0187
a0002c0003t0146g0170
a0002c0003t0148g0174
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0004c0008t0036g0207
a0004c0008t0103g0227
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
a0006c0012t0129g0140
a0007c0013t0132g0163
 120 HG00099.hp1
HG00099.hp2
HG00280.hp2
others(117): Show 
HG00099.hp1
HG00099.hp2
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00438.hp2
HG00621.hp1
HG00741.hp2
HG01070.hp2
HG01071.hp1
HG01074.hp2
HG01081.hp2
HG01106.hp2
HG01109.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01346.hp2
HG01361.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp2
HG01884.hp2
HG01891.hp2
HG01928.hp2
HG01978.hp2
HG01981.hp2
HG02040.hp2
HG02056.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp2
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02723.hp1
HG02738.hp2
HG02895.hp1
HG02922.hp1
HG03139.hp1
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
NA18612.hp2
NA18747.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp2
NA18946.hp1
NA18950.hp2
NA18955.hp1
NA18957.hp1
NA18959.hp1
NA18960.hp2
NA18961.hp2
NA18962.hp1
NA18967.hp2
NA18973.hp2
NA18977.hp1
NA18978.hp1
NA18978.hp2
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18986.hp1
NA18986.hp2
NA18987.hp2
NA18990.hp1
NA18994.hp1
NA18994.hp2
NA19000.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19011.hp2
NA19064.hp1
NA19065.hp2
NA19066.hp2
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19079.hp2
NA19080.hp1
NA19084.hp1
NA19087.hp1
NA19087.hp2
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA20129.hp2
NA20300.hp1
 intron_variant MODIFIER c.2015+1144T>C
c.2015+1144T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 18/21 chr17 535884
chr17:536338 C
C
 G
G
 1 a0003c0004t0004g0014
a0003c0004t0004g0014
 1 NA18957.hp1
NA18957.hp1
 intron_variant MODIFIER c.2015+690G>C
c.2015+690G>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 18/21 chr17 536338
chr17:536387 A
A
 G
G
 1 a0003c0004t0061g0031
a0003c0004t0061g0031
 1 NA18978.hp1
NA18978.hp1
 intron_variant MODIFIER c.2015+641T>C
c.2015+641T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 18/21 chr17 536387
chr17:536423 T
T
 C
C
 2 a0001c0001t0108g0148
a0001c0001t0118g0195
a0001c0001t0108g0148
a0001c0001t0118g0195
 2 HG01192.hp1
HG01346.hp2
HG01192.hp1
HG01346.hp2
 intron_variant MODIFIER c.2015+605A>G
c.2015+605A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 18/21 chr17 536423
chr17:536773 G
G
 A
A
 1 a0002c0003t0093g0173
a0002c0003t0093g0173
 1 HG01167.hp1
HG01167.hp1
 intron_variant MODIFIER c.2015+255C>T
c.2015+255C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 18/21 chr17 536773
chr17:536787 C
C
 T
T
 4 a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
others(1): Show 
a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0005t0080g0092
 4 NA18747.hp2
NA18955.hp2
NA18984.hp2
others(1): Show 
NA18747.hp2
NA18955.hp2
NA18984.hp2
NA19064.hp2
 intron_variant MODIFIER c.2015+241G>A
c.2015+241G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 18/21 chr17 536787
chr17:536848 G
G
 A
A
 1 a0001c0002t0075g0051
a0001c0002t0075g0051
 1 NA19070.hp1
NA19070.hp1
 intron_variant MODIFIER c.2015+180C>T
c.2015+180C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 18/21 chr17 536848
chr17:536868 A
A
 C
C
 173 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(170): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0032g0114
a0001c0001t0032g0204
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0034g0126
a0001c0001t0034g0162
a0001c0001t0069g0012
a0001c0001t0084g0046
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0097g0199
a0001c0001t0098g0147
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0105g0201
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0108g0148
a0001c0001t0110g0127
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0118g0195
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0122g0160
a0001c0001t0127g0159
a0001c0001t0128g0132
a0001c0001t0134g0154
a0001c0001t0138g0161
a0001c0001t0141g0165
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0022g0085
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0049g0048
a0001c0002t0050g0049
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0078g0041
a0001c0002t0086g0221
a0001c0002t0100g0223
a0001c0002t0109g0222
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0001c0011t0051g0091
a0001c0014t0135g0166
a0001c0015t0126g0149
a0001c0016t0052g0099
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0018g0231
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0085g0184
a0002c0003t0089g0175
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0099g0192
a0002c0003t0104g0208
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0145g0187
a0002c0003t0146g0170
a0002c0003t0148g0174
a0002c0003t0150g0191
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0004c0008t0036g0207
a0004c0008t0103g0227
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
a0006c0012t0129g0140
a0007c0013t0132g0163
 173 HG00099.hp1
HG00099.hp2
HG00280.hp2
others(170): Show 
HG00099.hp1
HG00099.hp2
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp2
HG00621.hp1
HG00741.hp2
HG01070.hp2
HG01071.hp1
HG01074.hp2
HG01081.hp2
HG01099.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01346.hp2
HG01361.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02056.hp1
HG02056.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18955.hp1
NA18957.hp1
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18967.hp2
NA18973.hp2
NA18977.hp1
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18990.hp1
NA18994.hp1
NA18994.hp2
NA19000.hp1
NA19000.hp2
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19065.hp1
NA19065.hp2
NA19066.hp2
NA19068.hp2
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19087.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
 intron_variant MODIFIER c.2015+160T>G
c.2015+160T>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 18/21 chr17 536868
chr17:536898 T
T
 TG
TG
 14 a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0043g0064
others(11): Show 
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0043g0064
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0002c0003t0089g0175
a0003c0004t0047g0017
 14 HG02074.hp2
HG02135.hp2
HG02602.hp1
others(11): Show 
HG02074.hp2
HG02135.hp2
HG02602.hp1
NA18747.hp1
NA18944.hp1
NA18960.hp2
NA18994.hp1
NA18994.hp2
NA19000.hp2
NA19009.hp1
NA19010.hp2
NA19084.hp1
NA19087.hp1
NA19091.hp1
 intron_variant MODIFIER c.2015+129dupC
c.2015+129dupC
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 18/21 chr17 536898
chr17:537244 G
G
 T
T
 1 a0003c0004t0060g0039
a0003c0004t0060g0039
 1 HG03831.hp2
HG03831.hp2
 intron_variant MODIFIER c.1867-68C>A
c.1867-68C>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 537244
chr17:537247 A
A
 G
G
 34 a0001c0001t0034g0126
a0001c0001t0101g0200
a0001c0001t0102g0220
others(31): Show 
a0001c0001t0034g0126
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0002t0022g0085
a0001c0002t0055g0084
a0001c0002t0100g0223
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0002c0003t0099g0192
a0002c0003t0145g0187
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0004c0008t0103g0227
 34 HG00099.hp2
HG00280.hp2
HG00438.hp2
others(31): Show 
HG00099.hp2
HG00280.hp2
HG00438.hp2
HG01175.hp1
HG01256.hp2
HG01515.hp2
HG01981.hp2
HG02074.hp1
HG02572.hp2
HG03139.hp1
HG03491.hp1
HG03492.hp1
HG03831.hp2
HG04199.hp1
NA18612.hp2
NA18906.hp2
NA18940.hp1
NA18944.hp2
NA18950.hp2
NA18957.hp1
NA18959.hp1
NA18961.hp2
NA18962.hp1
NA18973.hp2
NA18977.hp1
NA18978.hp1
NA18984.hp1
NA18986.hp2
NA18990.hp1
NA19011.hp2
NA19064.hp1
NA19080.hp1
NA19087.hp2
NA19091.hp2
 intron_variant MODIFIER c.1867-71T>C
c.1867-71T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 537247
chr17:537257 G
G
 A
A
 104 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(101): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0032g0114
a0001c0001t0032g0204
a0001c0001t0034g0126
a0001c0001t0034g0162
a0001c0001t0069g0012
a0001c0001t0084g0046
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0108g0148
a0001c0001t0110g0127
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0118g0195
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0122g0160
a0001c0001t0128g0132
a0001c0001t0134g0154
a0001c0001t0138g0161
a0001c0001t0141g0165
a0001c0002t0022g0085
a0001c0002t0055g0084
a0001c0002t0100g0223
a0001c0002t0109g0222
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0001c0015t0126g0149
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0018g0231
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0099g0192
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0145g0187
a0002c0003t0146g0170
a0002c0003t0148g0174
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0004c0008t0036g0207
a0004c0008t0103g0227
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
a0006c0012t0129g0140
a0007c0013t0132g0163
 104 HG00099.hp1
HG00099.hp2
HG00280.hp2
others(101): Show 
HG00099.hp1
HG00099.hp2
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00438.hp2
HG00621.hp1
HG00741.hp2
HG01070.hp2
HG01071.hp1
HG01081.hp2
HG01106.hp2
HG01109.hp1
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01346.hp2
HG01361.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp2
HG01884.hp2
HG01891.hp2
HG01928.hp2
HG01978.hp2
HG01981.hp2
HG02040.hp2
HG02056.hp2
HG02074.hp1
HG02083.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02572.hp2
HG02602.hp2
HG02723.hp1
HG02738.hp2
HG02895.hp1
HG02922.hp1
HG03139.hp1
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
NA18612.hp2
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18944.hp2
NA18945.hp2
NA18946.hp1
NA18950.hp2
NA18955.hp1
NA18957.hp1
NA18959.hp1
NA18961.hp2
NA18962.hp1
NA18967.hp2
NA18973.hp2
NA18977.hp1
NA18978.hp1
NA18978.hp2
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18986.hp1
NA18986.hp2
NA18987.hp2
NA18990.hp1
NA19009.hp2
NA19011.hp2
NA19064.hp1
NA19065.hp2
NA19066.hp2
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19079.hp2
NA19080.hp1
NA19087.hp2
NA19090.hp2
NA19091.hp2
NA20129.hp2
NA20300.hp1
 intron_variant MODIFIER c.1867-81C>T
c.1867-81C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 537257
chr17:537326 T
T
 A
A
 1 a0001c0002t0049g0048
a0001c0002t0049g0048
 1 HG02145.hp2
HG02145.hp2
 intron_variant MODIFIER c.1867-150A>T
c.1867-150A>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 537326
chr17:537341 T
T
 C
C
 2 a0001c0002t0013g0083
a0001c0002t0079g0086
a0001c0002t0013g0083
a0001c0002t0079g0086
 2 HG01106.hp1
NA20805.hp2
HG01106.hp1
NA20805.hp2
 intron_variant MODIFIER c.1867-165A>G
c.1867-165A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 537341
chr17:537369 C
C
 T
T
 3 a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0134g0154
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0134g0154
 3 HG01891.hp2
NA20129.hp2
NA20300.hp1
HG01891.hp2
NA20129.hp2
NA20300.hp1
 intron_variant MODIFIER c.1867-193G>A
c.1867-193G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 537369
chr17:537468 G
G
 A
A
 4 a0001c0001t0034g0126
a0001c0006t0039g0003
a0001c0006t0040g0002
others(1): Show 
a0001c0001t0034g0126
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
 4 HG01175.hp1
HG01256.hp2
HG01515.hp2
others(1): Show 
HG01175.hp1
HG01256.hp2
HG01515.hp2
HG01981.hp2
 intron_variant MODIFIER c.1867-292C>T
c.1867-292C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 537468
chr17:537538 C
C
 T
T
 14 a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0043g0064
others(11): Show 
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0043g0064
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0002c0003t0089g0175
a0003c0004t0047g0017
 14 HG02074.hp2
HG02135.hp2
HG02602.hp1
others(11): Show 
HG02074.hp2
HG02135.hp2
HG02602.hp1
NA18747.hp1
NA18944.hp1
NA18960.hp2
NA18994.hp1
NA18994.hp2
NA19000.hp2
NA19009.hp1
NA19010.hp2
NA19084.hp1
NA19087.hp1
NA19091.hp1
 intron_variant MODIFIER c.1867-362G>A
c.1867-362G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 537538
chr17:537599 C
C
 T
T
 4 a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0098g0147
others(1): Show 
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0098g0147
a0001c0002t0050g0049
 4 HG02280.hp1
HG02818.hp2
HG03225.hp2
others(1): Show 
HG02280.hp1
HG02818.hp2
HG03225.hp2
NA20300.hp2
 intron_variant MODIFIER c.1867-423G>A
c.1867-423G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 537599
chr17:537688 C
C
 T
T
 1 a0001c0002t0001g0066
a0001c0002t0001g0066
 1 HG04204.hp2
HG04204.hp2
 intron_variant MODIFIER c.1867-512G>A
c.1867-512G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 537688
chr17:537845 G
G
 A
A
 1 a0001c0001t0002g0139
a0001c0001t0002g0139
 1 NA19070.hp2
NA19070.hp2
 intron_variant MODIFIER c.1867-669C>T
c.1867-669C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 537845
chr17:537850 C
C
 T
T
 1 a0002c0003t0009g0188
a0002c0003t0009g0188
 1 NA19080.hp2
NA19080.hp2
 intron_variant MODIFIER c.1867-674G>A
c.1867-674G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 537850
chr17:537890 C
C
 T
T
 1 a0001c0002t0049g0048
a0001c0002t0049g0048
 1 HG02145.hp2
HG02145.hp2
 intron_variant MODIFIER c.1867-714G>A
c.1867-714G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 537890
chr17:537963 C
C
 T
T
 1 a0003c0004t0006g0033
a0003c0004t0006g0033
 1 NA18950.hp2
NA18950.hp2
 intron_variant MODIFIER c.1867-787G>A
c.1867-787G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 537963
chr17:537989 G
G
 A
A
 51 a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
others(48): Show 
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0097g0199
a0001c0001t0098g0147
a0001c0001t0105g0201
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0127g0159
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0048g0089
a0001c0002t0049g0048
a0001c0002t0050g0049
a0001c0002t0058g0052
a0001c0002t0086g0221
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0085g0184
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0104g0208
a0002c0003t0150g0191
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
 51 HG00423.hp2
HG01099.hp1
HG01109.hp2
others(48): Show 
HG00423.hp2
HG01099.hp1
HG01109.hp2
HG01167.hp1
HG01884.hp1
HG01891.hp1
HG01928.hp1
HG01981.hp1
HG02040.hp1
HG02056.hp1
HG02083.hp1
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02280.hp1
HG02293.hp1
HG02300.hp1
HG02622.hp1
HG02622.hp2
HG02723.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp2
HG02922.hp2
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03491.hp2
NA18612.hp1
NA18945.hp1
NA18948.hp2
NA18950.hp1
NA18959.hp2
NA18961.hp1
NA18962.hp2
NA18979.hp1
NA18987.hp1
NA19000.hp1
NA19007.hp1
NA19010.hp1
NA19060.hp1
NA19060.hp2
NA19065.hp1
NA19074.hp1
NA19080.hp2
NA19081.hp1
NA19084.hp2
NA19090.hp1
NA20129.hp1
NA20300.hp2
 intron_variant MODIFIER c.1867-813C>T
c.1867-813C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 537989
chr17:537991 A
A
 T
T
 2 a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0020g0005
a0001c0005t0020g0010
 2 NA19087.hp1
NA19091.hp1
NA19087.hp1
NA19091.hp1
 intron_variant MODIFIER c.1867-815T>A
c.1867-815T>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 537991
chr17:538035 A
A
 G
G
 69 a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
others(66): Show 
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0097g0199
a0001c0001t0098g0147
a0001c0001t0105g0201
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0127g0159
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0049g0048
a0001c0002t0050g0049
a0001c0002t0058g0052
a0001c0002t0078g0041
a0001c0002t0086g0221
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0011t0051g0091
a0001c0014t0135g0166
a0001c0016t0052g0099
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0085g0184
a0002c0003t0089g0175
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0104g0208
a0002c0003t0150g0191
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0047g0017
 69 HG00423.hp2
HG01074.hp2
HG01099.hp1
others(66): Show 
HG00423.hp2
HG01074.hp2
HG01099.hp1
HG01109.hp2
HG01167.hp1
HG01168.hp2
HG01884.hp1
HG01891.hp1
HG01928.hp1
HG01981.hp1
HG02040.hp1
HG02056.hp1
HG02074.hp2
HG02083.hp1
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02280.hp1
HG02293.hp1
HG02300.hp1
HG02572.hp1
HG02602.hp1
HG02622.hp1
HG02622.hp2
HG02723.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp2
HG02922.hp2
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03491.hp2
HG03516.hp2
NA18612.hp1
NA18747.hp1
NA18944.hp1
NA18945.hp1
NA18948.hp2
NA18950.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp1
NA18962.hp2
NA18979.hp1
NA18987.hp1
NA18994.hp1
NA18994.hp2
NA19000.hp1
NA19000.hp2
NA19007.hp1
NA19009.hp1
NA19010.hp1
NA19010.hp2
NA19060.hp1
NA19060.hp2
NA19065.hp1
NA19074.hp1
NA19080.hp2
NA19081.hp1
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19090.hp1
NA19091.hp1
NA20129.hp1
NA20300.hp2
 intron_variant MODIFIER c.1867-859T>C
c.1867-859T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 538035
chr17:538050 T
T
 C
C
 2 a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0101g0200
a0001c0001t0102g0220
 2 HG02572.hp2
HG03139.hp1
HG02572.hp2
HG03139.hp1
 intron_variant MODIFIER c.1867-874A>G
c.1867-874A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 538050
chr17:538204 G
G
 A
A
 1 a0001c0002t0050g0049
a0001c0002t0050g0049
 1 HG02280.hp1
HG02280.hp1
 intron_variant MODIFIER c.1867-1028C>T
c.1867-1028C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 538204
chr17:538239 C
C
 T
T
 1 a0003c0004t0081g0035
a0003c0004t0081g0035
 1 NA21309.hp2
NA21309.hp2
 intron_variant MODIFIER c.1867-1063G>A
c.1867-1063G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 538239
chr17:538273 AG
AG
 A
A
 3 a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0134g0154
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0134g0154
 3 HG01891.hp2
NA20129.hp2
NA20300.hp1
HG01891.hp2
NA20129.hp2
NA20300.hp1
 intron_variant MODIFIER c.1867-1098delC
c.1867-1098delC
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 538273
chr17:538295 T
T
 TTCTGCTG
others(39): Show 
TTCTGCTGAGTCAGCCTTTCACAGTGGAGCTGGACGGTCTGGAGGGC
 2 a0001c0005t0010g0008
a0001c0005t0045g0009
a0001c0005t0010g0008
a0001c0005t0045g0009
 2 HG02135.hp2
NA18747.hp1
HG02135.hp2
NA18747.hp1
 intron_variant MODIFIER c.1867-1165_1867-112
others(50): Show 
c.1867-1165_1867-1120dupGCCCTCCAGACCGTCCAGCTCCACTG
TGAAAGGCTGACTCAGCAGA
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 538295
chr17:538304 G
G
 A
A
 1 a0001c0001t0034g0126
a0001c0001t0034g0126
 1 HG01256.hp2
HG01256.hp2
 intron_variant MODIFIER c.1867-1128C>T
c.1867-1128C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 538304
chr17:538389 G
G
 A
A
 22 a0001c0002t0022g0085
a0001c0002t0055g0084
a0001c0002t0100g0223
others(19): Show 
a0001c0002t0022g0085
a0001c0002t0055g0084
a0001c0002t0100g0223
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0004c0008t0103g0227
 22 HG02074.hp1
HG03831.hp2
NA18612.hp2
others(19): Show 
HG02074.hp1
HG03831.hp2
NA18612.hp2
NA18906.hp2
NA18940.hp1
NA18944.hp2
NA18950.hp2
NA18957.hp1
NA18959.hp1
NA18961.hp2
NA18962.hp1
NA18973.hp2
NA18977.hp1
NA18978.hp1
NA18984.hp1
NA18986.hp2
NA18990.hp1
NA19011.hp2
NA19064.hp1
NA19080.hp1
NA19087.hp2
NA19091.hp2
 intron_variant MODIFIER c.1867-1213C>T
c.1867-1213C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 538389
chr17:538428 A
A
 C
C
 1 a0001c0002t0049g0048
a0001c0002t0049g0048
 1 HG02145.hp2
HG02145.hp2
 intron_variant MODIFIER c.1867-1252T>G
c.1867-1252T>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 538428
chr17:538608 G
G
 A
A
 1 a0001c0002t0005g0061
a0001c0002t0005g0061
 1 HG02135.hp1
HG02135.hp1
 intron_variant MODIFIER c.1867-1432C>T
c.1867-1432C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 538608
chr17:538897 C
C
 T
T
 11 a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0033g0205
others(8): Show 
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0097g0199
a0001c0001t0105g0201
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0127g0159
 11 HG01109.hp2
HG01884.hp1
HG01891.hp1
others(8): Show 
HG01109.hp2
HG01884.hp1
HG01891.hp1
HG02622.hp2
HG02818.hp1
HG02886.hp2
HG02895.hp2
HG02922.hp2
HG03139.hp2
HG03225.hp1
NA20129.hp1
 intron_variant MODIFIER c.1867-1721G>A
c.1867-1721G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 538897
chr17:539045 C
C
 T
T
 1 a0002c0003t0092g0190
a0002c0003t0092g0190
 1 NA19084.hp2
NA19084.hp2
 intron_variant MODIFIER c.1867-1869G>A
c.1867-1869G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 539045
chr17:539121 G
G
 A
A
 69 a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
others(66): Show 
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0097g0199
a0001c0001t0098g0147
a0001c0001t0105g0201
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0127g0159
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0049g0048
a0001c0002t0050g0049
a0001c0002t0058g0052
a0001c0002t0078g0041
a0001c0002t0086g0221
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0011t0051g0091
a0001c0014t0135g0166
a0001c0016t0052g0099
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0085g0184
a0002c0003t0089g0175
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0104g0208
a0002c0003t0150g0191
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0047g0017
 69 HG00423.hp2
HG01074.hp2
HG01099.hp1
others(66): Show 
HG00423.hp2
HG01074.hp2
HG01099.hp1
HG01109.hp2
HG01167.hp1
HG01168.hp2
HG01884.hp1
HG01891.hp1
HG01928.hp1
HG01981.hp1
HG02040.hp1
HG02056.hp1
HG02074.hp2
HG02083.hp1
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02280.hp1
HG02293.hp1
HG02300.hp1
HG02572.hp1
HG02602.hp1
HG02622.hp1
HG02622.hp2
HG02723.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp2
HG02922.hp2
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03491.hp2
HG03516.hp2
NA18612.hp1
NA18747.hp1
NA18944.hp1
NA18945.hp1
NA18948.hp2
NA18950.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp1
NA18962.hp2
NA18979.hp1
NA18987.hp1
NA18994.hp1
NA18994.hp2
NA19000.hp1
NA19000.hp2
NA19007.hp1
NA19009.hp1
NA19010.hp1
NA19010.hp2
NA19060.hp1
NA19060.hp2
NA19065.hp1
NA19074.hp1
NA19080.hp2
NA19081.hp1
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19090.hp1
NA19091.hp1
NA20129.hp1
NA20300.hp2
 intron_variant MODIFIER c.1867-1945C>T
c.1867-1945C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 539121
chr17:539625 G
G
 A
A
 1 a0001c0002t0078g0041
a0001c0002t0078g0041
 1 HG03516.hp2
HG03516.hp2
 intron_variant MODIFIER c.1867-2449C>T
c.1867-2449C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 539625
chr17:539894 T
T
 G
G
 16 a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0043g0064
others(13): Show 
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0043g0064
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0011t0051g0091
a0001c0016t0052g0099
a0002c0003t0089g0175
a0003c0004t0047g0017
 16 HG01074.hp2
HG01168.hp2
HG02074.hp2
others(13): Show 
HG01074.hp2
HG01168.hp2
HG02074.hp2
HG02135.hp2
HG02602.hp1
NA18747.hp1
NA18944.hp1
NA18960.hp2
NA18994.hp1
NA18994.hp2
NA19000.hp2
NA19009.hp1
NA19010.hp2
NA19084.hp1
NA19087.hp1
NA19091.hp1
 intron_variant MODIFIER c.1867-2718A>C
c.1867-2718A>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 539894
chr17:539958 C
C
 A
A
 1 a0002c0003t0085g0184
a0002c0003t0085g0184
 1 HG03491.hp2
HG03491.hp2
 intron_variant MODIFIER c.1867-2782G>T
c.1867-2782G>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 539958
chr17:540057 T
T
 G
G
 53 a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
others(50): Show 
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0097g0199
a0001c0001t0098g0147
a0001c0001t0105g0201
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0127g0159
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0048g0089
a0001c0002t0049g0048
a0001c0002t0050g0049
a0001c0002t0058g0052
a0001c0002t0078g0041
a0001c0002t0086g0221
a0001c0014t0135g0166
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0085g0184
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0104g0208
a0002c0003t0150g0191
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
 53 HG00423.hp2
HG01099.hp1
HG01109.hp2
others(50): Show 
HG00423.hp2
HG01099.hp1
HG01109.hp2
HG01167.hp1
HG01884.hp1
HG01891.hp1
HG01928.hp1
HG01981.hp1
HG02040.hp1
HG02056.hp1
HG02083.hp1
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02280.hp1
HG02293.hp1
HG02300.hp1
HG02572.hp1
HG02622.hp1
HG02622.hp2
HG02723.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp2
HG02922.hp2
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03491.hp2
HG03516.hp2
NA18612.hp1
NA18945.hp1
NA18948.hp2
NA18950.hp1
NA18959.hp2
NA18961.hp1
NA18962.hp2
NA18979.hp1
NA18987.hp1
NA19000.hp1
NA19007.hp1
NA19010.hp1
NA19060.hp1
NA19060.hp2
NA19065.hp1
NA19074.hp1
NA19080.hp2
NA19081.hp1
NA19084.hp2
NA19090.hp1
NA20129.hp1
NA20300.hp2
 intron_variant MODIFIER c.1867-2881A>C
c.1867-2881A>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 540057
chr17:540059 C
C
 G
G
 1 a0002c0003t0018g0231
a0002c0003t0018g0231
 1 HG03942.hp1
HG03942.hp1
 intron_variant MODIFIER c.1867-2883G>C
c.1867-2883G>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 540059
chr17:540073 C
C
 G
G
 1 a0001c0001t0030g0120
a0001c0001t0030g0120
 1 HG01884.hp2
HG01884.hp2
 intron_variant MODIFIER c.1867-2897G>C
c.1867-2897G>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 540073
chr17:540076 C
C
 T
T
 1 a0001c0002t0035g0219
a0001c0002t0035g0219
 1 HG00438.hp1
HG00438.hp1
 intron_variant MODIFIER c.1867-2900G>A
c.1867-2900G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 540076
chr17:540174 A
A
 C
C
 53 a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
others(50): Show 
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0097g0199
a0001c0001t0098g0147
a0001c0001t0105g0201
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0127g0159
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0048g0089
a0001c0002t0049g0048
a0001c0002t0050g0049
a0001c0002t0058g0052
a0001c0002t0078g0041
a0001c0002t0086g0221
a0001c0014t0135g0166
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0085g0184
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0104g0208
a0002c0003t0150g0191
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
 53 HG00423.hp2
HG01099.hp1
HG01109.hp2
others(50): Show 
HG00423.hp2
HG01099.hp1
HG01109.hp2
HG01167.hp1
HG01884.hp1
HG01891.hp1
HG01928.hp1
HG01981.hp1
HG02040.hp1
HG02056.hp1
HG02083.hp1
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02280.hp1
HG02293.hp1
HG02300.hp1
HG02572.hp1
HG02622.hp1
HG02622.hp2
HG02723.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp2
HG02922.hp2
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03491.hp2
HG03516.hp2
NA18612.hp1
NA18945.hp1
NA18948.hp2
NA18950.hp1
NA18959.hp2
NA18961.hp1
NA18962.hp2
NA18979.hp1
NA18987.hp1
NA19000.hp1
NA19007.hp1
NA19010.hp1
NA19060.hp1
NA19060.hp2
NA19065.hp1
NA19074.hp1
NA19080.hp2
NA19081.hp1
NA19084.hp2
NA19090.hp1
NA20129.hp1
NA20300.hp2
 intron_variant MODIFIER c.1867-2998T>G
c.1867-2998T>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 540174
chr17:540196 A
A
 AT
AT
 16 a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0043g0064
others(13): Show 
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0043g0064
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0011t0051g0091
a0001c0016t0052g0099
a0002c0003t0089g0175
a0003c0004t0047g0017
 16 HG01074.hp2
HG01168.hp2
HG02074.hp2
others(13): Show 
HG01074.hp2
HG01168.hp2
HG02074.hp2
HG02135.hp2
HG02602.hp1
NA18747.hp1
NA18944.hp1
NA18960.hp2
NA18994.hp1
NA18994.hp2
NA19000.hp2
NA19009.hp1
NA19010.hp2
NA19084.hp1
NA19087.hp1
NA19091.hp1
 intron_variant MODIFIER c.1867-3021dupA
c.1867-3021dupA
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 540196
chr17:540196 A
A
 T
T
 32 a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0002t0022g0085
others(29): Show 
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0002t0022g0085
a0001c0002t0055g0084
a0001c0002t0100g0223
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0053g0102
a0001c0006t0057g0103
a0002c0003t0099g0192
a0002c0003t0145g0187
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0004c0008t0103g0227
 32 HG00099.hp2
HG00280.hp2
HG00438.hp2
others(29): Show 
HG00099.hp2
HG00280.hp2
HG00438.hp2
HG01515.hp2
HG01981.hp2
HG02074.hp1
HG02572.hp2
HG03139.hp1
HG03491.hp1
HG03492.hp1
HG03831.hp2
HG04199.hp1
NA18612.hp2
NA18906.hp2
NA18940.hp1
NA18944.hp2
NA18950.hp2
NA18957.hp1
NA18959.hp1
NA18961.hp2
NA18962.hp1
NA18973.hp2
NA18977.hp1
NA18978.hp1
NA18984.hp1
NA18986.hp2
NA18990.hp1
NA19011.hp2
NA19064.hp1
NA19080.hp1
NA19087.hp2
NA19091.hp2
 intron_variant MODIFIER c.1867-3020T>A
c.1867-3020T>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 540196
chr17:540287 A
A
 G
G
 173 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(170): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0032g0114
a0001c0001t0032g0204
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0034g0126
a0001c0001t0034g0162
a0001c0001t0069g0012
a0001c0001t0084g0046
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0097g0199
a0001c0001t0098g0147
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0105g0201
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0108g0148
a0001c0001t0110g0127
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0118g0195
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0122g0160
a0001c0001t0127g0159
a0001c0001t0128g0132
a0001c0001t0134g0154
a0001c0001t0138g0161
a0001c0001t0141g0165
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0022g0085
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0049g0048
a0001c0002t0050g0049
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0078g0041
a0001c0002t0086g0221
a0001c0002t0100g0223
a0001c0002t0109g0222
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0001c0011t0051g0091
a0001c0014t0135g0166
a0001c0015t0126g0149
a0001c0016t0052g0099
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0018g0231
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0085g0184
a0002c0003t0089g0175
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0099g0192
a0002c0003t0104g0208
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0145g0187
a0002c0003t0146g0170
a0002c0003t0148g0174
a0002c0003t0150g0191
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0004c0008t0036g0207
a0004c0008t0103g0227
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
a0006c0012t0129g0140
a0007c0013t0132g0163
 173 HG00099.hp1
HG00099.hp2
HG00280.hp2
others(170): Show 
HG00099.hp1
HG00099.hp2
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp2
HG00621.hp1
HG00741.hp2
HG01070.hp2
HG01071.hp1
HG01074.hp2
HG01081.hp2
HG01099.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01346.hp2
HG01361.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02056.hp1
HG02056.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18955.hp1
NA18957.hp1
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18967.hp2
NA18973.hp2
NA18977.hp1
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18990.hp1
NA18994.hp1
NA18994.hp2
NA19000.hp1
NA19000.hp2
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19065.hp1
NA19065.hp2
NA19066.hp2
NA19068.hp2
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19087.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
 intron_variant MODIFIER c.1867-3111T>C
c.1867-3111T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 540287
chr17:540405 G
G
 A
A
 2 a0001c0002t0076g0050
a0002c0003t0037g0168
a0001c0002t0076g0050
a0002c0003t0037g0168
 2 HG02132.hp1
NA18973.hp1
HG02132.hp1
NA18973.hp1
 intron_variant MODIFIER c.1867-3229C>T
c.1867-3229C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 540405
chr17:540419 G
G
 A
A
 2 a0001c0002t0078g0041
a0001c0014t0135g0166
a0001c0002t0078g0041
a0001c0014t0135g0166
 2 HG02572.hp1
HG03516.hp2
HG02572.hp1
HG03516.hp2
 intron_variant MODIFIER c.1867-3243C>T
c.1867-3243C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 540419
chr17:540443 A
A
 C
C
 1 a0003c0004t0004g0025
a0003c0004t0004g0025
 1 NA18612.hp2
NA18612.hp2
 intron_variant MODIFIER c.1867-3267T>G
c.1867-3267T>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 540443
chr17:540540 C
C
 T
T
 1 a0001c0006t0057g0103
a0001c0006t0057g0103
 1 HG00280.hp2
HG00280.hp2
 intron_variant MODIFIER c.1867-3364G>A
c.1867-3364G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 540540
chr17:540658 T
T
 C
C
 17 a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0043g0064
others(14): Show 
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0043g0064
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0011t0051g0091
a0001c0016t0052g0099
a0002c0003t0018g0231
a0002c0003t0089g0175
a0003c0004t0047g0017
 17 HG01074.hp2
HG01168.hp2
HG02074.hp2
others(14): Show 
HG01074.hp2
HG01168.hp2
HG02074.hp2
HG02135.hp2
HG02602.hp1
HG03942.hp1
NA18747.hp1
NA18944.hp1
NA18960.hp2
NA18994.hp1
NA18994.hp2
NA19000.hp2
NA19009.hp1
NA19010.hp2
NA19084.hp1
NA19087.hp1
NA19091.hp1
 intron_variant MODIFIER c.1867-3482A>G
c.1867-3482A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 540658
chr17:540818 T
T
 G
G
 43 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(40): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0069g0012
a0001c0001t0084g0046
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0110g0127
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0128g0132
a0001c0001t0134g0154
a0001c0002t0109g0222
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0006c0012t0129g0140
 43 HG00099.hp1
HG00741.hp2
HG01081.hp2
others(40): Show 
HG00099.hp1
HG00741.hp2
HG01081.hp2
HG01175.hp2
HG01192.hp2
HG01255.hp2
HG01361.hp2
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp2
HG01891.hp2
HG01928.hp2
HG01978.hp2
HG02040.hp2
HG02056.hp2
HG02083.hp2
HG02109.hp2
HG02129.hp2
HG02132.hp2
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02602.hp2
HG03492.hp2
HG03516.hp1
HG03688.hp2
HG04184.hp2
HG04199.hp2
NA18940.hp2
NA18945.hp2
NA18967.hp2
NA18978.hp2
NA18983.hp2
NA18987.hp2
NA19009.hp2
NA19065.hp2
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19079.hp2
NA20129.hp2
NA20300.hp1
 intron_variant MODIFIER c.1867-3642A>C
c.1867-3642A>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 540818
chr17:540838 T
T
 C
C
 69 a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
others(66): Show 
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0097g0199
a0001c0001t0098g0147
a0001c0001t0105g0201
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0127g0159
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0049g0048
a0001c0002t0050g0049
a0001c0002t0058g0052
a0001c0002t0078g0041
a0001c0002t0086g0221
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0011t0051g0091
a0001c0014t0135g0166
a0001c0016t0052g0099
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0085g0184
a0002c0003t0089g0175
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0104g0208
a0002c0003t0150g0191
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0047g0017
 69 HG00423.hp2
HG01074.hp2
HG01099.hp1
others(66): Show 
HG00423.hp2
HG01074.hp2
HG01099.hp1
HG01109.hp2
HG01167.hp1
HG01168.hp2
HG01884.hp1
HG01891.hp1
HG01928.hp1
HG01981.hp1
HG02040.hp1
HG02056.hp1
HG02074.hp2
HG02083.hp1
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02280.hp1
HG02293.hp1
HG02300.hp1
HG02572.hp1
HG02602.hp1
HG02622.hp1
HG02622.hp2
HG02723.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp2
HG02922.hp2
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03491.hp2
HG03516.hp2
NA18612.hp1
NA18747.hp1
NA18944.hp1
NA18945.hp1
NA18948.hp2
NA18950.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp1
NA18962.hp2
NA18979.hp1
NA18987.hp1
NA18994.hp1
NA18994.hp2
NA19000.hp1
NA19000.hp2
NA19007.hp1
NA19009.hp1
NA19010.hp1
NA19010.hp2
NA19060.hp1
NA19060.hp2
NA19065.hp1
NA19074.hp1
NA19080.hp2
NA19081.hp1
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19090.hp1
NA19091.hp1
NA20129.hp1
NA20300.hp2
 intron_variant MODIFIER c.1867-3662A>G
c.1867-3662A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 540838
chr17:540841 G
G
 A
A
 3 a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0106g0117
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0106g0117
 3 HG01884.hp2
HG02109.hp2
HG02280.hp2
HG01884.hp2
HG02109.hp2
HG02280.hp2
 intron_variant MODIFIER c.1867-3665C>T
c.1867-3665C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 540841
chr17:540995 T
T
 C
C
 53 a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
others(50): Show 
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0097g0199
a0001c0001t0098g0147
a0001c0001t0105g0201
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0127g0159
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0048g0089
a0001c0002t0049g0048
a0001c0002t0050g0049
a0001c0002t0058g0052
a0001c0002t0078g0041
a0001c0002t0086g0221
a0001c0014t0135g0166
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0085g0184
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0104g0208
a0002c0003t0150g0191
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
 53 HG00423.hp2
HG01099.hp1
HG01109.hp2
others(50): Show 
HG00423.hp2
HG01099.hp1
HG01109.hp2
HG01167.hp1
HG01884.hp1
HG01891.hp1
HG01928.hp1
HG01981.hp1
HG02040.hp1
HG02056.hp1
HG02083.hp1
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02280.hp1
HG02293.hp1
HG02300.hp1
HG02572.hp1
HG02622.hp1
HG02622.hp2
HG02723.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp2
HG02922.hp2
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03491.hp2
HG03516.hp2
NA18612.hp1
NA18945.hp1
NA18948.hp2
NA18950.hp1
NA18959.hp2
NA18961.hp1
NA18962.hp2
NA18979.hp1
NA18987.hp1
NA19000.hp1
NA19007.hp1
NA19010.hp1
NA19060.hp1
NA19060.hp2
NA19065.hp1
NA19074.hp1
NA19080.hp2
NA19081.hp1
NA19084.hp2
NA19090.hp1
NA20129.hp1
NA20300.hp2
 intron_variant MODIFIER c.1867-3819A>G
c.1867-3819A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 540995
chr17:541277 T
T
 C
C
 173 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(170): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0032g0114
a0001c0001t0032g0204
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0034g0126
a0001c0001t0034g0162
a0001c0001t0069g0012
a0001c0001t0084g0046
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0097g0199
a0001c0001t0098g0147
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0105g0201
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0108g0148
a0001c0001t0110g0127
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0118g0195
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0122g0160
a0001c0001t0127g0159
a0001c0001t0128g0132
a0001c0001t0134g0154
a0001c0001t0138g0161
a0001c0001t0141g0165
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0022g0085
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0049g0048
a0001c0002t0050g0049
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0078g0041
a0001c0002t0086g0221
a0001c0002t0100g0223
a0001c0002t0109g0222
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0001c0011t0051g0091
a0001c0014t0135g0166
a0001c0015t0126g0149
a0001c0016t0052g0099
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0018g0231
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0085g0184
a0002c0003t0089g0175
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0099g0192
a0002c0003t0104g0208
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0145g0187
a0002c0003t0146g0170
a0002c0003t0148g0174
a0002c0003t0150g0191
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0004c0008t0036g0207
a0004c0008t0103g0227
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
a0006c0012t0129g0140
a0007c0013t0132g0163
 173 HG00099.hp1
HG00099.hp2
HG00280.hp2
others(170): Show 
HG00099.hp1
HG00099.hp2
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp2
HG00621.hp1
HG00741.hp2
HG01070.hp2
HG01071.hp1
HG01074.hp2
HG01081.hp2
HG01099.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01346.hp2
HG01361.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02056.hp1
HG02056.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18955.hp1
NA18957.hp1
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18967.hp2
NA18973.hp2
NA18977.hp1
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18990.hp1
NA18994.hp1
NA18994.hp2
NA19000.hp1
NA19000.hp2
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19065.hp1
NA19065.hp2
NA19066.hp2
NA19068.hp2
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19087.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
 intron_variant MODIFIER c.1867-4101A>G
c.1867-4101A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 541277
chr17:541278 G
G
 A
A
 1 a0001c0002t0050g0049
a0001c0002t0050g0049
 1 HG02280.hp1
HG02280.hp1
 intron_variant MODIFIER c.1867-4102C>T
c.1867-4102C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 541278
chr17:541477 T
T
 C
C
 3 a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0106g0117
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0106g0117
 3 HG01884.hp2
HG02109.hp2
HG02280.hp2
HG01884.hp2
HG02109.hp2
HG02280.hp2
 intron_variant MODIFIER c.1867-4301A>G
c.1867-4301A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 541477
chr17:541511 C
C
 G
G
 1 a0001c0006t0040g0002
a0001c0006t0040g0002
 1 HG01981.hp2
HG01981.hp2
 intron_variant MODIFIER c.1867-4335G>C
c.1867-4335G>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 541511
chr17:541523 G
G
 A
A
 16 a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0043g0064
others(13): Show 
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0043g0064
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0011t0051g0091
a0001c0016t0052g0099
a0002c0003t0089g0175
a0003c0004t0047g0017
 16 HG01074.hp2
HG01168.hp2
HG02074.hp2
others(13): Show 
HG01074.hp2
HG01168.hp2
HG02074.hp2
HG02135.hp2
HG02602.hp1
NA18747.hp1
NA18944.hp1
NA18960.hp2
NA18994.hp1
NA18994.hp2
NA19000.hp2
NA19009.hp1
NA19010.hp2
NA19084.hp1
NA19087.hp1
NA19091.hp1
 intron_variant MODIFIER c.1867-4347C>T
c.1867-4347C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 541523
chr17:541587 C
C
 T
T
 2 a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0021g0100
a0001c0006t0021g0101
 2 HG03491.hp1
HG03492.hp1
HG03491.hp1
HG03492.hp1
 intron_variant MODIFIER c.1867-4411G>A
c.1867-4411G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 541587
chr17:541666 G
G
 GCTGAAGG
others(132): Show 
GCTGAAGGAATGTTTATCAAGCACCTACCATGCACCAGGGGCTGAAGGAA
TGTTTATCAAGCACCTACTACGCACTGAAGGAATGTTTATCAAGCACCTA
CTACGCACTGAAGGAATGTTTATCAAGCACCTACCACGCA
 1 a0007c0013t0132g0163
a0007c0013t0132g0163
 1 HG04204.hp1
HG04204.hp1
 intron_variant MODIFIER c.1867-4491_1867-449
others(143): Show 
c.1867-4491_1867-4490insTGCGTGGTAGGTGCTTGATAAACATT
CCTTCAGTGCGTAGTAGGTGCTTGATAAACATTCCTTCAGTGCGTAGTAG
GTGCTTGATAAACATTCCTTCAGCCCCTGGTGCATGGTAGGTGCTTGATA
AACATTCCTTCAG
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 541666
chr17:541666 G
G
 GCTGAAGG
others(132): Show 
GCTGAAGGACTGTTTATCAAGCACCTACCACGCACCAGGGGCTGAAGGAA
TGTTTATCAAGCACCTACTACGCACTGAAGGAATGTTTATCAAGCACCTA
CTACGCACTGAAGGAATGTTTATCAAGCACCTACCACGCA
 1 a0001c0002t0007g0063
a0001c0002t0007g0063
 1 NA18962.hp2
NA18962.hp2
 intron_variant MODIFIER c.1867-4491_1867-449
others(143): Show 
c.1867-4491_1867-4490insTGCGTGGTAGGTGCTTGATAAACATT
CCTTCAGTGCGTAGTAGGTGCTTGATAAACATTCCTTCAGTGCGTAGTAG
GTGCTTGATAAACATTCCTTCAGCCCCTGGTGCGTGGTAGGTGCTTGATA
AACAGTCCTTCAG
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 541666
chr17:541705 G
G
 C
C
 2 a0001c0002t0007g0063
a0007c0013t0132g0163
a0001c0002t0007g0063
a0007c0013t0132g0163
 2 HG04204.hp1
NA18962.hp2
HG04204.hp1
NA18962.hp2
 intron_variant MODIFIER c.1867-4529C>G
c.1867-4529C>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 541705
chr17:541705 G
G
 GGCTGAAG
others(132): Show 
GGCTGAAGGAATGTTTATCAAGCACCTACTACGCACTGAAGGAATGTTTA
TCAAGCACCTACTACGCACTGAAGGAATGTTTATCAAGCACCTACCACGC
ACTGAAGGAATGTTTATCAAGCACCTACCACGCACCAGGC
 167 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0134
others(164): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0032g0114
a0001c0001t0032g0204
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0034g0126
a0001c0001t0034g0162
a0001c0001t0069g0012
a0001c0001t0084g0046
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0097g0199
a0001c0001t0098g0147
a0001c0001t0105g0201
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0108g0148
a0001c0001t0110g0127
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0118g0195
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0122g0160
a0001c0001t0127g0159
a0001c0001t0128g0132
a0001c0001t0134g0154
a0001c0001t0138g0161
a0001c0001t0141g0165
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0022g0085
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0049g0048
a0001c0002t0050g0049
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0078g0041
a0001c0002t0086g0221
a0001c0002t0100g0223
a0001c0002t0109g0222
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0001c0011t0051g0091
a0001c0014t0135g0166
a0001c0015t0126g0149
a0001c0016t0052g0099
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0018g0231
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0085g0184
a0002c0003t0089g0175
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0099g0192
a0002c0003t0104g0208
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0145g0187
a0002c0003t0146g0170
a0002c0003t0148g0174
a0002c0003t0150g0191
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0004c0008t0036g0207
a0004c0008t0103g0227
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
a0006c0012t0129g0140
 167 HG00099.hp1
HG00099.hp2
HG00280.hp2
others(164): Show 
HG00099.hp1
HG00099.hp2
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp2
HG00621.hp1
HG00741.hp2
HG01070.hp2
HG01071.hp1
HG01074.hp2
HG01081.hp2
HG01099.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01346.hp2
HG01361.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02056.hp1
HG02056.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02572.hp1
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18906.hp2
NA18940.hp1
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18955.hp1
NA18957.hp1
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18967.hp2
NA18973.hp2
NA18977.hp1
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18990.hp1
NA18994.hp1
NA18994.hp2
NA19000.hp1
NA19000.hp2
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19065.hp1
NA19065.hp2
NA19066.hp2
NA19068.hp2
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19087.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
 intron_variant MODIFIER c.1867-4530_1867-452
others(143): Show 
c.1867-4530_1867-4529insGCCTGGTGCGTGGTAGGTGCTTGATA
AACATTCCTTCAGTGCGTGGTAGGTGCTTGATAAACATTCCTTCAGTGCG
TAGTAGGTGCTTGATAAACATTCCTTCAGTGCGTAGTAGGTGCTTGATAA
ACATTCCTTCAGC
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 541705
chr17:541705 G
G
 GGCTGAAG
others(132): Show 
GGCTGAAGGAATGTTTATCAAGCACGTACTACGCACTGAAGGAATGTTTA
TCAAGCACCTACTACGCACTGAAGGAATGTTTATCAAGCACCTACCACGC
ACTGAAGGAATGTTTATCAAGCACCTACCACGCACCAGGC
 1 a0001c0001t0002g0133
a0001c0001t0002g0133
 1 HG02040.hp2
HG02040.hp2
 intron_variant MODIFIER c.1867-4530_1867-452
others(143): Show 
c.1867-4530_1867-4529insGCCTGGTGCGTGGTAGGTGCTTGATA
AACATTCCTTCAGTGCGTGGTAGGTGCTTGATAAACATTCCTTCAGTGCG
TAGTAGGTGCTTGATAAACATTCCTTCAGTGCGTAGTACGTGCTTGATAA
ACATTCCTTCAGC
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 541705
chr17:541706 G
G
 GCTGAAGG
others(165): Show 
GCTGAAGGAATGTTTATCAAGCACGTACTACGCACTGAAGGAATGTTTAT
CAAGCACCTACTACGCACTGAAGGAATGTTTATCAAGCACCTACCACGCA
CTGAAGGAATGTTTATCAAGCACCTACCACGCACCAGGCGCTGAAGGAAT
GTTTATCAAGCACCGACTACGCA
 1 a0001c0001t0002g0210
a0001c0001t0002g0210
 1 NA18940.hp2
NA18940.hp2
 intron_variant MODIFIER c.1867-4531_1867-453
others(176): Show 
c.1867-4531_1867-4530insTGCGTAGTCGGTGCTTGATAAACATT
CCTTCAGCGCCTGGTGCGTGGTAGGTGCTTGATAAACATTCCTTCAGTGC
GTGGTAGGTGCTTGATAAACATTCCTTCAGTGCGTAGTAGGTGCTTGATA
AACATTCCTTCAGTGCGTAGTACGTGCTTGATAAACATTCCTTCAG
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 541706
chr17:541731 G
G
 T
T
 2 a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0101g0200
a0001c0001t0102g0220
 2 HG02572.hp2
HG03139.hp1
HG02572.hp2
HG03139.hp1
 intron_variant MODIFIER c.1867-4555C>A
c.1867-4555C>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 541731
chr17:541760 G
G
 C
C
 2 a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0101g0200
a0001c0001t0102g0220
 2 HG02572.hp2
HG03139.hp1
HG02572.hp2
HG03139.hp1
 intron_variant MODIFIER c.1867-4584C>G
c.1867-4584C>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 541760
chr17:541767 C
C
 T
T
 2 a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0101g0200
a0001c0001t0102g0220
 2 HG02572.hp2
HG03139.hp1
HG02572.hp2
HG03139.hp1
 intron_variant MODIFIER c.1867-4591G>A
c.1867-4591G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 541767
chr17:541775 G
G
 A
A
 1 a0003c0004t0003g0015
a0003c0004t0003g0015
 1 HG01257.hp2
HG01257.hp2
 intron_variant MODIFIER c.1867-4599C>T
c.1867-4599C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 541775
chr17:541778 C
C
 G
G
 1 a0003c0004t0003g0015
a0003c0004t0003g0015
 1 HG01257.hp2
HG01257.hp2
 intron_variant MODIFIER c.1867-4602G>C
c.1867-4602G>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 541778
chr17:541789 C
C
 T
T
 3 a0001c0001t0101g0200
a0001c0001t0102g0220
a0003c0004t0003g0015
a0001c0001t0101g0200
a0001c0001t0102g0220
a0003c0004t0003g0015
 3 HG01257.hp2
HG02572.hp2
HG03139.hp1
HG01257.hp2
HG02572.hp2
HG03139.hp1
 intron_variant MODIFIER c.1867-4613G>A
c.1867-4613G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 541789
chr17:541803 C
C
 G
G
 1 a0003c0004t0003g0015
a0003c0004t0003g0015
 1 HG01257.hp2
HG01257.hp2
 intron_variant MODIFIER c.1867-4627G>C
c.1867-4627G>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 541803
chr17:541807 C
C
 T
T
 1 a0003c0004t0003g0015
a0003c0004t0003g0015
 1 HG01257.hp2
HG01257.hp2
 intron_variant MODIFIER c.1867-4631G>A
c.1867-4631G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 541807
chr17:541822 C
C
 T
T
 2 a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0101g0200
a0001c0001t0102g0220
 2 HG02572.hp2
HG03139.hp1
HG02572.hp2
HG03139.hp1
 intron_variant MODIFIER c.1867-4646G>A
c.1867-4646G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 541822
chr17:541833 G
G
 C
C
 71 a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
others(68): Show 
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0097g0199
a0001c0001t0098g0147
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0105g0201
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0127g0159
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0049g0048
a0001c0002t0050g0049
a0001c0002t0058g0052
a0001c0002t0078g0041
a0001c0002t0086g0221
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0011t0051g0091
a0001c0014t0135g0166
a0001c0016t0052g0099
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0085g0184
a0002c0003t0089g0175
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0104g0208
a0002c0003t0150g0191
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0047g0017
 71 HG00423.hp2
HG01074.hp2
HG01099.hp1
others(68): Show 
HG00423.hp2
HG01074.hp2
HG01099.hp1
HG01109.hp2
HG01167.hp1
HG01168.hp2
HG01884.hp1
HG01891.hp1
HG01928.hp1
HG01981.hp1
HG02040.hp1
HG02056.hp1
HG02074.hp2
HG02083.hp1
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02280.hp1
HG02293.hp1
HG02300.hp1
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02622.hp1
HG02622.hp2
HG02723.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp2
HG02922.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03491.hp2
HG03516.hp2
NA18612.hp1
NA18747.hp1
NA18944.hp1
NA18945.hp1
NA18948.hp2
NA18950.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp1
NA18962.hp2
NA18979.hp1
NA18987.hp1
NA18994.hp1
NA18994.hp2
NA19000.hp1
NA19000.hp2
NA19007.hp1
NA19009.hp1
NA19010.hp1
NA19010.hp2
NA19060.hp1
NA19060.hp2
NA19065.hp1
NA19074.hp1
NA19080.hp2
NA19081.hp1
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19090.hp1
NA19091.hp1
NA20129.hp1
NA20300.hp2
 intron_variant MODIFIER c.1867-4657C>G
c.1867-4657C>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 541833
chr17:541851 G
G
 C
C
 2 a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0101g0200
a0001c0001t0102g0220
 2 HG02572.hp2
HG03139.hp1
HG02572.hp2
HG03139.hp1
 intron_variant MODIFIER c.1867-4675C>G
c.1867-4675C>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 541851
chr17:541871 A
A
 G
G
 1 a0004c0008t0133g0232
a0004c0008t0133g0232
 1 NA19011.hp1
NA19011.hp1
 intron_variant MODIFIER c.1867-4695T>C
c.1867-4695T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 541871
chr17:541876 G
G
 A
A
 2 a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0028g0196
a0001c0001t0028g0197
 2 HG02622.hp1
HG02723.hp2
HG02622.hp1
HG02723.hp2
 intron_variant MODIFIER c.1867-4700C>T
c.1867-4700C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 541876
chr17:541876 G
G
 C
C
 2 a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0101g0200
a0001c0001t0102g0220
 2 HG02572.hp2
HG03139.hp1
HG02572.hp2
HG03139.hp1
 intron_variant MODIFIER c.1867-4700C>G
c.1867-4700C>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 541876
chr17:541877 T
T
 G
G
 2 a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0101g0200
a0001c0001t0102g0220
 2 HG02572.hp2
HG03139.hp1
HG02572.hp2
HG03139.hp1
 intron_variant MODIFIER c.1867-4701A>C
c.1867-4701A>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 541877
chr17:541906 C
C
 G
G
 2 a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0101g0200
a0001c0001t0102g0220
 2 HG02572.hp2
HG03139.hp1
HG02572.hp2
HG03139.hp1
 intron_variant MODIFIER c.1867-4730G>C
c.1867-4730G>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 541906
chr17:541946 T
T
 C
C
 2 a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0101g0200
a0001c0001t0102g0220
 2 HG02572.hp2
HG03139.hp1
HG02572.hp2
HG03139.hp1
 intron_variant MODIFIER c.1867-4770A>G
c.1867-4770A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 541946
chr17:541953 C
C
 T
T
 69 a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
others(66): Show 
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0097g0199
a0001c0001t0098g0147
a0001c0001t0105g0201
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0127g0159
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0049g0048
a0001c0002t0050g0049
a0001c0002t0058g0052
a0001c0002t0078g0041
a0001c0002t0086g0221
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0011t0051g0091
a0001c0014t0135g0166
a0001c0016t0052g0099
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0085g0184
a0002c0003t0089g0175
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0104g0208
a0002c0003t0150g0191
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0047g0017
 69 HG00423.hp2
HG01074.hp2
HG01099.hp1
others(66): Show 
HG00423.hp2
HG01074.hp2
HG01099.hp1
HG01109.hp2
HG01167.hp1
HG01168.hp2
HG01884.hp1
HG01891.hp1
HG01928.hp1
HG01981.hp1
HG02040.hp1
HG02056.hp1
HG02074.hp2
HG02083.hp1
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02280.hp1
HG02293.hp1
HG02300.hp1
HG02572.hp1
HG02602.hp1
HG02622.hp1
HG02622.hp2
HG02723.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp2
HG02922.hp2
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03491.hp2
HG03516.hp2
NA18612.hp1
NA18747.hp1
NA18944.hp1
NA18945.hp1
NA18948.hp2
NA18950.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp1
NA18962.hp2
NA18979.hp1
NA18987.hp1
NA18994.hp1
NA18994.hp2
NA19000.hp1
NA19000.hp2
NA19007.hp1
NA19009.hp1
NA19010.hp1
NA19010.hp2
NA19060.hp1
NA19060.hp2
NA19065.hp1
NA19074.hp1
NA19080.hp2
NA19081.hp1
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19090.hp1
NA19091.hp1
NA20129.hp1
NA20300.hp2
 intron_variant MODIFIER c.1867-4777G>A
c.1867-4777G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 541953
chr17:541954 A
A
 G
G
 69 a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
others(66): Show 
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0097g0199
a0001c0001t0098g0147
a0001c0001t0105g0201
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0127g0159
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0049g0048
a0001c0002t0050g0049
a0001c0002t0058g0052
a0001c0002t0078g0041
a0001c0002t0086g0221
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0011t0051g0091
a0001c0014t0135g0166
a0001c0016t0052g0099
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0085g0184
a0002c0003t0089g0175
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0104g0208
a0002c0003t0150g0191
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0047g0017
 69 HG00423.hp2
HG01074.hp2
HG01099.hp1
others(66): Show 
HG00423.hp2
HG01074.hp2
HG01099.hp1
HG01109.hp2
HG01167.hp1
HG01168.hp2
HG01884.hp1
HG01891.hp1
HG01928.hp1
HG01981.hp1
HG02040.hp1
HG02056.hp1
HG02074.hp2
HG02083.hp1
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02280.hp1
HG02293.hp1
HG02300.hp1
HG02572.hp1
HG02602.hp1
HG02622.hp1
HG02622.hp2
HG02723.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp2
HG02922.hp2
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03491.hp2
HG03516.hp2
NA18612.hp1
NA18747.hp1
NA18944.hp1
NA18945.hp1
NA18948.hp2
NA18950.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp1
NA18962.hp2
NA18979.hp1
NA18987.hp1
NA18994.hp1
NA18994.hp2
NA19000.hp1
NA19000.hp2
NA19007.hp1
NA19009.hp1
NA19010.hp1
NA19010.hp2
NA19060.hp1
NA19060.hp2
NA19065.hp1
NA19074.hp1
NA19080.hp2
NA19081.hp1
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19090.hp1
NA19091.hp1
NA20129.hp1
NA20300.hp2
 intron_variant MODIFIER c.1867-4778T>C
c.1867-4778T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 541954
chr17:541968 T
T
 C
C
 2 a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0101g0200
a0001c0001t0102g0220
 2 HG02572.hp2
HG03139.hp1
HG02572.hp2
HG03139.hp1
 intron_variant MODIFIER c.1867-4792A>G
c.1867-4792A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 541968
chr17:542068 C
C
 T
T
 11 a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0033g0205
others(8): Show 
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0097g0199
a0001c0001t0105g0201
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0127g0159
 11 HG01109.hp2
HG01884.hp1
HG01891.hp1
others(8): Show 
HG01109.hp2
HG01884.hp1
HG01891.hp1
HG02622.hp2
HG02818.hp1
HG02886.hp2
HG02895.hp2
HG02922.hp2
HG03139.hp2
HG03225.hp1
NA20129.hp1
 intron_variant MODIFIER c.1867-4892G>A
c.1867-4892G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 542068
chr17:542121 C
C
 T
T
 1 a0001c0001t0128g0132
a0001c0001t0128g0132
 1 HG02056.hp2
HG02056.hp2
 intron_variant MODIFIER c.1867-4945G>A
c.1867-4945G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 542121
chr17:542263 G
G
 A
A
 1 a0001c0007t0012g0108
a0001c0007t0012g0108
 1 HG01496.hp2
HG01496.hp2
 intron_variant MODIFIER c.1867-5087C>T
c.1867-5087C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 542263
chr17:542412 C
C
 T
T
 4 a0002c0003t0008g0180
a0002c0003t0008g0217
a0002c0003t0091g0209
others(1): Show 
a0002c0003t0008g0180
a0002c0003t0008g0217
a0002c0003t0091g0209
a0002c0003t0150g0191
 4 HG01099.hp1
HG01981.hp1
HG02293.hp1
others(1): Show 
HG01099.hp1
HG01981.hp1
HG02293.hp1
HG02300.hp1
 intron_variant MODIFIER c.1867-5236G>A
c.1867-5236G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 542412
chr17:542482 G
G
 A
A
 2 a0001c0001t0011g0013
a0001c0001t0069g0012
a0001c0001t0011g0013
a0001c0001t0069g0012
 2 HG01361.hp2
NA19079.hp2
HG01361.hp2
NA19079.hp2
 intron_variant MODIFIER c.1867-5306C>T
c.1867-5306C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 542482
chr17:542492 G
G
 A
A
 34 a0001c0001t0034g0126
a0001c0001t0101g0200
a0001c0001t0102g0220
others(31): Show 
a0001c0001t0034g0126
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0002t0022g0085
a0001c0002t0055g0084
a0001c0002t0100g0223
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0002c0003t0099g0192
a0002c0003t0145g0187
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0004c0008t0103g0227
 34 HG00099.hp2
HG00280.hp2
HG00438.hp2
others(31): Show 
HG00099.hp2
HG00280.hp2
HG00438.hp2
HG01175.hp1
HG01256.hp2
HG01515.hp2
HG01981.hp2
HG02074.hp1
HG02572.hp2
HG03139.hp1
HG03491.hp1
HG03492.hp1
HG03831.hp2
HG04199.hp1
NA18612.hp2
NA18906.hp2
NA18940.hp1
NA18944.hp2
NA18950.hp2
NA18957.hp1
NA18959.hp1
NA18961.hp2
NA18962.hp1
NA18973.hp2
NA18977.hp1
NA18978.hp1
NA18984.hp1
NA18986.hp2
NA18990.hp1
NA19011.hp2
NA19064.hp1
NA19080.hp1
NA19087.hp2
NA19091.hp2
 intron_variant MODIFIER c.1867-5316C>T
c.1867-5316C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 542492
chr17:542561 T
T
 C
C
 1 a0001c0001t0029g0150
a0001c0001t0029g0150
 1 HG03139.hp2
HG03139.hp2
 intron_variant MODIFIER c.1867-5385A>G
c.1867-5385A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 542561
chr17:542722 T
T
 C
C
 1 a0001c0001t0113g0122
a0001c0001t0113g0122
 1 HG00741.hp2
HG00741.hp2
 intron_variant MODIFIER c.1867-5546A>G
c.1867-5546A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 542722
chr17:542760 C
C
 A
A
 1 a0003c0004t0006g0016
a0003c0004t0006g0016
 1 NA18962.hp1
NA18962.hp1
 intron_variant MODIFIER c.1867-5584G>T
c.1867-5584G>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 542760
chr17:542771 G
G
 A
A
 50 a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
others(47): Show 
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0097g0199
a0001c0001t0098g0147
a0001c0001t0105g0201
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0127g0159
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0048g0089
a0001c0002t0050g0049
a0001c0002t0058g0052
a0001c0002t0086g0221
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0085g0184
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0104g0208
a0002c0003t0150g0191
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
 50 HG00423.hp2
HG01099.hp1
HG01109.hp2
others(47): Show 
HG00423.hp2
HG01099.hp1
HG01109.hp2
HG01167.hp1
HG01884.hp1
HG01891.hp1
HG01928.hp1
HG01981.hp1
HG02040.hp1
HG02056.hp1
HG02083.hp1
HG02135.hp1
HG02145.hp1
HG02280.hp1
HG02293.hp1
HG02300.hp1
HG02622.hp1
HG02622.hp2
HG02723.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp2
HG02922.hp2
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03491.hp2
NA18612.hp1
NA18945.hp1
NA18948.hp2
NA18950.hp1
NA18959.hp2
NA18961.hp1
NA18962.hp2
NA18979.hp1
NA18987.hp1
NA19000.hp1
NA19007.hp1
NA19010.hp1
NA19060.hp1
NA19060.hp2
NA19065.hp1
NA19074.hp1
NA19080.hp2
NA19081.hp1
NA19084.hp2
NA19090.hp1
NA20129.hp1
NA20300.hp2
 intron_variant MODIFIER c.1867-5595C>T
c.1867-5595C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 542771
chr17:542772 A
A
 T
T
 50 a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
others(47): Show 
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0097g0199
a0001c0001t0098g0147
a0001c0001t0105g0201
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0127g0159
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0048g0089
a0001c0002t0050g0049
a0001c0002t0058g0052
a0001c0002t0086g0221
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0085g0184
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0104g0208
a0002c0003t0150g0191
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
 50 HG00423.hp2
HG01099.hp1
HG01109.hp2
others(47): Show 
HG00423.hp2
HG01099.hp1
HG01109.hp2
HG01167.hp1
HG01884.hp1
HG01891.hp1
HG01928.hp1
HG01981.hp1
HG02040.hp1
HG02056.hp1
HG02083.hp1
HG02135.hp1
HG02145.hp1
HG02280.hp1
HG02293.hp1
HG02300.hp1
HG02622.hp1
HG02622.hp2
HG02723.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp2
HG02922.hp2
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03491.hp2
NA18612.hp1
NA18945.hp1
NA18948.hp2
NA18950.hp1
NA18959.hp2
NA18961.hp1
NA18962.hp2
NA18979.hp1
NA18987.hp1
NA19000.hp1
NA19007.hp1
NA19010.hp1
NA19060.hp1
NA19060.hp2
NA19065.hp1
NA19074.hp1
NA19080.hp2
NA19081.hp1
NA19084.hp2
NA19090.hp1
NA20129.hp1
NA20300.hp2
 intron_variant MODIFIER c.1867-5596T>A
c.1867-5596T>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 542772
chr17:542922 A
A
 G
G
 177 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(174): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0032g0114
a0001c0001t0032g0204
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0034g0126
a0001c0001t0034g0162
a0001c0001t0069g0012
a0001c0001t0084g0046
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0097g0199
a0001c0001t0098g0147
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0105g0201
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0108g0148
a0001c0001t0110g0127
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0118g0195
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0122g0160
a0001c0001t0127g0159
a0001c0001t0128g0132
a0001c0001t0134g0154
a0001c0001t0138g0161
a0001c0001t0141g0165
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0022g0085
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0049g0048
a0001c0002t0050g0049
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0066g0070
a0001c0002t0078g0041
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0002t0086g0221
a0001c0002t0100g0223
a0001c0002t0109g0222
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0001c0011t0051g0091
a0001c0014t0135g0166
a0001c0015t0126g0149
a0001c0016t0052g0099
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0018g0231
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0073g0068
a0002c0003t0085g0184
a0002c0003t0089g0175
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0099g0192
a0002c0003t0104g0208
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0145g0187
a0002c0003t0146g0170
a0002c0003t0148g0174
a0002c0003t0150g0191
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0004c0008t0036g0207
a0004c0008t0103g0227
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
a0006c0012t0129g0140
a0007c0013t0132g0163
 177 HG00099.hp1
HG00099.hp2
HG00280.hp2
others(174): Show 
HG00099.hp1
HG00099.hp2
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp2
HG00621.hp1
HG00621.hp2
HG00741.hp2
HG01070.hp2
HG01071.hp1
HG01074.hp2
HG01081.hp2
HG01099.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01346.hp2
HG01361.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02056.hp1
HG02056.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18955.hp1
NA18957.hp1
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18967.hp2
NA18973.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18990.hp1
NA18994.hp1
NA18994.hp2
NA19000.hp1
NA19000.hp2
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19065.hp1
NA19065.hp2
NA19066.hp2
NA19068.hp2
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19087.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
 intron_variant MODIFIER c.1867-5746T>C
c.1867-5746T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 542922
chr17:542935 G
G
 A
A
 1 a0001c0001t0069g0012
a0001c0001t0069g0012
 1 NA19079.hp2
NA19079.hp2
 intron_variant MODIFIER c.1867-5759C>T
c.1867-5759C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 542935
chr17:542964 C
C
 T
T
 35 a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
others(32): Show 
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0094g0129
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0048g0089
a0001c0002t0058g0052
a0001c0002t0086g0221
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0085g0184
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0104g0208
a0002c0003t0150g0191
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
 35 HG00423.hp2
HG01099.hp1
HG01167.hp1
others(32): Show 
HG00423.hp2
HG01099.hp1
HG01167.hp1
HG01928.hp1
HG01981.hp1
HG02040.hp1
HG02056.hp1
HG02083.hp1
HG02135.hp1
HG02145.hp1
HG02293.hp1
HG02300.hp1
HG02622.hp1
HG02723.hp2
HG03491.hp2
NA18612.hp1
NA18945.hp1
NA18948.hp2
NA18950.hp1
NA18959.hp2
NA18961.hp1
NA18962.hp2
NA18979.hp1
NA18987.hp1
NA19000.hp1
NA19007.hp1
NA19010.hp1
NA19060.hp1
NA19060.hp2
NA19065.hp1
NA19074.hp1
NA19080.hp2
NA19081.hp1
NA19084.hp2
NA19090.hp1
 intron_variant MODIFIER c.1867-5788G>A
c.1867-5788G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 542964
chr17:542975 C
C
 CA
CA
 19 a0001c0001t0034g0162
a0001c0001t0141g0165
a0001c0002t0010g0057
others(16): Show 
a0001c0001t0034g0162
a0001c0001t0141g0165
a0001c0002t0010g0057
a0001c0002t0043g0064
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0041g0001
a0002c0003t0136g0216
a0003c0004t0047g0017
a0005c0009t0147g0177
a0006c0012t0129g0140
 19 HG01106.hp2
HG01109.hp1
HG01175.hp1
others(16): Show 
HG01106.hp2
HG01109.hp1
HG01175.hp1
HG02135.hp2
HG02602.hp1
HG03491.hp1
HG03492.hp1
HG03831.hp1
NA18747.hp1
NA18944.hp1
NA18960.hp2
NA18978.hp2
NA18994.hp1
NA18994.hp2
NA19009.hp1
NA19010.hp2
NA19066.hp2
NA19087.hp1
NA19091.hp1
 intron_variant MODIFIER c.1867-5800dupT
c.1867-5800dupT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 542975
chr17:542975 CA
CA
 C
C
 54 a0001c0001t0002g0141
a0001c0001t0015g0130
a0001c0001t0015g0131
others(51): Show 
a0001c0001t0002g0141
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0094g0129
a0001c0001t0097g0199
a0001c0001t0105g0201
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0118g0195
a0001c0001t0127g0159
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0014g0074
a0001c0002t0048g0089
a0001c0002t0049g0048
a0001c0002t0058g0052
a0001c0002t0078g0041
a0001c0002t0086g0221
a0001c0014t0135g0166
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0017g0179
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0037g0115
a0002c0003t0085g0184
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0104g0208
a0002c0003t0148g0174
a0003c0004t0004g0014
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
 54 HG00423.hp2
HG01099.hp1
HG01109.hp2
others(51): Show 
HG00423.hp2
HG01099.hp1
HG01109.hp2
HG01167.hp1
HG01255.hp1
HG01346.hp2
HG01884.hp1
HG01891.hp1
HG01928.hp1
HG02040.hp1
HG02083.hp1
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02293.hp1
HG02300.hp1
HG02572.hp1
HG02622.hp1
HG02622.hp2
HG02723.hp2
HG02818.hp1
HG02886.hp2
HG02895.hp2
HG02922.hp2
HG03139.hp2
HG03225.hp1
HG03491.hp2
HG03516.hp2
NA18612.hp1
NA18945.hp1
NA18948.hp2
NA18950.hp1
NA18957.hp1
NA18957.hp2
NA18959.hp2
NA18961.hp1
NA18962.hp2
NA18979.hp1
NA18979.hp2
NA18986.hp1
NA18987.hp1
NA19000.hp1
NA19007.hp1
NA19010.hp1
NA19060.hp1
NA19060.hp2
NA19065.hp1
NA19074.hp1
NA19074.hp2
NA19080.hp2
NA19081.hp1
NA19084.hp2
NA19090.hp1
NA20129.hp1
 intron_variant MODIFIER c.1867-5800delT
c.1867-5800delT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 542975
chr17:543177 C
C
 A
A
 16 a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0043g0064
others(13): Show 
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0043g0064
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0011t0051g0091
a0001c0016t0052g0099
a0002c0003t0089g0175
a0003c0004t0047g0017
 16 HG01074.hp2
HG01168.hp2
HG02074.hp2
others(13): Show 
HG01074.hp2
HG01168.hp2
HG02074.hp2
HG02135.hp2
HG02602.hp1
NA18747.hp1
NA18944.hp1
NA18960.hp2
NA18994.hp1
NA18994.hp2
NA19000.hp2
NA19009.hp1
NA19010.hp2
NA19084.hp1
NA19087.hp1
NA19091.hp1
 intron_variant MODIFIER c.1867-6001G>T
c.1867-6001G>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 543177
chr17:543178 T
T
 C
C
 14 a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0043g0064
others(11): Show 
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0043g0064
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0002c0003t0089g0175
a0003c0004t0047g0017
 14 HG02074.hp2
HG02135.hp2
HG02602.hp1
others(11): Show 
HG02074.hp2
HG02135.hp2
HG02602.hp1
NA18747.hp1
NA18944.hp1
NA18960.hp2
NA18994.hp1
NA18994.hp2
NA19000.hp2
NA19009.hp1
NA19010.hp2
NA19084.hp1
NA19087.hp1
NA19091.hp1
 intron_variant MODIFIER c.1867-6002A>G
c.1867-6002A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 543178
chr17:543253 T
T
 C
C
 7 a0001c0001t0034g0126
a0001c0001t0034g0162
a0001c0001t0122g0160
others(4): Show 
a0001c0001t0034g0126
a0001c0001t0034g0162
a0001c0001t0122g0160
a0001c0001t0138g0161
a0001c0001t0141g0165
a0001c0006t0041g0001
a0007c0013t0132g0163
 7 HG01106.hp2
HG01109.hp1
HG01175.hp1
others(4): Show 
HG01106.hp2
HG01109.hp1
HG01175.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG04204.hp1
 intron_variant MODIFIER c.1867-6077A>G
c.1867-6077A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 543253
chr17:543314 T
T
 C
C
 34 a0001c0001t0034g0126
a0001c0001t0101g0200
a0001c0001t0102g0220
others(31): Show 
a0001c0001t0034g0126
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0002t0022g0085
a0001c0002t0055g0084
a0001c0002t0100g0223
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0002c0003t0099g0192
a0002c0003t0145g0187
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0004c0008t0103g0227
 34 HG00099.hp2
HG00280.hp2
HG00438.hp2
others(31): Show 
HG00099.hp2
HG00280.hp2
HG00438.hp2
HG01175.hp1
HG01256.hp2
HG01515.hp2
HG01981.hp2
HG02074.hp1
HG02572.hp2
HG03139.hp1
HG03491.hp1
HG03492.hp1
HG03831.hp2
HG04199.hp1
NA18612.hp2
NA18906.hp2
NA18940.hp1
NA18944.hp2
NA18950.hp2
NA18957.hp1
NA18959.hp1
NA18961.hp2
NA18962.hp1
NA18973.hp2
NA18977.hp1
NA18978.hp1
NA18984.hp1
NA18986.hp2
NA18990.hp1
NA19011.hp2
NA19064.hp1
NA19080.hp1
NA19087.hp2
NA19091.hp2
 intron_variant MODIFIER c.1867-6138A>G
c.1867-6138A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 543314
chr17:543333 C
C
 T
T
 16 a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0043g0064
others(13): Show 
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0043g0064
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0011t0051g0091
a0001c0016t0052g0099
a0002c0003t0089g0175
a0003c0004t0047g0017
 16 HG01074.hp2
HG01168.hp2
HG02074.hp2
others(13): Show 
HG01074.hp2
HG01168.hp2
HG02074.hp2
HG02135.hp2
HG02602.hp1
NA18747.hp1
NA18944.hp1
NA18960.hp2
NA18994.hp1
NA18994.hp2
NA19000.hp2
NA19009.hp1
NA19010.hp2
NA19084.hp1
NA19087.hp1
NA19091.hp1
 intron_variant MODIFIER c.1867-6157G>A
c.1867-6157G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 543333
chr17:543349 G
G
 C
C
 1 a0003c0004t0059g0029
a0003c0004t0059g0029
 1 NA19091.hp2
NA19091.hp2
 intron_variant MODIFIER c.1867-6173C>G
c.1867-6173C>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 543349
chr17:543474 T
T
 C
C
 69 a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
others(66): Show 
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0097g0199
a0001c0001t0098g0147
a0001c0001t0105g0201
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0127g0159
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0049g0048
a0001c0002t0050g0049
a0001c0002t0058g0052
a0001c0002t0078g0041
a0001c0002t0086g0221
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0011t0051g0091
a0001c0014t0135g0166
a0001c0016t0052g0099
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0085g0184
a0002c0003t0089g0175
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0104g0208
a0002c0003t0150g0191
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0047g0017
 69 HG00423.hp2
HG01074.hp2
HG01099.hp1
others(66): Show 
HG00423.hp2
HG01074.hp2
HG01099.hp1
HG01109.hp2
HG01167.hp1
HG01168.hp2
HG01884.hp1
HG01891.hp1
HG01928.hp1
HG01981.hp1
HG02040.hp1
HG02056.hp1
HG02074.hp2
HG02083.hp1
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02280.hp1
HG02293.hp1
HG02300.hp1
HG02572.hp1
HG02602.hp1
HG02622.hp1
HG02622.hp2
HG02723.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp2
HG02922.hp2
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03491.hp2
HG03516.hp2
NA18612.hp1
NA18747.hp1
NA18944.hp1
NA18945.hp1
NA18948.hp2
NA18950.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp1
NA18962.hp2
NA18979.hp1
NA18987.hp1
NA18994.hp1
NA18994.hp2
NA19000.hp1
NA19000.hp2
NA19007.hp1
NA19009.hp1
NA19010.hp1
NA19010.hp2
NA19060.hp1
NA19060.hp2
NA19065.hp1
NA19074.hp1
NA19080.hp2
NA19081.hp1
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19090.hp1
NA19091.hp1
NA20129.hp1
NA20300.hp2
 intron_variant MODIFIER c.1867-6298A>G
c.1867-6298A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 543474
chr17:543522 T
T
 A
A
 3 a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0106g0117
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0106g0117
 3 HG01884.hp2
HG02109.hp2
HG02280.hp2
HG01884.hp2
HG02109.hp2
HG02280.hp2
 intron_variant MODIFIER c.1867-6346A>T
c.1867-6346A>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 543522
chr17:543640 T
T
 C
C
 6 a0001c0002t0017g0225
a0001c0002t0026g0059
a0001c0002t0026g0060
others(3): Show 
a0001c0002t0017g0225
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0038g0224
a0001c0002t0143g0226
a0001c0002t0149g0202
 6 HG00140.hp1
HG01256.hp1
HG01258.hp1
others(3): Show 
HG00140.hp1
HG01256.hp1
HG01258.hp1
HG01346.hp1
HG01516.hp1
HG03942.hp2
 intron_variant MODIFIER c.1867-6464A>G
c.1867-6464A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 543640
chr17:543652 C
C
 A
A
 2 a0001c0002t0078g0041
a0001c0014t0135g0166
a0001c0002t0078g0041
a0001c0014t0135g0166
 2 HG02572.hp1
HG03516.hp2
HG02572.hp1
HG03516.hp2
 intron_variant MODIFIER c.1867-6476G>T
c.1867-6476G>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 543652
chr17:543679 A
A
 G
G
 2 a0001c0002t0013g0083
a0001c0002t0079g0086
a0001c0002t0013g0083
a0001c0002t0079g0086
 2 HG01106.hp1
NA20805.hp2
HG01106.hp1
NA20805.hp2
 intron_variant MODIFIER c.1867-6503T>C
c.1867-6503T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 543679
chr17:543756 T
T
 C
C
 2 a0001c0002t0078g0041
a0001c0014t0135g0166
a0001c0002t0078g0041
a0001c0014t0135g0166
 2 HG02572.hp1
HG03516.hp2
HG02572.hp1
HG03516.hp2
 intron_variant MODIFIER c.1867-6580A>G
c.1867-6580A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 543756
chr17:543783 A
A
 AGAAG
AGAAG
 77 a0001c0001t0002g0128
a0001c0001t0002g0134
a0001c0001t0002g0137
others(74): Show 
a0001c0001t0002g0128
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0213
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0032g0114
a0001c0001t0034g0126
a0001c0001t0069g0012
a0001c0001t0107g0212
a0001c0001t0110g0127
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0116g0138
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0122g0160
a0001c0001t0123g0123
a0001c0001t0128g0132
a0001c0001t0138g0161
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0017g0225
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0038g0224
a0001c0002t0066g0070
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0002t0109g0222
a0001c0002t0125g0116
a0001c0002t0149g0202
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0001c0015t0126g0149
a0002c0003t0017g0179
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0018g0231
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0073g0068
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0146g0170
a0002c0003t0148g0174
a0003c0004t0025g0038
a0004c0008t0035g0203
a0004c0008t0036g0207
a0004c0008t0124g0229
a0004c0008t0142g0228
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
 77 HG00099.hp1
HG00323.hp2
HG00423.hp1
others(74): Show 
HG00099.hp1
HG00323.hp2
HG00423.hp1
HG00621.hp1
HG00621.hp2
HG00741.hp2
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01099.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp2
HG01884.hp2
HG01928.hp2
HG01978.hp2
HG01981.hp2
HG02056.hp2
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02602.hp2
HG02723.hp1
HG02738.hp2
HG02895.hp1
HG03491.hp1
HG03492.hp1
HG03688.hp2
HG03831.hp1
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04184.hp2
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp1
NA18955.hp1
NA18957.hp2
NA18967.hp2
NA18977.hp2
NA18979.hp2
NA18983.hp1
NA18986.hp1
NA18987.hp2
NA18990.hp2
NA19007.hp2
NA19009.hp2
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19081.hp2
NA19090.hp2
 intron_variant MODIFIER c.1867-6611_1867-660
others(8): Show 
c.1867-6611_1867-6608dupCTTC
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 543783
chr17:543783 A
A
 AGAAGGAA
others(1): Show 
AGAAGGAAG
 10 a0001c0001t0002g0121
a0001c0001t0031g0153
a0001c0001t0031g0155
others(7): Show 
a0001c0001t0002g0121
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0002t0035g0219
a0001c0002t0086g0221
a0001c0006t0053g0102
a0002c0003t0009g0185
a0002c0003t0104g0208
a0002c0003t0150g0191
a0007c0013t0132g0163
 10 HG00099.hp2
HG00438.hp1
HG01891.hp2
others(7): Show 
HG00099.hp2
HG00438.hp1
HG01891.hp2
HG01928.hp1
HG01981.hp1
HG02145.hp1
HG04204.hp1
NA18983.hp2
NA18987.hp1
NA20129.hp2
 intron_variant MODIFIER c.1867-6615_1867-660
others(12): Show 
c.1867-6615_1867-6608dupCTTCCTTC
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 543783
chr17:543783 A
A
 AGAAGGAA
others(5): Show 
AGAAGGAAGGAAG
 32 a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
others(29): Show 
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0094g0129
a0001c0001t0134g0154
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0048g0089
a0001c0002t0058g0052
a0001c0005t0045g0009
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0033
 32 HG00423.hp2
HG01099.hp1
HG02040.hp1
others(29): Show 
HG00423.hp2
HG01099.hp1
HG02040.hp1
HG02056.hp1
HG02083.hp1
HG02135.hp1
HG02135.hp2
HG02293.hp1
HG02300.hp1
NA18612.hp1
NA18945.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18959.hp2
NA18961.hp1
NA18962.hp2
NA18977.hp1
NA18979.hp1
NA18986.hp2
NA19000.hp1
NA19007.hp1
NA19010.hp1
NA19060.hp1
NA19060.hp2
NA19065.hp1
NA19074.hp1
NA19080.hp2
NA19081.hp1
NA19084.hp2
NA19090.hp1
NA20300.hp1
 intron_variant MODIFIER c.1867-6619_1867-660
others(16): Show 
c.1867-6619_1867-6608dupCTTCCTTCCTTC
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 543783
chr17:543783 A
A
 AGAAGGAA
others(9): Show 
AGAAGGAAGGAAGGAAG
 16 a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0088g0152
others(13): Show 
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0088g0152
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0102g0220
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0043g0064
a0001c0002t0049g0048
a0001c0002t0050g0049
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0044g0096
a0001c0005t0046g0011
a0003c0004t0047g0017
 16 HG01884.hp1
HG02145.hp2
HG02280.hp1
others(13): Show 
HG01884.hp1
HG02145.hp2
HG02280.hp1
HG02572.hp2
HG02602.hp1
HG02886.hp2
HG03225.hp1
HG03225.hp2
NA18944.hp1
NA18960.hp2
NA18994.hp1
NA18994.hp2
NA19009.hp1
NA19010.hp2
NA19084.hp1
NA20300.hp2
 intron_variant MODIFIER c.1867-6623_1867-660
others(20): Show 
c.1867-6623_1867-6608dupCTTCCTTCCTTCCTTC
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 543783
chr17:543783 A
A
 AGAAGGAA
others(13): Show 
AGAAGGAAGGAAGGAAGGAAG
 11 a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0087g0198
others(8): Show 
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0087g0198
a0001c0001t0105g0201
a0001c0001t0112g0157
a0001c0001t0127g0159
a0001c0005t0010g0008
a0001c0005t0020g0005
a0001c0005t0020g0010
a0002c0003t0085g0184
a0002c0003t0089g0175
 11 HG01109.hp2
HG01891.hp1
HG02074.hp2
others(8): Show 
HG01109.hp2
HG01891.hp1
HG02074.hp2
HG02622.hp2
HG02818.hp1
HG03139.hp2
HG03491.hp2
NA18747.hp1
NA19087.hp1
NA19091.hp1
NA20129.hp1
 intron_variant MODIFIER c.1867-6627_1867-660
others(24): Show 
c.1867-6627_1867-6608dupCTTCCTTCCTTCCTTCCTTC
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 543783
chr17:543783 A
A
 AGAAGGAA
others(17): Show 
AGAAGGAAGGAAGGAAGGAAGGAAG
 6 a0001c0001t0097g0199
a0001c0001t0098g0147
a0001c0001t0111g0164
others(3): Show 
a0001c0001t0097g0199
a0001c0001t0098g0147
a0001c0001t0111g0164
a0001c0005t0042g0044
a0001c0016t0052g0099
a0002c0003t0093g0173
 6 HG01167.hp1
HG01168.hp2
HG02818.hp2
others(3): Show 
HG01167.hp1
HG01168.hp2
HG02818.hp2
HG02895.hp2
HG02922.hp2
NA19000.hp2
 intron_variant MODIFIER c.1867-6631_1867-660
others(28): Show 
c.1867-6631_1867-6608dupCTTCCTTCCTTCCTTCCTTCCTTC
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 543783
chr17:543783 A
A
 AGAAGGAA
others(25): Show 
AGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG
 1 a0001c0011t0051g0091
a0001c0011t0051g0091
 1 HG01074.hp2
HG01074.hp2
 intron_variant MODIFIER c.1867-6639_1867-660
others(36): Show 
c.1867-6639_1867-6608dupCTTCCTTCCTTCCTTCCTTCCTTCCT
TCCTTC
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 543783
chr17:543783 AGAAG
AGAAG
 A
A
 2 a0001c0002t0079g0086
a0001c0006t0057g0103
a0001c0002t0079g0086
a0001c0006t0057g0103
 2 HG00280.hp2
HG01106.hp1
HG00280.hp2
HG01106.hp1
 intron_variant MODIFIER c.1867-6611_1867-660
others(8): Show 
c.1867-6611_1867-6608delCTTC
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 543783
chr17:543805 AAGGAAGG
others(5): Show 
AAGGAAGGAAGGG
 A
A
 2 a0001c0002t0078g0041
a0001c0014t0135g0166
a0001c0002t0078g0041
a0001c0014t0135g0166
 2 HG02572.hp1
HG03516.hp2
HG02572.hp1
HG03516.hp2
 intron_variant MODIFIER c.1867-6641_1867-663
others(16): Show 
c.1867-6641_1867-6630delCCCTTCCTTCCT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 543805
chr17:543813 A
A
 AAGGAAGG
others(29): Show 
AAGGAAGGAAGGAAGGAAGGAAGGAAGGGAGGGAGGG
 3 a0001c0002t0022g0085
a0003c0004t0056g0020
a0003c0004t0060g0039
a0001c0002t0022g0085
a0003c0004t0056g0020
a0003c0004t0060g0039
 3 HG03831.hp2
NA18940.hp1
NA19080.hp1
HG03831.hp2
NA18940.hp1
NA19080.hp1
 intron_variant MODIFIER c.1867-6638_1867-663
others(40): Show 
c.1867-6638_1867-6637insCCCTCCCTCCCTTCCTTCCTTCCTTC
CTTCCTTCCT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 543813
chr17:543813 A
A
 AAGGAAGG
others(25): Show 
AAGGAAGGAAGGAAGGAAGGAAGGGAGGGAGGG
 6 a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
others(3): Show 
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0059g0029
a0003c0004t0061g0031
a0003c0004t0063g0034
 6 NA18612.hp2
NA18978.hp1
NA18990.hp1
others(3): Show 
NA18612.hp2
NA18978.hp1
NA18990.hp1
NA19011.hp2
NA19064.hp1
NA19091.hp2
 intron_variant MODIFIER c.1867-6638_1867-663
others(36): Show 
c.1867-6638_1867-6637insCCCTCCCTCCCTTCCTTCCTTCCTTC
CTTCCT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 543813
chr17:543813 A
A
 AAGGAAGG
others(29): Show 
AAGGAAGGAAGGAAGGAAGGAAGGGAGGGAGGGAGGG
 3 a0001c0002t0100g0223
a0003c0004t0022g0004
a0003c0004t0054g0032
a0001c0002t0100g0223
a0003c0004t0022g0004
a0003c0004t0054g0032
 3 NA18944.hp2
NA18961.hp2
NA19087.hp2
NA18944.hp2
NA18961.hp2
NA19087.hp2
 intron_variant MODIFIER c.1867-6638_1867-663
others(40): Show 
c.1867-6638_1867-6637insCCCTCCCTCCCTCCCTTCCTTCCTTC
CTTCCTTCCT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 543813
chr17:543813 A
A
 AAGGAAGG
others(13): Show 
AAGGAAGGAAGGAAGGAAGGG
 2 a0001c0001t0101g0200
a0002c0003t0099g0192
a0001c0001t0101g0200
a0002c0003t0099g0192
 2 HG00438.hp2
HG03139.hp1
HG00438.hp2
HG03139.hp1
 intron_variant MODIFIER c.1867-6638_1867-663
others(24): Show 
c.1867-6638_1867-6637insCCCTTCCTTCCTTCCTTCCT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 543813
chr17:543813 A
A
 AAGGAAGG
others(17): Show 
AAGGAAGGAAGGAAGGAAGGGAGGG
 2 a0001c0001t0028g0197
a0001c0002t0055g0084
a0001c0001t0028g0197
a0001c0002t0055g0084
 2 HG02622.hp1
NA18906.hp2
HG02622.hp1
NA18906.hp2
 intron_variant MODIFIER c.1867-6638_1867-663
others(28): Show 
c.1867-6638_1867-6637insCCCTCCCTTCCTTCCTTCCTTCCT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 543813
chr17:543813 A
A
 AAGGAAGG
others(21): Show 
AAGGAAGGAAGGAAGGAAGGGAGGGAGGG
 2 a0003c0004t0004g0014
a0003c0004t0006g0016
a0003c0004t0004g0014
a0003c0004t0006g0016
 2 NA18957.hp1
NA18962.hp1
NA18957.hp1
NA18962.hp1
 intron_variant MODIFIER c.1867-6638_1867-663
others(32): Show 
c.1867-6638_1867-6637insCCCTCCCTCCCTTCCTTCCTTCCTTC
CT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 543813
chr17:543813 A
A
 AAGGAAGG
others(25): Show 
AAGGAAGGAAGGAAGGAAGGGAGGGAGGGAGGG
 1 a0003c0004t0004g0040
a0003c0004t0004g0040
 1 NA18984.hp1
NA18984.hp1
 intron_variant MODIFIER c.1867-6638_1867-663
others(36): Show 
c.1867-6638_1867-6637insCCCTCCCTCCCTCCCTTCCTTCCTTC
CTTCCT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 543813
chr17:543813 A
A
 AAGGAAGG
others(33): Show 
AAGGAAGGAAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGG
 1 a0003c0004t0004g0019
a0003c0004t0004g0019
 1 HG02074.hp1
HG02074.hp1
 intron_variant MODIFIER c.1867-6638_1867-663
others(44): Show 
c.1867-6638_1867-6637insCCCTCCCTCCCTCCCTCCCTCCCTTC
CTTCCTTCCTTCCT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 543813
chr17:543813 A
A
 AAGGAAGG
others(9): Show 
AAGGAAGGAAGGAAGGG
 2 a0001c0001t0118g0195
a0002c0003t0145g0187
a0001c0001t0118g0195
a0002c0003t0145g0187
 2 HG01346.hp2
HG04199.hp1
HG01346.hp2
HG04199.hp1
 intron_variant MODIFIER c.1867-6638_1867-663
others(20): Show 
c.1867-6638_1867-6637insCCCTTCCTTCCTTCCT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 543813
chr17:543813 A
A
 AAGGAAGG
others(33): Show 
AAGGAAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGG
 1 a0004c0008t0103g0227
a0004c0008t0103g0227
 1 NA18973.hp2
NA18973.hp2
 intron_variant MODIFIER c.1867-6638_1867-663
others(44): Show 
c.1867-6638_1867-6637insCCCTCCCTCCCTCCCTCCCTCCCTCC
CTTCCTTCCTTCCT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 543813
chr17:543813 A
A
 AAGGAAGG
others(1): Show 
AAGGAAGGG
 2 a0001c0001t0011g0013
a0001c0001t0117g0230
a0001c0001t0011g0013
a0001c0001t0117g0230
 2 HG01081.hp2
HG01361.hp2
HG01081.hp2
HG01361.hp2
 intron_variant MODIFIER c.1867-6638_1867-663
others(12): Show 
c.1867-6638_1867-6637insCCCTTCCT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 543813
chr17:543813 A
A
 AAGGAAGG
others(5): Show 
AAGGAAGGGAGGG
 2 a0001c0001t0028g0196
a0001c0001t0108g0148
a0001c0001t0028g0196
a0001c0001t0108g0148
 2 HG01192.hp1
HG02723.hp2
HG01192.hp1
HG02723.hp2
 intron_variant MODIFIER c.1867-6638_1867-663
others(16): Show 
c.1867-6638_1867-6637insCCCTCCCTTCCT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 543813
chr17:543813 A
A
 AAGGG
AAGGG
 2 a0001c0001t0002g0133
a0001c0001t0002g0210
a0001c0001t0002g0133
a0001c0001t0002g0210
 2 HG02040.hp2
NA18940.hp2
HG02040.hp2
NA18940.hp2
 intron_variant MODIFIER c.1867-6641_1867-663
others(8): Show 
c.1867-6641_1867-6638dupCCCT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 543813
chr17:543813 A
A
 G
G
 1 a0001c0001t0121g0143
a0001c0001t0121g0143
 1 HG04199.hp2
HG04199.hp2
 intron_variant MODIFIER c.1867-6637T>C
c.1867-6637T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 543813
chr17:543813 AAGGG
AAGGG
 A
A
 3 a0001c0002t0001g0056
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0001g0056
a0001c0002t0014g0055
a0001c0002t0014g0074
 3 HG01167.hp2
HG01255.hp1
homoSapiens_chm13v2.hp1
HG01167.hp2
HG01255.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1867-6641_1867-663
others(8): Show 
c.1867-6641_1867-6638delCCCT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 543813
chr17:543813 AAGGGAGG
others(5): Show 
AAGGGAGGGAGGG
 A
A
 1 a0001c0002t0143g0226
a0001c0002t0143g0226
 1 HG00140.hp1
HG00140.hp1
 intron_variant MODIFIER c.1867-6649_1867-663
others(16): Show 
c.1867-6649_1867-6638delCCCTCCCTCCCT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 543813
chr17:543817 G
G
 A
A
 71 a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
others(68): Show 
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0029g0150
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0032g0114
a0001c0001t0032g0204
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0034g0162
a0001c0001t0084g0046
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0097g0199
a0001c0001t0098g0147
a0001c0001t0105g0201
a0001c0001t0112g0157
a0001c0001t0122g0160
a0001c0001t0127g0159
a0001c0001t0134g0154
a0001c0001t0138g0161
a0001c0001t0141g0165
a0001c0002t0005g0061
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0035g0219
a0001c0002t0048g0089
a0001c0002t0049g0048
a0001c0002t0050g0049
a0001c0002t0058g0052
a0001c0002t0086g0221
a0001c0015t0126g0149
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0018g0231
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0085g0184
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0104g0208
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0146g0170
a0002c0003t0148g0174
a0002c0003t0150g0191
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0024
a0004c0008t0036g0207
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
a0006c0012t0129g0140
 71 HG00423.hp1
HG00423.hp2
HG00438.hp1
others(68): Show 
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00621.hp1
HG01099.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01257.hp1
HG01258.hp2
HG01884.hp1
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01981.hp1
HG02040.hp1
HG02056.hp1
HG02083.hp1
HG02129.hp1
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02280.hp1
HG02293.hp1
HG02300.hp1
HG02723.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02922.hp2
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03491.hp2
HG03516.hp1
HG03831.hp1
HG03942.hp1
NA18945.hp1
NA18946.hp1
NA18950.hp1
NA18955.hp1
NA18959.hp1
NA18959.hp2
NA18961.hp1
NA18962.hp2
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA19000.hp1
NA19007.hp1
NA19010.hp1
NA19060.hp1
NA19060.hp2
NA19066.hp2
NA19074.hp1
NA19080.hp2
NA19081.hp1
NA19084.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
 intron_variant MODIFIER c.1867-6641C>T
c.1867-6641C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 543817
chr17:543821 G
G
 A
A
 10 a0001c0001t0032g0204
a0001c0001t0033g0205
a0001c0001t0033g0206
others(7): Show 
a0001c0001t0032g0204
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0084g0046
a0001c0001t0087g0198
a0001c0001t0105g0201
a0001c0001t0127g0159
a0001c0002t0049g0048
a0001c0002t0050g0049
a0003c0004t0006g0024
 10 HG01109.hp2
HG01891.hp1
HG02145.hp2
others(7): Show 
HG01109.hp2
HG01891.hp1
HG02145.hp2
HG02280.hp1
HG02818.hp1
HG02886.hp2
HG02922.hp1
HG03225.hp1
HG03516.hp1
NA18959.hp1
 intron_variant MODIFIER c.1867-6645C>T
c.1867-6645C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 543821
chr17:543825 G
G
 A
A
 1 a0003c0004t0006g0024
a0003c0004t0006g0024
 1 NA18959.hp1
NA18959.hp1
 intron_variant MODIFIER c.1867-6649C>T
c.1867-6649C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 543825
chr17:543829 G
G
 A
A
 1 a0001c0002t0143g0226
a0001c0002t0143g0226
 1 HG00140.hp1
HG00140.hp1
 intron_variant MODIFIER c.1867-6653C>T
c.1867-6653C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 543829
chr17:543839 GGGAGGGA
others(5): Show 
GGGAGGGAGGGAA
 G
G
 1 a0001c0001t0084g0046
a0001c0001t0084g0046
 1 HG03516.hp1
HG03516.hp1
 intron_variant MODIFIER c.1867-6675_1867-666
others(16): Show 
c.1867-6675_1867-6664delTTCCCTCCCTCC
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 543839
chr17:543851 A
A
 G
G
 2 a0001c0002t0078g0041
a0001c0014t0135g0166
a0001c0002t0078g0041
a0001c0014t0135g0166
 2 HG02572.hp1
HG03516.hp2
HG02572.hp1
HG03516.hp2
 intron_variant MODIFIER c.1867-6675T>C
c.1867-6675T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 543851
chr17:543995 AAGGG
AAGGG
 A
A
 105 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(102): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0032g0114
a0001c0001t0032g0204
a0001c0001t0034g0126
a0001c0001t0034g0162
a0001c0001t0069g0012
a0001c0001t0084g0046
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0108g0148
a0001c0001t0110g0127
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0118g0195
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0122g0160
a0001c0001t0128g0132
a0001c0001t0134g0154
a0001c0001t0138g0161
a0001c0001t0141g0165
a0001c0002t0022g0085
a0001c0002t0049g0048
a0001c0002t0055g0084
a0001c0002t0066g0070
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0002t0100g0223
a0001c0002t0109g0222
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0001c0015t0126g0149
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0018g0231
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0073g0068
a0002c0003t0099g0192
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0145g0187
a0002c0003t0146g0170
a0002c0003t0148g0174
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0004c0008t0036g0207
a0004c0008t0103g0227
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
a0006c0012t0129g0140
a0007c0013t0132g0163
 105 HG00099.hp1
HG00099.hp2
HG00280.hp2
others(102): Show 
HG00099.hp1
HG00099.hp2
HG00280.hp2
HG00423.hp1
HG00438.hp2
HG00621.hp1
HG00621.hp2
HG00741.hp2
HG01081.hp2
HG01106.hp2
HG01109.hp1
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01346.hp2
HG01361.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp2
HG01884.hp2
HG01891.hp2
HG01928.hp2
HG01978.hp2
HG01981.hp2
HG02040.hp2
HG02056.hp2
HG02074.hp1
HG02083.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02145.hp2
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02572.hp2
HG02602.hp2
HG02723.hp1
HG02895.hp1
HG02922.hp1
HG03139.hp1
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
NA18612.hp2
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18944.hp2
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18950.hp2
NA18955.hp1
NA18957.hp1
NA18959.hp1
NA18961.hp2
NA18962.hp1
NA18967.hp2
NA18973.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18986.hp1
NA18986.hp2
NA18987.hp2
NA18990.hp1
NA19009.hp2
NA19011.hp2
NA19064.hp1
NA19065.hp2
NA19066.hp2
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19087.hp2
NA19090.hp2
NA19091.hp2
NA20129.hp2
NA20300.hp1
 intron_variant MODIFIER c.1867-6823_1867-682
others(8): Show 
c.1867-6823_1867-6820delCCCT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 543995
chr17:544011 GAGTGAGG
others(33): Show 
GAGTGAGGAAGGCAGGGAGGGAGGGAGGGAGGAAGGGAGGA
 G
G
 50 a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
others(47): Show 
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0097g0199
a0001c0001t0098g0147
a0001c0001t0105g0201
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0127g0159
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0048g0089
a0001c0002t0050g0049
a0001c0002t0058g0052
a0001c0002t0086g0221
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0085g0184
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0104g0208
a0002c0003t0150g0191
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
 50 HG00423.hp2
HG01099.hp1
HG01109.hp2
others(47): Show 
HG00423.hp2
HG01099.hp1
HG01109.hp2
HG01167.hp1
HG01884.hp1
HG01891.hp1
HG01928.hp1
HG01981.hp1
HG02040.hp1
HG02056.hp1
HG02083.hp1
HG02135.hp1
HG02145.hp1
HG02280.hp1
HG02293.hp1
HG02300.hp1
HG02622.hp1
HG02622.hp2
HG02723.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp2
HG02922.hp2
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03491.hp2
NA18612.hp1
NA18945.hp1
NA18948.hp2
NA18950.hp1
NA18959.hp2
NA18961.hp1
NA18962.hp2
NA18979.hp1
NA18987.hp1
NA19000.hp1
NA19007.hp1
NA19010.hp1
NA19060.hp1
NA19060.hp2
NA19065.hp1
NA19074.hp1
NA19080.hp2
NA19081.hp1
NA19084.hp2
NA19090.hp1
NA20129.hp1
NA20300.hp2
 intron_variant MODIFIER c.1867-6875_1867-683
others(44): Show 
c.1867-6875_1867-6836delTCCTCCCTTCCTCCCTCCCTCCCTCC
CTGCCTTCCTCACT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 544011
chr17:544014 T
T
 G
G
 18 a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0043g0064
others(15): Show 
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0043g0064
a0001c0002t0078g0041
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0011t0051g0091
a0001c0014t0135g0166
a0001c0016t0052g0099
a0002c0003t0089g0175
a0003c0004t0047g0017
 18 HG01074.hp2
HG01168.hp2
HG02074.hp2
others(15): Show 
HG01074.hp2
HG01168.hp2
HG02074.hp2
HG02135.hp2
HG02572.hp1
HG02602.hp1
HG03516.hp2
NA18747.hp1
NA18944.hp1
NA18960.hp2
NA18994.hp1
NA18994.hp2
NA19000.hp2
NA19009.hp1
NA19010.hp2
NA19084.hp1
NA19087.hp1
NA19091.hp1
 intron_variant MODIFIER c.1867-6838A>C
c.1867-6838A>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 544014
chr17:544019 A
A
 G
G
 18 a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0043g0064
others(15): Show 
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0043g0064
a0001c0002t0078g0041
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0011t0051g0091
a0001c0014t0135g0166
a0001c0016t0052g0099
a0002c0003t0089g0175
a0003c0004t0047g0017
 18 HG01074.hp2
HG01168.hp2
HG02074.hp2
others(15): Show 
HG01074.hp2
HG01168.hp2
HG02074.hp2
HG02135.hp2
HG02572.hp1
HG02602.hp1
HG03516.hp2
NA18747.hp1
NA18944.hp1
NA18960.hp2
NA18994.hp1
NA18994.hp2
NA19000.hp2
NA19009.hp1
NA19010.hp2
NA19084.hp1
NA19087.hp1
NA19091.hp1
 intron_variant MODIFIER c.1867-6843T>C
c.1867-6843T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 544019
chr17:544022 G
G
 T
T
 2 a0001c0002t0078g0041
a0001c0014t0135g0166
a0001c0002t0078g0041
a0001c0014t0135g0166
 2 HG02572.hp1
HG03516.hp2
HG02572.hp1
HG03516.hp2
 intron_variant MODIFIER c.1867-6846C>A
c.1867-6846C>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 544022
chr17:544023 C
C
 G
G
 18 a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0043g0064
others(15): Show 
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0043g0064
a0001c0002t0078g0041
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0011t0051g0091
a0001c0014t0135g0166
a0001c0016t0052g0099
a0002c0003t0089g0175
a0003c0004t0047g0017
 18 HG01074.hp2
HG01168.hp2
HG02074.hp2
others(15): Show 
HG01074.hp2
HG01168.hp2
HG02074.hp2
HG02135.hp2
HG02572.hp1
HG02602.hp1
HG03516.hp2
NA18747.hp1
NA18944.hp1
NA18960.hp2
NA18994.hp1
NA18994.hp2
NA19000.hp2
NA19009.hp1
NA19010.hp2
NA19084.hp1
NA19087.hp1
NA19091.hp1
 intron_variant MODIFIER c.1867-6847G>C
c.1867-6847G>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 544023
chr17:544029 G
G
 A
A
 2 a0001c0002t0078g0041
a0001c0014t0135g0166
a0001c0002t0078g0041
a0001c0014t0135g0166
 2 HG02572.hp1
HG03516.hp2
HG02572.hp1
HG03516.hp2
 intron_variant MODIFIER c.1867-6853C>T
c.1867-6853C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 544029
chr17:544031 G
G
 A
A
 2 a0001c0002t0078g0041
a0001c0014t0135g0166
a0001c0002t0078g0041
a0001c0014t0135g0166
 2 HG02572.hp1
HG03516.hp2
HG02572.hp1
HG03516.hp2
 intron_variant MODIFIER c.1867-6855C>T
c.1867-6855C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 544031
chr17:544031 G
G
 GAAGA
GAAGA
 2 a0001c0011t0051g0091
a0001c0016t0052g0099
a0001c0011t0051g0091
a0001c0016t0052g0099
 2 HG01074.hp2
HG01168.hp2
HG01074.hp2
HG01168.hp2
 intron_variant MODIFIER c.1867-6856_1867-685
others(8): Show 
c.1867-6856_1867-6855insTCTT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 544031
chr17:544035 G
G
 A
A
 4 a0001c0002t0078g0041
a0001c0011t0051g0091
a0001c0014t0135g0166
others(1): Show 
a0001c0002t0078g0041
a0001c0011t0051g0091
a0001c0014t0135g0166
a0001c0016t0052g0099
 4 HG01074.hp2
HG01168.hp2
HG02572.hp1
others(1): Show 
HG01074.hp2
HG01168.hp2
HG02572.hp1
HG03516.hp2
 intron_variant MODIFIER c.1867-6859C>T
c.1867-6859C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 544035
chr17:544035 G
G
 GAAGAAGG
others(1): Show 
GAAGAAGGA
 13 a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0043g0064
others(10): Show 
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0043g0064
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0003c0004t0047g0017
 13 HG02135.hp2
HG02602.hp1
NA18747.hp1
others(10): Show 
HG02135.hp2
HG02602.hp1
NA18747.hp1
NA18944.hp1
NA18960.hp2
NA18994.hp1
NA18994.hp2
NA19000.hp2
NA19009.hp1
NA19010.hp2
NA19084.hp1
NA19087.hp1
NA19091.hp1
 intron_variant MODIFIER c.1867-6860_1867-685
others(12): Show 
c.1867-6860_1867-6859insTCCTTCTT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 544035
chr17:544035 G
G
 GAGGGAAG
others(5): Show 
GAGGGAAGAAGGA
 1 a0002c0003t0089g0175
a0002c0003t0089g0175
 1 HG02074.hp2
HG02074.hp2
 intron_variant MODIFIER c.1867-6860_1867-685
others(16): Show 
c.1867-6860_1867-6859insTCCTTCTTCCCT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 544035
chr17:544043 A
A
 G
G
 18 a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0043g0064
others(15): Show 
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0043g0064
a0001c0002t0078g0041
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0011t0051g0091
a0001c0014t0135g0166
a0001c0016t0052g0099
a0002c0003t0089g0175
a0003c0004t0047g0017
 18 HG01074.hp2
HG01168.hp2
HG02074.hp2
others(15): Show 
HG01074.hp2
HG01168.hp2
HG02074.hp2
HG02135.hp2
HG02572.hp1
HG02602.hp1
HG03516.hp2
NA18747.hp1
NA18944.hp1
NA18960.hp2
NA18994.hp1
NA18994.hp2
NA19000.hp2
NA19009.hp1
NA19010.hp2
NA19084.hp1
NA19087.hp1
NA19091.hp1
 intron_variant MODIFIER c.1867-6867T>C
c.1867-6867T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 544043
chr17:544051 A
A
 G
G
 2 a0001c0002t0078g0041
a0001c0014t0135g0166
a0001c0002t0078g0041
a0001c0014t0135g0166
 2 HG02572.hp1
HG03516.hp2
HG02572.hp1
HG03516.hp2
 intron_variant MODIFIER c.1867-6875T>C
c.1867-6875T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 544051
chr17:544055 A
A
 G
G
 16 a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0043g0064
others(13): Show 
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0043g0064
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0011t0051g0091
a0001c0016t0052g0099
a0002c0003t0089g0175
a0003c0004t0047g0017
 16 HG01074.hp2
HG01168.hp2
HG02074.hp2
others(13): Show 
HG01074.hp2
HG01168.hp2
HG02074.hp2
HG02135.hp2
HG02602.hp1
NA18747.hp1
NA18944.hp1
NA18960.hp2
NA18994.hp1
NA18994.hp2
NA19000.hp2
NA19009.hp1
NA19010.hp2
NA19084.hp1
NA19087.hp1
NA19091.hp1
 intron_variant MODIFIER c.1867-6879T>C
c.1867-6879T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 544055
chr17:544086 T
T
 G
G
 3 a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0134g0154
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0134g0154
 3 HG01891.hp2
NA20129.hp2
NA20300.hp1
HG01891.hp2
NA20129.hp2
NA20300.hp1
 intron_variant MODIFIER c.1867-6910A>C
c.1867-6910A>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 544086
chr17:544352 C
C
 A
A
 68 a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
others(65): Show 
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0097g0199
a0001c0001t0098g0147
a0001c0001t0105g0201
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0127g0159
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0050g0049
a0001c0002t0058g0052
a0001c0002t0078g0041
a0001c0002t0086g0221
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0011t0051g0091
a0001c0014t0135g0166
a0001c0016t0052g0099
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0085g0184
a0002c0003t0089g0175
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0104g0208
a0002c0003t0150g0191
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0047g0017
 68 HG00423.hp2
HG01074.hp2
HG01099.hp1
others(65): Show 
HG00423.hp2
HG01074.hp2
HG01099.hp1
HG01109.hp2
HG01167.hp1
HG01168.hp2
HG01884.hp1
HG01891.hp1
HG01928.hp1
HG01981.hp1
HG02040.hp1
HG02056.hp1
HG02074.hp2
HG02083.hp1
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02280.hp1
HG02293.hp1
HG02300.hp1
HG02572.hp1
HG02602.hp1
HG02622.hp1
HG02622.hp2
HG02723.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp2
HG02922.hp2
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03491.hp2
HG03516.hp2
NA18612.hp1
NA18747.hp1
NA18944.hp1
NA18945.hp1
NA18948.hp2
NA18950.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp1
NA18962.hp2
NA18979.hp1
NA18987.hp1
NA18994.hp1
NA18994.hp2
NA19000.hp1
NA19000.hp2
NA19007.hp1
NA19009.hp1
NA19010.hp1
NA19010.hp2
NA19060.hp1
NA19060.hp2
NA19065.hp1
NA19074.hp1
NA19080.hp2
NA19081.hp1
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19090.hp1
NA19091.hp1
NA20129.hp1
NA20300.hp2
 intron_variant MODIFIER c.1867-7176G>T
c.1867-7176G>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 544352
chr17:544802 A
A
 G
G
 173 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(170): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0032g0114
a0001c0001t0032g0204
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0034g0126
a0001c0001t0034g0162
a0001c0001t0069g0012
a0001c0001t0084g0046
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0097g0199
a0001c0001t0098g0147
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0105g0201
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0108g0148
a0001c0001t0110g0127
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0118g0195
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0122g0160
a0001c0001t0127g0159
a0001c0001t0128g0132
a0001c0001t0134g0154
a0001c0001t0138g0161
a0001c0001t0141g0165
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0022g0085
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0049g0048
a0001c0002t0050g0049
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0078g0041
a0001c0002t0086g0221
a0001c0002t0100g0223
a0001c0002t0109g0222
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0001c0011t0051g0091
a0001c0014t0135g0166
a0001c0015t0126g0149
a0001c0016t0052g0099
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0018g0231
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0085g0184
a0002c0003t0089g0175
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0099g0192
a0002c0003t0104g0208
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0145g0187
a0002c0003t0146g0170
a0002c0003t0148g0174
a0002c0003t0150g0191
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0004c0008t0036g0207
a0004c0008t0103g0227
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
a0006c0012t0129g0140
a0007c0013t0132g0163
 173 HG00099.hp1
HG00099.hp2
HG00280.hp2
others(170): Show 
HG00099.hp1
HG00099.hp2
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp2
HG00621.hp1
HG00741.hp2
HG01070.hp2
HG01071.hp1
HG01074.hp2
HG01081.hp2
HG01099.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01346.hp2
HG01361.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02056.hp1
HG02056.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18955.hp1
NA18957.hp1
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18967.hp2
NA18973.hp2
NA18977.hp1
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18990.hp1
NA18994.hp1
NA18994.hp2
NA19000.hp1
NA19000.hp2
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19065.hp1
NA19065.hp2
NA19066.hp2
NA19068.hp2
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19087.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
 intron_variant MODIFIER c.1866+7070T>C
c.1866+7070T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 544802
chr17:544833 A
A
 G
G
 1 a0001c0001t0118g0195
a0001c0001t0118g0195
 1 HG01346.hp2
HG01346.hp2
 intron_variant MODIFIER c.1866+7039T>C
c.1866+7039T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 544833
chr17:544845 C
C
 T
T
 1 a0001c0014t0135g0166
a0001c0014t0135g0166
 1 HG02572.hp1
HG02572.hp1
 intron_variant MODIFIER c.1866+7027G>A
c.1866+7027G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 544845
chr17:544867 C
C
 T
T
 1 a0003c0004t0054g0032
a0003c0004t0054g0032
 1 NA19087.hp2
NA19087.hp2
 intron_variant MODIFIER c.1866+7005G>A
c.1866+7005G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 544867
chr17:545076 T
T
 C
C
 1 a0001c0002t0049g0048
a0001c0002t0049g0048
 1 HG02145.hp2
HG02145.hp2
 intron_variant MODIFIER c.1866+6796A>G
c.1866+6796A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 545076
chr17:545257 T
T
 G
G
 1 a0001c0001t0002g0133
a0001c0001t0002g0133
 1 HG02040.hp2
HG02040.hp2
 intron_variant MODIFIER c.1866+6615A>C
c.1866+6615A>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 545257
chr17:545346 C
C
 T
T
 1 a0001c0001t0113g0122
a0001c0001t0113g0122
 1 HG00741.hp2
HG00741.hp2
 intron_variant MODIFIER c.1866+6526G>A
c.1866+6526G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 545346
chr17:545572 A
A
 G
G
 1 a0001c0001t0002g0137
a0001c0001t0002g0137
 1 NA19009.hp2
NA19009.hp2
 intron_variant MODIFIER c.1866+6300T>C
c.1866+6300T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 545572
chr17:545897 CAAAACAG
others(7): Show 
CAAAACAGTGTTGAA
 C
C
 1 a0006c0012t0129g0140
a0006c0012t0129g0140
 1 NA18978.hp2
NA18978.hp2
 intron_variant MODIFIER c.1866+5961_1866+597
others(18): Show 
c.1866+5961_1866+5974delTTCAACACTGTTTT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 545897
chr17:545926 G
G
 A
A
 4 a0001c0002t0001g0045
a0001c0002t0001g0090
a0001c0002t0025g0075
others(1): Show 
a0001c0002t0001g0045
a0001c0002t0001g0090
a0001c0002t0025g0075
a0001c0002t0067g0076
 4 HG01070.hp1
HG01168.hp1
HG01978.hp1
others(1): Show 
HG01070.hp1
HG01168.hp1
HG01978.hp1
HG02738.hp1
 intron_variant MODIFIER c.1866+5946C>T
c.1866+5946C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 545926
chr17:546207 A
A
 G
G
 104 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(101): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0032g0114
a0001c0001t0032g0204
a0001c0001t0034g0126
a0001c0001t0034g0162
a0001c0001t0069g0012
a0001c0001t0084g0046
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0108g0148
a0001c0001t0110g0127
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0118g0195
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0122g0160
a0001c0001t0128g0132
a0001c0001t0134g0154
a0001c0001t0138g0161
a0001c0001t0141g0165
a0001c0002t0022g0085
a0001c0002t0055g0084
a0001c0002t0100g0223
a0001c0002t0109g0222
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0001c0015t0126g0149
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0018g0231
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0099g0192
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0145g0187
a0002c0003t0146g0170
a0002c0003t0148g0174
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0004c0008t0036g0207
a0004c0008t0103g0227
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
a0006c0012t0129g0140
a0007c0013t0132g0163
 104 HG00099.hp1
HG00099.hp2
HG00280.hp2
others(101): Show 
HG00099.hp1
HG00099.hp2
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00438.hp2
HG00621.hp1
HG00741.hp2
HG01070.hp2
HG01071.hp1
HG01081.hp2
HG01106.hp2
HG01109.hp1
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01346.hp2
HG01361.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp2
HG01884.hp2
HG01891.hp2
HG01928.hp2
HG01978.hp2
HG01981.hp2
HG02040.hp2
HG02056.hp2
HG02074.hp1
HG02083.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02572.hp2
HG02602.hp2
HG02723.hp1
HG02738.hp2
HG02895.hp1
HG02922.hp1
HG03139.hp1
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
NA18612.hp2
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18944.hp2
NA18945.hp2
NA18946.hp1
NA18950.hp2
NA18955.hp1
NA18957.hp1
NA18959.hp1
NA18961.hp2
NA18962.hp1
NA18967.hp2
NA18973.hp2
NA18977.hp1
NA18978.hp1
NA18978.hp2
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18986.hp1
NA18986.hp2
NA18987.hp2
NA18990.hp1
NA19009.hp2
NA19011.hp2
NA19064.hp1
NA19065.hp2
NA19066.hp2
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19079.hp2
NA19080.hp1
NA19087.hp2
NA19090.hp2
NA19091.hp2
NA20129.hp2
NA20300.hp1
 intron_variant MODIFIER c.1866+5665T>C
c.1866+5665T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 546207
chr17:546329 T
T
 TCA
TCA
 39 a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0017g0158
others(36): Show 
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0017g0158
a0001c0001t0030g0120
a0001c0001t0033g0205
a0001c0001t0094g0129
a0001c0001t0098g0147
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0094
a0001c0002t0005g0065
a0001c0002t0013g0078
a0001c0002t0014g0077
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0035g0219
a0001c0002t0043g0064
a0001c0002t0049g0048
a0001c0002t0050g0049
a0001c0002t0072g0071
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0002t0143g0226
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0044g0096
a0002c0003t0073g0068
a0002c0003t0085g0184
a0002c0003t0089g0175
a0002c0003t0104g0208
a0003c0004t0003g0018
a0003c0004t0056g0020
a0003c0004t0064g0042
a0003c0004t0071g0037
a0004c0008t0133g0232
 39 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(36): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00323.hp1
HG00423.hp2
HG00438.hp1
HG00621.hp2
HG00741.hp1
HG01106.hp1
HG01256.hp1
HG01258.hp1
HG01517.hp1
HG01884.hp2
HG02074.hp2
HG02145.hp2
HG02280.hp1
HG02602.hp1
HG02818.hp2
HG02886.hp2
HG03491.hp2
HG04204.hp2
NA18747.hp2
NA18906.hp1
NA18944.hp1
NA18948.hp2
NA18950.hp1
NA18960.hp1
NA18960.hp2
NA18967.hp1
NA18977.hp2
NA18987.hp1
NA19010.hp2
NA19011.hp1
NA19060.hp2
NA19079.hp1
NA19080.hp1
NA19087.hp1
NA19091.hp1
NA20805.hp1
 intron_variant MODIFIER c.1866+5541_1866+554
others(6): Show 
c.1866+5541_1866+5542dupTG
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 546329
chr17:546329 T
T
 TCACA
TCACA
 49 a0001c0001t0015g0135
a0001c0001t0028g0196
a0001c0001t0028g0197
others(46): Show 
a0001c0001t0015g0135
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0033g0206
a0001c0001t0034g0126
a0001c0001t0105g0201
a0001c0001t0112g0157
a0001c0001t0127g0159
a0001c0002t0001g0056
a0001c0002t0001g0082
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0007g0058
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0017g0225
a0001c0002t0038g0224
a0001c0002t0048g0089
a0001c0002t0066g0070
a0001c0002t0076g0050
a0001c0002t0100g0223
a0001c0002t0149g0202
a0001c0005t0042g0044
a0001c0005t0045g0009
a0001c0006t0001g0113
a0001c0006t0039g0003
a0001c0006t0041g0001
a0001c0006t0057g0103
a0001c0016t0052g0099
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0186
a0002c0003t0009g0218
a0002c0003t0027g0181
a0002c0003t0090g0171
a0002c0003t0092g0190
a0002c0003t0139g0167
a0002c0003t0150g0191
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
 49 HG00280.hp2
HG01071.hp2
HG01074.hp1
others(46): Show 
HG00280.hp2
HG01071.hp2
HG01074.hp1
HG01099.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp2
HG01175.hp1
HG01255.hp1
HG01256.hp2
HG01346.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp1
HG01981.hp1
HG02040.hp1
HG02056.hp1
HG02083.hp1
HG02109.hp1
HG02135.hp2
HG02293.hp1
HG02622.hp1
HG02723.hp2
HG02886.hp1
HG03225.hp1
HG03688.hp1
HG03942.hp2
NA18612.hp1
NA18944.hp2
NA18945.hp1
NA18946.hp2
NA18961.hp1
NA18962.hp2
NA18973.hp1
NA18983.hp1
NA19000.hp2
NA19007.hp1
NA19009.hp1
NA19010.hp1
NA19060.hp1
NA19065.hp1
NA19074.hp1
NA19081.hp1
NA19084.hp2
NA19090.hp1
NA20129.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1866+5539_1866+554
others(8): Show 
c.1866+5539_1866+5542dupTGTG
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 546329
chr17:546329 T
T
 TCACACA
TCACACA
 19 a0001c0001t0030g0119
a0001c0001t0095g0145
a0001c0001t0096g0146
others(16): Show 
a0001c0001t0030g0119
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0097g0199
a0001c0001t0106g0117
a0001c0001t0111g0164
a0001c0001t0123g0123
a0001c0002t0001g0045
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0002t0125g0116
a0001c0005t0080g0092
a0001c0006t0040g0002
a0002c0003t0017g0179
a0002c0003t0093g0173
a0003c0004t0025g0038
a0004c0008t0035g0203
a0004c0008t0124g0229
a0004c0008t0142g0228
 19 HG01070.hp1
HG01167.hp1
HG01981.hp2
others(16): Show 
HG01070.hp1
HG01167.hp1
HG01981.hp2
HG02109.hp2
HG02280.hp2
HG02895.hp2
HG02922.hp2
HG03225.hp2
HG04184.hp1
NA18955.hp2
NA18957.hp2
NA18984.hp2
NA18990.hp2
NA19007.hp2
NA19064.hp2
NA19066.hp1
NA19068.hp1
NA19081.hp2
NA20300.hp2
 intron_variant MODIFIER c.1866+5537_1866+554
others(10): Show 
c.1866+5537_1866+5542dupTGTGTG
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 546329
chr17:546329 T
T
 TCACACAC
others(1): Show 
TCACACACA
 7 a0001c0001t0029g0150
a0001c0001t0087g0198
a0001c0002t0007g0062
others(4): Show 
a0001c0001t0029g0150
a0001c0001t0087g0198
a0001c0002t0007g0062
a0001c0002t0067g0076
a0001c0006t0074g0097
a0002c0003t0027g0169
a0002c0003t0091g0209
 7 HG01099.hp2
HG01168.hp1
HG02300.hp1
others(4): Show 
HG01099.hp2
HG01168.hp1
HG02300.hp1
HG02818.hp1
HG03139.hp2
NA18959.hp2
NA19000.hp1
 intron_variant MODIFIER c.1866+5535_1866+554
others(12): Show 
c.1866+5535_1866+5542dupTGTGTGTG
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 546329
chr17:546329 T
T
 TCACACAC
others(3): Show 
TCACACACACA
 5 a0001c0001t0029g0151
a0001c0001t0088g0152
a0001c0002t0025g0075
others(2): Show 
a0001c0001t0029g0151
a0001c0001t0088g0152
a0001c0002t0025g0075
a0001c0002t0086g0221
a0001c0006t0068g0098
 5 HG01884.hp1
HG01978.hp1
HG02145.hp1
others(2): Show 
HG01884.hp1
HG01978.hp1
HG02145.hp1
HG02622.hp2
NA18948.hp1
 intron_variant MODIFIER c.1866+5533_1866+554
others(14): Show 
c.1866+5533_1866+5542dupTGTGTGTGTG
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 546329
chr17:546329 TCA
TCA
 T
T
 18 a0001c0001t0032g0204
a0001c0002t0003g0072
a0002c0003t0018g0172
others(15): Show 
a0001c0001t0032g0204
a0001c0002t0003g0072
a0002c0003t0018g0172
a0002c0010t0038g0156
a0003c0004t0003g0015
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0054g0032
a0004c0008t0036g0207
a0004c0008t0103g0227
 18 HG00423.hp1
HG01081.hp1
HG01257.hp2
others(15): Show 
HG00423.hp1
HG01081.hp1
HG01257.hp2
HG02074.hp1
HG02129.hp1
HG02922.hp1
NA18950.hp2
NA18957.hp1
NA18959.hp1
NA18962.hp1
NA18973.hp2
NA18977.hp1
NA18984.hp1
NA18986.hp2
NA18990.hp1
NA19011.hp2
NA19087.hp2
NA21309.hp1
 intron_variant MODIFIER c.1866+5541_1866+554
others(6): Show 
c.1866+5541_1866+5542delTG
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 546329
chr17:546329 TCACA
TCACA
 T
T
 16 a0001c0002t0022g0085
a0002c0003t0018g0214
a0002c0003t0018g0231
others(13): Show 
a0001c0002t0022g0085
a0002c0003t0018g0214
a0002c0003t0018g0231
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0146g0170
a0002c0003t0148g0174
a0003c0004t0022g0004
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
 16 HG00323.hp2
HG00621.hp1
HG01070.hp2
others(13): Show 
HG00323.hp2
HG00621.hp1
HG01070.hp2
HG01071.hp1
HG02132.hp1
HG02738.hp2
HG03831.hp1
HG03942.hp1
NA18940.hp1
NA18946.hp1
NA18955.hp1
NA18961.hp2
NA18979.hp2
NA18986.hp1
NA19066.hp2
NA19090.hp2
 intron_variant MODIFIER c.1866+5539_1866+554
others(8): Show 
c.1866+5539_1866+5542delTGTG
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 546329
chr17:546329 TCACACA
TCACACA
 T
T
 13 a0001c0001t0032g0114
a0001c0001t0034g0162
a0001c0001t0084g0046
others(10): Show 
a0001c0001t0032g0114
a0001c0001t0034g0162
a0001c0001t0084g0046
a0001c0001t0107g0212
a0001c0001t0122g0160
a0001c0001t0134g0154
a0001c0001t0138g0161
a0001c0001t0141g0165
a0001c0002t0055g0084
a0001c0007t0012g0111
a0001c0015t0126g0149
a0006c0012t0129g0140
a0007c0013t0132g0163
 13 HG01106.hp2
HG01109.hp1
HG01255.hp2
others(10): Show 
HG01106.hp2
HG01109.hp1
HG01255.hp2
HG01257.hp1
HG01258.hp2
HG01978.hp2
HG02723.hp1
HG02895.hp1
HG03516.hp1
HG04204.hp1
NA18906.hp2
NA18978.hp2
NA20300.hp1
 intron_variant MODIFIER c.1866+5537_1866+554
others(10): Show 
c.1866+5537_1866+5542delTGTGTG
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 546329
chr17:546329 TCACACAC
others(1): Show 
TCACACACA
 T
T
 35 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(32): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0069g0012
a0001c0001t0108g0148
a0001c0001t0110g0127
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0128g0132
a0001c0002t0109g0222
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
 35 HG00099.hp1
HG00741.hp2
HG01081.hp2
others(32): Show 
HG00099.hp1
HG00741.hp2
HG01081.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01361.hp2
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01891.hp2
HG01928.hp2
HG02040.hp2
HG02056.hp2
HG02083.hp2
HG02129.hp2
HG02293.hp2
HG02300.hp2
HG02602.hp2
HG03492.hp2
HG03688.hp2
HG04184.hp2
HG04199.hp2
NA18940.hp2
NA18945.hp2
NA18967.hp2
NA18983.hp2
NA18987.hp2
NA19009.hp2
NA19065.hp2
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19079.hp2
NA20129.hp2
 intron_variant MODIFIER c.1866+5535_1866+554
others(12): Show 
c.1866+5535_1866+5542delTGTGTGTG
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 546329
chr17:546329 TCACACAC
others(3): Show 
TCACACACACA
 T
T
 2 a0001c0001t0016g0125
a0001c0001t0118g0195
a0001c0001t0016g0125
a0001c0001t0118g0195
 2 HG01346.hp2
HG02132.hp2
HG01346.hp2
HG02132.hp2
 intron_variant MODIFIER c.1866+5533_1866+554
others(14): Show 
c.1866+5533_1866+5542delTGTGTGTGTG
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 546329
chr17:546329 TCACACAC
others(5): Show 
TCACACACACACA
 T
T
 2 a0001c0002t0078g0041
a0001c0014t0135g0166
a0001c0002t0078g0041
a0001c0014t0135g0166
 2 HG02572.hp1
HG03516.hp2
HG02572.hp1
HG03516.hp2
 intron_variant MODIFIER c.1866+5531_1866+554
others(16): Show 
c.1866+5531_1866+5542delTGTGTGTGTGTG
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 546329
chr17:546329 TCACACAC
others(9): Show 
TCACACACACACACACA
 T
T
 1 a0002c0003t0099g0192
a0002c0003t0099g0192
 1 HG00438.hp2
HG00438.hp2
 intron_variant MODIFIER c.1866+5527_1866+554
others(20): Show 
c.1866+5527_1866+5542delTGTGTGTGTGTGTGTG
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 546329
chr17:546466 A
A
 G
G
 2 a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0028g0196
a0001c0001t0028g0197
 2 HG02622.hp1
HG02723.hp2
HG02622.hp1
HG02723.hp2
 intron_variant MODIFIER c.1866+5406T>C
c.1866+5406T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 546466
chr17:546679 C
C
 T
T
 40 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(37): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0069g0012
a0001c0001t0084g0046
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0110g0127
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0128g0132
a0001c0002t0109g0222
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0006c0012t0129g0140
 40 HG00099.hp1
HG00741.hp2
HG01081.hp2
others(37): Show 
HG00099.hp1
HG00741.hp2
HG01081.hp2
HG01175.hp2
HG01192.hp2
HG01255.hp2
HG01361.hp2
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp2
HG01928.hp2
HG01978.hp2
HG02040.hp2
HG02056.hp2
HG02083.hp2
HG02109.hp2
HG02129.hp2
HG02132.hp2
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02602.hp2
HG03492.hp2
HG03516.hp1
HG03688.hp2
HG04184.hp2
HG04199.hp2
NA18940.hp2
NA18945.hp2
NA18967.hp2
NA18978.hp2
NA18983.hp2
NA18987.hp2
NA19009.hp2
NA19065.hp2
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19079.hp2
 intron_variant MODIFIER c.1866+5193G>A
c.1866+5193G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 546679
chr17:546822 A
A
 T
T
 1 a0001c0002t0007g0062
a0001c0002t0007g0062
 1 NA18959.hp2
NA18959.hp2
 intron_variant MODIFIER c.1866+5050T>A
c.1866+5050T>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 546822
chr17:546869 CCTT
CCTT
 C
C
 13 a0001c0002t0043g0064
a0001c0005t0010g0008
a0001c0005t0019g0006
others(10): Show 
a0001c0002t0043g0064
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0011t0051g0091
a0001c0016t0052g0099
a0002c0003t0089g0175
a0003c0004t0047g0017
 13 HG01074.hp2
HG01168.hp2
HG02074.hp2
others(10): Show 
HG01074.hp2
HG01168.hp2
HG02074.hp2
HG02135.hp2
HG02602.hp1
NA18747.hp1
NA18944.hp1
NA18994.hp1
NA18994.hp2
NA19000.hp2
NA19010.hp2
NA19087.hp1
NA19091.hp1
 intron_variant MODIFIER c.1866+5000_1866+500
others(7): Show 
c.1866+5000_1866+5002delAAG
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 546869
chr17:546870 CT
CT
 C
C
 114 a0001c0001t0002g0134
a0001c0001t0016g0118
a0001c0001t0017g0158
others(111): Show 
a0001c0001t0002g0134
a0001c0001t0016g0118
a0001c0001t0017g0158
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0032g0114
a0001c0001t0032g0204
a0001c0001t0034g0126
a0001c0001t0034g0162
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0106g0117
a0001c0001t0108g0148
a0001c0001t0118g0195
a0001c0001t0122g0160
a0001c0001t0123g0123
a0001c0001t0134g0154
a0001c0001t0138g0161
a0001c0001t0141g0165
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0094
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0010g0087
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0017g0225
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0035g0219
a0001c0002t0048g0089
a0001c0002t0055g0084
a0001c0002t0065g0093
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0077g0095
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0002t0100g0223
a0001c0002t0125g0116
a0001c0002t0143g0226
a0001c0002t0149g0202
a0001c0005t0080g0092
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0074g0097
a0001c0014t0135g0166
a0001c0015t0126g0149
a0002c0003t0017g0179
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0073g0068
a0002c0003t0092g0190
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0145g0187
a0002c0003t0146g0170
a0002c0003t0148g0174
a0002c0010t0038g0156
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0024
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
a0004c0008t0035g0203
a0004c0008t0124g0229
a0004c0008t0133g0232
a0004c0008t0142g0228
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
a0007c0013t0132g0163
 114 HG00099.hp2
HG00140.hp1
HG00280.hp1
others(111): Show 
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00438.hp1
HG00621.hp1
HG00621.hp2
HG00741.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01167.hp2
HG01192.hp1
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp2
HG01496.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01884.hp2
HG01891.hp2
HG01978.hp1
HG01981.hp2
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp1
HG02280.hp2
HG02572.hp1
HG02572.hp2
HG02723.hp1
HG02738.hp2
HG02886.hp1
HG02895.hp1
HG02922.hp1
HG03139.hp1
HG03491.hp1
HG03492.hp1
HG03688.hp1
HG03831.hp1
HG03831.hp2
HG03942.hp2
HG04184.hp1
HG04199.hp1
HG04204.hp1
HG04204.hp2
NA18612.hp2
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18944.hp2
NA18946.hp1
NA18955.hp1
NA18955.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18960.hp1
NA18961.hp2
NA18962.hp1
NA18967.hp1
NA18967.hp2
NA18973.hp1
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18979.hp2
NA18983.hp1
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18990.hp1
NA18990.hp2
NA19007.hp2
NA19011.hp1
NA19011.hp2
NA19060.hp1
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19070.hp1
NA19079.hp1
NA19080.hp1
NA19081.hp2
NA19084.hp1
NA19084.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp2
NA20129.hp2
NA20300.hp1
NA20805.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1866+5001delA
c.1866+5001delA
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 546870
chr17:546870 CTT
CTT
 C
C
 84 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(81): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0069g0012
a0001c0001t0084g0046
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0097g0199
a0001c0001t0098g0147
a0001c0001t0105g0201
a0001c0001t0107g0212
a0001c0001t0110g0127
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0127g0159
a0001c0001t0128g0132
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0049g0048
a0001c0002t0050g0049
a0001c0002t0058g0052
a0001c0002t0078g0041
a0001c0002t0086g0221
a0001c0002t0109g0222
a0001c0006t0068g0098
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0062g0104
a0001c0007t0070g0112
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0085g0184
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0093g0173
a0002c0003t0104g0208
a0002c0003t0150g0191
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0006g0023
 84 HG00099.hp1
HG00423.hp2
HG00741.hp2
others(81): Show 
HG00099.hp1
HG00423.hp2
HG00741.hp2
HG01081.hp2
HG01099.hp1
HG01109.hp2
HG01167.hp1
HG01175.hp2
HG01255.hp2
HG01361.hp2
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp1
HG01891.hp1
HG01928.hp1
HG01928.hp2
HG01978.hp2
HG01981.hp1
HG02040.hp1
HG02040.hp2
HG02056.hp1
HG02056.hp2
HG02083.hp1
HG02129.hp2
HG02132.hp2
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02280.hp1
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02723.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp2
HG02922.hp2
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03491.hp2
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG04184.hp2
HG04199.hp2
NA18612.hp1
NA18940.hp2
NA18945.hp1
NA18945.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18959.hp2
NA18961.hp1
NA18962.hp2
NA18979.hp1
NA18983.hp2
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA19000.hp1
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19060.hp2
NA19065.hp1
NA19065.hp2
NA19068.hp2
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp2
NA19080.hp2
NA19081.hp1
NA20129.hp1
NA20300.hp2
 intron_variant MODIFIER c.1866+5000_1866+500
others(6): Show 
c.1866+5000_1866+5001delAA
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 546870
chr17:546870 CTTTTTTT
others(5): Show 
CTTTTTTTTTTTT
 C
C
 1 a0001c0001t0002g0213
a0001c0001t0002g0213
 1 HG03688.hp2
HG03688.hp2
 intron_variant MODIFIER c.1866+4990_1866+500
others(16): Show 
c.1866+4990_1866+5001delAAAAAAAAAAAA
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 546870
chr17:547068 G
G
 C
C
 2 a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0101g0200
a0001c0001t0102g0220
 2 HG02572.hp2
HG03139.hp1
HG02572.hp2
HG03139.hp1
 intron_variant MODIFIER c.1866+4804C>G
c.1866+4804C>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 547068
chr17:547072 T
T
 A
A
 1 a0004c0008t0103g0227
a0004c0008t0103g0227
 1 NA18973.hp2
NA18973.hp2
 intron_variant MODIFIER c.1866+4800A>T
c.1866+4800A>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 547072
chr17:547099 A
A
 G
G
 1 a0002c0003t0018g0172
a0002c0003t0018g0172
 1 HG02129.hp1
HG02129.hp1
 intron_variant MODIFIER c.1866+4773T>C
c.1866+4773T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 547099
chr17:547153 G
G
 A
A
 69 a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
others(66): Show 
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0097g0199
a0001c0001t0098g0147
a0001c0001t0105g0201
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0127g0159
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0049g0048
a0001c0002t0050g0049
a0001c0002t0058g0052
a0001c0002t0078g0041
a0001c0002t0086g0221
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0011t0051g0091
a0001c0014t0135g0166
a0001c0016t0052g0099
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0085g0184
a0002c0003t0089g0175
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0104g0208
a0002c0003t0150g0191
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0047g0017
 69 HG00423.hp2
HG01074.hp2
HG01099.hp1
others(66): Show 
HG00423.hp2
HG01074.hp2
HG01099.hp1
HG01109.hp2
HG01167.hp1
HG01168.hp2
HG01884.hp1
HG01891.hp1
HG01928.hp1
HG01981.hp1
HG02040.hp1
HG02056.hp1
HG02074.hp2
HG02083.hp1
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02280.hp1
HG02293.hp1
HG02300.hp1
HG02572.hp1
HG02602.hp1
HG02622.hp1
HG02622.hp2
HG02723.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp2
HG02922.hp2
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03491.hp2
HG03516.hp2
NA18612.hp1
NA18747.hp1
NA18944.hp1
NA18945.hp1
NA18948.hp2
NA18950.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp1
NA18962.hp2
NA18979.hp1
NA18987.hp1
NA18994.hp1
NA18994.hp2
NA19000.hp1
NA19000.hp2
NA19007.hp1
NA19009.hp1
NA19010.hp1
NA19010.hp2
NA19060.hp1
NA19060.hp2
NA19065.hp1
NA19074.hp1
NA19080.hp2
NA19081.hp1
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19090.hp1
NA19091.hp1
NA20129.hp1
NA20300.hp2
 intron_variant MODIFIER c.1866+4719C>T
c.1866+4719C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 547153
chr17:547165 C
C
 T
T
 1 a0001c0001t0084g0046
a0001c0001t0084g0046
 1 HG03516.hp1
HG03516.hp1
 intron_variant MODIFIER c.1866+4707G>A
c.1866+4707G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 547165
chr17:547289 C
C
 T
T
 2 a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0030g0119
a0001c0001t0030g0120
 2 HG01884.hp2
HG02280.hp2
HG01884.hp2
HG02280.hp2
 intron_variant MODIFIER c.1866+4583G>A
c.1866+4583G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 547289
chr17:547430 C
C
 G
G
 69 a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
others(66): Show 
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0097g0199
a0001c0001t0098g0147
a0001c0001t0105g0201
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0127g0159
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0049g0048
a0001c0002t0050g0049
a0001c0002t0058g0052
a0001c0002t0078g0041
a0001c0002t0086g0221
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0011t0051g0091
a0001c0014t0135g0166
a0001c0016t0052g0099
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0085g0184
a0002c0003t0089g0175
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0104g0208
a0002c0003t0150g0191
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0047g0017
 69 HG00423.hp2
HG01074.hp2
HG01099.hp1
others(66): Show 
HG00423.hp2
HG01074.hp2
HG01099.hp1
HG01109.hp2
HG01167.hp1
HG01168.hp2
HG01884.hp1
HG01891.hp1
HG01928.hp1
HG01981.hp1
HG02040.hp1
HG02056.hp1
HG02074.hp2
HG02083.hp1
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02280.hp1
HG02293.hp1
HG02300.hp1
HG02572.hp1
HG02602.hp1
HG02622.hp1
HG02622.hp2
HG02723.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp2
HG02922.hp2
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03491.hp2
HG03516.hp2
NA18612.hp1
NA18747.hp1
NA18944.hp1
NA18945.hp1
NA18948.hp2
NA18950.hp1
NA18959.hp2
NA18960.hp2
NA18961.hp1
NA18962.hp2
NA18979.hp1
NA18987.hp1
NA18994.hp1
NA18994.hp2
NA19000.hp1
NA19000.hp2
NA19007.hp1
NA19009.hp1
NA19010.hp1
NA19010.hp2
NA19060.hp1
NA19060.hp2
NA19065.hp1
NA19074.hp1
NA19080.hp2
NA19081.hp1
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19090.hp1
NA19091.hp1
NA20129.hp1
NA20300.hp2
 intron_variant MODIFIER c.1866+4442G>C
c.1866+4442G>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 547430
chr17:547541 C
C
 T
T
 1 a0002c0010t0038g0156
a0002c0010t0038g0156
 1 NA21309.hp1
NA21309.hp1
 intron_variant MODIFIER c.1866+4331G>A
c.1866+4331G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 547541
chr17:547561 A
A
 T
T
 1 a0001c0001t0084g0046
a0001c0001t0084g0046
 1 HG03516.hp1
HG03516.hp1
 intron_variant MODIFIER c.1866+4311T>A
c.1866+4311T>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 547561
chr17:547636 C
C
 CTAAAAAT
others(16): Show 
CTAAAAATATACTAAAAACAACTA
 2 a0001c0001t0015g0131
a0001c0001t0094g0129
a0001c0001t0015g0131
a0001c0001t0094g0129
 2 NA18950.hp1
NA19060.hp2
NA18950.hp1
NA19060.hp2
 intron_variant MODIFIER c.1866+4235_1866+423
others(27): Show 
c.1866+4235_1866+4236insTAGTTGTTTTTAGTATATTTTTA
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 547636
chr17:547638 C
C
 A
A
 2 a0001c0001t0015g0131
a0001c0001t0094g0129
a0001c0001t0015g0131
a0001c0001t0094g0129
 2 NA18950.hp1
NA19060.hp2
NA18950.hp1
NA19060.hp2
 intron_variant MODIFIER c.1866+4234G>T
c.1866+4234G>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 547638
chr17:547641 T
T
 A
A
 1 a0002c0003t0027g0169
a0002c0003t0027g0169
 1 NA19000.hp1
NA19000.hp1
 intron_variant MODIFIER c.1866+4231A>T
c.1866+4231A>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 547641
chr17:547664 G
G
 T
T
 1 a0002c0003t0017g0179
a0002c0003t0017g0179
 1 NA18957.hp2
NA18957.hp2
 intron_variant MODIFIER c.1866+4208C>A
c.1866+4208C>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 547664
chr17:547691 G
G
 T
T
 12 a0001c0002t0043g0064
a0001c0005t0010g0008
a0001c0005t0019g0006
others(9): Show 
a0001c0002t0043g0064
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0002c0003t0089g0175
a0003c0004t0047g0017
 12 HG02074.hp2
HG02135.hp2
HG02602.hp1
others(9): Show 
HG02074.hp2
HG02135.hp2
HG02602.hp1
NA18747.hp1
NA18944.hp1
NA18960.hp2
NA18994.hp1
NA18994.hp2
NA19000.hp2
NA19010.hp2
NA19087.hp1
NA19091.hp1
 intron_variant MODIFIER c.1866+4181C>A
c.1866+4181C>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 547691
chr17:547849 C
C
 G
G
 2 a0001c0001t0108g0148
a0001c0001t0118g0195
a0001c0001t0108g0148
a0001c0001t0118g0195
 2 HG01192.hp1
HG01346.hp2
HG01192.hp1
HG01346.hp2
 intron_variant MODIFIER c.1866+4023G>C
c.1866+4023G>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 547849
chr17:547874 C
C
 T
T
 3 a0002c0003t0008g0182
a0002c0003t0090g0171
a0002c0003t0104g0208
a0002c0003t0008g0182
a0002c0003t0090g0171
a0002c0003t0104g0208
 3 HG02083.hp1
NA18612.hp1
NA18987.hp1
HG02083.hp1
NA18612.hp1
NA18987.hp1
 intron_variant MODIFIER c.1866+3998G>A
c.1866+3998G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 547874
chr17:548083 C
C
 T
T
 23 a0001c0002t0022g0085
a0001c0002t0055g0084
a0001c0002t0100g0223
others(20): Show 
a0001c0002t0022g0085
a0001c0002t0055g0084
a0001c0002t0100g0223
a0001c0002t0125g0116
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0061g0031
a0003c0004t0063g0034
a0004c0008t0103g0227
 23 HG02074.hp1
NA18612.hp2
NA18906.hp2
others(20): Show 
HG02074.hp1
NA18612.hp2
NA18906.hp2
NA18940.hp1
NA18944.hp2
NA18950.hp2
NA18957.hp1
NA18959.hp1
NA18961.hp2
NA18962.hp1
NA18973.hp2
NA18977.hp1
NA18978.hp1
NA18984.hp1
NA18986.hp2
NA18990.hp1
NA19007.hp2
NA19011.hp2
NA19064.hp1
NA19068.hp1
NA19080.hp1
NA19087.hp2
NA19091.hp2
 intron_variant MODIFIER c.1866+3789G>A
c.1866+3789G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 548083
chr17:548124 C
C
 T
T
 1 a0003c0004t0060g0039
a0003c0004t0060g0039
 1 HG03831.hp2
HG03831.hp2
 intron_variant MODIFIER c.1866+3748G>A
c.1866+3748G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 548124
chr17:548149 C
C
 T
T
 59 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(56): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0084g0046
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0097g0199
a0001c0001t0098g0147
a0001c0001t0105g0201
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0110g0127
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0118g0195
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0127g0159
a0001c0001t0128g0132
a0001c0001t0134g0154
a0001c0002t0050g0049
a0001c0002t0109g0222
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0002c0003t0093g0173
a0002c0010t0038g0156
a0006c0012t0129g0140
 59 HG00099.hp1
HG00741.hp2
HG01081.hp2
others(56): Show 
HG00099.hp1
HG00741.hp2
HG01081.hp2
HG01109.hp2
HG01167.hp1
HG01175.hp2
HG01192.hp2
HG01255.hp2
HG01346.hp2
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp2
HG01978.hp2
HG02040.hp2
HG02056.hp2
HG02083.hp2
HG02109.hp2
HG02129.hp2
HG02132.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02602.hp2
HG02622.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp2
HG02922.hp2
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03492.hp2
HG03516.hp1
HG03688.hp2
HG04184.hp2
HG04199.hp2
NA18940.hp2
NA18945.hp2
NA18967.hp2
NA18978.hp2
NA18983.hp2
NA18987.hp2
NA19009.hp2
NA19065.hp2
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA21309.hp1
 intron_variant MODIFIER c.1866+3723G>A
c.1866+3723G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 548149
chr17:548187 A
A
 G
G
 55 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(52): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0069g0012
a0001c0001t0084g0046
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0097g0199
a0001c0001t0105g0201
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0110g0127
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0127g0159
a0001c0001t0128g0132
a0001c0001t0134g0154
a0001c0002t0109g0222
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0002c0010t0038g0156
a0006c0012t0129g0140
 55 HG00099.hp1
HG00741.hp2
HG01081.hp2
others(52): Show 
HG00099.hp1
HG00741.hp2
HG01081.hp2
HG01109.hp2
HG01175.hp2
HG01192.hp2
HG01255.hp2
HG01361.hp2
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp2
HG01978.hp2
HG02040.hp2
HG02056.hp2
HG02083.hp2
HG02109.hp2
HG02129.hp2
HG02132.hp2
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02602.hp2
HG02622.hp2
HG02818.hp1
HG02886.hp2
HG02895.hp2
HG02922.hp2
HG03139.hp2
HG03225.hp1
HG03492.hp2
HG03516.hp1
HG03688.hp2
HG04184.hp2
HG04199.hp2
NA18940.hp2
NA18945.hp2
NA18967.hp2
NA18978.hp2
NA18983.hp2
NA18987.hp2
NA19009.hp2
NA19065.hp2
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19079.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA21309.hp1
 intron_variant MODIFIER c.1866+3685T>C
c.1866+3685T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 548187
chr17:548188 G
G
 C
C
 1 a0001c0001t0123g0123
a0001c0001t0123g0123
 1 NA19081.hp2
NA19081.hp2
 intron_variant MODIFIER c.1866+3684C>G
c.1866+3684C>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 548188
chr17:548332 A
A
 AGAATCAT
others(336): Show 
AGAATCATCCAATGACTACACTCCACTTTGGCCAGCCAACAGTCCTTCTG
GAAATATCCAACGACTACACTCCACTTTGGCCAGCCAACAGTCCTTCTGG
AATCATCCAACGACTACACTCCACTTTGGCCAGCCAACAGTCCTTCTGGA
ATCATCCAACGACTACACTCCACTTTGGCCAGCCAACAGTCCTTCTGGAA
TCATCCAATGACTACACTCCACTTTGGCCAGCCAACAGTCCTTCTGGAAT
CATCCAATGACTACACTCCACTTTGGCCAGCCAACAGTCCTTCTGGAATC
ATCCAATGACTACACTCCACTTTGGCCAGCCAACAGTCCTTCTG
 1 a0001c0001t0095g0145
a0001c0001t0095g0145
 1 NA20300.hp2
NA20300.hp2
 intron_variant MODIFIER c.1866+3539_1866+354
others(347): Show 
c.1866+3539_1866+3540insCAGAAGGACTGTTGGCTGGCCAAAGT
GGAGTGTAGTCATTGGATGATTCCAGAAGGACTGTTGGCTGGCCAAAGTG
GAGTGTAGTCATTGGATGATTCCAGAAGGACTGTTGGCTGGCCAAAGTGG
AGTGTAGTCATTGGATGATTCCAGAAGGACTGTTGGCTGGCCAAAGTGGA
GTGTAGTCGTTGGATGATTCCAGAAGGACTGTTGGCTGGCCAAAGTGGAG
TGTAGTCGTTGGATGATTCCAGAAGGACTGTTGGCTGGCCAAAGTGGAGT
GTAGTCGTTGGATATTTCCAGAAGGACTGTTGGCTGGCCAAAGTGGAGTG
TAGTCATTGGATGATTC
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 548332
chr17:548332 AGAATCAT
others(42): Show 
AGAATCATCCAATGACTACACTCCACTTTGGCCAGCCAACAGTCCTTCTG
 A
A
 9 a0001c0002t0005g0061
a0001c0002t0007g0058
a0001c0002t0007g0062
others(6): Show 
a0001c0002t0005g0061
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0048g0089
a0001c0002t0058g0052
 9 HG02135.hp1
NA18959.hp2
NA18962.hp2
others(6): Show 
HG02135.hp1
NA18959.hp2
NA18962.hp2
NA18979.hp1
NA19007.hp1
NA19009.hp1
NA19065.hp1
NA19084.hp1
NA19090.hp1
 intron_variant MODIFIER c.1866+3491_1866+353
others(53): Show 
c.1866+3491_1866+3539delCAGAAGGACTGTTGGCTGGCCAAAGT
GGAGTGTAGTCATTGGATGATTC
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 548332
chr17:548340 C
C
 T
T
 1 a0001c0001t0108g0148
a0001c0001t0108g0148
 1 HG01192.hp1
HG01192.hp1
 intron_variant MODIFIER c.1866+3532G>A
c.1866+3532G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 548340
chr17:548344 T
T
 C
C
 1 a0003c0004t0056g0020
a0003c0004t0056g0020
 1 NA19080.hp1
NA19080.hp1
 intron_variant MODIFIER c.1866+3528A>G
c.1866+3528A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 548344
chr17:548344 T
T
 TGACTACA
others(42): Show 
TGACTACACTCCACTTTGGCCAGCCAACAGTCCTTCTGGAAATATCCAAC
 2 a0001c0001t0096g0146
a0001c0001t0098g0147
a0001c0001t0096g0146
a0001c0001t0098g0147
 2 HG02818.hp2
HG03225.hp2
HG02818.hp2
HG03225.hp2
 intron_variant MODIFIER c.1866+3527_1866+352
others(53): Show 
c.1866+3527_1866+3528insGTTGGATATTTCCAGAAGGACTGTTG
GCTGGCCAAAGTGGAGTGTAGTC
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 548344
chr17:548371 C
C
 T
T
 3 a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0106g0117
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0106g0117
 3 HG01884.hp2
HG02109.hp2
HG02280.hp2
HG01884.hp2
HG02109.hp2
HG02280.hp2
 intron_variant MODIFIER c.1866+3501G>A
c.1866+3501G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 548371
chr17:548385 T
T
 A
A
 1 a0001c0002t0050g0049
a0001c0002t0050g0049
 1 HG02280.hp1
HG02280.hp1
 intron_variant MODIFIER c.1866+3487A>T
c.1866+3487A>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 548385
chr17:548386 C
C
 T
T
 1 a0001c0002t0050g0049
a0001c0002t0050g0049
 1 HG02280.hp1
HG02280.hp1
 intron_variant MODIFIER c.1866+3486G>A
c.1866+3486G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 548386
chr17:548386 CATCCAAT
others(42): Show 
CATCCAATGACTACACTCCACTTTGGCCAGCCAACAGTCCTTCTGGAAAT
 C
C
 1 a0003c0004t0022g0004
a0003c0004t0022g0004
 1 NA18961.hp2
NA18961.hp2
 intron_variant MODIFIER c.1866+3437_1866+348
others(53): Show 
c.1866+3437_1866+3485delATTTCCAGAAGGACTGTTGGCTGGCC
AAAGTGGAGTGTAGTCATTGGAT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 548386
chr17:548386 CATCCAAT
others(189): Show 
CATCCAATGACTACACTCCACTTTGGCCAGCCAACAGTCCTTCTGGAAAT
ATCCAACGACTACACTCCACTTTGGCCAGCCAACAGTCCTTCTGGAATCA
TCCAACAACTACACTCCACTTTGGCCAGCCAACAGTCCTTCTGGAATCAT
CCAACGACTACACTCCACTTTGGCCAGCCAACAGTCCTTCTGGAAAT
 C
C
 1 a0001c0001t0114g0142
a0001c0001t0114g0142
 1 HG02602.hp2
HG02602.hp2
 intron_variant MODIFIER c.1866+3290_1866+348
others(4): Show 
c.1866+3290_1866+3485del
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 548386
chr17:548393 T
T
 C
C
 5 a0001c0001t0096g0146
a0001c0001t0098g0147
a0001c0001t0118g0195
others(2): Show 
a0001c0001t0096g0146
a0001c0001t0098g0147
a0001c0001t0118g0195
a0001c0002t0050g0049
a0001c0002t0143g0226
 5 HG00140.hp1
HG01346.hp2
HG02280.hp1
others(2): Show 
HG00140.hp1
HG01346.hp2
HG02280.hp1
HG02818.hp2
HG03225.hp2
 intron_variant MODIFIER c.1866+3479A>G
c.1866+3479A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 548393
chr17:548393 T
T
 TGACTACA
others(91): Show 
TGACTACACTCCACTTTGGCCAGCCAACAGTCCTTCTGGAAATATCCAAC
GACTACACTCCACTTTGGCCAGCCAACAGTCCTTCTGGAATCATCCAAC
 1 a0001c0002t0014g0077
a0001c0002t0014g0077
 1 NA18967.hp1
NA18967.hp1
 intron_variant MODIFIER c.1866+3381_1866+347
others(102): Show 
c.1866+3381_1866+3478dupGTTGGATGATTCCAGAAGGACTGTTG
GCTGGCCAAAGTGGAGTGTAGTCGTTGGATATTTCCAGAAGGACTGTTGG
CTGGCCAAAGTGGAGTGTAGTC
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 548393
chr17:548393 TGACTACA
others(42): Show 
TGACTACACTCCACTTTGGCCAGCCAACAGTCCTTCTGGAAATATCCAAC
 T
T
 23 a0001c0001t0002g0121
a0001c0001t0002g0137
a0001c0001t0016g0124
others(20): Show 
a0001c0001t0002g0121
a0001c0001t0002g0137
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0107g0212
a0001c0001t0116g0138
a0001c0001t0119g0144
a0001c0001t0121g0143
a0001c0001t0128g0132
a0001c0002t0043g0064
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0002c0003t0089g0175
a0003c0004t0005g0030
a0003c0004t0047g0017
a0003c0004t0060g0039
a0006c0012t0129g0140
 23 HG01255.hp2
HG02056.hp2
HG02074.hp2
others(20): Show 
HG01255.hp2
HG02056.hp2
HG02074.hp2
HG02132.hp2
HG02135.hp2
HG03831.hp2
HG04199.hp2
NA18747.hp1
NA18944.hp1
NA18945.hp2
NA18960.hp2
NA18978.hp2
NA18983.hp2
NA18987.hp2
NA18994.hp1
NA18994.hp2
NA19000.hp2
NA19009.hp2
NA19010.hp2
NA19060.hp1
NA19068.hp2
NA19087.hp1
NA19091.hp1
 intron_variant MODIFIER c.1866+3430_1866+347
others(53): Show 
c.1866+3430_1866+3478delGTTGGATATTTCCAGAAGGACTGTTG
GCTGGCCAAAGTGGAGTGTAGTC
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 548393
chr17:548393 TGACTACA
others(140): Show 
TGACTACACTCCACTTTGGCCAGCCAACAGTCCTTCTGGAAATATCCAAC
GACTACACTCCACTTTGGCCAGCCAACAGTCCTTCTGGAATCATCCAACA
ACTACACTCCACTTTGGCCAGCCAACAGTCCTTCTGGAATCATCCAAC
 T
T
 1 a0002c0003t0009g0188
a0002c0003t0009g0188
 1 NA19080.hp2
NA19080.hp2
 intron_variant MODIFIER c.1866+3332_1866+347
others(4): Show 
c.1866+3332_1866+3478del
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 548393
chr17:548394 GACTACAC
others(91): Show 
GACTACACTCCACTTTGGCCAGCCAACAGTCCTTCTGGAAATATCCAACG
ACTACACTCCACTTTGGCCAGCCAACAGTCCTTCTGGAATCATCCAACA
 G
G
 5 a0001c0001t0002g0133
a0001c0001t0002g0210
a0001c0001t0110g0127
others(2): Show 
a0001c0001t0002g0133
a0001c0001t0002g0210
a0001c0001t0110g0127
a0001c0001t0113g0122
a0002c0010t0038g0156
 5 HG00741.hp2
HG02040.hp2
NA18940.hp2
others(2): Show 
HG00741.hp2
HG02040.hp2
NA18940.hp2
NA19065.hp2
NA21309.hp1
 intron_variant MODIFIER c.1866+3380_1866+347
others(102): Show 
c.1866+3380_1866+3477delTGTTGGATGATTCCAGAAGGACTGTT
GGCTGGCCAAAGTGGAGTGTAGTCGTTGGATATTTCCAGAAGGACTGTTG
GCTGGCCAAAGTGGAGTGTAGT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 548394
chr17:548432 A
A
 AATCATCC
others(188): Show 
AATCATCCAATGACTACACTCCACTTTGGCCAGCCAACAGTCCTTCTGGA
AATATCCAACGACTACACTCCACTTTGGCCAGCCAACAGTCCTTCTGGAA
ATATCCAACGACTACACTCCACTTTGGCCAGCCAACAGTCCTTCTGGAAT
CATCCAATGACTACACTCCACTTTGGCCAGCCAACAGTCCTTCTGG
 1 a0001c0001t0069g0012
a0001c0001t0069g0012
 1 NA19079.hp2
NA19079.hp2
 intron_variant MODIFIER c.1866+3439_1866+344
others(199): Show 
c.1866+3439_1866+3440insCCAGAAGGACTGTTGGCTGGCCAAAG
TGGAGTGTAGTCATTGGATGATTCCAGAAGGACTGTTGGCTGGCCAAAGT
GGAGTGTAGTCGTTGGATATTTCCAGAAGGACTGTTGGCTGGCCAAAGTG
GAGTGTAGTCGTTGGATATTTCCAGAAGGACTGTTGGCTGGCCAAAGTGG
AGTGTAGTCATTGGATGAT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 548432
chr17:548434 A
A
 T
T
 13 a0001c0001t0002g0128
a0001c0001t0002g0134
a0001c0001t0002g0141
others(10): Show 
a0001c0001t0002g0128
a0001c0001t0002g0134
a0001c0001t0002g0141
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0096g0146
a0001c0001t0098g0147
a0001c0001t0115g0136
a0001c0002t0050g0049
a0001c0005t0019g0007
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0011t0051g0091
 13 HG01074.hp2
HG01361.hp2
HG01515.hp1
others(10): Show 
HG01074.hp2
HG01361.hp2
HG01515.hp1
HG01517.hp2
HG02083.hp2
HG02129.hp2
HG02280.hp1
HG02602.hp1
HG02818.hp2
HG03225.hp2
HG03492.hp2
HG03688.hp2
NA19074.hp2
 intron_variant MODIFIER c.1866+3438T>A
c.1866+3438T>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 548434
chr17:548435 T
T
 C
C
 13 a0001c0001t0002g0128
a0001c0001t0002g0134
a0001c0001t0002g0141
others(10): Show 
a0001c0001t0002g0128
a0001c0001t0002g0134
a0001c0001t0002g0141
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0096g0146
a0001c0001t0098g0147
a0001c0001t0115g0136
a0001c0002t0050g0049
a0001c0005t0019g0007
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0011t0051g0091
 13 HG01074.hp2
HG01361.hp2
HG01515.hp1
others(10): Show 
HG01074.hp2
HG01361.hp2
HG01515.hp1
HG01517.hp2
HG02083.hp2
HG02129.hp2
HG02280.hp1
HG02602.hp1
HG02818.hp2
HG03225.hp2
HG03492.hp2
HG03688.hp2
NA19074.hp2
 intron_variant MODIFIER c.1866+3437A>G
c.1866+3437A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 548435
chr17:548435 T
T
 TATCCAAC
others(42): Show 
TATCCAACGACTACACTCCACTTTGGCCAGCCAACAGTCCTTCTGGAATC
 1 a0003c0004t0006g0016
a0003c0004t0006g0016
 1 NA18962.hp1
NA18962.hp1
 intron_variant MODIFIER c.1866+3388_1866+343
others(53): Show 
c.1866+3388_1866+3436dupGATTCCAGAAGGACTGTTGGCTGGCC
AAAGTGGAGTGTAGTCGTTGGAT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 548435
chr17:548435 T
T
 TATCCAAC
others(238): Show 
TATCCAACGACTACACTCCACTTTGGCCAGCCAACAGTCCTTCTGGAATC
ATCCAACAACTACACTCCACTTTGGCCAGCCAACAGTCCTTCTGGAATCA
TCCAACAACTACACTCCACTTTGGCCAGCCAACAGTCCTTCTGGAATCAT
CCAACGACTACACTCCACTTTGGCCAGCCAACAGTCCTTCTGGAATCATC
CAACAACTACACTCCACTTTGGCCAGCCAACAGTCCTTCTGGAATC
 1 a0003c0004t0003g0015
a0003c0004t0003g0015
 1 HG01257.hp2
HG01257.hp2
 intron_variant MODIFIER c.1866+3436_1866+343
others(249): Show 
c.1866+3436_1866+3437insGATTCCAGAAGGACTGTTGGCTGGCC
AAAGTGGAGTGTAGTTGTTGGATGATTCCAGAAGGACTGTTGGCTGGCCA
AAGTGGAGTGTAGTCGTTGGATGATTCCAGAAGGACTGTTGGCTGGCCAA
AGTGGAGTGTAGTTGTTGGATGATTCCAGAAGGACTGTTGGCTGGCCAAA
GTGGAGTGTAGTTGTTGGATGATTCCAGAAGGACTGTTGGCTGGCCAAAG
TGGAGTGTAGTCGTTGGAT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 548435
chr17:548435 T
T
 TATCCAAC
others(91): Show 
TATCCAACGACTACACTCCACTTTGGCCAGCCAACAGTCCTTCTGGAATC
ATCCAACGACTACACTCCACTTTGGCCAGCCAACAGTCCTTCTGGAATC
 2 a0001c0007t0023g0109
a0001c0007t0070g0112
a0001c0007t0023g0109
a0001c0007t0070g0112
 2 HG01175.hp2
HG01192.hp2
HG01175.hp2
HG01192.hp2
 intron_variant MODIFIER c.1866+3436_1866+343
others(102): Show 
c.1866+3436_1866+3437insGATTCCAGAAGGACTGTTGGCTGGCC
AAAGTGGAGTGTAGTCGTTGGATGATTCCAGAAGGACTGTTGGCTGGCCA
AAGTGGAGTGTAGTCGTTGGAT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 548435
chr17:548435 T
T
 TATCCAAC
others(140): Show 
TATCCAACGACTACACTCCACTTTGGCCAGCCAACAGTCCTTCTGGAATC
ATCCAACGACTACACTCCACTTTGGCCAGCCAACAGTCCTTCTGGAATCA
TCCAACAACTACACTCCACTTTGGCCAGCCAACAGTCCTTCTGGAATC
 2 a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0023
a0003c0004t0006g0024
 2 NA18959.hp1
NA18986.hp2
NA18959.hp1
NA18986.hp2
 intron_variant MODIFIER c.1866+3436_1866+343
others(151): Show 
c.1866+3436_1866+3437insGATTCCAGAAGGACTGTTGGCTGGCC
AAAGTGGAGTGTAGTTGTTGGATGATTCCAGAAGGACTGTTGGCTGGCCA
AAGTGGAGTGTAGTCGTTGGATGATTCCAGAAGGACTGTTGGCTGGCCAA
AGTGGAGTGTAGTCGTTGGAT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 548435
chr17:548435 TATCCAAC
others(91): Show 
TATCCAACGACTACACTCCACTTTGGCCAGCCAACAGTCCTTCTGGAATC
ATCCAACAACTACACTCCACTTTGGCCAGCCAACAGTCCTTCTGGAATC
 T
T
 2 a0001c0001t0117g0230
a0001c0001t0120g0211
a0001c0001t0117g0230
a0001c0001t0120g0211
 2 HG01081.hp2
HG04184.hp2
HG01081.hp2
HG04184.hp2
 intron_variant MODIFIER c.1866+3339_1866+343
others(102): Show 
c.1866+3339_1866+3436delGATTCCAGAAGGACTGTTGGCTGGCC
AAAGTGGAGTGTAGTTGTTGGATGATTCCAGAAGGACTGTTGGCTGGCCA
AAGTGGAGTGTAGTCGTTGGAT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 548435
chr17:548442 C
C
 CGACTACA
others(434): Show 
CGACTACACTCCACTTTGGCCAGCCAACAGTCCTTCTGGAAATATCCAAC
GACTACACTCCACTTTGGCCAGCCAACAGTCCTTCTGGAATCATCCAATG
ACTACACTCCACTTTGGCCAGCCAACAGTCCTTCTGGAATCATCCAACGA
CTACACTCCACTTTGGCCAGCCAACAGTCCTTCTGGAATCATCCAATGAC
TACACTCCACTTTGGCCAGCCAACAGTCCTTCTGGAAATATCCAACGACT
ACACTCCACTTTGGCCAGCCAACAGTCCTTCTGGAATCATCCAACGACTA
CACTCCACTTTGGCCAGCCAACAGTCCTTCTGGAAATATCCAACGACTAC
ACTCCACTTTGGCCAGCCAACAGTCCTTCTGGAAATATCCAACGACTACA
CTCCACTTTGGCCAGCCAACAGTCCTTCTGGAATCATCCAAT
 2 a0001c0001t0034g0126
a0001c0006t0041g0001
a0001c0001t0034g0126
a0001c0006t0041g0001
 2 HG01175.hp1
HG01256.hp2
HG01175.hp1
HG01256.hp2
 intron_variant MODIFIER c.1866+3429_1866+343
others(445): Show 
c.1866+3429_1866+3430insATTGGATGATTCCAGAAGGACTGTTG
GCTGGCCAAAGTGGAGTGTAGTCGTTGGATATTTCCAGAAGGACTGTTGG
CTGGCCAAAGTGGAGTGTAGTCGTTGGATATTTCCAGAAGGACTGTTGGC
TGGCCAAAGTGGAGTGTAGTCGTTGGATGATTCCAGAAGGACTGTTGGCT
GGCCAAAGTGGAGTGTAGTCGTTGGATATTTCCAGAAGGACTGTTGGCTG
GCCAAAGTGGAGTGTAGTCATTGGATGATTCCAGAAGGACTGTTGGCTGG
CCAAAGTGGAGTGTAGTCGTTGGATGATTCCAGAAGGACTGTTGGCTGGC
CAAAGTGGAGTGTAGTCATTGGATGATTCCAGAAGGACTGTTGGCTGGCC
AAAGTGGAGTGTAGTCGTTGGATATTTCCAGAAGGACTGTTGGCTGGCCA
AAGTGGAGTGTAGTC
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 548442
chr17:548442 C
C
 T
T
 9 a0001c0001t0002g0128
a0001c0001t0002g0134
a0001c0001t0002g0141
others(6): Show 
a0001c0001t0002g0128
a0001c0001t0002g0134
a0001c0001t0002g0141
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0069g0012
a0001c0001t0115g0136
a0001c0007t0011g0105
a0001c0007t0011g0106
 9 HG01361.hp2
HG01515.hp1
HG01517.hp2
others(6): Show 
HG01361.hp2
HG01515.hp1
HG01517.hp2
HG02083.hp2
HG02129.hp2
HG03492.hp2
HG03688.hp2
NA19074.hp2
NA19079.hp2
 intron_variant MODIFIER c.1866+3430G>A
c.1866+3430G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 548442
chr17:548443 G
G
 A
A
 1 a0001c0011t0051g0091
a0001c0011t0051g0091
 1 HG01074.hp2
HG01074.hp2
 intron_variant MODIFIER c.1866+3429C>T
c.1866+3429C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 548443
chr17:548443 G
G
 GACTACAC
others(189): Show 
GACTACACTCCACTTTGGCCAGCCAACAGTCCTTCTGGAATCATCCAACG
ACTACACTCCACTTTGGCCAGCCAACAGTCCTTCTGGAATCATCCAACAA
CTACACTCCACTTTGGCCAGCCAACAGTCCTTCTGGAATCATCCAACGAC
TACACTCCACTTTGGCCAGCCAACAGTCCTTCTGGAATCATCCAACA
 1 a0003c0004t0006g0022
a0003c0004t0006g0022
 1 NA18977.hp1
NA18977.hp1
 intron_variant MODIFIER c.1866+3428_1866+342
others(200): Show 
c.1866+3428_1866+3429insTGTTGGATGATTCCAGAAGGACTGTT
GGCTGGCCAAAGTGGAGTGTAGTCGTTGGATGATTCCAGAAGGACTGTTG
GCTGGCCAAAGTGGAGTGTAGTTGTTGGATGATTCCAGAAGGACTGTTGG
CTGGCCAAAGTGGAGTGTAGTCGTTGGATGATTCCAGAAGGACTGTTGGC
TGGCCAAAGTGGAGTGTAGT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 548443
chr17:548443 GACTACAC
others(42): Show 
GACTACACTCCACTTTGGCCAGCCAACAGTCCTTCTGGAATCATCCAACA
 G
G
 5 a0002c0003t0008g0180
a0002c0003t0008g0217
a0002c0003t0091g0209
others(2): Show 
a0002c0003t0008g0180
a0002c0003t0008g0217
a0002c0003t0091g0209
a0002c0003t0150g0191
a0004c0008t0035g0203
 5 HG01099.hp1
HG01981.hp1
HG02293.hp1
others(2): Show 
HG01099.hp1
HG01981.hp1
HG02293.hp1
HG02300.hp1
HG04184.hp1
 intron_variant MODIFIER c.1866+3380_1866+342
others(53): Show 
c.1866+3380_1866+3428delTGTTGGATGATTCCAGAAGGACTGTT
GGCTGGCCAAAGTGGAGTGTAGT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 548443
chr17:548483 T
T
 A
A
 10 a0001c0001t0002g0128
a0001c0001t0034g0162
a0001c0001t0069g0012
others(7): Show 
a0001c0001t0002g0128
a0001c0001t0034g0162
a0001c0001t0069g0012
a0001c0001t0115g0136
a0001c0001t0122g0160
a0001c0001t0138g0161
a0001c0001t0141g0165
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0016t0052g0099
 10 HG01106.hp2
HG01109.hp1
HG01168.hp2
others(7): Show 
HG01106.hp2
HG01109.hp1
HG01168.hp2
HG01257.hp1
HG01258.hp2
HG01361.hp1
HG01496.hp1
HG02129.hp2
HG03492.hp2
NA19079.hp2
 intron_variant MODIFIER c.1866+3389A>T
c.1866+3389A>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 548483
chr17:548484 C
C
 CATCCAAC
others(189): Show 
CATCCAACGACTACACTCCACTTTGGCCAGCCAACAGTCCTTCTGGAAAT
ATCCAACGACTACACTCCACTTTGGCCAGCCAACAGTCCTTCTGGAATCA
TCCAACAACTACACTCCACTTTGGCCAGCCAACAGTCCTTCTGGAATCAT
CCAATGACTACACTCCACTTTGGCCAGCCAACAGTCCTTCTGGAAAT
 1 a0001c0006t0001g0113
a0001c0006t0001g0113
 1 HG03688.hp1
HG03688.hp1
 intron_variant MODIFIER c.1866+3387_1866+338
others(200): Show 
c.1866+3387_1866+3388insATTTCCAGAAGGACTGTTGGCTGGCC
AAAGTGGAGTGTAGTCATTGGATGATTCCAGAAGGACTGTTGGCTGGCCA
AAGTGGAGTGTAGTTGTTGGATGATTCCAGAAGGACTGTTGGCTGGCCAA
AGTGGAGTGTAGTCGTTGGATATTTCCAGAAGGACTGTTGGCTGGCCAAA
GTGGAGTGTAGTCGTTGGAT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 548484
chr17:548484 C
C
 CATCCAAT
others(42): Show 
CATCCAATGACTACACTCCACTTTGGCCAGCCAACAGTCCTTCTGGAAAT
 4 a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0040g0002
others(1): Show 
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0040g0002
a0002c0003t0145g0187
 4 HG01981.hp2
HG03491.hp1
HG03492.hp1
others(1): Show 
HG01981.hp2
HG03491.hp1
HG03492.hp1
HG04199.hp1
 intron_variant MODIFIER c.1866+3387_1866+338
others(53): Show 
c.1866+3387_1866+3388insATTTCCAGAAGGACTGTTGGCTGGCC
AAAGTGGAGTGTAGTCATTGGAT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 548484
chr17:548484 C
C
 T
T
 10 a0001c0001t0002g0128
a0001c0001t0034g0162
a0001c0001t0069g0012
others(7): Show 
a0001c0001t0002g0128
a0001c0001t0034g0162
a0001c0001t0069g0012
a0001c0001t0115g0136
a0001c0001t0122g0160
a0001c0001t0138g0161
a0001c0001t0141g0165
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0016t0052g0099
 10 HG01106.hp2
HG01109.hp1
HG01168.hp2
others(7): Show 
HG01106.hp2
HG01109.hp1
HG01168.hp2
HG01257.hp1
HG01258.hp2
HG01361.hp1
HG01496.hp1
HG02129.hp2
HG03492.hp2
NA19079.hp2
 intron_variant MODIFIER c.1866+3388G>A
c.1866+3388G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 548484
chr17:548484 CATCCAAC
others(91): Show 
CATCCAACAACTACACTCCACTTTGGCCAGCCAACAGTCCTTCTGGAATC
ATCCAACGACTACACTCCACTTTGGCCAGCCAACAGTCCTTCTGGAAAT
 C
C
 14 a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0123g0123
others(11): Show 
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0123g0123
a0001c0002t0017g0225
a0001c0002t0022g0085
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0038g0224
a0001c0002t0125g0116
a0001c0002t0143g0226
a0001c0002t0149g0202
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0023g0107
 14 HG00140.hp1
HG01256.hp1
HG01258.hp1
others(11): Show 
HG00140.hp1
HG01256.hp1
HG01258.hp1
HG01346.hp1
HG01496.hp2
HG01516.hp1
HG01884.hp2
HG01928.hp2
HG02280.hp2
HG02300.hp2
HG03942.hp2
NA18940.hp1
NA19007.hp2
NA19081.hp2
 intron_variant MODIFIER c.1866+3290_1866+338
others(102): Show 
c.1866+3290_1866+3387delATTTCCAGAAGGACTGTTGGCTGGCC
AAAGTGGAGTGTAGTCGTTGGATGATTCCAGAAGGACTGTTGGCTGGCCA
AAGTGGAGTGTAGTTGTTGGAT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 548484
chr17:548490 A
A
 ATGACTAC
others(235): Show 
ATGACTACACTCCACTTTGGCCAGCCAACAGTCCTTCTGGAAATATCCAA
CGACTACACTCCACTTTGGCCAGCCAACAGTCCTTCTGGAATCATCCAAC
AACTACACTCCACTTTGGCCAGCCAACAGTCCTTCTGGAAATATCCAACG
ACTACACTCCACTTTGGCCAGCCAACAGTCCTTCTGGAAATATCCAACGA
CTACACTCCACTTTGGCCAGCCAACAGTCCTTCTGGAATCATC
 1 a0001c0006t0053g0102
a0001c0006t0053g0102
 1 HG00099.hp2
HG00099.hp2
 intron_variant MODIFIER c.1866+3381_1866+338
others(246): Show 
c.1866+3381_1866+3382insGATGATTCCAGAAGGACTGTTGGCTG
GCCAAAGTGGAGTGTAGTCGTTGGATATTTCCAGAAGGACTGTTGGCTGG
CCAAAGTGGAGTGTAGTCGTTGGATATTTCCAGAAGGACTGTTGGCTGGC
CAAAGTGGAGTGTAGTTGTTGGATGATTCCAGAAGGACTGTTGGCTGGCC
AAAGTGGAGTGTAGTCGTTGGATATTTCCAGAAGGACTGTTGGCTGGCCA
AAGTGGAGTGTAGTCA
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 548490
chr17:548491 C
C
 T
T
 19 a0001c0001t0002g0121
a0001c0001t0002g0134
a0001c0001t0002g0137
others(16): Show 
a0001c0001t0002g0121
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0141
a0001c0001t0011g0013
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0096g0146
a0001c0001t0098g0147
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0107g0212
a0001c0001t0116g0138
a0001c0001t0119g0144
a0001c0001t0121g0143
a0001c0001t0128g0132
a0001c0006t0039g0003
a0003c0004t0022g0004
a0006c0012t0129g0140
 19 HG01255.hp2
HG01361.hp2
HG01515.hp2
others(16): Show 
HG01255.hp2
HG01361.hp2
HG01515.hp2
HG02056.hp2
HG02083.hp2
HG02132.hp2
HG02572.hp2
HG02818.hp2
HG03139.hp1
HG03225.hp2
HG04199.hp2
NA18945.hp2
NA18961.hp2
NA18978.hp2
NA18983.hp2
NA18987.hp2
NA19009.hp2
NA19068.hp2
NA19074.hp2
 intron_variant MODIFIER c.1866+3381G>A
c.1866+3381G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 548491
chr17:548492 A
A
 AACTACAC
others(91): Show 
AACTACACTCCACTTTGGCCAGCCAACAGTCCTTCTGGAATCATCCAACA
ACTACACTCCACTTTGGCCAGCCAACAGTCCTTCTGGAATCATCCAACG
 1 a0001c0002t0076g0050
a0001c0002t0076g0050
 1 NA18973.hp1
NA18973.hp1
 intron_variant MODIFIER c.1866+3379_1866+338
others(102): Show 
c.1866+3379_1866+3380insCGTTGGATGATTCCAGAAGGACTGTT
GGCTGGCCAAAGTGGAGTGTAGTTGTTGGATGATTCCAGAAGGACTGTTG
GCTGGCCAAAGTGGAGTGTAGT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 548492
chr17:548492 A
A
 G
G
 75 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0134
others(72): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0141
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0017g0158
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0034g0126
a0001c0001t0034g0162
a0001c0001t0069g0012
a0001c0001t0096g0146
a0001c0001t0098g0147
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0107g0212
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0119g0144
a0001c0001t0121g0143
a0001c0001t0122g0160
a0001c0001t0128g0132
a0001c0001t0138g0161
a0001c0001t0141g0165
a0001c0002t0014g0074
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0050g0049
a0001c0002t0078g0041
a0001c0002t0100g0223
a0001c0002t0109g0222
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0111
a0001c0007t0062g0104
a0001c0011t0051g0091
a0001c0014t0135g0166
a0001c0016t0052g0099
a0002c0003t0008g0183
a0002c0003t0017g0179
a0002c0003t0093g0173
a0002c0003t0099g0192
a0002c0003t0145g0187
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0006g0022
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0061g0031
a0003c0004t0063g0034
a0004c0008t0103g0227
a0004c0008t0124g0229
a0004c0008t0142g0228
a0006c0012t0129g0140
 75 HG00099.hp1
HG00280.hp2
HG00438.hp2
others(72): Show 
HG00099.hp1
HG00280.hp2
HG00438.hp2
HG00741.hp1
HG01074.hp2
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01168.hp2
HG01175.hp1
HG01255.hp1
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01361.hp1
HG01361.hp2
HG01496.hp1
HG01515.hp1
HG01515.hp2
HG01517.hp2
HG01978.hp2
HG01981.hp2
HG02056.hp2
HG02074.hp1
HG02083.hp2
HG02129.hp2
HG02132.hp2
HG02280.hp1
HG02293.hp2
HG02572.hp1
HG02572.hp2
HG02622.hp1
HG02723.hp2
HG02818.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03516.hp2
HG03688.hp1
HG03688.hp2
HG04199.hp1
HG04199.hp2
NA18612.hp2
NA18944.hp2
NA18945.hp2
NA18948.hp1
NA18950.hp2
NA18957.hp1
NA18957.hp2
NA18961.hp2
NA18973.hp2
NA18977.hp1
NA18978.hp1
NA18978.hp2
NA18983.hp2
NA18984.hp1
NA18987.hp2
NA18990.hp1
NA18990.hp2
NA19009.hp2
NA19010.hp1
NA19011.hp2
NA19064.hp1
NA19066.hp1
NA19068.hp1
NA19068.hp2
NA19074.hp2
NA19079.hp2
NA19080.hp1
NA19091.hp2
 intron_variant MODIFIER c.1866+3380T>C
c.1866+3380T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 548492
chr17:548492 AACTACAC
others(42): Show 
AACTACACTCCACTTTGGCCAGCCAACAGTCCTTCTGGAATCATCCAACG
 A
A
 3 a0001c0002t0001g0056
a0001c0002t0001g0082
a0001c0002t0014g0055
a0001c0002t0001g0056
a0001c0002t0001g0082
a0001c0002t0014g0055
 3 HG01167.hp2
HG02886.hp1
homoSapiens_chm13v2.hp1
HG01167.hp2
HG02886.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1866+3331_1866+337
others(53): Show 
c.1866+3331_1866+3379delCGTTGGATGATTCCAGAAGGACTGTT
GGCTGGCCAAAGTGGAGTGTAGT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 548492
chr17:548492 AACTACAC
others(91): Show 
AACTACACTCCACTTTGGCCAGCCAACAGTCCTTCTGGAATCATCCAACG
ACTACACTCCACTTTGGCCAGCCAACAGTCCTTCTGGAAATATCCAACG
 A
A
 1 a0001c0001t0106g0117
a0001c0001t0106g0117
 1 HG02109.hp2
HG02109.hp2
 intron_variant MODIFIER c.1866+3282_1866+337
others(102): Show 
c.1866+3282_1866+3379delCGTTGGATATTTCCAGAAGGACTGTT
GGCTGGCCAAAGTGGAGTGTAGTCGTTGGATGATTCCAGAAGGACTGTTG
GCTGGCCAAAGTGGAGTGTAGT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 548492
chr17:548501 C
C
 A
A
 1 a0001c0001t0118g0195
a0001c0001t0118g0195
 1 HG01346.hp2
HG01346.hp2
 intron_variant MODIFIER c.1866+3371G>T
c.1866+3371G>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 548501
chr17:548517 A
A
 G
G
 1 a0001c0006t0057g0103
a0001c0006t0057g0103
 1 HG00280.hp2
HG00280.hp2
 intron_variant MODIFIER c.1866+3355T>C
c.1866+3355T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 548517
chr17:548532 T
T
 A
A
 25 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0134
others(22): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0141
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0095g0145
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0107g0212
a0001c0001t0116g0138
a0001c0001t0119g0144
a0001c0001t0121g0143
a0001c0001t0128g0132
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0006t0039g0003
a0001c0006t0053g0102
a0001c0007t0011g0105
a0001c0007t0011g0106
a0003c0004t0022g0004
a0006c0012t0129g0140
 25 HG00099.hp2
HG01255.hp2
HG01361.hp1
others(22): Show 
HG00099.hp2
HG01255.hp2
HG01361.hp1
HG01361.hp2
HG01496.hp1
HG01515.hp1
HG01515.hp2
HG01517.hp2
HG02056.hp2
HG02083.hp2
HG02129.hp2
HG02132.hp2
HG02572.hp2
HG03139.hp1
HG03688.hp2
HG04199.hp2
NA18945.hp2
NA18961.hp2
NA18978.hp2
NA18983.hp2
NA18987.hp2
NA19009.hp2
NA19068.hp2
NA19074.hp2
NA20300.hp2
 intron_variant MODIFIER c.1866+3340A>T
c.1866+3340A>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 548532
chr17:548533 C
C
 CATCCAAC
others(189): Show 
CATCCAACAACTACACTCCACTTTGGCCAGCCAACAGTCCTTCTGGAATC
ATCCAATGACTACACTCCACTTTGGCCAGCCAACAGTCCTTCTGGAATCA
TCCAACAACTACACTCCACTTTGGCCAGCCAACAGTCCTTCTGGAAATAT
CCAACGACTACACTCCACTTTGGCCAGCCAACAGTCCTTCTGGAAAT
 1 a0001c0011t0051g0091
a0001c0011t0051g0091
 1 HG01074.hp2
HG01074.hp2
 intron_variant MODIFIER c.1866+3338_1866+333
others(200): Show 
c.1866+3338_1866+3339insATTTCCAGAAGGACTGTTGGCTGGCC
AAAGTGGAGTGTAGTCGTTGGATATTTCCAGAAGGACTGTTGGCTGGCCA
AAGTGGAGTGTAGTTGTTGGATGATTCCAGAAGGACTGTTGGCTGGCCAA
AGTGGAGTGTAGTCATTGGATGATTCCAGAAGGACTGTTGGCTGGCCAAA
GTGGAGTGTAGTTGTTGGAT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 548533
chr17:548533 C
C
 CATCCAAC
others(42): Show 
CATCCAACGACTACACTCCACTTTGGCCAGCCAACAGTCCTTCTGGAAAT
 4 a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
others(1): Show 
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0002c0003t0146g0170
 4 HG00280.hp1
HG00323.hp1
HG04204.hp2
others(1): Show 
HG00280.hp1
HG00323.hp1
HG04204.hp2
NA19090.hp2
 intron_variant MODIFIER c.1866+3290_1866+333
others(53): Show 
c.1866+3290_1866+3338dupATTTCCAGAAGGACTGTTGGCTGGCC
AAAGTGGAGTGTAGTCGTTGGAT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 548533
chr17:548533 C
C
 CATCCAAT
others(140): Show 
CATCCAATGACTACACTCCACTTTGGCCAGCCAACAGTCCTTCTGGAATC
ATCCAACGACTACACTCCACTTTGGCCAGCCAACAGTCCTTCTGGAATCA
TCCAATGACTACACTCCACTTTGGCCAGCCAACAGTCCTTCTGGAAAT
 5 a0001c0001t0034g0162
a0001c0001t0122g0160
a0001c0001t0138g0161
others(2): Show 
a0001c0001t0034g0162
a0001c0001t0122g0160
a0001c0001t0138g0161
a0001c0001t0141g0165
a0001c0016t0052g0099
 5 HG01106.hp2
HG01109.hp1
HG01168.hp2
others(2): Show 
HG01106.hp2
HG01109.hp1
HG01168.hp2
HG01257.hp1
HG01258.hp2
 intron_variant MODIFIER c.1866+3338_1866+333
others(151): Show 
c.1866+3338_1866+3339insATTTCCAGAAGGACTGTTGGCTGGCC
AAAGTGGAGTGTAGTCATTGGATGATTCCAGAAGGACTGTTGGCTGGCCA
AAGTGGAGTGTAGTCGTTGGATGATTCCAGAAGGACTGTTGGCTGGCCAA
AGTGGAGTGTAGTCATTGGAT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 548533
chr17:548533 C
C
 CATCCAAT
others(91): Show 
CATCCAATGACTACACTCCACTTTGGCCAGCCAACAGTCCTTCTGGAATC
ATCCAATGACTACACTCCACTTTGGCCAGCCAACAGTCCTTCTGGAAAT
 4 a0001c0001t0002g0139
a0001c0001t0016g0118
a0001c0006t0068g0098
others(1): Show 
a0001c0001t0002g0139
a0001c0001t0016g0118
a0001c0006t0068g0098
a0001c0006t0074g0097
 4 HG01099.hp2
NA18948.hp1
NA18967.hp2
others(1): Show 
HG01099.hp2
NA18948.hp1
NA18967.hp2
NA19070.hp2
 intron_variant MODIFIER c.1866+3338_1866+333
others(102): Show 
c.1866+3338_1866+3339insATTTCCAGAAGGACTGTTGGCTGGCC
AAAGTGGAGTGTAGTCATTGGATGATTCCAGAAGGACTGTTGGCTGGCCA
AAGTGGAGTGTAGTCATTGGAT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 548533
chr17:548533 C
C
 T
T
 25 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0134
others(22): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0141
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0095g0145
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0107g0212
a0001c0001t0116g0138
a0001c0001t0119g0144
a0001c0001t0121g0143
a0001c0001t0128g0132
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0006t0039g0003
a0001c0006t0053g0102
a0001c0007t0011g0105
a0001c0007t0011g0106
a0003c0004t0022g0004
a0006c0012t0129g0140
 25 HG00099.hp2
HG01255.hp2
HG01361.hp1
others(22): Show 
HG00099.hp2
HG01255.hp2
HG01361.hp1
HG01361.hp2
HG01496.hp1
HG01515.hp1
HG01515.hp2
HG01517.hp2
HG02056.hp2
HG02083.hp2
HG02129.hp2
HG02132.hp2
HG02572.hp2
HG03139.hp1
HG03688.hp2
HG04199.hp2
NA18945.hp2
NA18961.hp2
NA18978.hp2
NA18983.hp2
NA18987.hp2
NA19009.hp2
NA19068.hp2
NA19074.hp2
NA20300.hp2
 intron_variant MODIFIER c.1866+3339G>A
c.1866+3339G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 548533
chr17:548533 CATCCAAC
others(42): Show 
CATCCAACGACTACACTCCACTTTGGCCAGCCAACAGTCCTTCTGGAAAT
 C
C
 38 a0001c0001t0017g0158
a0001c0001t0028g0196
a0001c0001t0029g0151
others(35): Show 
a0001c0001t0017g0158
a0001c0001t0028g0196
a0001c0001t0029g0151
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0097g0199
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0127g0159
a0001c0001t0134g0154
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0005g0061
a0001c0002t0014g0074
a0001c0002t0049g0048
a0001c0002t0086g0221
a0001c0005t0019g0007
a0001c0006t0057g0103
a0001c0014t0135g0166
a0002c0003t0008g0183
a0002c0003t0017g0179
a0002c0003t0085g0184
a0002c0003t0093g0173
a0002c0003t0099g0192
a0002c0003t0104g0208
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0054g0032
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
a0004c0008t0124g0229
a0004c0008t0142g0228
 38 HG00280.hp2
HG00438.hp2
HG00741.hp1
others(35): Show 
HG00280.hp2
HG00438.hp2
HG00741.hp1
HG01071.hp2
HG01074.hp1
HG01167.hp1
HG01255.hp1
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01891.hp1
HG01891.hp2
HG02109.hp1
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02572.hp1
HG02602.hp1
HG02622.hp2
HG02723.hp2
HG02818.hp1
HG02886.hp2
HG02895.hp2
HG02922.hp2
HG03225.hp1
HG03491.hp2
NA18906.hp1
NA18957.hp2
NA18987.hp1
NA18990.hp2
NA19010.hp1
NA19066.hp1
NA19087.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.1866+3290_1866+333
others(53): Show 
c.1866+3290_1866+3338delATTTCCAGAAGGACTGTTGGCTGGCC
AAAGTGGAGTGTAGTCGTTGGAT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 548533
chr17:548540 C
C
 CGACTACA
others(581): Show 
CGACTACACTCCACTTTGGCCAGCCAACAGTCCTTCTGGAATCATCCAAT
GACTACACTCCACTTTGGCCAGCCAACAGTCCTTCTGGAATCATCCAATG
ACTACACTCCACTTTGGCCAGCCAACAGTCCTTCTGGAAATATCCAACGA
CTACACTCCACTTTGGCCAGCCAACAGTCCTTCTGGAATCATCCAACGAC
TACACTCCACTTTGGCCAGCCAACAGTCCTTCTGGAATCATCCAATGACT
ACACTCCACTTTGGCCAGCCAACAGTCCTTCTGGAATCATCCAATGACTA
CACTCCACTTTGGCCAGCCAACAGTCCTTCTGGAAATATCCAACGACTAC
ACTCCACTTTGGCCAGCCAACAGTCCTTCTGGAATCATCCAACGACTACA
CTCCACTTTGGCCAGCCAACAGTCCTTCTGGAATCATCCAATGACTACAC
TCCACTTTGGCCAGCCAACAGTCCTTCTGGAATCATCCAATGACTACACT
CCACTTTGGCCAGCCAACAGTCCTTCTGGAATCATCCAACGACTACACTC
CACTTTGGCCAGCCAACAGTCCTTCTGGAATCATCCAAT
 1 a0001c0002t0035g0219
a0001c0002t0035g0219
 1 HG00438.hp1
HG00438.hp1
 intron_variant MODIFIER c.1866+3331_1866+333
others(592): Show 
c.1866+3331_1866+3332insATTGGATGATTCCAGAAGGACTGTTG
GCTGGCCAAAGTGGAGTGTAGTCGTTGGATGATTCCAGAAGGACTGTTGG
CTGGCCAAAGTGGAGTGTAGTCATTGGATGATTCCAGAAGGACTGTTGGC
TGGCCAAAGTGGAGTGTAGTCATTGGATGATTCCAGAAGGACTGTTGGCT
GGCCAAAGTGGAGTGTAGTCGTTGGATGATTCCAGAAGGACTGTTGGCTG
GCCAAAGTGGAGTGTAGTCGTTGGATATTTCCAGAAGGACTGTTGGCTGG
CCAAAGTGGAGTGTAGTCATTGGATGATTCCAGAAGGACTGTTGGCTGGC
CAAAGTGGAGTGTAGTCATTGGATGATTCCAGAAGGACTGTTGGCTGGCC
AAAGTGGAGTGTAGTCGTTGGATGATTCCAGAAGGACTGTTGGCTGGCCA
AAGTGGAGTGTAGTCGTTGGATATTTCCAGAAGGACTGTTGGCTGGCCAA
AGTGGAGTGTAGTCATTGGATGATTCCAGAAGGACTGTTGGCTGGCCAAA
GTGGAGTGTAGTCATTGGATGATTCCAGAAGGACTGTTGGCTGGCCAAAG
TGGAGTGTAGTC
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 548540
chr17:548540 C
C
 T
T
 11 a0001c0001t0002g0133
a0001c0001t0002g0210
a0001c0001t0034g0126
others(8): Show 
a0001c0001t0002g0133
a0001c0001t0002g0210
a0001c0001t0034g0126
a0001c0001t0096g0146
a0001c0001t0098g0147
a0001c0001t0110g0127
a0001c0002t0003g0072
a0001c0002t0050g0049
a0001c0002t0078g0041
a0001c0006t0041g0001
a0001c0015t0126g0149
 11 HG01081.hp1
HG01175.hp1
HG01256.hp2
others(8): Show 
HG01081.hp1
HG01175.hp1
HG01256.hp2
HG02040.hp2
HG02280.hp1
HG02723.hp1
HG02818.hp2
HG03225.hp2
HG03516.hp2
NA18940.hp2
NA19065.hp2
 intron_variant MODIFIER c.1866+3332G>A
c.1866+3332G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 548540
chr17:548541 G
G
 A
A
 26 a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0084g0046
others(23): Show 
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0084g0046
a0001c0001t0115g0136
a0001c0002t0055g0084
a0001c0002t0100g0223
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0040g0002
a0001c0007t0012g0111
a0001c0007t0062g0104
a0002c0003t0145g0187
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0006g0033
a0003c0004t0025g0038
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0061g0031
a0003c0004t0063g0034
a0004c0008t0103g0227
 26 HG01978.hp2
HG01981.hp2
HG02074.hp1
others(23): Show 
HG01978.hp2
HG01981.hp2
HG02074.hp1
HG02293.hp2
HG02622.hp1
HG03139.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03688.hp1
HG04199.hp1
NA18612.hp2
NA18906.hp2
NA18944.hp2
NA18950.hp2
NA18957.hp1
NA18973.hp2
NA18978.hp1
NA18984.hp1
NA18990.hp1
NA19011.hp2
NA19064.hp1
NA19068.hp1
NA19080.hp1
NA19091.hp2
 intron_variant MODIFIER c.1866+3331C>T
c.1866+3331C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 548541
chr17:548579 A
A
 AATCATCC
others(41): Show 
AATCATCCAACAACTACACTCCACTTTGGCCAGCCAACAGTCCTTCTGG
 1 a0001c0002t0055g0084
a0001c0002t0055g0084
 1 NA18906.hp2
NA18906.hp2
 intron_variant MODIFIER c.1866+3292_1866+329
others(52): Show 
c.1866+3292_1866+3293insCCAGAAGGACTGTTGGCTGGCCAAAG
TGGAGTGTAGTTGTTGGATGAT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 548579
chr17:548579 A
A
 AATCATCC
others(90): Show 
AATCATCCAACGACTACACTCCACTTTGGCCAGCCAACAGTCCTTCTGGA
ATCATCCAACAACTACACTCCACTTTGGCCAGCCAACAGTCCTTCTGG
 1 a0003c0004t0006g0033
a0003c0004t0006g0033
 1 NA18950.hp2
NA18950.hp2
 intron_variant MODIFIER c.1866+3292_1866+329
others(101): Show 
c.1866+3292_1866+3293insCCAGAAGGACTGTTGGCTGGCCAAAG
TGGAGTGTAGTTGTTGGATGATTCCAGAAGGACTGTTGGCTGGCCAAAGT
GGAGTGTAGTCGTTGGATGAT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 548579
chr17:548579 A
A
 AATCATCC
others(286): Show 
AATCATCCAATGACTACACTCCACTTTGGCCAGCCAACAGTCCTTCTGGA
AATATCCAACGACTACACTCCACTTTGGCCAGCCAACAGTCCTTCTGGAA
TCATCCAACAACTACACTCCACTTTGGCCAGCCAACAGTCCTTCTGGAAT
CATCCAACGACTACACTCCACTTTGGCCAGCCAACAGTCCTTCTGGAATC
ATCCAATGACTACACTCCACTTTGGCCAGCCAACAGTCCTTCTGGAAATA
TCCAACGACTACACTCCACTTTGGCCAGCCAACAGTCCTTCTGG
 1 a0001c0001t0032g0204
a0001c0001t0032g0204
 1 HG02922.hp1
HG02922.hp1
 intron_variant MODIFIER c.1866+3292_1866+329
others(297): Show 
c.1866+3292_1866+3293insCCAGAAGGACTGTTGGCTGGCCAAAG
TGGAGTGTAGTCGTTGGATATTTCCAGAAGGACTGTTGGCTGGCCAAAGT
GGAGTGTAGTCATTGGATGATTCCAGAAGGACTGTTGGCTGGCCAAAGTG
GAGTGTAGTCGTTGGATGATTCCAGAAGGACTGTTGGCTGGCCAAAGTGG
AGTGTAGTTGTTGGATGATTCCAGAAGGACTGTTGGCTGGCCAAAGTGGA
GTGTAGTCGTTGGATATTTCCAGAAGGACTGTTGGCTGGCCAAAGTGGAG
TGTAGTCATTGGATGAT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 548579
chr17:548579 A
A
 AATCATCC
others(335): Show 
AATCATCCAATGACTACACTCCACTTTGGCCAGCCAACAGTCCTTCTGGA
ATCATCCAATGACTACACTCCACTTTGGCCAGCCAACAGTCCTTCTGGAA
ATATCCAACGACTACACTCCACTTTGGCCAGCCAACAGTCCTTCTGGAAT
CATCCAACGACTACACTCCACTTTGGCCAGCCAACAGTCCTTCTGGAATC
ATCCAATGACTACACTCCACTTTGGCCAGCCAACAGTCCTTCTGGAATCA
TCCAATGACTACACTCCACTTTGGCCAGCCAACAGTCCTTCTGGAAATAT
CCAACGACTACACTCCACTTTGGCCAGCCAACAGTCCTTCTGG
 1 a0002c0003t0148g0174
a0002c0003t0148g0174
 1 NA18979.hp2
NA18979.hp2
 intron_variant MODIFIER c.1866+3292_1866+329
others(346): Show 
c.1866+3292_1866+3293insCCAGAAGGACTGTTGGCTGGCCAAAG
TGGAGTGTAGTCGTTGGATATTTCCAGAAGGACTGTTGGCTGGCCAAAGT
GGAGTGTAGTCATTGGATGATTCCAGAAGGACTGTTGGCTGGCCAAAGTG
GAGTGTAGTCATTGGATGATTCCAGAAGGACTGTTGGCTGGCCAAAGTGG
AGTGTAGTCGTTGGATGATTCCAGAAGGACTGTTGGCTGGCCAAAGTGGA
GTGTAGTCGTTGGATATTTCCAGAAGGACTGTTGGCTGGCCAAAGTGGAG
TGTAGTCATTGGATGATTCCAGAAGGACTGTTGGCTGGCCAAAGTGGAGT
GTAGTCATTGGATGAT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 548579
chr17:548581 A
A
 T
T
 82 a0001c0001t0002g0128
a0001c0001t0015g0130
a0001c0001t0015g0131
others(79): Show 
a0001c0001t0002g0128
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0029g0150
a0001c0001t0032g0114
a0001c0001t0034g0162
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0098g0147
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0108g0148
a0001c0001t0115g0136
a0001c0001t0122g0160
a0001c0001t0138g0161
a0001c0001t0141g0165
a0001c0002t0014g0077
a0001c0002t0043g0064
a0001c0002t0050g0049
a0001c0002t0067g0076
a0001c0002t0078g0041
a0001c0002t0100g0223
a0001c0002t0109g0222
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0007t0012g0111
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0001c0011t0051g0091
a0001c0016t0052g0099
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0018g0231
a0002c0003t0036g0176
a0002c0003t0089g0175
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0145g0187
a0002c0010t0038g0156
a0003c0004t0003g0015
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0004c0008t0036g0207
a0004c0008t0103g0227
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
 82 HG00099.hp1
HG00323.hp2
HG00423.hp1
others(79): Show 
HG00099.hp1
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00621.hp1
HG01070.hp2
HG01071.hp1
HG01074.hp2
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01168.hp1
HG01168.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp2
HG01515.hp2
HG01978.hp2
HG01981.hp2
HG02074.hp1
HG02074.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp2
HG02280.hp1
HG02293.hp2
HG02572.hp2
HG02738.hp2
HG02818.hp2
HG02895.hp1
HG03139.hp1
HG03139.hp2
HG03225.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03516.hp2
HG03688.hp1
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG04199.hp1
NA18612.hp2
NA18747.hp1
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18948.hp1
NA18950.hp1
NA18955.hp1
NA18957.hp1
NA18959.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18967.hp1
NA18973.hp2
NA18978.hp1
NA18983.hp1
NA18984.hp1
NA18986.hp2
NA18990.hp1
NA18994.hp1
NA18994.hp2
NA19000.hp2
NA19010.hp2
NA19011.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19066.hp2
NA19068.hp1
NA19080.hp1
NA19087.hp1
NA19091.hp1
NA19091.hp2
NA20300.hp2
NA21309.hp1
 intron_variant MODIFIER c.1866+3291T>A
c.1866+3291T>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 548581
chr17:548582 T
T
 C
C
 82 a0001c0001t0002g0128
a0001c0001t0015g0130
a0001c0001t0015g0131
others(79): Show 
a0001c0001t0002g0128
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0029g0150
a0001c0001t0032g0114
a0001c0001t0034g0162
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0098g0147
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0108g0148
a0001c0001t0115g0136
a0001c0001t0122g0160
a0001c0001t0138g0161
a0001c0001t0141g0165
a0001c0002t0014g0077
a0001c0002t0043g0064
a0001c0002t0050g0049
a0001c0002t0067g0076
a0001c0002t0078g0041
a0001c0002t0100g0223
a0001c0002t0109g0222
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0007t0012g0111
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0001c0011t0051g0091
a0001c0016t0052g0099
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0018g0231
a0002c0003t0036g0176
a0002c0003t0089g0175
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0145g0187
a0002c0010t0038g0156
a0003c0004t0003g0015
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0004c0008t0036g0207
a0004c0008t0103g0227
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
 82 HG00099.hp1
HG00323.hp2
HG00423.hp1
others(79): Show 
HG00099.hp1
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00621.hp1
HG01070.hp2
HG01071.hp1
HG01074.hp2
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01168.hp1
HG01168.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp2
HG01515.hp2
HG01978.hp2
HG01981.hp2
HG02074.hp1
HG02074.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp2
HG02280.hp1
HG02293.hp2
HG02572.hp2
HG02738.hp2
HG02818.hp2
HG02895.hp1
HG03139.hp1
HG03139.hp2
HG03225.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03516.hp2
HG03688.hp1
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG04199.hp1
NA18612.hp2
NA18747.hp1
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18948.hp1
NA18950.hp1
NA18955.hp1
NA18957.hp1
NA18959.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18967.hp1
NA18973.hp2
NA18978.hp1
NA18983.hp1
NA18984.hp1
NA18986.hp2
NA18990.hp1
NA18994.hp1
NA18994.hp2
NA19000.hp2
NA19010.hp2
NA19011.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19066.hp2
NA19068.hp1
NA19080.hp1
NA19087.hp1
NA19091.hp1
NA19091.hp2
NA20300.hp2
NA21309.hp1
 intron_variant MODIFIER c.1866+3290A>G
c.1866+3290A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 548582
chr17:548582 T
T
 TATCCAAC
others(42): Show 
TATCCAACGACTACACTCCACTTTGGCCAGCCAACAGTCCTTCTGGAATC
 4 a0001c0001t0028g0197
a0001c0001t0084g0046
a0001c0015t0126g0149
others(1): Show 
a0001c0001t0028g0197
a0001c0001t0084g0046
a0001c0015t0126g0149
a0007c0013t0132g0163
 4 HG02622.hp1
HG02723.hp1
HG03516.hp1
others(1): Show 
HG02622.hp1
HG02723.hp1
HG03516.hp1
HG04204.hp1
 intron_variant MODIFIER c.1866+3289_1866+329
others(53): Show 
c.1866+3289_1866+3290insGATTCCAGAAGGACTGTTGGCTGGCC
AAAGTGGAGTGTAGTCGTTGGAT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 548582
chr17:548582 T
T
 TATCCAAC
others(91): Show 
TATCCAACGACTACACTCCACTTTGGCCAGCCAACAGTCCTTCTGGAATC
ATCCAACAACTACACTCCACTTTGGCCAGCCAACAGTCCTTCTGGAATC
 1 a0001c0001t0118g0195
a0001c0001t0118g0195
 1 HG01346.hp2
HG01346.hp2
 intron_variant MODIFIER c.1866+3289_1866+329
others(102): Show 
c.1866+3289_1866+3290insGATTCCAGAAGGACTGTTGGCTGGCC
AAAGTGGAGTGTAGTTGTTGGATGATTCCAGAAGGACTGTTGGCTGGCCA
AAGTGGAGTGTAGTCGTTGGAT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 548582
chr17:548582 T
T
 TATCCAAC
others(140): Show 
TATCCAACGACTACACTCCACTTTGGCCAGCCAACAGTCCTTCTGGAATC
ATCCAACAACTACACTCCACTTTGGCCAGCCAACAGTCCTTCTGGAATCA
TCCAACGACTACACTCCACTTTGGCCAGCCAACAGTCCTTCTGGAATC
 1 a0002c0003t0037g0168
a0002c0003t0037g0168
 1 HG02132.hp1
HG02132.hp1
 intron_variant MODIFIER c.1866+3289_1866+329
others(151): Show 
c.1866+3289_1866+3290insGATTCCAGAAGGACTGTTGGCTGGCC
AAAGTGGAGTGTAGTCGTTGGATGATTCCAGAAGGACTGTTGGCTGGCCA
AAGTGGAGTGTAGTTGTTGGATGATTCCAGAAGGACTGTTGGCTGGCCAA
AGTGGAGTGTAGTCGTTGGAT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 548582
chr17:548582 T
T
 TC
TC
 4 a0001c0001t0032g0204
a0001c0002t0055g0084
a0002c0003t0148g0174
others(1): Show 
a0001c0001t0032g0204
a0001c0002t0055g0084
a0002c0003t0148g0174
a0003c0004t0006g0033
 4 HG02922.hp1
NA18906.hp2
NA18950.hp2
others(1): Show 
HG02922.hp1
NA18906.hp2
NA18950.hp2
NA18979.hp2
 intron_variant MODIFIER c.1866+3289_1866+329
others(5): Show 
c.1866+3289_1866+3290insG
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 548582
chr17:548589 C
C
 CGACTACA
others(42): Show 
CGACTACACTCCACTTTGGCCAGCCAACAGTCCTTCTGGAATCATCCAAT
 1 a0002c0003t0037g0115
a0002c0003t0037g0115
 1 NA18986.hp1
NA18986.hp1
 intron_variant MODIFIER c.1866+3282_1866+328
others(53): Show 
c.1866+3282_1866+3283insATTGGATGATTCCAGAAGGACTGTTG
GCTGGCCAAAGTGGAGTGTAGTC
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 548589
chr17:548589 C
C
 T
T
 15 a0001c0001t0032g0114
a0001c0005t0019g0006
a0002c0003t0018g0172
others(12): Show 
a0001c0001t0032g0114
a0001c0005t0019g0006
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0018g0231
a0002c0003t0036g0176
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0004c0008t0036g0207
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
 15 HG00323.hp2
HG00423.hp1
HG00621.hp1
others(12): Show 
HG00323.hp2
HG00423.hp1
HG00621.hp1
HG01070.hp2
HG01071.hp1
HG02129.hp1
HG02738.hp2
HG02895.hp1
HG03831.hp1
HG03942.hp1
NA18946.hp1
NA18955.hp1
NA18983.hp1
NA19010.hp2
NA19066.hp2
 intron_variant MODIFIER c.1866+3283G>A
c.1866+3283G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 548589
chr17:548590 G
G
 A
A
 7 a0001c0001t0028g0196
a0001c0001t0095g0145
a0001c0001t0101g0200
others(4): Show 
a0001c0001t0028g0196
a0001c0001t0095g0145
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0002t0078g0041
a0001c0006t0039g0003
a0001c0014t0135g0166
 7 HG01515.hp2
HG02572.hp1
HG02572.hp2
others(4): Show 
HG01515.hp2
HG02572.hp1
HG02572.hp2
HG02723.hp2
HG03139.hp1
HG03516.hp2
NA20300.hp2
 intron_variant MODIFIER c.1866+3282C>T
c.1866+3282C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 548590
chr17:548599 C
C
 G
G
 15 a0001c0002t0043g0064
a0001c0005t0010g0008
a0001c0005t0019g0006
others(12): Show 
a0001c0002t0043g0064
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0002c0003t0089g0175
a0003c0004t0004g0019
a0003c0004t0004g0040
a0003c0004t0047g0017
a0003c0004t0060g0039
a0004c0008t0103g0227
 15 HG02074.hp1
HG02074.hp2
HG02135.hp2
others(12): Show 
HG02074.hp1
HG02074.hp2
HG02135.hp2
HG03831.hp2
NA18747.hp1
NA18944.hp1
NA18960.hp2
NA18973.hp2
NA18984.hp1
NA18994.hp1
NA18994.hp2
NA19000.hp2
NA19010.hp2
NA19087.hp1
NA19091.hp1
 intron_variant MODIFIER c.1866+3273G>C
c.1866+3273G>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 548599
chr17:548615 A
A
 ACAGTCCT
others(140): Show 
ACAGTCCTTCTGGAATCATCCAACAACTACACTCCACTTTGGCCAGCCAA
CAGTCCTTCTGGAATCATCCAACGACTACACTCCACTTTGGCCAGCCAGC
AGTCCTTCTGGAATCATCCAACGACTACACTCCACTTTGGCCAGCCAG
 1 a0001c0002t0003g0072
a0001c0002t0003g0072
 1 HG01081.hp1
HG01081.hp1
 intron_variant MODIFIER c.1866+3256_1866+325
others(151): Show 
c.1866+3256_1866+3257insCTGGCTGGCCAAAGTGGAGTGTAGTC
GTTGGATGATTCCAGAAGGACTGCTGGCTGGCCAAAGTGGAGTGTAGTCG
TTGGATGATTCCAGAAGGACTGTTGGCTGGCCAAAGTGGAGTGTAGTTGT
TGGATGATTCCAGAAGGACTG
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 548615
chr17:548615 A
A
 G
G
 8 a0001c0002t0001g0045
a0001c0006t0057g0103
a0001c0006t0068g0098
others(5): Show 
a0001c0002t0001g0045
a0001c0006t0057g0103
a0001c0006t0068g0098
a0002c0003t0148g0174
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0006g0016
 8 HG00280.hp2
HG01070.hp1
NA18612.hp2
others(5): Show 
HG00280.hp2
HG01070.hp1
NA18612.hp2
NA18948.hp1
NA18962.hp1
NA18979.hp2
NA18990.hp1
NA19011.hp2
 intron_variant MODIFIER c.1866+3257T>C
c.1866+3257T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 548615
chr17:548621 C
C
 A
A
 95 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0137
others(92): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0011g0013
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0017g0158
a0001c0001t0028g0196
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0032g0204
a0001c0001t0034g0162
a0001c0001t0069g0012
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0097g0199
a0001c0001t0105g0201
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0108g0148
a0001c0001t0110g0127
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0119g0144
a0001c0001t0121g0143
a0001c0001t0123g0123
a0001c0001t0128g0132
a0001c0001t0141g0165
a0001c0002t0007g0062
a0001c0002t0017g0225
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0035g0219
a0001c0002t0038g0224
a0001c0002t0043g0064
a0001c0002t0049g0048
a0001c0002t0055g0084
a0001c0002t0086g0221
a0001c0002t0109g0222
a0001c0002t0125g0116
a0001c0002t0143g0226
a0001c0002t0149g0202
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0040g0002
a0001c0006t0053g0102
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0002c0003t0017g0179
a0002c0003t0089g0175
a0002c0003t0099g0192
a0003c0004t0003g0036
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0025
a0003c0004t0004g0040
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0081g0035
a0004c0008t0035g0203
a0004c0008t0103g0227
a0004c0008t0124g0229
a0004c0008t0142g0228
a0006c0012t0129g0140
 95 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(92): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00438.hp1
HG00438.hp2
HG00741.hp1
HG00741.hp2
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp1
HG01258.hp1
HG01346.hp1
HG01361.hp1
HG01361.hp2
HG01496.hp1
HG01496.hp2
HG01516.hp1
HG01884.hp1
HG01884.hp2
HG01928.hp2
HG01978.hp2
HG01981.hp2
HG02056.hp2
HG02074.hp1
HG02074.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp2
HG02723.hp2
HG02818.hp1
HG02922.hp1
HG02922.hp2
HG03139.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03831.hp2
HG03942.hp2
HG04184.hp1
HG04199.hp2
NA18612.hp2
NA18747.hp1
NA18906.hp2
NA18944.hp1
NA18945.hp2
NA18955.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp2
NA18960.hp2
NA18962.hp1
NA18967.hp2
NA18973.hp2
NA18978.hp1
NA18978.hp2
NA18983.hp2
NA18984.hp1
NA18987.hp2
NA18990.hp2
NA18994.hp1
NA18994.hp2
NA19000.hp2
NA19007.hp2
NA19009.hp2
NA19010.hp2
NA19060.hp1
NA19064.hp1
NA19065.hp2
NA19066.hp1
NA19068.hp1
NA19068.hp2
NA19070.hp2
NA19079.hp2
NA19080.hp1
NA19081.hp2
NA19087.hp1
NA19087.hp2
NA19091.hp1
NA19091.hp2
NA21309.hp2
 intron_variant MODIFIER c.1866+3251G>T
c.1866+3251G>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 548621
chr17:548621 C
C
 CTTCTGGA
others(42): Show 
CTTCTGGAAATATCCAACGACTACACTCCACTTTGGCCAGCCAACAGTCA
 3 a0001c0001t0002g0213
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0001t0002g0213
a0001c0007t0011g0105
a0001c0007t0011g0106
 3 HG01515.hp1
HG01517.hp2
HG03688.hp2
HG01515.hp1
HG01517.hp2
HG03688.hp2
 intron_variant MODIFIER c.1866+3250_1866+325
others(53): Show 
c.1866+3250_1866+3251insTGACTGTTGGCTGGCCAAAGTGGAGT
GTAGTCGTTGGATATTTCCAGAA
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 548621
chr17:548621 C
C
 CTTCTGGA
others(91): Show 
CTTCTGGAAATATCCAACGACTACACTCCACTTTGGCCAGCCAACAGTCC
TTCTGGAATCATCCAACGACTACACTCCACTTTGGCCAGCCAGCAGTCA
 1 a0001c0001t0032g0114
a0001c0001t0032g0114
 1 HG02895.hp1
HG02895.hp1
 intron_variant MODIFIER c.1866+3250_1866+325
others(102): Show 
c.1866+3250_1866+3251insTGACTGCTGGCTGGCCAAAGTGGAGT
GTAGTCGTTGGATGATTCCAGAAGGACTGTTGGCTGGCCAAAGTGGAGTG
TAGTCGTTGGATATTTCCAGAA
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 548621
chr17:548621 C
C
 CTTCTGGA
others(42): Show 
CTTCTGGAATCATCCAACGACTACACTCCACTTTGGCCAGCCAGCAGTCA
 1 a0001c0006t0039g0003
a0001c0006t0039g0003
 1 HG01515.hp2
HG01515.hp2
 intron_variant MODIFIER c.1866+3250_1866+325
others(53): Show 
c.1866+3250_1866+3251insTGACTGCTGGCTGGCCAAAGTGGAGT
GTAGTCGTTGGATGATTCCAGAA
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 548621
chr17:548621 C
C
 CTTCTGGA
others(189): Show 
CTTCTGGAATCATCCAATGACTACACTCCACTTTGGCCAGCCAACAGTCC
TTCTGGAAATATCCAACGACTACACTCCACTTTGGCCAGCCAACAGTCCT
TCTGGAATCATCCAACGACTACACTCCACTTTGGCCAGCCAACAGTCCTT
CTGGAATCATCCAACGACTACACTCCACTTTGGCCAGCCAGCAGTCA
 1 a0002c0003t0036g0176
a0002c0003t0036g0176
 1 HG00323.hp2
HG00323.hp2
 intron_variant MODIFIER c.1866+3250_1866+325
others(200): Show 
c.1866+3250_1866+3251insTGACTGCTGGCTGGCCAAAGTGGAGT
GTAGTCGTTGGATGATTCCAGAAGGACTGTTGGCTGGCCAAAGTGGAGTG
TAGTCGTTGGATGATTCCAGAAGGACTGTTGGCTGGCCAAAGTGGAGTGT
AGTCGTTGGATATTTCCAGAAGGACTGTTGGCTGGCCAAAGTGGAGTGTA
GTCATTGGATGATTCCAGAA
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 548621
chr17:548621 C
C
 CTTCTGGA
others(385): Show 
CTTCTGGAATCATCCAATGACTACACTCCACTTTGGCCAGCCAACAGTCC
TTCTGGAAATATCCAACGACTACACTCCACTTTGGCCAGCCAACAGTCCT
TCTGGAATCATCCAACGACTACACTCCACTTTGGCCAGCCAACAGTCCTT
CTGGAATCATCCAATGACTACACTCCACTTTGGCCAGCCAACAGTCCTTC
TGGAATCATCCAATGACTACACTCCACTTTGGCCAGCCAACAGTCCTTCT
GGAAATATCCAACGACTACACTCCACTTTGGCCAGCCAACAGTCCTTCTG
GAATCATCCAACGACTACACTCCACTTTGGCCAGCCAACAGTCCTTCTGG
AATCATCCAACGACTACACTCCACTTTGGCCAGCCAGCAGTCA
 4 a0002c0003t0131g0193
a0002c0003t0140g0194
a0002c0003t0144g0215
others(1): Show 
a0002c0003t0131g0193
a0002c0003t0140g0194
a0002c0003t0144g0215
a0004c0008t0036g0207
 4 HG00423.hp1
HG01070.hp2
HG01071.hp1
others(1): Show 
HG00423.hp1
HG01070.hp2
HG01071.hp1
HG02738.hp2
 intron_variant MODIFIER c.1866+3250_1866+325
others(396): Show 
c.1866+3250_1866+3251insTGACTGCTGGCTGGCCAAAGTGGAGT
GTAGTCGTTGGATGATTCCAGAAGGACTGTTGGCTGGCCAAAGTGGAGTG
TAGTCGTTGGATGATTCCAGAAGGACTGTTGGCTGGCCAAAGTGGAGTGT
AGTCGTTGGATATTTCCAGAAGGACTGTTGGCTGGCCAAAGTGGAGTGTA
GTCATTGGATGATTCCAGAAGGACTGTTGGCTGGCCAAAGTGGAGTGTAG
TCATTGGATGATTCCAGAAGGACTGTTGGCTGGCCAAAGTGGAGTGTAGT
CGTTGGATGATTCCAGAAGGACTGTTGGCTGGCCAAAGTGGAGTGTAGTC
GTTGGATATTTCCAGAAGGACTGTTGGCTGGCCAAAGTGGAGTGTAGTCA
TTGGATGATTCCAGAA
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 548621
chr17:548621 C
C
 CTTCTGGA
others(434): Show 
CTTCTGGAATCATCCAATGACTACACTCCACTTTGGCCAGCCAACAGTCC
TTCTGGAAATATCCAACGACTACACTCCACTTTGGCCAGCCAACAGTCCT
TCTGGAATCATCCAACGACTACACTCCACTTTGGCCAGCCAACAGTCCTT
CTGGAATCATCCAATGACTACACTCCACTTTGGCCAGCCAACAGTCCTTC
TGGAATCATCCAATGACTACACTCCACTTTGGCCAGCCAACAGTCCTTCT
GGAATCATCCAATGACTACACTCCACTTTGGCCAGCCAACAGTCCTTCTG
GAAATATCCAACGACTACACTCCACTTTGGCCAGCCAACAGTCCTTCTGG
AATCATCCAACGACTACACTCCACTTTGGCCAGCCAACAGTCCTTCTGGA
ATCATCCAACGACTACACTCCACTTTGGCCAGCCAGCAGTCA
 4 a0002c0003t0018g0214
a0005c0009t0130g0178
a0005c0009t0137g0189
others(1): Show 
a0002c0003t0018g0214
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
 4 HG00621.hp1
NA18946.hp1
NA18955.hp1
others(1): Show 
HG00621.hp1
NA18946.hp1
NA18955.hp1
NA19066.hp2
 intron_variant MODIFIER c.1866+3250_1866+325
others(445): Show 
c.1866+3250_1866+3251insTGACTGCTGGCTGGCCAAAGTGGAGT
GTAGTCGTTGGATGATTCCAGAAGGACTGTTGGCTGGCCAAAGTGGAGTG
TAGTCGTTGGATGATTCCAGAAGGACTGTTGGCTGGCCAAAGTGGAGTGT
AGTCGTTGGATATTTCCAGAAGGACTGTTGGCTGGCCAAAGTGGAGTGTA
GTCATTGGATGATTCCAGAAGGACTGTTGGCTGGCCAAAGTGGAGTGTAG
TCATTGGATGATTCCAGAAGGACTGTTGGCTGGCCAAAGTGGAGTGTAGT
CATTGGATGATTCCAGAAGGACTGTTGGCTGGCCAAAGTGGAGTGTAGTC
GTTGGATGATTCCAGAAGGACTGTTGGCTGGCCAAAGTGGAGTGTAGTCG
TTGGATATTTCCAGAAGGACTGTTGGCTGGCCAAAGTGGAGTGTAGTCAT
TGGATGATTCCAGAA
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 548621
chr17:548621 C
C
 CTTCTGGA
others(385): Show 
CTTCTGGAATCATCCAATGACTACACTCCACTTTGGCCAGCCAACAGTCC
TTCTGGAAATATCCAACGACTACACTCCACTTTGGCCAGCCAACAGTCCT
TCTGGAATCATCCAACGACTACACTCCACTTTGGCCAGCCAACAGTCCTT
CTGGAATCATCCAATGACTACACTCCACTTTGGCCAGCCAACAGTCCTTC
TGGAATCATCCAATGACTACACTCCACTTTGGCCAGCCAACAGTCCTTCT
GGAATCATCCAATGACTACACTCCACTTTGGCCAGCCAACAGTCCTTCTG
GAATCATCCAATGACTACACTCCACTTTGGCCAGCCAACAGTCCTTCTGG
AATCATCCAACGACTACACTCCACTTTGGCCAGCCAGCAGTCA
 1 a0002c0003t0018g0172
a0002c0003t0018g0172
 1 HG02129.hp1
HG02129.hp1
 intron_variant MODIFIER c.1866+3250_1866+325
others(396): Show 
c.1866+3250_1866+3251insTGACTGCTGGCTGGCCAAAGTGGAGT
GTAGTCGTTGGATGATTCCAGAAGGACTGTTGGCTGGCCAAAGTGGAGTG
TAGTCATTGGATGATTCCAGAAGGACTGTTGGCTGGCCAAAGTGGAGTGT
AGTCATTGGATGATTCCAGAAGGACTGTTGGCTGGCCAAAGTGGAGTGTA
GTCATTGGATGATTCCAGAAGGACTGTTGGCTGGCCAAAGTGGAGTGTAG
TCATTGGATGATTCCAGAAGGACTGTTGGCTGGCCAAAGTGGAGTGTAGT
CGTTGGATGATTCCAGAAGGACTGTTGGCTGGCCAAAGTGGAGTGTAGTC
GTTGGATATTTCCAGAAGGACTGTTGGCTGGCCAAAGTGGAGTGTAGTCA
TTGGATGATTCCAGAA
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 548621
chr17:548621 C
C
 CTTCTGGA
others(189): Show 
CTTCTGGAATCATCCAATGACTACACTCCACTTTGGCCAGCCAACAGTCC
TTCTGGAAATATCCAACGACTACACTCCACTTTGGCCAGCCAACAGTCCT
TCTGGAATCATCCAACGACTACACTCCACTTTGGCCAGCCAACAGTCCTT
CTGGAATCATCCAATGACTACACTCCACTTTGGCCAGCCAGCAGTCA
 1 a0002c0003t0018g0231
a0002c0003t0018g0231
 1 HG03942.hp1
HG03942.hp1
 intron_variant MODIFIER c.1866+3250_1866+325
others(200): Show 
c.1866+3250_1866+3251insTGACTGCTGGCTGGCCAAAGTGGAGT
GTAGTCATTGGATGATTCCAGAAGGACTGTTGGCTGGCCAAAGTGGAGTG
TAGTCGTTGGATGATTCCAGAAGGACTGTTGGCTGGCCAAAGTGGAGTGT
AGTCGTTGGATATTTCCAGAAGGACTGTTGGCTGGCCAAAGTGGAGTGTA
GTCATTGGATGATTCCAGAA
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 548621
chr17:548621 C
C
 CTTCTGGA
others(140): Show 
CTTCTGGAATCATCCAATGACTACACTCCACTTTGGCCAGCCAACAGTCC
TTCTGGAAATATCCAACGACTACACTCCACTTTGGCCAGCCAACAGTCCT
TCTGGAATCATCCAACGACTACACTCCACTTTGGCCAGCCAGCAGTCA
 1 a0002c0003t0136g0216
a0002c0003t0136g0216
 1 HG03831.hp1
HG03831.hp1
 intron_variant MODIFIER c.1866+3250_1866+325
others(151): Show 
c.1866+3250_1866+3251insTGACTGCTGGCTGGCCAAAGTGGAGT
GTAGTCGTTGGATGATTCCAGAAGGACTGTTGGCTGGCCAAAGTGGAGTG
TAGTCGTTGGATATTTCCAGAAGGACTGTTGGCTGGCCAAAGTGGAGTGT
AGTCATTGGATGATTCCAGAA
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 548621
chr17:548625 T
T
 TGGAATCA
others(385): Show 
TGGAATCATCCAATGACTACACTCCACTTTGGCCAGCCAACAGTCCTTCT
GGAAATATCCAACGACTACACTCCACTTTGGCCAGCCAACAGTCCTTCTG
GAATCATCCAACGACTACACTCCACTTTGGCCAGCCAACAGTCCTTCTGG
AATCATCCAATGACTACACTCCACTTTGGCCAGCCAACAGTCCTTCTGGA
ATCATCCAATGACTACACTCCACTTTGGCCAGCCAACAGTCCTTCTGGAA
ATATCCAACGACTACACTCCACTTTGGCCAGCCAACAGTCCTTCTGGAAT
CATCCAACGACTACACTCCACTTTGGCCAGCCAACAGTCCTTCTGGAATC
ATCCAACGACTACACTCCACTTTGGCCAGCCAGCAGTCATTCC
 1 a0002c0003t0139g0167
a0002c0003t0139g0167
 1 NA18983.hp1
NA18983.hp1
 intron_variant MODIFIER c.1866+3246_1866+324
others(396): Show 
c.1866+3246_1866+3247insGGAATGACTGCTGGCTGGCCAAAGTG
GAGTGTAGTCGTTGGATGATTCCAGAAGGACTGTTGGCTGGCCAAAGTGG
AGTGTAGTCGTTGGATGATTCCAGAAGGACTGTTGGCTGGCCAAAGTGGA
GTGTAGTCGTTGGATATTTCCAGAAGGACTGTTGGCTGGCCAAAGTGGAG
TGTAGTCATTGGATGATTCCAGAAGGACTGTTGGCTGGCCAAAGTGGAGT
GTAGTCATTGGATGATTCCAGAAGGACTGTTGGCTGGCCAAAGTGGAGTG
TAGTCGTTGGATGATTCCAGAAGGACTGTTGGCTGGCCAAAGTGGAGTGT
AGTCGTTGGATATTTCCAGAAGGACTGTTGGCTGGCCAAAGTGGAGTGTA
GTCATTGGATGATTCC
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 548625
chr17:548790 T
T
 G
G
 1 a0001c0001t0120g0211
a0001c0001t0120g0211
 1 HG04184.hp2
HG04184.hp2
 intron_variant MODIFIER c.1866+3082A>C
c.1866+3082A>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 548790
chr17:548808 T
T
 G
G
 1 a0002c0010t0038g0156
a0002c0010t0038g0156
 1 NA21309.hp1
NA21309.hp1
 intron_variant MODIFIER c.1866+3064A>C
c.1866+3064A>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 548808
chr17:549138 A
A
 AGG
AGG
 25 a0001c0001t0095g0145
a0001c0001t0108g0148
a0001c0001t0118g0195
others(22): Show 
a0001c0001t0095g0145
a0001c0001t0108g0148
a0001c0001t0118g0195
a0001c0002t0001g0045
a0001c0002t0001g0090
a0001c0002t0005g0065
a0001c0002t0025g0075
a0001c0002t0067g0076
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0099g0192
a0002c0003t0104g0208
a0002c0003t0145g0187
a0002c0003t0150g0191
 25 HG00438.hp2
HG01070.hp1
HG01099.hp1
others(22): Show 
HG00438.hp2
HG01070.hp1
HG01099.hp1
HG01167.hp1
HG01168.hp1
HG01192.hp1
HG01346.hp2
HG01928.hp1
HG01978.hp1
HG01981.hp1
HG02040.hp1
HG02056.hp1
HG02083.hp1
HG02293.hp1
HG02300.hp1
HG02738.hp1
HG04199.hp1
NA18612.hp1
NA18948.hp2
NA18987.hp1
NA19000.hp1
NA19074.hp1
NA19080.hp2
NA19084.hp2
NA20300.hp2
 intron_variant MODIFIER c.1866+2732_1866+273
others(6): Show 
c.1866+2732_1866+2733dupCC
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 549138
chr17:549163 A
A
 G
G
 149 a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
others(146): Show 
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0011g0013
a0001c0001t0017g0158
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0032g0114
a0001c0001t0032g0204
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0034g0126
a0001c0001t0034g0162
a0001c0001t0069g0012
a0001c0001t0084g0046
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0097g0199
a0001c0001t0098g0147
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0105g0201
a0001c0001t0108g0148
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0118g0195
a0001c0001t0122g0160
a0001c0001t0123g0123
a0001c0001t0127g0159
a0001c0001t0128g0132
a0001c0001t0134g0154
a0001c0001t0138g0161
a0001c0001t0141g0165
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0001g0094
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0035g0219
a0001c0002t0038g0224
a0001c0002t0048g0089
a0001c0002t0049g0048
a0001c0002t0050g0049
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0065g0093
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0077g0095
a0001c0002t0078g0041
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0002t0086g0221
a0001c0002t0109g0222
a0001c0002t0125g0116
a0001c0002t0143g0226
a0001c0002t0149g0202
a0001c0005t0010g0008
a0001c0005t0042g0044
a0001c0005t0080g0092
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0007t0062g0104
a0001c0011t0051g0091
a0001c0014t0135g0166
a0001c0015t0126g0149
a0001c0016t0052g0099
a0002c0003t0008g0180
a0002c0003t0008g0183
a0002c0003t0017g0179
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0018g0231
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0073g0068
a0002c0003t0085g0184
a0002c0003t0089g0175
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0146g0170
a0002c0003t0148g0174
a0002c0010t0038g0156
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0022g0004
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
a0004c0008t0035g0203
a0004c0008t0036g0207
a0004c0008t0103g0227
a0004c0008t0124g0229
a0004c0008t0133g0232
a0004c0008t0142g0228
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
 149 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(146): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00438.hp1
HG00621.hp1
HG00621.hp2
HG00741.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01192.hp1
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01496.hp1
HG01515.hp2
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01891.hp1
HG01891.hp2
HG01978.hp1
HG01981.hp2
HG02040.hp2
HG02056.hp2
HG02074.hp2
HG02083.hp2
HG02109.hp1
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02280.hp1
HG02293.hp1
HG02293.hp2
HG02572.hp1
HG02572.hp2
HG02622.hp1
HG02622.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03688.hp1
HG03831.hp1
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04204.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp1
NA18955.hp1
NA18955.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp2
NA18960.hp1
NA18961.hp2
NA18962.hp2
NA18967.hp1
NA18973.hp1
NA18973.hp2
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18984.hp2
NA18986.hp1
NA18990.hp2
NA19000.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19010.hp1
NA19011.hp1
NA19064.hp2
NA19065.hp1
NA19066.hp1
NA19066.hp2
NA19070.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19081.hp2
NA19084.hp1
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1866+2709T>C
c.1866+2709T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 549163
chr17:549219 T
T
 A
A
 1 a0001c0002t0038g0224
a0001c0002t0038g0224
 1 HG01346.hp1
HG01346.hp1
 intron_variant MODIFIER c.1866+2653A>T
c.1866+2653A>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 549219
chr17:549448 G
G
 A
A
 1 a0001c0002t0086g0221
a0001c0002t0086g0221
 1 HG02145.hp1
HG02145.hp1
 intron_variant MODIFIER c.1866+2424C>T
c.1866+2424C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 549448
chr17:549450 A
A
 G
G
 35 a0001c0001t0017g0158
a0001c0001t0031g0153
a0001c0001t0031g0155
others(32): Show 
a0001c0001t0017g0158
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0032g0204
a0001c0001t0034g0162
a0001c0001t0069g0012
a0001c0001t0122g0160
a0001c0001t0134g0154
a0001c0001t0138g0161
a0001c0001t0141g0165
a0001c0002t0078g0041
a0001c0006t0041g0001
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0014t0135g0166
a0001c0015t0126g0149
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0018g0231
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0089g0175
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0146g0170
a0002c0003t0148g0174
a0004c0008t0036g0207
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
a0007c0013t0132g0163
 35 HG00323.hp2
HG00423.hp1
HG00621.hp1
others(32): Show 
HG00323.hp2
HG00423.hp1
HG00621.hp1
HG00741.hp1
HG01070.hp2
HG01071.hp1
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01175.hp1
HG01257.hp1
HG01258.hp2
HG01891.hp2
HG02074.hp2
HG02129.hp1
HG02132.hp1
HG02572.hp1
HG02723.hp1
HG02738.hp2
HG02922.hp1
HG03516.hp2
HG03831.hp1
HG03942.hp1
HG04204.hp1
NA18946.hp1
NA18948.hp1
NA18955.hp1
NA18979.hp2
NA18983.hp1
NA18986.hp1
NA19066.hp2
NA19079.hp2
NA19090.hp2
NA20129.hp2
NA20300.hp1
 intron_variant MODIFIER c.1866+2422T>C
c.1866+2422T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 549450
chr17:549521 G
G
 A
A
 5 a0002c0003t0008g0180
a0002c0003t0008g0183
a0002c0003t0008g0217
others(2): Show 
a0002c0003t0008g0180
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0091g0209
a0002c0003t0150g0191
 5 HG01099.hp1
HG01981.hp1
HG02293.hp1
others(2): Show 
HG01099.hp1
HG01981.hp1
HG02293.hp1
HG02300.hp1
NA19010.hp1
 intron_variant MODIFIER c.1866+2351C>T
c.1866+2351C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 549521
chr17:549581 T
T
 C
C
 36 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(33): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0034g0126
a0001c0001t0069g0012
a0001c0001t0107g0212
a0001c0001t0110g0127
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0119g0144
a0001c0001t0121g0143
a0001c0001t0128g0132
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0003c0004t0056g0020
a0003c0004t0060g0039
a0006c0012t0129g0140
 36 HG01081.hp2
HG01175.hp2
HG01192.hp2
others(33): Show 
HG01081.hp2
HG01175.hp2
HG01192.hp2
HG01255.hp2
HG01256.hp2
HG01361.hp2
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01928.hp2
HG01978.hp2
HG02040.hp2
HG02056.hp2
HG02083.hp2
HG02129.hp2
HG02132.hp2
HG02293.hp2
HG02300.hp2
HG02602.hp2
HG03492.hp2
HG03688.hp2
HG03831.hp2
HG04199.hp2
NA18940.hp2
NA18945.hp2
NA18967.hp2
NA18978.hp2
NA18983.hp2
NA18987.hp2
NA19009.hp2
NA19065.hp2
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19079.hp2
NA19080.hp1
 intron_variant MODIFIER c.1866+2291A>G
c.1866+2291A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 549581
chr17:549583 GA
GA
 G
G
 122 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(119): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0125
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0032g0114
a0001c0001t0034g0126
a0001c0001t0069g0012
a0001c0001t0084g0046
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0098g0147
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0108g0148
a0001c0001t0110g0127
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0118g0195
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0128g0132
a0001c0002t0001g0094
a0001c0002t0005g0065
a0001c0002t0022g0085
a0001c0002t0043g0064
a0001c0002t0049g0048
a0001c0002t0050g0049
a0001c0002t0055g0084
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0002t0086g0221
a0001c0002t0100g0223
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0001c0011t0051g0091
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0085g0184
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0099g0192
a0002c0003t0104g0208
a0002c0003t0145g0187
a0002c0003t0150g0191
a0002c0010t0038g0156
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
a0006c0012t0129g0140
 122 HG00423.hp2
HG00438.hp2
HG00741.hp2
others(119): Show 
HG00423.hp2
HG00438.hp2
HG00741.hp2
HG01074.hp2
HG01081.hp2
HG01099.hp1
HG01167.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp2
HG01346.hp2
HG01361.hp2
HG01496.hp2
HG01515.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp2
HG01928.hp1
HG01928.hp2
HG01978.hp2
HG01981.hp1
HG02040.hp1
HG02040.hp2
HG02056.hp1
HG02056.hp2
HG02074.hp1
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02723.hp2
HG02818.hp2
HG02895.hp1
HG03225.hp2
HG03491.hp2
HG03492.hp2
HG03516.hp1
HG03688.hp2
HG03831.hp2
HG04184.hp2
HG04199.hp1
HG04199.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18955.hp2
NA18957.hp1
NA18959.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18967.hp2
NA18977.hp1
NA18978.hp2
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18990.hp1
NA18994.hp1
NA18994.hp2
NA19000.hp1
NA19000.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp2
NA19068.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19084.hp2
NA19087.hp1
NA19087.hp2
NA19091.hp1
NA19091.hp2
NA20300.hp2
NA20805.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.1866+2288delT
c.1866+2288delT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 549583
chr17:549631 G
G
 A
A
 1 a0001c0001t0118g0195
a0001c0001t0118g0195
 1 HG01346.hp2
HG01346.hp2
 intron_variant MODIFIER c.1866+2241C>T
c.1866+2241C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 549631
chr17:549658 T
T
 C
C
 135 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(132): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0032g0114
a0001c0001t0034g0126
a0001c0001t0069g0012
a0001c0001t0084g0046
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0098g0147
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0108g0148
a0001c0001t0110g0127
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0118g0195
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0128g0132
a0001c0002t0001g0094
a0001c0002t0005g0065
a0001c0002t0022g0085
a0001c0002t0043g0064
a0001c0002t0049g0048
a0001c0002t0050g0049
a0001c0002t0055g0084
a0001c0002t0065g0093
a0001c0002t0066g0070
a0001c0002t0077g0095
a0001c0002t0086g0221
a0001c0002t0100g0223
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0001c0011t0051g0091
a0001c0016t0052g0099
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0085g0184
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0104g0208
a0002c0003t0145g0187
a0002c0003t0150g0191
a0002c0010t0038g0156
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
a0006c0012t0129g0140
 135 HG00099.hp2
HG00280.hp2
HG00423.hp2
others(132): Show 
HG00099.hp2
HG00280.hp2
HG00423.hp2
HG00741.hp2
HG01074.hp2
HG01081.hp2
HG01099.hp1
HG01167.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp2
HG01346.hp2
HG01361.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp2
HG01928.hp1
HG01928.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02056.hp1
HG02056.hp2
HG02074.hp1
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02723.hp2
HG02818.hp2
HG02895.hp1
HG03139.hp1
HG03225.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03688.hp1
HG03688.hp2
HG03831.hp2
HG04184.hp2
HG04199.hp1
HG04199.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18955.hp2
NA18957.hp1
NA18959.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18967.hp2
NA18977.hp1
NA18978.hp1
NA18978.hp2
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18990.hp1
NA18994.hp1
NA18994.hp2
NA19000.hp1
NA19000.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19084.hp2
NA19087.hp1
NA19087.hp2
NA19091.hp1
NA19091.hp2
NA20300.hp2
NA20805.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.1866+2214A>G
c.1866+2214A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 549658
chr17:549725 C
C
 T
T
 52 a0001c0001t0017g0158
a0001c0001t0029g0150
a0001c0001t0029g0151
others(49): Show 
a0001c0001t0017g0158
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0032g0204
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0034g0162
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0097g0199
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0105g0201
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0122g0160
a0001c0001t0127g0159
a0001c0001t0138g0161
a0001c0001t0141g0165
a0001c0002t0078g0041
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0014t0135g0166
a0001c0015t0126g0149
a0001c0016t0052g0099
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0018g0231
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0089g0175
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0146g0170
a0002c0003t0148g0174
a0004c0008t0036g0207
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
a0007c0013t0132g0163
 52 HG00099.hp2
HG00280.hp2
HG00323.hp2
others(49): Show 
HG00099.hp2
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00621.hp1
HG00741.hp1
HG01070.hp2
HG01071.hp1
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01168.hp2
HG01175.hp1
HG01257.hp1
HG01258.hp2
HG01515.hp2
HG01884.hp1
HG01891.hp1
HG01981.hp2
HG02074.hp2
HG02129.hp1
HG02132.hp1
HG02572.hp1
HG02572.hp2
HG02622.hp2
HG02723.hp1
HG02738.hp2
HG02818.hp1
HG02886.hp2
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03491.hp1
HG03492.hp1
HG03516.hp2
HG03688.hp1
HG03831.hp1
HG03942.hp1
HG04204.hp1
NA18946.hp1
NA18948.hp1
NA18955.hp1
NA18979.hp2
NA18983.hp1
NA18986.hp1
NA19066.hp2
NA19090.hp2
NA20129.hp1
 intron_variant MODIFIER c.1866+2147G>A
c.1866+2147G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 549725
chr17:549726 G
G
 A
A
 14 a0001c0001t0115g0136
a0001c0002t0043g0064
a0001c0005t0010g0008
others(11): Show 
a0001c0001t0115g0136
a0001c0002t0043g0064
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0011t0051g0091
a0003c0004t0005g0030
a0003c0004t0047g0017
 14 HG01074.hp2
HG02135.hp2
HG02602.hp1
others(11): Show 
HG01074.hp2
HG02135.hp2
HG02602.hp1
HG03492.hp2
NA18747.hp1
NA18944.hp1
NA18960.hp2
NA18994.hp1
NA18994.hp2
NA19000.hp2
NA19010.hp2
NA19060.hp1
NA19087.hp1
NA19091.hp1
 intron_variant MODIFIER c.1866+2146C>T
c.1866+2146C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 549726
chr17:549843 G
G
 A
A
 2 a0001c0002t0078g0041
a0001c0014t0135g0166
a0001c0002t0078g0041
a0001c0014t0135g0166
 2 HG02572.hp1
HG03516.hp2
HG02572.hp1
HG03516.hp2
 intron_variant MODIFIER c.1866+2029C>T
c.1866+2029C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 549843
chr17:550099 C
C
 T
T
 9 a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0032g0114
others(6): Show 
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0032g0114
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0098g0147
a0001c0001t0108g0148
a0001c0002t0050g0049
a0001c0002t0055g0084
 9 HG01192.hp1
HG02280.hp1
HG02622.hp1
others(6): Show 
HG01192.hp1
HG02280.hp1
HG02622.hp1
HG02723.hp2
HG02818.hp2
HG02895.hp1
HG03225.hp2
NA18906.hp2
NA20300.hp2
 intron_variant MODIFIER c.1866+1773G>A
c.1866+1773G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 550099
chr17:550104 G
G
 A
A
 1 a0001c0002t0066g0070
a0001c0002t0066g0070
 1 NA18946.hp2
NA18946.hp2
 intron_variant MODIFIER c.1866+1768C>T
c.1866+1768C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 550104
chr17:550294 G
G
 A
A
 24 a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0031g0153
others(21): Show 
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0097g0199
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0105g0201
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0127g0159
a0001c0001t0134g0154
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0016t0052g0099
 24 HG00099.hp2
HG00280.hp2
HG01109.hp2
others(21): Show 
HG00099.hp2
HG00280.hp2
HG01109.hp2
HG01168.hp2
HG01515.hp2
HG01884.hp1
HG01891.hp1
HG01891.hp2
HG01981.hp2
HG02572.hp2
HG02622.hp2
HG02818.hp1
HG02886.hp2
HG02895.hp2
HG02922.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03491.hp1
HG03492.hp1
HG03688.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
 intron_variant MODIFIER c.1866+1578C>T
c.1866+1578C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 550294
chr17:550438 A
A
 C
C
 1 a0001c0001t0084g0046
a0001c0001t0084g0046
 1 HG03516.hp1
HG03516.hp1
 intron_variant MODIFIER c.1866+1434T>G
c.1866+1434T>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 550438
chr17:550539 A
A
 T
T
 4 a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
others(1): Show 
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
 4 NA18950.hp2
NA18959.hp1
NA18977.hp1
others(1): Show 
NA18950.hp2
NA18959.hp1
NA18977.hp1
NA18986.hp2
 intron_variant MODIFIER c.1866+1333T>A
c.1866+1333T>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 550539
chr17:550592 A
A
 G
G
 1 a0002c0003t0008g0182
a0002c0003t0008g0182
 1 HG02083.hp1
HG02083.hp1
 intron_variant MODIFIER c.1866+1280T>C
c.1866+1280T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 550592
chr17:550691 C
C
 T
T
 5 a0001c0001t0032g0114
a0001c0001t0095g0145
a0001c0001t0096g0146
others(2): Show 
a0001c0001t0032g0114
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0098g0147
a0001c0002t0050g0049
 5 HG02280.hp1
HG02818.hp2
HG02895.hp1
others(2): Show 
HG02280.hp1
HG02818.hp2
HG02895.hp1
HG03225.hp2
NA20300.hp2
 intron_variant MODIFIER c.1866+1181G>A
c.1866+1181G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 550691
chr17:550707 GGGGGTGA
others(434): Show 
GGGGGTGAAAGACATGGTCTGTGCACTTACGGAATTGACATTCATTTGGG
AAAAAAAGGCATAGGCACATAAAAGTCAAAAATAGGAAGATGAGGTAGCG
CTCAGTAAGTGCCAAAGGAGGAGACTTGAGGGCCAAGGGCTGACTGATGG
GCCACCACGATATTAGAAAACCAGAGTTCACAACCTGATCAAATACTCTT
ACATTGGCACCAGAGCTCAGAAGGAGTTGGAAAAACCTCTCAGTGGGCAA
GAATGAAGAATGAGTCAGAAGTTACTACTTTAAGCACTAATGAAAACACC
CATTCTGGTGAGACCACACCAAGGTTTTTAGCATGTGTCAGATACTAATC
AAAGATAATACGTAAATAAAGGACATGGCTGATTGGTTTTTAATTAACAA
AAATGAATCTCCCATATTCAAGACTACATGAGAGATAAAAGA
 G
G
 1 a0001c0001t0002g0121
a0001c0001t0002g0121
 1 NA18983.hp2
NA18983.hp2
 intron_variant MODIFIER c.1866+724_1866+1164
others(3): Show 
c.1866+724_1866+1164del
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 550707
chr17:551067 C
C
 T
T
 10 a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0106g0117
others(7): Show 
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0106g0117
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
 10 HG01257.hp2
HG01516.hp2
HG01517.hp1
others(7): Show 
HG01257.hp2
HG01516.hp2
HG01517.hp1
HG01884.hp2
HG02109.hp1
HG02109.hp2
HG02280.hp2
NA18906.hp1
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.1866+805G>A
c.1866+805G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 551067
chr17:551265 A
A
 G
G
 7 a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
others(4): Show 
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
 7 HG01257.hp2
HG01516.hp2
HG01517.hp1
others(4): Show 
HG01257.hp2
HG01516.hp2
HG01517.hp1
HG02109.hp1
NA18906.hp1
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.1866+607T>C
c.1866+607T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 551265
chr17:551334 C
C
 T
T
 1 a0001c0001t0120g0211
a0001c0001t0120g0211
 1 HG04184.hp2
HG04184.hp2
 intron_variant MODIFIER c.1866+538G>A
c.1866+538G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 551334
chr17:551633 C
C
 CT
CT
 45 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(42): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0034g0126
a0001c0001t0069g0012
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0110g0127
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0128g0132
a0001c0002t0066g0070
a0001c0002t0072g0071
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0002c0003t0073g0068
a0002c0010t0038g0156
a0003c0004t0056g0020
a0003c0004t0060g0039
 45 HG00621.hp2
HG00741.hp2
HG01081.hp2
others(42): Show 
HG00621.hp2
HG00741.hp2
HG01081.hp2
HG01175.hp2
HG01192.hp2
HG01255.hp2
HG01256.hp2
HG01361.hp2
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp2
HG01928.hp2
HG01978.hp2
HG02040.hp2
HG02056.hp2
HG02083.hp2
HG02109.hp2
HG02129.hp2
HG02132.hp2
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02602.hp2
HG03492.hp2
HG03688.hp2
HG03831.hp2
HG04184.hp2
HG04199.hp2
NA18940.hp2
NA18945.hp2
NA18946.hp2
NA18960.hp1
NA18967.hp2
NA18977.hp2
NA18983.hp2
NA19009.hp2
NA19065.hp2
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA21309.hp1
 intron_variant MODIFIER c.1866+238dupA
c.1866+238dupA
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 551633
chr17:551703 C
C
 T
T
 1 a0001c0001t0032g0204
a0001c0001t0032g0204
 1 HG02922.hp1
HG02922.hp1
 intron_variant MODIFIER c.1866+169G>A
c.1866+169G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 551703
chr17:551740 C
C
 T
T
 1 a0001c0002t0100g0223
a0001c0002t0100g0223
 1 NA18944.hp2
NA18944.hp2
 intron_variant MODIFIER c.1866+132G>A
c.1866+132G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 551740
chr17:551745 C
C
 A
A
 8 a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0087g0198
others(5): Show 
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0087g0198
a0001c0001t0097g0199
a0001c0001t0105g0201
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0127g0159
 8 HG01109.hp2
HG01891.hp1
HG02818.hp1
others(5): Show 
HG01109.hp2
HG01891.hp1
HG02818.hp1
HG02886.hp2
HG02895.hp2
HG02922.hp2
HG03225.hp1
NA20129.hp1
 intron_variant MODIFIER c.1866+127G>T
c.1866+127G>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 17/21 chr17 551745
chr17:551992 C
C
 T
T
 16 a0001c0002t0001g0094
a0001c0002t0043g0064
a0001c0002t0065g0093
others(13): Show 
a0001c0002t0001g0094
a0001c0002t0043g0064
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0011t0051g0091
a0003c0004t0047g0017
 16 HG01074.hp2
HG02135.hp2
HG02602.hp1
others(13): Show 
HG01074.hp2
HG02135.hp2
HG02602.hp1
NA18747.hp1
NA18747.hp2
NA18944.hp1
NA18955.hp2
NA18960.hp2
NA18984.hp2
NA18994.hp1
NA18994.hp2
NA19000.hp2
NA19010.hp2
NA19064.hp2
NA19087.hp1
NA19091.hp1
 intron_variant MODIFIER c.1788-42G>A
c.1788-42G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 16/21 chr17 551992
chr17:552143 C
C
 G
G
 48 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(45): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0034g0126
a0001c0001t0069g0012
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0110g0127
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0002t0013g0083
a0001c0002t0079g0086
a0001c0002t0100g0223
a0001c0006t0001g0113
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0110
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0002c0003t0009g0186
a0002c0003t0009g0218
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0010t0038g0156
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
a0006c0012t0129g0140
 48 HG00741.hp2
HG01081.hp2
HG01106.hp1
others(45): Show 
HG00741.hp2
HG01081.hp2
HG01106.hp1
HG01175.hp2
HG01192.hp2
HG01255.hp2
HG01256.hp2
HG01361.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp2
HG01928.hp2
HG02040.hp1
HG02040.hp2
HG02056.hp1
HG02083.hp2
HG02109.hp2
HG02129.hp2
HG02132.hp2
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02602.hp2
HG03492.hp2
HG03688.hp1
HG03688.hp2
HG04184.hp2
HG04199.hp2
NA18940.hp2
NA18944.hp2
NA18945.hp2
NA18946.hp1
NA18955.hp1
NA18967.hp2
NA18978.hp2
NA18983.hp2
NA18987.hp2
NA19000.hp1
NA19009.hp2
NA19065.hp2
NA19066.hp2
NA19068.hp2
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp2
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.1788-193G>C
c.1788-193G>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 16/21 chr17 552143
chr17:552211 C
C
 A
A
 147 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(144): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0017g0158
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0032g0204
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0034g0126
a0001c0001t0034g0162
a0001c0001t0084g0046
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0094g0129
a0001c0001t0097g0199
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0105g0201
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0110g0127
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0122g0160
a0001c0001t0127g0159
a0001c0001t0128g0132
a0001c0001t0134g0154
a0001c0001t0138g0161
a0001c0001t0141g0165
a0001c0002t0005g0065
a0001c0002t0022g0085
a0001c0002t0049g0048
a0001c0002t0086g0221
a0001c0002t0100g0223
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0001c0015t0126g0149
a0001c0016t0052g0099
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0018g0231
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0085g0184
a0002c0003t0089g0175
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0099g0192
a0002c0003t0104g0208
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0146g0170
a0002c0003t0148g0174
a0002c0003t0150g0191
a0002c0010t0038g0156
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
a0004c0008t0036g0207
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
a0006c0012t0129g0140
a0007c0013t0132g0163
 147 HG00099.hp2
HG00280.hp2
HG00323.hp2
others(144): Show 
HG00099.hp2
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp2
HG00621.hp1
HG00741.hp1
HG00741.hp2
HG01070.hp2
HG01071.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp2
HG01361.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02056.hp1
HG02056.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02145.hp1
HG02145.hp2
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02572.hp2
HG02602.hp2
HG02622.hp2
HG02723.hp1
HG02738.hp2
HG02818.hp1
HG02886.hp2
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG04184.hp2
HG04204.hp1
NA18612.hp1
NA18612.hp2
NA18906.hp1
NA18940.hp1
NA18940.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18955.hp1
NA18957.hp1
NA18959.hp1
NA18961.hp1
NA18961.hp2
NA18967.hp2
NA18977.hp1
NA18978.hp1
NA18978.hp2
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18990.hp1
NA19000.hp1
NA19009.hp2
NA19010.hp1
NA19011.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19065.hp2
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19084.hp2
NA19087.hp2
NA19090.hp2
NA19091.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20805.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.1788-261G>T
c.1788-261G>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 16/21 chr17 552211
chr17:552293 A
A
 AGAGAATT
others(36): Show 
AGAGAATTTTGATTCTTCGTCAATAAGTGGTTGATGTGAAAGCT
 86 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(83): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0151
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0033g0206
a0001c0001t0034g0126
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0096g0146
a0001c0001t0097g0199
a0001c0001t0105g0201
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0110g0127
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0118g0195
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0127g0159
a0001c0001t0128g0132
a0001c0001t0134g0154
a0001c0002t0025g0075
a0001c0002t0049g0048
a0001c0002t0078g0041
a0001c0002t0100g0223
a0001c0002t0109g0222
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0006t0053g0102
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0001c0014t0135g0166
a0001c0015t0126g0149
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0085g0184
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0099g0192
a0002c0003t0104g0208
a0002c0003t0150g0191
a0002c0010t0038g0156
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
a0006c0012t0129g0140
 86 HG00099.hp1
HG00099.hp2
HG00438.hp2
others(83): Show 
HG00099.hp1
HG00099.hp2
HG00438.hp2
HG00741.hp2
HG01081.hp2
HG01099.hp1
HG01109.hp2
HG01167.hp1
HG01175.hp2
HG01192.hp2
HG01255.hp2
HG01256.hp2
HG01346.hp2
HG01361.hp2
HG01496.hp2
HG01515.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG02040.hp1
HG02040.hp2
HG02056.hp1
HG02056.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02145.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02572.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02723.hp1
HG02723.hp2
HG02818.hp1
HG02895.hp2
HG02922.hp2
HG03225.hp1
HG03225.hp2
HG03491.hp2
HG03492.hp2
HG03516.hp2
HG03688.hp2
HG04184.hp2
NA18612.hp1
NA18906.hp1
NA18944.hp2
NA18945.hp2
NA18946.hp1
NA18955.hp1
NA18967.hp2
NA18978.hp2
NA18983.hp2
NA18987.hp1
NA18987.hp2
NA19000.hp1
NA19009.hp2
NA19010.hp1
NA19065.hp2
NA19066.hp2
NA19068.hp2
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19080.hp2
NA19084.hp2
NA19087.hp1
NA19091.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.1788-386_1788-344d
others(45): Show 
c.1788-386_1788-344dupAGCTTTCACATCAACCACTTATTGACGA
AGAATCAAAATTCTC
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 16/21 chr17 552293
chr17:552293 A
A
 AGAGAATT
others(79): Show 
AGAGAATTTTGATTCTTCGTCAATAAGTGGTTGATGTGAAAGCTGAGAAT
TTTGATTCTTCGTCAATAAGTGGTTGATGTGAAAGCT
 35 a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
others(32): Show 
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0125
a0001c0001t0029g0150
a0001c0001t0094g0129
a0001c0001t0121g0143
a0001c0002t0005g0065
a0001c0002t0022g0085
a0001c0002t0086g0221
a0001c0005t0042g0044
a0001c0006t0068g0098
a0001c0006t0074g0097
a0002c0003t0145g0187
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0007c0013t0132g0163
 35 HG00423.hp2
HG01099.hp2
HG02074.hp1
others(32): Show 
HG00423.hp2
HG01099.hp2
HG02074.hp1
HG02132.hp2
HG02145.hp1
HG03139.hp2
HG03831.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
NA18612.hp2
NA18940.hp1
NA18945.hp1
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18957.hp1
NA18959.hp1
NA18961.hp1
NA18961.hp2
NA18977.hp1
NA18978.hp1
NA18984.hp1
NA18986.hp2
NA18990.hp1
NA19000.hp2
NA19011.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19068.hp1
NA19080.hp1
NA19081.hp1
NA19091.hp2
 intron_variant MODIFIER c.1788-429_1788-344d
others(88): Show 
c.1788-429_1788-344dupAGCTTTCACATCAACCACTTATTGACGA
AGAATCAAAATTCTCAGCTTTCACATCAACCACTTATTGACGAAGAATCA
AAATTCTC
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 16/21 chr17 552293
chr17:552293 A
A
 AGAGAATT
others(122): Show 
AGAGAATTTTGATTCTTCGTCAATAAGTGGTTGATGTGAAAGCTGAGAAT
TTTGATTCTTCGTCAATAAGTGGTTGATGTGAAAGCTGAGAATTTTGATT
CTTCGTCAATAAGTGGTTGATGTGAAAGCT
 11 a0001c0001t0017g0158
a0001c0001t0032g0114
a0001c0001t0034g0162
others(8): Show 
a0001c0001t0017g0158
a0001c0001t0032g0114
a0001c0001t0034g0162
a0001c0001t0095g0145
a0001c0001t0098g0147
a0001c0001t0122g0160
a0001c0001t0138g0161
a0001c0001t0141g0165
a0001c0002t0050g0049
a0001c0002t0055g0084
a0003c0004t0003g0018
 11 HG00741.hp1
HG01106.hp2
HG01109.hp1
others(8): Show 
HG00741.hp1
HG01106.hp2
HG01109.hp1
HG01257.hp1
HG01258.hp2
HG02280.hp1
HG02818.hp2
HG02895.hp1
NA18906.hp2
NA20300.hp2
NA20805.hp1
 intron_variant MODIFIER c.1788-472_1788-344d
others(131): Show 
c.1788-472_1788-344dupAGCTTTCACATCAACCACTTATTGACGA
AGAATCAAAATTCTCAGCTTTCACATCAACCACTTATTGACGAAGAATCA
AAATTCTCAGCTTTCACATCAACCACTTATTGACGAAGAATCAAAATTCT
C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 16/21 chr17 552293
chr17:552293 A
A
 AGAGAATT
others(165): Show 
AGAGAATTTTGATTCTTCGTCAATAAGTGGTTGATGTGAAAGCTGAGAAT
TTTGATTCTTCGTCAATAAGTGGTTGATGTGAAAGCTGAGAATTTTGATT
CTTCGTCAATAAGTGGTTGATGTGAAAGCTGAGAATTTTGATTCTTCGTC
AATAAGTGGTTGATGTGAAAGCT
 1 a0003c0004t0054g0032
a0003c0004t0054g0032
 1 NA19087.hp2
NA19087.hp2
 intron_variant MODIFIER c.1788-344_1788-343i
others(174): Show 
c.1788-344_1788-343insAGCTTTCACATCAACCACTTATTGACGA
AGAATCAAAATTCTCAGCTTTCACATCAACCACTTATTGACGAAGAATCA
AAATTCTCAGCTTTCACATCAACCACTTATTGACGAAGAATCAAAATTCT
CAGCTTTCACATCAACCACTTATTGACGAAGAATCAAAATTCTC
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 16/21 chr17 552293
chr17:552293 AGAGAATT
others(36): Show 
AGAGAATTTTGATTCTTCGTCAATAAGTGGTTGATGTGAAAGCT
 A
A
 20 a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0084g0046
others(17): Show 
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0084g0046
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0002t0001g0066
a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0057g0103
a0001c0011t0051g0091
a0001c0016t0052g0099
a0002c0003t0036g0176
a0002c0003t0144g0215
 20 HG00280.hp2
HG00323.hp2
HG01074.hp2
others(17): Show 
HG00280.hp2
HG00323.hp2
HG01074.hp2
HG01168.hp2
HG01175.hp1
HG01515.hp2
HG01884.hp2
HG01981.hp2
HG02280.hp2
HG02572.hp2
HG02738.hp2
HG03139.hp1
HG03491.hp1
HG03492.hp1
HG03516.hp1
HG03688.hp1
HG04204.hp2
NA18747.hp2
NA18984.hp2
NA19064.hp2
 intron_variant MODIFIER c.1788-386_1788-344d
others(45): Show 
c.1788-386_1788-344delAGCTTTCACATCAACCACTTATTGACGA
AGAATCAAAATTCTC
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 16/21 chr17 552293
chr17:552366 T
T
 C
C
 1 a0001c0001t0032g0204
a0001c0001t0032g0204
 1 HG02922.hp1
HG02922.hp1
 intron_variant MODIFIER c.1788-416A>G
c.1788-416A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 16/21 chr17 552366
chr17:552398 T
T
 TCAATAAG
others(79): Show 
TCAATAAGTGGTTGATGTGAAAGCTGAGAATTTTGATTCTTCGTCAATAA
GTGGTTGATGTGAAAGCTGAGAATTTTGATTCTTCGC
 1 a0003c0004t0006g0016
a0003c0004t0006g0016
 1 NA18962.hp1
NA18962.hp1
 intron_variant MODIFIER c.1788-449_1788-448i
others(88): Show 
c.1788-449_1788-448insGCGAAGAATCAAAATTCTCAGCTTTCAC
ATCAACCACTTATTGACGAAGAATCAAAATTCTCAGCTTTCACATCAACC
ACTTATTG
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 16/21 chr17 552398
chr17:552574 G
G
 A
A
 93 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(90): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0032g0114
a0001c0001t0069g0012
a0001c0001t0084g0046
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0098g0147
a0001c0001t0107g0212
a0001c0001t0108g0148
a0001c0001t0110g0127
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0123g0123
a0001c0001t0128g0132
a0001c0002t0001g0094
a0001c0002t0003g0072
a0001c0002t0005g0065
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0035g0219
a0001c0002t0038g0224
a0001c0002t0049g0048
a0001c0002t0050g0049
a0001c0002t0065g0093
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0077g0095
a0001c0002t0078g0041
a0001c0002t0079g0086
a0001c0002t0125g0116
a0001c0002t0143g0226
a0001c0002t0149g0202
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0011t0051g0091
a0001c0014t0135g0166
a0001c0016t0052g0099
a0002c0003t0009g0185
a0002c0003t0089g0175
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0043
a0003c0004t0047g0017
a0003c0004t0064g0042
a0003c0004t0081g0035
a0004c0008t0035g0203
a0004c0008t0103g0227
a0004c0008t0124g0229
a0004c0008t0133g0232
a0004c0008t0142g0228
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
a0006c0012t0129g0140
 93 HG00099.hp2
HG00140.hp1
HG00140.hp2
others(90): Show 
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp2
HG00423.hp2
HG00438.hp1
HG01074.hp2
HG01081.hp1
HG01106.hp1
HG01168.hp2
HG01175.hp1
HG01192.hp1
HG01255.hp2
HG01256.hp1
HG01257.hp2
HG01258.hp1
HG01346.hp1
HG01361.hp1
HG01361.hp2
HG01496.hp1
HG01515.hp1
HG01515.hp2
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01928.hp1
HG01981.hp2
HG02040.hp2
HG02056.hp2
HG02074.hp2
HG02083.hp2
HG02129.hp2
HG02132.hp2
HG02135.hp2
HG02145.hp2
HG02280.hp1
HG02572.hp1
HG02602.hp1
HG02602.hp2
HG02818.hp2
HG02895.hp1
HG03225.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03688.hp1
HG03942.hp2
HG04184.hp1
HG04184.hp2
NA18747.hp1
NA18747.hp2
NA18940.hp2
NA18945.hp2
NA18946.hp1
NA18948.hp2
NA18950.hp1
NA18955.hp1
NA18955.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18967.hp2
NA18973.hp2
NA18978.hp2
NA18983.hp2
NA18984.hp2
NA18987.hp2
NA18990.hp2
NA18994.hp1
NA18994.hp2
NA19000.hp2
NA19007.hp2
NA19009.hp2
NA19010.hp2
NA19011.hp1
NA19060.hp2
NA19064.hp2
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp2
NA19070.hp1
NA19074.hp2
NA19079.hp2
NA19081.hp2
NA19087.hp1
NA19091.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp2
 intron_variant MODIFIER c.1788-624C>T
c.1788-624C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 16/21 chr17 552574
chr17:552700 T
T
 C
C
 4 a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
others(1): Show 
a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0011t0051g0091
 4 HG01074.hp2
NA18747.hp2
NA18984.hp2
others(1): Show 
HG01074.hp2
NA18747.hp2
NA18984.hp2
NA19064.hp2
 intron_variant MODIFIER c.1787+680A>G
c.1787+680A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 16/21 chr17 552700
chr17:552868 CGCTGCTG
others(188): Show 
CGCTGCTGTGTAGTGGAGAAAGGGCAGGCAGCGAGCAAGTGTGTACAAGG
TATATACGTGCCGCACGCTGCTGTGTAGTGGAGAAAGGGCAGGCAGTGAG
CAAGCGTGTACAAGGTATATACGTGCCGCACGCTGCTGTGTAGTGGAGAA
AGGGCAGGCAGTGAGCAAGCGTGTACAAGGTATATACGTGCCACAT
 C
C
 1 a0001c0002t0017g0225
a0001c0002t0017g0225
 1 HG01516.hp1
HG01516.hp1
 intron_variant MODIFIER c.1787+317_1787+511d
others(2): Show 
c.1787+317_1787+511del
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 16/21 chr17 552868
chr17:552868 CGCTGCTG
others(253): Show 
CGCTGCTGTGTAGTGGAGAAAGGGCAGGCAGCGAGCAAGTGTGTACAAGG
TATATACGTGCCGCACGCTGCTGTGTAGTGGAGAAAGGGCAGGCAGTGAG
CAAGCGTGTACAAGGTATATACGTGCCGCACGCTGCTGTGTAGTGGAGAA
AGGGCAGGCAGTGAGCAAGCGTGTACAAGGTATATACGTGCCACATGCTG
CTGTGTAGTGGAGAAAGGGCAGGCAGCGAGCAAGTGTGTACAAGGTATAT
ACGTGCCACAT
 C
C
 2 a0001c0001t0087g0198
a0001c0001t0105g0201
a0001c0001t0087g0198
a0001c0001t0105g0201
 2 HG01109.hp2
HG02818.hp1
HG01109.hp2
HG02818.hp1
 intron_variant MODIFIER c.1787+252_1787+511d
others(2): Show 
c.1787+252_1787+511del
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 16/21 chr17 552868
chr17:552889 GGGCAGGC
others(187): Show 
GGGCAGGCAGCGAGCAAGTGTGTACAAGGTATATACGTGCCGCACGCTGC
TGTGTAGTGGAGAAAGGGCAGGCAGTGAGCAAGCGTGTACAAGGTATATA
CGTGCCGCACGCTGCTGTGTAGTGGAGAAAGGGCAGGCAGTGAGCAAGCG
TGTACAAGGTATATACGTGCCACATGCTGCTGTGTAGTGGAGAAA
 G
G
 1 a0006c0012t0129g0140
a0006c0012t0129g0140
 1 NA18978.hp2
NA18978.hp2
 intron_variant MODIFIER c.1787+297_1787+490d
others(2): Show 
c.1787+297_1787+490del
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 16/21 chr17 552889
chr17:552907 TGTGTACA
others(253): Show 
TGTGTACAAGGTATATACGTGCCGCACGCTGCTGTGTAGTGGAGAAAGGG
CAGGCAGTGAGCAAGCGTGTACAAGGTATATACGTGCCGCACGCTGCTGT
GTAGTGGAGAAAGGGCAGGCAGTGAGCAAGCGTGTACAAGGTATATACGT
GCCACATGCTGCTGTGTAGTGGAGAAAGGGCAGGCAGCGAGCAAGTGTGT
ACAAGGTATATACGTGCCACATGCTGCTGTGTAGTGGAGAAAGGGCAGGC
AGTGAGCAAGC
 T
T
 167 a0001c0001t0017g0158
a0001c0001t0028g0196
a0001c0001t0028g0197
others(164): Show 
a0001c0001t0017g0158
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0032g0114
a0001c0001t0032g0204
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0034g0162
a0001c0001t0088g0152
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0097g0199
a0001c0001t0098g0147
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0106g0117
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0113g0122
a0001c0001t0118g0195
a0001c0001t0122g0160
a0001c0001t0123g0123
a0001c0001t0127g0159
a0001c0001t0134g0154
a0001c0001t0138g0161
a0001c0001t0141g0165
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0001g0094
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0035g0219
a0001c0002t0038g0224
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0049g0048
a0001c0002t0050g0049
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0065g0093
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0077g0095
a0001c0002t0078g0041
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0002t0086g0221
a0001c0002t0100g0223
a0001c0002t0109g0222
a0001c0002t0125g0116
a0001c0002t0143g0226
a0001c0002t0149g0202
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0011t0051g0091
a0001c0014t0135g0166
a0001c0015t0126g0149
a0001c0016t0052g0099
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0018g0231
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0073g0068
a0002c0003t0085g0184
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0099g0192
a0002c0003t0104g0208
a0002c0003t0145g0187
a0002c0003t0150g0191
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
a0004c0008t0035g0203
a0004c0008t0103g0227
a0004c0008t0124g0229
a0004c0008t0133g0232
a0004c0008t0142g0228
a0007c0013t0132g0163
 167 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(164): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00438.hp1
HG00438.hp2
HG00621.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01099.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01255.hp1
HG01256.hp1
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01496.hp1
HG01515.hp2
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01978.hp1
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02056.hp1
HG02074.hp1
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02300.hp1
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02622.hp1
HG02622.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03516.hp2
HG03688.hp1
HG03831.hp2
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04199.hp1
HG04204.hp1
HG04204.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp2
NA18955.hp2
NA18957.hp1
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18967.hp1
NA18973.hp1
NA18973.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18979.hp1
NA18984.hp1
NA18984.hp2
NA18986.hp2
NA18987.hp1
NA18990.hp1
NA18990.hp2
NA18994.hp1
NA18994.hp2
NA19000.hp1
NA19000.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19060.hp1
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19074.hp1
NA19079.hp1
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19087.hp2
NA19090.hp1
NA19091.hp1
NA19091.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1787+213_1787+472d
others(2): Show 
c.1787+213_1787+472del
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 16/21 chr17 552907
chr17:552933 CGCTGCTG
others(188): Show 
CGCTGCTGTGTAGTGGAGAAAGGGCAGGCAGTGAGCAAGCGTGTACAAGG
TATATACGTGCCGCACGCTGCTGTGTAGTGGAGAAAGGGCAGGCAGTGAG
CAAGCGTGTACAAGGTATATACGTGCCACATGCTGCTGTGTAGTGGAGAA
AGGGCAGGCAGCGAGCAAGTGTGTACAAGGTATATACGTGCCACAT
 C
C
 60 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(57): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0034g0126
a0001c0001t0069g0012
a0001c0001t0084g0046
a0001c0001t0094g0129
a0001c0001t0107g0212
a0001c0001t0108g0148
a0001c0001t0110g0127
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0128g0132
a0001c0006t0074g0097
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0002c0003t0017g0179
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0089g0175
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0146g0170
a0002c0003t0148g0174
a0002c0010t0038g0156
a0004c0008t0036g0207
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
 60 HG00323.hp2
HG00423.hp1
HG00423.hp2
others(57): Show 
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00621.hp1
HG01070.hp2
HG01071.hp1
HG01081.hp2
HG01099.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp2
HG01361.hp2
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01928.hp2
HG01978.hp2
HG02040.hp2
HG02056.hp2
HG02074.hp2
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02293.hp2
HG02300.hp2
HG02602.hp2
HG02738.hp2
HG03492.hp2
HG03516.hp1
HG03688.hp2
HG03831.hp1
HG04184.hp2
HG04199.hp2
NA18940.hp2
NA18945.hp2
NA18946.hp1
NA18950.hp1
NA18955.hp1
NA18957.hp2
NA18961.hp1
NA18967.hp2
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18986.hp1
NA18987.hp2
NA19009.hp2
NA19060.hp2
NA19065.hp2
NA19066.hp2
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19079.hp2
NA19090.hp2
NA21309.hp1
 intron_variant MODIFIER c.1787+252_1787+446d
others(2): Show 
c.1787+252_1787+446del
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 16/21 chr17 552933
chr17:553125 A
A
 G
G
 1 a0006c0012t0129g0140
a0006c0012t0129g0140
 1 NA18978.hp2
NA18978.hp2
 intron_variant MODIFIER c.1787+255T>C
c.1787+255T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 16/21 chr17 553125
chr17:553128 T
T
 C
C
 1 a0006c0012t0129g0140
a0006c0012t0129g0140
 1 NA18978.hp2
NA18978.hp2
 intron_variant MODIFIER c.1787+252A>G
c.1787+252A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 16/21 chr17 553128
chr17:553159 T
T
 C
C
 61 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(58): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0034g0126
a0001c0001t0069g0012
a0001c0001t0084g0046
a0001c0001t0094g0129
a0001c0001t0107g0212
a0001c0001t0108g0148
a0001c0001t0110g0127
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0128g0132
a0001c0006t0074g0097
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0002c0003t0017g0179
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0089g0175
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0146g0170
a0002c0003t0148g0174
a0002c0010t0038g0156
a0004c0008t0036g0207
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
a0006c0012t0129g0140
 61 HG00323.hp2
HG00423.hp1
HG00423.hp2
others(58): Show 
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00621.hp1
HG01070.hp2
HG01071.hp1
HG01081.hp2
HG01099.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp2
HG01361.hp2
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01928.hp2
HG01978.hp2
HG02040.hp2
HG02056.hp2
HG02074.hp2
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02293.hp2
HG02300.hp2
HG02602.hp2
HG02738.hp2
HG03492.hp2
HG03516.hp1
HG03688.hp2
HG03831.hp1
HG04184.hp2
HG04199.hp2
NA18940.hp2
NA18945.hp2
NA18946.hp1
NA18950.hp1
NA18955.hp1
NA18957.hp2
NA18961.hp1
NA18967.hp2
NA18978.hp2
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18986.hp1
NA18987.hp2
NA19009.hp2
NA19060.hp2
NA19065.hp2
NA19066.hp2
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19079.hp2
NA19090.hp2
NA21309.hp1
 intron_variant MODIFIER c.1787+221A>G
c.1787+221A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 16/21 chr17 553159
chr17:553167 C
C
 T
T
 63 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(60): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0034g0126
a0001c0001t0069g0012
a0001c0001t0084g0046
a0001c0001t0087g0198
a0001c0001t0094g0129
a0001c0001t0105g0201
a0001c0001t0107g0212
a0001c0001t0108g0148
a0001c0001t0110g0127
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0128g0132
a0001c0006t0074g0097
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0002c0003t0017g0179
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0089g0175
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0146g0170
a0002c0003t0148g0174
a0002c0010t0038g0156
a0004c0008t0036g0207
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
a0006c0012t0129g0140
 63 HG00323.hp2
HG00423.hp1
HG00423.hp2
others(60): Show 
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00621.hp1
HG01070.hp2
HG01071.hp1
HG01081.hp2
HG01099.hp2
HG01109.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp2
HG01361.hp2
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01928.hp2
HG01978.hp2
HG02040.hp2
HG02056.hp2
HG02074.hp2
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02293.hp2
HG02300.hp2
HG02602.hp2
HG02738.hp2
HG02818.hp1
HG03492.hp2
HG03516.hp1
HG03688.hp2
HG03831.hp1
HG04184.hp2
HG04199.hp2
NA18940.hp2
NA18945.hp2
NA18946.hp1
NA18950.hp1
NA18955.hp1
NA18957.hp2
NA18961.hp1
NA18967.hp2
NA18978.hp2
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18986.hp1
NA18987.hp2
NA19009.hp2
NA19060.hp2
NA19065.hp2
NA19066.hp2
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19079.hp2
NA19090.hp2
NA21309.hp1
 intron_variant MODIFIER c.1787+213G>A
c.1787+213G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 16/21 chr17 553167
chr17:553169 T
T
 C
C
 1 a0002c0003t0037g0115
a0002c0003t0037g0115
 1 NA18986.hp1
NA18986.hp1
 intron_variant MODIFIER c.1787+211A>G
c.1787+211A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 16/21 chr17 553169
chr17:553188 C
C
 A
A
 1 a0001c0001t0107g0212
a0001c0001t0107g0212
 1 HG01255.hp2
HG01255.hp2
 intron_variant MODIFIER c.1787+192G>T
c.1787+192G>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 16/21 chr17 553188
chr17:553224 T
T
 C
C
 28 a0001c0001t0017g0158
a0001c0001t0032g0204
a0001c0001t0034g0162
others(25): Show 
a0001c0001t0017g0158
a0001c0001t0032g0204
a0001c0001t0034g0162
a0001c0001t0096g0146
a0001c0001t0122g0160
a0001c0001t0138g0161
a0001c0001t0141g0165
a0001c0015t0126g0149
a0002c0003t0017g0179
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0089g0175
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0145g0187
a0002c0003t0146g0170
a0002c0003t0148g0174
a0004c0008t0036g0207
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
a0007c0013t0132g0163
 28 HG00323.hp2
HG00423.hp1
HG00621.hp1
others(25): Show 
HG00323.hp2
HG00423.hp1
HG00621.hp1
HG00741.hp1
HG01070.hp2
HG01071.hp1
HG01106.hp2
HG01109.hp1
HG01257.hp1
HG01258.hp2
HG02074.hp2
HG02129.hp1
HG02132.hp1
HG02723.hp1
HG02738.hp2
HG02922.hp1
HG03225.hp2
HG03831.hp1
HG04199.hp1
HG04204.hp1
NA18946.hp1
NA18955.hp1
NA18957.hp2
NA18979.hp2
NA18983.hp1
NA18986.hp1
NA19066.hp2
NA19090.hp2
 intron_variant MODIFIER c.1787+156A>G
c.1787+156A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 16/21 chr17 553224
chr17:553237 A
A
 G
G
 1 a0001c0001t0114g0142
a0001c0001t0114g0142
 1 HG02602.hp2
HG02602.hp2
 intron_variant MODIFIER c.1787+143T>C
c.1787+143T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 16/21 chr17 553237
chr17:553240 A
A
 G
G
 1 a0001c0001t0114g0142
a0001c0001t0114g0142
 1 HG02602.hp2
HG02602.hp2
 intron_variant MODIFIER c.1787+140T>C
c.1787+140T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 16/21 chr17 553240
chr17:553245 T
T
 C
C
 1 a0001c0001t0114g0142
a0001c0001t0114g0142
 1 HG02602.hp2
HG02602.hp2
 intron_variant MODIFIER c.1787+135A>G
c.1787+135A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 16/21 chr17 553245
chr17:553323 C
C
 T
T
 4 a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
others(1): Show 
a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0011t0051g0091
 4 HG01074.hp2
NA18747.hp2
NA18984.hp2
others(1): Show 
HG01074.hp2
NA18747.hp2
NA18984.hp2
NA19064.hp2
 intron_variant MODIFIER c.1787+57G>A
c.1787+57G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 16/21 chr17 553323
chr17:553336 T
T
 G
G
 8 a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
others(5): Show 
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0104g0208
a0002c0003t0150g0191
 8 HG01099.hp1
HG01981.hp1
HG02083.hp1
others(5): Show 
HG01099.hp1
HG01981.hp1
HG02083.hp1
HG02293.hp1
HG02300.hp1
NA18612.hp1
NA18987.hp1
NA19010.hp1
 intron_variant MODIFIER c.1787+44A>C
c.1787+44A>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 16/21 chr17 553336
chr17:553574 CT
CT
 C
C
 127 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(124): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0032g0114
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0069g0012
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0097g0199
a0001c0001t0098g0147
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0105g0201
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0108g0148
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0118g0195
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0127g0159
a0001c0001t0128g0132
a0001c0001t0134g0154
a0001c0002t0001g0094
a0001c0002t0024g0073
a0001c0002t0049g0048
a0001c0002t0050g0049
a0001c0002t0055g0084
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0002t0078g0041
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0080g0092
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0001c0011t0051g0091
a0001c0014t0135g0166
a0001c0016t0052g0099
a0002c0003t0093g0173
a0002c0003t0136g0216
a0002c0010t0038g0156
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
a0004c0008t0103g0227
a0004c0008t0133g0232
a0006c0012t0129g0140
 127 HG00099.hp2
HG00280.hp2
HG00423.hp2
others(124): Show 
HG00099.hp2
HG00280.hp2
HG00423.hp2
HG00741.hp2
HG01074.hp2
HG01081.hp2
HG01099.hp2
HG01109.hp2
HG01167.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01257.hp2
HG01346.hp2
HG01361.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp2
HG01978.hp2
HG01981.hp2
HG02040.hp2
HG02056.hp2
HG02074.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02132.hp2
HG02145.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02723.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03516.hp2
HG03688.hp1
HG03831.hp1
HG03831.hp2
HG04184.hp2
HG04199.hp2
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp2
NA18945.hp1
NA18945.hp2
NA18948.hp1
NA18950.hp1
NA18950.hp2
NA18955.hp2
NA18957.hp1
NA18959.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18967.hp2
NA18973.hp2
NA18977.hp1
NA18978.hp2
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18986.hp2
NA18987.hp2
NA18990.hp1
NA18994.hp1
NA19000.hp2
NA19009.hp2
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19079.hp2
NA19080.hp1
NA19081.hp1
NA19087.hp1
NA19087.hp2
NA19091.hp1
NA19091.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.1705-113delA
c.1705-113delA
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 15/21 chr17 553574
chr17:553756 G
G
 A
A
 1 a0001c0002t0049g0048
a0001c0002t0049g0048
 1 HG02145.hp2
HG02145.hp2
 intron_variant MODIFIER c.1705-294C>T
c.1705-294C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 15/21 chr17 553756
chr17:553784 G
G
 A
A
 7 a0001c0001t0032g0114
a0001c0001t0095g0145
a0001c0001t0096g0146
others(4): Show 
a0001c0001t0032g0114
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0098g0147
a0001c0001t0118g0195
a0001c0002t0050g0049
a0001c0002t0055g0084
 7 HG01346.hp2
HG02280.hp1
HG02818.hp2
others(4): Show 
HG01346.hp2
HG02280.hp1
HG02818.hp2
HG02895.hp1
HG03225.hp2
NA18906.hp2
NA20300.hp2
 intron_variant MODIFIER c.1705-322C>T
c.1705-322C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 15/21 chr17 553784
chr17:554021 G
G
 C
C
 2 a0003c0004t0005g0027
a0003c0004t0005g0030
a0003c0004t0005g0027
a0003c0004t0005g0030
 2 NA19060.hp1
NA19081.hp1
NA19060.hp1
NA19081.hp1
 intron_variant MODIFIER c.1705-559C>G
c.1705-559C>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 15/21 chr17 554021
chr17:554137 T
T
 C
C
 1 a0001c0002t0109g0222
a0001c0002t0109g0222
 1 HG00099.hp1
HG00099.hp1
 intron_variant MODIFIER c.1705-675A>G
c.1705-675A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 15/21 chr17 554137
chr17:554182 C
C
 T
T
 20 a0003c0004t0004g0014
a0003c0004t0004g0021
a0003c0004t0004g0025
others(17): Show 
a0003c0004t0004g0014
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
 20 HG03831.hp2
NA18612.hp2
NA18950.hp2
others(17): Show 
HG03831.hp2
NA18612.hp2
NA18950.hp2
NA18957.hp1
NA18959.hp1
NA18961.hp2
NA18962.hp1
NA18977.hp1
NA18978.hp1
NA18984.hp1
NA18986.hp2
NA18990.hp1
NA19011.hp2
NA19060.hp1
NA19064.hp1
NA19068.hp1
NA19080.hp1
NA19081.hp1
NA19087.hp2
NA19091.hp2
 intron_variant MODIFIER c.1705-720G>A
c.1705-720G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 15/21 chr17 554182
chr17:554183 G
G
 A
A
 1 a0001c0001t0119g0144
a0001c0001t0119g0144
 1 NA18987.hp2
NA18987.hp2
 intron_variant MODIFIER c.1705-721C>T
c.1705-721C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 15/21 chr17 554183
chr17:554284 C
C
 T
T
 185 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(182): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0017g0158
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0032g0114
a0001c0001t0032g0204
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0034g0126
a0001c0001t0034g0162
a0001c0001t0069g0012
a0001c0001t0084g0046
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0097g0199
a0001c0001t0098g0147
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0105g0201
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0108g0148
a0001c0001t0110g0127
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0118g0195
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0122g0160
a0001c0001t0127g0159
a0001c0001t0128g0132
a0001c0001t0134g0154
a0001c0001t0138g0161
a0001c0001t0141g0165
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0001g0094
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0022g0085
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0049g0048
a0001c0002t0050g0049
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0065g0093
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0077g0095
a0001c0002t0078g0041
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0002t0086g0221
a0001c0002t0149g0202
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0001c0011t0051g0091
a0001c0014t0135g0166
a0001c0015t0126g0149
a0001c0016t0052g0099
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0017g0179
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0018g0231
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0073g0068
a0002c0003t0085g0184
a0002c0003t0089g0175
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0099g0192
a0002c0003t0139g0167
a0002c0003t0145g0187
a0002c0003t0146g0170
a0002c0003t0148g0174
a0002c0010t0038g0156
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0004c0008t0036g0207
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
a0006c0012t0129g0140
a0007c0013t0132g0163
 185 HG00099.hp2
HG00140.hp2
HG00280.hp1
others(182): Show 
HG00099.hp2
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00423.hp1
HG00423.hp2
HG00438.hp2
HG00621.hp1
HG00621.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp2
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp1
HG01258.hp2
HG01346.hp2
HG01361.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01978.hp1
HG01978.hp2
HG02040.hp1
HG02040.hp2
HG02056.hp1
HG02056.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02280.hp1
HG02293.hp2
HG02300.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp2
HG03942.hp1
HG03942.hp2
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18944.hp1
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18955.hp1
NA18955.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18967.hp1
NA18967.hp2
NA18973.hp1
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp2
NA18990.hp1
NA18994.hp1
NA18994.hp2
NA19000.hp1
NA19000.hp2
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19011.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19087.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1705-822G>A
c.1705-822G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 15/21 chr17 554284
chr17:554311 G
G
 A
A
 1 a0001c0001t0127g0159
a0001c0001t0127g0159
 1 HG01891.hp1
HG01891.hp1
 intron_variant MODIFIER c.1705-849C>T
c.1705-849C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 15/21 chr17 554311
chr17:554319 G
G
 T
T
 6 a0001c0005t0010g0008
a0001c0005t0044g0096
a0001c0005t0045g0009
others(3): Show 
a0001c0005t0010g0008
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0080g0092
a0003c0004t0004g0021
a0003c0004t0004g0026
 6 HG02135.hp2
NA18747.hp1
NA18955.hp2
others(3): Show 
HG02135.hp2
NA18747.hp1
NA18955.hp2
NA18960.hp2
NA18990.hp1
NA19011.hp2
 intron_variant MODIFIER c.1705-857C>A
c.1705-857C>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 15/21 chr17 554319
chr17:554467 G
G
 A
A
 2 a0004c0008t0103g0227
a0004c0008t0133g0232
a0004c0008t0103g0227
a0004c0008t0133g0232
 2 NA18973.hp2
NA19011.hp1
NA18973.hp2
NA19011.hp1
 intron_variant MODIFIER c.1705-1005C>T
c.1705-1005C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 15/21 chr17 554467
chr17:554549 G
G
 A
A
 1 a0001c0005t0042g0044
a0001c0005t0042g0044
 1 NA19000.hp2
NA19000.hp2
 intron_variant MODIFIER c.1705-1087C>T
c.1705-1087C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 15/21 chr17 554549
chr17:554552 C
C
 A
A
 1 a0002c0010t0038g0156
a0002c0010t0038g0156
 1 NA21309.hp1
NA21309.hp1
 intron_variant MODIFIER c.1705-1090G>T
c.1705-1090G>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 15/21 chr17 554552
chr17:554564 C
C
 T
T
 39 a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
others(36): Show 
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0035g0219
a0001c0002t0048g0089
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0002c0003t0073g0068
 39 HG00438.hp1
HG00621.hp2
HG01070.hp1
others(36): Show 
HG00438.hp1
HG00621.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01106.hp1
HG01167.hp2
HG01168.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01361.hp1
HG01496.hp1
HG01978.hp1
HG02135.hp1
HG02738.hp1
HG02886.hp1
HG04204.hp2
NA18906.hp2
NA18940.hp1
NA18946.hp2
NA18948.hp2
NA18959.hp2
NA18960.hp1
NA18962.hp2
NA18967.hp1
NA18973.hp1
NA18977.hp2
NA18979.hp1
NA19007.hp1
NA19009.hp1
NA19065.hp1
NA19070.hp1
NA19079.hp1
NA19084.hp1
NA19090.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1705-1102G>A
c.1705-1102G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 15/21 chr17 554564
chr17:554655 C
C
 T
T
 1 a0002c0010t0038g0156
a0002c0010t0038g0156
 1 NA21309.hp1
NA21309.hp1
 intron_variant MODIFIER c.1705-1193G>A
c.1705-1193G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 15/21 chr17 554655
chr17:554656 G
G
 A
A
 1 a0001c0002t0001g0082
a0001c0002t0001g0082
 1 HG02886.hp1
HG02886.hp1
 intron_variant MODIFIER c.1705-1194C>T
c.1705-1194C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 15/21 chr17 554656
chr17:554724 G
G
 C
C
 1 a0006c0012t0129g0140
a0006c0012t0129g0140
 1 NA18978.hp2
NA18978.hp2
 intron_variant MODIFIER c.1705-1262C>G
c.1705-1262C>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 15/21 chr17 554724
chr17:554731 C
C
 A
A
 1 a0001c0001t0106g0117
a0001c0001t0106g0117
 1 HG02109.hp2
HG02109.hp2
 intron_variant MODIFIER c.1705-1269G>T
c.1705-1269G>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 15/21 chr17 554731
chr17:555044 C
C
 G
G
 1 a0001c0006t0041g0001
a0001c0006t0041g0001
 1 HG01175.hp1
HG01175.hp1
 intron_variant MODIFIER c.1705-1582G>C
c.1705-1582G>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 15/21 chr17 555044
chr17:555107 C
C
 T
T
 1 a0002c0003t0093g0173
a0002c0003t0093g0173
 1 HG01167.hp1
HG01167.hp1
 intron_variant MODIFIER c.1705-1645G>A
c.1705-1645G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 15/21 chr17 555107
chr17:555409 T
T
 G
G
 39 a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0079
others(36): Show 
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0058g0052
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0002c0003t0073g0068
 39 HG00140.hp2
HG00280.hp1
HG00323.hp1
others(36): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp1
HG00621.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01106.hp1
HG01167.hp2
HG01168.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01361.hp1
HG01496.hp1
HG01978.hp1
HG02738.hp1
HG02886.hp1
NA18940.hp1
NA18944.hp1
NA18946.hp2
NA18948.hp2
NA18959.hp2
NA18960.hp1
NA18962.hp2
NA18967.hp1
NA18973.hp1
NA18977.hp2
NA18979.hp1
NA19007.hp1
NA19009.hp1
NA19065.hp1
NA19070.hp1
NA19079.hp1
NA19084.hp1
NA19090.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1705-1947A>C
c.1705-1947A>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 15/21 chr17 555409
chr17:555515 G
G
 A
A
 16 a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
others(13): Show 
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0188
a0002c0003t0018g0231
a0002c0003t0085g0184
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0099g0192
a0002c0003t0104g0208
a0002c0003t0145g0187
a0002c0003t0150g0191
 16 HG00438.hp2
HG01099.hp1
HG01167.hp1
others(13): Show 
HG00438.hp2
HG01099.hp1
HG01167.hp1
HG01928.hp1
HG01981.hp1
HG02083.hp1
HG02293.hp1
HG02300.hp1
HG03491.hp2
HG03942.hp1
HG04199.hp1
NA18612.hp1
NA18987.hp1
NA19010.hp1
NA19080.hp2
NA19084.hp2
 intron_variant MODIFIER c.1705-2053C>T
c.1705-2053C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 15/21 chr17 555515
chr17:555558 C
C
 A
A
 1 a0001c0001t0096g0146
a0001c0001t0096g0146
 1 HG03225.hp2
HG03225.hp2
 intron_variant MODIFIER c.1705-2096G>T
c.1705-2096G>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 15/21 chr17 555558
chr17:555609 A
A
 G
G
 1 a0001c0001t0032g0204
a0001c0001t0032g0204
 1 HG02922.hp1
HG02922.hp1
 intron_variant MODIFIER c.1705-2147T>C
c.1705-2147T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 15/21 chr17 555609
chr17:555747 G
G
 A
A
 1 a0001c0015t0126g0149
a0001c0015t0126g0149
 1 HG02723.hp1
HG02723.hp1
 intron_variant MODIFIER c.1705-2285C>T
c.1705-2285C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 15/21 chr17 555747
chr17:555846 G
G
 C
C
 1 a0001c0002t0049g0048
a0001c0002t0049g0048
 1 HG02145.hp2
HG02145.hp2
 intron_variant MODIFIER c.1705-2384C>G
c.1705-2384C>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 15/21 chr17 555846
chr17:556031 T
T
 A
A
 199 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(196): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0017g0158
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0032g0114
a0001c0001t0032g0204
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0034g0126
a0001c0001t0034g0162
a0001c0001t0069g0012
a0001c0001t0084g0046
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0097g0199
a0001c0001t0098g0147
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0105g0201
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0108g0148
a0001c0001t0110g0127
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0118g0195
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0122g0160
a0001c0001t0127g0159
a0001c0001t0128g0132
a0001c0001t0134g0154
a0001c0001t0138g0161
a0001c0001t0141g0165
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0001g0094
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0049g0048
a0001c0002t0050g0049
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0065g0093
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0077g0095
a0001c0002t0078g0041
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0002t0086g0221
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0001c0011t0051g0091
a0001c0014t0135g0166
a0001c0015t0126g0149
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0017g0179
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0018g0231
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0073g0068
a0002c0003t0085g0184
a0002c0003t0089g0175
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0099g0192
a0002c0003t0104g0208
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0145g0187
a0002c0003t0146g0170
a0002c0003t0148g0174
a0002c0003t0150g0191
a0002c0010t0038g0156
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0004c0008t0036g0207
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
a0006c0012t0129g0140
a0007c0013t0132g0163
 199 HG00140.hp2
HG00280.hp1
HG00323.hp1
others(196): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp2
HG00621.hp1
HG00621.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp1
HG01258.hp2
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG02040.hp1
HG02040.hp2
HG02056.hp1
HG02056.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03491.hp2
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18944.hp1
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18955.hp1
NA18955.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18967.hp1
NA18967.hp2
NA18973.hp1
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18990.hp1
NA18994.hp1
NA18994.hp2
NA19000.hp1
NA19000.hp2
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19087.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1705-2569A>T
c.1705-2569A>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 15/21 chr17 556031
chr17:556094 C
C
 T
T
 210 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(207): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0017g0158
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0032g0114
a0001c0001t0032g0204
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0034g0126
a0001c0001t0034g0162
a0001c0001t0069g0012
a0001c0001t0084g0046
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0097g0199
a0001c0001t0098g0147
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0105g0201
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0108g0148
a0001c0001t0110g0127
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0118g0195
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0122g0160
a0001c0001t0127g0159
a0001c0001t0128g0132
a0001c0001t0134g0154
a0001c0001t0138g0161
a0001c0001t0141g0165
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0001g0094
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0049g0048
a0001c0002t0050g0049
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0065g0093
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0077g0095
a0001c0002t0078g0041
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0002t0086g0221
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0001c0011t0051g0091
a0001c0014t0135g0166
a0001c0015t0126g0149
a0001c0016t0052g0099
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0017g0179
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0018g0231
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0073g0068
a0002c0003t0085g0184
a0002c0003t0089g0175
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0099g0192
a0002c0003t0104g0208
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0145g0187
a0002c0003t0146g0170
a0002c0003t0148g0174
a0002c0003t0150g0191
a0002c0010t0038g0156
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0004c0008t0036g0207
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
a0006c0012t0129g0140
a0007c0013t0132g0163
 210 HG00099.hp2
HG00140.hp2
HG00280.hp1
others(207): Show 
HG00099.hp2
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp2
HG00621.hp1
HG00621.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp1
HG01258.hp2
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02056.hp1
HG02056.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18944.hp1
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18955.hp1
NA18955.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18967.hp1
NA18967.hp2
NA18973.hp1
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18990.hp1
NA18994.hp1
NA18994.hp2
NA19000.hp1
NA19000.hp2
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19087.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1705-2632G>A
c.1705-2632G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 15/21 chr17 556094
chr17:556459 T
T
 C
C
 10 a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
others(7): Show 
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
 10 HG02135.hp2
HG02602.hp1
NA18747.hp1
others(7): Show 
HG02135.hp2
HG02602.hp1
NA18747.hp1
NA18955.hp2
NA18960.hp2
NA18994.hp2
NA19000.hp2
NA19010.hp2
NA19087.hp1
NA19091.hp1
 intron_variant MODIFIER c.1705-2997A>G
c.1705-2997A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 15/21 chr17 556459
chr17:556527 C
C
 T
T
 3 a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0098g0147
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0098g0147
 3 HG02818.hp2
HG03225.hp2
NA20300.hp2
HG02818.hp2
HG03225.hp2
NA20300.hp2
 intron_variant MODIFIER c.1705-3065G>A
c.1705-3065G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 15/21 chr17 556527
chr17:556591 G
G
 C
C
 2 a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0031g0153
a0001c0001t0031g0155
 2 HG01891.hp2
NA20129.hp2
HG01891.hp2
NA20129.hp2
 intron_variant MODIFIER c.1705-3129C>G
c.1705-3129C>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 15/21 chr17 556591
chr17:556733 C
C
 T
T
 1 a0001c0014t0135g0166
a0001c0014t0135g0166
 1 HG02572.hp1
HG02572.hp1
 intron_variant MODIFIER c.1705-3271G>A
c.1705-3271G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 15/21 chr17 556733
chr17:556826 G
G
 A
A
 70 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(67): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0032g0114
a0001c0001t0032g0204
a0001c0001t0034g0126
a0001c0001t0069g0012
a0001c0001t0084g0046
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0098g0147
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0108g0148
a0001c0001t0110g0127
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0128g0132
a0001c0002t0049g0048
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0001c0015t0126g0149
a0002c0010t0038g0156
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0006c0012t0129g0140
 70 HG00423.hp2
HG00741.hp2
HG01081.hp2
others(67): Show 
HG00423.hp2
HG00741.hp2
HG01081.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp2
HG01361.hp2
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp2
HG01928.hp2
HG01978.hp2
HG02040.hp2
HG02056.hp2
HG02074.hp1
HG02083.hp2
HG02109.hp2
HG02129.hp2
HG02132.hp2
HG02145.hp2
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02602.hp2
HG02723.hp1
HG02818.hp2
HG02895.hp1
HG02922.hp1
HG03492.hp2
HG03516.hp1
HG03688.hp2
HG03831.hp2
HG04184.hp2
HG04199.hp2
NA18940.hp2
NA18945.hp1
NA18945.hp2
NA18950.hp1
NA18950.hp2
NA18957.hp1
NA18959.hp1
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18967.hp2
NA18977.hp1
NA18978.hp1
NA18978.hp2
NA18983.hp2
NA18984.hp1
NA18986.hp2
NA18987.hp2
NA19009.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19065.hp2
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19079.hp2
NA19080.hp1
NA19081.hp1
NA19087.hp2
NA19091.hp2
NA20300.hp2
NA21309.hp1
 intron_variant MODIFIER c.1705-3364C>T
c.1705-3364C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 15/21 chr17 556826
chr17:556879 A
A
 ACTGAAGG
others(24): Show 
ACTGAAGGGGGGTGGCCAGGAGGGCCTCTCTG
 65 a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
others(62): Show 
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0017g0158
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0034g0162
a0001c0001t0087g0198
a0001c0001t0106g0117
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0121g0143
a0001c0001t0123g0123
a0001c0001t0127g0159
a0001c0001t0141g0165
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0005g0061
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0058g0052
a0001c0002t0067g0076
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0082g0069
a0001c0002t0125g0116
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0068g0098
a0002c0003t0073g0068
a0002c0003t0136g0216
a0003c0004t0003g0015
a0003c0004t0003g0043
a0003c0004t0022g0004
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0060g0039
a0003c0004t0064g0042
a0004c0008t0035g0203
a0004c0008t0124g0229
a0004c0008t0142g0228
 65 HG00140.hp2
HG00280.hp1
HG00323.hp1
others(62): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp1
HG00741.hp1
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01106.hp2
HG01109.hp1
HG01167.hp2
HG01168.hp1
HG01256.hp1
HG01257.hp2
HG01258.hp1
HG01515.hp2
HG01516.hp2
HG01517.hp1
HG01891.hp1
HG01978.hp1
HG01981.hp2
HG02040.hp2
HG02083.hp2
HG02109.hp2
HG02129.hp2
HG02135.hp1
HG02738.hp1
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG03225.hp1
HG03491.hp1
HG03492.hp1
HG03831.hp1
HG03831.hp2
HG04184.hp1
HG04199.hp2
HG04204.hp2
NA18940.hp2
NA18944.hp1
NA18948.hp1
NA18959.hp2
NA18961.hp2
NA18962.hp2
NA18973.hp1
NA18977.hp2
NA18979.hp1
NA18990.hp2
NA18994.hp1
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19065.hp1
NA19066.hp1
NA19070.hp1
NA19074.hp2
NA19079.hp1
NA19080.hp1
NA19081.hp2
NA19084.hp1
NA19087.hp1
NA19087.hp2
NA19090.hp1
NA19091.hp1
NA20129.hp1
 intron_variant MODIFIER c.1705-3448_1705-341
others(35): Show 
c.1705-3448_1705-3418dupCAGAGAGGCCCTCCTGGCCACCCCCC
TTCAG
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 15/21 chr17 556879
chr17:556879 A
A
 ACTGAAGG
others(55): Show 
ACTGAAGGGGGGTGGCCAGGAGGGCCTCTCTGCTGAAGGGGGGTGGCCAG
GAGGGCCTCTCTG
 12 a0001c0001t0028g0197
a0001c0001t0084g0046
a0001c0001t0096g0146
others(9): Show 
a0001c0001t0028g0197
a0001c0001t0084g0046
a0001c0001t0096g0146
a0001c0001t0097g0199
a0001c0001t0098g0147
a0001c0001t0118g0195
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0014t0135g0166
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0040
 12 HG00099.hp2
HG00280.hp2
HG01346.hp2
others(9): Show 
HG00099.hp2
HG00280.hp2
HG01346.hp2
HG02074.hp1
HG02572.hp1
HG02622.hp1
HG02818.hp2
HG02922.hp2
HG03225.hp2
HG03516.hp1
NA18957.hp1
NA18984.hp1
 intron_variant MODIFIER c.1705-3418_1705-341
others(66): Show 
c.1705-3418_1705-3417insCAGAGAGGCCCTCCTGGCCACCCCCC
TTCAGCAGAGAGGCCCTCCTGGCCACCCCCCTTCAG
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 15/21 chr17 556879
chr17:556879 A
A
 ACTGAAGG
others(87): Show 
ACTGAAGGGGGGTGGCCAGGAGGGCCTCTCTGCTGAAGGGGGGTGGCCAG
GAGGGCCTCTCTGCTGAAGGGGGGTGGCCAAGGAGGGGCTCTCTG
 1 a0001c0001t0105g0201
a0001c0001t0105g0201
 1 HG01109.hp2
HG01109.hp2
 intron_variant MODIFIER c.1705-3418_1705-341
others(98): Show 
c.1705-3418_1705-3417insCAGAGAGCCCCTCCTTGGCCACCCCC
CTTCAGCAGAGAGGCCCTCCTGGCCACCCCCCTTCAGCAGAGAGGCCCTC
CTGGCCACCCCCCTTCAG
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 15/21 chr17 556879
chr17:556879 A
A
 ACTGAAGG
others(86): Show 
ACTGAAGGGGGGTGGCCAGGAGGGCCTCTCTGCTGAAGGGGGGTGGCCAG
GAGGGCCTCTCTGCTGAAGGGGGGTGGCCAGGAGGGCCTCTCTG
 6 a0001c0001t0028g0196
a0001c0001t0032g0204
a0001c0001t0128g0132
others(3): Show 
a0001c0001t0028g0196
a0001c0001t0032g0204
a0001c0001t0128g0132
a0001c0002t0066g0070
a0003c0004t0006g0024
a0003c0004t0006g0033
 6 HG02056.hp2
HG02723.hp2
HG02922.hp1
others(3): Show 
HG02056.hp2
HG02723.hp2
HG02922.hp1
NA18946.hp2
NA18950.hp2
NA18959.hp1
 intron_variant MODIFIER c.1705-3418_1705-341
others(97): Show 
c.1705-3418_1705-3417insCAGAGAGGCCCTCCTGGCCACCCCCC
TTCAGCAGAGAGGCCCTCCTGGCCACCCCCCTTCAGCAGAGAGGCCCTCC
TGGCCACCCCCCTTCAG
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 15/21 chr17 556879
chr17:556879 A
A
 ACTGAAGG
others(117): Show 
ACTGAAGGGGGGTGGCCAGGAGGGCCTCTCTGCTGAAGGGGGGTGGCCAG
GAGGGCCTCTCTGCTGAAGGGGGGTGGCCAGGAGGGCCTCTCTGCTGAAG
GGGGGTGGCCAGGAGGGCCTCTCTG
 4 a0001c0005t0019g0006
a0001c0005t0042g0044
a0001c0006t0001g0113
others(1): Show 
a0001c0005t0019g0006
a0001c0005t0042g0044
a0001c0006t0001g0113
a0004c0008t0133g0232
 4 HG03688.hp1
NA19000.hp2
NA19010.hp2
others(1): Show 
HG03688.hp1
NA19000.hp2
NA19010.hp2
NA19011.hp1
 intron_variant MODIFIER c.1705-3418_1705-341
others(128): Show 
c.1705-3418_1705-3417insCAGAGAGGCCCTCCTGGCCACCCCCC
TTCAGCAGAGAGGCCCTCCTGGCCACCCCCCTTCAGCAGAGAGGCCCTCC
TGGCCACCCCCCTTCAGCAGAGAGGCCCTCCTGGCCACCCCCCTTCAG
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 15/21 chr17 556879
chr17:556879 A
A
 ACTGAAGG
others(148): Show 
ACTGAAGGGGGGTGGCCAGGAGGGCCTCTCTGCTGAAGGGGGGTGGCCAG
GAGGGCCTCTCTGCTGAAGGGGGGTGGCCAGGAGGGCCTCTCTGCTGAAG
GGGGGTGGCCAGGAGGGCCTCTCTGCTGAAGGGGGGTGGCCAGGAGGGCC
TCTCTG
 3 a0003c0004t0006g0022
a0003c0004t0006g0023
a0004c0008t0103g0227
a0003c0004t0006g0022
a0003c0004t0006g0023
a0004c0008t0103g0227
 3 NA18973.hp2
NA18977.hp1
NA18986.hp2
NA18973.hp2
NA18977.hp1
NA18986.hp2
 intron_variant MODIFIER c.1705-3418_1705-341
others(159): Show 
c.1705-3418_1705-3417insCAGAGAGGCCCTCCTGGCCACCCCCC
TTCAGCAGAGAGGCCCTCCTGGCCACCCCCCTTCAGCAGAGAGGCCCTCC
TGGCCACCCCCCTTCAGCAGAGAGGCCCTCCTGGCCACCCCCCTTCAGCA
GAGAGGCCCTCCTGGCCACCCCCCTTCAG
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 15/21 chr17 556879
chr17:556879 A
A
 ACTGAAGG
others(179): Show 
ACTGAAGGGGGGTGGCCAGGAGGGCCTCTCTGCTGAAGGGGGGTGGCCAG
GAGGGCCTCTCTGCTGAAGGGGGGTGGCCAGGAGGGCCTCTCTGCTGAAG
GGGGGTGGCCAGGAGGGCCTCTCTGCTGAAGGGGGGTGGCCAGGAGGGCC
TCTCTGCTGAAGGGGGGTGGCCAGGAGGGCCTCTCTG
 1 a0001c0005t0046g0011
a0001c0005t0046g0011
 1 NA18994.hp2
NA18994.hp2
 intron_variant MODIFIER c.1705-3418_1705-341
others(190): Show 
c.1705-3418_1705-3417insCAGAGAGGCCCTCCTGGCCACCCCCC
TTCAGCAGAGAGGCCCTCCTGGCCACCCCCCTTCAGCAGAGAGGCCCTCC
TGGCCACCCCCCTTCAGCAGAGAGGCCCTCCTGGCCACCCCCCTTCAGCA
GAGAGGCCCTCCTGGCCACCCCCCTTCAGCAGAGAGGCCCTCCTGGCCAC
CCCCCTTCAG
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 15/21 chr17 556879
chr17:556879 A
A
 ACTGAAGG
others(210): Show 
ACTGAAGGGGGGTGGCCAGGAGGGCCTCTCTGCTGAAGGGGGGTGGCCAG
GAGGGCCTCTCTGCTGAAGGGGGGTGGCCAGGAGGGCCTCTCTGCTGAAG
GGGGGTGGCCAGGAGGGCCTCTCTGCTGAAGGGGGGTGGCCAGGAGGGCC
TCTCTGCTGAAGGGGGGTGGCCAGGAGGGCCTCTCTGCTGAAGGGGGGTG
GCCAGGAGGGCCTCTCTG
 2 a0001c0005t0010g0008
a0001c0005t0045g0009
a0001c0005t0010g0008
a0001c0005t0045g0009
 2 HG02135.hp2
NA18747.hp1
HG02135.hp2
NA18747.hp1
 intron_variant MODIFIER c.1705-3418_1705-341
others(221): Show 
c.1705-3418_1705-3417insCAGAGAGGCCCTCCTGGCCACCCCCC
TTCAGCAGAGAGGCCCTCCTGGCCACCCCCCTTCAGCAGAGAGGCCCTCC
TGGCCACCCCCCTTCAGCAGAGAGGCCCTCCTGGCCACCCCCCTTCAGCA
GAGAGGCCCTCCTGGCCACCCCCCTTCAGCAGAGAGGCCCTCCTGGCCAC
CCCCCTTCAGCAGAGAGGCCCTCCTGGCCACCCCCCTTCAG
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 15/21 chr17 556879
chr17:556879 A
A
 ACTGAAGG
others(334): Show 
ACTGAAGGGGGGTGGCCAGGAGGGCCTCTCTGCTGAAGGGGGGTGGCCAG
GAGGGCCTCTCTGCTGAAGGGGGGTGGCCAGGAGGGCCTCTCTGCTGAAG
GGGGGTGGCCAGGAGGGCCTCTCTGCTGAAGGGGGGTGGCCAGGAGGGCC
TCTCTGCTGAAGGGGGGTGGCCAGGAGGGCCTCTCTGCTGAAGGGGGGTG
GCCAGGAGGGCCTCTCTGCTGAAGGGGGGTGGCCAGGAGGGCCTCTCTGC
TGAAGGGGGGTGGCCAGGAGGGCCTCTCTGCTGAAGGGGGGTGGCCAGGA
GGGCCTCTCTGCTGAAGGGGGGTGGCCAGGAGGGCCTCTCTG
 1 a0001c0005t0080g0092
a0001c0005t0080g0092
 1 NA18955.hp2
NA18955.hp2
 intron_variant MODIFIER c.1705-3418_1705-341
others(345): Show 
c.1705-3418_1705-3417insCAGAGAGGCCCTCCTGGCCACCCCCC
TTCAGCAGAGAGGCCCTCCTGGCCACCCCCCTTCAGCAGAGAGGCCCTCC
TGGCCACCCCCCTTCAGCAGAGAGGCCCTCCTGGCCACCCCCCTTCAGCA
GAGAGGCCCTCCTGGCCACCCCCCTTCAGCAGAGAGGCCCTCCTGGCCAC
CCCCCTTCAGCAGAGAGGCCCTCCTGGCCACCCCCCTTCAGCAGAGAGGC
CCTCCTGGCCACCCCCCTTCAGCAGAGAGGCCCTCCTGGCCACCCCCCTT
CAGCAGAGAGGCCCTCCTGGCCACCCCCCTTCAGCAGAGAGGCCCTCCTG
GCCACCCCCCTTCAG
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 15/21 chr17 556879
chr17:556879 A
A
 ACTGAAGG
others(458): Show 
ACTGAAGGGGGGTGGCCAGGAGGGCCTCTCTGCTGAAGGGGGGTGGCCAG
GAGGGCCTCTCTGCTGAAGGGGGGTGGCCAGGAGGGCCTCTCTGCTGAAG
GGGGGTGGCCAGGAGGGCCTCTCTGCTGAAGGGGGGTGGCCAGGAGGGCC
TCTCTGCTGAAGGGGGGTGGCCAGGAGGGCCTCTCTGCTGAAGGGGGGTG
GCCAGGAGGGCCTCTCTGCTGAAGGGGGGTGGCCAGGAGGGCCTCTCTGC
TGAAGGGGGGTGGCCAGGAGGGCCTCTCTGCTGAAGGGGGGTGGCCAGGA
GGGCCTCTCTGCTGAAGGGGGGTGGCCAGGAGGGCCTCTCTGCTGAAGGG
GGGTGGCCAGGAGGGCCTCTCTGCTGAAGGGGGGTGGCCAGGAGGGCCTC
TCTGCTGAAGGGGGGTGGCCAGGAGGGCCTCTCTGCTGAAGGGGGGTGGC
CAGGAGGGCCTCTCTG
 1 a0001c0005t0044g0096
a0001c0005t0044g0096
 1 NA18960.hp2
NA18960.hp2
 intron_variant MODIFIER c.1705-3418_1705-341
others(469): Show 
c.1705-3418_1705-3417insCAGAGAGGCCCTCCTGGCCACCCCCC
TTCAGCAGAGAGGCCCTCCTGGCCACCCCCCTTCAGCAGAGAGGCCCTCC
TGGCCACCCCCCTTCAGCAGAGAGGCCCTCCTGGCCACCCCCCTTCAGCA
GAGAGGCCCTCCTGGCCACCCCCCTTCAGCAGAGAGGCCCTCCTGGCCAC
CCCCCTTCAGCAGAGAGGCCCTCCTGGCCACCCCCCTTCAGCAGAGAGGC
CCTCCTGGCCACCCCCCTTCAGCAGAGAGGCCCTCCTGGCCACCCCCCTT
CAGCAGAGAGGCCCTCCTGGCCACCCCCCTTCAGCAGAGAGGCCCTCCTG
GCCACCCCCCTTCAGCAGAGAGGCCCTCCTGGCCACCCCCCTTCAGCAGA
GAGGCCCTCCTGGCCACCCCCCTTCAGCAGAGAGGCCCTCCTGGCCACCC
CCCTTCAGCAGAGAGGCCCTCCTGGCCACCCCCCTTCAG
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 15/21 chr17 556879
chr17:556879 A
A
 ACTGAAGG
others(117): Show 
ACTGAAGGGGGGTGGCCAGGAGGGCCTCTCTGCTGAAGGGGGGTGGCCAG
GAGGGCCTCTCTGCTGAAGGGGGGTGGCCAGGAGGGGCTCTCTGCTGAAG
GGGGGTGGCCAGGAGGGCCTCTCTG
 2 a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0031g0153
a0001c0001t0031g0155
 2 HG01891.hp2
NA20129.hp2
HG01891.hp2
NA20129.hp2
 intron_variant MODIFIER c.1705-3418_1705-341
others(128): Show 
c.1705-3418_1705-3417insCAGAGAGGCCCTCCTGGCCACCCCCC
TTCAGCAGAGAGCCCCTCCTGGCCACCCCCCTTCAGCAGAGAGGCCCTCC
TGGCCACCCCCCTTCAGCAGAGAGGCCCTCCTGGCCACCCCCCTTCAG
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 15/21 chr17 556879
chr17:556879 A
A
 ACTGAAGG
others(179): Show 
ACTGAAGGGGGGTGGCCAGGAGGGCCTCTCTGCTGAAGGGGGGTGGCCAG
GAGGGGCTCTCTGCTGAAGGGGGGTGGCCAGGAGGGCCTCTCTGCTGAAG
GGGGGTGGCCAGGAGGGCCTCTCTGCTGAAGGGGGGTGGCCAGGAGGGGC
TCTCTGCTGAAGGGGGGTGGCCAGGAGGGCCTCTCTG
 1 a0001c0001t0134g0154
a0001c0001t0134g0154
 1 NA20300.hp1
NA20300.hp1
 intron_variant MODIFIER c.1705-3418_1705-341
others(190): Show 
c.1705-3418_1705-3417insCAGAGAGGCCCTCCTGGCCACCCCCC
TTCAGCAGAGAGCCCCTCCTGGCCACCCCCCTTCAGCAGAGAGGCCCTCC
TGGCCACCCCCCTTCAGCAGAGAGGCCCTCCTGGCCACCCCCCTTCAGCA
GAGAGCCCCTCCTGGCCACCCCCCTTCAGCAGAGAGGCCCTCCTGGCCAC
CCCCCTTCAG
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 15/21 chr17 556879
chr17:556895 C
C
 CAGGAGGG
others(118): Show 
CAGGAGGGCCTCTCTGCTGAAGGGGGGTGGCCAGGAGGGCCTCTCTGCTG
AAGGGGGGTGGCCAGGAGGGCCTCTCTGCTGAAGGGGGGTGGCCAGGAGG
GGCTCTCTGCTGAAGGGGGGTGGTCA
 1 a0001c0001t0108g0148
a0001c0001t0108g0148
 1 HG01192.hp1
HG01192.hp1
 intron_variant MODIFIER c.1705-3434_1705-343
others(129): Show 
c.1705-3434_1705-3433insTGACCACCCCCCTTCAGCAGAGAGCC
CCTCCTGGCCACCCCCCTTCAGCAGAGAGGCCCTCCTGGCCACCCCCCTT
CAGCAGAGAGGCCCTCCTGGCCACCCCCCTTCAGCAGAGAGGCCCTCCT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 15/21 chr17 556895
chr17:556903 C
C
 CCTCTCTG
others(179): Show 
CCTCTCTGCTGAAGGGGGGTGGCCAGGAGGGCCTCTCTGCTGAAGGGGGG
TGGCCAGGAGGGCCTCTCTGCTGAAGGGGGGTGGCCAGGAGGGCCTCTCT
GCTGAAGGGGGGTGGCCAGGAGGGCCTCTCTGCTGAAGGGGGGTGGCCAG
GAGGGCCTCTCTGCTGAAGGGGGGTGGCCAGGAGGGG
 1 a0001c0001t0016g0125
a0001c0001t0016g0125
 1 HG02132.hp2
HG02132.hp2
 intron_variant MODIFIER c.1705-3442_1705-344
others(190): Show 
c.1705-3442_1705-3441insCCCCTCCTGGCCACCCCCCTTCAGCA
GAGAGGCCCTCCTGGCCACCCCCCTTCAGCAGAGAGGCCCTCCTGGCCAC
CCCCCTTCAGCAGAGAGGCCCTCCTGGCCACCCCCCTTCAGCAGAGAGGC
CCTCCTGGCCACCCCCCTTCAGCAGAGAGGCCCTCCTGGCCACCCCCCTT
CAGCAGAGAG
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 15/21 chr17 556903
chr17:556903 C
C
 CCTCTCTG
others(24): Show 
CCTCTCTGCTGAAGGGGGGTGGCCAGGAGGGG
 2 a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0101g0200
a0001c0001t0102g0220
 2 HG02572.hp2
HG03139.hp1
HG02572.hp2
HG03139.hp1
 intron_variant MODIFIER c.1705-3472_1705-344
others(35): Show 
c.1705-3472_1705-3442dupCCCCTCCTGGCCACCCCCCTTCAGCA
GAGAG
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 15/21 chr17 556903
chr17:556916 G
G
 GGGGGGTG
others(86): Show 
GGGGGGTGGCCAGGAGGGCCTCTCTGCTGAAGGGGGGTGGCCAGGAGGGC
CTCTCTGCTGAAGGGGGGTGGCCAGGAGGGCCTCTCTGCTGAAT
 1 a0001c0015t0126g0149
a0001c0015t0126g0149
 1 HG02723.hp1
HG02723.hp1
 intron_variant MODIFIER c.1705-3455_1705-345
others(97): Show 
c.1705-3455_1705-3454insATTCAGCAGAGAGGCCCTCCTGGCCA
CCCCCCTTCAGCAGAGAGGCCCTCCTGGCCACCCCCCTTCAGCAGAGAGG
CCCTCCTGGCCACCCCC
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 15/21 chr17 556916
chr17:556921 G
G
 A
A
 1 a0006c0012t0129g0140
a0006c0012t0129g0140
 1 NA18978.hp2
NA18978.hp2
 intron_variant MODIFIER c.1705-3459C>T
c.1705-3459C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 15/21 chr17 556921
chr17:556926 C
C
 CA
CA
 7 a0003c0004t0005g0027
a0003c0004t0005g0030
a0003c0004t0006g0016
others(4): Show 
a0003c0004t0005g0027
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0059g0029
a0003c0004t0061g0031
a0003c0004t0063g0034
a0006c0012t0129g0140
 7 NA18962.hp1
NA18978.hp1
NA18978.hp2
others(4): Show 
NA18962.hp1
NA18978.hp1
NA18978.hp2
NA19060.hp1
NA19064.hp1
NA19081.hp1
NA19091.hp2
 intron_variant MODIFIER c.1705-3465dupT
c.1705-3465dupT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 15/21 chr17 556926
chr17:556926 C
C
 CAGGAGGG
others(25): Show 
CAGGAGGGCCTCTCTGCTGAAGGGGGATGGCCA
 50 a0001c0001t0015g0131
a0001c0002t0001g0094
a0001c0002t0065g0093
others(47): Show 
a0001c0001t0015g0131
a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0072g0071
a0001c0002t0077g0095
a0001c0002t0109g0222
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0017g0179
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0018g0231
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0085g0184
a0002c0003t0089g0175
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0099g0192
a0002c0003t0104g0208
a0002c0003t0131g0193
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0145g0187
a0002c0003t0146g0170
a0002c0003t0148g0174
a0002c0003t0150g0191
a0002c0010t0038g0156
a0003c0004t0003g0036
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0025g0038
a0003c0004t0081g0035
a0004c0008t0036g0207
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
 50 HG00099.hp1
HG00323.hp2
HG00423.hp1
others(47): Show 
HG00099.hp1
HG00323.hp2
HG00423.hp1
HG00438.hp2
HG00621.hp1
HG01070.hp2
HG01071.hp1
HG01099.hp1
HG01167.hp1
HG01928.hp1
HG01981.hp1
HG02040.hp1
HG02056.hp1
HG02074.hp2
HG02083.hp1
HG02109.hp1
HG02129.hp1
HG02132.hp1
HG02293.hp1
HG02300.hp1
HG02738.hp2
HG03491.hp2
HG03942.hp1
HG04199.hp1
NA18612.hp1
NA18612.hp2
NA18747.hp2
NA18946.hp1
NA18955.hp1
NA18957.hp2
NA18960.hp1
NA18979.hp2
NA18983.hp1
NA18984.hp2
NA18986.hp1
NA18987.hp1
NA18990.hp1
NA19000.hp1
NA19010.hp1
NA19011.hp2
NA19060.hp2
NA19064.hp2
NA19066.hp2
NA19068.hp1
NA19074.hp1
NA19080.hp2
NA19084.hp2
NA19090.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.1705-3465_1705-346
others(36): Show 
c.1705-3465_1705-3464insTGGCCATCCCCCTTCAGCAGAGAGGC
CCTCCT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 15/21 chr17 556926
chr17:556926 C
C
 CAGGAGGG
others(25): Show 
CAGGAGGGCCTCTCTGCTGAAGGGGGGTGGCCA
 2 a0001c0002t0014g0077
a0001c0002t0049g0048
a0001c0002t0014g0077
a0001c0002t0049g0048
 2 HG02145.hp2
NA18967.hp1
HG02145.hp2
NA18967.hp1
 intron_variant MODIFIER c.1705-3465_1705-346
others(36): Show 
c.1705-3465_1705-3464insTGGCCACCCCCCTTCAGCAGAGAGGC
CCTCCT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 15/21 chr17 556926
chr17:556926 C
C
 CAGGAGGG
others(56): Show 
CAGGAGGGCCTCTCTGCTGAAGGGGGGTGGCCAGGAGGGCCTCTCTGCTG
AAGGGGGATGGCCA
 6 a0001c0002t0003g0072
a0001c0002t0005g0065
a0001c0002t0013g0083
others(3): Show 
a0001c0002t0003g0072
a0001c0002t0005g0065
a0001c0002t0013g0083
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0079g0086
 6 HG01081.hp1
HG01106.hp1
HG01361.hp1
others(3): Show 
HG01081.hp1
HG01106.hp1
HG01361.hp1
HG01496.hp1
NA18948.hp2
NA20805.hp2
 intron_variant MODIFIER c.1705-3465_1705-346
others(67): Show 
c.1705-3465_1705-3464insTGGCCATCCCCCTTCAGCAGAGAGGC
CCTCCTGGCCACCCCCCTTCAGCAGAGAGGCCCTCCT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 15/21 chr17 556926
chr17:556926 C
C
 CAGGAGGG
others(87): Show 
CAGGAGGGCCTCTCTGCTGAAGGGGGGTGGCCAGGAGGGCCTCTCTGCTG
AAGGGGGGTGGCCAGGAGGGCCTCTCTGCTGAAGGGGGGTGGCCA
 1 a0001c0011t0051g0091
a0001c0011t0051g0091
 1 HG01074.hp2
HG01074.hp2
 intron_variant MODIFIER c.1705-3465_1705-346
others(98): Show 
c.1705-3465_1705-3464insTGGCCACCCCCCTTCAGCAGAGAGGC
CCTCCTGGCCACCCCCCTTCAGCAGAGAGGCCCTCCTGGCCACCCCCCTT
CAGCAGAGAGGCCCTCCT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 15/21 chr17 556926
chr17:556926 C
C
 CAGGAGGG
others(273): Show 
CAGGAGGGCCTCTCTGCTGAAGGGGGGTGGCCAGGAGGGCCTCTCTGCTG
AAGGGGGGTGGCCAGGAGGGCCTCTCTGCTGAAGGGGGGTGGCCAGGAGG
GCCTCTCTGCTGAAGGGGGGTGGCCAGGAGGGCCTCTCTGCTGAAGGGGG
GTGGCCAGGAGGGCCTCTCTGCTGAAGGGGGGTGGCCAGGAGGGCCTCTC
TGCTGAAGGGGGGTGGCCAGGAGGGCCTCTCTGCTGAAGGGGGGTGGCCA
GGAGGGCCTCTCTGCTGAAGGGGGGTGGCCA
 1 a0001c0005t0019g0007
a0001c0005t0019g0007
 1 HG02602.hp1
HG02602.hp1
 intron_variant MODIFIER c.1705-3465_1705-346
others(284): Show 
c.1705-3465_1705-3464insTGGCCACCCCCCTTCAGCAGAGAGGC
CCTCCTGGCCACCCCCCTTCAGCAGAGAGGCCCTCCTGGCCACCCCCCTT
CAGCAGAGAGGCCCTCCTGGCCACCCCCCTTCAGCAGAGAGGCCCTCCTG
GCCACCCCCCTTCAGCAGAGAGGCCCTCCTGGCCACCCCCCTTCAGCAGA
GAGGCCCTCCTGGCCACCCCCCTTCAGCAGAGAGGCCCTCCTGGCCACCC
CCCTTCAGCAGAGAGGCCCTCCTGGCCACCCCCCTTCAGCAGAGAGGCCC
TCCT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 15/21 chr17 556926
chr17:556960 G
G
 A
A
 26 a0001c0001t0121g0143
a0001c0002t0001g0056
a0001c0002t0001g0079
others(23): Show 
a0001c0001t0121g0143
a0001c0002t0001g0056
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0014g0074
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0058g0052
a0001c0016t0052g0099
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
 26 HG00140.hp2
HG00280.hp1
HG00323.hp1
others(23): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp1
HG01071.hp2
HG01074.hp1
HG01167.hp2
HG01168.hp2
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG02135.hp1
HG02886.hp1
HG04199.hp2
NA18944.hp1
NA18948.hp2
NA18950.hp2
NA18959.hp1
NA18959.hp2
NA18962.hp2
NA18977.hp1
NA18979.hp1
NA18986.hp2
NA19007.hp1
NA19065.hp1
NA19084.hp1
NA19090.hp1
 intron_variant MODIFIER c.1704+3466C>T
c.1704+3466C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 15/21 chr17 556960
chr17:557011 C
C
 T
T
 1 a0002c0003t0139g0167
a0002c0003t0139g0167
 1 NA18983.hp1
NA18983.hp1
 intron_variant MODIFIER c.1704+3415G>A
c.1704+3415G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 15/21 chr17 557011
chr17:557275 G
G
 A
A
 1 a0001c0014t0135g0166
a0001c0014t0135g0166
 1 HG02572.hp1
HG02572.hp1
 intron_variant MODIFIER c.1704+3151C>T
c.1704+3151C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 15/21 chr17 557275
chr17:557855 C
C
 CT
CT
 10 a0001c0001t0002g0137
a0001c0001t0011g0013
a0001c0001t0121g0143
others(7): Show 
a0001c0001t0002g0137
a0001c0001t0011g0013
a0001c0001t0121g0143
a0001c0002t0001g0090
a0001c0002t0025g0075
a0002c0003t0018g0231
a0002c0003t0037g0115
a0003c0004t0004g0026
a0003c0004t0006g0024
a0004c0008t0036g0207
 10 HG00423.hp1
HG01361.hp2
HG01978.hp1
others(7): Show 
HG00423.hp1
HG01361.hp2
HG01978.hp1
HG02738.hp1
HG03942.hp1
HG04199.hp2
NA18959.hp1
NA18986.hp1
NA18990.hp1
NA19009.hp2
 intron_variant MODIFIER c.1704+2570dupA
c.1704+2570dupA
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 15/21 chr17 557855
chr17:557855 CT
CT
 C
C
 13 a0001c0001t0032g0204
a0001c0001t0110g0127
a0001c0002t0001g0094
others(10): Show 
a0001c0001t0032g0204
a0001c0001t0110g0127
a0001c0002t0001g0094
a0001c0002t0010g0087
a0001c0002t0065g0093
a0001c0002t0072g0071
a0001c0002t0077g0095
a0001c0006t0068g0098
a0001c0011t0051g0091
a0001c0016t0052g0099
a0002c0003t0027g0181
a0002c0003t0104g0208
a0003c0004t0004g0014
 13 HG01074.hp2
HG01168.hp2
HG02922.hp1
others(10): Show 
HG01074.hp2
HG01168.hp2
HG02922.hp1
NA18747.hp2
NA18948.hp1
NA18957.hp1
NA18960.hp1
NA18984.hp2
NA18987.hp1
NA19064.hp2
NA19065.hp2
NA19074.hp1
NA19084.hp1
 intron_variant MODIFIER c.1704+2570delA
c.1704+2570delA
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 15/21 chr17 557855
chr17:558214 T
T
 C
C
 1 a0001c0002t0050g0049
a0001c0002t0050g0049
 1 HG02280.hp1
HG02280.hp1
 intron_variant MODIFIER c.1704+2212A>G
c.1704+2212A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 15/21 chr17 558214
chr17:558263 T
T
 C
C
 211 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(208): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0017g0158
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0032g0114
a0001c0001t0032g0204
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0034g0126
a0001c0001t0034g0162
a0001c0001t0069g0012
a0001c0001t0084g0046
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0097g0199
a0001c0001t0098g0147
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0105g0201
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0108g0148
a0001c0001t0110g0127
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0118g0195
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0122g0160
a0001c0001t0123g0123
a0001c0001t0127g0159
a0001c0001t0128g0132
a0001c0001t0134g0154
a0001c0001t0138g0161
a0001c0001t0141g0165
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0001g0094
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0049g0048
a0001c0002t0050g0049
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0065g0093
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0077g0095
a0001c0002t0078g0041
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0002t0086g0221
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0001c0011t0051g0091
a0001c0014t0135g0166
a0001c0015t0126g0149
a0001c0016t0052g0099
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0017g0179
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0018g0231
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0073g0068
a0002c0003t0085g0184
a0002c0003t0089g0175
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0099g0192
a0002c0003t0104g0208
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0145g0187
a0002c0003t0146g0170
a0002c0003t0148g0174
a0002c0003t0150g0191
a0002c0010t0038g0156
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0004c0008t0036g0207
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
a0006c0012t0129g0140
a0007c0013t0132g0163
 211 HG00099.hp2
HG00140.hp2
HG00280.hp1
others(208): Show 
HG00099.hp2
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp2
HG00621.hp1
HG00621.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp1
HG01258.hp2
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02056.hp1
HG02056.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18944.hp1
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18955.hp1
NA18955.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18967.hp1
NA18967.hp2
NA18973.hp1
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18990.hp1
NA18994.hp1
NA18994.hp2
NA19000.hp1
NA19000.hp2
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19087.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1704+2163A>G
c.1704+2163A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 15/21 chr17 558263
chr17:558421 C
C
 T
T
 1 a0002c0003t0009g0185
a0002c0003t0009g0185
 1 HG01928.hp1
HG01928.hp1
 intron_variant MODIFIER c.1704+2005G>A
c.1704+2005G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 15/21 chr17 558421
chr17:558551 G
G
 A
A
 1 a0001c0002t0003g0072
a0001c0002t0003g0072
 1 HG01081.hp1
HG01081.hp1
 intron_variant MODIFIER c.1704+1875C>T
c.1704+1875C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 15/21 chr17 558551
chr17:558669 G
G
 A
A
 1 a0002c0003t0139g0167
a0002c0003t0139g0167
 1 NA18983.hp1
NA18983.hp1
 intron_variant MODIFIER c.1704+1757C>T
c.1704+1757C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 15/21 chr17 558669
chr17:558725 C
C
 T
T
 84 a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
others(81): Show 
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0050g0049
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0078g0041
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0002t0086g0221
a0001c0014t0135g0166
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0017g0179
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0018g0231
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0073g0068
a0002c0003t0085g0184
a0002c0003t0089g0175
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0099g0192
a0002c0003t0104g0208
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0145g0187
a0002c0003t0146g0170
a0002c0003t0148g0174
a0002c0003t0150g0191
a0004c0008t0036g0207
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
 84 HG00140.hp2
HG00280.hp1
HG00323.hp1
others(81): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00438.hp2
HG00621.hp1
HG00621.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01099.hp1
HG01106.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01361.hp1
HG01496.hp1
HG01928.hp1
HG01978.hp1
HG01981.hp1
HG02040.hp1
HG02056.hp1
HG02074.hp2
HG02083.hp1
HG02129.hp1
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02280.hp1
HG02293.hp1
HG02300.hp1
HG02572.hp1
HG02738.hp1
HG02738.hp2
HG02886.hp1
HG03491.hp2
HG03516.hp2
HG03831.hp1
HG03942.hp1
HG04199.hp1
HG04204.hp2
NA18612.hp1
NA18906.hp2
NA18940.hp1
NA18944.hp1
NA18946.hp1
NA18946.hp2
NA18948.hp2
NA18955.hp1
NA18957.hp2
NA18959.hp2
NA18960.hp1
NA18962.hp2
NA18967.hp1
NA18973.hp1
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA19000.hp1
NA19007.hp1
NA19009.hp1
NA19010.hp1
NA19065.hp1
NA19066.hp2
NA19070.hp1
NA19074.hp1
NA19079.hp1
NA19080.hp2
NA19084.hp1
NA19084.hp2
NA19090.hp1
NA19090.hp2
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1704+1701G>A
c.1704+1701G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 15/21 chr17 558725
chr17:558821 T
T
 TA
TA
 100 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(97): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0017g0158
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0032g0114
a0001c0001t0032g0204
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0034g0126
a0001c0001t0034g0162
a0001c0001t0069g0012
a0001c0001t0084g0046
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0097g0199
a0001c0001t0098g0147
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0105g0201
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0110g0127
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0118g0195
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0122g0160
a0001c0001t0123g0123
a0001c0001t0127g0159
a0001c0001t0128g0132
a0001c0001t0134g0154
a0001c0001t0138g0161
a0001c0001t0141g0165
a0001c0002t0049g0048
a0001c0005t0019g0006
a0001c0007t0011g0105
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0001c0015t0126g0149
a0002c0010t0038g0156
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0006c0012t0129g0140
a0007c0013t0132g0163
 100 HG00423.hp2
HG00741.hp1
HG00741.hp2
others(97): Show 
HG00423.hp2
HG00741.hp1
HG00741.hp2
HG01081.hp2
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01175.hp2
HG01192.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01346.hp2
HG01361.hp2
HG01496.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp2
HG01978.hp2
HG02040.hp2
HG02056.hp2
HG02074.hp1
HG02083.hp2
HG02109.hp2
HG02129.hp2
HG02132.hp2
HG02145.hp2
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02572.hp2
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02723.hp1
HG02723.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03492.hp2
HG03516.hp1
HG03688.hp2
HG03831.hp2
HG04184.hp2
HG04199.hp2
HG04204.hp1
NA18612.hp2
NA18940.hp2
NA18945.hp1
NA18945.hp2
NA18950.hp1
NA18950.hp2
NA18957.hp1
NA18959.hp1
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18967.hp2
NA18977.hp1
NA18978.hp1
NA18978.hp2
NA18983.hp2
NA18986.hp2
NA18987.hp2
NA18990.hp1
NA18994.hp1
NA19009.hp2
NA19010.hp2
NA19011.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19065.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19079.hp2
NA19080.hp1
NA19081.hp1
NA19081.hp2
NA19087.hp2
NA19091.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA21309.hp1
 intron_variant MODIFIER c.1704+1604dupT
c.1704+1604dupT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 15/21 chr17 558821
chr17:558821 TA
TA
 T
T
 36 a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
others(33): Show 
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0017g0179
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0018g0231
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0085g0184
a0002c0003t0089g0175
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0099g0192
a0002c0003t0104g0208
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0145g0187
a0002c0003t0146g0170
a0002c0003t0150g0191
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
 36 HG00323.hp2
HG00438.hp2
HG00621.hp1
others(33): Show 
HG00323.hp2
HG00438.hp2
HG00621.hp1
HG01070.hp2
HG01071.hp1
HG01099.hp1
HG01167.hp1
HG01928.hp1
HG01981.hp1
HG02040.hp1
HG02056.hp1
HG02074.hp2
HG02083.hp1
HG02129.hp1
HG02132.hp1
HG02293.hp1
HG02300.hp1
HG02738.hp2
HG03491.hp2
HG03831.hp1
HG03942.hp1
HG04199.hp1
NA18612.hp1
NA18946.hp1
NA18955.hp1
NA18957.hp2
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA19000.hp1
NA19010.hp1
NA19066.hp2
NA19074.hp1
NA19080.hp2
NA19084.hp2
NA19090.hp2
 intron_variant MODIFIER c.1704+1604delT
c.1704+1604delT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 15/21 chr17 558821
chr17:559083 C
C
 T
T
 43 a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
others(40): Show 
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0078g0041
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0002c0003t0073g0068
 43 HG00140.hp2
HG00280.hp1
HG00323.hp1
others(40): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp1
HG00621.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01106.hp1
HG01167.hp2
HG01168.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01361.hp1
HG01496.hp1
HG01978.hp1
HG02135.hp1
HG02738.hp1
HG02886.hp1
HG03516.hp2
HG04204.hp2
NA18906.hp2
NA18940.hp1
NA18944.hp1
NA18946.hp2
NA18948.hp2
NA18959.hp2
NA18960.hp1
NA18962.hp2
NA18967.hp1
NA18973.hp1
NA18977.hp2
NA18979.hp1
NA19007.hp1
NA19009.hp1
NA19065.hp1
NA19070.hp1
NA19079.hp1
NA19084.hp1
NA19090.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1704+1343G>A
c.1704+1343G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 15/21 chr17 559083
chr17:559202 T
T
 C
C
 14 a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
others(11): Show 
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0097g0199
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0105g0201
a0001c0001t0118g0195
a0001c0001t0134g0154
 14 HG01109.hp2
HG01346.hp2
HG01884.hp1
others(11): Show 
HG01109.hp2
HG01346.hp2
HG01884.hp1
HG01891.hp2
HG02572.hp2
HG02622.hp1
HG02622.hp2
HG02723.hp2
HG02818.hp1
HG02922.hp2
HG03139.hp1
HG03139.hp2
NA20129.hp2
NA20300.hp1
 intron_variant MODIFIER c.1704+1224A>G
c.1704+1224A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 15/21 chr17 559202
chr17:559489 A
A
 G
G
 5 a0001c0002t0003g0072
a0001c0002t0013g0083
a0001c0002t0024g0073
others(2): Show 
a0001c0002t0003g0072
a0001c0002t0013g0083
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0079g0086
 5 HG01081.hp1
HG01106.hp1
HG01361.hp1
others(2): Show 
HG01081.hp1
HG01106.hp1
HG01361.hp1
HG01496.hp1
NA20805.hp2
 intron_variant MODIFIER c.1704+937T>C
c.1704+937T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 15/21 chr17 559489
chr17:559598 A
A
 T
T
 1 a0001c0002t0049g0048
a0001c0002t0049g0048
 1 HG02145.hp2
HG02145.hp2
 intron_variant MODIFIER c.1704+828T>A
c.1704+828T>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 15/21 chr17 559598
chr17:559803 C
C
 T
T
 188 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(185): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0017g0158
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0032g0114
a0001c0001t0032g0204
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0034g0126
a0001c0001t0034g0162
a0001c0001t0069g0012
a0001c0001t0084g0046
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0097g0199
a0001c0001t0098g0147
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0105g0201
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0108g0148
a0001c0001t0110g0127
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0118g0195
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0122g0160
a0001c0001t0123g0123
a0001c0001t0127g0159
a0001c0001t0128g0132
a0001c0001t0134g0154
a0001c0001t0138g0161
a0001c0001t0141g0165
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0001g0094
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0049g0048
a0001c0002t0050g0049
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0065g0093
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0077g0095
a0001c0002t0078g0041
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0002t0086g0221
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0001c0011t0051g0091
a0001c0014t0135g0166
a0001c0015t0126g0149
a0001c0016t0052g0099
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0017g0179
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0018g0231
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0073g0068
a0002c0003t0085g0184
a0002c0003t0089g0175
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0099g0192
a0002c0003t0104g0208
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0145g0187
a0002c0003t0146g0170
a0002c0003t0148g0174
a0002c0003t0150g0191
a0002c0010t0038g0156
a0004c0008t0036g0207
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
a0006c0012t0129g0140
a0007c0013t0132g0163
 188 HG00099.hp2
HG00140.hp2
HG00280.hp1
others(185): Show 
HG00099.hp2
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp2
HG00621.hp1
HG00621.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp1
HG01258.hp2
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02056.hp1
HG02056.hp2
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03942.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
NA18612.hp1
NA18747.hp1
NA18747.hp2
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18944.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18955.hp1
NA18955.hp2
NA18957.hp2
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18962.hp2
NA18967.hp1
NA18967.hp2
NA18973.hp1
NA18977.hp2
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp2
NA18986.hp1
NA18987.hp1
NA18987.hp2
NA18994.hp2
NA19000.hp1
NA19000.hp2
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19060.hp2
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp2
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp2
NA19081.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1704+623G>A
c.1704+623G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 15/21 chr17 559803
chr17:559830 C
C
 T
T
 1 a0002c0003t0009g0185
a0002c0003t0009g0185
 1 HG01928.hp1
HG01928.hp1
 intron_variant MODIFIER c.1704+596G>A
c.1704+596G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 15/21 chr17 559830
chr17:560199 G
G
 A
A
 1 a0001c0001t0002g0133
a0001c0001t0002g0133
 1 HG02040.hp2
HG02040.hp2
 intron_variant MODIFIER c.1704+227C>T
c.1704+227C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 15/21 chr17 560199
chr17:560603 A
A
 G
G
 101 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(98): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0017g0158
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0032g0114
a0001c0001t0032g0204
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0034g0126
a0001c0001t0034g0162
a0001c0001t0069g0012
a0001c0001t0084g0046
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0097g0199
a0001c0001t0098g0147
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0105g0201
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0108g0148
a0001c0001t0110g0127
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0118g0195
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0122g0160
a0001c0001t0123g0123
a0001c0001t0127g0159
a0001c0001t0128g0132
a0001c0001t0134g0154
a0001c0001t0138g0161
a0001c0001t0141g0165
a0001c0002t0049g0048
a0001c0002t0086g0221
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0001c0015t0126g0149
a0001c0016t0052g0099
a0002c0010t0038g0156
a0006c0012t0129g0140
a0007c0013t0132g0163
 101 HG00099.hp2
HG00280.hp2
HG00423.hp2
others(98): Show 
HG00099.hp2
HG00280.hp2
HG00423.hp2
HG00741.hp1
HG00741.hp2
HG01081.hp2
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01346.hp2
HG01361.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp2
HG01978.hp2
HG01981.hp2
HG02040.hp2
HG02056.hp2
HG02083.hp2
HG02109.hp2
HG02129.hp2
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02723.hp1
HG02723.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03688.hp1
HG03688.hp2
HG04184.hp2
HG04199.hp2
HG04204.hp1
NA18747.hp1
NA18940.hp2
NA18945.hp2
NA18948.hp1
NA18950.hp1
NA18955.hp2
NA18960.hp2
NA18961.hp1
NA18967.hp2
NA18978.hp2
NA18983.hp2
NA18987.hp2
NA18994.hp2
NA19000.hp2
NA19009.hp2
NA19010.hp2
NA19060.hp2
NA19065.hp2
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19079.hp2
NA19081.hp2
NA19087.hp1
NA19091.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA21309.hp1
 intron_variant MODIFIER c.1557-30T>C
c.1557-30T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 14/21 chr17 560603
chr17:560804 C
C
 T
T
 4 a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0089g0175
others(1): Show 
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0089g0175
a0002c0003t0146g0170
 4 HG02074.hp2
HG02132.hp1
NA18986.hp1
others(1): Show 
HG02074.hp2
HG02132.hp1
NA18986.hp1
NA19090.hp2
 intron_variant MODIFIER c.1557-231G>A
c.1557-231G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 14/21 chr17 560804
chr17:560924 T
T
 C
C
 1 a0003c0004t0059g0029
a0003c0004t0059g0029
 1 NA19091.hp2
NA19091.hp2
 intron_variant MODIFIER c.1557-351A>G
c.1557-351A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 14/21 chr17 560924
chr17:560975 G
G
 A
A
 2 a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0028g0196
a0001c0001t0028g0197
 2 HG02622.hp1
HG02723.hp2
HG02622.hp1
HG02723.hp2
 intron_variant MODIFIER c.1557-402C>T
c.1557-402C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 14/21 chr17 560975
chr17:561019 A
A
 G
G
 188 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(185): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0017g0158
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0032g0114
a0001c0001t0032g0204
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0034g0126
a0001c0001t0034g0162
a0001c0001t0069g0012
a0001c0001t0084g0046
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0097g0199
a0001c0001t0098g0147
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0105g0201
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0108g0148
a0001c0001t0110g0127
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0118g0195
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0122g0160
a0001c0001t0123g0123
a0001c0001t0127g0159
a0001c0001t0128g0132
a0001c0001t0134g0154
a0001c0001t0138g0161
a0001c0001t0141g0165
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0001g0094
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0049g0048
a0001c0002t0050g0049
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0065g0093
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0077g0095
a0001c0002t0078g0041
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0002t0086g0221
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0001c0011t0051g0091
a0001c0014t0135g0166
a0001c0015t0126g0149
a0001c0016t0052g0099
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0017g0179
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0018g0231
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0073g0068
a0002c0003t0085g0184
a0002c0003t0089g0175
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0099g0192
a0002c0003t0104g0208
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0145g0187
a0002c0003t0146g0170
a0002c0003t0148g0174
a0002c0003t0150g0191
a0002c0010t0038g0156
a0004c0008t0036g0207
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
a0006c0012t0129g0140
a0007c0013t0132g0163
 188 HG00099.hp2
HG00140.hp2
HG00280.hp1
others(185): Show 
HG00099.hp2
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp2
HG00621.hp1
HG00621.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp1
HG01258.hp2
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02056.hp1
HG02056.hp2
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03942.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
NA18612.hp1
NA18747.hp1
NA18747.hp2
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18944.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18955.hp1
NA18955.hp2
NA18957.hp2
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18962.hp2
NA18967.hp1
NA18967.hp2
NA18973.hp1
NA18977.hp2
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp2
NA18986.hp1
NA18987.hp1
NA18987.hp2
NA18994.hp2
NA19000.hp1
NA19000.hp2
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19060.hp2
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp2
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp2
NA19081.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1557-446T>C
c.1557-446T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 14/21 chr17 561019
chr17:561034 G
G
 A
A
 10 a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
others(7): Show 
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
 10 HG02135.hp2
HG02602.hp1
NA18747.hp1
others(7): Show 
HG02135.hp2
HG02602.hp1
NA18747.hp1
NA18955.hp2
NA18960.hp2
NA18994.hp2
NA19000.hp2
NA19010.hp2
NA19087.hp1
NA19091.hp1
 intron_variant MODIFIER c.1557-461C>T
c.1557-461C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 14/21 chr17 561034
chr17:561051 T
T
 C
C
 104 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(101): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0017g0158
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0032g0114
a0001c0001t0032g0204
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0034g0126
a0001c0001t0034g0162
a0001c0001t0069g0012
a0001c0001t0084g0046
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0097g0199
a0001c0001t0098g0147
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0105g0201
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0108g0148
a0001c0001t0110g0127
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0118g0195
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0122g0160
a0001c0001t0123g0123
a0001c0001t0127g0159
a0001c0001t0128g0132
a0001c0001t0134g0154
a0001c0001t0138g0161
a0001c0001t0141g0165
a0001c0002t0001g0094
a0001c0002t0049g0048
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0001c0011t0051g0091
a0001c0015t0126g0149
a0001c0016t0052g0099
a0002c0010t0038g0156
a0006c0012t0129g0140
a0007c0013t0132g0163
 104 HG00099.hp2
HG00280.hp2
HG00423.hp2
others(101): Show 
HG00099.hp2
HG00280.hp2
HG00423.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp2
HG01081.hp2
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01346.hp2
HG01361.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp2
HG01978.hp2
HG01981.hp2
HG02040.hp2
HG02056.hp2
HG02083.hp2
HG02109.hp2
HG02129.hp2
HG02132.hp2
HG02135.hp2
HG02145.hp2
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02723.hp1
HG02723.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03688.hp1
HG03688.hp2
HG04184.hp2
HG04199.hp2
HG04204.hp1
NA18747.hp1
NA18747.hp2
NA18940.hp2
NA18945.hp2
NA18948.hp1
NA18950.hp1
NA18955.hp2
NA18960.hp2
NA18961.hp1
NA18967.hp2
NA18978.hp2
NA18983.hp2
NA18984.hp2
NA18987.hp2
NA18994.hp2
NA19000.hp2
NA19009.hp2
NA19010.hp2
NA19060.hp2
NA19064.hp2
NA19065.hp2
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19079.hp2
NA19081.hp2
NA19087.hp1
NA19091.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA21309.hp1
 intron_variant MODIFIER c.1557-478A>G
c.1557-478A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 14/21 chr17 561051
chr17:561057 T
T
 C
C
 41 a0001c0002t0050g0049
a0001c0002t0086g0221
a0001c0014t0135g0166
others(38): Show 
a0001c0002t0050g0049
a0001c0002t0086g0221
a0001c0014t0135g0166
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0017g0179
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0018g0231
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0085g0184
a0002c0003t0089g0175
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0099g0192
a0002c0003t0104g0208
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0145g0187
a0002c0003t0146g0170
a0002c0003t0148g0174
a0002c0003t0150g0191
a0004c0008t0036g0207
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
 41 HG00323.hp2
HG00423.hp1
HG00438.hp2
others(38): Show 
HG00323.hp2
HG00423.hp1
HG00438.hp2
HG00621.hp1
HG01070.hp2
HG01071.hp1
HG01099.hp1
HG01167.hp1
HG01928.hp1
HG01981.hp1
HG02040.hp1
HG02056.hp1
HG02074.hp2
HG02083.hp1
HG02129.hp1
HG02132.hp1
HG02145.hp1
HG02280.hp1
HG02293.hp1
HG02300.hp1
HG02572.hp1
HG02738.hp2
HG03491.hp2
HG03831.hp1
HG03942.hp1
HG04199.hp1
NA18612.hp1
NA18946.hp1
NA18955.hp1
NA18957.hp2
NA18979.hp2
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA19000.hp1
NA19010.hp1
NA19066.hp2
NA19074.hp1
NA19080.hp2
NA19084.hp2
NA19090.hp2
 intron_variant MODIFIER c.1557-484A>G
c.1557-484A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 14/21 chr17 561057
chr17:561082 G
G
 C
C
 4 a0001c0002t0001g0045
a0001c0002t0001g0090
a0001c0002t0025g0075
others(1): Show 
a0001c0002t0001g0045
a0001c0002t0001g0090
a0001c0002t0025g0075
a0001c0002t0067g0076
 4 HG01070.hp1
HG01168.hp1
HG01978.hp1
others(1): Show 
HG01070.hp1
HG01168.hp1
HG01978.hp1
HG02738.hp1
 intron_variant MODIFIER c.1557-509C>G
c.1557-509C>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 14/21 chr17 561082
chr17:561139 CAT
CAT
 C
C
 5 a0001c0001t0088g0152
a0003c0004t0006g0022
a0003c0004t0006g0023
others(2): Show 
a0001c0001t0088g0152
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
 5 HG01884.hp1
NA18950.hp2
NA18959.hp1
others(2): Show 
HG01884.hp1
NA18950.hp2
NA18959.hp1
NA18977.hp1
NA18986.hp2
 intron_variant MODIFIER c.1557-568_1557-567d
others(4): Show 
c.1557-568_1557-567delAT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 14/21 chr17 561139
chr17:561592 G
G
 A
A
 90 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(87): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0017g0158
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0032g0114
a0001c0001t0032g0204
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0034g0126
a0001c0001t0034g0162
a0001c0001t0069g0012
a0001c0001t0084g0046
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0097g0199
a0001c0001t0098g0147
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0105g0201
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0108g0148
a0001c0001t0110g0127
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0118g0195
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0122g0160
a0001c0001t0123g0123
a0001c0001t0127g0159
a0001c0001t0128g0132
a0001c0001t0134g0154
a0001c0001t0138g0161
a0001c0001t0141g0165
a0001c0002t0049g0048
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0001c0015t0126g0149
a0001c0016t0052g0099
a0002c0010t0038g0156
a0006c0012t0129g0140
a0007c0013t0132g0163
 90 HG00099.hp2
HG00280.hp2
HG00423.hp2
others(87): Show 
HG00099.hp2
HG00280.hp2
HG00423.hp2
HG00741.hp1
HG00741.hp2
HG01081.hp2
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01346.hp2
HG01361.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp2
HG01978.hp2
HG01981.hp2
HG02040.hp2
HG02056.hp2
HG02083.hp2
HG02109.hp2
HG02129.hp2
HG02132.hp2
HG02145.hp2
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02572.hp2
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02723.hp1
HG02723.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03688.hp1
HG03688.hp2
HG04184.hp2
HG04199.hp2
HG04204.hp1
NA18940.hp2
NA18945.hp2
NA18948.hp1
NA18950.hp1
NA18961.hp1
NA18967.hp2
NA18978.hp2
NA18983.hp2
NA18987.hp2
NA19009.hp2
NA19060.hp2
NA19065.hp2
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19079.hp2
NA19081.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA21309.hp1
 intron_variant MODIFIER c.1556+911C>T
c.1556+911C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 14/21 chr17 561592
chr17:561722 C
C
 T
T
 12 a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
others(9): Show 
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0016t0052g0099
a0002c0010t0038g0156
 12 HG00099.hp2
HG00280.hp2
HG01099.hp2
others(9): Show 
HG00099.hp2
HG00280.hp2
HG01099.hp2
HG01168.hp2
HG01175.hp1
HG01515.hp2
HG01981.hp2
HG03491.hp1
HG03492.hp1
HG03688.hp1
NA18948.hp1
NA21309.hp1
 intron_variant MODIFIER c.1556+781G>A
c.1556+781G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 14/21 chr17 561722
chr17:561832 A
A
 G
G
 1 a0001c0006t0057g0103
a0001c0006t0057g0103
 1 HG00280.hp2
HG00280.hp2
 intron_variant MODIFIER c.1556+671T>C
c.1556+671T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 14/21 chr17 561832
chr17:562093 C
C
 T
T
 14 a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
others(11): Show 
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0097g0199
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0105g0201
a0001c0001t0118g0195
a0001c0001t0134g0154
 14 HG01109.hp2
HG01346.hp2
HG01884.hp1
others(11): Show 
HG01109.hp2
HG01346.hp2
HG01884.hp1
HG01891.hp2
HG02572.hp2
HG02622.hp1
HG02622.hp2
HG02723.hp2
HG02818.hp1
HG02922.hp2
HG03139.hp1
HG03139.hp2
NA20129.hp2
NA20300.hp1
 intron_variant MODIFIER c.1556+410G>A
c.1556+410G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 14/21 chr17 562093
chr17:562206 C
C
 T
T
 1 a0004c0008t0142g0228
a0004c0008t0142g0228
 1 NA19066.hp1
NA19066.hp1
 intron_variant MODIFIER c.1556+297G>A
c.1556+297G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 14/21 chr17 562206
chr17:562274 T
T
 C
C
 1 a0002c0003t0099g0192
a0002c0003t0099g0192
 1 HG00438.hp2
HG00438.hp2
 intron_variant MODIFIER c.1556+229A>G
c.1556+229A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 14/21 chr17 562274
chr17:562500 C
C
 T
T
 10 a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
others(7): Show 
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
 10 HG02135.hp2
HG02602.hp1
NA18747.hp1
others(7): Show 
HG02135.hp2
HG02602.hp1
NA18747.hp1
NA18955.hp2
NA18960.hp2
NA18994.hp2
NA19000.hp2
NA19010.hp2
NA19087.hp1
NA19091.hp1
 splice_region_variant&intron_variant LOW c.1556+3G>A
c.1556+3G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 14/21 chr17 562500
chr17:562753 G
G
 GA
GA
 15 a0001c0001t0015g0131
a0001c0001t0016g0118
a0001c0002t0049g0048
others(12): Show 
a0001c0001t0015g0131
a0001c0001t0016g0118
a0001c0002t0049g0048
a0001c0002t0086g0221
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0016t0052g0099
 15 HG00099.hp2
HG00280.hp2
HG01099.hp2
others(12): Show 
HG00099.hp2
HG00280.hp2
HG01099.hp2
HG01168.hp2
HG01175.hp1
HG01515.hp2
HG01981.hp2
HG02145.hp1
HG02145.hp2
HG03491.hp1
HG03492.hp1
HG03688.hp1
NA18948.hp1
NA18967.hp2
NA19060.hp2
 intron_variant MODIFIER c.1314-9dupT
c.1314-9dupT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 562753
chr17:562879 G
G
 A
A
 14 a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
others(11): Show 
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0097g0199
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0105g0201
a0001c0001t0118g0195
a0001c0001t0134g0154
 14 HG01109.hp2
HG01346.hp2
HG01884.hp1
others(11): Show 
HG01109.hp2
HG01346.hp2
HG01884.hp1
HG01891.hp2
HG02572.hp2
HG02622.hp1
HG02622.hp2
HG02723.hp2
HG02818.hp1
HG02922.hp2
HG03139.hp1
HG03139.hp2
NA20129.hp2
NA20300.hp1
 intron_variant MODIFIER c.1314-134C>T
c.1314-134C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 562879
chr17:562970 T
T
 C
C
 2 a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0030g0119
a0001c0001t0030g0120
 2 HG01884.hp2
HG02280.hp2
HG01884.hp2
HG02280.hp2
 intron_variant MODIFIER c.1314-225A>G
c.1314-225A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 562970
chr17:563069 G
G
 T
T
 1 a0003c0004t0003g0015
a0003c0004t0003g0015
 1 HG01257.hp2
HG01257.hp2
 intron_variant MODIFIER c.1314-324C>A
c.1314-324C>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 563069
chr17:563231 G
G
 C
C
 43 a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
others(40): Show 
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0078g0041
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0002c0003t0073g0068
 43 HG00140.hp2
HG00280.hp1
HG00323.hp1
others(40): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp1
HG00621.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01106.hp1
HG01167.hp2
HG01168.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01361.hp1
HG01496.hp1
HG01978.hp1
HG02135.hp1
HG02738.hp1
HG02886.hp1
HG03516.hp2
HG04204.hp2
NA18906.hp2
NA18940.hp1
NA18944.hp1
NA18946.hp2
NA18948.hp2
NA18959.hp2
NA18960.hp1
NA18962.hp2
NA18967.hp1
NA18973.hp1
NA18977.hp2
NA18979.hp1
NA19007.hp1
NA19009.hp1
NA19065.hp1
NA19070.hp1
NA19079.hp1
NA19084.hp1
NA19090.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1314-486C>G
c.1314-486C>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 563231
chr17:563287 C
C
 CT
CT
 20 a0001c0001t0002g0121
a0001c0001t0002g0137
a0001c0001t0011g0013
others(17): Show 
a0001c0001t0002g0121
a0001c0001t0002g0137
a0001c0001t0011g0013
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0017g0158
a0001c0001t0033g0206
a0001c0001t0034g0162
a0001c0001t0102g0220
a0001c0001t0105g0201
a0001c0001t0113g0122
a0001c0001t0128g0132
a0001c0002t0125g0116
a0001c0006t0001g0113
a0001c0006t0041g0001
a0001c0007t0011g0106
a0001c0007t0070g0112
a0003c0004t0056g0020
a0003c0004t0071g0037
a0004c0008t0035g0203
 20 HG00741.hp1
HG00741.hp2
HG01106.hp2
others(17): Show 
HG00741.hp1
HG00741.hp2
HG01106.hp2
HG01109.hp2
HG01175.hp1
HG01175.hp2
HG01361.hp2
HG01515.hp1
HG02056.hp2
HG02572.hp2
HG03225.hp1
HG03688.hp1
HG04184.hp1
NA18906.hp1
NA18967.hp2
NA18983.hp2
NA19007.hp2
NA19009.hp2
NA19068.hp2
NA19080.hp1
 intron_variant MODIFIER c.1314-543dupA
c.1314-543dupA
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 563287
chr17:563287 CT
CT
 C
C
 43 a0001c0001t0084g0046
a0001c0001t0096g0146
a0001c0002t0001g0066
others(40): Show 
a0001c0001t0084g0046
a0001c0001t0096g0146
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0094
a0001c0002t0005g0065
a0001c0002t0013g0078
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0005t0010g0008
a0001c0005t0020g0010
a0001c0005t0044g0096
a0001c0005t0046g0011
a0001c0011t0051g0091
a0001c0014t0135g0166
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0017g0179
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0027g0181
a0002c0003t0036g0176
a0002c0003t0037g0168
a0002c0003t0085g0184
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0104g0208
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0145g0187
a0002c0003t0150g0191
a0002c0010t0038g0156
a0005c0009t0147g0177
 43 HG00140.hp2
HG00280.hp1
HG00323.hp1
others(40): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp1
HG00323.hp2
HG00621.hp1
HG01070.hp2
HG01071.hp1
HG01074.hp2
HG01099.hp1
HG01167.hp1
HG01928.hp1
HG01981.hp1
HG02040.hp1
HG02083.hp1
HG02129.hp1
HG02132.hp1
HG02293.hp1
HG02300.hp1
HG02572.hp1
HG02738.hp2
HG03225.hp2
HG03491.hp2
HG03516.hp1
HG03831.hp1
HG04199.hp1
HG04204.hp2
NA18612.hp1
NA18747.hp1
NA18747.hp2
NA18948.hp2
NA18957.hp2
NA18960.hp2
NA18983.hp1
NA18984.hp2
NA18987.hp1
NA18994.hp2
NA19010.hp1
NA19064.hp2
NA19066.hp2
NA19074.hp1
NA19084.hp2
NA19091.hp1
NA21309.hp1
 intron_variant MODIFIER c.1314-543delA
c.1314-543delA
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 563287
chr17:563287 CTTTTTTT
others(1): Show 
CTTTTTTTT
 C
C
 35 a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0082
others(32): Show 
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0049g0048
a0001c0002t0058g0052
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0079g0086
a0001c0002t0082g0069
 35 HG01070.hp1
HG01071.hp2
HG01074.hp1
others(32): Show 
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01106.hp1
HG01167.hp2
HG01168.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01361.hp1
HG01496.hp1
HG01978.hp1
HG02135.hp1
HG02145.hp2
HG02738.hp1
HG02886.hp1
NA18940.hp1
NA18944.hp1
NA18946.hp2
NA18959.hp2
NA18960.hp1
NA18962.hp2
NA18967.hp1
NA18973.hp1
NA18977.hp2
NA18979.hp1
NA19007.hp1
NA19009.hp1
NA19065.hp1
NA19070.hp1
NA19084.hp1
NA19090.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1314-550_1314-543d
others(10): Show 
c.1314-550_1314-543delAAAAAAAA
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 563287
chr17:563287 CTTTTTTT
others(6): Show 
CTTTTTTTTTTTTT
 C
C
 6 a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
others(3): Show 
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0059g0029
a0003c0004t0061g0031
a0003c0004t0063g0034
 6 NA18945.hp1
NA18978.hp1
NA19060.hp1
others(3): Show 
NA18945.hp1
NA18978.hp1
NA19060.hp1
NA19064.hp1
NA19081.hp1
NA19091.hp2
 intron_variant MODIFIER c.1314-555_1314-543d
others(15): Show 
c.1314-555_1314-543delAAAAAAAAAAAAA
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 563287
chr17:563358 T
T
 C
C
 100 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(97): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0017g0158
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0032g0114
a0001c0001t0032g0204
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0034g0126
a0001c0001t0034g0162
a0001c0001t0069g0012
a0001c0001t0084g0046
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0097g0199
a0001c0001t0098g0147
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0105g0201
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0108g0148
a0001c0001t0110g0127
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0118g0195
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0122g0160
a0001c0001t0123g0123
a0001c0001t0127g0159
a0001c0001t0128g0132
a0001c0001t0134g0154
a0001c0001t0138g0161
a0001c0001t0141g0165
a0001c0002t0049g0048
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0001c0015t0126g0149
a0001c0016t0052g0099
a0002c0010t0038g0156
a0006c0012t0129g0140
a0007c0013t0132g0163
 100 HG00099.hp2
HG00280.hp2
HG00423.hp2
others(97): Show 
HG00099.hp2
HG00280.hp2
HG00423.hp2
HG00741.hp1
HG00741.hp2
HG01081.hp2
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01346.hp2
HG01361.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp2
HG01978.hp2
HG01981.hp2
HG02040.hp2
HG02056.hp2
HG02083.hp2
HG02109.hp2
HG02129.hp2
HG02132.hp2
HG02135.hp2
HG02145.hp2
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02723.hp1
HG02723.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03688.hp1
HG03688.hp2
HG04184.hp2
HG04199.hp2
HG04204.hp1
NA18747.hp1
NA18940.hp2
NA18945.hp2
NA18948.hp1
NA18950.hp1
NA18955.hp2
NA18960.hp2
NA18961.hp1
NA18967.hp2
NA18978.hp2
NA18983.hp2
NA18987.hp2
NA18994.hp2
NA19000.hp2
NA19009.hp2
NA19010.hp2
NA19060.hp2
NA19065.hp2
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19079.hp2
NA19081.hp2
NA19087.hp1
NA19091.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA21309.hp1
 intron_variant MODIFIER c.1314-613A>G
c.1314-613A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 563358
chr17:563602 T
T
 G
G
 1 a0001c0001t0115g0136
a0001c0001t0115g0136
 1 HG03492.hp2
HG03492.hp2
 intron_variant MODIFIER c.1314-857A>C
c.1314-857A>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 563602
chr17:563681 C
C
 T
T
 1 a0001c0006t0001g0113
a0001c0006t0001g0113
 1 HG03688.hp1
HG03688.hp1
 intron_variant MODIFIER c.1314-936G>A
c.1314-936G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 563681
chr17:563820 C
C
 T
T
 1 a0007c0013t0132g0163
a0007c0013t0132g0163
 1 HG04204.hp1
HG04204.hp1
 intron_variant MODIFIER c.1314-1075G>A
c.1314-1075G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 563820
chr17:563916 A
A
 G
G
 1 a0002c0003t0009g0186
a0002c0003t0009g0186
 1 HG02040.hp1
HG02040.hp1
 intron_variant MODIFIER c.1314-1171T>C
c.1314-1171T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 563916
chr17:564041 G
G
 A
A
 4 a0001c0001t0032g0114
a0001c0001t0095g0145
a0001c0001t0096g0146
others(1): Show 
a0001c0001t0032g0114
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0098g0147
 4 HG02818.hp2
HG02895.hp1
HG03225.hp2
others(1): Show 
HG02818.hp2
HG02895.hp1
HG03225.hp2
NA20300.hp2
 intron_variant MODIFIER c.1314-1296C>T
c.1314-1296C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 564041
chr17:564118 G
G
 A
A
 84 a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
others(81): Show 
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0050g0049
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0078g0041
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0002t0086g0221
a0001c0014t0135g0166
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0017g0179
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0018g0231
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0073g0068
a0002c0003t0085g0184
a0002c0003t0089g0175
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0099g0192
a0002c0003t0104g0208
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0145g0187
a0002c0003t0146g0170
a0002c0003t0148g0174
a0002c0003t0150g0191
a0004c0008t0036g0207
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
 84 HG00140.hp2
HG00280.hp1
HG00323.hp1
others(81): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00438.hp2
HG00621.hp1
HG00621.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01099.hp1
HG01106.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01361.hp1
HG01496.hp1
HG01928.hp1
HG01978.hp1
HG01981.hp1
HG02040.hp1
HG02056.hp1
HG02074.hp2
HG02083.hp1
HG02129.hp1
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02280.hp1
HG02293.hp1
HG02300.hp1
HG02572.hp1
HG02738.hp1
HG02738.hp2
HG02886.hp1
HG03491.hp2
HG03516.hp2
HG03831.hp1
HG03942.hp1
HG04199.hp1
HG04204.hp2
NA18612.hp1
NA18906.hp2
NA18940.hp1
NA18944.hp1
NA18946.hp1
NA18946.hp2
NA18948.hp2
NA18955.hp1
NA18957.hp2
NA18959.hp2
NA18960.hp1
NA18962.hp2
NA18967.hp1
NA18973.hp1
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA19000.hp1
NA19007.hp1
NA19009.hp1
NA19010.hp1
NA19065.hp1
NA19066.hp2
NA19070.hp1
NA19074.hp1
NA19079.hp1
NA19080.hp2
NA19084.hp1
NA19084.hp2
NA19090.hp1
NA19090.hp2
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1314-1373C>T
c.1314-1373C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 564118
chr17:564167 G
G
 A
A
 1 a0002c0003t0145g0187
a0002c0003t0145g0187
 1 HG04199.hp1
HG04199.hp1
 intron_variant MODIFIER c.1314-1422C>T
c.1314-1422C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 564167
chr17:564297 T
T
 C
C
 1 a0001c0001t0084g0046
a0001c0001t0084g0046
 1 HG03516.hp1
HG03516.hp1
 intron_variant MODIFIER c.1314-1552A>G
c.1314-1552A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 564297
chr17:564345 C
C
 CCTGA
CCTGA
 104 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(101): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0017g0158
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0032g0114
a0001c0001t0032g0204
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0034g0126
a0001c0001t0034g0162
a0001c0001t0069g0012
a0001c0001t0084g0046
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0097g0199
a0001c0001t0098g0147
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0105g0201
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0108g0148
a0001c0001t0110g0127
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0118g0195
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0122g0160
a0001c0001t0123g0123
a0001c0001t0127g0159
a0001c0001t0128g0132
a0001c0001t0134g0154
a0001c0001t0138g0161
a0001c0001t0141g0165
a0001c0002t0001g0094
a0001c0002t0049g0048
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0001c0011t0051g0091
a0001c0015t0126g0149
a0001c0016t0052g0099
a0002c0010t0038g0156
a0006c0012t0129g0140
a0007c0013t0132g0163
 104 HG00099.hp2
HG00280.hp2
HG00423.hp2
others(101): Show 
HG00099.hp2
HG00280.hp2
HG00423.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp2
HG01081.hp2
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01346.hp2
HG01361.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp2
HG01978.hp2
HG01981.hp2
HG02040.hp2
HG02056.hp2
HG02083.hp2
HG02109.hp2
HG02129.hp2
HG02132.hp2
HG02135.hp2
HG02145.hp2
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02723.hp1
HG02723.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03688.hp1
HG03688.hp2
HG04184.hp2
HG04199.hp2
HG04204.hp1
NA18747.hp1
NA18747.hp2
NA18940.hp2
NA18945.hp2
NA18948.hp1
NA18950.hp1
NA18955.hp2
NA18960.hp2
NA18961.hp1
NA18967.hp2
NA18978.hp2
NA18983.hp2
NA18984.hp2
NA18987.hp2
NA18994.hp2
NA19000.hp2
NA19009.hp2
NA19010.hp2
NA19060.hp2
NA19064.hp2
NA19065.hp2
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19079.hp2
NA19081.hp2
NA19087.hp1
NA19091.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA21309.hp1
 intron_variant MODIFIER c.1314-1601_1314-160
others(8): Show 
c.1314-1601_1314-1600insTCAG
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 564345
chr17:564354 T
T
 G
G
 90 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(87): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0017g0158
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0032g0114
a0001c0001t0032g0204
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0034g0126
a0001c0001t0034g0162
a0001c0001t0069g0012
a0001c0001t0084g0046
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0097g0199
a0001c0001t0098g0147
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0105g0201
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0108g0148
a0001c0001t0110g0127
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0118g0195
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0122g0160
a0001c0001t0123g0123
a0001c0001t0127g0159
a0001c0001t0128g0132
a0001c0001t0134g0154
a0001c0001t0138g0161
a0001c0001t0141g0165
a0001c0002t0049g0048
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0001c0015t0126g0149
a0001c0016t0052g0099
a0002c0010t0038g0156
a0006c0012t0129g0140
a0007c0013t0132g0163
 90 HG00099.hp2
HG00280.hp2
HG00423.hp2
others(87): Show 
HG00099.hp2
HG00280.hp2
HG00423.hp2
HG00741.hp1
HG00741.hp2
HG01081.hp2
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01346.hp2
HG01361.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp2
HG01978.hp2
HG01981.hp2
HG02040.hp2
HG02056.hp2
HG02083.hp2
HG02109.hp2
HG02129.hp2
HG02132.hp2
HG02145.hp2
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02572.hp2
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02723.hp1
HG02723.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03688.hp1
HG03688.hp2
HG04184.hp2
HG04199.hp2
HG04204.hp1
NA18940.hp2
NA18945.hp2
NA18948.hp1
NA18950.hp1
NA18961.hp1
NA18967.hp2
NA18978.hp2
NA18983.hp2
NA18987.hp2
NA19009.hp2
NA19060.hp2
NA19065.hp2
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19079.hp2
NA19081.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA21309.hp1
 intron_variant MODIFIER c.1314-1609A>C
c.1314-1609A>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 564354
chr17:564505 C
C
 T
T
 1 a0002c0003t0009g0185
a0002c0003t0009g0185
 1 HG01928.hp1
HG01928.hp1
 intron_variant MODIFIER c.1314-1760G>A
c.1314-1760G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 564505
chr17:564534 T
T
 C
C
 4 a0002c0003t0018g0214
a0005c0009t0130g0178
a0005c0009t0137g0189
others(1): Show 
a0002c0003t0018g0214
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
 4 HG00621.hp1
NA18946.hp1
NA18955.hp1
others(1): Show 
HG00621.hp1
NA18946.hp1
NA18955.hp1
NA19066.hp2
 intron_variant MODIFIER c.1314-1789A>G
c.1314-1789A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 564534
chr17:564541 G
G
 GA
GA
 121 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(118): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0017g0158
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0032g0114
a0001c0001t0032g0204
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0034g0126
a0001c0001t0034g0162
a0001c0001t0069g0012
a0001c0001t0084g0046
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0097g0199
a0001c0001t0098g0147
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0105g0201
a0001c0001t0106g0117
a0001c0001t0108g0148
a0001c0001t0110g0127
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0113g0122
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0122g0160
a0001c0001t0123g0123
a0001c0001t0127g0159
a0001c0001t0128g0132
a0001c0001t0134g0154
a0001c0001t0138g0161
a0001c0001t0141g0165
a0001c0002t0049g0048
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0042g0044
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0074g0097
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0001c0015t0126g0149
a0001c0016t0052g0099
a0002c0003t0027g0169
a0002c0003t0150g0191
a0002c0010t0038g0156
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
a0004c0008t0124g0229
a0006c0012t0129g0140
a0007c0013t0132g0163
 121 HG00099.hp2
HG00280.hp2
HG00423.hp2
others(118): Show 
HG00099.hp2
HG00280.hp2
HG00423.hp2
HG00741.hp1
HG00741.hp2
HG01081.hp2
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01168.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp2
HG01361.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp2
HG02056.hp2
HG02074.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02132.hp2
HG02145.hp2
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02572.hp2
HG02602.hp1
HG02622.hp1
HG02622.hp2
HG02723.hp1
HG02723.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03688.hp1
HG03688.hp2
HG03831.hp2
HG04184.hp2
HG04199.hp2
HG04204.hp1
NA18612.hp2
NA18906.hp1
NA18940.hp2
NA18945.hp1
NA18945.hp2
NA18950.hp1
NA18950.hp2
NA18957.hp1
NA18959.hp1
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18967.hp2
NA18977.hp1
NA18978.hp2
NA18983.hp2
NA18984.hp1
NA18986.hp2
NA18987.hp2
NA18990.hp1
NA18990.hp2
NA18994.hp1
NA19000.hp1
NA19000.hp2
NA19009.hp2
NA19010.hp2
NA19011.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19065.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19079.hp2
NA19080.hp1
NA19081.hp1
NA19081.hp2
NA19087.hp1
NA19087.hp2
NA19091.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.1314-1797dupT
c.1314-1797dupT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 564541
chr17:564681 C
C
 A
A
 1 a0002c0003t0018g0172
a0002c0003t0018g0172
 1 HG02129.hp1
HG02129.hp1
 intron_variant MODIFIER c.1314-1936G>T
c.1314-1936G>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 564681
chr17:564717 T
T
 C
C
 217 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(214): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0017g0158
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0032g0114
a0001c0001t0032g0204
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0034g0126
a0001c0001t0034g0162
a0001c0001t0069g0012
a0001c0001t0084g0046
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0097g0199
a0001c0001t0098g0147
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0105g0201
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0108g0148
a0001c0001t0110g0127
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0118g0195
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0122g0160
a0001c0001t0123g0123
a0001c0001t0127g0159
a0001c0001t0128g0132
a0001c0001t0134g0154
a0001c0001t0138g0161
a0001c0001t0141g0165
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0001g0094
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0049g0048
a0001c0002t0050g0049
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0065g0093
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0077g0095
a0001c0002t0078g0041
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0001c0011t0051g0091
a0001c0014t0135g0166
a0001c0015t0126g0149
a0001c0016t0052g0099
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0017g0179
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0018g0231
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0073g0068
a0002c0003t0085g0184
a0002c0003t0089g0175
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0099g0192
a0002c0003t0104g0208
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0145g0187
a0002c0003t0146g0170
a0002c0003t0148g0174
a0002c0003t0150g0191
a0002c0010t0038g0156
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
a0004c0008t0036g0207
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
a0006c0012t0129g0140
a0007c0013t0132g0163
 217 HG00099.hp2
HG00140.hp2
HG00280.hp1
others(214): Show 
HG00099.hp2
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp2
HG00621.hp1
HG00621.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02056.hp1
HG02056.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18944.hp1
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18955.hp1
NA18955.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18967.hp1
NA18967.hp2
NA18973.hp1
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18990.hp1
NA18994.hp1
NA18994.hp2
NA19000.hp1
NA19000.hp2
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19087.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1314-1972A>G
c.1314-1972A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 564717
chr17:564719 GA
GA
 G
G
 10 a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
others(7): Show 
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0074g0097
a0001c0016t0052g0099
 10 HG00099.hp2
HG00280.hp2
HG01099.hp2
others(7): Show 
HG00099.hp2
HG00280.hp2
HG01099.hp2
HG01168.hp2
HG01175.hp1
HG01515.hp2
HG01981.hp2
HG03491.hp1
HG03492.hp1
HG03688.hp1
 intron_variant MODIFIER c.1314-1975delT
c.1314-1975delT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 564719
chr17:564846 T
T
 C
C
 1 a0001c0002t0049g0048
a0001c0002t0049g0048
 1 HG02145.hp2
HG02145.hp2
 intron_variant MODIFIER c.1314-2101A>G
c.1314-2101A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 564846
chr17:564949 G
G
 A
A
 1 a0001c0002t0143g0226
a0001c0002t0143g0226
 1 HG00140.hp1
HG00140.hp1
 intron_variant MODIFIER c.1314-2204C>T
c.1314-2204C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 564949
chr17:564952 T
T
 A
A
 43 a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
others(40): Show 
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0078g0041
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0002c0003t0073g0068
 43 HG00140.hp2
HG00280.hp1
HG00323.hp1
others(40): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp1
HG00621.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01106.hp1
HG01167.hp2
HG01168.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01361.hp1
HG01496.hp1
HG01978.hp1
HG02135.hp1
HG02738.hp1
HG02886.hp1
HG03516.hp2
HG04204.hp2
NA18906.hp2
NA18940.hp1
NA18944.hp1
NA18946.hp2
NA18948.hp2
NA18959.hp2
NA18960.hp1
NA18962.hp2
NA18967.hp1
NA18973.hp1
NA18977.hp2
NA18979.hp1
NA19007.hp1
NA19009.hp1
NA19065.hp1
NA19070.hp1
NA19079.hp1
NA19084.hp1
NA19090.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1314-2207A>T
c.1314-2207A>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 564952
chr17:565209 C
C
 A
A
 2 a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0079
a0001c0002t0001g0080
 2 HG00280.hp1
HG00323.hp1
HG00280.hp1
HG00323.hp1
 intron_variant MODIFIER c.1314-2464G>T
c.1314-2464G>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 565209
chr17:565335 G
G
 A
A
 4 a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
others(1): Show 
a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0011t0051g0091
 4 HG01074.hp2
NA18747.hp2
NA18984.hp2
others(1): Show 
HG01074.hp2
NA18747.hp2
NA18984.hp2
NA19064.hp2
 intron_variant MODIFIER c.1314-2590C>T
c.1314-2590C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 565335
chr17:565352 G
G
 A
A
 43 a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
others(40): Show 
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0078g0041
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0002c0003t0073g0068
 43 HG00140.hp2
HG00280.hp1
HG00323.hp1
others(40): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp1
HG00621.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01106.hp1
HG01167.hp2
HG01168.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01361.hp1
HG01496.hp1
HG01978.hp1
HG02135.hp1
HG02738.hp1
HG02886.hp1
HG03516.hp2
HG04204.hp2
NA18906.hp2
NA18940.hp1
NA18944.hp1
NA18946.hp2
NA18948.hp2
NA18959.hp2
NA18960.hp1
NA18962.hp2
NA18967.hp1
NA18973.hp1
NA18977.hp2
NA18979.hp1
NA19007.hp1
NA19009.hp1
NA19065.hp1
NA19070.hp1
NA19079.hp1
NA19084.hp1
NA19090.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1314-2607C>T
c.1314-2607C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 565352
chr17:565403 CA
CA
 C
C
 114 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(111): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0125
a0001c0001t0017g0158
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0032g0114
a0001c0001t0032g0204
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0034g0126
a0001c0001t0034g0162
a0001c0001t0069g0012
a0001c0001t0084g0046
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0098g0147
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0108g0148
a0001c0001t0110g0127
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0116g0138
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0122g0160
a0001c0001t0123g0123
a0001c0001t0127g0159
a0001c0001t0128g0132
a0001c0001t0138g0161
a0001c0001t0141g0165
a0001c0002t0001g0094
a0001c0002t0035g0219
a0001c0002t0038g0224
a0001c0002t0050g0049
a0001c0002t0055g0084
a0001c0002t0077g0095
a0001c0002t0078g0041
a0001c0002t0100g0223
a0001c0002t0109g0222
a0001c0002t0143g0226
a0001c0002t0149g0202
a0001c0006t0053g0102
a0001c0011t0051g0091
a0001c0014t0135g0166
a0001c0015t0126g0149
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0018g0231
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0085g0184
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0099g0192
a0002c0003t0104g0208
a0002c0003t0131g0193
a0002c0003t0145g0187
a0002c0003t0150g0191
a0002c0010t0038g0156
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0081g0035
a0004c0008t0035g0203
a0004c0008t0103g0227
a0004c0008t0124g0229
a0004c0008t0133g0232
a0004c0008t0142g0228
a0006c0012t0129g0140
a0007c0013t0132g0163
 114 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(111): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp2
HG01074.hp2
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01192.hp1
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01346.hp1
HG01361.hp2
HG01516.hp2
HG01517.hp1
HG01884.hp2
HG01891.hp1
HG01928.hp1
HG01981.hp1
HG02040.hp1
HG02040.hp2
HG02056.hp1
HG02056.hp2
HG02074.hp1
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02132.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02300.hp1
HG02572.hp1
HG02602.hp2
HG02723.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG03225.hp1
HG03225.hp2
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03688.hp2
HG03831.hp2
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
NA18612.hp1
NA18612.hp2
NA18747.hp2
NA18906.hp2
NA18940.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18950.hp1
NA18950.hp2
NA18959.hp1
NA18961.hp1
NA18961.hp2
NA18967.hp2
NA18973.hp2
NA18977.hp1
NA18978.hp1
NA18978.hp2
NA18983.hp2
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18990.hp1
NA18990.hp2
NA18994.hp1
NA19000.hp1
NA19009.hp2
NA19011.hp1
NA19011.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp2
NA19066.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19084.hp2
NA19087.hp2
NA19091.hp2
NA20129.hp1
NA20300.hp2
NA20805.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.1314-2659delT
c.1314-2659delT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 565403
chr17:565403 CAA
CAA
 C
C
 62 a0001c0001t0016g0124
a0001c0001t0028g0196
a0001c0001t0028g0197
others(59): Show 
a0001c0001t0016g0124
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0097g0199
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0105g0201
a0001c0001t0115g0136
a0001c0001t0118g0195
a0001c0001t0134g0154
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0049g0048
a0001c0002t0058g0052
a0001c0002t0065g0093
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0002c0003t0008g0217
a0002c0003t0073g0068
a0003c0004t0003g0015
a0003c0004t0004g0014
a0003c0004t0004g0040
 62 HG00140.hp2
HG00280.hp1
HG00323.hp1
others(59): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp1
HG00621.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01099.hp1
HG01106.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01255.hp1
HG01256.hp1
HG01257.hp2
HG01258.hp1
HG01346.hp2
HG01361.hp1
HG01496.hp1
HG01884.hp1
HG01891.hp2
HG01978.hp1
HG02135.hp1
HG02145.hp2
HG02572.hp2
HG02622.hp1
HG02622.hp2
HG02723.hp2
HG02738.hp1
HG02818.hp1
HG02886.hp1
HG02922.hp2
HG03139.hp1
HG03139.hp2
HG03492.hp2
HG04204.hp2
NA18940.hp1
NA18944.hp1
NA18946.hp2
NA18948.hp2
NA18957.hp1
NA18959.hp2
NA18962.hp2
NA18967.hp1
NA18973.hp1
NA18977.hp2
NA18979.hp1
NA18984.hp1
NA18984.hp2
NA19007.hp1
NA19009.hp1
NA19065.hp1
NA19068.hp2
NA19070.hp1
NA19079.hp1
NA19084.hp1
NA19090.hp1
NA20129.hp2
NA20300.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1314-2660_1314-265
others(6): Show 
c.1314-2660_1314-2659delTT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 565403
chr17:565423 A
A
 G
G
 79 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(76): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0017g0158
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0032g0114
a0001c0001t0032g0204
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0034g0126
a0001c0001t0034g0162
a0001c0001t0069g0012
a0001c0001t0084g0046
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0097g0199
a0001c0001t0098g0147
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0105g0201
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0108g0148
a0001c0001t0110g0127
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0118g0195
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0122g0160
a0001c0001t0123g0123
a0001c0001t0127g0159
a0001c0001t0128g0132
a0001c0001t0134g0154
a0001c0001t0138g0161
a0001c0001t0141g0165
a0001c0002t0049g0048
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0001c0015t0126g0149
a0002c0010t0038g0156
a0006c0012t0129g0140
a0007c0013t0132g0163
 79 HG00423.hp2
HG00741.hp1
HG00741.hp2
others(76): Show 
HG00423.hp2
HG00741.hp1
HG00741.hp2
HG01081.hp2
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01346.hp2
HG01361.hp2
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp2
HG01978.hp2
HG02040.hp2
HG02056.hp2
HG02083.hp2
HG02109.hp2
HG02129.hp2
HG02132.hp2
HG02145.hp2
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02572.hp2
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02723.hp1
HG02723.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03492.hp2
HG03516.hp1
HG03688.hp2
HG04184.hp2
HG04199.hp2
HG04204.hp1
NA18940.hp2
NA18945.hp2
NA18950.hp1
NA18961.hp1
NA18967.hp2
NA18978.hp2
NA18983.hp2
NA18987.hp2
NA19009.hp2
NA19060.hp2
NA19065.hp2
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19079.hp2
NA19081.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA21309.hp1
 intron_variant MODIFIER c.1314-2678T>C
c.1314-2678T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 565423
chr17:565673 C
C
 A
A
 1 a0001c0002t0050g0049
a0001c0002t0050g0049
 1 HG02280.hp1
HG02280.hp1
 intron_variant MODIFIER c.1314-2928G>T
c.1314-2928G>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 565673
chr17:565697 C
C
 G
G
 10 a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
others(7): Show 
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
 10 HG02135.hp2
HG02602.hp1
NA18747.hp1
others(7): Show 
HG02135.hp2
HG02602.hp1
NA18747.hp1
NA18955.hp2
NA18960.hp2
NA18994.hp2
NA19000.hp2
NA19010.hp2
NA19087.hp1
NA19091.hp1
 intron_variant MODIFIER c.1314-2952G>C
c.1314-2952G>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 565697
chr17:565697 C
C
 T
T
 14 a0001c0001t0017g0158
a0001c0001t0032g0204
a0001c0001t0033g0205
others(11): Show 
a0001c0001t0017g0158
a0001c0001t0032g0204
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0034g0162
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0122g0160
a0001c0001t0127g0159
a0001c0001t0138g0161
a0001c0001t0141g0165
a0001c0015t0126g0149
a0002c0010t0038g0156
a0007c0013t0132g0163
 14 HG00741.hp1
HG01106.hp2
HG01109.hp1
others(11): Show 
HG00741.hp1
HG01106.hp2
HG01109.hp1
HG01257.hp1
HG01258.hp2
HG01891.hp1
HG02723.hp1
HG02886.hp2
HG02895.hp2
HG02922.hp1
HG03225.hp1
HG04204.hp1
NA20129.hp1
NA21309.hp1
 intron_variant MODIFIER c.1314-2952G>A
c.1314-2952G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 565697
chr17:565699 C
C
 T
T
 1 a0003c0004t0005g0028
a0003c0004t0005g0028
 1 NA18945.hp1
NA18945.hp1
 intron_variant MODIFIER c.1314-2954G>A
c.1314-2954G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 565699
chr17:565705 G
G
 C
C
 134 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(131): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0017g0158
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0032g0114
a0001c0001t0032g0204
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0034g0126
a0001c0001t0034g0162
a0001c0001t0069g0012
a0001c0001t0084g0046
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0097g0199
a0001c0001t0098g0147
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0105g0201
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0108g0148
a0001c0001t0110g0127
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0118g0195
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0122g0160
a0001c0001t0123g0123
a0001c0001t0127g0159
a0001c0001t0128g0132
a0001c0001t0134g0154
a0001c0001t0138g0161
a0001c0001t0141g0165
a0001c0002t0001g0094
a0001c0002t0049g0048
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0001c0011t0051g0091
a0001c0015t0126g0149
a0001c0016t0052g0099
a0002c0010t0038g0156
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
a0006c0012t0129g0140
a0007c0013t0132g0163
 134 HG00099.hp2
HG00280.hp2
HG00423.hp2
others(131): Show 
HG00099.hp2
HG00280.hp2
HG00423.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp2
HG01081.hp2
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp2
HG01346.hp2
HG01361.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp2
HG01978.hp2
HG01981.hp2
HG02040.hp2
HG02056.hp2
HG02074.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02132.hp2
HG02135.hp2
HG02145.hp2
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02723.hp1
HG02723.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03688.hp1
HG03688.hp2
HG03831.hp2
HG04184.hp2
HG04199.hp2
HG04204.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18940.hp2
NA18945.hp1
NA18945.hp2
NA18948.hp1
NA18950.hp1
NA18950.hp2
NA18955.hp2
NA18957.hp1
NA18959.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18967.hp2
NA18977.hp1
NA18978.hp1
NA18978.hp2
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18986.hp2
NA18987.hp2
NA18990.hp1
NA18994.hp1
NA18994.hp2
NA19000.hp2
NA19009.hp2
NA19010.hp2
NA19011.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19079.hp2
NA19080.hp1
NA19081.hp1
NA19081.hp2
NA19087.hp1
NA19087.hp2
NA19091.hp1
NA19091.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.1314-2960C>G
c.1314-2960C>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 565705
chr17:565874 A
A
 G
G
 1 a0001c0006t0041g0001
a0001c0006t0041g0001
 1 HG01175.hp1
HG01175.hp1
 intron_variant MODIFIER c.1314-3129T>C
c.1314-3129T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 565874
chr17:565886 G
G
 C
C
 2 a0003c0004t0022g0004
a0003c0004t0054g0032
a0003c0004t0022g0004
a0003c0004t0054g0032
 2 NA18961.hp2
NA19087.hp2
NA18961.hp2
NA19087.hp2
 intron_variant MODIFIER c.1314-3141C>G
c.1314-3141C>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 565886
chr17:565922 G
G
 A
A
 1 a0001c0002t0001g0066
a0001c0002t0001g0066
 1 HG04204.hp2
HG04204.hp2
 intron_variant MODIFIER c.1314-3177C>T
c.1314-3177C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 565922
chr17:565986 G
G
 A
A
 1 a0001c0002t0058g0052
a0001c0002t0058g0052
 1 NA18979.hp1
NA18979.hp1
 intron_variant MODIFIER c.1314-3241C>T
c.1314-3241C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 565986
chr17:566203 C
C
 CA
CA
 23 a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
others(20): Show 
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0097g0199
a0001c0001t0101g0200
a0001c0001t0105g0201
a0001c0001t0118g0195
a0001c0001t0119g0144
a0001c0001t0134g0154
a0001c0002t0010g0057
a0001c0005t0019g0006
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0080g0092
a0001c0006t0041g0001
a0002c0003t0027g0169
a0002c0003t0085g0184
a0003c0004t0025g0038
a0007c0013t0132g0163
 23 HG01109.hp2
HG01175.hp1
HG01346.hp2
others(20): Show 
HG01109.hp2
HG01175.hp1
HG01346.hp2
HG01884.hp1
HG01891.hp2
HG02135.hp2
HG02622.hp1
HG02622.hp2
HG02818.hp1
HG02922.hp2
HG03139.hp1
HG03139.hp2
HG03491.hp2
HG04204.hp1
NA18955.hp2
NA18960.hp2
NA18987.hp2
NA19000.hp1
NA19009.hp1
NA19010.hp2
NA19068.hp1
NA20129.hp2
NA20300.hp1
 intron_variant MODIFIER c.1314-3459dupT
c.1314-3459dupT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 566203
chr17:566269 G
G
 A
A
 1 a0004c0008t0133g0232
a0004c0008t0133g0232
 1 NA19011.hp1
NA19011.hp1
 intron_variant MODIFIER c.1314-3524C>T
c.1314-3524C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 566269
chr17:566272 A
A
 C
C
 1 a0001c0002t0010g0057
a0001c0002t0010g0057
 1 NA19009.hp1
NA19009.hp1
 intron_variant MODIFIER c.1314-3527T>G
c.1314-3527T>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 566272
chr17:566414 A
A
 T
T
 4 a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
others(1): Show 
a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0011t0051g0091
 4 HG01074.hp2
NA18747.hp2
NA18984.hp2
others(1): Show 
HG01074.hp2
NA18747.hp2
NA18984.hp2
NA19064.hp2
 intron_variant MODIFIER c.1314-3669T>A
c.1314-3669T>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 566414
chr17:566503 A
A
 C
C
 1 a0001c0002t0010g0087
a0001c0002t0010g0087
 1 NA19084.hp1
NA19084.hp1
 intron_variant MODIFIER c.1314-3758T>G
c.1314-3758T>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 566503
chr17:566607 TGGA
TGGA
 T
T
 8 a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
others(5): Show 
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0104g0208
a0002c0003t0150g0191
 8 HG01099.hp1
HG01981.hp1
HG02083.hp1
others(5): Show 
HG01099.hp1
HG01981.hp1
HG02083.hp1
HG02293.hp1
HG02300.hp1
NA18612.hp1
NA18987.hp1
NA19010.hp1
 intron_variant MODIFIER c.1314-3865_1314-386
others(7): Show 
c.1314-3865_1314-3863delTCC
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 566607
chr17:566661 A
A
 G
G
 2 a0001c0001t0087g0198
a0001c0001t0105g0201
a0001c0001t0087g0198
a0001c0001t0105g0201
 2 HG01109.hp2
HG02818.hp1
HG01109.hp2
HG02818.hp1
 intron_variant MODIFIER c.1314-3916T>C
c.1314-3916T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 566661
chr17:566685 C
C
 A
A
 1 a0001c0002t0005g0065
a0001c0002t0005g0065
 1 NA18948.hp2
NA18948.hp2
 intron_variant MODIFIER c.1314-3940G>T
c.1314-3940G>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 566685
chr17:566729 G
G
 GT
GT
 11 a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
others(8): Show 
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0003c0004t0061g0031
 11 HG02135.hp2
HG02602.hp1
NA18747.hp1
others(8): Show 
HG02135.hp2
HG02602.hp1
NA18747.hp1
NA18955.hp2
NA18960.hp2
NA18978.hp1
NA18994.hp2
NA19000.hp2
NA19010.hp2
NA19087.hp1
NA19091.hp1
 intron_variant MODIFIER c.1314-3985dupA
c.1314-3985dupA
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 566729
chr17:566837 G
G
 A
A
 1 a0001c0006t0053g0102
a0001c0006t0053g0102
 1 HG00099.hp2
HG00099.hp2
 intron_variant MODIFIER c.1314-4092C>T
c.1314-4092C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 566837
chr17:566886 G
G
 A
A
 1 a0001c0002t0049g0048
a0001c0002t0049g0048
 1 HG02145.hp2
HG02145.hp2
 intron_variant MODIFIER c.1314-4141C>T
c.1314-4141C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 566886
chr17:566893 A
A
 G
G
 30 a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
others(27): Show 
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
 30 HG01257.hp2
HG01516.hp2
HG01517.hp1
others(27): Show 
HG01257.hp2
HG01516.hp2
HG01517.hp1
HG02074.hp1
HG02109.hp1
HG03831.hp2
NA18612.hp2
NA18906.hp1
NA18945.hp1
NA18950.hp2
NA18957.hp1
NA18959.hp1
NA18961.hp2
NA18962.hp1
NA18977.hp1
NA18978.hp1
NA18984.hp1
NA18986.hp2
NA18990.hp1
NA18994.hp1
NA19011.hp2
NA19060.hp1
NA19064.hp1
NA19068.hp1
NA19080.hp1
NA19081.hp1
NA19087.hp2
NA19091.hp2
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.1314-4148T>C
c.1314-4148T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 566893
chr17:567074 A
A
 C
C
 176 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(173): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0017g0158
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0032g0114
a0001c0001t0032g0204
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0034g0126
a0001c0001t0034g0162
a0001c0001t0069g0012
a0001c0001t0084g0046
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0097g0199
a0001c0001t0098g0147
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0105g0201
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0108g0148
a0001c0001t0110g0127
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0118g0195
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0122g0160
a0001c0001t0123g0123
a0001c0001t0127g0159
a0001c0001t0128g0132
a0001c0001t0134g0154
a0001c0001t0138g0161
a0001c0001t0141g0165
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0001g0094
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0049g0048
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0065g0093
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0077g0095
a0001c0002t0078g0041
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0001c0011t0051g0091
a0001c0016t0052g0099
a0002c0003t0073g0068
a0002c0010t0038g0156
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
a0006c0012t0129g0140
a0007c0013t0132g0163
 176 HG00099.hp2
HG00140.hp2
HG00280.hp1
others(173): Show 
HG00099.hp2
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00423.hp2
HG00621.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp2
HG02040.hp2
HG02056.hp2
HG02074.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp2
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02723.hp2
HG02738.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp2
HG04184.hp2
HG04199.hp2
HG04204.hp1
HG04204.hp2
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18944.hp1
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18955.hp2
NA18957.hp1
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18967.hp1
NA18967.hp2
NA18973.hp1
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18986.hp2
NA18987.hp2
NA18990.hp1
NA18994.hp1
NA18994.hp2
NA19000.hp2
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19011.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19081.hp1
NA19081.hp2
NA19084.hp1
NA19087.hp1
NA19087.hp2
NA19090.hp1
NA19091.hp1
NA19091.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1314-4329T>G
c.1314-4329T>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 567074
chr17:567093 T
T
 C
C
 11 a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
others(8): Show 
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0016t0052g0099
 11 HG00099.hp2
HG00280.hp2
HG01099.hp2
others(8): Show 
HG00099.hp2
HG00280.hp2
HG01099.hp2
HG01168.hp2
HG01175.hp1
HG01515.hp2
HG01981.hp2
HG03491.hp1
HG03492.hp1
HG03688.hp1
NA18948.hp1
 intron_variant MODIFIER c.1314-4348A>G
c.1314-4348A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 567093
chr17:567482 A
A
 T
T
 11 a0001c0001t0115g0136
a0001c0001t0117g0230
a0001c0007t0011g0105
others(8): Show 
a0001c0001t0115g0136
a0001c0001t0117g0230
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
 11 HG01081.hp2
HG01175.hp2
HG01192.hp2
others(8): Show 
HG01081.hp2
HG01175.hp2
HG01192.hp2
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01928.hp2
HG01978.hp2
HG02293.hp2
HG02300.hp2
HG03492.hp2
 intron_variant MODIFIER c.1314-4737T>A
c.1314-4737T>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 567482
chr17:567504 C
C
 CT
CT
 6 a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
others(3): Show 
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0059g0029
a0003c0004t0061g0031
a0003c0004t0063g0034
 6 NA18945.hp1
NA18978.hp1
NA19060.hp1
others(3): Show 
NA18945.hp1
NA18978.hp1
NA19060.hp1
NA19064.hp1
NA19081.hp1
NA19091.hp2
 intron_variant MODIFIER c.1314-4760dupA
c.1314-4760dupA
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 567504
chr17:567504 CT
CT
 C
C
 101 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(98): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0017g0158
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0032g0114
a0001c0001t0032g0204
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0034g0126
a0001c0001t0034g0162
a0001c0001t0069g0012
a0001c0001t0084g0046
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0097g0199
a0001c0001t0098g0147
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0105g0201
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0108g0148
a0001c0001t0110g0127
a0001c0001t0112g0157
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0118g0195
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0122g0160
a0001c0001t0123g0123
a0001c0001t0127g0159
a0001c0001t0128g0132
a0001c0001t0134g0154
a0001c0001t0138g0161
a0001c0001t0141g0165
a0001c0002t0001g0094
a0001c0002t0049g0048
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0001c0011t0051g0091
a0001c0016t0052g0099
a0002c0010t0038g0156
a0006c0012t0129g0140
a0007c0013t0132g0163
 101 HG00099.hp2
HG00280.hp2
HG00423.hp2
others(98): Show 
HG00099.hp2
HG00280.hp2
HG00423.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp2
HG01081.hp2
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01346.hp2
HG01361.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp2
HG01978.hp2
HG01981.hp2
HG02040.hp2
HG02056.hp2
HG02083.hp2
HG02109.hp2
HG02129.hp2
HG02132.hp2
HG02135.hp2
HG02145.hp2
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02723.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02922.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03688.hp1
HG03688.hp2
HG04184.hp2
HG04199.hp2
HG04204.hp1
NA18747.hp1
NA18747.hp2
NA18940.hp2
NA18945.hp2
NA18948.hp1
NA18950.hp1
NA18955.hp2
NA18960.hp2
NA18961.hp1
NA18978.hp2
NA18983.hp2
NA18984.hp2
NA18987.hp2
NA18994.hp2
NA19000.hp2
NA19009.hp2
NA19010.hp2
NA19060.hp2
NA19064.hp2
NA19065.hp2
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19079.hp2
NA19081.hp2
NA19087.hp1
NA19091.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA21309.hp1
 intron_variant MODIFIER c.1314-4760delA
c.1314-4760delA
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 567504
chr17:567665 TAGG
TAGG
 T
T
 3 a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0013g0078
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0013g0078
 3 HG00140.hp2
HG00280.hp1
HG00323.hp1
HG00140.hp2
HG00280.hp1
HG00323.hp1
 intron_variant MODIFIER c.1314-4923_1314-492
others(7): Show 
c.1314-4923_1314-4921delCCT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 567665
chr17:567721 C
C
 G
G
 50 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(47): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0032g0114
a0001c0001t0034g0126
a0001c0001t0069g0012
a0001c0001t0084g0046
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0098g0147
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0108g0148
a0001c0001t0110g0127
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0123g0123
a0001c0001t0128g0132
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0006c0012t0129g0140
 50 HG00423.hp2
HG00741.hp2
HG01081.hp2
others(47): Show 
HG00423.hp2
HG00741.hp2
HG01081.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp2
HG01361.hp2
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp2
HG01928.hp2
HG01978.hp2
HG02040.hp2
HG02056.hp2
HG02083.hp2
HG02109.hp2
HG02129.hp2
HG02132.hp2
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02602.hp2
HG02818.hp2
HG02895.hp1
HG03225.hp2
HG03492.hp2
HG03516.hp1
HG03688.hp2
HG04184.hp2
HG04199.hp2
NA18940.hp2
NA18945.hp2
NA18950.hp1
NA18961.hp1
NA18967.hp2
NA18978.hp2
NA18983.hp2
NA18987.hp2
NA19009.hp2
NA19060.hp2
NA19065.hp2
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19079.hp2
NA19081.hp2
NA20300.hp2
 intron_variant MODIFIER c.1314-4976G>C
c.1314-4976G>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 567721
chr17:567787 G
G
 A
A
 6 a0001c0001t0017g0158
a0001c0001t0034g0162
a0001c0001t0122g0160
others(3): Show 
a0001c0001t0017g0158
a0001c0001t0034g0162
a0001c0001t0122g0160
a0001c0001t0138g0161
a0001c0001t0141g0165
a0007c0013t0132g0163
 6 HG00741.hp1
HG01106.hp2
HG01109.hp1
others(3): Show 
HG00741.hp1
HG01106.hp2
HG01109.hp1
HG01257.hp1
HG01258.hp2
HG04204.hp1
 intron_variant MODIFIER c.1314-5042C>T
c.1314-5042C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 567787
chr17:567878 G
G
 T
T
 10 a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
others(7): Show 
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
 10 HG02135.hp2
HG02602.hp1
NA18747.hp1
others(7): Show 
HG02135.hp2
HG02602.hp1
NA18747.hp1
NA18955.hp2
NA18960.hp2
NA18994.hp2
NA19000.hp2
NA19010.hp2
NA19087.hp1
NA19091.hp1
 intron_variant MODIFIER c.1314-5133C>A
c.1314-5133C>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 567878
chr17:568095 T
T
 C
C
 44 a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0084g0046
others(41): Show 
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0084g0046
a0001c0001t0106g0117
a0001c0002t0043g0064
a0001c0005t0010g0008
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0017g0179
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0018g0231
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0085g0184
a0002c0003t0089g0175
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0099g0192
a0002c0003t0104g0208
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0145g0187
a0002c0003t0146g0170
a0002c0003t0148g0174
a0002c0003t0150g0191
a0004c0008t0036g0207
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
 44 HG00323.hp2
HG00423.hp1
HG00438.hp2
others(41): Show 
HG00323.hp2
HG00423.hp1
HG00438.hp2
HG00621.hp1
HG01070.hp2
HG01071.hp1
HG01099.hp1
HG01167.hp1
HG01884.hp2
HG01928.hp1
HG01981.hp1
HG02040.hp1
HG02056.hp1
HG02074.hp2
HG02083.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp1
HG02280.hp2
HG02293.hp1
HG02300.hp1
HG02738.hp2
HG03491.hp2
HG03516.hp1
HG03831.hp1
HG03942.hp1
HG04199.hp1
NA18612.hp1
NA18747.hp1
NA18944.hp1
NA18946.hp1
NA18955.hp1
NA18957.hp2
NA18979.hp2
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA19000.hp1
NA19010.hp1
NA19066.hp2
NA19074.hp1
NA19080.hp2
NA19084.hp2
NA19090.hp2
 intron_variant MODIFIER c.1314-5350A>G
c.1314-5350A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 568095
chr17:568258 T
T
 A
A
 5 a0001c0002t0001g0082
a0001c0002t0001g0094
a0001c0002t0065g0093
others(2): Show 
a0001c0002t0001g0082
a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0011t0051g0091
 5 HG01074.hp2
HG02886.hp1
NA18747.hp2
others(2): Show 
HG01074.hp2
HG02886.hp1
NA18747.hp2
NA18984.hp2
NA19064.hp2
 intron_variant MODIFIER c.1314-5513A>T
c.1314-5513A>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 568258
chr17:568343 G
G
 T
T
 1 a0001c0001t0106g0117
a0001c0001t0106g0117
 1 HG02109.hp2
HG02109.hp2
 intron_variant MODIFIER c.1314-5598C>A
c.1314-5598C>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 568343
chr17:568419 C
C
 CT
CT
 88 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(85): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0017g0158
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0032g0114
a0001c0001t0032g0204
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0034g0126
a0001c0001t0034g0162
a0001c0001t0069g0012
a0001c0001t0084g0046
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0097g0199
a0001c0001t0098g0147
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0105g0201
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0108g0148
a0001c0001t0110g0127
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0118g0195
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0122g0160
a0001c0001t0123g0123
a0001c0001t0127g0159
a0001c0001t0128g0132
a0001c0001t0134g0154
a0001c0001t0138g0161
a0001c0001t0141g0165
a0001c0002t0049g0048
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0001c0016t0052g0099
a0002c0010t0038g0156
a0006c0012t0129g0140
a0007c0013t0132g0163
 88 HG00099.hp2
HG00280.hp2
HG00423.hp2
others(85): Show 
HG00099.hp2
HG00280.hp2
HG00423.hp2
HG00741.hp1
HG00741.hp2
HG01081.hp2
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01346.hp2
HG01361.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp2
HG01978.hp2
HG01981.hp2
HG02040.hp2
HG02056.hp2
HG02083.hp2
HG02109.hp2
HG02129.hp2
HG02132.hp2
HG02145.hp2
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02572.hp2
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02723.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03688.hp1
HG03688.hp2
HG04184.hp2
HG04199.hp2
HG04204.hp1
NA18940.hp2
NA18945.hp2
NA18948.hp1
NA18950.hp1
NA18961.hp1
NA18967.hp2
NA18978.hp2
NA18983.hp2
NA19009.hp2
NA19060.hp2
NA19065.hp2
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19079.hp2
NA19081.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA21309.hp1
 intron_variant MODIFIER c.1314-5675dupA
c.1314-5675dupA
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 568419
chr17:568528 C
C
 T
T
 1 a0003c0004t0003g0036
a0003c0004t0003g0036
 1 HG02109.hp1
HG02109.hp1
 intron_variant MODIFIER c.1314-5783G>A
c.1314-5783G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 568528
chr17:568663 G
G
 C
C
 42 a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
others(39): Show 
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0002c0003t0073g0068
 42 HG00140.hp2
HG00280.hp1
HG00323.hp1
others(39): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp1
HG00621.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01106.hp1
HG01167.hp2
HG01168.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01361.hp1
HG01496.hp1
HG01978.hp1
HG02135.hp1
HG02738.hp1
HG02886.hp1
HG04204.hp2
NA18906.hp2
NA18940.hp1
NA18944.hp1
NA18946.hp2
NA18948.hp2
NA18959.hp2
NA18960.hp1
NA18962.hp2
NA18967.hp1
NA18973.hp1
NA18977.hp2
NA18979.hp1
NA19007.hp1
NA19009.hp1
NA19065.hp1
NA19070.hp1
NA19079.hp1
NA19084.hp1
NA19090.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1314-5918C>G
c.1314-5918C>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 568663
chr17:568805 T
T
 C
C
 78 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(75): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0017g0158
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0032g0114
a0001c0001t0032g0204
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0034g0126
a0001c0001t0034g0162
a0001c0001t0069g0012
a0001c0001t0084g0046
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0097g0199
a0001c0001t0098g0147
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0105g0201
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0108g0148
a0001c0001t0110g0127
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0118g0195
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0122g0160
a0001c0001t0123g0123
a0001c0001t0127g0159
a0001c0001t0128g0132
a0001c0001t0134g0154
a0001c0001t0138g0161
a0001c0001t0141g0165
a0001c0002t0049g0048
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0002c0010t0038g0156
a0006c0012t0129g0140
a0007c0013t0132g0163
 78 HG00423.hp2
HG00741.hp1
HG00741.hp2
others(75): Show 
HG00423.hp2
HG00741.hp1
HG00741.hp2
HG01081.hp2
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01346.hp2
HG01361.hp2
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp2
HG01978.hp2
HG02040.hp2
HG02056.hp2
HG02083.hp2
HG02109.hp2
HG02129.hp2
HG02132.hp2
HG02145.hp2
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02572.hp2
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02723.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03492.hp2
HG03516.hp1
HG03688.hp2
HG04184.hp2
HG04199.hp2
HG04204.hp1
NA18940.hp2
NA18945.hp2
NA18950.hp1
NA18961.hp1
NA18967.hp2
NA18978.hp2
NA18983.hp2
NA18987.hp2
NA19009.hp2
NA19060.hp2
NA19065.hp2
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19079.hp2
NA19081.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA21309.hp1
 intron_variant MODIFIER c.1314-6060A>G
c.1314-6060A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 568805
chr17:568933 C
C
 T
T
 89 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(86): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0017g0158
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0032g0114
a0001c0001t0032g0204
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0034g0126
a0001c0001t0034g0162
a0001c0001t0069g0012
a0001c0001t0084g0046
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0097g0199
a0001c0001t0098g0147
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0105g0201
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0108g0148
a0001c0001t0110g0127
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0118g0195
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0122g0160
a0001c0001t0123g0123
a0001c0001t0127g0159
a0001c0001t0128g0132
a0001c0001t0134g0154
a0001c0001t0138g0161
a0001c0001t0141g0165
a0001c0002t0049g0048
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0001c0016t0052g0099
a0002c0010t0038g0156
a0006c0012t0129g0140
a0007c0013t0132g0163
 89 HG00099.hp2
HG00280.hp2
HG00423.hp2
others(86): Show 
HG00099.hp2
HG00280.hp2
HG00423.hp2
HG00741.hp1
HG00741.hp2
HG01081.hp2
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01346.hp2
HG01361.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp2
HG01978.hp2
HG01981.hp2
HG02040.hp2
HG02056.hp2
HG02083.hp2
HG02109.hp2
HG02129.hp2
HG02132.hp2
HG02145.hp2
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02572.hp2
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02723.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03688.hp1
HG03688.hp2
HG04184.hp2
HG04199.hp2
HG04204.hp1
NA18940.hp2
NA18945.hp2
NA18948.hp1
NA18950.hp1
NA18961.hp1
NA18967.hp2
NA18978.hp2
NA18983.hp2
NA18987.hp2
NA19009.hp2
NA19060.hp2
NA19065.hp2
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19079.hp2
NA19081.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA21309.hp1
 intron_variant MODIFIER c.1314-6188G>A
c.1314-6188G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 568933
chr17:569342 G
G
 C
C
 10 a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
others(7): Show 
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
 10 HG02135.hp2
HG02602.hp1
NA18747.hp1
others(7): Show 
HG02135.hp2
HG02602.hp1
NA18747.hp1
NA18955.hp2
NA18960.hp2
NA18994.hp2
NA19000.hp2
NA19010.hp2
NA19087.hp1
NA19091.hp1
 intron_variant MODIFIER c.1314-6597C>G
c.1314-6597C>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 569342
chr17:569370 T
T
 C
C
 89 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(86): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0017g0158
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0032g0114
a0001c0001t0032g0204
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0034g0126
a0001c0001t0034g0162
a0001c0001t0069g0012
a0001c0001t0084g0046
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0097g0199
a0001c0001t0098g0147
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0105g0201
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0108g0148
a0001c0001t0110g0127
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0118g0195
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0122g0160
a0001c0001t0123g0123
a0001c0001t0127g0159
a0001c0001t0128g0132
a0001c0001t0134g0154
a0001c0001t0138g0161
a0001c0001t0141g0165
a0001c0002t0049g0048
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0001c0016t0052g0099
a0002c0010t0038g0156
a0006c0012t0129g0140
a0007c0013t0132g0163
 89 HG00099.hp2
HG00280.hp2
HG00423.hp2
others(86): Show 
HG00099.hp2
HG00280.hp2
HG00423.hp2
HG00741.hp1
HG00741.hp2
HG01081.hp2
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01346.hp2
HG01361.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp2
HG01978.hp2
HG01981.hp2
HG02040.hp2
HG02056.hp2
HG02083.hp2
HG02109.hp2
HG02129.hp2
HG02132.hp2
HG02145.hp2
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02572.hp2
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02723.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03688.hp1
HG03688.hp2
HG04184.hp2
HG04199.hp2
HG04204.hp1
NA18940.hp2
NA18945.hp2
NA18948.hp1
NA18950.hp1
NA18961.hp1
NA18967.hp2
NA18978.hp2
NA18983.hp2
NA18987.hp2
NA19009.hp2
NA19060.hp2
NA19065.hp2
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19079.hp2
NA19081.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA21309.hp1
 intron_variant MODIFIER c.1314-6625A>G
c.1314-6625A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 569370
chr17:569603 A
A
 G
G
 1 a0001c0002t0007g0062
a0001c0002t0007g0062
 1 NA18959.hp2
NA18959.hp2
 intron_variant MODIFIER c.1314-6858T>C
c.1314-6858T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 569603
chr17:569673 T
T
 A
A
 30 a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
others(27): Show 
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
 30 HG01257.hp2
HG01516.hp2
HG01517.hp1
others(27): Show 
HG01257.hp2
HG01516.hp2
HG01517.hp1
HG02074.hp1
HG02109.hp1
HG03831.hp2
NA18612.hp2
NA18906.hp1
NA18945.hp1
NA18950.hp2
NA18957.hp1
NA18959.hp1
NA18961.hp2
NA18962.hp1
NA18977.hp1
NA18978.hp1
NA18984.hp1
NA18986.hp2
NA18990.hp1
NA18994.hp1
NA19011.hp2
NA19060.hp1
NA19064.hp1
NA19068.hp1
NA19080.hp1
NA19081.hp1
NA19087.hp2
NA19091.hp2
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.1314-6928A>T
c.1314-6928A>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 569673
chr17:569744 C
C
 T
T
 2 a0001c0014t0135g0166
a0001c0015t0126g0149
a0001c0014t0135g0166
a0001c0015t0126g0149
 2 HG02572.hp1
HG02723.hp1
HG02572.hp1
HG02723.hp1
 intron_variant MODIFIER c.1314-6999G>A
c.1314-6999G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 569744
chr17:569859 A
A
 G
G
 216 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(213): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0017g0158
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0032g0114
a0001c0001t0032g0204
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0034g0126
a0001c0001t0034g0162
a0001c0001t0069g0012
a0001c0001t0084g0046
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0097g0199
a0001c0001t0098g0147
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0105g0201
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0108g0148
a0001c0001t0110g0127
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0118g0195
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0122g0160
a0001c0001t0123g0123
a0001c0001t0127g0159
a0001c0001t0128g0132
a0001c0001t0134g0154
a0001c0001t0138g0161
a0001c0001t0141g0165
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0001g0094
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0049g0048
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0065g0093
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0077g0095
a0001c0002t0078g0041
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0001c0011t0051g0091
a0001c0014t0135g0166
a0001c0015t0126g0149
a0001c0016t0052g0099
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0017g0179
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0018g0231
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0073g0068
a0002c0003t0085g0184
a0002c0003t0089g0175
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0099g0192
a0002c0003t0104g0208
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0145g0187
a0002c0003t0146g0170
a0002c0003t0148g0174
a0002c0003t0150g0191
a0002c0010t0038g0156
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
a0004c0008t0036g0207
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
a0006c0012t0129g0140
a0007c0013t0132g0163
 216 HG00099.hp2
HG00140.hp2
HG00280.hp1
others(213): Show 
HG00099.hp2
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp2
HG00621.hp1
HG00621.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02056.hp1
HG02056.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp2
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18944.hp1
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18955.hp1
NA18955.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18967.hp1
NA18967.hp2
NA18973.hp1
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18990.hp1
NA18994.hp1
NA18994.hp2
NA19000.hp1
NA19000.hp2
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19087.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1314-7114T>C
c.1314-7114T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 569859
chr17:569903 C
C
 CA
CA
 14 a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
others(11): Show 
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0097g0199
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0105g0201
a0001c0001t0118g0195
a0001c0001t0134g0154
 14 HG01109.hp2
HG01346.hp2
HG01884.hp1
others(11): Show 
HG01109.hp2
HG01346.hp2
HG01884.hp1
HG01891.hp2
HG02572.hp2
HG02622.hp1
HG02622.hp2
HG02723.hp2
HG02818.hp1
HG02922.hp2
HG03139.hp1
HG03139.hp2
NA20129.hp2
NA20300.hp1
 intron_variant MODIFIER c.1314-7159dupT
c.1314-7159dupT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 569903
chr17:569903 CA
CA
 C
C
 12 a0001c0002t0065g0093
a0001c0005t0010g0008
a0001c0005t0019g0006
others(9): Show 
a0001c0002t0065g0093
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0005c0009t0130g0178
 12 HG02135.hp2
HG02602.hp1
NA18747.hp1
others(9): Show 
HG02135.hp2
HG02602.hp1
NA18747.hp1
NA18946.hp1
NA18955.hp2
NA18960.hp2
NA18984.hp2
NA18994.hp2
NA19000.hp2
NA19010.hp2
NA19087.hp1
NA19091.hp1
 intron_variant MODIFIER c.1314-7159delT
c.1314-7159delT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 569903
chr17:569981 A
A
 C
C
 4 a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
others(1): Show 
a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0011t0051g0091
 4 HG01074.hp2
NA18747.hp2
NA18984.hp2
others(1): Show 
HG01074.hp2
NA18747.hp2
NA18984.hp2
NA19064.hp2
 intron_variant MODIFIER c.1314-7236T>G
c.1314-7236T>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 569981
chr17:570142 G
G
 A
A
 44 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(41): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0034g0126
a0001c0001t0069g0012
a0001c0001t0094g0129
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0110g0127
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0123g0123
a0001c0001t0128g0132
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0006c0012t0129g0140
 44 HG00423.hp2
HG00741.hp2
HG01081.hp2
others(41): Show 
HG00423.hp2
HG00741.hp2
HG01081.hp2
HG01175.hp2
HG01192.hp2
HG01255.hp2
HG01256.hp2
HG01361.hp2
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp2
HG01928.hp2
HG01978.hp2
HG02040.hp2
HG02056.hp2
HG02083.hp2
HG02109.hp2
HG02129.hp2
HG02132.hp2
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02602.hp2
HG03492.hp2
HG03688.hp2
HG04184.hp2
HG04199.hp2
NA18940.hp2
NA18945.hp2
NA18950.hp1
NA18961.hp1
NA18967.hp2
NA18978.hp2
NA18983.hp2
NA18987.hp2
NA19009.hp2
NA19060.hp2
NA19065.hp2
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19079.hp2
NA19081.hp2
 intron_variant MODIFIER c.1314-7397C>T
c.1314-7397C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 570142
chr17:570253 C
C
 T
T
 1 a0001c0001t0032g0204
a0001c0001t0032g0204
 1 HG02922.hp1
HG02922.hp1
 intron_variant MODIFIER c.1314-7508G>A
c.1314-7508G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 570253
chr17:570295 A
A
 G
G
 75 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(72): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0017g0158
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0032g0114
a0001c0001t0032g0204
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0034g0126
a0001c0001t0034g0162
a0001c0001t0069g0012
a0001c0001t0084g0046
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0097g0199
a0001c0001t0098g0147
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0105g0201
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0108g0148
a0001c0001t0110g0127
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0118g0195
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0122g0160
a0001c0001t0123g0123
a0001c0001t0127g0159
a0001c0001t0128g0132
a0001c0001t0138g0161
a0001c0001t0141g0165
a0001c0002t0049g0048
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0002c0010t0038g0156
a0006c0012t0129g0140
a0007c0013t0132g0163
 75 HG00423.hp2
HG00741.hp1
HG00741.hp2
others(72): Show 
HG00423.hp2
HG00741.hp1
HG00741.hp2
HG01081.hp2
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01346.hp2
HG01361.hp2
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01928.hp2
HG01978.hp2
HG02040.hp2
HG02056.hp2
HG02083.hp2
HG02109.hp2
HG02129.hp2
HG02132.hp2
HG02145.hp2
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02572.hp2
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02723.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03492.hp2
HG03516.hp1
HG03688.hp2
HG04184.hp2
HG04199.hp2
HG04204.hp1
NA18940.hp2
NA18945.hp2
NA18950.hp1
NA18961.hp1
NA18967.hp2
NA18978.hp2
NA18983.hp2
NA18987.hp2
NA19009.hp2
NA19060.hp2
NA19065.hp2
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19079.hp2
NA19081.hp2
NA20129.hp1
NA20300.hp2
NA21309.hp1
 intron_variant MODIFIER c.1314-7550T>C
c.1314-7550T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 570295
chr17:570372 CA
CA
 C
C
 9 a0001c0002t0010g0087
a0001c0005t0019g0006
a0001c0005t0019g0007
others(6): Show 
a0001c0002t0010g0087
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0042g0044
a0001c0014t0135g0166
a0002c0003t0017g0179
a0002c0003t0018g0214
a0002c0003t0139g0167
a0003c0004t0054g0032
 9 HG00621.hp1
HG02572.hp1
HG02602.hp1
others(6): Show 
HG00621.hp1
HG02572.hp1
HG02602.hp1
NA18957.hp2
NA18983.hp1
NA19000.hp2
NA19010.hp2
NA19084.hp1
NA19087.hp2
 intron_variant MODIFIER c.1314-7628delT
c.1314-7628delT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 570372
chr17:570372 CAA
CAA
 C
C
 94 a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
others(91): Show 
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0097g0199
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0105g0201
a0001c0001t0118g0195
a0001c0001t0120g0211
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0050g0049
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0078g0041
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0005t0010g0008
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0018g0172
a0002c0003t0018g0231
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0073g0068
a0002c0003t0085g0184
a0002c0003t0089g0175
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0099g0192
a0002c0003t0104g0208
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0145g0187
a0002c0003t0146g0170
a0002c0003t0148g0174
a0002c0003t0150g0191
a0004c0008t0036g0207
a0005c0009t0147g0177
 94 HG00140.hp2
HG00280.hp1
HG00323.hp2
others(91): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp2
HG00423.hp1
HG00438.hp2
HG00621.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01099.hp1
HG01106.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01346.hp2
HG01361.hp1
HG01496.hp1
HG01884.hp1
HG01928.hp1
HG01978.hp1
HG01981.hp1
HG02040.hp1
HG02056.hp1
HG02074.hp2
HG02083.hp1
HG02129.hp1
HG02132.hp1
HG02135.hp1
HG02135.hp2
HG02280.hp1
HG02293.hp1
HG02300.hp1
HG02572.hp2
HG02622.hp1
HG02622.hp2
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02886.hp1
HG02922.hp2
HG03139.hp1
HG03139.hp2
HG03491.hp2
HG03516.hp2
HG03831.hp1
HG03942.hp1
HG04184.hp2
HG04199.hp1
HG04204.hp2
NA18612.hp1
NA18747.hp1
NA18906.hp2
NA18940.hp1
NA18944.hp1
NA18946.hp2
NA18948.hp2
NA18955.hp2
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18962.hp2
NA18967.hp1
NA18973.hp1
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18986.hp1
NA18987.hp1
NA18994.hp2
NA19000.hp1
NA19007.hp1
NA19009.hp1
NA19010.hp1
NA19065.hp1
NA19066.hp2
NA19070.hp1
NA19074.hp1
NA19079.hp1
NA19080.hp2
NA19084.hp2
NA19087.hp1
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1314-7629_1314-762
others(6): Show 
c.1314-7629_1314-7628delTT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 570372
chr17:570372 CAAA
CAAA
 C
C
 72 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(69): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0017g0158
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0032g0114
a0001c0001t0032g0204
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0034g0126
a0001c0001t0034g0162
a0001c0001t0069g0012
a0001c0001t0084g0046
a0001c0001t0095g0145
a0001c0001t0098g0147
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0108g0148
a0001c0001t0110g0127
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0119g0144
a0001c0001t0121g0143
a0001c0001t0122g0160
a0001c0001t0123g0123
a0001c0001t0127g0159
a0001c0001t0128g0132
a0001c0001t0134g0154
a0001c0001t0138g0161
a0001c0001t0141g0165
a0001c0002t0001g0080
a0001c0002t0001g0094
a0001c0002t0049g0048
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0006t0057g0103
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0001c0011t0051g0091
a0002c0010t0038g0156
a0005c0009t0130g0178
a0005c0009t0137g0189
a0006c0012t0129g0140
a0007c0013t0132g0163
 72 HG00280.hp2
HG00323.hp1
HG00423.hp2
others(69): Show 
HG00280.hp2
HG00323.hp1
HG00423.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp2
HG01081.hp2
HG01106.hp2
HG01109.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01361.hp2
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp2
HG01978.hp2
HG02040.hp2
HG02056.hp2
HG02083.hp2
HG02109.hp2
HG02129.hp2
HG02132.hp2
HG02145.hp2
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02602.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG03225.hp1
HG03492.hp2
HG03516.hp1
HG03688.hp2
HG04199.hp2
HG04204.hp1
NA18747.hp2
NA18940.hp2
NA18945.hp2
NA18946.hp1
NA18955.hp1
NA18961.hp1
NA18967.hp2
NA18978.hp2
NA18983.hp2
NA18984.hp2
NA18987.hp2
NA19009.hp2
NA19060.hp2
NA19064.hp2
NA19065.hp2
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19079.hp2
NA19081.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA21309.hp1
 intron_variant MODIFIER c.1314-7630_1314-762
others(7): Show 
c.1314-7630_1314-7628delTTT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 570372
chr17:570372 CAAAA
CAAAA
 C
C
 12 a0001c0001t0094g0129
a0001c0001t0096g0146
a0001c0006t0001g0113
others(9): Show 
a0001c0001t0094g0129
a0001c0001t0096g0146
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0016t0052g0099
 12 HG00099.hp2
HG01099.hp2
HG01168.hp2
others(9): Show 
HG00099.hp2
HG01099.hp2
HG01168.hp2
HG01175.hp1
HG01515.hp2
HG01981.hp2
HG03225.hp2
HG03491.hp1
HG03492.hp1
HG03688.hp1
NA18948.hp1
NA18950.hp1
 intron_variant MODIFIER c.1314-7631_1314-762
others(8): Show 
c.1314-7631_1314-7628delTTTT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 570372
chr17:570563 T
T
 A
A
 1 a0001c0007t0062g0104
a0001c0007t0062g0104
 1 HG02293.hp2
HG02293.hp2
 intron_variant MODIFIER c.1314-7818A>T
c.1314-7818A>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 570563
chr17:570592 T
T
 A
A
 2 a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0031g0153
a0001c0001t0031g0155
 2 HG01891.hp2
NA20129.hp2
HG01891.hp2
NA20129.hp2
 intron_variant MODIFIER c.1314-7847A>T
c.1314-7847A>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 570592
chr17:570619 C
C
 T
T
 1 a0001c0006t0001g0113
a0001c0006t0001g0113
 1 HG03688.hp1
HG03688.hp1
 intron_variant MODIFIER c.1314-7874G>A
c.1314-7874G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 570619
chr17:570734 G
G
 T
T
 2 a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0101g0200
a0001c0001t0102g0220
 2 HG02572.hp2
HG03139.hp1
HG02572.hp2
HG03139.hp1
 intron_variant MODIFIER c.1314-7989C>A
c.1314-7989C>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 570734
chr17:570738 T
T
 C
C
 1 a0001c0001t0002g0128
a0001c0001t0002g0128
 1 HG02129.hp2
HG02129.hp2
 intron_variant MODIFIER c.1314-7993A>G
c.1314-7993A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 570738
chr17:570793 G
G
 C
C
 1 a0002c0010t0038g0156
a0002c0010t0038g0156
 1 NA21309.hp1
NA21309.hp1
 intron_variant MODIFIER c.1314-8048C>G
c.1314-8048C>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 570793
chr17:570936 T
T
 C
C
 1 a0001c0002t0050g0049
a0001c0002t0050g0049
 1 HG02280.hp1
HG02280.hp1
 intron_variant MODIFIER c.1314-8191A>G
c.1314-8191A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 570936
chr17:571051 G
G
 C
C
 1 a0001c0001t0121g0143
a0001c0001t0121g0143
 1 HG04199.hp2
HG04199.hp2
 intron_variant MODIFIER c.1314-8306C>G
c.1314-8306C>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 571051
chr17:571154 A
A
 G
G
 89 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(86): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0017g0158
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0032g0114
a0001c0001t0032g0204
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0034g0126
a0001c0001t0034g0162
a0001c0001t0069g0012
a0001c0001t0084g0046
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0097g0199
a0001c0001t0098g0147
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0105g0201
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0108g0148
a0001c0001t0110g0127
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0118g0195
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0122g0160
a0001c0001t0123g0123
a0001c0001t0127g0159
a0001c0001t0128g0132
a0001c0001t0134g0154
a0001c0001t0138g0161
a0001c0001t0141g0165
a0001c0002t0049g0048
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0001c0016t0052g0099
a0002c0010t0038g0156
a0006c0012t0129g0140
a0007c0013t0132g0163
 89 HG00099.hp2
HG00280.hp2
HG00423.hp2
others(86): Show 
HG00099.hp2
HG00280.hp2
HG00423.hp2
HG00741.hp1
HG00741.hp2
HG01081.hp2
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01346.hp2
HG01361.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp2
HG01978.hp2
HG01981.hp2
HG02040.hp2
HG02056.hp2
HG02083.hp2
HG02109.hp2
HG02129.hp2
HG02132.hp2
HG02145.hp2
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02572.hp2
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02723.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03688.hp1
HG03688.hp2
HG04184.hp2
HG04199.hp2
HG04204.hp1
NA18940.hp2
NA18945.hp2
NA18948.hp1
NA18950.hp1
NA18961.hp1
NA18967.hp2
NA18978.hp2
NA18983.hp2
NA18987.hp2
NA19009.hp2
NA19060.hp2
NA19065.hp2
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19079.hp2
NA19081.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA21309.hp1
 intron_variant MODIFIER c.1314-8409T>C
c.1314-8409T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 571154
chr17:571254 T
T
 G
G
 1 a0001c0002t0001g0082
a0001c0002t0001g0082
 1 HG02886.hp1
HG02886.hp1
 intron_variant MODIFIER c.1314-8509A>C
c.1314-8509A>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 571254
chr17:571303 G
G
 A
A
 176 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(173): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0017g0158
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0032g0114
a0001c0001t0032g0204
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0034g0126
a0001c0001t0034g0162
a0001c0001t0069g0012
a0001c0001t0084g0046
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0097g0199
a0001c0001t0098g0147
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0105g0201
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0108g0148
a0001c0001t0110g0127
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0118g0195
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0122g0160
a0001c0001t0123g0123
a0001c0001t0127g0159
a0001c0001t0128g0132
a0001c0001t0134g0154
a0001c0001t0138g0161
a0001c0001t0141g0165
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0001g0094
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0049g0048
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0065g0093
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0077g0095
a0001c0002t0078g0041
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0001c0011t0051g0091
a0001c0016t0052g0099
a0002c0003t0073g0068
a0002c0010t0038g0156
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
a0006c0012t0129g0140
a0007c0013t0132g0163
 176 HG00099.hp2
HG00140.hp2
HG00280.hp1
others(173): Show 
HG00099.hp2
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00423.hp2
HG00621.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp2
HG02040.hp2
HG02056.hp2
HG02074.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp2
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02723.hp2
HG02738.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp2
HG04184.hp2
HG04199.hp2
HG04204.hp1
HG04204.hp2
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18944.hp1
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18955.hp2
NA18957.hp1
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18967.hp1
NA18967.hp2
NA18973.hp1
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18986.hp2
NA18987.hp2
NA18990.hp1
NA18994.hp1
NA18994.hp2
NA19000.hp2
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19011.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19081.hp1
NA19081.hp2
NA19084.hp1
NA19087.hp1
NA19087.hp2
NA19090.hp1
NA19091.hp1
NA19091.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1314-8558C>T
c.1314-8558C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 571303
chr17:571349 C
C
 T
T
 1 a0001c0015t0126g0149
a0001c0015t0126g0149
 1 HG02723.hp1
HG02723.hp1
 intron_variant MODIFIER c.1314-8604G>A
c.1314-8604G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 571349
chr17:571444 T
T
 C
C
 10 a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
others(7): Show 
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
 10 HG02135.hp2
HG02602.hp1
NA18747.hp1
others(7): Show 
HG02135.hp2
HG02602.hp1
NA18747.hp1
NA18955.hp2
NA18960.hp2
NA18994.hp2
NA19000.hp2
NA19010.hp2
NA19087.hp1
NA19091.hp1
 intron_variant MODIFIER c.1314-8699A>G
c.1314-8699A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 571444
chr17:571487 T
T
 C
C
 2 a0001c0006t0041g0001
a0002c0010t0038g0156
a0001c0006t0041g0001
a0002c0010t0038g0156
 2 HG01175.hp1
NA21309.hp1
HG01175.hp1
NA21309.hp1
 intron_variant MODIFIER c.1314-8742A>G
c.1314-8742A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 571487
chr17:571487 T
T
 TTCTCCCT
others(11): Show 
TTCTCCCTCTCCCTCTCCC
 10 a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
others(7): Show 
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
 10 HG02135.hp2
HG02602.hp1
NA18747.hp1
others(7): Show 
HG02135.hp2
HG02602.hp1
NA18747.hp1
NA18955.hp2
NA18960.hp2
NA18994.hp2
NA19000.hp2
NA19010.hp2
NA19087.hp1
NA19091.hp1
 intron_variant MODIFIER c.1314-8760_1314-874
others(22): Show 
c.1314-8760_1314-8743dupGGGAGAGGGAGAGGGAGA
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 571487
chr17:571499 CTCTCCCT
others(4): Show 
CTCTCCCTACAG
 C
C
 2 a0001c0006t0041g0001
a0006c0012t0129g0140
a0001c0006t0041g0001
a0006c0012t0129g0140
 2 HG01175.hp1
NA18978.hp2
HG01175.hp1
NA18978.hp2
 intron_variant MODIFIER c.1314-8765_1314-875
others(15): Show 
c.1314-8765_1314-8755delCTGTAGGGAGA
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 571499
chr17:571505 CTACAG
CTACAG
 C
C
 86 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(83): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0017g0158
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0032g0114
a0001c0001t0032g0204
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0034g0126
a0001c0001t0034g0162
a0001c0001t0069g0012
a0001c0001t0084g0046
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0094g0129
a0001c0001t0096g0146
a0001c0001t0097g0199
a0001c0001t0098g0147
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0105g0201
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0108g0148
a0001c0001t0110g0127
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0118g0195
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0122g0160
a0001c0001t0123g0123
a0001c0001t0127g0159
a0001c0001t0128g0132
a0001c0001t0134g0154
a0001c0001t0138g0161
a0001c0001t0141g0165
a0001c0002t0049g0048
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0001c0016t0052g0099
a0002c0010t0038g0156
a0007c0013t0132g0163
 86 HG00099.hp2
HG00280.hp2
HG00423.hp2
others(83): Show 
HG00099.hp2
HG00280.hp2
HG00423.hp2
HG00741.hp1
HG00741.hp2
HG01081.hp2
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01168.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01346.hp2
HG01361.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp2
HG01978.hp2
HG01981.hp2
HG02040.hp2
HG02056.hp2
HG02083.hp2
HG02109.hp2
HG02129.hp2
HG02132.hp2
HG02145.hp2
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02572.hp2
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02723.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03688.hp1
HG03688.hp2
HG04184.hp2
HG04199.hp2
HG04204.hp1
NA18940.hp2
NA18945.hp2
NA18948.hp1
NA18950.hp1
NA18961.hp1
NA18967.hp2
NA18983.hp2
NA18987.hp2
NA19009.hp2
NA19060.hp2
NA19065.hp2
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19079.hp2
NA19081.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA21309.hp1
 intron_variant MODIFIER c.1314-8765_1314-876
others(9): Show 
c.1314-8765_1314-8761delCTGTA
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 571505
chr17:571519 T
T
 A
A
 1 a0001c0001t0115g0136
a0001c0001t0115g0136
 1 HG03492.hp2
HG03492.hp2
 intron_variant MODIFIER c.1314-8774A>T
c.1314-8774A>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 571519
chr17:571521 C
C
 A
A
 1 a0001c0001t0115g0136
a0001c0001t0115g0136
 1 HG03492.hp2
HG03492.hp2
 intron_variant MODIFIER c.1314-8776G>T
c.1314-8776G>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 571521
chr17:571522 C
C
 CTACAG
CTACAG
 75 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(72): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0017g0158
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0032g0114
a0001c0001t0032g0204
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0034g0126
a0001c0001t0034g0162
a0001c0001t0069g0012
a0001c0001t0084g0046
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0094g0129
a0001c0001t0096g0146
a0001c0001t0097g0199
a0001c0001t0098g0147
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0105g0201
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0108g0148
a0001c0001t0110g0127
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0118g0195
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0122g0160
a0001c0001t0123g0123
a0001c0001t0127g0159
a0001c0001t0128g0132
a0001c0001t0134g0154
a0001c0001t0138g0161
a0001c0001t0141g0165
a0001c0002t0049g0048
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0002c0010t0038g0156
a0007c0013t0132g0163
 75 HG00423.hp2
HG00741.hp1
HG00741.hp2
others(72): Show 
HG00423.hp2
HG00741.hp1
HG00741.hp2
HG01081.hp2
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01346.hp2
HG01361.hp2
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp2
HG01978.hp2
HG02040.hp2
HG02056.hp2
HG02083.hp2
HG02109.hp2
HG02129.hp2
HG02132.hp2
HG02145.hp2
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02572.hp2
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02723.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03516.hp1
HG03688.hp2
HG04184.hp2
HG04199.hp2
HG04204.hp1
NA18940.hp2
NA18945.hp2
NA18950.hp1
NA18961.hp1
NA18967.hp2
NA18983.hp2
NA18987.hp2
NA19009.hp2
NA19060.hp2
NA19065.hp2
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19079.hp2
NA19081.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA21309.hp1
 intron_variant MODIFIER c.1314-8778_1314-877
others(9): Show 
c.1314-8778_1314-8777insCTGTA
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 571522
chr17:571522 C
C
 G
G
 1 a0001c0001t0115g0136
a0001c0001t0115g0136
 1 HG03492.hp2
HG03492.hp2
 intron_variant MODIFIER c.1314-8777G>C
c.1314-8777G>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 571522
chr17:571523 T
T
 TCTCCCTA
others(16): Show 
TCTCCCTACGGTCTCCCTCTCCCC
 42 a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
others(39): Show 
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0058g0052
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0078g0041
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0002c0003t0073g0068
 42 HG00140.hp2
HG00280.hp1
HG00323.hp1
others(39): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp1
HG00621.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01106.hp1
HG01167.hp2
HG01168.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01361.hp1
HG01496.hp1
HG01978.hp1
HG02135.hp1
HG02738.hp1
HG02886.hp1
HG03516.hp2
HG04204.hp2
NA18940.hp1
NA18944.hp1
NA18946.hp2
NA18948.hp2
NA18959.hp2
NA18960.hp1
NA18962.hp2
NA18967.hp1
NA18973.hp1
NA18977.hp2
NA18979.hp1
NA19007.hp1
NA19009.hp1
NA19065.hp1
NA19070.hp1
NA19079.hp1
NA19084.hp1
NA19090.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1314-8801_1314-877
others(27): Show 
c.1314-8801_1314-8779dupGGGGAGAGGGAGACCGTAGGGAG
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 571523
chr17:571528 CTACGG
CTACGG
 C
C
 76 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(73): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0017g0158
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0032g0114
a0001c0001t0032g0204
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0034g0126
a0001c0001t0034g0162
a0001c0001t0069g0012
a0001c0001t0084g0046
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0094g0129
a0001c0001t0096g0146
a0001c0001t0097g0199
a0001c0001t0098g0147
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0105g0201
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0108g0148
a0001c0001t0110g0127
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0118g0195
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0122g0160
a0001c0001t0123g0123
a0001c0001t0127g0159
a0001c0001t0128g0132
a0001c0001t0134g0154
a0001c0001t0138g0161
a0001c0001t0141g0165
a0001c0002t0049g0048
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0002c0010t0038g0156
a0007c0013t0132g0163
 76 HG00423.hp2
HG00741.hp1
HG00741.hp2
others(73): Show 
HG00423.hp2
HG00741.hp1
HG00741.hp2
HG01081.hp2
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01346.hp2
HG01361.hp2
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp2
HG01978.hp2
HG02040.hp2
HG02056.hp2
HG02083.hp2
HG02109.hp2
HG02129.hp2
HG02132.hp2
HG02145.hp2
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02572.hp2
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02723.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03492.hp2
HG03516.hp1
HG03688.hp2
HG04184.hp2
HG04199.hp2
HG04204.hp1
NA18940.hp2
NA18945.hp2
NA18950.hp1
NA18961.hp1
NA18967.hp2
NA18983.hp2
NA18987.hp2
NA19009.hp2
NA19060.hp2
NA19065.hp2
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19079.hp2
NA19081.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA21309.hp1
 intron_variant MODIFIER c.1314-8788_1314-878
others(9): Show 
c.1314-8788_1314-8784delCCGTA
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 571528
chr17:571529 TACGGTCT
others(10): Show 
TACGGTCTCCCTCTCCCC
 T
T
 1 a0001c0001t0095g0145
a0001c0001t0095g0145
 1 NA20300.hp2
NA20300.hp2
 intron_variant MODIFIER c.1314-8801_1314-878
others(21): Show 
c.1314-8801_1314-8785delGGGGAGAGGGAGACCGT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 571529
chr17:571532 G
G
 A
A
 12 a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
others(9): Show 
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0016t0052g0099
a0006c0012t0129g0140
 12 HG00099.hp2
HG00280.hp2
HG01099.hp2
others(9): Show 
HG00099.hp2
HG00280.hp2
HG01099.hp2
HG01168.hp2
HG01175.hp1
HG01515.hp2
HG01981.hp2
HG03491.hp1
HG03492.hp1
HG03688.hp1
NA18948.hp1
NA18978.hp2
 intron_variant MODIFIER c.1314-8787C>T
c.1314-8787C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 571532
chr17:571537 C
C
 CCCTTTT
CCCTTTT
 11 a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
others(8): Show 
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0016t0052g0099
 11 HG00099.hp2
HG00280.hp2
HG01099.hp2
others(8): Show 
HG00099.hp2
HG00280.hp2
HG01099.hp2
HG01168.hp2
HG01175.hp1
HG01515.hp2
HG01981.hp2
HG03491.hp1
HG03492.hp1
HG03688.hp1
NA18948.hp1
 intron_variant MODIFIER c.1314-8793_1314-879
others(10): Show 
c.1314-8793_1314-8792insAAAAGG
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 571537
chr17:571546 C
C
 T
T
 87 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(84): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0017g0158
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0032g0114
a0001c0001t0032g0204
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0034g0126
a0001c0001t0034g0162
a0001c0001t0069g0012
a0001c0001t0084g0046
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0094g0129
a0001c0001t0096g0146
a0001c0001t0097g0199
a0001c0001t0098g0147
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0105g0201
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0108g0148
a0001c0001t0110g0127
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0118g0195
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0122g0160
a0001c0001t0123g0123
a0001c0001t0127g0159
a0001c0001t0128g0132
a0001c0001t0134g0154
a0001c0001t0138g0161
a0001c0001t0141g0165
a0001c0002t0049g0048
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0001c0016t0052g0099
a0002c0010t0038g0156
a0007c0013t0132g0163
 87 HG00099.hp2
HG00280.hp2
HG00423.hp2
others(84): Show 
HG00099.hp2
HG00280.hp2
HG00423.hp2
HG00741.hp1
HG00741.hp2
HG01081.hp2
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01346.hp2
HG01361.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp2
HG01978.hp2
HG01981.hp2
HG02040.hp2
HG02056.hp2
HG02083.hp2
HG02109.hp2
HG02129.hp2
HG02132.hp2
HG02145.hp2
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02572.hp2
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02723.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03688.hp1
HG03688.hp2
HG04184.hp2
HG04199.hp2
HG04204.hp1
NA18940.hp2
NA18945.hp2
NA18948.hp1
NA18950.hp1
NA18961.hp1
NA18967.hp2
NA18983.hp2
NA18987.hp2
NA19009.hp2
NA19060.hp2
NA19065.hp2
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19079.hp2
NA19081.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA21309.hp1
 intron_variant MODIFIER c.1314-8801G>A
c.1314-8801G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 571546
chr17:571574 G
G
 A
A
 14 a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
others(11): Show 
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0097g0199
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0105g0201
a0001c0001t0118g0195
a0001c0001t0134g0154
 14 HG01109.hp2
HG01346.hp2
HG01884.hp1
others(11): Show 
HG01109.hp2
HG01346.hp2
HG01884.hp1
HG01891.hp2
HG02572.hp2
HG02622.hp1
HG02622.hp2
HG02723.hp2
HG02818.hp1
HG02922.hp2
HG03139.hp1
HG03139.hp2
NA20129.hp2
NA20300.hp1
 intron_variant MODIFIER c.1314-8829C>T
c.1314-8829C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 571574
chr17:571590 C
C
 T
T
 89 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(86): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0017g0158
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0032g0114
a0001c0001t0032g0204
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0034g0126
a0001c0001t0034g0162
a0001c0001t0069g0012
a0001c0001t0084g0046
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0097g0199
a0001c0001t0098g0147
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0105g0201
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0108g0148
a0001c0001t0110g0127
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0118g0195
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0122g0160
a0001c0001t0123g0123
a0001c0001t0127g0159
a0001c0001t0128g0132
a0001c0001t0134g0154
a0001c0001t0138g0161
a0001c0001t0141g0165
a0001c0002t0049g0048
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0001c0016t0052g0099
a0002c0010t0038g0156
a0006c0012t0129g0140
a0007c0013t0132g0163
 89 HG00099.hp2
HG00280.hp2
HG00423.hp2
others(86): Show 
HG00099.hp2
HG00280.hp2
HG00423.hp2
HG00741.hp1
HG00741.hp2
HG01081.hp2
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01346.hp2
HG01361.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp2
HG01978.hp2
HG01981.hp2
HG02040.hp2
HG02056.hp2
HG02083.hp2
HG02109.hp2
HG02129.hp2
HG02132.hp2
HG02145.hp2
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02572.hp2
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02723.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03688.hp1
HG03688.hp2
HG04184.hp2
HG04199.hp2
HG04204.hp1
NA18940.hp2
NA18945.hp2
NA18948.hp1
NA18950.hp1
NA18961.hp1
NA18967.hp2
NA18978.hp2
NA18983.hp2
NA18987.hp2
NA19009.hp2
NA19060.hp2
NA19065.hp2
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19079.hp2
NA19081.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA21309.hp1
 intron_variant MODIFIER c.1314-8845G>A
c.1314-8845G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 571590
chr17:571734 G
G
 A
A
 1 a0001c0015t0126g0149
a0001c0015t0126g0149
 1 HG02723.hp1
HG02723.hp1
 intron_variant MODIFIER c.1314-8989C>T
c.1314-8989C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 571734
chr17:571754 G
G
 A
A
 1 a0007c0013t0132g0163
a0007c0013t0132g0163
 1 HG04204.hp1
HG04204.hp1
 intron_variant MODIFIER c.1314-9009C>T
c.1314-9009C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 571754
chr17:571786 C
C
 A
A
 4 a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
others(1): Show 
a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0011t0051g0091
 4 HG01074.hp2
NA18747.hp2
NA18984.hp2
others(1): Show 
HG01074.hp2
NA18747.hp2
NA18984.hp2
NA19064.hp2
 intron_variant MODIFIER c.1314-9041G>T
c.1314-9041G>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 571786
chr17:571827 T
T
 A
A
 1 a0001c0002t0050g0049
a0001c0002t0050g0049
 1 HG02280.hp1
HG02280.hp1
 intron_variant MODIFIER c.1314-9082A>T
c.1314-9082A>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 571827
chr17:571832 G
G
 C
C
 1 a0001c0002t0050g0049
a0001c0002t0050g0049
 1 HG02280.hp1
HG02280.hp1
 intron_variant MODIFIER c.1314-9087C>G
c.1314-9087C>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 571832
chr17:571845 C
C
 T
T
 11 a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
others(8): Show 
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0016t0052g0099
 11 HG00099.hp2
HG00280.hp2
HG01099.hp2
others(8): Show 
HG00099.hp2
HG00280.hp2
HG01099.hp2
HG01168.hp2
HG01175.hp1
HG01515.hp2
HG01981.hp2
HG03491.hp1
HG03492.hp1
HG03688.hp1
NA18948.hp1
 intron_variant MODIFIER c.1314-9100G>A
c.1314-9100G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 571845
chr17:571867 T
T
 A
A
 2 a0001c0001t0111g0164
a0001c0001t0127g0159
a0001c0001t0111g0164
a0001c0001t0127g0159
 2 HG01891.hp1
HG02895.hp2
HG01891.hp1
HG02895.hp2
 intron_variant MODIFIER c.1314-9122A>T
c.1314-9122A>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 571867
chr17:571986 G
G
 A
A
 10 a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
others(7): Show 
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
 10 HG02135.hp2
HG02602.hp1
NA18747.hp1
others(7): Show 
HG02135.hp2
HG02602.hp1
NA18747.hp1
NA18955.hp2
NA18960.hp2
NA18994.hp2
NA19000.hp2
NA19010.hp2
NA19087.hp1
NA19091.hp1
 intron_variant MODIFIER c.1314-9241C>T
c.1314-9241C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 571986
chr17:572216 G
G
 A
A
 4 a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
others(1): Show 
a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0011t0051g0091
 4 HG01074.hp2
NA18747.hp2
NA18984.hp2
others(1): Show 
HG01074.hp2
NA18747.hp2
NA18984.hp2
NA19064.hp2
 intron_variant MODIFIER c.1314-9471C>T
c.1314-9471C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 572216
chr17:572357 G
G
 A
A
 1 a0002c0003t0018g0231
a0002c0003t0018g0231
 1 HG03942.hp1
HG03942.hp1
 intron_variant MODIFIER c.1314-9612C>T
c.1314-9612C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 572357
chr17:572392 A
A
 ACCCCGTC
others(92): Show 
ACCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCAGGCCAGCC
GCCCCATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCACCCGGCCAGCCG
 1 a0001c0006t0041g0001
a0001c0006t0041g0001
 1 HG01175.hp1
HG01175.hp1
 intron_variant MODIFIER c.1314-9648_1314-964
others(103): Show 
c.1314-9648_1314-9647insCGGCTGGCCGGGTGGGGGGCTGACCC
CCCCACCTCCCTCCCGGATGGGGCGGCTGGCCTGGCGGGGGGCTGACCCC
CCCCACCTCCCTCCCGGACGGGG
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 572392
chr17:572392 A
A
 ACCCCGTC
others(91): Show 
ACCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCAGGCCAGCCG
CCCCATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCACCCGGCCAGCCG
 85 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(82): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0017g0158
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0032g0114
a0001c0001t0032g0204
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0034g0126
a0001c0001t0034g0162
a0001c0001t0069g0012
a0001c0001t0084g0046
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0097g0199
a0001c0001t0098g0147
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0105g0201
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0108g0148
a0001c0001t0110g0127
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0118g0195
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0122g0160
a0001c0001t0123g0123
a0001c0001t0127g0159
a0001c0001t0128g0132
a0001c0001t0134g0154
a0001c0001t0138g0161
a0001c0001t0141g0165
a0001c0002t0049g0048
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0002c0010t0038g0156
a0007c0013t0132g0163
 85 HG00099.hp2
HG00280.hp2
HG00423.hp2
others(82): Show 
HG00099.hp2
HG00280.hp2
HG00423.hp2
HG00741.hp1
HG00741.hp2
HG01081.hp2
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01346.hp2
HG01361.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp2
HG01978.hp2
HG01981.hp2
HG02040.hp2
HG02056.hp2
HG02083.hp2
HG02109.hp2
HG02129.hp2
HG02132.hp2
HG02145.hp2
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02572.hp2
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02723.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03688.hp1
HG03688.hp2
HG04184.hp2
HG04199.hp2
HG04204.hp1
NA18940.hp2
NA18945.hp2
NA18948.hp1
NA18950.hp1
NA18961.hp1
NA18983.hp2
NA18987.hp2
NA19009.hp2
NA19060.hp2
NA19065.hp2
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19079.hp2
NA19081.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA21309.hp1
 intron_variant MODIFIER c.1314-9648_1314-964
others(102): Show 
c.1314-9648_1314-9647insCGGCTGGCCGGGTGGGGGGCTGACCC
CCCCACCTCCCTCCCGGATGGGGCGGCTGGCCTGGCGGGGGGCTGACCCC
CCCACCTCCCTCCCGGACGGGG
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 572392
chr17:572392 A
A
 ACCCCGTC
others(92): Show 
ACCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCAGGCCAGCCG
CCCCATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCCACCCGGCCAGCCG
 1 a0001c0001t0016g0118
a0001c0001t0016g0118
 1 NA18967.hp2
NA18967.hp2
 intron_variant MODIFIER c.1314-9648_1314-964
others(103): Show 
c.1314-9648_1314-9647insCGGCTGGCCGGGTGGGGGGGCTGACC
CCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCTGGCGGGGGGCTGACCC
CCCCACCTCCCTCCCGGACGGGG
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 572392
chr17:572411 T
T
 TGGGGGGG
others(92): Show 
TGGGGGGGTCAGCCCCCCGCCAGGCCAGCCGCCCCATCCGGGAGGGAGGT
GGGGGGGTCAGCCCCCCACCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTG
 2 a0001c0016t0052g0099
a0006c0012t0129g0140
a0001c0016t0052g0099
a0006c0012t0129g0140
 2 HG01168.hp2
NA18978.hp2
HG01168.hp2
NA18978.hp2
 intron_variant MODIFIER c.1314-9667_1314-966
others(103): Show 
c.1314-9667_1314-9666insCACCTCCCTCCCGGACGGGGCGGCTG
GCCGGGTGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGG
CCTGGCGGGGGGCTGACCCCCCC
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 572411
chr17:572427 C
C
 T
T
 10 a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
others(7): Show 
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
 10 HG02135.hp2
HG02602.hp1
NA18747.hp1
others(7): Show 
HG02135.hp2
HG02602.hp1
NA18747.hp1
NA18955.hp2
NA18960.hp2
NA18994.hp2
NA19000.hp2
NA19010.hp2
NA19087.hp1
NA19091.hp1
 intron_variant MODIFIER c.1314-9682G>A
c.1314-9682G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 572427
chr17:572435 C
C
 G
G
 1 a0001c0002t0001g0056
a0001c0002t0001g0056
 1 HG01167.hp2
HG01167.hp2
 intron_variant MODIFIER c.1314-9690G>C
c.1314-9690G>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 572435
chr17:572446 A
A
 G
G
 2 a0001c0014t0135g0166
a0001c0015t0126g0149
a0001c0014t0135g0166
a0001c0015t0126g0149
 2 HG02572.hp1
HG02723.hp1
HG02572.hp1
HG02723.hp1
 intron_variant MODIFIER c.1314-9701T>C
c.1314-9701T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 572446
chr17:572447 T
T
 C
C
 2 a0001c0014t0135g0166
a0001c0015t0126g0149
a0001c0014t0135g0166
a0001c0015t0126g0149
 2 HG02572.hp1
HG02723.hp1
HG02572.hp1
HG02723.hp1
 intron_variant MODIFIER c.1314-9702A>G
c.1314-9702A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 572447
chr17:572511 A
A
 G
G
 216 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(213): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0017g0158
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0032g0114
a0001c0001t0032g0204
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0034g0126
a0001c0001t0034g0162
a0001c0001t0069g0012
a0001c0001t0084g0046
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0097g0199
a0001c0001t0098g0147
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0105g0201
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0108g0148
a0001c0001t0110g0127
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0118g0195
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0122g0160
a0001c0001t0123g0123
a0001c0001t0127g0159
a0001c0001t0128g0132
a0001c0001t0134g0154
a0001c0001t0138g0161
a0001c0001t0141g0165
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0001g0094
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0049g0048
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0065g0093
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0077g0095
a0001c0002t0078g0041
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0001c0011t0051g0091
a0001c0014t0135g0166
a0001c0015t0126g0149
a0001c0016t0052g0099
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0017g0179
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0018g0231
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0073g0068
a0002c0003t0085g0184
a0002c0003t0089g0175
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0099g0192
a0002c0003t0104g0208
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0145g0187
a0002c0003t0146g0170
a0002c0003t0148g0174
a0002c0003t0150g0191
a0002c0010t0038g0156
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
a0004c0008t0036g0207
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
a0006c0012t0129g0140
a0007c0013t0132g0163
 216 HG00099.hp2
HG00140.hp2
HG00280.hp1
others(213): Show 
HG00099.hp2
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp2
HG00621.hp1
HG00621.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02056.hp1
HG02056.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp2
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18944.hp1
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18955.hp1
NA18955.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18967.hp1
NA18967.hp2
NA18973.hp1
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18990.hp1
NA18994.hp1
NA18994.hp2
NA19000.hp1
NA19000.hp2
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19087.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1314-9766T>C
c.1314-9766T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 572511
chr17:572540 T
T
 C
C
 89 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(86): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0017g0158
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0032g0114
a0001c0001t0032g0204
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0034g0126
a0001c0001t0034g0162
a0001c0001t0069g0012
a0001c0001t0084g0046
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0097g0199
a0001c0001t0098g0147
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0105g0201
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0108g0148
a0001c0001t0110g0127
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0118g0195
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0122g0160
a0001c0001t0123g0123
a0001c0001t0127g0159
a0001c0001t0128g0132
a0001c0001t0134g0154
a0001c0001t0138g0161
a0001c0001t0141g0165
a0001c0002t0049g0048
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0001c0016t0052g0099
a0002c0010t0038g0156
a0006c0012t0129g0140
a0007c0013t0132g0163
 89 HG00099.hp2
HG00280.hp2
HG00423.hp2
others(86): Show 
HG00099.hp2
HG00280.hp2
HG00423.hp2
HG00741.hp1
HG00741.hp2
HG01081.hp2
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01346.hp2
HG01361.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp2
HG01978.hp2
HG01981.hp2
HG02040.hp2
HG02056.hp2
HG02083.hp2
HG02109.hp2
HG02129.hp2
HG02132.hp2
HG02145.hp2
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02572.hp2
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02723.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03688.hp1
HG03688.hp2
HG04184.hp2
HG04199.hp2
HG04204.hp1
NA18940.hp2
NA18945.hp2
NA18948.hp1
NA18950.hp1
NA18961.hp1
NA18967.hp2
NA18978.hp2
NA18983.hp2
NA18987.hp2
NA19009.hp2
NA19060.hp2
NA19065.hp2
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19079.hp2
NA19081.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA21309.hp1
 intron_variant MODIFIER c.1314-9795A>G
c.1314-9795A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 572540
chr17:572682 C
C
 T
T
 99 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(96): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0017g0158
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0032g0114
a0001c0001t0032g0204
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0034g0126
a0001c0001t0034g0162
a0001c0001t0069g0012
a0001c0001t0084g0046
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0097g0199
a0001c0001t0098g0147
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0105g0201
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0108g0148
a0001c0001t0110g0127
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0118g0195
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0122g0160
a0001c0001t0123g0123
a0001c0001t0127g0159
a0001c0001t0128g0132
a0001c0001t0134g0154
a0001c0001t0138g0161
a0001c0001t0141g0165
a0001c0002t0049g0048
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0001c0016t0052g0099
a0002c0010t0038g0156
a0006c0012t0129g0140
a0007c0013t0132g0163
 99 HG00099.hp2
HG00280.hp2
HG00423.hp2
others(96): Show 
HG00099.hp2
HG00280.hp2
HG00423.hp2
HG00741.hp1
HG00741.hp2
HG01081.hp2
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01346.hp2
HG01361.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp2
HG01978.hp2
HG01981.hp2
HG02040.hp2
HG02056.hp2
HG02083.hp2
HG02109.hp2
HG02129.hp2
HG02132.hp2
HG02135.hp2
HG02145.hp2
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02723.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03688.hp1
HG03688.hp2
HG04184.hp2
HG04199.hp2
HG04204.hp1
NA18747.hp1
NA18940.hp2
NA18945.hp2
NA18948.hp1
NA18950.hp1
NA18955.hp2
NA18960.hp2
NA18961.hp1
NA18967.hp2
NA18978.hp2
NA18983.hp2
NA18987.hp2
NA18994.hp2
NA19000.hp2
NA19009.hp2
NA19010.hp2
NA19060.hp2
NA19065.hp2
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19079.hp2
NA19081.hp2
NA19087.hp1
NA19091.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA21309.hp1
 intron_variant MODIFIER c.1314-9937G>A
c.1314-9937G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 572682
chr17:572751 G
G
 A
A
 14 a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
others(11): Show 
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0097g0199
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0105g0201
a0001c0001t0118g0195
a0001c0001t0134g0154
 14 HG01109.hp2
HG01346.hp2
HG01884.hp1
others(11): Show 
HG01109.hp2
HG01346.hp2
HG01884.hp1
HG01891.hp2
HG02572.hp2
HG02622.hp1
HG02622.hp2
HG02723.hp2
HG02818.hp1
HG02922.hp2
HG03139.hp1
HG03139.hp2
NA20129.hp2
NA20300.hp1
 intron_variant MODIFIER c.1314-10006C>T
c.1314-10006C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 572751
chr17:572763 A
A
 T
T
 14 a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
others(11): Show 
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0097g0199
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0105g0201
a0001c0001t0118g0195
a0001c0001t0134g0154
 14 HG01109.hp2
HG01346.hp2
HG01884.hp1
others(11): Show 
HG01109.hp2
HG01346.hp2
HG01884.hp1
HG01891.hp2
HG02572.hp2
HG02622.hp1
HG02622.hp2
HG02723.hp2
HG02818.hp1
HG02922.hp2
HG03139.hp1
HG03139.hp2
NA20129.hp2
NA20300.hp1
 intron_variant MODIFIER c.1314-10018T>A
c.1314-10018T>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 572763
chr17:572791 A
A
 G
G
 134 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(131): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0017g0158
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0032g0114
a0001c0001t0032g0204
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0034g0126
a0001c0001t0034g0162
a0001c0001t0069g0012
a0001c0001t0084g0046
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0097g0199
a0001c0001t0098g0147
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0105g0201
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0108g0148
a0001c0001t0110g0127
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0118g0195
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0122g0160
a0001c0001t0123g0123
a0001c0001t0127g0159
a0001c0001t0128g0132
a0001c0001t0134g0154
a0001c0001t0138g0161
a0001c0001t0141g0165
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0049g0048
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0078g0041
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0001c0014t0135g0166
a0001c0015t0126g0149
a0001c0016t0052g0099
a0002c0003t0073g0068
a0002c0010t0038g0156
a0006c0012t0129g0140
a0007c0013t0132g0163
 134 HG00099.hp2
HG00140.hp2
HG00280.hp1
others(131): Show 
HG00099.hp2
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00423.hp2
HG00621.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp1
HG01258.hp2
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp2
HG02040.hp2
HG02056.hp2
HG02083.hp2
HG02109.hp2
HG02129.hp2
HG02132.hp2
HG02135.hp1
HG02145.hp2
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03688.hp1
HG03688.hp2
HG04184.hp2
HG04199.hp2
HG04204.hp1
HG04204.hp2
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18944.hp1
NA18945.hp2
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18959.hp2
NA18960.hp1
NA18961.hp1
NA18962.hp2
NA18967.hp1
NA18967.hp2
NA18973.hp1
NA18977.hp2
NA18978.hp2
NA18979.hp1
NA18983.hp2
NA18987.hp2
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19060.hp2
NA19065.hp1
NA19065.hp2
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19081.hp2
NA19084.hp1
NA19090.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1314-10046T>C
c.1314-10046T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 572791
chr17:573009 A
A
 T
T
 11 a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
others(8): Show 
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0016t0052g0099
 11 HG00099.hp2
HG00280.hp2
HG01099.hp2
others(8): Show 
HG00099.hp2
HG00280.hp2
HG01099.hp2
HG01168.hp2
HG01175.hp1
HG01515.hp2
HG01981.hp2
HG03491.hp1
HG03492.hp1
HG03688.hp1
NA18948.hp1
 intron_variant MODIFIER c.1314-10264T>A
c.1314-10264T>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 573009
chr17:573111 C
C
 G
G
 77 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(74): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0017g0158
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0032g0114
a0001c0001t0032g0204
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0034g0126
a0001c0001t0034g0162
a0001c0001t0069g0012
a0001c0001t0084g0046
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0097g0199
a0001c0001t0098g0147
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0105g0201
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0108g0148
a0001c0001t0110g0127
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0118g0195
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0122g0160
a0001c0001t0123g0123
a0001c0001t0127g0159
a0001c0001t0128g0132
a0001c0001t0134g0154
a0001c0001t0138g0161
a0001c0001t0141g0165
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0002c0010t0038g0156
a0006c0012t0129g0140
a0007c0013t0132g0163
 77 HG00423.hp2
HG00741.hp1
HG00741.hp2
others(74): Show 
HG00423.hp2
HG00741.hp1
HG00741.hp2
HG01081.hp2
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01346.hp2
HG01361.hp2
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp2
HG01978.hp2
HG02040.hp2
HG02056.hp2
HG02083.hp2
HG02109.hp2
HG02129.hp2
HG02132.hp2
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02572.hp2
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02723.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03492.hp2
HG03516.hp1
HG03688.hp2
HG04184.hp2
HG04199.hp2
HG04204.hp1
NA18940.hp2
NA18945.hp2
NA18950.hp1
NA18961.hp1
NA18967.hp2
NA18978.hp2
NA18983.hp2
NA18987.hp2
NA19009.hp2
NA19060.hp2
NA19065.hp2
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19079.hp2
NA19081.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA21309.hp1
 intron_variant MODIFIER c.1314-10366G>C
c.1314-10366G>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 573111
chr17:573115 T
T
 A
A
 1 a0001c0002t0049g0048
a0001c0002t0049g0048
 1 HG02145.hp2
HG02145.hp2
 intron_variant MODIFIER c.1314-10370A>T
c.1314-10370A>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 573115
chr17:573646 T
T
 C
C
 1 a0001c0001t0002g0128
a0001c0001t0002g0128
 1 HG02129.hp2
HG02129.hp2
 intron_variant MODIFIER c.1314-10901A>G
c.1314-10901A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 573646
chr17:573690 CA
CA
 C
C
 4 a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
others(1): Show 
a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0011t0051g0091
 4 HG01074.hp2
NA18747.hp2
NA18984.hp2
others(1): Show 
HG01074.hp2
NA18747.hp2
NA18984.hp2
NA19064.hp2
 intron_variant MODIFIER c.1314-10946delT
c.1314-10946delT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 573690
chr17:573807 G
G
 A
A
 1 a0001c0011t0051g0091
a0001c0011t0051g0091
 1 HG01074.hp2
HG01074.hp2
 intron_variant MODIFIER c.1314-11062C>T
c.1314-11062C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 573807
chr17:574193 G
G
 A
A
 1 a0001c0002t0001g0056
a0001c0002t0001g0056
 1 HG01167.hp2
HG01167.hp2
 intron_variant MODIFIER c.1314-11448C>T
c.1314-11448C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 574193
chr17:574231 T
T
 C
C
 43 a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
others(40): Show 
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0078g0041
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0002c0003t0073g0068
 43 HG00140.hp2
HG00280.hp1
HG00323.hp1
others(40): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp1
HG00621.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01106.hp1
HG01167.hp2
HG01168.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01361.hp1
HG01496.hp1
HG01978.hp1
HG02135.hp1
HG02738.hp1
HG02886.hp1
HG03516.hp2
HG04204.hp2
NA18906.hp2
NA18940.hp1
NA18944.hp1
NA18946.hp2
NA18948.hp2
NA18959.hp2
NA18960.hp1
NA18962.hp2
NA18967.hp1
NA18973.hp1
NA18977.hp2
NA18979.hp1
NA19007.hp1
NA19009.hp1
NA19065.hp1
NA19070.hp1
NA19079.hp1
NA19084.hp1
NA19090.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1314-11486A>G
c.1314-11486A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 574231
chr17:574337 C
C
 T
T
 2 a0001c0001t0011g0013
a0001c0001t0069g0012
a0001c0001t0011g0013
a0001c0001t0069g0012
 2 HG01361.hp2
NA19079.hp2
HG01361.hp2
NA19079.hp2
 intron_variant MODIFIER c.1314-11592G>A
c.1314-11592G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 574337
chr17:574467 T
T
 C
C
 13 a0001c0001t0017g0158
a0001c0001t0032g0204
a0001c0001t0033g0205
others(10): Show 
a0001c0001t0017g0158
a0001c0001t0032g0204
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0034g0162
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0122g0160
a0001c0001t0127g0159
a0001c0001t0138g0161
a0001c0001t0141g0165
a0002c0010t0038g0156
a0007c0013t0132g0163
 13 HG00741.hp1
HG01106.hp2
HG01109.hp1
others(10): Show 
HG00741.hp1
HG01106.hp2
HG01109.hp1
HG01257.hp1
HG01258.hp2
HG01891.hp1
HG02886.hp2
HG02895.hp2
HG02922.hp1
HG03225.hp1
HG04204.hp1
NA20129.hp1
NA21309.hp1
 intron_variant MODIFIER c.1314-11722A>G
c.1314-11722A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 574467
chr17:574655 CT
CT
 C
C
 2 a0001c0001t0015g0130
a0001c0001t0015g0135
a0001c0001t0015g0130
a0001c0001t0015g0135
 2 HG00423.hp2
NA18961.hp1
HG00423.hp2
NA18961.hp1
 intron_variant MODIFIER c.1313+11614delA
c.1313+11614delA
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 574655
chr17:575098 G
G
 A
A
 1 a0003c0004t0063g0034
a0003c0004t0063g0034
 1 NA19064.hp1
NA19064.hp1
 intron_variant MODIFIER c.1313+11172C>T
c.1313+11172C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 575098
chr17:575210 C
C
 T
T
 1 a0001c0002t0005g0061
a0001c0002t0005g0061
 1 HG02135.hp1
HG02135.hp1
 intron_variant MODIFIER c.1313+11060G>A
c.1313+11060G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 575210
chr17:575291 T
T
 C
C
 1 a0003c0004t0063g0034
a0003c0004t0063g0034
 1 NA19064.hp1
NA19064.hp1
 intron_variant MODIFIER c.1313+10979A>G
c.1313+10979A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 575291
chr17:575371 G
G
 A
A
 13 a0001c0001t0017g0158
a0001c0001t0032g0204
a0001c0001t0033g0205
others(10): Show 
a0001c0001t0017g0158
a0001c0001t0032g0204
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0034g0162
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0122g0160
a0001c0001t0127g0159
a0001c0001t0138g0161
a0001c0001t0141g0165
a0002c0010t0038g0156
a0007c0013t0132g0163
 13 HG00741.hp1
HG01106.hp2
HG01109.hp1
others(10): Show 
HG00741.hp1
HG01106.hp2
HG01109.hp1
HG01257.hp1
HG01258.hp2
HG01891.hp1
HG02886.hp2
HG02895.hp2
HG02922.hp1
HG03225.hp1
HG04204.hp1
NA20129.hp1
NA21309.hp1
 intron_variant MODIFIER c.1313+10899C>T
c.1313+10899C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 575371
chr17:575550 T
T
 C
C
 4 a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
others(1): Show 
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0025g0038
 4 NA18612.hp2
NA18990.hp1
NA19011.hp2
others(1): Show 
NA18612.hp2
NA18990.hp1
NA19011.hp2
NA19068.hp1
 intron_variant MODIFIER c.1313+10720A>G
c.1313+10720A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 575550
chr17:575778 C
C
 CCTCAGAA
others(54): Show 
CCTCAGAACCTAATGCGGTCCCAGAAGACTTCCCTCAGGACCTAATGCGT
TCCTAGAAAACT
 1 a0001c0001t0084g0046
a0001c0001t0084g0046
 1 HG03516.hp1
HG03516.hp1
 intron_variant MODIFIER c.1313+10431_1313+10
others(67): Show 
c.1313+10431_1313+10491dupAGTTTTCTAGGAACGCATTAGGTC
CTGAGGGAAGTCTTCTGGGACCGCATTAGGTTCTGAG
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 575778
chr17:575843 A
A
 C
C
 2 a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0079
a0001c0002t0001g0080
 2 HG00280.hp1
HG00323.hp1
HG00280.hp1
HG00323.hp1
 intron_variant MODIFIER c.1313+10427T>G
c.1313+10427T>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 575843
chr17:576080 G
G
 C
C
 43 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(40): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0034g0126
a0001c0001t0069g0012
a0001c0001t0094g0129
a0001c0001t0107g0212
a0001c0001t0110g0127
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0123g0123
a0001c0001t0128g0132
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0006c0012t0129g0140
 43 HG00423.hp2
HG00741.hp2
HG01081.hp2
others(40): Show 
HG00423.hp2
HG00741.hp2
HG01081.hp2
HG01175.hp2
HG01192.hp2
HG01255.hp2
HG01256.hp2
HG01361.hp2
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp2
HG01928.hp2
HG01978.hp2
HG02040.hp2
HG02056.hp2
HG02083.hp2
HG02129.hp2
HG02132.hp2
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02602.hp2
HG03492.hp2
HG03688.hp2
HG04184.hp2
HG04199.hp2
NA18940.hp2
NA18945.hp2
NA18950.hp1
NA18961.hp1
NA18967.hp2
NA18978.hp2
NA18983.hp2
NA18987.hp2
NA19009.hp2
NA19060.hp2
NA19065.hp2
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19079.hp2
NA19081.hp2
 intron_variant MODIFIER c.1313+10190C>G
c.1313+10190C>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 576080
chr17:576150 A
A
 G
G
 1 a0002c0003t0093g0173
a0002c0003t0093g0173
 1 HG01167.hp1
HG01167.hp1
 intron_variant MODIFIER c.1313+10120T>C
c.1313+10120T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 576150
chr17:576239 T
T
 C
C
 1 a0001c0007t0012g0108
a0001c0007t0012g0108
 1 HG01496.hp2
HG01496.hp2
 intron_variant MODIFIER c.1313+10031A>G
c.1313+10031A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 576239
chr17:576333 G
G
 A
A
 10 a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
others(7): Show 
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
 10 HG02135.hp2
HG02602.hp1
NA18747.hp1
others(7): Show 
HG02135.hp2
HG02602.hp1
NA18747.hp1
NA18955.hp2
NA18960.hp2
NA18994.hp2
NA19000.hp2
NA19010.hp2
NA19087.hp1
NA19091.hp1
 intron_variant MODIFIER c.1313+9937C>T
c.1313+9937C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 576333
chr17:576379 T
T
 C
C
 4 a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
others(1): Show 
a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0011t0051g0091
 4 HG01074.hp2
NA18747.hp2
NA18984.hp2
others(1): Show 
HG01074.hp2
NA18747.hp2
NA18984.hp2
NA19064.hp2
 intron_variant MODIFIER c.1313+9891A>G
c.1313+9891A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 576379
chr17:576397 G
G
 A
A
 43 a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
others(40): Show 
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0078g0041
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0002c0003t0073g0068
 43 HG00140.hp2
HG00280.hp1
HG00323.hp1
others(40): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp1
HG00621.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01106.hp1
HG01167.hp2
HG01168.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01361.hp1
HG01496.hp1
HG01978.hp1
HG02135.hp1
HG02738.hp1
HG02886.hp1
HG03516.hp2
HG04204.hp2
NA18906.hp2
NA18940.hp1
NA18944.hp1
NA18946.hp2
NA18948.hp2
NA18959.hp2
NA18960.hp1
NA18962.hp2
NA18967.hp1
NA18973.hp1
NA18977.hp2
NA18979.hp1
NA19007.hp1
NA19009.hp1
NA19065.hp1
NA19070.hp1
NA19079.hp1
NA19084.hp1
NA19090.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1313+9873C>T
c.1313+9873C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 576397
chr17:576608 C
C
 A
A
 4 a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
others(1): Show 
a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0011t0051g0091
 4 HG01074.hp2
NA18747.hp2
NA18984.hp2
others(1): Show 
HG01074.hp2
NA18747.hp2
NA18984.hp2
NA19064.hp2
 intron_variant MODIFIER c.1313+9662G>T
c.1313+9662G>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 576608
chr17:576721 G
G
 A
A
 10 a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
others(7): Show 
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
 10 HG02135.hp2
HG02602.hp1
NA18747.hp1
others(7): Show 
HG02135.hp2
HG02602.hp1
NA18747.hp1
NA18955.hp2
NA18960.hp2
NA18994.hp2
NA19000.hp2
NA19010.hp2
NA19087.hp1
NA19091.hp1
 intron_variant MODIFIER c.1313+9549C>T
c.1313+9549C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 576721
chr17:576797 A
A
 T
T
 5 a0001c0001t0002g0139
a0001c0001t0016g0118
a0001c0001t0116g0138
others(2): Show 
a0001c0001t0002g0139
a0001c0001t0016g0118
a0001c0001t0116g0138
a0001c0001t0119g0144
a0006c0012t0129g0140
 5 NA18945.hp2
NA18967.hp2
NA18978.hp2
others(2): Show 
NA18945.hp2
NA18967.hp2
NA18978.hp2
NA18987.hp2
NA19070.hp2
 intron_variant MODIFIER c.1313+9473T>A
c.1313+9473T>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 576797
chr17:576856 C
C
 T
T
 2 a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0030g0119
a0001c0001t0030g0120
 2 HG01884.hp2
HG02280.hp2
HG01884.hp2
HG02280.hp2
 intron_variant MODIFIER c.1313+9414G>A
c.1313+9414G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 576856
chr17:577196 C
C
 T
T
 10 a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
others(7): Show 
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
 10 HG02135.hp2
HG02602.hp1
NA18747.hp1
others(7): Show 
HG02135.hp2
HG02602.hp1
NA18747.hp1
NA18955.hp2
NA18960.hp2
NA18994.hp2
NA19000.hp2
NA19010.hp2
NA19087.hp1
NA19091.hp1
 intron_variant MODIFIER c.1313+9074G>A
c.1313+9074G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 577196
chr17:577229 C
C
 A
A
 11 a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
others(8): Show 
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0016t0052g0099
 11 HG00099.hp2
HG00280.hp2
HG01099.hp2
others(8): Show 
HG00099.hp2
HG00280.hp2
HG01099.hp2
HG01168.hp2
HG01175.hp1
HG01515.hp2
HG01981.hp2
HG03491.hp1
HG03492.hp1
HG03688.hp1
NA18948.hp1
 intron_variant MODIFIER c.1313+9041G>T
c.1313+9041G>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 577229
chr17:577398 C
C
 G
G
 11 a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
others(8): Show 
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0016t0052g0099
 11 HG00099.hp2
HG00280.hp2
HG01099.hp2
others(8): Show 
HG00099.hp2
HG00280.hp2
HG01099.hp2
HG01168.hp2
HG01175.hp1
HG01515.hp2
HG01981.hp2
HG03491.hp1
HG03492.hp1
HG03688.hp1
NA18948.hp1
 intron_variant MODIFIER c.1313+8872G>C
c.1313+8872G>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 577398
chr17:577406 C
C
 T
T
 1 a0001c0007t0012g0111
a0001c0007t0012g0111
 1 HG01978.hp2
HG01978.hp2
 intron_variant MODIFIER c.1313+8864G>A
c.1313+8864G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 577406
chr17:577480 C
C
 T
T
 1 a0001c0001t0084g0046
a0001c0001t0084g0046
 1 HG03516.hp1
HG03516.hp1
 intron_variant MODIFIER c.1313+8790G>A
c.1313+8790G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 577480
chr17:577688 G
G
 C
C
 11 a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
others(8): Show 
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0016t0052g0099
 11 HG00099.hp2
HG00280.hp2
HG01099.hp2
others(8): Show 
HG00099.hp2
HG00280.hp2
HG01099.hp2
HG01168.hp2
HG01175.hp1
HG01515.hp2
HG01981.hp2
HG03491.hp1
HG03492.hp1
HG03688.hp1
NA18948.hp1
 intron_variant MODIFIER c.1313+8582C>G
c.1313+8582C>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 577688
chr17:577740 C
C
 T
T
 217 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(214): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0017g0158
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0032g0114
a0001c0001t0032g0204
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0034g0126
a0001c0001t0034g0162
a0001c0001t0069g0012
a0001c0001t0084g0046
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0097g0199
a0001c0001t0098g0147
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0105g0201
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0108g0148
a0001c0001t0110g0127
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0118g0195
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0122g0160
a0001c0001t0123g0123
a0001c0001t0127g0159
a0001c0001t0128g0132
a0001c0001t0134g0154
a0001c0001t0138g0161
a0001c0001t0141g0165
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0001g0094
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0049g0048
a0001c0002t0050g0049
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0065g0093
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0077g0095
a0001c0002t0078g0041
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0001c0011t0051g0091
a0001c0014t0135g0166
a0001c0015t0126g0149
a0001c0016t0052g0099
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0017g0179
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0018g0231
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0073g0068
a0002c0003t0085g0184
a0002c0003t0089g0175
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0099g0192
a0002c0003t0104g0208
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0145g0187
a0002c0003t0146g0170
a0002c0003t0148g0174
a0002c0003t0150g0191
a0002c0010t0038g0156
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
a0004c0008t0036g0207
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
a0006c0012t0129g0140
a0007c0013t0132g0163
 217 HG00099.hp2
HG00140.hp2
HG00280.hp1
others(214): Show 
HG00099.hp2
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp2
HG00621.hp1
HG00621.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02056.hp1
HG02056.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18944.hp1
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18955.hp1
NA18955.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18967.hp1
NA18967.hp2
NA18973.hp1
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18990.hp1
NA18994.hp1
NA18994.hp2
NA19000.hp1
NA19000.hp2
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19087.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1313+8530G>A
c.1313+8530G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 577740
chr17:577752 G
G
 A
A
 5 a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0111g0164
others(2): Show 
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0127g0159
 5 HG01891.hp1
HG02886.hp2
HG02895.hp2
others(2): Show 
HG01891.hp1
HG02886.hp2
HG02895.hp2
HG03225.hp1
NA20129.hp1
 intron_variant MODIFIER c.1313+8518C>T
c.1313+8518C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 577752
chr17:577767 C
C
 G
G
 1 a0006c0012t0129g0140
a0006c0012t0129g0140
 1 NA18978.hp2
NA18978.hp2
 intron_variant MODIFIER c.1313+8503G>C
c.1313+8503G>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 577767
chr17:577947 G
G
 A
A
 1 a0001c0002t0049g0048
a0001c0002t0049g0048
 1 HG02145.hp2
HG02145.hp2
 intron_variant MODIFIER c.1313+8323C>T
c.1313+8323C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 577947
chr17:578075 C
C
 T
T
 1 a0001c0001t0118g0195
a0001c0001t0118g0195
 1 HG01346.hp2
HG01346.hp2
 intron_variant MODIFIER c.1313+8195G>A
c.1313+8195G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 578075
chr17:578174 T
T
 C
C
 1 a0001c0002t0049g0048
a0001c0002t0049g0048
 1 HG02145.hp2
HG02145.hp2
 intron_variant MODIFIER c.1313+8096A>G
c.1313+8096A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 578174
chr17:578241 C
C
 T
T
 4 a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
others(1): Show 
a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0011t0051g0091
 4 HG01074.hp2
NA18747.hp2
NA18984.hp2
others(1): Show 
HG01074.hp2
NA18747.hp2
NA18984.hp2
NA19064.hp2
 intron_variant MODIFIER c.1313+8029G>A
c.1313+8029G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 578241
chr17:578249 CCTCCCTC
others(57): Show 
CCTCCCTCAGAATTTAATGCGTTCCCAGAGAAATTCTCTCAGAACCTAAT
GCGTTCCCAGAGATG
 C
C
 1 a0001c0001t0069g0012
a0001c0001t0069g0012
 1 NA19079.hp2
NA19079.hp2
 intron_variant MODIFIER c.1313+7957_1313+802
others(68): Show 
c.1313+7957_1313+8020delCATCTCTGGGAACGCATTAGGTTCTG
AGAGAATTTCTCTGGGAACGCATTAAATTCTGAGGGAG
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 578249
chr17:578270 T
T
 C
C
 1 a0003c0004t0054g0032
a0003c0004t0054g0032
 1 NA19087.hp2
NA19087.hp2
 intron_variant MODIFIER c.1313+8000A>G
c.1313+8000A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 578270
chr17:578276 G
G
 C
C
 10 a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
others(7): Show 
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
 10 HG02135.hp2
HG02602.hp1
NA18747.hp1
others(7): Show 
HG02135.hp2
HG02602.hp1
NA18747.hp1
NA18955.hp2
NA18960.hp2
NA18994.hp2
NA19000.hp2
NA19010.hp2
NA19087.hp1
NA19091.hp1
 intron_variant MODIFIER c.1313+7994C>G
c.1313+7994C>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 578276
chr17:578302 T
T
 C
C
 1 a0002c0003t0018g0231
a0002c0003t0018g0231
 1 HG03942.hp1
HG03942.hp1
 intron_variant MODIFIER c.1313+7968A>G
c.1313+7968A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 578302
chr17:578364 C
C
 T
T
 18 a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
others(15): Show 
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0097g0199
a0001c0001t0105g0201
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0016t0052g0099
 18 HG00280.hp2
HG01099.hp2
HG01109.hp2
others(15): Show 
HG00280.hp2
HG01099.hp2
HG01109.hp2
HG01168.hp2
HG01175.hp1
HG01515.hp2
HG01884.hp1
HG01981.hp2
HG02622.hp1
HG02622.hp2
HG02723.hp2
HG02818.hp1
HG02922.hp2
HG03139.hp2
HG03491.hp1
HG03492.hp1
HG03688.hp1
NA18948.hp1
 intron_variant MODIFIER c.1313+7906G>A
c.1313+7906G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 578364
chr17:578488 T
T
 C
C
 1 a0001c0002t0049g0048
a0001c0002t0049g0048
 1 HG02145.hp2
HG02145.hp2
 intron_variant MODIFIER c.1313+7782A>G
c.1313+7782A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 578488
chr17:578750 T
T
 C
C
 30 a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
others(27): Show 
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
 30 HG01257.hp2
HG01516.hp2
HG01517.hp1
others(27): Show 
HG01257.hp2
HG01516.hp2
HG01517.hp1
HG02074.hp1
HG02109.hp1
HG03831.hp2
NA18612.hp2
NA18906.hp1
NA18945.hp1
NA18950.hp2
NA18957.hp1
NA18959.hp1
NA18961.hp2
NA18962.hp1
NA18977.hp1
NA18978.hp1
NA18984.hp1
NA18986.hp2
NA18990.hp1
NA18994.hp1
NA19011.hp2
NA19060.hp1
NA19064.hp1
NA19068.hp1
NA19080.hp1
NA19081.hp1
NA19087.hp2
NA19091.hp2
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.1313+7520A>G
c.1313+7520A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 578750
chr17:578910 A
A
 G
G
 4 a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
others(1): Show 
a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0011t0051g0091
 4 HG01074.hp2
NA18747.hp2
NA18984.hp2
others(1): Show 
HG01074.hp2
NA18747.hp2
NA18984.hp2
NA19064.hp2
 intron_variant MODIFIER c.1313+7360T>C
c.1313+7360T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 578910
chr17:578946 G
G
 A
A
 1 a0002c0010t0038g0156
a0002c0010t0038g0156
 1 NA21309.hp1
NA21309.hp1
 intron_variant MODIFIER c.1313+7324C>T
c.1313+7324C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 578946
chr17:578997 C
C
 A
A
 1 a0001c0002t0050g0049
a0001c0002t0050g0049
 1 HG02280.hp1
HG02280.hp1
 intron_variant MODIFIER c.1313+7273G>T
c.1313+7273G>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 578997
chr17:579152 C
C
 CCTCCCTC
others(25): Show 
CCTCCCTCAGAACCTAATGCGTTCCCAGAGAAT
 4 a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
others(1): Show 
a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0011t0051g0091
 4 HG01074.hp2
NA18747.hp2
NA18984.hp2
others(1): Show 
HG01074.hp2
NA18747.hp2
NA18984.hp2
NA19064.hp2
 intron_variant MODIFIER c.1313+7086_1313+711
others(36): Show 
c.1313+7086_1313+7117dupATTCTCTGGGAACGCATTAGGTTCTG
AGGGAG
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 579152
chr17:579153 C
C
 A
A
 11 a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
others(8): Show 
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0016t0052g0099
 11 HG00099.hp2
HG00280.hp2
HG01099.hp2
others(8): Show 
HG00099.hp2
HG00280.hp2
HG01099.hp2
HG01168.hp2
HG01175.hp1
HG01515.hp2
HG01981.hp2
HG03491.hp1
HG03492.hp1
HG03688.hp1
NA18948.hp1
 intron_variant MODIFIER c.1313+7117G>T
c.1313+7117G>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 579153
chr17:579162 A
A
 G
G
 50 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(47): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0032g0114
a0001c0001t0034g0126
a0001c0001t0069g0012
a0001c0001t0084g0046
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0098g0147
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0108g0148
a0001c0001t0110g0127
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0123g0123
a0001c0001t0128g0132
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0006c0012t0129g0140
 50 HG00423.hp2
HG00741.hp2
HG01081.hp2
others(47): Show 
HG00423.hp2
HG00741.hp2
HG01081.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp2
HG01361.hp2
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp2
HG01928.hp2
HG01978.hp2
HG02040.hp2
HG02056.hp2
HG02083.hp2
HG02109.hp2
HG02129.hp2
HG02132.hp2
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02602.hp2
HG02818.hp2
HG02895.hp1
HG03225.hp2
HG03492.hp2
HG03516.hp1
HG03688.hp2
HG04184.hp2
HG04199.hp2
NA18940.hp2
NA18945.hp2
NA18950.hp1
NA18961.hp1
NA18967.hp2
NA18978.hp2
NA18983.hp2
NA18987.hp2
NA19009.hp2
NA19060.hp2
NA19065.hp2
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19079.hp2
NA19081.hp2
NA20300.hp2
 intron_variant MODIFIER c.1313+7108T>C
c.1313+7108T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 579162
chr17:579184 T
T
 C
C
 11 a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
others(8): Show 
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0016t0052g0099
 11 HG00099.hp2
HG00280.hp2
HG01099.hp2
others(8): Show 
HG00099.hp2
HG00280.hp2
HG01099.hp2
HG01168.hp2
HG01175.hp1
HG01515.hp2
HG01981.hp2
HG03491.hp1
HG03492.hp1
HG03688.hp1
NA18948.hp1
 intron_variant MODIFIER c.1313+7086A>G
c.1313+7086A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 579184
chr17:579185 C
C
 ATCCCTCA
others(25): Show 
ATCCCTCAGAACCTAATGCGTTCCCAGAGAACC
 11 a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
others(8): Show 
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0016t0052g0099
 11 HG00099.hp2
HG00280.hp2
HG01099.hp2
others(8): Show 
HG00099.hp2
HG00280.hp2
HG01099.hp2
HG01168.hp2
HG01175.hp1
HG01515.hp2
HG01981.hp2
HG03491.hp1
HG03492.hp1
HG03688.hp1
NA18948.hp1
 intron_variant MODIFIER c.1313+7085_1313+708
others(36): Show 
c.1313+7085_1313+7086insGTTCTCTGGGAACGCATTAGGTTCTG
AGGGAT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 579185
chr17:579194 A
A
 G
G
 1 a0001c0001t0084g0046
a0001c0001t0084g0046
 1 HG03516.hp1
HG03516.hp1
 intron_variant MODIFIER c.1313+7076T>C
c.1313+7076T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 579194
chr17:579204 G
G
 A
A
 2 a0001c0002t0078g0041
a0001c0002t0086g0221
a0001c0002t0078g0041
a0001c0002t0086g0221
 2 HG02145.hp1
HG03516.hp2
HG02145.hp1
HG03516.hp2
 intron_variant MODIFIER c.1313+7066C>T
c.1313+7066C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 579204
chr17:579267 T
T
 C
C
 11 a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
others(8): Show 
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0016t0052g0099
 11 HG00099.hp2
HG00280.hp2
HG01099.hp2
others(8): Show 
HG00099.hp2
HG00280.hp2
HG01099.hp2
HG01168.hp2
HG01175.hp1
HG01515.hp2
HG01981.hp2
HG03491.hp1
HG03492.hp1
HG03688.hp1
NA18948.hp1
 intron_variant MODIFIER c.1313+7003A>G
c.1313+7003A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 579267
chr17:579268 A
A
 G
G
 11 a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
others(8): Show 
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0016t0052g0099
 11 HG00099.hp2
HG00280.hp2
HG01099.hp2
others(8): Show 
HG00099.hp2
HG00280.hp2
HG01099.hp2
HG01168.hp2
HG01175.hp1
HG01515.hp2
HG01981.hp2
HG03491.hp1
HG03492.hp1
HG03688.hp1
NA18948.hp1
 intron_variant MODIFIER c.1313+7002T>C
c.1313+7002T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 579268
chr17:579273 T
T
 C
C
 11 a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
others(8): Show 
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0016t0052g0099
 11 HG00099.hp2
HG00280.hp2
HG01099.hp2
others(8): Show 
HG00099.hp2
HG00280.hp2
HG01099.hp2
HG01168.hp2
HG01175.hp1
HG01515.hp2
HG01981.hp2
HG03491.hp1
HG03492.hp1
HG03688.hp1
NA18948.hp1
 intron_variant MODIFIER c.1313+6997A>G
c.1313+6997A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 579273
chr17:579281 T
T
 C
C
 11 a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
others(8): Show 
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0016t0052g0099
 11 HG00099.hp2
HG00280.hp2
HG01099.hp2
others(8): Show 
HG00099.hp2
HG00280.hp2
HG01099.hp2
HG01168.hp2
HG01175.hp1
HG01515.hp2
HG01981.hp2
HG03491.hp1
HG03492.hp1
HG03688.hp1
NA18948.hp1
 intron_variant MODIFIER c.1313+6989A>G
c.1313+6989A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 579281
chr17:579283 C
C
 T
T
 4 a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
others(1): Show 
a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0011t0051g0091
 4 HG01074.hp2
NA18747.hp2
NA18984.hp2
others(1): Show 
HG01074.hp2
NA18747.hp2
NA18984.hp2
NA19064.hp2
 intron_variant MODIFIER c.1313+6987G>A
c.1313+6987G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 579283
chr17:579383 C
C
 T
T
 1 a0001c0001t0016g0125
a0001c0001t0016g0125
 1 HG02132.hp2
HG02132.hp2
 intron_variant MODIFIER c.1313+6887G>A
c.1313+6887G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 579383
chr17:579403 G
G
 A
A
 50 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(47): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0032g0114
a0001c0001t0034g0126
a0001c0001t0069g0012
a0001c0001t0084g0046
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0098g0147
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0108g0148
a0001c0001t0110g0127
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0123g0123
a0001c0001t0128g0132
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0006c0012t0129g0140
 50 HG00423.hp2
HG00741.hp2
HG01081.hp2
others(47): Show 
HG00423.hp2
HG00741.hp2
HG01081.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp2
HG01361.hp2
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp2
HG01928.hp2
HG01978.hp2
HG02040.hp2
HG02056.hp2
HG02083.hp2
HG02109.hp2
HG02129.hp2
HG02132.hp2
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02602.hp2
HG02818.hp2
HG02895.hp1
HG03225.hp2
HG03492.hp2
HG03516.hp1
HG03688.hp2
HG04184.hp2
HG04199.hp2
NA18940.hp2
NA18945.hp2
NA18950.hp1
NA18961.hp1
NA18967.hp2
NA18978.hp2
NA18983.hp2
NA18987.hp2
NA19009.hp2
NA19060.hp2
NA19065.hp2
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19079.hp2
NA19081.hp2
NA20300.hp2
 intron_variant MODIFIER c.1313+6867C>T
c.1313+6867C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 579403
chr17:579532 C
C
 T
T
 1 a0001c0002t0050g0049
a0001c0002t0050g0049
 1 HG02280.hp1
HG02280.hp1
 intron_variant MODIFIER c.1313+6738G>A
c.1313+6738G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 579532
chr17:579592 G
G
 A
A
 1 a0003c0004t0056g0020
a0003c0004t0056g0020
 1 NA19080.hp1
NA19080.hp1
 intron_variant MODIFIER c.1313+6678C>T
c.1313+6678C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 579592
chr17:579660 C
C
 CCAGAGAA
others(58): Show 
CCAGAGAACCTCCCTCAGAACCTCAGTGCATTACCAGAGAACCACCCTCA
GGACCTAATGCGTTCT
 11 a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
others(8): Show 
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0016t0052g0099
 11 HG00099.hp2
HG00280.hp2
HG01099.hp2
others(8): Show 
HG00099.hp2
HG00280.hp2
HG01099.hp2
HG01168.hp2
HG01175.hp1
HG01515.hp2
HG01981.hp2
HG03491.hp1
HG03492.hp1
HG03688.hp1
NA18948.hp1
 intron_variant MODIFIER c.1313+6545_1313+660
others(69): Show 
c.1313+6545_1313+6609dupAGAACGCATTAGGTCCTGAGGGTGGT
TCTCTGGTAATGCACTGAGGTTCTGAGGGAGGTTCTCTG
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 579660
chr17:579960 C
C
 T
T
 10 a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
others(7): Show 
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
 10 HG02135.hp2
HG02602.hp1
NA18747.hp1
others(7): Show 
HG02135.hp2
HG02602.hp1
NA18747.hp1
NA18955.hp2
NA18960.hp2
NA18994.hp2
NA19000.hp2
NA19010.hp2
NA19087.hp1
NA19091.hp1
 intron_variant MODIFIER c.1313+6310G>A
c.1313+6310G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 579960
chr17:580109 G
G
 T
T
 78 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(75): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0017g0158
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0032g0114
a0001c0001t0032g0204
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0034g0126
a0001c0001t0034g0162
a0001c0001t0069g0012
a0001c0001t0084g0046
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0097g0199
a0001c0001t0098g0147
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0105g0201
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0108g0148
a0001c0001t0110g0127
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0118g0195
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0122g0160
a0001c0001t0123g0123
a0001c0001t0127g0159
a0001c0001t0128g0132
a0001c0001t0134g0154
a0001c0001t0138g0161
a0001c0001t0141g0165
a0001c0002t0049g0048
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0002c0010t0038g0156
a0006c0012t0129g0140
a0007c0013t0132g0163
 78 HG00423.hp2
HG00741.hp1
HG00741.hp2
others(75): Show 
HG00423.hp2
HG00741.hp1
HG00741.hp2
HG01081.hp2
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01346.hp2
HG01361.hp2
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp2
HG01978.hp2
HG02040.hp2
HG02056.hp2
HG02083.hp2
HG02109.hp2
HG02129.hp2
HG02132.hp2
HG02145.hp2
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02572.hp2
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02723.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03492.hp2
HG03516.hp1
HG03688.hp2
HG04184.hp2
HG04199.hp2
HG04204.hp1
NA18940.hp2
NA18945.hp2
NA18950.hp1
NA18961.hp1
NA18967.hp2
NA18978.hp2
NA18983.hp2
NA18987.hp2
NA19009.hp2
NA19060.hp2
NA19065.hp2
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19079.hp2
NA19081.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA21309.hp1
 intron_variant MODIFIER c.1313+6161C>A
c.1313+6161C>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 580109
chr17:580301 G
G
 A
A
 43 a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
others(40): Show 
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0078g0041
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0002c0003t0073g0068
 43 HG00140.hp2
HG00280.hp1
HG00323.hp1
others(40): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp1
HG00621.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01106.hp1
HG01167.hp2
HG01168.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01361.hp1
HG01496.hp1
HG01978.hp1
HG02135.hp1
HG02738.hp1
HG02886.hp1
HG03516.hp2
HG04204.hp2
NA18906.hp2
NA18940.hp1
NA18944.hp1
NA18946.hp2
NA18948.hp2
NA18959.hp2
NA18960.hp1
NA18962.hp2
NA18967.hp1
NA18973.hp1
NA18977.hp2
NA18979.hp1
NA19007.hp1
NA19009.hp1
NA19065.hp1
NA19070.hp1
NA19079.hp1
NA19084.hp1
NA19090.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1313+5969C>T
c.1313+5969C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 580301
chr17:580454 A
A
 AACCTAAT
others(122): Show 
AACCTAATGCGTTCCCAGAGAACCTCCCTCAGAACCTAATGCATTCCCAG
AGAACTTCCCTCAGAACCTAATTCCTTCCCAGAGAACCTCCCTCAGAACC
TCAGTGCATTGCCAGAGAACCTCCCTCAGG
 10 a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
others(7): Show 
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
 10 HG02135.hp2
HG02602.hp1
NA18747.hp1
others(7): Show 
HG02135.hp2
HG02602.hp1
NA18747.hp1
NA18955.hp2
NA18960.hp2
NA18994.hp2
NA19000.hp2
NA19010.hp2
NA19087.hp1
NA19091.hp1
 intron_variant MODIFIER c.1313+5687_1313+581
others(133): Show 
c.1313+5687_1313+5815dupCCTGAGGGAGGTTCTCTGGCAATGCA
CTGAGGTTCTGAGGGAGGTTCTCTGGGAAGGAATTAGGTTCTGAGGGAAG
TTCTCTGGGAATGCATTAGGTTCTGAGGGAGGTTCTCTGGGAACGCATTA
GGT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 580454
chr17:580522 T
T
 C
C
 4 a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
others(1): Show 
a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0011t0051g0091
 4 HG01074.hp2
NA18747.hp2
NA18984.hp2
others(1): Show 
HG01074.hp2
NA18747.hp2
NA18984.hp2
NA19064.hp2
 intron_variant MODIFIER c.1313+5748A>G
c.1313+5748A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 580522
chr17:580592 T
T
 C
C
 103 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(100): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0017g0158
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0032g0114
a0001c0001t0032g0204
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0034g0126
a0001c0001t0034g0162
a0001c0001t0069g0012
a0001c0001t0084g0046
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0097g0199
a0001c0001t0098g0147
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0105g0201
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0108g0148
a0001c0001t0110g0127
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0118g0195
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0122g0160
a0001c0001t0123g0123
a0001c0001t0127g0159
a0001c0001t0128g0132
a0001c0001t0134g0154
a0001c0001t0138g0161
a0001c0001t0141g0165
a0001c0002t0001g0094
a0001c0002t0049g0048
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0001c0011t0051g0091
a0001c0016t0052g0099
a0002c0010t0038g0156
a0006c0012t0129g0140
a0007c0013t0132g0163
 103 HG00099.hp2
HG00280.hp2
HG00423.hp2
others(100): Show 
HG00099.hp2
HG00280.hp2
HG00423.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp2
HG01081.hp2
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01346.hp2
HG01361.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp2
HG01978.hp2
HG01981.hp2
HG02040.hp2
HG02056.hp2
HG02083.hp2
HG02109.hp2
HG02129.hp2
HG02132.hp2
HG02135.hp2
HG02145.hp2
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02723.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03688.hp1
HG03688.hp2
HG04184.hp2
HG04199.hp2
HG04204.hp1
NA18747.hp1
NA18747.hp2
NA18940.hp2
NA18945.hp2
NA18948.hp1
NA18950.hp1
NA18955.hp2
NA18960.hp2
NA18961.hp1
NA18967.hp2
NA18978.hp2
NA18983.hp2
NA18984.hp2
NA18987.hp2
NA18994.hp2
NA19000.hp2
NA19009.hp2
NA19010.hp2
NA19060.hp2
NA19064.hp2
NA19065.hp2
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19079.hp2
NA19081.hp2
NA19087.hp1
NA19091.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA21309.hp1
 intron_variant MODIFIER c.1313+5678A>G
c.1313+5678A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 580592
chr17:580647 G
G
 A
A
 99 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(96): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0017g0158
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0032g0114
a0001c0001t0032g0204
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0034g0126
a0001c0001t0034g0162
a0001c0001t0069g0012
a0001c0001t0084g0046
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0097g0199
a0001c0001t0098g0147
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0105g0201
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0108g0148
a0001c0001t0110g0127
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0118g0195
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0122g0160
a0001c0001t0123g0123
a0001c0001t0127g0159
a0001c0001t0128g0132
a0001c0001t0134g0154
a0001c0001t0138g0161
a0001c0001t0141g0165
a0001c0002t0049g0048
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0001c0016t0052g0099
a0002c0010t0038g0156
a0006c0012t0129g0140
a0007c0013t0132g0163
 99 HG00099.hp2
HG00280.hp2
HG00423.hp2
others(96): Show 
HG00099.hp2
HG00280.hp2
HG00423.hp2
HG00741.hp1
HG00741.hp2
HG01081.hp2
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01346.hp2
HG01361.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp2
HG01978.hp2
HG01981.hp2
HG02040.hp2
HG02056.hp2
HG02083.hp2
HG02109.hp2
HG02129.hp2
HG02132.hp2
HG02135.hp2
HG02145.hp2
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02723.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03688.hp1
HG03688.hp2
HG04184.hp2
HG04199.hp2
HG04204.hp1
NA18747.hp1
NA18940.hp2
NA18945.hp2
NA18948.hp1
NA18950.hp1
NA18955.hp2
NA18960.hp2
NA18961.hp1
NA18967.hp2
NA18978.hp2
NA18983.hp2
NA18987.hp2
NA18994.hp2
NA19000.hp2
NA19009.hp2
NA19010.hp2
NA19060.hp2
NA19065.hp2
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19079.hp2
NA19081.hp2
NA19087.hp1
NA19091.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA21309.hp1
 intron_variant MODIFIER c.1313+5623C>T
c.1313+5623C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 580647
chr17:580720 C
C
 T
T
 1 a0004c0008t0036g0207
a0004c0008t0036g0207
 1 HG00423.hp1
HG00423.hp1
 intron_variant MODIFIER c.1313+5550G>A
c.1313+5550G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 580720
chr17:580725 G
G
 A
A
 3 a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0134g0154
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0134g0154
 3 HG01891.hp2
NA20129.hp2
NA20300.hp1
HG01891.hp2
NA20129.hp2
NA20300.hp1
 intron_variant MODIFIER c.1313+5545C>T
c.1313+5545C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 580725
chr17:580777 C
C
 T
T
 2 a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0075g0051
a0001c0002t0076g0050
 2 NA18973.hp1
NA19070.hp1
NA18973.hp1
NA19070.hp1
 intron_variant MODIFIER c.1313+5493G>A
c.1313+5493G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 580777
chr17:580785 C
C
 T
T
 10 a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
others(7): Show 
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
 10 HG02135.hp2
HG02602.hp1
NA18747.hp1
others(7): Show 
HG02135.hp2
HG02602.hp1
NA18747.hp1
NA18955.hp2
NA18960.hp2
NA18994.hp2
NA19000.hp2
NA19010.hp2
NA19087.hp1
NA19091.hp1
 intron_variant MODIFIER c.1313+5485G>A
c.1313+5485G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 580785
chr17:581323 A
A
 G
G
 38 a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
others(35): Show 
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0017g0179
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0018g0231
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0085g0184
a0002c0003t0089g0175
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0099g0192
a0002c0003t0104g0208
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0145g0187
a0002c0003t0146g0170
a0002c0003t0148g0174
a0002c0003t0150g0191
a0004c0008t0036g0207
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
 38 HG00323.hp2
HG00423.hp1
HG00438.hp2
others(35): Show 
HG00323.hp2
HG00423.hp1
HG00438.hp2
HG00621.hp1
HG01070.hp2
HG01071.hp1
HG01099.hp1
HG01167.hp1
HG01928.hp1
HG01981.hp1
HG02040.hp1
HG02056.hp1
HG02074.hp2
HG02083.hp1
HG02129.hp1
HG02132.hp1
HG02293.hp1
HG02300.hp1
HG02738.hp2
HG03491.hp2
HG03831.hp1
HG03942.hp1
HG04199.hp1
NA18612.hp1
NA18946.hp1
NA18955.hp1
NA18957.hp2
NA18979.hp2
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA19000.hp1
NA19010.hp1
NA19066.hp2
NA19074.hp1
NA19080.hp2
NA19084.hp2
NA19090.hp2
 intron_variant MODIFIER c.1313+4947T>C
c.1313+4947T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 581323
chr17:581385 C
C
 A
A
 10 a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
others(7): Show 
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
 10 HG02135.hp2
HG02602.hp1
NA18747.hp1
others(7): Show 
HG02135.hp2
HG02602.hp1
NA18747.hp1
NA18955.hp2
NA18960.hp2
NA18994.hp2
NA19000.hp2
NA19010.hp2
NA19087.hp1
NA19091.hp1
 intron_variant MODIFIER c.1313+4885G>T
c.1313+4885G>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 581385
chr17:581748 CA
CA
 C
C
 4 a0001c0001t0032g0114
a0001c0001t0095g0145
a0001c0001t0096g0146
others(1): Show 
a0001c0001t0032g0114
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0098g0147
 4 HG02818.hp2
HG02895.hp1
HG03225.hp2
others(1): Show 
HG02818.hp2
HG02895.hp1
HG03225.hp2
NA20300.hp2
 intron_variant MODIFIER c.1313+4521delT
c.1313+4521delT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 581748
chr17:581870 T
T
 C
C
 2 a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0006t0068g0098
a0001c0006t0074g0097
 2 HG01099.hp2
NA18948.hp1
HG01099.hp2
NA18948.hp1
 intron_variant MODIFIER c.1313+4400A>G
c.1313+4400A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 581870
chr17:582148 C
C
 T
T
 38 a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
others(35): Show 
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0017g0179
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0018g0231
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0085g0184
a0002c0003t0089g0175
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0099g0192
a0002c0003t0104g0208
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0145g0187
a0002c0003t0146g0170
a0002c0003t0148g0174
a0002c0003t0150g0191
a0004c0008t0036g0207
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
 38 HG00323.hp2
HG00423.hp1
HG00438.hp2
others(35): Show 
HG00323.hp2
HG00423.hp1
HG00438.hp2
HG00621.hp1
HG01070.hp2
HG01071.hp1
HG01099.hp1
HG01167.hp1
HG01928.hp1
HG01981.hp1
HG02040.hp1
HG02056.hp1
HG02074.hp2
HG02083.hp1
HG02129.hp1
HG02132.hp1
HG02293.hp1
HG02300.hp1
HG02738.hp2
HG03491.hp2
HG03831.hp1
HG03942.hp1
HG04199.hp1
NA18612.hp1
NA18946.hp1
NA18955.hp1
NA18957.hp2
NA18979.hp2
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA19000.hp1
NA19010.hp1
NA19066.hp2
NA19074.hp1
NA19080.hp2
NA19084.hp2
NA19090.hp2
 intron_variant MODIFIER c.1313+4122G>A
c.1313+4122G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 582148
chr17:582151 C
C
 T
T
 38 a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
others(35): Show 
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0017g0179
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0018g0231
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0085g0184
a0002c0003t0089g0175
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0099g0192
a0002c0003t0104g0208
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0145g0187
a0002c0003t0146g0170
a0002c0003t0148g0174
a0002c0003t0150g0191
a0004c0008t0036g0207
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
 38 HG00323.hp2
HG00423.hp1
HG00438.hp2
others(35): Show 
HG00323.hp2
HG00423.hp1
HG00438.hp2
HG00621.hp1
HG01070.hp2
HG01071.hp1
HG01099.hp1
HG01167.hp1
HG01928.hp1
HG01981.hp1
HG02040.hp1
HG02056.hp1
HG02074.hp2
HG02083.hp1
HG02129.hp1
HG02132.hp1
HG02293.hp1
HG02300.hp1
HG02738.hp2
HG03491.hp2
HG03831.hp1
HG03942.hp1
HG04199.hp1
NA18612.hp1
NA18946.hp1
NA18955.hp1
NA18957.hp2
NA18979.hp2
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA19000.hp1
NA19010.hp1
NA19066.hp2
NA19074.hp1
NA19080.hp2
NA19084.hp2
NA19090.hp2
 intron_variant MODIFIER c.1313+4119G>A
c.1313+4119G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 582151
chr17:582163 T
T
 C
C
 38 a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
others(35): Show 
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0017g0179
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0018g0231
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0085g0184
a0002c0003t0089g0175
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0099g0192
a0002c0003t0104g0208
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0145g0187
a0002c0003t0146g0170
a0002c0003t0148g0174
a0002c0003t0150g0191
a0004c0008t0036g0207
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
 38 HG00323.hp2
HG00423.hp1
HG00438.hp2
others(35): Show 
HG00323.hp2
HG00423.hp1
HG00438.hp2
HG00621.hp1
HG01070.hp2
HG01071.hp1
HG01099.hp1
HG01167.hp1
HG01928.hp1
HG01981.hp1
HG02040.hp1
HG02056.hp1
HG02074.hp2
HG02083.hp1
HG02129.hp1
HG02132.hp1
HG02293.hp1
HG02300.hp1
HG02738.hp2
HG03491.hp2
HG03831.hp1
HG03942.hp1
HG04199.hp1
NA18612.hp1
NA18946.hp1
NA18955.hp1
NA18957.hp2
NA18979.hp2
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA19000.hp1
NA19010.hp1
NA19066.hp2
NA19074.hp1
NA19080.hp2
NA19084.hp2
NA19090.hp2
 intron_variant MODIFIER c.1313+4107A>G
c.1313+4107A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 582163
chr17:582167 CCCAGAGA
others(603): Show 
CCCAGAGAACCTCCCTCAGAACCTAATGCATCCCAGAGAACATCACTCAG
AACCTAATGTGTTCCCAGAGAACCTCCCTCAGAACCTCAGTGCATTCTGA
GAACCTCCCTCAAAACCTCAGTGTGTTCCCAGAGAACCTCCCTGAGGACC
TAATGCATTCCCAGAGAACCTCCCTCAGAACCCAATGTGTCCCCAGAGAA
CCTCCCTCACAACCCAGTGCGTTCCCAGAGAACCTCCCTCAGGACCTCAA
TGCGTTCCCACAGAACTTCCCTCATCATCTAATGCATTCCCAAAGAACCT
CCCTCAGAACCTAGTGCATTCCCAGAGAACATCACTCAGGACCCAATGTG
TTCCCAGAGAACCTCCACAGAAGCTCAATGCGTTCCCAGAGAACCTCCTT
CAGACGCTAATGTGTTCCCAGGGAACTTCCCTCAGAACCTCAACGCAGTC
CCAGAGAAACTCCCTCAGACCCTAACGTGTTCCCAGAGAACCTCCCTTAG
AACCCAATGCGTTCCCAGAGAACCTCCCTCAGAACCTAATGCGTTCCGAG
ATAACCTCCCTCAGAATCTCAATGCGTTCCCAGAGAACTTCTCTTAGAAC
CTAATGCGTTT
 C
C
 38 a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
others(35): Show 
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0017g0179
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0018g0231
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0085g0184
a0002c0003t0089g0175
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0099g0192
a0002c0003t0104g0208
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0145g0187
a0002c0003t0146g0170
a0002c0003t0148g0174
a0002c0003t0150g0191
a0004c0008t0036g0207
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
 38 HG00323.hp2
HG00423.hp1
HG00438.hp2
others(35): Show 
HG00323.hp2
HG00423.hp1
HG00438.hp2
HG00621.hp1
HG01070.hp2
HG01071.hp1
HG01099.hp1
HG01167.hp1
HG01928.hp1
HG01981.hp1
HG02040.hp1
HG02056.hp1
HG02074.hp2
HG02083.hp1
HG02129.hp1
HG02132.hp1
HG02293.hp1
HG02300.hp1
HG02738.hp2
HG03491.hp2
HG03831.hp1
HG03942.hp1
HG04199.hp1
NA18612.hp1
NA18946.hp1
NA18955.hp1
NA18957.hp2
NA18979.hp2
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA19000.hp1
NA19010.hp1
NA19066.hp2
NA19074.hp1
NA19080.hp2
NA19084.hp2
NA19090.hp2
 intron_variant MODIFIER c.1313+3493_1313+410
others(4): Show 
c.1313+3493_1313+4102del
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 582167
chr17:582298 G
G
 A
A
 1 a0001c0002t0001g0056
a0001c0002t0001g0056
 1 HG01167.hp2
HG01167.hp2
 intron_variant MODIFIER c.1313+3972C>T
c.1313+3972C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 582298
chr17:582381 C
C
 T
T
 99 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(96): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0017g0158
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0032g0114
a0001c0001t0032g0204
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0034g0126
a0001c0001t0034g0162
a0001c0001t0069g0012
a0001c0001t0084g0046
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0097g0199
a0001c0001t0098g0147
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0105g0201
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0108g0148
a0001c0001t0110g0127
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0118g0195
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0122g0160
a0001c0001t0123g0123
a0001c0001t0127g0159
a0001c0001t0128g0132
a0001c0001t0134g0154
a0001c0001t0138g0161
a0001c0001t0141g0165
a0001c0002t0049g0048
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0001c0016t0052g0099
a0002c0010t0038g0156
a0006c0012t0129g0140
a0007c0013t0132g0163
 99 HG00099.hp2
HG00280.hp2
HG00423.hp2
others(96): Show 
HG00099.hp2
HG00280.hp2
HG00423.hp2
HG00741.hp1
HG00741.hp2
HG01081.hp2
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01346.hp2
HG01361.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp2
HG01978.hp2
HG01981.hp2
HG02040.hp2
HG02056.hp2
HG02083.hp2
HG02109.hp2
HG02129.hp2
HG02132.hp2
HG02135.hp2
HG02145.hp2
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02723.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03688.hp1
HG03688.hp2
HG04184.hp2
HG04199.hp2
HG04204.hp1
NA18747.hp1
NA18940.hp2
NA18945.hp2
NA18948.hp1
NA18950.hp1
NA18955.hp2
NA18960.hp2
NA18961.hp1
NA18967.hp2
NA18978.hp2
NA18983.hp2
NA18987.hp2
NA18994.hp2
NA19000.hp2
NA19009.hp2
NA19010.hp2
NA19060.hp2
NA19065.hp2
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19079.hp2
NA19081.hp2
NA19087.hp1
NA19091.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA21309.hp1
 intron_variant MODIFIER c.1313+3889G>A
c.1313+3889G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 582381
chr17:582386 C
C
 T
T
 89 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(86): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0017g0158
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0032g0114
a0001c0001t0032g0204
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0034g0126
a0001c0001t0034g0162
a0001c0001t0069g0012
a0001c0001t0084g0046
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0097g0199
a0001c0001t0098g0147
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0105g0201
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0108g0148
a0001c0001t0110g0127
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0118g0195
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0122g0160
a0001c0001t0123g0123
a0001c0001t0127g0159
a0001c0001t0128g0132
a0001c0001t0134g0154
a0001c0001t0138g0161
a0001c0001t0141g0165
a0001c0002t0049g0048
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0001c0016t0052g0099
a0002c0010t0038g0156
a0006c0012t0129g0140
a0007c0013t0132g0163
 89 HG00099.hp2
HG00280.hp2
HG00423.hp2
others(86): Show 
HG00099.hp2
HG00280.hp2
HG00423.hp2
HG00741.hp1
HG00741.hp2
HG01081.hp2
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01346.hp2
HG01361.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp2
HG01978.hp2
HG01981.hp2
HG02040.hp2
HG02056.hp2
HG02083.hp2
HG02109.hp2
HG02129.hp2
HG02132.hp2
HG02145.hp2
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02572.hp2
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02723.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03688.hp1
HG03688.hp2
HG04184.hp2
HG04199.hp2
HG04204.hp1
NA18940.hp2
NA18945.hp2
NA18948.hp1
NA18950.hp1
NA18961.hp1
NA18967.hp2
NA18978.hp2
NA18983.hp2
NA18987.hp2
NA19009.hp2
NA19060.hp2
NA19065.hp2
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19079.hp2
NA19081.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA21309.hp1
 intron_variant MODIFIER c.1313+3884G>A
c.1313+3884G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 582386
chr17:582402 C
C
 T
T
 1 a0001c0001t0015g0135
a0001c0001t0015g0135
 1 NA18961.hp1
NA18961.hp1
 intron_variant MODIFIER c.1313+3868G>A
c.1313+3868G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 582402
chr17:582427 C
C
 G
G
 178 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(175): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0017g0158
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0032g0114
a0001c0001t0032g0204
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0034g0126
a0001c0001t0034g0162
a0001c0001t0069g0012
a0001c0001t0084g0046
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0097g0199
a0001c0001t0098g0147
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0105g0201
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0108g0148
a0001c0001t0110g0127
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0118g0195
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0122g0160
a0001c0001t0123g0123
a0001c0001t0127g0159
a0001c0001t0128g0132
a0001c0001t0134g0154
a0001c0001t0138g0161
a0001c0001t0141g0165
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0001g0094
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0049g0048
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0065g0093
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0077g0095
a0001c0002t0078g0041
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0001c0011t0051g0091
a0001c0014t0135g0166
a0001c0015t0126g0149
a0001c0016t0052g0099
a0002c0003t0073g0068
a0002c0010t0038g0156
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
a0006c0012t0129g0140
a0007c0013t0132g0163
 178 HG00099.hp2
HG00140.hp2
HG00280.hp1
others(175): Show 
HG00099.hp2
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00423.hp2
HG00621.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp2
HG02040.hp2
HG02056.hp2
HG02074.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp2
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp2
HG04184.hp2
HG04199.hp2
HG04204.hp1
HG04204.hp2
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18944.hp1
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18955.hp2
NA18957.hp1
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18967.hp1
NA18967.hp2
NA18973.hp1
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18986.hp2
NA18987.hp2
NA18990.hp1
NA18994.hp1
NA18994.hp2
NA19000.hp2
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19011.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19081.hp1
NA19081.hp2
NA19084.hp1
NA19087.hp1
NA19087.hp2
NA19090.hp1
NA19091.hp1
NA19091.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1313+3843G>C
c.1313+3843G>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 582427
chr17:582610 C
C
 T
T
 1 a0001c0002t0050g0049
a0001c0002t0050g0049
 1 HG02280.hp1
HG02280.hp1
 intron_variant MODIFIER c.1313+3660G>A
c.1313+3660G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 582610
chr17:582714 G
G
 A
A
 30 a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
others(27): Show 
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
 30 HG01257.hp2
HG01516.hp2
HG01517.hp1
others(27): Show 
HG01257.hp2
HG01516.hp2
HG01517.hp1
HG02074.hp1
HG02109.hp1
HG03831.hp2
NA18612.hp2
NA18906.hp1
NA18945.hp1
NA18950.hp2
NA18957.hp1
NA18959.hp1
NA18961.hp2
NA18962.hp1
NA18977.hp1
NA18978.hp1
NA18984.hp1
NA18986.hp2
NA18990.hp1
NA18994.hp1
NA19011.hp2
NA19060.hp1
NA19064.hp1
NA19068.hp1
NA19080.hp1
NA19081.hp1
NA19087.hp2
NA19091.hp2
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.1313+3556C>T
c.1313+3556C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 582714
chr17:582932 T
T
 C
C
 10 a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
others(7): Show 
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
 10 HG02135.hp2
HG02602.hp1
NA18747.hp1
others(7): Show 
HG02135.hp2
HG02602.hp1
NA18747.hp1
NA18955.hp2
NA18960.hp2
NA18994.hp2
NA19000.hp2
NA19010.hp2
NA19087.hp1
NA19091.hp1
 intron_variant MODIFIER c.1313+3338A>G
c.1313+3338A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 582932
chr17:583077 T
T
 C
C
 1 a0001c0002t0086g0221
a0001c0002t0086g0221
 1 HG02145.hp1
HG02145.hp1
 intron_variant MODIFIER c.1313+3193A>G
c.1313+3193A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 583077
chr17:583122 T
T
 A
A
 6 a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
others(3): Show 
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0128g0132
 6 HG02040.hp2
HG02056.hp2
HG02083.hp2
others(3): Show 
HG02040.hp2
HG02056.hp2
HG02083.hp2
HG02129.hp2
NA18940.hp2
NA19074.hp2
 intron_variant MODIFIER c.1313+3148A>T
c.1313+3148A>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 583122
chr17:583191 A
A
 G
G
 133 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(130): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0017g0158
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0032g0114
a0001c0001t0032g0204
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0034g0126
a0001c0001t0034g0162
a0001c0001t0069g0012
a0001c0001t0084g0046
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0097g0199
a0001c0001t0098g0147
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0105g0201
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0108g0148
a0001c0001t0110g0127
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0118g0195
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0122g0160
a0001c0001t0123g0123
a0001c0001t0127g0159
a0001c0001t0128g0132
a0001c0001t0134g0154
a0001c0001t0138g0161
a0001c0001t0141g0165
a0001c0002t0001g0094
a0001c0002t0049g0048
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0001c0011t0051g0091
a0001c0016t0052g0099
a0002c0010t0038g0156
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
a0006c0012t0129g0140
a0007c0013t0132g0163
 133 HG00099.hp2
HG00280.hp2
HG00423.hp2
others(130): Show 
HG00099.hp2
HG00280.hp2
HG00423.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp2
HG01081.hp2
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp2
HG01346.hp2
HG01361.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp2
HG01978.hp2
HG01981.hp2
HG02040.hp2
HG02056.hp2
HG02074.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02132.hp2
HG02135.hp2
HG02145.hp2
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02723.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03688.hp1
HG03688.hp2
HG03831.hp2
HG04184.hp2
HG04199.hp2
HG04204.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18940.hp2
NA18945.hp1
NA18945.hp2
NA18948.hp1
NA18950.hp1
NA18950.hp2
NA18955.hp2
NA18957.hp1
NA18959.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18967.hp2
NA18977.hp1
NA18978.hp1
NA18978.hp2
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18986.hp2
NA18987.hp2
NA18990.hp1
NA18994.hp1
NA18994.hp2
NA19000.hp2
NA19009.hp2
NA19010.hp2
NA19011.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19079.hp2
NA19080.hp1
NA19081.hp1
NA19081.hp2
NA19087.hp1
NA19087.hp2
NA19091.hp1
NA19091.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.1313+3079T>C
c.1313+3079T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 583191
chr17:583239 C
C
 T
T
 10 a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
others(7): Show 
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
 10 HG02135.hp2
HG02602.hp1
NA18747.hp1
others(7): Show 
HG02135.hp2
HG02602.hp1
NA18747.hp1
NA18955.hp2
NA18960.hp2
NA18994.hp2
NA19000.hp2
NA19010.hp2
NA19087.hp1
NA19091.hp1
 intron_variant MODIFIER c.1313+3031G>A
c.1313+3031G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 583239
chr17:583246 G
G
 A
A
 1 a0001c0002t0086g0221
a0001c0002t0086g0221
 1 HG02145.hp1
HG02145.hp1
 intron_variant MODIFIER c.1313+3024C>T
c.1313+3024C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 583246
chr17:583324 A
A
 T
T
 4 a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
others(1): Show 
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0025g0038
 4 NA18612.hp2
NA18990.hp1
NA19011.hp2
others(1): Show 
NA18612.hp2
NA18990.hp1
NA19011.hp2
NA19068.hp1
 intron_variant MODIFIER c.1313+2946T>A
c.1313+2946T>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 583324
chr17:583378 C
C
 T
T
 1 a0003c0004t0081g0035
a0003c0004t0081g0035
 1 NA21309.hp2
NA21309.hp2
 intron_variant MODIFIER c.1313+2892G>A
c.1313+2892G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 583378
chr17:583379 G
G
 A
A
 42 a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
others(39): Show 
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0078g0041
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0002c0003t0073g0068
 42 HG00140.hp2
HG00280.hp1
HG00323.hp1
others(39): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp1
HG00621.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01106.hp1
HG01167.hp2
HG01168.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01361.hp1
HG01496.hp1
HG01978.hp1
HG02135.hp1
HG02886.hp1
HG03516.hp2
HG04204.hp2
NA18906.hp2
NA18940.hp1
NA18944.hp1
NA18946.hp2
NA18948.hp2
NA18959.hp2
NA18960.hp1
NA18962.hp2
NA18967.hp1
NA18973.hp1
NA18977.hp2
NA18979.hp1
NA19007.hp1
NA19009.hp1
NA19065.hp1
NA19070.hp1
NA19079.hp1
NA19084.hp1
NA19090.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1313+2891C>T
c.1313+2891C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 583379
chr17:583389 G
G
 T
T
 11 a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
others(8): Show 
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0016t0052g0099
 11 HG00099.hp2
HG00280.hp2
HG01099.hp2
others(8): Show 
HG00099.hp2
HG00280.hp2
HG01099.hp2
HG01168.hp2
HG01175.hp1
HG01515.hp2
HG01981.hp2
HG03491.hp1
HG03492.hp1
HG03688.hp1
NA18948.hp1
 intron_variant MODIFIER c.1313+2881C>A
c.1313+2881C>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 583389
chr17:583526 AGAACTTT
others(25): Show 
AGAACTTTCCTCAGAACCTAATGCGTTCCCAGG
 A
A
 7 a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
others(4): Show 
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
 7 HG02135.hp2
HG02602.hp1
NA18747.hp1
others(4): Show 
HG02135.hp2
HG02602.hp1
NA18747.hp1
NA18955.hp2
NA18960.hp2
NA18994.hp2
NA19010.hp2
 intron_variant MODIFIER c.1313+2712_1313+274
others(36): Show 
c.1313+2712_1313+2743delCCTGGGAACGCATTAGGTTCTGAGGA
AAGTTC
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 583526
chr17:583581 C
C
 A
A
 11 a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
others(8): Show 
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0016t0052g0099
 11 HG00099.hp2
HG00280.hp2
HG01099.hp2
others(8): Show 
HG00099.hp2
HG00280.hp2
HG01099.hp2
HG01168.hp2
HG01175.hp1
HG01515.hp2
HG01981.hp2
HG03491.hp1
HG03492.hp1
HG03688.hp1
NA18948.hp1
 intron_variant MODIFIER c.1313+2689G>T
c.1313+2689G>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 583581
chr17:583818 G
G
 T
T
 10 a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
others(7): Show 
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
 10 HG02135.hp2
HG02602.hp1
NA18747.hp1
others(7): Show 
HG02135.hp2
HG02602.hp1
NA18747.hp1
NA18955.hp2
NA18960.hp2
NA18994.hp2
NA19000.hp2
NA19010.hp2
NA19087.hp1
NA19091.hp1
 intron_variant MODIFIER c.1313+2452C>A
c.1313+2452C>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 583818
chr17:584064 A
A
 G
G
 1 a0001c0002t0014g0077
a0001c0002t0014g0077
 1 NA18967.hp1
NA18967.hp1
 intron_variant MODIFIER c.1313+2206T>C
c.1313+2206T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 584064
chr17:584197 G
G
 A
A
 217 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(214): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0017g0158
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0032g0114
a0001c0001t0032g0204
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0034g0126
a0001c0001t0034g0162
a0001c0001t0069g0012
a0001c0001t0084g0046
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0097g0199
a0001c0001t0098g0147
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0105g0201
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0108g0148
a0001c0001t0110g0127
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0118g0195
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0122g0160
a0001c0001t0123g0123
a0001c0001t0127g0159
a0001c0001t0128g0132
a0001c0001t0134g0154
a0001c0001t0138g0161
a0001c0001t0141g0165
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0001g0094
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0049g0048
a0001c0002t0050g0049
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0065g0093
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0077g0095
a0001c0002t0078g0041
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0001c0011t0051g0091
a0001c0014t0135g0166
a0001c0015t0126g0149
a0001c0016t0052g0099
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0017g0179
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0018g0231
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0073g0068
a0002c0003t0085g0184
a0002c0003t0089g0175
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0099g0192
a0002c0003t0104g0208
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0145g0187
a0002c0003t0146g0170
a0002c0003t0148g0174
a0002c0003t0150g0191
a0002c0010t0038g0156
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
a0004c0008t0036g0207
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
a0006c0012t0129g0140
a0007c0013t0132g0163
 217 HG00099.hp2
HG00140.hp2
HG00280.hp1
others(214): Show 
HG00099.hp2
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp2
HG00621.hp1
HG00621.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02056.hp1
HG02056.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18944.hp1
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18955.hp1
NA18955.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18967.hp1
NA18967.hp2
NA18973.hp1
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18990.hp1
NA18994.hp1
NA18994.hp2
NA19000.hp1
NA19000.hp2
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19087.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1313+2073C>T
c.1313+2073C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 584197
chr17:584356 C
C
 T
T
 8 a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
others(5): Show 
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0097g0199
a0001c0001t0105g0201
 8 HG01109.hp2
HG01884.hp1
HG02622.hp1
others(5): Show 
HG01109.hp2
HG01884.hp1
HG02622.hp1
HG02622.hp2
HG02723.hp2
HG02818.hp1
HG02922.hp2
HG03139.hp2
 intron_variant MODIFIER c.1313+1914G>A
c.1313+1914G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 584356
chr17:584485 G
G
 A
A
 2 a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0075g0051
a0001c0002t0076g0050
 2 NA18973.hp1
NA19070.hp1
NA18973.hp1
NA19070.hp1
 intron_variant MODIFIER c.1313+1785C>T
c.1313+1785C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 584485
chr17:584526 G
G
 T
T
 1 a0001c0002t0058g0052
a0001c0002t0058g0052
 1 NA18979.hp1
NA18979.hp1
 intron_variant MODIFIER c.1313+1744C>A
c.1313+1744C>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 584526
chr17:584809 A
A
 T
T
 10 a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
others(7): Show 
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
 10 HG02135.hp2
HG02602.hp1
NA18747.hp1
others(7): Show 
HG02135.hp2
HG02602.hp1
NA18747.hp1
NA18955.hp2
NA18960.hp2
NA18994.hp2
NA19000.hp2
NA19010.hp2
NA19087.hp1
NA19091.hp1
 intron_variant MODIFIER c.1313+1461T>A
c.1313+1461T>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 584809
chr17:584852 T
T
 C
C
 1 a0001c0001t0002g0121
a0001c0001t0002g0121
 1 NA18983.hp2
NA18983.hp2
 intron_variant MODIFIER c.1313+1418A>G
c.1313+1418A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 584852
chr17:585020 G
G
 A
A
 107 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(104): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0017g0158
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0032g0114
a0001c0001t0032g0204
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0034g0126
a0001c0001t0034g0162
a0001c0001t0069g0012
a0001c0001t0084g0046
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0097g0199
a0001c0001t0098g0147
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0105g0201
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0108g0148
a0001c0001t0110g0127
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0118g0195
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0122g0160
a0001c0001t0123g0123
a0001c0001t0127g0159
a0001c0001t0128g0132
a0001c0001t0134g0154
a0001c0001t0138g0161
a0001c0001t0141g0165
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0002c0010t0038g0156
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
a0006c0012t0129g0140
a0007c0013t0132g0163
 107 HG00423.hp2
HG00741.hp1
HG00741.hp2
others(104): Show 
HG00423.hp2
HG00741.hp1
HG00741.hp2
HG01081.hp2
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp2
HG01346.hp2
HG01361.hp2
HG01496.hp2
HG01515.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp2
HG01978.hp2
HG02040.hp2
HG02056.hp2
HG02074.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02132.hp2
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02572.hp2
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02723.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03492.hp2
HG03516.hp1
HG03688.hp2
HG03831.hp2
HG04184.hp2
HG04199.hp2
HG04204.hp1
NA18612.hp2
NA18906.hp1
NA18940.hp2
NA18945.hp1
NA18945.hp2
NA18950.hp1
NA18950.hp2
NA18957.hp1
NA18959.hp1
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18967.hp2
NA18977.hp1
NA18978.hp1
NA18978.hp2
NA18983.hp2
NA18984.hp1
NA18986.hp2
NA18987.hp2
NA18990.hp1
NA18994.hp1
NA19009.hp2
NA19011.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19065.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19079.hp2
NA19080.hp1
NA19081.hp1
NA19081.hp2
NA19087.hp2
NA19091.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.1313+1250C>T
c.1313+1250C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 585020
chr17:585042 C
C
 T
T
 4 a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
others(1): Show 
a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0011t0051g0091
 4 HG01074.hp2
NA18747.hp2
NA18984.hp2
others(1): Show 
HG01074.hp2
NA18747.hp2
NA18984.hp2
NA19064.hp2
 intron_variant MODIFIER c.1313+1228G>A
c.1313+1228G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 585042
chr17:585238 G
G
 A
A
 2 a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0026g0059
a0001c0002t0026g0060
 2 HG01256.hp1
HG01258.hp1
HG01256.hp1
HG01258.hp1
 intron_variant MODIFIER c.1313+1032C>T
c.1313+1032C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 585238
chr17:585275 T
T
 C
C
 1 a0007c0013t0132g0163
a0007c0013t0132g0163
 1 HG04204.hp1
HG04204.hp1
 intron_variant MODIFIER c.1313+995A>G
c.1313+995A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 585275
chr17:585278 T
T
 C
C
 43 a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
others(40): Show 
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0078g0041
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0002c0003t0073g0068
 43 HG00140.hp2
HG00280.hp1
HG00323.hp1
others(40): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp1
HG00621.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01106.hp1
HG01167.hp2
HG01168.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01361.hp1
HG01496.hp1
HG01978.hp1
HG02135.hp1
HG02738.hp1
HG02886.hp1
HG03516.hp2
HG04204.hp2
NA18906.hp2
NA18940.hp1
NA18944.hp1
NA18946.hp2
NA18948.hp2
NA18959.hp2
NA18960.hp1
NA18962.hp2
NA18967.hp1
NA18973.hp1
NA18977.hp2
NA18979.hp1
NA19007.hp1
NA19009.hp1
NA19065.hp1
NA19070.hp1
NA19079.hp1
NA19084.hp1
NA19090.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1313+992A>G
c.1313+992A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 585278
chr17:585348 G
G
 A
A
 1 a0001c0001t0118g0195
a0001c0001t0118g0195
 1 HG01346.hp2
HG01346.hp2
 intron_variant MODIFIER c.1313+922C>T
c.1313+922C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 585348
chr17:585349 T
T
 C
C
 1 a0001c0001t0084g0046
a0001c0001t0084g0046
 1 HG03516.hp1
HG03516.hp1
 intron_variant MODIFIER c.1313+921A>G
c.1313+921A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 585349
chr17:585366 T
T
 A
A
 218 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(215): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0017g0158
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0032g0114
a0001c0001t0032g0204
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0034g0126
a0001c0001t0034g0162
a0001c0001t0069g0012
a0001c0001t0084g0046
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0097g0199
a0001c0001t0098g0147
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0105g0201
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0108g0148
a0001c0001t0110g0127
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0118g0195
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0122g0160
a0001c0001t0123g0123
a0001c0001t0127g0159
a0001c0001t0128g0132
a0001c0001t0134g0154
a0001c0001t0138g0161
a0001c0001t0141g0165
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0001g0094
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0049g0048
a0001c0002t0050g0049
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0065g0093
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0077g0095
a0001c0002t0078g0041
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0002t0086g0221
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0001c0011t0051g0091
a0001c0014t0135g0166
a0001c0015t0126g0149
a0001c0016t0052g0099
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0017g0179
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0018g0231
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0073g0068
a0002c0003t0085g0184
a0002c0003t0089g0175
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0099g0192
a0002c0003t0104g0208
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0145g0187
a0002c0003t0146g0170
a0002c0003t0148g0174
a0002c0003t0150g0191
a0002c0010t0038g0156
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
a0004c0008t0036g0207
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
a0006c0012t0129g0140
a0007c0013t0132g0163
 218 HG00099.hp2
HG00140.hp2
HG00280.hp1
others(215): Show 
HG00099.hp2
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp2
HG00621.hp1
HG00621.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02056.hp1
HG02056.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18944.hp1
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18955.hp1
NA18955.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18967.hp1
NA18967.hp2
NA18973.hp1
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18990.hp1
NA18994.hp1
NA18994.hp2
NA19000.hp1
NA19000.hp2
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19087.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1313+904A>T
c.1313+904A>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 585366
chr17:585485 A
A
 C
C
 216 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(213): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0017g0158
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0032g0114
a0001c0001t0032g0204
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0034g0126
a0001c0001t0034g0162
a0001c0001t0069g0012
a0001c0001t0084g0046
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0097g0199
a0001c0001t0098g0147
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0105g0201
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0108g0148
a0001c0001t0110g0127
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0118g0195
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0122g0160
a0001c0001t0123g0123
a0001c0001t0127g0159
a0001c0001t0128g0132
a0001c0001t0134g0154
a0001c0001t0138g0161
a0001c0001t0141g0165
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0001g0094
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0049g0048
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0065g0093
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0077g0095
a0001c0002t0078g0041
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0001c0011t0051g0091
a0001c0014t0135g0166
a0001c0015t0126g0149
a0001c0016t0052g0099
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0017g0179
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0018g0231
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0073g0068
a0002c0003t0085g0184
a0002c0003t0089g0175
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0099g0192
a0002c0003t0104g0208
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0145g0187
a0002c0003t0146g0170
a0002c0003t0148g0174
a0002c0003t0150g0191
a0002c0010t0038g0156
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
a0004c0008t0036g0207
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
a0006c0012t0129g0140
a0007c0013t0132g0163
 216 HG00099.hp2
HG00140.hp2
HG00280.hp1
others(213): Show 
HG00099.hp2
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp2
HG00621.hp1
HG00621.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02056.hp1
HG02056.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp2
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18944.hp1
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18955.hp1
NA18955.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18967.hp1
NA18967.hp2
NA18973.hp1
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18990.hp1
NA18994.hp1
NA18994.hp2
NA19000.hp1
NA19000.hp2
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19087.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1313+785T>G
c.1313+785T>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 585485
chr17:585555 T
T
 C
C
 107 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(104): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0017g0158
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0032g0114
a0001c0001t0032g0204
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0034g0126
a0001c0001t0034g0162
a0001c0001t0069g0012
a0001c0001t0084g0046
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0097g0199
a0001c0001t0098g0147
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0105g0201
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0108g0148
a0001c0001t0110g0127
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0118g0195
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0122g0160
a0001c0001t0123g0123
a0001c0001t0127g0159
a0001c0001t0128g0132
a0001c0001t0134g0154
a0001c0001t0138g0161
a0001c0001t0141g0165
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0002c0010t0038g0156
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
a0006c0012t0129g0140
a0007c0013t0132g0163
 107 HG00423.hp2
HG00741.hp1
HG00741.hp2
others(104): Show 
HG00423.hp2
HG00741.hp1
HG00741.hp2
HG01081.hp2
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp2
HG01346.hp2
HG01361.hp2
HG01496.hp2
HG01515.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp2
HG01978.hp2
HG02040.hp2
HG02056.hp2
HG02074.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02132.hp2
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02572.hp2
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02723.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03492.hp2
HG03516.hp1
HG03688.hp2
HG03831.hp2
HG04184.hp2
HG04199.hp2
HG04204.hp1
NA18612.hp2
NA18906.hp1
NA18940.hp2
NA18945.hp1
NA18945.hp2
NA18950.hp1
NA18950.hp2
NA18957.hp1
NA18959.hp1
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18967.hp2
NA18977.hp1
NA18978.hp1
NA18978.hp2
NA18983.hp2
NA18984.hp1
NA18986.hp2
NA18987.hp2
NA18990.hp1
NA18994.hp1
NA19009.hp2
NA19011.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19065.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19079.hp2
NA19080.hp1
NA19081.hp1
NA19081.hp2
NA19087.hp2
NA19091.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.1313+715A>G
c.1313+715A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 585555
chr17:585633 C
C
 T
T
 30 a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
others(27): Show 
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
 30 HG01257.hp2
HG01516.hp2
HG01517.hp1
others(27): Show 
HG01257.hp2
HG01516.hp2
HG01517.hp1
HG02074.hp1
HG02109.hp1
HG03831.hp2
NA18612.hp2
NA18906.hp1
NA18945.hp1
NA18950.hp2
NA18957.hp1
NA18959.hp1
NA18961.hp2
NA18962.hp1
NA18977.hp1
NA18978.hp1
NA18984.hp1
NA18986.hp2
NA18990.hp1
NA18994.hp1
NA19011.hp2
NA19060.hp1
NA19064.hp1
NA19068.hp1
NA19080.hp1
NA19081.hp1
NA19087.hp2
NA19091.hp2
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.1313+637G>A
c.1313+637G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 585633
chr17:585716 T
T
 A
A
 2 a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0075g0051
a0001c0002t0076g0050
 2 NA18973.hp1
NA19070.hp1
NA18973.hp1
NA19070.hp1
 intron_variant MODIFIER c.1313+554A>T
c.1313+554A>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 585716
chr17:585803 C
C
 G
G
 118 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(115): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0017g0158
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0032g0114
a0001c0001t0032g0204
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0034g0126
a0001c0001t0034g0162
a0001c0001t0069g0012
a0001c0001t0084g0046
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0097g0199
a0001c0001t0098g0147
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0105g0201
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0108g0148
a0001c0001t0110g0127
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0118g0195
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0122g0160
a0001c0001t0123g0123
a0001c0001t0127g0159
a0001c0001t0128g0132
a0001c0001t0134g0154
a0001c0001t0138g0161
a0001c0001t0141g0165
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0001c0016t0052g0099
a0002c0010t0038g0156
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
a0006c0012t0129g0140
a0007c0013t0132g0163
 118 HG00099.hp2
HG00280.hp2
HG00423.hp2
others(115): Show 
HG00099.hp2
HG00280.hp2
HG00423.hp2
HG00741.hp1
HG00741.hp2
HG01081.hp2
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp2
HG01346.hp2
HG01361.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp2
HG01978.hp2
HG01981.hp2
HG02040.hp2
HG02056.hp2
HG02074.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02132.hp2
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02572.hp2
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02723.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03688.hp1
HG03688.hp2
HG03831.hp2
HG04184.hp2
HG04199.hp2
HG04204.hp1
NA18612.hp2
NA18906.hp1
NA18940.hp2
NA18945.hp1
NA18945.hp2
NA18948.hp1
NA18950.hp1
NA18950.hp2
NA18957.hp1
NA18959.hp1
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18967.hp2
NA18977.hp1
NA18978.hp1
NA18978.hp2
NA18983.hp2
NA18984.hp1
NA18986.hp2
NA18987.hp2
NA18990.hp1
NA18994.hp1
NA19009.hp2
NA19011.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19065.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19079.hp2
NA19080.hp1
NA19081.hp1
NA19081.hp2
NA19087.hp2
NA19091.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.1313+467G>C
c.1313+467G>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 585803
chr17:586056 C
C
 G
G
 11 a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
others(8): Show 
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0016t0052g0099
 11 HG00099.hp2
HG00280.hp2
HG01099.hp2
others(8): Show 
HG00099.hp2
HG00280.hp2
HG01099.hp2
HG01168.hp2
HG01175.hp1
HG01515.hp2
HG01981.hp2
HG03491.hp1
HG03492.hp1
HG03688.hp1
NA18948.hp1
 intron_variant MODIFIER c.1313+214G>C
c.1313+214G>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 586056
chr17:586146 G
G
 A
A
 1 a0002c0003t0093g0173
a0002c0003t0093g0173
 1 HG01167.hp1
HG01167.hp1
 intron_variant MODIFIER c.1313+124C>T
c.1313+124C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 586146
chr17:586170 C
C
 T
T
 1 a0001c0001t0115g0136
a0001c0001t0115g0136
 1 HG03492.hp2
HG03492.hp2
 intron_variant MODIFIER c.1313+100G>A
c.1313+100G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 586170
chr17:586191 A
A
 C
C
 38 a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
others(35): Show 
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0017g0179
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0018g0231
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0085g0184
a0002c0003t0089g0175
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0099g0192
a0002c0003t0104g0208
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0145g0187
a0002c0003t0146g0170
a0002c0003t0148g0174
a0002c0003t0150g0191
a0004c0008t0036g0207
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
 38 HG00323.hp2
HG00423.hp1
HG00438.hp2
others(35): Show 
HG00323.hp2
HG00423.hp1
HG00438.hp2
HG00621.hp1
HG01070.hp2
HG01071.hp1
HG01099.hp1
HG01167.hp1
HG01928.hp1
HG01981.hp1
HG02040.hp1
HG02056.hp1
HG02074.hp2
HG02083.hp1
HG02129.hp1
HG02132.hp1
HG02293.hp1
HG02300.hp1
HG02738.hp2
HG03491.hp2
HG03831.hp1
HG03942.hp1
HG04199.hp1
NA18612.hp1
NA18946.hp1
NA18955.hp1
NA18957.hp2
NA18979.hp2
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA19000.hp1
NA19010.hp1
NA19066.hp2
NA19074.hp1
NA19080.hp2
NA19084.hp2
NA19090.hp2
 intron_variant MODIFIER c.1313+79T>G
c.1313+79T>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 13/21 chr17 586191
chr17:586691 A
A
 G
G
 1 a0001c0001t0108g0148
a0001c0001t0108g0148
 1 HG01192.hp1
HG01192.hp1
 intron_variant MODIFIER c.1219-327T>C
c.1219-327T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 586691
chr17:586726 C
C
 A
A
 4 a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
others(1): Show 
a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0011t0051g0091
 4 HG01074.hp2
NA18747.hp2
NA18984.hp2
others(1): Show 
HG01074.hp2
NA18747.hp2
NA18984.hp2
NA19064.hp2
 intron_variant MODIFIER c.1219-362G>T
c.1219-362G>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 586726
chr17:586776 C
C
 A
A
 14 a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
others(11): Show 
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0097g0199
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0105g0201
a0001c0001t0118g0195
a0001c0001t0134g0154
 14 HG01109.hp2
HG01346.hp2
HG01884.hp1
others(11): Show 
HG01109.hp2
HG01346.hp2
HG01884.hp1
HG01891.hp2
HG02572.hp2
HG02622.hp1
HG02622.hp2
HG02723.hp2
HG02818.hp1
HG02922.hp2
HG03139.hp1
HG03139.hp2
NA20129.hp2
NA20300.hp1
 intron_variant MODIFIER c.1219-412G>T
c.1219-412G>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 586776
chr17:587051 A
A
 C
C
 2 a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0011g0105
a0001c0007t0011g0106
 2 HG01515.hp1
HG01517.hp2
HG01515.hp1
HG01517.hp2
 intron_variant MODIFIER c.1219-687T>G
c.1219-687T>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 587051
chr17:587068 T
T
 C
C
 1 a0001c0002t0049g0048
a0001c0002t0049g0048
 1 HG02145.hp2
HG02145.hp2
 intron_variant MODIFIER c.1219-704A>G
c.1219-704A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 587068
chr17:587089 G
G
 A
A
 1 a0001c0002t0055g0084
a0001c0002t0055g0084
 1 NA18906.hp2
NA18906.hp2
 intron_variant MODIFIER c.1219-725C>T
c.1219-725C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 587089
chr17:587216 C
C
 G
G
 108 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(105): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0017g0158
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0032g0114
a0001c0001t0032g0204
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0034g0126
a0001c0001t0034g0162
a0001c0001t0069g0012
a0001c0001t0084g0046
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0097g0199
a0001c0001t0098g0147
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0105g0201
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0108g0148
a0001c0001t0110g0127
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0118g0195
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0122g0160
a0001c0001t0123g0123
a0001c0001t0127g0159
a0001c0001t0128g0132
a0001c0001t0134g0154
a0001c0001t0138g0161
a0001c0001t0141g0165
a0001c0002t0049g0048
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0002c0010t0038g0156
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
a0006c0012t0129g0140
a0007c0013t0132g0163
 108 HG00423.hp2
HG00741.hp1
HG00741.hp2
others(105): Show 
HG00423.hp2
HG00741.hp1
HG00741.hp2
HG01081.hp2
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp2
HG01346.hp2
HG01361.hp2
HG01496.hp2
HG01515.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp2
HG01978.hp2
HG02040.hp2
HG02056.hp2
HG02074.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02132.hp2
HG02145.hp2
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02572.hp2
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02723.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03492.hp2
HG03516.hp1
HG03688.hp2
HG03831.hp2
HG04184.hp2
HG04199.hp2
HG04204.hp1
NA18612.hp2
NA18906.hp1
NA18940.hp2
NA18945.hp1
NA18945.hp2
NA18950.hp1
NA18950.hp2
NA18957.hp1
NA18959.hp1
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18967.hp2
NA18977.hp1
NA18978.hp1
NA18978.hp2
NA18983.hp2
NA18984.hp1
NA18986.hp2
NA18987.hp2
NA18990.hp1
NA18994.hp1
NA19009.hp2
NA19011.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19065.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19079.hp2
NA19080.hp1
NA19081.hp1
NA19081.hp2
NA19087.hp2
NA19091.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.1219-852G>C
c.1219-852G>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 587216
chr17:587466 A
A
 G
G
 1 a0001c0011t0051g0091
a0001c0011t0051g0091
 1 HG01074.hp2
HG01074.hp2
 intron_variant MODIFIER c.1219-1102T>C
c.1219-1102T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 587466
chr17:587616 A
A
 G
G
 93 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(90): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0017g0158
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0032g0114
a0001c0001t0032g0204
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0034g0126
a0001c0001t0034g0162
a0001c0001t0069g0012
a0001c0001t0084g0046
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0098g0147
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0108g0148
a0001c0001t0110g0127
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0122g0160
a0001c0001t0123g0123
a0001c0001t0127g0159
a0001c0001t0128g0132
a0001c0001t0138g0161
a0001c0001t0141g0165
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0002c0010t0038g0156
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
a0006c0012t0129g0140
a0007c0013t0132g0163
 93 HG00423.hp2
HG00741.hp1
HG00741.hp2
others(90): Show 
HG00423.hp2
HG00741.hp1
HG00741.hp2
HG01081.hp2
HG01106.hp2
HG01109.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp2
HG01361.hp2
HG01496.hp2
HG01515.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp2
HG01891.hp1
HG01928.hp2
HG01978.hp2
HG02040.hp2
HG02056.hp2
HG02074.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02132.hp2
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02602.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG03225.hp1
HG03225.hp2
HG03492.hp2
HG03516.hp1
HG03688.hp2
HG03831.hp2
HG04184.hp2
HG04199.hp2
HG04204.hp1
NA18612.hp2
NA18906.hp1
NA18940.hp2
NA18945.hp1
NA18945.hp2
NA18950.hp1
NA18950.hp2
NA18957.hp1
NA18959.hp1
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18967.hp2
NA18977.hp1
NA18978.hp1
NA18978.hp2
NA18983.hp2
NA18984.hp1
NA18986.hp2
NA18987.hp2
NA18990.hp1
NA18994.hp1
NA19009.hp2
NA19011.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19065.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19079.hp2
NA19080.hp1
NA19081.hp1
NA19081.hp2
NA19087.hp2
NA19091.hp2
NA20129.hp1
NA20300.hp2
NA20805.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.1219-1252T>C
c.1219-1252T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 587616
chr17:587737 G
G
 A
A
 13 a0001c0001t0017g0158
a0001c0001t0032g0204
a0001c0001t0033g0205
others(10): Show 
a0001c0001t0017g0158
a0001c0001t0032g0204
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0034g0162
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0122g0160
a0001c0001t0127g0159
a0001c0001t0138g0161
a0001c0001t0141g0165
a0002c0010t0038g0156
a0007c0013t0132g0163
 13 HG00741.hp1
HG01106.hp2
HG01109.hp1
others(10): Show 
HG00741.hp1
HG01106.hp2
HG01109.hp1
HG01257.hp1
HG01258.hp2
HG01891.hp1
HG02886.hp2
HG02895.hp2
HG02922.hp1
HG03225.hp1
HG04204.hp1
NA20129.hp1
NA21309.hp1
 intron_variant MODIFIER c.1219-1373C>T
c.1219-1373C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 587737
chr17:587766 C
C
 T
T
 119 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(116): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0017g0158
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0032g0114
a0001c0001t0032g0204
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0034g0126
a0001c0001t0034g0162
a0001c0001t0069g0012
a0001c0001t0084g0046
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0097g0199
a0001c0001t0098g0147
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0105g0201
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0108g0148
a0001c0001t0110g0127
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0118g0195
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0122g0160
a0001c0001t0123g0123
a0001c0001t0127g0159
a0001c0001t0128g0132
a0001c0001t0134g0154
a0001c0001t0138g0161
a0001c0001t0141g0165
a0001c0002t0049g0048
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0001c0016t0052g0099
a0002c0010t0038g0156
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
a0006c0012t0129g0140
a0007c0013t0132g0163
 119 HG00099.hp2
HG00280.hp2
HG00423.hp2
others(116): Show 
HG00099.hp2
HG00280.hp2
HG00423.hp2
HG00741.hp1
HG00741.hp2
HG01081.hp2
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp2
HG01346.hp2
HG01361.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp2
HG01978.hp2
HG01981.hp2
HG02040.hp2
HG02056.hp2
HG02074.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02132.hp2
HG02145.hp2
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02572.hp2
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02723.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03688.hp1
HG03688.hp2
HG03831.hp2
HG04184.hp2
HG04199.hp2
HG04204.hp1
NA18612.hp2
NA18906.hp1
NA18940.hp2
NA18945.hp1
NA18945.hp2
NA18948.hp1
NA18950.hp1
NA18950.hp2
NA18957.hp1
NA18959.hp1
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18967.hp2
NA18977.hp1
NA18978.hp1
NA18978.hp2
NA18983.hp2
NA18984.hp1
NA18986.hp2
NA18987.hp2
NA18990.hp1
NA18994.hp1
NA19009.hp2
NA19011.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19065.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19079.hp2
NA19080.hp1
NA19081.hp1
NA19081.hp2
NA19087.hp2
NA19091.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.1219-1402G>A
c.1219-1402G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 587766
chr17:587769 A
A
 G
G
 119 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(116): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0017g0158
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0032g0114
a0001c0001t0032g0204
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0034g0126
a0001c0001t0034g0162
a0001c0001t0069g0012
a0001c0001t0084g0046
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0097g0199
a0001c0001t0098g0147
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0105g0201
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0108g0148
a0001c0001t0110g0127
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0118g0195
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0122g0160
a0001c0001t0123g0123
a0001c0001t0127g0159
a0001c0001t0128g0132
a0001c0001t0134g0154
a0001c0001t0138g0161
a0001c0001t0141g0165
a0001c0002t0049g0048
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0001c0016t0052g0099
a0002c0010t0038g0156
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
a0006c0012t0129g0140
a0007c0013t0132g0163
 119 HG00099.hp2
HG00280.hp2
HG00423.hp2
others(116): Show 
HG00099.hp2
HG00280.hp2
HG00423.hp2
HG00741.hp1
HG00741.hp2
HG01081.hp2
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp2
HG01346.hp2
HG01361.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp2
HG01978.hp2
HG01981.hp2
HG02040.hp2
HG02056.hp2
HG02074.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02132.hp2
HG02145.hp2
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02572.hp2
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02723.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03688.hp1
HG03688.hp2
HG03831.hp2
HG04184.hp2
HG04199.hp2
HG04204.hp1
NA18612.hp2
NA18906.hp1
NA18940.hp2
NA18945.hp1
NA18945.hp2
NA18948.hp1
NA18950.hp1
NA18950.hp2
NA18957.hp1
NA18959.hp1
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18967.hp2
NA18977.hp1
NA18978.hp1
NA18978.hp2
NA18983.hp2
NA18984.hp1
NA18986.hp2
NA18987.hp2
NA18990.hp1
NA18994.hp1
NA19009.hp2
NA19011.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19065.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19079.hp2
NA19080.hp1
NA19081.hp1
NA19081.hp2
NA19087.hp2
NA19091.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.1219-1405T>C
c.1219-1405T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 587769
chr17:588011 T
T
 C
C
 1 a0001c0002t0049g0048
a0001c0002t0049g0048
 1 HG02145.hp2
HG02145.hp2
 intron_variant MODIFIER c.1219-1647A>G
c.1219-1647A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 588011
chr17:588123 A
A
 C
C
 1 a0001c0001t0108g0148
a0001c0001t0108g0148
 1 HG01192.hp1
HG01192.hp1
 intron_variant MODIFIER c.1219-1759T>G
c.1219-1759T>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 588123
chr17:588318 A
A
 AAAAC
AAAAC
 11 a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
others(8): Show 
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0016t0052g0099
 11 HG00099.hp2
HG00280.hp2
HG01099.hp2
others(8): Show 
HG00099.hp2
HG00280.hp2
HG01099.hp2
HG01168.hp2
HG01175.hp1
HG01515.hp2
HG01981.hp2
HG03491.hp1
HG03492.hp1
HG03688.hp1
NA18948.hp1
 intron_variant MODIFIER c.1219-1958_1219-195
others(8): Show 
c.1219-1958_1219-1955dupGTTT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 588318
chr17:588416 T
T
 G
G
 1 a0003c0004t0025g0038
a0003c0004t0025g0038
 1 NA19068.hp1
NA19068.hp1
 intron_variant MODIFIER c.1219-2052A>C
c.1219-2052A>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 588416
chr17:588459 A
A
 T
T
 2 a0001c0001t0002g0139
a0002c0003t0145g0187
a0001c0001t0002g0139
a0002c0003t0145g0187
 2 HG04199.hp1
NA19070.hp2
HG04199.hp1
NA19070.hp2
 intron_variant MODIFIER c.1219-2095T>A
c.1219-2095T>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 588459
chr17:588484 A
A
 G
G
 38 a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
others(35): Show 
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0017g0179
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0018g0231
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0085g0184
a0002c0003t0089g0175
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0099g0192
a0002c0003t0104g0208
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0145g0187
a0002c0003t0146g0170
a0002c0003t0148g0174
a0002c0003t0150g0191
a0004c0008t0036g0207
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
 38 HG00323.hp2
HG00423.hp1
HG00438.hp2
others(35): Show 
HG00323.hp2
HG00423.hp1
HG00438.hp2
HG00621.hp1
HG01070.hp2
HG01071.hp1
HG01099.hp1
HG01167.hp1
HG01928.hp1
HG01981.hp1
HG02040.hp1
HG02056.hp1
HG02074.hp2
HG02083.hp1
HG02129.hp1
HG02132.hp1
HG02293.hp1
HG02300.hp1
HG02738.hp2
HG03491.hp2
HG03831.hp1
HG03942.hp1
HG04199.hp1
NA18612.hp1
NA18946.hp1
NA18955.hp1
NA18957.hp2
NA18979.hp2
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA19000.hp1
NA19010.hp1
NA19066.hp2
NA19074.hp1
NA19080.hp2
NA19084.hp2
NA19090.hp2
 intron_variant MODIFIER c.1219-2120T>C
c.1219-2120T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 588484
chr17:588973 GTC
GTC
 G
G
 89 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(86): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0017g0158
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0032g0114
a0001c0001t0032g0204
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0034g0126
a0001c0001t0034g0162
a0001c0001t0069g0012
a0001c0001t0084g0046
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0097g0199
a0001c0001t0098g0147
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0105g0201
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0108g0148
a0001c0001t0110g0127
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0118g0195
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0122g0160
a0001c0001t0123g0123
a0001c0001t0127g0159
a0001c0001t0128g0132
a0001c0001t0134g0154
a0001c0001t0138g0161
a0001c0001t0141g0165
a0001c0002t0049g0048
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0001c0016t0052g0099
a0002c0010t0038g0156
a0006c0012t0129g0140
a0007c0013t0132g0163
 89 HG00099.hp2
HG00280.hp2
HG00423.hp2
others(86): Show 
HG00099.hp2
HG00280.hp2
HG00423.hp2
HG00741.hp1
HG00741.hp2
HG01081.hp2
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01346.hp2
HG01361.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp2
HG01978.hp2
HG01981.hp2
HG02040.hp2
HG02056.hp2
HG02083.hp2
HG02109.hp2
HG02129.hp2
HG02132.hp2
HG02145.hp2
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02572.hp2
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02723.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03688.hp1
HG03688.hp2
HG04184.hp2
HG04199.hp2
HG04204.hp1
NA18940.hp2
NA18945.hp2
NA18948.hp1
NA18950.hp1
NA18961.hp1
NA18967.hp2
NA18978.hp2
NA18983.hp2
NA18987.hp2
NA19009.hp2
NA19060.hp2
NA19065.hp2
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19079.hp2
NA19081.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA21309.hp1
 intron_variant MODIFIER c.1219-2611_1219-261
others(6): Show 
c.1219-2611_1219-2610delGA
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 588973
chr17:589119 T
T
 C
C
 1 a0001c0001t0016g0125
a0001c0001t0016g0125
 1 HG02132.hp2
HG02132.hp2
 intron_variant MODIFIER c.1219-2755A>G
c.1219-2755A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 589119
chr17:589217 T
T
 G
G
 2 a0001c0001t0034g0162
a0001c0001t0141g0165
a0001c0001t0034g0162
a0001c0001t0141g0165
 2 HG01106.hp2
HG01109.hp1
HG01106.hp2
HG01109.hp1
 intron_variant MODIFIER c.1219-2853A>C
c.1219-2853A>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 589217
chr17:589567 A
A
 G
G
 2 a0001c0014t0135g0166
a0001c0015t0126g0149
a0001c0014t0135g0166
a0001c0015t0126g0149
 2 HG02572.hp1
HG02723.hp1
HG02572.hp1
HG02723.hp1
 intron_variant MODIFIER c.1219-3203T>C
c.1219-3203T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 589567
chr17:589669 T
T
 C
C
 1 a0001c0002t0109g0222
a0001c0002t0109g0222
 1 HG00099.hp1
HG00099.hp1
 intron_variant MODIFIER c.1219-3305A>G
c.1219-3305A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 589669
chr17:589702 T
T
 C
C
 1 a0001c0001t0031g0155
a0001c0001t0031g0155
 1 HG01891.hp2
HG01891.hp2
 intron_variant MODIFIER c.1219-3338A>G
c.1219-3338A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 589702
chr17:589813 T
T
 C
C
 1 a0003c0004t0004g0014
a0003c0004t0004g0014
 1 NA18957.hp1
NA18957.hp1
 intron_variant MODIFIER c.1219-3449A>G
c.1219-3449A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 589813
chr17:589851 G
G
 C
C
 4 a0001c0001t0032g0114
a0001c0001t0095g0145
a0001c0001t0096g0146
others(1): Show 
a0001c0001t0032g0114
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0098g0147
 4 HG02818.hp2
HG02895.hp1
HG03225.hp2
others(1): Show 
HG02818.hp2
HG02895.hp1
HG03225.hp2
NA20300.hp2
 intron_variant MODIFIER c.1219-3487C>G
c.1219-3487C>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 589851
chr17:589935 G
G
 C
C
 4 a0001c0001t0032g0114
a0001c0001t0095g0145
a0001c0001t0096g0146
others(1): Show 
a0001c0001t0032g0114
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0098g0147
 4 HG02818.hp2
HG02895.hp1
HG03225.hp2
others(1): Show 
HG02818.hp2
HG02895.hp1
HG03225.hp2
NA20300.hp2
 intron_variant MODIFIER c.1219-3571C>G
c.1219-3571C>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 589935
chr17:589969 G
G
 T
T
 1 a0003c0004t0005g0028
a0003c0004t0005g0028
 1 NA18945.hp1
NA18945.hp1
 intron_variant MODIFIER c.1219-3605C>A
c.1219-3605C>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 589969
chr17:589985 G
G
 A
A
 1 a0002c0003t0018g0214
a0002c0003t0018g0214
 1 HG00621.hp1
HG00621.hp1
 intron_variant MODIFIER c.1219-3621C>T
c.1219-3621C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 589985
chr17:590010 A
A
 T
T
 99 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(96): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0017g0158
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0032g0114
a0001c0001t0032g0204
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0034g0126
a0001c0001t0034g0162
a0001c0001t0069g0012
a0001c0001t0084g0046
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0097g0199
a0001c0001t0098g0147
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0105g0201
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0108g0148
a0001c0001t0110g0127
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0118g0195
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0122g0160
a0001c0001t0123g0123
a0001c0001t0127g0159
a0001c0001t0128g0132
a0001c0001t0134g0154
a0001c0001t0138g0161
a0001c0001t0141g0165
a0001c0002t0049g0048
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0001c0016t0052g0099
a0002c0010t0038g0156
a0006c0012t0129g0140
a0007c0013t0132g0163
 99 HG00099.hp2
HG00280.hp2
HG00423.hp2
others(96): Show 
HG00099.hp2
HG00280.hp2
HG00423.hp2
HG00741.hp1
HG00741.hp2
HG01081.hp2
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01346.hp2
HG01361.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp2
HG01978.hp2
HG01981.hp2
HG02040.hp2
HG02056.hp2
HG02083.hp2
HG02109.hp2
HG02129.hp2
HG02132.hp2
HG02135.hp2
HG02145.hp2
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02723.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03688.hp1
HG03688.hp2
HG04184.hp2
HG04199.hp2
HG04204.hp1
NA18747.hp1
NA18940.hp2
NA18945.hp2
NA18948.hp1
NA18950.hp1
NA18955.hp2
NA18960.hp2
NA18961.hp1
NA18967.hp2
NA18978.hp2
NA18983.hp2
NA18987.hp2
NA18994.hp2
NA19000.hp2
NA19009.hp2
NA19010.hp2
NA19060.hp2
NA19065.hp2
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19079.hp2
NA19081.hp2
NA19087.hp1
NA19091.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA21309.hp1
 intron_variant MODIFIER c.1219-3646T>A
c.1219-3646T>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 590010
chr17:590023 C
C
 T
T
 98 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(95): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0017g0158
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0032g0114
a0001c0001t0032g0204
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0034g0126
a0001c0001t0034g0162
a0001c0001t0069g0012
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0097g0199
a0001c0001t0098g0147
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0105g0201
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0108g0148
a0001c0001t0110g0127
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0118g0195
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0122g0160
a0001c0001t0123g0123
a0001c0001t0127g0159
a0001c0001t0128g0132
a0001c0001t0134g0154
a0001c0001t0138g0161
a0001c0001t0141g0165
a0001c0002t0049g0048
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0001c0016t0052g0099
a0002c0010t0038g0156
a0006c0012t0129g0140
a0007c0013t0132g0163
 98 HG00099.hp2
HG00280.hp2
HG00423.hp2
others(95): Show 
HG00099.hp2
HG00280.hp2
HG00423.hp2
HG00741.hp1
HG00741.hp2
HG01081.hp2
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01346.hp2
HG01361.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp2
HG01978.hp2
HG01981.hp2
HG02040.hp2
HG02056.hp2
HG02083.hp2
HG02109.hp2
HG02129.hp2
HG02132.hp2
HG02135.hp2
HG02145.hp2
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02723.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03688.hp1
HG03688.hp2
HG04184.hp2
HG04199.hp2
HG04204.hp1
NA18747.hp1
NA18940.hp2
NA18945.hp2
NA18948.hp1
NA18950.hp1
NA18955.hp2
NA18960.hp2
NA18961.hp1
NA18967.hp2
NA18978.hp2
NA18983.hp2
NA18987.hp2
NA18994.hp2
NA19000.hp2
NA19009.hp2
NA19010.hp2
NA19060.hp2
NA19065.hp2
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19079.hp2
NA19081.hp2
NA19087.hp1
NA19091.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA21309.hp1
 intron_variant MODIFIER c.1219-3659G>A
c.1219-3659G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 590023
chr17:590101 T
T
 C
C
 44 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(41): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0034g0126
a0001c0001t0069g0012
a0001c0001t0094g0129
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0110g0127
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0123g0123
a0001c0001t0128g0132
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0006c0012t0129g0140
 44 HG00423.hp2
HG00741.hp2
HG01081.hp2
others(41): Show 
HG00423.hp2
HG00741.hp2
HG01081.hp2
HG01175.hp2
HG01192.hp2
HG01255.hp2
HG01256.hp2
HG01361.hp2
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp2
HG01928.hp2
HG01978.hp2
HG02040.hp2
HG02056.hp2
HG02083.hp2
HG02109.hp2
HG02129.hp2
HG02132.hp2
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02602.hp2
HG03492.hp2
HG03688.hp2
HG04184.hp2
HG04199.hp2
NA18940.hp2
NA18945.hp2
NA18950.hp1
NA18961.hp1
NA18967.hp2
NA18978.hp2
NA18983.hp2
NA18987.hp2
NA19009.hp2
NA19060.hp2
NA19065.hp2
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19079.hp2
NA19081.hp2
 intron_variant MODIFIER c.1219-3737A>G
c.1219-3737A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 590101
chr17:590226 T
T
 G
G
 4 a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
others(1): Show 
a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0011t0051g0091
 4 HG01074.hp2
NA18747.hp2
NA18984.hp2
others(1): Show 
HG01074.hp2
NA18747.hp2
NA18984.hp2
NA19064.hp2
 intron_variant MODIFIER c.1219-3862A>C
c.1219-3862A>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 590226
chr17:590255 T
T
 G
G
 1 a0001c0002t0049g0048
a0001c0002t0049g0048
 1 HG02145.hp2
HG02145.hp2
 intron_variant MODIFIER c.1219-3891A>C
c.1219-3891A>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 590255
chr17:590542 G
G
 A
A
 89 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(86): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0017g0158
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0032g0114
a0001c0001t0032g0204
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0034g0126
a0001c0001t0034g0162
a0001c0001t0069g0012
a0001c0001t0084g0046
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0097g0199
a0001c0001t0098g0147
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0105g0201
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0108g0148
a0001c0001t0110g0127
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0118g0195
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0122g0160
a0001c0001t0123g0123
a0001c0001t0127g0159
a0001c0001t0128g0132
a0001c0001t0134g0154
a0001c0001t0138g0161
a0001c0001t0141g0165
a0001c0002t0049g0048
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0001c0016t0052g0099
a0002c0010t0038g0156
a0006c0012t0129g0140
a0007c0013t0132g0163
 89 HG00099.hp2
HG00280.hp2
HG00423.hp2
others(86): Show 
HG00099.hp2
HG00280.hp2
HG00423.hp2
HG00741.hp1
HG00741.hp2
HG01081.hp2
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01346.hp2
HG01361.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp2
HG01978.hp2
HG01981.hp2
HG02040.hp2
HG02056.hp2
HG02083.hp2
HG02109.hp2
HG02129.hp2
HG02132.hp2
HG02145.hp2
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02572.hp2
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02723.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03688.hp1
HG03688.hp2
HG04184.hp2
HG04199.hp2
HG04204.hp1
NA18940.hp2
NA18945.hp2
NA18948.hp1
NA18950.hp1
NA18961.hp1
NA18967.hp2
NA18978.hp2
NA18983.hp2
NA18987.hp2
NA19009.hp2
NA19060.hp2
NA19065.hp2
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19079.hp2
NA19081.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA21309.hp1
 intron_variant MODIFIER c.1219-4178C>T
c.1219-4178C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 590542
chr17:590546 C
C
 T
T
 4 a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
others(1): Show 
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0094g0129
 4 HG00423.hp2
NA18950.hp1
NA18961.hp1
others(1): Show 
HG00423.hp2
NA18950.hp1
NA18961.hp1
NA19060.hp2
 intron_variant MODIFIER c.1219-4182G>A
c.1219-4182G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 590546
chr17:590655 G
G
 A
A
 1 a0001c0002t0055g0084
a0001c0002t0055g0084
 1 NA18906.hp2
NA18906.hp2
 intron_variant MODIFIER c.1219-4291C>T
c.1219-4291C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 590655
chr17:590772 T
T
 C
C
 149 a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
others(146): Show 
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0001g0094
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0017g0225
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0035g0219
a0001c0002t0038g0224
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0050g0049
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0065g0093
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0077g0095
a0001c0002t0078g0041
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0002t0086g0221
a0001c0002t0100g0223
a0001c0002t0109g0222
a0001c0002t0125g0116
a0001c0002t0143g0226
a0001c0002t0149g0202
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0011t0051g0091
a0001c0014t0135g0166
a0001c0015t0126g0149
a0001c0016t0052g0099
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0017g0179
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0018g0231
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0073g0068
a0002c0003t0085g0184
a0002c0003t0089g0175
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0099g0192
a0002c0003t0104g0208
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0145g0187
a0002c0003t0146g0170
a0002c0003t0148g0174
a0002c0003t0150g0191
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
a0004c0008t0035g0203
a0004c0008t0036g0207
a0004c0008t0103g0227
a0004c0008t0124g0229
a0004c0008t0133g0232
a0004c0008t0142g0228
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
 149 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(146): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00621.hp1
HG00621.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01255.hp1
HG01256.hp1
HG01257.hp2
HG01258.hp1
HG01346.hp1
HG01361.hp1
HG01496.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01928.hp1
HG01978.hp1
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02056.hp1
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02109.hp1
HG02129.hp1
HG02132.hp1
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02280.hp1
HG02293.hp1
HG02300.hp1
HG02572.hp1
HG02602.hp1
HG02723.hp1
HG02738.hp1
HG02738.hp2
HG02886.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03516.hp2
HG03688.hp1
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04199.hp1
HG04204.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18946.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18955.hp1
NA18955.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18967.hp1
NA18973.hp1
NA18973.hp2
NA18977.hp2
NA18978.hp1
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18987.hp1
NA18990.hp1
NA18990.hp2
NA18994.hp1
NA18994.hp2
NA19000.hp1
NA19000.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19060.hp1
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19070.hp1
NA19074.hp1
NA19079.hp1
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19087.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1219-4408A>G
c.1219-4408A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 590772
chr17:590926 T
T
 C
C
 2 a0001c0001t0087g0198
a0001c0001t0105g0201
a0001c0001t0087g0198
a0001c0001t0105g0201
 2 HG01109.hp2
HG02818.hp1
HG01109.hp2
HG02818.hp1
 intron_variant MODIFIER c.1219-4562A>G
c.1219-4562A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 590926
chr17:591021 G
G
 A
A
 1 a0001c0002t0078g0041
a0001c0002t0078g0041
 1 HG03516.hp2
HG03516.hp2
 intron_variant MODIFIER c.1219-4657C>T
c.1219-4657C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 591021
chr17:591069 C
C
 T
T
 98 a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
others(95): Show 
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0017g0225
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0035g0219
a0001c0002t0038g0224
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0050g0049
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0078g0041
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0002t0086g0221
a0001c0002t0100g0223
a0001c0002t0109g0222
a0001c0002t0125g0116
a0001c0002t0143g0226
a0001c0002t0149g0202
a0001c0014t0135g0166
a0001c0015t0126g0149
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0017g0179
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0018g0231
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0073g0068
a0002c0003t0085g0184
a0002c0003t0089g0175
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0099g0192
a0002c0003t0104g0208
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0145g0187
a0002c0003t0146g0170
a0002c0003t0148g0174
a0002c0003t0150g0191
a0004c0008t0035g0203
a0004c0008t0036g0207
a0004c0008t0103g0227
a0004c0008t0124g0229
a0004c0008t0133g0232
a0004c0008t0142g0228
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
 98 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(95): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00621.hp1
HG00621.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01099.hp1
HG01106.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01346.hp1
HG01361.hp1
HG01496.hp1
HG01516.hp1
HG01928.hp1
HG01978.hp1
HG01981.hp1
HG02040.hp1
HG02056.hp1
HG02074.hp2
HG02083.hp1
HG02129.hp1
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02280.hp1
HG02293.hp1
HG02300.hp1
HG02572.hp1
HG02723.hp1
HG02738.hp1
HG02738.hp2
HG02886.hp1
HG03491.hp2
HG03516.hp2
HG03831.hp1
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04199.hp1
HG04204.hp2
NA18612.hp1
NA18906.hp2
NA18940.hp1
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp2
NA18955.hp1
NA18957.hp2
NA18959.hp2
NA18960.hp1
NA18962.hp2
NA18967.hp1
NA18973.hp1
NA18973.hp2
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA18990.hp2
NA19000.hp1
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19010.hp1
NA19011.hp1
NA19065.hp1
NA19066.hp1
NA19066.hp2
NA19070.hp1
NA19074.hp1
NA19079.hp1
NA19080.hp2
NA19084.hp1
NA19084.hp2
NA19090.hp1
NA19090.hp2
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1219-4705G>A
c.1219-4705G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 591069
chr17:591122 G
G
 A
A
 1 a0001c0001t0098g0147
a0001c0001t0098g0147
 1 HG02818.hp2
HG02818.hp2
 intron_variant MODIFIER c.1219-4758C>T
c.1219-4758C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 591122
chr17:591198 T
T
 C
C
 4 a0001c0001t0032g0114
a0001c0001t0095g0145
a0001c0001t0096g0146
others(1): Show 
a0001c0001t0032g0114
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0098g0147
 4 HG02818.hp2
HG02895.hp1
HG03225.hp2
others(1): Show 
HG02818.hp2
HG02895.hp1
HG03225.hp2
NA20300.hp2
 intron_variant MODIFIER c.1219-4834A>G
c.1219-4834A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 591198
chr17:591272 T
T
 C
C
 1 a0001c0001t0084g0046
a0001c0001t0084g0046
 1 HG03516.hp1
HG03516.hp1
 intron_variant MODIFIER c.1219-4908A>G
c.1219-4908A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 591272
chr17:591288 G
G
 C
C
 1 a0001c0001t0113g0122
a0001c0001t0113g0122
 1 HG00741.hp2
HG00741.hp2
 intron_variant MODIFIER c.1219-4924C>G
c.1219-4924C>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 591288
chr17:591387 G
G
 A
A
 1 a0001c0002t0035g0219
a0001c0002t0035g0219
 1 HG00438.hp1
HG00438.hp1
 intron_variant MODIFIER c.1219-5023C>T
c.1219-5023C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 591387
chr17:591388 C
C
 T
T
 142 a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
others(139): Show 
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0001g0094
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0017g0225
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0035g0219
a0001c0002t0038g0224
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0050g0049
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0065g0093
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0077g0095
a0001c0002t0078g0041
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0002t0086g0221
a0001c0002t0100g0223
a0001c0002t0109g0222
a0001c0002t0125g0116
a0001c0002t0143g0226
a0001c0002t0149g0202
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0011t0051g0091
a0001c0014t0135g0166
a0001c0015t0126g0149
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0017g0179
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0018g0231
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0073g0068
a0002c0003t0085g0184
a0002c0003t0089g0175
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0099g0192
a0002c0003t0104g0208
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0145g0187
a0002c0003t0146g0170
a0002c0003t0148g0174
a0002c0003t0150g0191
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
a0004c0008t0035g0203
a0004c0008t0036g0207
a0004c0008t0103g0227
a0004c0008t0124g0229
a0004c0008t0133g0232
a0004c0008t0142g0228
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
 142 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(139): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00621.hp1
HG00621.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01099.hp1
HG01106.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01255.hp1
HG01256.hp1
HG01257.hp2
HG01258.hp1
HG01346.hp1
HG01361.hp1
HG01496.hp1
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01928.hp1
HG01978.hp1
HG01981.hp1
HG02040.hp1
HG02056.hp1
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02109.hp1
HG02129.hp1
HG02132.hp1
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02280.hp1
HG02293.hp1
HG02300.hp1
HG02572.hp1
HG02602.hp1
HG02723.hp1
HG02738.hp1
HG02738.hp2
HG02886.hp1
HG03491.hp2
HG03516.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04199.hp1
HG04204.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18946.hp1
NA18946.hp2
NA18948.hp2
NA18950.hp2
NA18955.hp1
NA18955.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18967.hp1
NA18973.hp1
NA18973.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18990.hp1
NA18990.hp2
NA18994.hp1
NA18994.hp2
NA19000.hp1
NA19000.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19060.hp1
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19070.hp1
NA19074.hp1
NA19079.hp1
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19087.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1219-5024G>A
c.1219-5024G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 591388
chr17:591532 C
C
 G
G
 1 a0001c0002t0055g0084
a0001c0002t0055g0084
 1 NA18906.hp2
NA18906.hp2
 intron_variant MODIFIER c.1219-5168G>C
c.1219-5168G>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 591532
chr17:591577 C
C
 T
T
 3 a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0125g0116
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0125g0116
 3 NA18973.hp1
NA19007.hp2
NA19070.hp1
NA18973.hp1
NA19007.hp2
NA19070.hp1
 intron_variant MODIFIER c.1219-5213G>A
c.1219-5213G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 591577
chr17:591578 G
G
 A
A
 9 a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
others(6): Show 
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
 9 HG02135.hp2
HG02602.hp1
NA18747.hp1
others(6): Show 
HG02135.hp2
HG02602.hp1
NA18747.hp1
NA18955.hp2
NA18960.hp2
NA18994.hp2
NA19010.hp2
NA19087.hp1
NA19091.hp1
 intron_variant MODIFIER c.1219-5214C>T
c.1219-5214C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 591578
chr17:591640 A
A
 G
G
 41 a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
others(38): Show 
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0058g0052
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0002c0003t0073g0068
 41 HG00140.hp2
HG00280.hp1
HG00323.hp1
others(38): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp1
HG00621.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01106.hp1
HG01167.hp2
HG01168.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01361.hp1
HG01496.hp1
HG01978.hp1
HG02135.hp1
HG02738.hp1
HG02886.hp1
HG04204.hp2
NA18940.hp1
NA18944.hp1
NA18946.hp2
NA18948.hp2
NA18959.hp2
NA18960.hp1
NA18962.hp2
NA18967.hp1
NA18973.hp1
NA18977.hp2
NA18979.hp1
NA19007.hp1
NA19009.hp1
NA19065.hp1
NA19070.hp1
NA19079.hp1
NA19084.hp1
NA19090.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1219-5276T>C
c.1219-5276T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 591640
chr17:591720 T
T
 C
C
 1 a0001c0002t0055g0084
a0001c0002t0055g0084
 1 NA18906.hp2
NA18906.hp2
 intron_variant MODIFIER c.1219-5356A>G
c.1219-5356A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 591720
chr17:591840 T
T
 C
C
 38 a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
others(35): Show 
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0017g0179
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0018g0231
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0085g0184
a0002c0003t0089g0175
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0099g0192
a0002c0003t0104g0208
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0145g0187
a0002c0003t0146g0170
a0002c0003t0148g0174
a0002c0003t0150g0191
a0004c0008t0036g0207
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
 38 HG00323.hp2
HG00423.hp1
HG00438.hp2
others(35): Show 
HG00323.hp2
HG00423.hp1
HG00438.hp2
HG00621.hp1
HG01070.hp2
HG01071.hp1
HG01099.hp1
HG01167.hp1
HG01928.hp1
HG01981.hp1
HG02040.hp1
HG02056.hp1
HG02074.hp2
HG02083.hp1
HG02129.hp1
HG02132.hp1
HG02293.hp1
HG02300.hp1
HG02738.hp2
HG03491.hp2
HG03831.hp1
HG03942.hp1
HG04199.hp1
NA18612.hp1
NA18946.hp1
NA18955.hp1
NA18957.hp2
NA18979.hp2
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA19000.hp1
NA19010.hp1
NA19066.hp2
NA19074.hp1
NA19080.hp2
NA19084.hp2
NA19090.hp2
 intron_variant MODIFIER c.1219-5476A>G
c.1219-5476A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 591840
chr17:591849 TGTTGATT
others(11): Show 
TGTTGATTTGGGGTGGAGA
 T
T
 1 a0002c0003t0008g0180
a0002c0003t0008g0180
 1 HG02293.hp1
HG02293.hp1
 intron_variant MODIFIER c.1219-5503_1219-548
others(22): Show 
c.1219-5503_1219-5486delTCTCCACCCCAAATCAAC
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 591849
chr17:592087 G
G
 A
A
 11 a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
others(8): Show 
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0016t0052g0099
 11 HG00099.hp2
HG00280.hp2
HG01099.hp2
others(8): Show 
HG00099.hp2
HG00280.hp2
HG01099.hp2
HG01168.hp2
HG01175.hp1
HG01515.hp2
HG01981.hp2
HG03491.hp1
HG03492.hp1
HG03688.hp1
NA18948.hp1
 intron_variant MODIFIER c.1219-5723C>T
c.1219-5723C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 592087
chr17:592115 G
G
 A
A
 1 a0001c0001t0002g0137
a0001c0001t0002g0137
 1 NA19009.hp2
NA19009.hp2
 intron_variant MODIFIER c.1219-5751C>T
c.1219-5751C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 592115
chr17:592248 C
C
 A
A
 1 a0002c0003t0009g0185
a0002c0003t0009g0185
 1 HG01928.hp1
HG01928.hp1
 intron_variant MODIFIER c.1219-5884G>T
c.1219-5884G>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 592248
chr17:592282 G
G
 A
A
 142 a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
others(139): Show 
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0001g0094
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0017g0225
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0035g0219
a0001c0002t0038g0224
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0050g0049
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0065g0093
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0077g0095
a0001c0002t0078g0041
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0002t0086g0221
a0001c0002t0100g0223
a0001c0002t0109g0222
a0001c0002t0125g0116
a0001c0002t0143g0226
a0001c0002t0149g0202
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0011t0051g0091
a0001c0014t0135g0166
a0001c0015t0126g0149
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0017g0179
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0018g0231
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0073g0068
a0002c0003t0085g0184
a0002c0003t0089g0175
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0099g0192
a0002c0003t0104g0208
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0145g0187
a0002c0003t0146g0170
a0002c0003t0148g0174
a0002c0003t0150g0191
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
a0004c0008t0035g0203
a0004c0008t0036g0207
a0004c0008t0103g0227
a0004c0008t0124g0229
a0004c0008t0133g0232
a0004c0008t0142g0228
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
 142 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(139): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00621.hp1
HG00621.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01099.hp1
HG01106.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01255.hp1
HG01256.hp1
HG01257.hp2
HG01258.hp1
HG01346.hp1
HG01361.hp1
HG01496.hp1
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01928.hp1
HG01978.hp1
HG01981.hp1
HG02040.hp1
HG02056.hp1
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02109.hp1
HG02129.hp1
HG02132.hp1
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02280.hp1
HG02293.hp1
HG02300.hp1
HG02572.hp1
HG02602.hp1
HG02723.hp1
HG02738.hp1
HG02738.hp2
HG02886.hp1
HG03491.hp2
HG03516.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04199.hp1
HG04204.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18946.hp1
NA18946.hp2
NA18948.hp2
NA18950.hp2
NA18955.hp1
NA18955.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18967.hp1
NA18973.hp1
NA18973.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18990.hp1
NA18990.hp2
NA18994.hp1
NA18994.hp2
NA19000.hp1
NA19000.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19060.hp1
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19070.hp1
NA19074.hp1
NA19079.hp1
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19087.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1219-5918C>T
c.1219-5918C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 592282
chr17:592292 G
G
 C
C
 1 a0001c0001t0002g0121
a0001c0001t0002g0121
 1 NA18983.hp2
NA18983.hp2
 intron_variant MODIFIER c.1219-5928C>G
c.1219-5928C>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 592292
chr17:592530 G
G
 A
A
 4 a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
others(1): Show 
a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0011t0051g0091
 4 HG01074.hp2
NA18747.hp2
NA18984.hp2
others(1): Show 
HG01074.hp2
NA18747.hp2
NA18984.hp2
NA19064.hp2
 intron_variant MODIFIER c.1219-6166C>T
c.1219-6166C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 592530
chr17:592690 C
C
 A
A
 12 a0001c0001t0017g0158
a0001c0001t0032g0204
a0001c0001t0033g0205
others(9): Show 
a0001c0001t0017g0158
a0001c0001t0032g0204
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0034g0162
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0122g0160
a0001c0001t0127g0159
a0001c0001t0138g0161
a0001c0001t0141g0165
a0007c0013t0132g0163
 12 HG00741.hp1
HG01106.hp2
HG01109.hp1
others(9): Show 
HG00741.hp1
HG01106.hp2
HG01109.hp1
HG01257.hp1
HG01258.hp2
HG01891.hp1
HG02886.hp2
HG02895.hp2
HG02922.hp1
HG03225.hp1
HG04204.hp1
NA20129.hp1
 intron_variant MODIFIER c.1219-6326G>T
c.1219-6326G>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 592690
chr17:592716 C
C
 A
A
 2 a0001c0001t0113g0122
a0001c0001t0120g0211
a0001c0001t0113g0122
a0001c0001t0120g0211
 2 HG00741.hp2
HG04184.hp2
HG00741.hp2
HG04184.hp2
 intron_variant MODIFIER c.1219-6352G>T
c.1219-6352G>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 592716
chr17:592881 C
C
 T
T
 2 a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0101g0200
a0001c0001t0102g0220
 2 HG02572.hp2
HG03139.hp1
HG02572.hp2
HG03139.hp1
 intron_variant MODIFIER c.1219-6517G>A
c.1219-6517G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 592881
chr17:592898 G
G
 A
A
 44 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(41): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0034g0126
a0001c0001t0069g0012
a0001c0001t0094g0129
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0110g0127
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0123g0123
a0001c0001t0128g0132
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0006c0012t0129g0140
 44 HG00423.hp2
HG00741.hp2
HG01081.hp2
others(41): Show 
HG00423.hp2
HG00741.hp2
HG01081.hp2
HG01175.hp2
HG01192.hp2
HG01255.hp2
HG01256.hp2
HG01361.hp2
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp2
HG01928.hp2
HG01978.hp2
HG02040.hp2
HG02056.hp2
HG02083.hp2
HG02109.hp2
HG02129.hp2
HG02132.hp2
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02602.hp2
HG03492.hp2
HG03688.hp2
HG04184.hp2
HG04199.hp2
NA18940.hp2
NA18945.hp2
NA18950.hp1
NA18961.hp1
NA18967.hp2
NA18978.hp2
NA18983.hp2
NA18987.hp2
NA19009.hp2
NA19060.hp2
NA19065.hp2
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19079.hp2
NA19081.hp2
 intron_variant MODIFIER c.1219-6534C>T
c.1219-6534C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 592898
chr17:592962 G
G
 C
C
 4 a0001c0001t0032g0114
a0001c0001t0095g0145
a0001c0001t0096g0146
others(1): Show 
a0001c0001t0032g0114
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0098g0147
 4 HG02818.hp2
HG02895.hp1
HG03225.hp2
others(1): Show 
HG02818.hp2
HG02895.hp1
HG03225.hp2
NA20300.hp2
 intron_variant MODIFIER c.1219-6598C>G
c.1219-6598C>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 592962
chr17:593141 T
T
 C
C
 1 a0001c0002t0007g0058
a0001c0002t0007g0058
 1 NA19007.hp1
NA19007.hp1
 intron_variant MODIFIER c.1219-6777A>G
c.1219-6777A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 593141
chr17:593161 A
A
 C
C
 10 a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
others(7): Show 
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
 10 HG02135.hp2
HG02602.hp1
NA18747.hp1
others(7): Show 
HG02135.hp2
HG02602.hp1
NA18747.hp1
NA18955.hp2
NA18960.hp2
NA18994.hp2
NA19000.hp2
NA19010.hp2
NA19087.hp1
NA19091.hp1
 intron_variant MODIFIER c.1219-6797T>G
c.1219-6797T>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 593161
chr17:593549 C
C
 A
A
 1 a0001c0005t0042g0044
a0001c0005t0042g0044
 1 NA19000.hp2
NA19000.hp2
 intron_variant MODIFIER c.1219-7185G>T
c.1219-7185G>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 593549
chr17:593649 T
T
 A
A
 98 a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
others(95): Show 
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0017g0225
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0035g0219
a0001c0002t0038g0224
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0050g0049
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0078g0041
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0002t0086g0221
a0001c0002t0100g0223
a0001c0002t0109g0222
a0001c0002t0125g0116
a0001c0002t0143g0226
a0001c0002t0149g0202
a0001c0014t0135g0166
a0001c0015t0126g0149
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0017g0179
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0018g0231
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0073g0068
a0002c0003t0085g0184
a0002c0003t0089g0175
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0099g0192
a0002c0003t0104g0208
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0145g0187
a0002c0003t0146g0170
a0002c0003t0148g0174
a0002c0003t0150g0191
a0004c0008t0035g0203
a0004c0008t0036g0207
a0004c0008t0103g0227
a0004c0008t0124g0229
a0004c0008t0133g0232
a0004c0008t0142g0228
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
 98 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(95): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00621.hp1
HG00621.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01099.hp1
HG01106.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01346.hp1
HG01361.hp1
HG01496.hp1
HG01516.hp1
HG01928.hp1
HG01978.hp1
HG01981.hp1
HG02040.hp1
HG02056.hp1
HG02074.hp2
HG02083.hp1
HG02129.hp1
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02280.hp1
HG02293.hp1
HG02300.hp1
HG02572.hp1
HG02723.hp1
HG02738.hp1
HG02738.hp2
HG02886.hp1
HG03491.hp2
HG03516.hp2
HG03831.hp1
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04199.hp1
HG04204.hp2
NA18612.hp1
NA18906.hp2
NA18940.hp1
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp2
NA18955.hp1
NA18957.hp2
NA18959.hp2
NA18960.hp1
NA18962.hp2
NA18967.hp1
NA18973.hp1
NA18973.hp2
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA18990.hp2
NA19000.hp1
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19010.hp1
NA19011.hp1
NA19065.hp1
NA19066.hp1
NA19066.hp2
NA19070.hp1
NA19074.hp1
NA19079.hp1
NA19080.hp2
NA19084.hp1
NA19084.hp2
NA19090.hp1
NA19090.hp2
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1219-7285A>T
c.1219-7285A>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 593649
chr17:593733 T
T
 C
C
 1 a0002c0003t0150g0191
a0002c0003t0150g0191
 1 HG01981.hp1
HG01981.hp1
 intron_variant MODIFIER c.1219-7369A>G
c.1219-7369A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 593733
chr17:593795 A
A
 T
T
 3 a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0134g0154
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0134g0154
 3 HG01891.hp2
NA20129.hp2
NA20300.hp1
HG01891.hp2
NA20129.hp2
NA20300.hp1
 intron_variant MODIFIER c.1219-7431T>A
c.1219-7431T>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 593795
chr17:593972 C
C
 T
T
 98 a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
others(95): Show 
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0017g0225
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0035g0219
a0001c0002t0038g0224
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0050g0049
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0078g0041
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0002t0086g0221
a0001c0002t0100g0223
a0001c0002t0109g0222
a0001c0002t0125g0116
a0001c0002t0143g0226
a0001c0002t0149g0202
a0001c0014t0135g0166
a0001c0015t0126g0149
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0017g0179
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0018g0231
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0073g0068
a0002c0003t0085g0184
a0002c0003t0089g0175
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0099g0192
a0002c0003t0104g0208
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0145g0187
a0002c0003t0146g0170
a0002c0003t0148g0174
a0002c0003t0150g0191
a0004c0008t0035g0203
a0004c0008t0036g0207
a0004c0008t0103g0227
a0004c0008t0124g0229
a0004c0008t0133g0232
a0004c0008t0142g0228
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
 98 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(95): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00621.hp1
HG00621.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01099.hp1
HG01106.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01346.hp1
HG01361.hp1
HG01496.hp1
HG01516.hp1
HG01928.hp1
HG01978.hp1
HG01981.hp1
HG02040.hp1
HG02056.hp1
HG02074.hp2
HG02083.hp1
HG02129.hp1
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02280.hp1
HG02293.hp1
HG02300.hp1
HG02572.hp1
HG02723.hp1
HG02738.hp1
HG02738.hp2
HG02886.hp1
HG03491.hp2
HG03516.hp2
HG03831.hp1
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04199.hp1
HG04204.hp2
NA18612.hp1
NA18906.hp2
NA18940.hp1
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp2
NA18955.hp1
NA18957.hp2
NA18959.hp2
NA18960.hp1
NA18962.hp2
NA18967.hp1
NA18973.hp1
NA18973.hp2
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA18990.hp2
NA19000.hp1
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19010.hp1
NA19011.hp1
NA19065.hp1
NA19066.hp1
NA19066.hp2
NA19070.hp1
NA19074.hp1
NA19079.hp1
NA19080.hp2
NA19084.hp1
NA19084.hp2
NA19090.hp1
NA19090.hp2
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1219-7608G>A
c.1219-7608G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 593972
chr17:593990 T
T
 C
C
 11 a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
others(8): Show 
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0016t0052g0099
 11 HG00099.hp2
HG00280.hp2
HG01099.hp2
others(8): Show 
HG00099.hp2
HG00280.hp2
HG01099.hp2
HG01168.hp2
HG01175.hp1
HG01515.hp2
HG01981.hp2
HG03491.hp1
HG03492.hp1
HG03688.hp1
NA18948.hp1
 intron_variant MODIFIER c.1219-7626A>G
c.1219-7626A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 593990
chr17:594024 T
T
 C
C
 1 a0001c0005t0042g0044
a0001c0005t0042g0044
 1 NA19000.hp2
NA19000.hp2
 intron_variant MODIFIER c.1219-7660A>G
c.1219-7660A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 594024
chr17:594219 C
C
 A
A
 230 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(227): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0017g0158
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0032g0114
a0001c0001t0032g0204
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0034g0126
a0001c0001t0034g0162
a0001c0001t0069g0012
a0001c0001t0084g0046
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0097g0199
a0001c0001t0098g0147
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0105g0201
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0108g0148
a0001c0001t0110g0127
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0118g0195
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0122g0160
a0001c0001t0123g0123
a0001c0001t0127g0159
a0001c0001t0128g0132
a0001c0001t0134g0154
a0001c0001t0138g0161
a0001c0001t0141g0165
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0001g0094
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0017g0225
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0035g0219
a0001c0002t0038g0224
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0050g0049
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0065g0093
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0077g0095
a0001c0002t0078g0041
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0002t0086g0221
a0001c0002t0100g0223
a0001c0002t0109g0222
a0001c0002t0125g0116
a0001c0002t0143g0226
a0001c0002t0149g0202
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0001c0011t0051g0091
a0001c0014t0135g0166
a0001c0015t0126g0149
a0001c0016t0052g0099
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0017g0179
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0018g0231
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0073g0068
a0002c0003t0085g0184
a0002c0003t0089g0175
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0099g0192
a0002c0003t0104g0208
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0145g0187
a0002c0003t0146g0170
a0002c0003t0148g0174
a0002c0003t0150g0191
a0002c0010t0038g0156
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
a0004c0008t0035g0203
a0004c0008t0036g0207
a0004c0008t0103g0227
a0004c0008t0124g0229
a0004c0008t0133g0232
a0004c0008t0142g0228
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
a0006c0012t0129g0140
a0007c0013t0132g0163
 230 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(227): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00621.hp1
HG00621.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02056.hp1
HG02056.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18955.hp1
NA18955.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18967.hp1
NA18967.hp2
NA18973.hp1
NA18973.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18990.hp1
NA18990.hp2
NA18994.hp1
NA18994.hp2
NA19000.hp1
NA19000.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19087.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1218+7576G>T
c.1218+7576G>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 594219
chr17:594229 T
T
 A
A
 230 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(227): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0017g0158
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0032g0114
a0001c0001t0032g0204
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0034g0126
a0001c0001t0034g0162
a0001c0001t0069g0012
a0001c0001t0084g0046
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0097g0199
a0001c0001t0098g0147
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0105g0201
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0108g0148
a0001c0001t0110g0127
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0118g0195
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0122g0160
a0001c0001t0123g0123
a0001c0001t0127g0159
a0001c0001t0128g0132
a0001c0001t0134g0154
a0001c0001t0138g0161
a0001c0001t0141g0165
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0001g0094
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0017g0225
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0035g0219
a0001c0002t0038g0224
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0050g0049
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0065g0093
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0077g0095
a0001c0002t0078g0041
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0002t0086g0221
a0001c0002t0100g0223
a0001c0002t0109g0222
a0001c0002t0125g0116
a0001c0002t0143g0226
a0001c0002t0149g0202
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0001c0011t0051g0091
a0001c0014t0135g0166
a0001c0015t0126g0149
a0001c0016t0052g0099
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0017g0179
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0018g0231
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0073g0068
a0002c0003t0085g0184
a0002c0003t0089g0175
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0099g0192
a0002c0003t0104g0208
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0145g0187
a0002c0003t0146g0170
a0002c0003t0148g0174
a0002c0003t0150g0191
a0002c0010t0038g0156
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
a0004c0008t0035g0203
a0004c0008t0036g0207
a0004c0008t0103g0227
a0004c0008t0124g0229
a0004c0008t0133g0232
a0004c0008t0142g0228
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
a0006c0012t0129g0140
a0007c0013t0132g0163
 230 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(227): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00621.hp1
HG00621.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02056.hp1
HG02056.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18955.hp1
NA18955.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18967.hp1
NA18967.hp2
NA18973.hp1
NA18973.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18990.hp1
NA18990.hp2
NA18994.hp1
NA18994.hp2
NA19000.hp1
NA19000.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19087.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1218+7566A>T
c.1218+7566A>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 594229
chr17:594421 G
G
 T
T
 14 a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
others(11): Show 
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0097g0199
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0105g0201
a0001c0001t0118g0195
a0001c0001t0134g0154
 14 HG01109.hp2
HG01346.hp2
HG01884.hp1
others(11): Show 
HG01109.hp2
HG01346.hp2
HG01884.hp1
HG01891.hp2
HG02572.hp2
HG02622.hp1
HG02622.hp2
HG02723.hp2
HG02818.hp1
HG02922.hp2
HG03139.hp1
HG03139.hp2
NA20129.hp2
NA20300.hp1
 intron_variant MODIFIER c.1218+7374C>A
c.1218+7374C>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 594421
chr17:594424 G
G
 A
A
 14 a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
others(11): Show 
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0097g0199
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0105g0201
a0001c0001t0118g0195
a0001c0001t0134g0154
 14 HG01109.hp2
HG01346.hp2
HG01884.hp1
others(11): Show 
HG01109.hp2
HG01346.hp2
HG01884.hp1
HG01891.hp2
HG02572.hp2
HG02622.hp1
HG02622.hp2
HG02723.hp2
HG02818.hp1
HG02922.hp2
HG03139.hp1
HG03139.hp2
NA20129.hp2
NA20300.hp1
 intron_variant MODIFIER c.1218+7371C>T
c.1218+7371C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 594424
chr17:594458 C
C
 T
T
 63 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(60): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0017g0158
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0032g0114
a0001c0001t0032g0204
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0034g0126
a0001c0001t0034g0162
a0001c0001t0069g0012
a0001c0001t0084g0046
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0098g0147
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0108g0148
a0001c0001t0110g0127
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0122g0160
a0001c0001t0123g0123
a0001c0001t0127g0159
a0001c0001t0128g0132
a0001c0001t0138g0161
a0001c0001t0141g0165
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0002c0010t0038g0156
a0006c0012t0129g0140
a0007c0013t0132g0163
 63 HG00423.hp2
HG00741.hp1
HG00741.hp2
others(60): Show 
HG00423.hp2
HG00741.hp1
HG00741.hp2
HG01081.hp2
HG01106.hp2
HG01109.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01361.hp2
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp2
HG01891.hp1
HG01928.hp2
HG01978.hp2
HG02040.hp2
HG02056.hp2
HG02083.hp2
HG02109.hp2
HG02129.hp2
HG02132.hp2
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02602.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG03225.hp1
HG03225.hp2
HG03492.hp2
HG03516.hp1
HG03688.hp2
HG04184.hp2
HG04199.hp2
HG04204.hp1
NA18940.hp2
NA18945.hp2
NA18950.hp1
NA18961.hp1
NA18967.hp2
NA18978.hp2
NA18983.hp2
NA18987.hp2
NA19009.hp2
NA19060.hp2
NA19065.hp2
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19079.hp2
NA19081.hp2
NA20129.hp1
NA20300.hp2
NA21309.hp1
 intron_variant MODIFIER c.1218+7337G>A
c.1218+7337G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 594458
chr17:594513 A
A
 G
G
 1 a0004c0008t0035g0203
a0004c0008t0035g0203
 1 HG04184.hp1
HG04184.hp1
 intron_variant MODIFIER c.1218+7282T>C
c.1218+7282T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 594513
chr17:594530 T
T
 C
C
 1 a0004c0008t0035g0203
a0004c0008t0035g0203
 1 HG04184.hp1
HG04184.hp1
 intron_variant MODIFIER c.1218+7265A>G
c.1218+7265A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 594530
chr17:594533 C
C
 G
G
 1 a0004c0008t0035g0203
a0004c0008t0035g0203
 1 HG04184.hp1
HG04184.hp1
 intron_variant MODIFIER c.1218+7262G>C
c.1218+7262G>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 594533
chr17:594538 G
G
 C
C
 1 a0004c0008t0035g0203
a0004c0008t0035g0203
 1 HG04184.hp1
HG04184.hp1
 intron_variant MODIFIER c.1218+7257C>G
c.1218+7257C>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 594538
chr17:594570 T
T
 C
C
 142 a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
others(139): Show 
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0001g0094
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0017g0225
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0035g0219
a0001c0002t0038g0224
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0050g0049
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0065g0093
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0077g0095
a0001c0002t0078g0041
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0002t0086g0221
a0001c0002t0100g0223
a0001c0002t0109g0222
a0001c0002t0125g0116
a0001c0002t0143g0226
a0001c0002t0149g0202
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0011t0051g0091
a0001c0014t0135g0166
a0001c0015t0126g0149
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0017g0179
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0018g0231
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0073g0068
a0002c0003t0085g0184
a0002c0003t0089g0175
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0099g0192
a0002c0003t0104g0208
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0145g0187
a0002c0003t0146g0170
a0002c0003t0148g0174
a0002c0003t0150g0191
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
a0004c0008t0035g0203
a0004c0008t0036g0207
a0004c0008t0103g0227
a0004c0008t0124g0229
a0004c0008t0133g0232
a0004c0008t0142g0228
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
 142 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(139): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00621.hp1
HG00621.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01099.hp1
HG01106.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01255.hp1
HG01256.hp1
HG01257.hp2
HG01258.hp1
HG01346.hp1
HG01361.hp1
HG01496.hp1
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01928.hp1
HG01978.hp1
HG01981.hp1
HG02040.hp1
HG02056.hp1
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02109.hp1
HG02129.hp1
HG02132.hp1
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02280.hp1
HG02293.hp1
HG02300.hp1
HG02572.hp1
HG02602.hp1
HG02723.hp1
HG02738.hp1
HG02738.hp2
HG02886.hp1
HG03491.hp2
HG03516.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04199.hp1
HG04204.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18946.hp1
NA18946.hp2
NA18948.hp2
NA18950.hp2
NA18955.hp1
NA18955.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18967.hp1
NA18973.hp1
NA18973.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18990.hp1
NA18990.hp2
NA18994.hp1
NA18994.hp2
NA19000.hp1
NA19000.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19060.hp1
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19070.hp1
NA19074.hp1
NA19079.hp1
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19087.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1218+7225A>G
c.1218+7225A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 594570
chr17:594580 C
C
 G
G
 1 a0001c0001t0106g0117
a0001c0001t0106g0117
 1 HG02109.hp2
HG02109.hp2
 intron_variant MODIFIER c.1218+7215G>C
c.1218+7215G>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 594580
chr17:594611 G
G
 GGAGGAAG
others(855): Show 
GGAGGAAGCTGGGAGATGGGAAGGGGTCTGGATCAATTTCCTGATTTGAT
GATGCACTCTAGTGTCCCCCTGGAGGAAGCTGGGAGATGGGAAGGGGTCT
GGATCAATTTCCTGGTGTGATGATGCACTCTAGTGTCCCCCCTGGAGGAA
GCTGGGAGATGGGAAGGGGTCTGGATCAATTTCCTGGTTTGATGATGCAC
TCTAGTGCCCTGCCCTCGAGGAAGCTGGGAGATGGGAAGGGGTCTGGATC
AATTTCCTGATTTGATGATGCACTCTAGTGTCCCCCTGGAGGAAGCTGGG
AGATGGGAAGGGGTCTGGATCAATTTCCTGGTTTGATGATGCACTCTAGT
GCCCCGCCCTGGAGGAAGCTGGGAGATGGGAAGGGGTCTGGATCAATTTC
CTCGTTTGATGATGCACTCTAGTGTCCCCCTGGAGGAAGCTGGGAGATGG
GAAGGGGTCTGGACCAATTTCCTCGTTTGATGATGCACTCTAGTGTCCCC
CTGGAGGAAGCTGGGAGATGGGAAGGGGTCTGGACCAATTTCCTCGTTTG
ATGATGCACTCTAGTGTCCCCCTGGAGGAAGCTGGGAGATGGGAAGGGGT
CTGGATCAATTTCCTCGTTTGATGATGCACTCTAGTGCCCTGCCCTGGAG
GAAGCTGGGAGATGGGAAGGGGTCTGGATCAATTTCCTGATTTGATGATG
CACTCTAGTGTCCCCCTGGAGGAAGCTGGGAGATGGGAAGGGGTCTGGAT
CAATTTCCTGGTTTGATGATGCACTCTAGTGTCCCCCCTGGAGGAAGCTG
GGAGATGGGAAGGGGTCTGGATCAATTTCCTGGTTTGATGATGCACTCTA
GTGCCCTGCCCTC
 1 a0001c0001t0127g0159
a0001c0001t0127g0159
 1 HG01891.hp1
HG01891.hp1
 intron_variant MODIFIER c.1218+7183_1218+718
others(866): Show 
c.1218+7183_1218+7184insGAGGGCAGGGCACTAGAGTGCATCAT
CAAACCAGGAAATTGATCCAGACCCCTTCCCATCTCCCAGCTTCCTCCAG
GGGGGACACTAGAGTGCATCATCAAACCAGGAAATTGATCCAGACCCCTT
CCCATCTCCCAGCTTCCTCCAGGGGGACACTAGAGTGCATCATCAAATCA
GGAAATTGATCCAGACCCCTTCCCATCTCCCAGCTTCCTCCAGGGCAGGG
CACTAGAGTGCATCATCAAACGAGGAAATTGATCCAGACCCCTTCCCATC
TCCCAGCTTCCTCCAGGGGGACACTAGAGTGCATCATCAAACGAGGAAAT
TGGTCCAGACCCCTTCCCATCTCCCAGCTTCCTCCAGGGGGACACTAGAG
TGCATCATCAAACGAGGAAATTGGTCCAGACCCCTTCCCATCTCCCAGCT
TCCTCCAGGGGGACACTAGAGTGCATCATCAAACGAGGAAATTGATCCAG
ACCCCTTCCCATCTCCCAGCTTCCTCCAGGGCGGGGCACTAGAGTGCATC
ATCAAACCAGGAAATTGATCCAGACCCCTTCCCATCTCCCAGCTTCCTCC
AGGGGGACACTAGAGTGCATCATCAAATCAGGAAATTGATCCAGACCCCT
TCCCATCTCCCAGCTTCCTCGAGGGCAGGGCACTAGAGTGCATCATCAAA
CCAGGAAATTGATCCAGACCCCTTCCCATCTCCCAGCTTCCTCCAGGGGG
GACACTAGAGTGCATCATCACACCAGGAAATTGATCCAGACCCCTTCCCA
TCTCCCAGCTTCCTCCAGGGGGACACTAGAGTGCATCATCAAATCAGGAA
ATTGATCCAGACCCCTTCCCATCTCCCAGCTTCCTC
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 594611
chr17:594611 G
G
 GGAGGAAG
others(784): Show 
GGAGGAAGCTGGGAGATGGGAAGGGGTCTGGATCAATTTCCTGATTTGAT
GATGCACTCTAGTGTCCCCCTGGAGGAAGCTGGGAGATGGGAAGGGGTCT
GGATCAATTTCCTGGTGTGATGATGCACTCTAGTGTCCCCCCTGGAGGAA
GCTGGGAGATGGGAAGGGGTCTGGATCAATTTCCTGGTTTGATGATGCAC
TCTAGTGCCCTGCCCTCGAGGAAGCTGGGAGATGGGAAGGGGTCTGGATC
AATTTCCTGATTTGATGATGCACTCTAGTGTCCCCCTGGAGGAAGCTGGG
AGATGGGAAGGGGTCTGGATCAATTTCCTGGTTTGATGATGCACTCTAGT
GCCCCGCCCTGGAGGAAGCTGGGAGATGGGAAGGGGTCTGGATCAATTTC
CTCGTTTGATGATGCACTCTAGTGTCCCCCTGGAGGAAGCTGGGAGATGG
GAAGGGGTCTGGACCAATTTCCTCGTTTGATGATGCACTCTAGTGTCCCC
CTGGAGGAAGCTGGGAGATGGGAAGGGGTCTGGATCAATTTCCTCGTTTG
ATGATGCACTCTAGTGCCCTGCCCTGGAGGAAGCTGGGAGATGGGAAGGG
GTCTGGATCAATTTCCTGATTTGATGATGCACTCTAGTGTCCCCCTGGAG
GAAGCTGGGAGATGGGAAGGGGTCTGGATCAATTTCCTGGTTTGATGATG
CACTCTAGTGTCCCCCCTGGAGGAAGCTGGGAGATGGGAAGGGGTCTGGA
TCAATTTCCTGGTTTGATGATGCACTCTAGTGCCCTGCCCTC
 8 a0001c0001t0017g0158
a0001c0001t0033g0205
a0001c0001t0033g0206
others(5): Show 
a0001c0001t0017g0158
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0034g0162
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0141g0165
a0007c0013t0132g0163
 8 HG00741.hp1
HG01106.hp2
HG01109.hp1
others(5): Show 
HG00741.hp1
HG01106.hp2
HG01109.hp1
HG02886.hp2
HG02895.hp2
HG03225.hp1
HG04204.hp1
NA20129.hp1
 intron_variant MODIFIER c.1218+7183_1218+718
others(795): Show 
c.1218+7183_1218+7184insGAGGGCAGGGCACTAGAGTGCATCAT
CAAACCAGGAAATTGATCCAGACCCCTTCCCATCTCCCAGCTTCCTCCAG
GGGGGACACTAGAGTGCATCATCAAACCAGGAAATTGATCCAGACCCCTT
CCCATCTCCCAGCTTCCTCCAGGGGGACACTAGAGTGCATCATCAAATCA
GGAAATTGATCCAGACCCCTTCCCATCTCCCAGCTTCCTCCAGGGCAGGG
CACTAGAGTGCATCATCAAACGAGGAAATTGATCCAGACCCCTTCCCATC
TCCCAGCTTCCTCCAGGGGGACACTAGAGTGCATCATCAAACGAGGAAAT
TGGTCCAGACCCCTTCCCATCTCCCAGCTTCCTCCAGGGGGACACTAGAG
TGCATCATCAAACGAGGAAATTGATCCAGACCCCTTCCCATCTCCCAGCT
TCCTCCAGGGCGGGGCACTAGAGTGCATCATCAAACCAGGAAATTGATCC
AGACCCCTTCCCATCTCCCAGCTTCCTCCAGGGGGACACTAGAGTGCATC
ATCAAATCAGGAAATTGATCCAGACCCCTTCCCATCTCCCAGCTTCCTCG
AGGGCAGGGCACTAGAGTGCATCATCAAACCAGGAAATTGATCCAGACCC
CTTCCCATCTCCCAGCTTCCTCCAGGGGGGACACTAGAGTGCATCATCAC
ACCAGGAAATTGATCCAGACCCCTTCCCATCTCCCAGCTTCCTCCAGGGG
GACACTAGAGTGCATCATCAAATCAGGAAATTGATCCAGACCCCTTCCCA
TCTCCCAGCTTCCTC
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 594611
chr17:594611 G
G
 GGAGGAAG
others(1646): Show 
GGAGGAAGCTGGGAGATGGGAAGGGGTCTGGATCAATTTCCTGATTTGAT
GATGCACTCTAGTGTCCCCCTGGAGGAAGCTGGGAGATGGGAAGGGGTCT
GGATCAATTTCCTGGTGTGATGATGCACTCTAGTGTCCCCCCTGGAGGAA
GCTGGGAGATGGGAAGGGGTCTGGATCAATTTCCTGGTTTGATGATGCAC
TCTAGTGCCCTGCCCTCGAGGAAGCTGGGAGATGGGAAGGGGTCTGGATC
AATTTCCTGATTTGATGATGCACTCTAGTGTCCCCCTGGAGGAAGCTGGG
AGATGGGAAGGGGTCTGGATCAATTTCCTGGTTTGATGATGCACTCTAGT
GCCCCGCCCTGGAGGAAGCTGGGAGATGGGAAGGGGTCTGGATCAATTTC
CTCGTTTGATGATGCACTCTAGTGTCCCCCTGGAGGAAGCTGGGAGATGG
GAAGGGGTCTGGACCAATTTCCTCGTTTGATGATGCACTCTAGTGTCCCC
CTGGAGGAAGCTGGGAGATGGGAAGGGGTCTGGATCAATTTCCTCGTTTG
ATGATGCACTCTAGTGCCCTGCCCTGGAGGAAGCTGGGAGATGGGAAGGG
GTCTGGATCAATTTCCTGATTTGATGATGCACTCTAGTGTCCCCCTGGAG
GAAGCTGGGAGATGGGAAGGGGTCTGGATCAATTTCCTGGTTTGATGATG
CACTCTAGTGTCCCCCCTGGAGGAAGCTGGGAGATGGGAAGGGGTCTGGA
TCAATTTCCTGGTTTGATGATGCACTCTAGTGCCCTGCCCTCGAGGAAGC
TGGGAGATGGGAAGGGGTCTGGATCAATTTCCTGATTTGATGATGCACTC
TAGTGTCCCCCTGGAGGAAGCTGGGAGATGGGAAGGGGTCTGGATCAATT
TCCTGGTGTGATGATGCACTCTAGTGTCCCCCCTGGAGGAAGCTGGGAGA
TGGGAAGGGGTCTGGATCAATTTCCTGGTTTGATGATGCACTCTAGTGCC
CTGCCCTCGAGGAAGCTGGGAGATGGGAAGGGGTCTGGATCAATTTCCTG
ATTTGATGATGCACTCTAGTGTCCCCCTGGAGGAAGCTGGGAGATGGGAA
GGGGTCTGGATCAATTTCCTGGTTTGATGATGCACTCTAGTGCCCCGCCC
TGGAGGAAGCTGGGAGATGGGAAGGGGTCTGGATCAATTTCCTGGTTTGA
TGATGCACTCTAGTGTCCCCCTGGAGGAAGCTGGGAGATGGGAAGGGGTC
TGGATCAATTTCCTCGTTTGATGATGCACTCTAGTGTCCCCCTGGAGGAA
GCTGGGAGATGGGAAGGGGTCTGGACCAATTTCCTCGTTTGATGATGCAC
TCTAGTGTCCCCCTGGAGGAAGCTGGGAGATGGGAAGGGGTCTGGATCAA
TTTCCTCGTTTGATGATGCACTCTAGTGCCCTGCCCTGGAGGAAGCTGGG
AGATGGGAAGGGGTCTGGATCAATTTCCTGATTTGATGATGCACTCTAGT
GTCCCCCTGGAGGAAGCTGGGAGATGGGAAGGGGTCTGGATCAATTTCCT
GGTTTGATGATGCACTCTAGTGTCCCCCCTGGAGGAAGCTGGGAGATGGG
AAGGGGTCTGGATCAATTTCCTGGTTTGATGATGCACTCTAGTGCCCTGC
CCTC
 1 a0002c0010t0038g0156
a0002c0010t0038g0156
 1 NA21309.hp1
NA21309.hp1
 intron_variant MODIFIER c.1218+7183_1218+718
others(1657): Show 
c.1218+7183_1218+7184insGAGGGCAGGGCACTAGAGTGCATCAT
CAAACCAGGAAATTGATCCAGACCCCTTCCCATCTCCCAGCTTCCTCCAG
GGGGGACACTAGAGTGCATCATCAAACCAGGAAATTGATCCAGACCCCTT
CCCATCTCCCAGCTTCCTCCAGGGGGACACTAGAGTGCATCATCAAATCA
GGAAATTGATCCAGACCCCTTCCCATCTCCCAGCTTCCTCCAGGGCAGGG
CACTAGAGTGCATCATCAAACGAGGAAATTGATCCAGACCCCTTCCCATC
TCCCAGCTTCCTCCAGGGGGACACTAGAGTGCATCATCAAACGAGGAAAT
TGGTCCAGACCCCTTCCCATCTCCCAGCTTCCTCCAGGGGGACACTAGAG
TGCATCATCAAACGAGGAAATTGATCCAGACCCCTTCCCATCTCCCAGCT
TCCTCCAGGGGGACACTAGAGTGCATCATCAAACCAGGAAATTGATCCAG
ACCCCTTCCCATCTCCCAGCTTCCTCCAGGGCGGGGCACTAGAGTGCATC
ATCAAACCAGGAAATTGATCCAGACCCCTTCCCATCTCCCAGCTTCCTCC
AGGGGGACACTAGAGTGCATCATCAAATCAGGAAATTGATCCAGACCCCT
TCCCATCTCCCAGCTTCCTCGAGGGCAGGGCACTAGAGTGCATCATCAAA
CCAGGAAATTGATCCAGACCCCTTCCCATCTCCCAGCTTCCTCCAGGGGG
GACACTAGAGTGCATCATCACACCAGGAAATTGATCCAGACCCCTTCCCA
TCTCCCAGCTTCCTCCAGGGGGACACTAGAGTGCATCATCAAATCAGGAA
ATTGATCCAGACCCCTTCCCATCTCCCAGCTTCCTCGAGGGCAGGGCACT
AGAGTGCATCATCAAACCAGGAAATTGATCCAGACCCCTTCCCATCTCCC
AGCTTCCTCCAGGGGGGACACTAGAGTGCATCATCAAACCAGGAAATTGA
TCCAGACCCCTTCCCATCTCCCAGCTTCCTCCAGGGGGACACTAGAGTGC
ATCATCAAATCAGGAAATTGATCCAGACCCCTTCCCATCTCCCAGCTTCC
TCCAGGGCAGGGCACTAGAGTGCATCATCAAACGAGGAAATTGATCCAGA
CCCCTTCCCATCTCCCAGCTTCCTCCAGGGGGACACTAGAGTGCATCATC
AAACGAGGAAATTGGTCCAGACCCCTTCCCATCTCCCAGCTTCCTCCAGG
GGGACACTAGAGTGCATCATCAAACGAGGAAATTGATCCAGACCCCTTCC
CATCTCCCAGCTTCCTCCAGGGCGGGGCACTAGAGTGCATCATCAAACCA
GGAAATTGATCCAGACCCCTTCCCATCTCCCAGCTTCCTCCAGGGGGACA
CTAGAGTGCATCATCAAATCAGGAAATTGATCCAGACCCCTTCCCATCTC
CCAGCTTCCTCGAGGGCAGGGCACTAGAGTGCATCATCAAACCAGGAAAT
TGATCCAGACCCCTTCCCATCTCCCAGCTTCCTCCAGGGGGGACACTAGA
GTGCATCATCACACCAGGAAATTGATCCAGACCCCTTCCCATCTCCCAGC
TTCCTCCAGGGGGACACTAGAGTGCATCATCAAATCAGGAAATTGATCCA
GACCCCTTCCCATCTCCCAGCTTCCTC
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 594611
chr17:594611 G
G
 GGAGGAAG
others(784): Show 
GGAGGAAGCTGGGAGATGGGAAGGGGTCTGGATCAATTTCCTGATTTGAT
GATGCACTCTAGTGTCCCCCTGGAGGAAGCTGGGAGATGGGAAGGGGTCT
GGATCAATTTCCTGGTGTGATGATGCACTCTAGTGTCCCCCCTGGAGGAA
GCTGGGAGATGGGAAGGGGTCTGGATCAATTTCCTGGTTTGATGATGCAC
TCTAGTGCCCTGCCCTCGAGGAAGCTGGGAGATGGGAAGGGGTCTGGATC
AATTTCCTGATTTGATGATGCACTCTAGTGTCCCCCTGGAGGAAGCTGGG
AGATGGGAAGGGGTCTGGATCAATTTCCTGGTTTGATGATGCACTCTAGT
GCCCCGCCCTGGAGGAAGCTGGGAGATGGGAAGGGGTCTGGATCAATTTC
CTCGTTTGATGATGCACTCTAGTGTCCCCCTGGAGGAAGCTGGGAGATGG
GAAGGGGTCTGGATCAATTTCCTCGTTTGATGATGCACTCTAGTGTCCCC
CTGGAGGAAGCTGGGAGATGGGAAGGGGTCTGGATCAATTTCCTCGTTTG
ATGATGCACTCTAGTGCCCTGCCCTGGAGGAAGCTGGGAGATGGGAAGGG
GTCTGGATCAATTTCCTGATTTGATGATGCACTCTAGTGTCCCCCTGGAG
GAAGCTGGGAGATGGGAAGGGGTCTGGATCAATTTCCTGGTTTGATGATG
CACTCTAGTGTCCCCCCTGGAGGAAGCTGGGAGATGGGAAGGGGTCTGGA
TCAATTTCCTGGTTTGATGATGCACTCTAGTGCCCTGCCCTC
 1 a0001c0001t0032g0204
a0001c0001t0032g0204
 1 HG02922.hp1
HG02922.hp1
 intron_variant MODIFIER c.1218+7183_1218+718
others(795): Show 
c.1218+7183_1218+7184insGAGGGCAGGGCACTAGAGTGCATCAT
CAAACCAGGAAATTGATCCAGACCCCTTCCCATCTCCCAGCTTCCTCCAG
GGGGGACACTAGAGTGCATCATCAAACCAGGAAATTGATCCAGACCCCTT
CCCATCTCCCAGCTTCCTCCAGGGGGACACTAGAGTGCATCATCAAATCA
GGAAATTGATCCAGACCCCTTCCCATCTCCCAGCTTCCTCCAGGGCAGGG
CACTAGAGTGCATCATCAAACGAGGAAATTGATCCAGACCCCTTCCCATC
TCCCAGCTTCCTCCAGGGGGACACTAGAGTGCATCATCAAACGAGGAAAT
TGATCCAGACCCCTTCCCATCTCCCAGCTTCCTCCAGGGGGACACTAGAG
TGCATCATCAAACGAGGAAATTGATCCAGACCCCTTCCCATCTCCCAGCT
TCCTCCAGGGCGGGGCACTAGAGTGCATCATCAAACCAGGAAATTGATCC
AGACCCCTTCCCATCTCCCAGCTTCCTCCAGGGGGACACTAGAGTGCATC
ATCAAATCAGGAAATTGATCCAGACCCCTTCCCATCTCCCAGCTTCCTCG
AGGGCAGGGCACTAGAGTGCATCATCAAACCAGGAAATTGATCCAGACCC
CTTCCCATCTCCCAGCTTCCTCCAGGGGGGACACTAGAGTGCATCATCAC
ACCAGGAAATTGATCCAGACCCCTTCCCATCTCCCAGCTTCCTCCAGGGG
GACACTAGAGTGCATCATCAAATCAGGAAATTGATCCAGACCCCTTCCCA
TCTCCCAGCTTCCTC
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 594611
chr17:594675 T
T
 TC
TC
 14 a0001c0002t0017g0225
a0001c0002t0035g0219
a0001c0002t0038g0224
others(11): Show 
a0001c0002t0017g0225
a0001c0002t0035g0219
a0001c0002t0038g0224
a0001c0002t0086g0221
a0001c0002t0100g0223
a0001c0002t0109g0222
a0001c0002t0125g0116
a0001c0002t0143g0226
a0001c0002t0149g0202
a0004c0008t0035g0203
a0004c0008t0103g0227
a0004c0008t0124g0229
a0004c0008t0133g0232
a0004c0008t0142g0228
 14 HG00099.hp1
HG00140.hp1
HG00438.hp1
others(11): Show 
HG00099.hp1
HG00140.hp1
HG00438.hp1
HG01346.hp1
HG01516.hp1
HG02145.hp1
HG03942.hp2
HG04184.hp1
NA18944.hp2
NA18973.hp2
NA18990.hp2
NA19007.hp2
NA19011.hp1
NA19066.hp1
 intron_variant MODIFIER c.1218+7119dupG
c.1218+7119dupG
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 594675
chr17:594675 TCCCCCTG
others(65): Show 
TCCCCCTGGAGGAAGCTGGGAGATGGGAAGGGGTCTGGATCAATTTCCTG
GTTTGATGATGCACTCTAGTGTC
 T
T
 1 a0001c0001t0084g0046
a0001c0001t0084g0046
 1 HG03516.hp1
HG03516.hp1
 intron_variant MODIFIER c.1218+7048_1218+711
others(76): Show 
c.1218+7048_1218+7119delGACACTAGAGTGCATCATCAAACCAG
GAAATTGATCCAGACCCCTTCCCATCTCCCAGCTTCCTCCAGGGGG
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 594675
chr17:594727 T
T
 G
G
 76 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(73): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0017g0158
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0032g0114
a0001c0001t0032g0204
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0034g0126
a0001c0001t0034g0162
a0001c0001t0069g0012
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0097g0199
a0001c0001t0098g0147
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0105g0201
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0108g0148
a0001c0001t0110g0127
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0118g0195
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0122g0160
a0001c0001t0123g0123
a0001c0001t0127g0159
a0001c0001t0128g0132
a0001c0001t0134g0154
a0001c0001t0138g0161
a0001c0001t0141g0165
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0002c0010t0038g0156
a0006c0012t0129g0140
a0007c0013t0132g0163
 76 HG00423.hp2
HG00741.hp1
HG00741.hp2
others(73): Show 
HG00423.hp2
HG00741.hp1
HG00741.hp2
HG01081.hp2
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01346.hp2
HG01361.hp2
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp2
HG01978.hp2
HG02040.hp2
HG02056.hp2
HG02083.hp2
HG02109.hp2
HG02129.hp2
HG02132.hp2
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02572.hp2
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02723.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03492.hp2
HG03688.hp2
HG04184.hp2
HG04199.hp2
HG04204.hp1
NA18940.hp2
NA18945.hp2
NA18950.hp1
NA18961.hp1
NA18967.hp2
NA18978.hp2
NA18983.hp2
NA18987.hp2
NA19009.hp2
NA19060.hp2
NA19065.hp2
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19079.hp2
NA19081.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA21309.hp1
 intron_variant MODIFIER c.1218+7068A>C
c.1218+7068A>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 594727
chr17:594746 T
T
 C
C
 1 a0004c0008t0035g0203
a0004c0008t0035g0203
 1 HG04184.hp1
HG04184.hp1
 intron_variant MODIFIER c.1218+7049A>G
c.1218+7049A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 594746
chr17:594770 T
T
 C
C
 1 a0002c0003t0037g0115
a0002c0003t0037g0115
 1 NA18986.hp1
NA18986.hp1
 intron_variant MODIFIER c.1218+7025A>G
c.1218+7025A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 594770
chr17:594796 G
G
 C
C
 142 a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
others(139): Show 
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0001g0094
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0017g0225
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0035g0219
a0001c0002t0038g0224
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0050g0049
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0065g0093
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0077g0095
a0001c0002t0078g0041
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0002t0086g0221
a0001c0002t0100g0223
a0001c0002t0109g0222
a0001c0002t0125g0116
a0001c0002t0143g0226
a0001c0002t0149g0202
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0011t0051g0091
a0001c0014t0135g0166
a0001c0015t0126g0149
a0001c0016t0052g0099
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0017g0179
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0018g0231
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0073g0068
a0002c0003t0085g0184
a0002c0003t0089g0175
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0099g0192
a0002c0003t0104g0208
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0145g0187
a0002c0003t0146g0170
a0002c0003t0148g0174
a0002c0003t0150g0191
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
a0004c0008t0036g0207
a0004c0008t0103g0227
a0004c0008t0124g0229
a0004c0008t0133g0232
a0004c0008t0142g0228
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
 142 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(139): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00621.hp1
HG00621.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01255.hp1
HG01256.hp1
HG01257.hp2
HG01258.hp1
HG01346.hp1
HG01361.hp1
HG01496.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01928.hp1
HG01978.hp1
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02056.hp1
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02109.hp1
HG02129.hp1
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02280.hp1
HG02293.hp1
HG02300.hp1
HG02572.hp1
HG02723.hp1
HG02738.hp1
HG02738.hp2
HG02886.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03516.hp2
HG03688.hp1
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG03942.hp2
HG04199.hp1
HG04204.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18946.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp2
NA18955.hp1
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18967.hp1
NA18973.hp1
NA18973.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18990.hp1
NA18990.hp2
NA18994.hp1
NA19000.hp1
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19010.hp1
NA19011.hp1
NA19011.hp2
NA19060.hp1
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19070.hp1
NA19074.hp1
NA19079.hp1
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19084.hp1
NA19084.hp2
NA19087.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1218+6999C>G
c.1218+6999C>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 594796
chr17:594827 CGAGGAAG
others(137): Show 
CGAGGAAGCTGGGAGATGGGAAGGGGTCTGGATCAATTTCCTGATTTGAT
GATGCACTCTAGTGTCCCCCTGGAGGAAGCTGGGAGATGGGAAGGGGTCT
GGATCAATTTCCTGGTTTGATGATGCACTCTAGTGCCCCACCCTG
 C
C
 1 a0002c0003t0089g0175
a0002c0003t0089g0175
 1 HG02074.hp2
HG02074.hp2
 intron_variant MODIFIER c.1218+6824_1218+696
others(4): Show 
c.1218+6824_1218+6967del
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 594827
chr17:594827 CGAGGAAG
others(925): Show 
CGAGGAAGCTGGGAGATGGGAAGGGGTCTGGATCAATTTCCTGATTTGAT
GATGCACTCTAGTGTCCCCCTGGAGGAAGCTGGGAGATGGGAAGGGGTCT
GGATCAATTTCCTGGTTTGATGATGCACTCTAGTGCCCCACCCTGGAGGA
AGCTGGGAGATGGGAAGGGGTCTGGATCAATTTCCTGGTTTGATGATGCA
CTCTAGTGTCCCCCTGGAGGAAGCTGGGAGATGGGAAGGGGTCTGGATCA
ATTTCCTCGTTTGATGATGCACTCTAGTGTCCCCCTGGAGGAAGCTGGGA
GATGGGAAGGGGTCTGGACCAATTTCCTCGTTTGATGATGCACTCTAGTG
TCCCCCTGGAGGAAGCTGGGAGATGGGAAGGGGTCTGGATCAATTTCCTC
GTTTGATGATGCACTCTAGTGCCCTGCCCTGGAGGAAGCTGGGAGATGGG
AAGGGGTCTGGATCAATTTCCTGATTTGATGATGCACTCTAGTGTCCCCC
TGGAGGAAGCTGGGAGATGGGAAGGGGTCTGGATCAATTTCCTGGTTTGA
TGATGCACTCTAGTGTCCCCCCTGGAGGAAGCTGGGAGATGGGAAGGGGT
CTGGATCAATTTCCTGGTTTGATGATGCACTCTAGTGCCCTGCCCTCGAG
GAAGCTGGGAGATGGGAAGGGGTCTGGATCAATTTCCTGATTTGATGATG
CACTCTAGTGCCCCCCCGGAGGAAGCTGGGAGATGGGAAGGGGTCTGGAT
CAATTTCCTGGTTTGATGATGCACTCTAGTGTCCCCCCTGGAGGAAGCTG
GGAGATGGGAAGGGGTCTGGATCAATTTCCTGGTTTGATGATGCACTCTA
GTGCCCCCCCTGGAGGAAGCTGGGAGATGGGAAGGGGTCTGGATCAATTT
CCTGGTTTGATGATGCACTCTAGTGTCCCCCTG
 C
C
 1 a0004c0008t0035g0203
a0004c0008t0035g0203
 1 HG04184.hp1
HG04184.hp1
 intron_variant MODIFIER c.1218+6036_1218+696
others(4): Show 
c.1218+6036_1218+6967del
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 594827
chr17:594890 GTCCCCCT
others(638): Show 
GTCCCCCTGGAGGAAGCTGGGAGATGGGAAGGGGTCTGGATCAATTTCCT
GGTTTGATGATGCACTCTAGTGCCCCACCCTGGAGGAAGCTGGGAGATGG
GAAGGGGTCTGGATCAATTTCCTGGTTTGATGATGCACTCTAGTGTCCCC
CTGGAGGAAGCTGGGAGATGGGAAGGGGTCTGGATCAATTTCCTCGTTTG
ATGATGCACTCTAGTGTCCCCCTGGAGGAAGCTGGGAGATGGGAAGGGGT
CTGGACCAATTTCCTCGTTTGATGATGCACTCTAGTGTCCCCCTGGAGGA
AGCTGGGAGATGGGAAGGGGTCTGGATCAATTTCCTCGTTTGATGATGCA
CTCTAGTGCCCTGCCCTGGAGGAAGCTGGGAGATGGGAAGGGGTCTGGAT
CAATTTCCTGATTTGATGATGCACTCTAGTGTCCCCCTGGAGGAAGCTGG
GAGATGGGAAGGGGTCTGGATCAATTTCCTGGTTTGATGATGCACTCTAG
TGTCCCCCCTGGAGGAAGCTGGGAGATGGGAAGGGGTCTGGATCAATTTC
CTGGTTTGATGATGCACTCTAGTGCCCTGCCCTCGAGGAAGCTGGGAGAT
GGGAAGGGGTCTGGATCAATTTCCTGATTTGATGATGCACTCTAGT
 G
G
 10 a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
others(7): Show 
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
 10 HG02135.hp2
HG02602.hp1
NA18747.hp1
others(7): Show 
HG02135.hp2
HG02602.hp1
NA18747.hp1
NA18955.hp2
NA18960.hp2
NA18994.hp2
NA19000.hp2
NA19010.hp2
NA19087.hp1
NA19091.hp1
 intron_variant MODIFIER c.1218+6260_1218+690
others(4): Show 
c.1218+6260_1218+6904del
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 594890
chr17:594906 C
C
 G
G
 1 a0001c0015t0126g0149
a0001c0015t0126g0149
 1 HG02723.hp1
HG02723.hp1
 intron_variant MODIFIER c.1218+6889G>C
c.1218+6889G>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 594906
chr17:594940 G
G
 C
C
 30 a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
others(27): Show 
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
 30 HG01257.hp2
HG01516.hp2
HG01517.hp1
others(27): Show 
HG01257.hp2
HG01516.hp2
HG01517.hp1
HG02074.hp1
HG02109.hp1
HG03831.hp2
NA18612.hp2
NA18906.hp1
NA18945.hp1
NA18950.hp2
NA18957.hp1
NA18959.hp1
NA18961.hp2
NA18962.hp1
NA18977.hp1
NA18978.hp1
NA18984.hp1
NA18986.hp2
NA18990.hp1
NA18994.hp1
NA19011.hp2
NA19060.hp1
NA19064.hp1
NA19068.hp1
NA19080.hp1
NA19081.hp1
NA19087.hp2
NA19091.hp2
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.1218+6855C>G
c.1218+6855C>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 594940
chr17:594964 C
C
 CCGCCCTG
others(64): Show 
CCGCCCTGGAGGAAGCTGGGAGATGGGAAGGGGTCTGGATCAATTTCCTG
ATTTGATGATGCACTCTAGTGT
 127 a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
others(124): Show 
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0001g0094
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0017g0225
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0035g0219
a0001c0002t0038g0224
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0050g0049
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0065g0093
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0077g0095
a0001c0002t0078g0041
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0002t0100g0223
a0001c0002t0109g0222
a0001c0002t0125g0116
a0001c0002t0143g0226
a0001c0002t0149g0202
a0001c0011t0051g0091
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0017g0179
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0018g0231
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0073g0068
a0002c0003t0085g0184
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0099g0192
a0002c0003t0104g0208
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0145g0187
a0002c0003t0146g0170
a0002c0003t0148g0174
a0002c0003t0150g0191
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
a0004c0008t0036g0207
a0004c0008t0103g0227
a0004c0008t0124g0229
a0004c0008t0133g0232
a0004c0008t0142g0228
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
 127 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(124): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00621.hp1
HG00621.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01099.hp1
HG01106.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01255.hp1
HG01256.hp1
HG01257.hp2
HG01258.hp1
HG01346.hp1
HG01361.hp1
HG01496.hp1
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01928.hp1
HG01978.hp1
HG01981.hp1
HG02040.hp1
HG02056.hp1
HG02074.hp1
HG02083.hp1
HG02109.hp1
HG02129.hp1
HG02132.hp1
HG02135.hp1
HG02280.hp1
HG02293.hp1
HG02300.hp1
HG02738.hp1
HG02738.hp2
HG02886.hp1
HG03491.hp2
HG03516.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG03942.hp2
HG04199.hp1
HG04204.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18946.hp1
NA18946.hp2
NA18948.hp2
NA18950.hp2
NA18955.hp1
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18967.hp1
NA18973.hp1
NA18973.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18990.hp1
NA18990.hp2
NA18994.hp1
NA19000.hp1
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19010.hp1
NA19011.hp1
NA19011.hp2
NA19060.hp1
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19070.hp1
NA19074.hp1
NA19079.hp1
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19084.hp1
NA19084.hp2
NA19087.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1218+6830_1218+683
others(75): Show 
c.1218+6830_1218+6831insACACTAGAGTGCATCATCAAATCAGG
AAATTGATCCAGACCCCTTCCCATCTCCCAGCTTCCTCCAGGGCG
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 594964
chr17:594964 C
C
 CCGCCCTG
others(207): Show 
CCGCCCTGGAGGAAGCTGGGAGATGGGAAGGGGTCTGGATCAATTTCCTG
ATTTGATGATGCACTCTAGTGTCCCCCTGGAGGAAGCTGGGAGATGGGAA
GGGGTCTGGATCAATTTCCTGGTTTGATGATGCACTCTAGTGTCCCCCCT
GGAGGAAGCTGGGAGATGGGAAGGGGTCTGGATCAATTTCCTGATTTGAT
GATGCACTCTAGTGT
 1 a0001c0002t0086g0221
a0001c0002t0086g0221
 1 HG02145.hp1
HG02145.hp1
 intron_variant MODIFIER c.1218+6830_1218+683
others(218): Show 
c.1218+6830_1218+6831insACACTAGAGTGCATCATCAAATCAGG
AAATTGATCCAGACCCCTTCCCATCTCCCAGCTTCCTCCAGGGGGGACAC
TAGAGTGCATCATCAAACCAGGAAATTGATCCAGACCCCTTCCCATCTCC
CAGCTTCCTCCAGGGGGACACTAGAGTGCATCATCAAATCAGGAAATTGA
TCCAGACCCCTTCCCATCTCCCAGCTTCCTCCAGGGCG
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 594964
chr17:594966 A
A
 C
C
 128 a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
others(125): Show 
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0001g0094
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0017g0225
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0035g0219
a0001c0002t0038g0224
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0050g0049
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0065g0093
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0077g0095
a0001c0002t0078g0041
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0002t0086g0221
a0001c0002t0100g0223
a0001c0002t0109g0222
a0001c0002t0125g0116
a0001c0002t0143g0226
a0001c0002t0149g0202
a0001c0011t0051g0091
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0017g0179
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0018g0231
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0073g0068
a0002c0003t0085g0184
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0099g0192
a0002c0003t0104g0208
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0145g0187
a0002c0003t0146g0170
a0002c0003t0148g0174
a0002c0003t0150g0191
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
a0004c0008t0036g0207
a0004c0008t0103g0227
a0004c0008t0124g0229
a0004c0008t0133g0232
a0004c0008t0142g0228
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
 128 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(125): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00621.hp1
HG00621.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01099.hp1
HG01106.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01255.hp1
HG01256.hp1
HG01257.hp2
HG01258.hp1
HG01346.hp1
HG01361.hp1
HG01496.hp1
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01928.hp1
HG01978.hp1
HG01981.hp1
HG02040.hp1
HG02056.hp1
HG02074.hp1
HG02083.hp1
HG02109.hp1
HG02129.hp1
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02280.hp1
HG02293.hp1
HG02300.hp1
HG02738.hp1
HG02738.hp2
HG02886.hp1
HG03491.hp2
HG03516.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG03942.hp2
HG04199.hp1
HG04204.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18946.hp1
NA18946.hp2
NA18948.hp2
NA18950.hp2
NA18955.hp1
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18967.hp1
NA18973.hp1
NA18973.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18990.hp1
NA18990.hp2
NA18994.hp1
NA19000.hp1
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19010.hp1
NA19011.hp1
NA19011.hp2
NA19060.hp1
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19070.hp1
NA19074.hp1
NA19079.hp1
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19084.hp1
NA19084.hp2
NA19087.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1218+6829T>G
c.1218+6829T>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 594966
chr17:594966 A
A
 G
G
 90 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(87): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0017g0158
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0032g0114
a0001c0001t0032g0204
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0034g0126
a0001c0001t0034g0162
a0001c0001t0069g0012
a0001c0001t0084g0046
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0097g0199
a0001c0001t0098g0147
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0105g0201
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0108g0148
a0001c0001t0110g0127
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0118g0195
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0122g0160
a0001c0001t0123g0123
a0001c0001t0127g0159
a0001c0001t0128g0132
a0001c0001t0134g0154
a0001c0001t0138g0161
a0001c0001t0141g0165
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0001c0014t0135g0166
a0001c0015t0126g0149
a0001c0016t0052g0099
a0002c0010t0038g0156
a0006c0012t0129g0140
a0007c0013t0132g0163
 90 HG00099.hp2
HG00280.hp2
HG00423.hp2
others(87): Show 
HG00099.hp2
HG00280.hp2
HG00423.hp2
HG00741.hp1
HG00741.hp2
HG01081.hp2
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01346.hp2
HG01361.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp2
HG01978.hp2
HG01981.hp2
HG02040.hp2
HG02056.hp2
HG02083.hp2
HG02109.hp2
HG02129.hp2
HG02132.hp2
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02723.hp1
HG02723.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03688.hp1
HG03688.hp2
HG04184.hp2
HG04199.hp2
HG04204.hp1
NA18940.hp2
NA18945.hp2
NA18948.hp1
NA18950.hp1
NA18961.hp1
NA18967.hp2
NA18978.hp2
NA18983.hp2
NA18987.hp2
NA19009.hp2
NA19060.hp2
NA19065.hp2
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19079.hp2
NA19081.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA21309.hp1
 intron_variant MODIFIER c.1218+6829T>C
c.1218+6829T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 594966
chr17:595013 G
G
 C
C
 2 a0001c0001t0122g0160
a0001c0001t0138g0161
a0001c0001t0122g0160
a0001c0001t0138g0161
 2 HG01257.hp1
HG01258.hp2
HG01257.hp1
HG01258.hp2
 intron_variant MODIFIER c.1218+6782C>G
c.1218+6782C>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 595013
chr17:595014 G
G
 A
A
 2 a0001c0014t0135g0166
a0001c0015t0126g0149
a0001c0014t0135g0166
a0001c0015t0126g0149
 2 HG02572.hp1
HG02723.hp1
HG02572.hp1
HG02723.hp1
 intron_variant MODIFIER c.1218+6781C>T
c.1218+6781C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 595014
chr17:595074 T
T
 C
C
 2 a0001c0001t0122g0160
a0001c0001t0138g0161
a0001c0001t0122g0160
a0001c0001t0138g0161
 2 HG01257.hp1
HG01258.hp2
HG01257.hp1
HG01258.hp2
 intron_variant MODIFIER c.1218+6721A>G
c.1218+6721A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 595074
chr17:595084 C
C
 G
G
 2 a0001c0014t0135g0166
a0001c0015t0126g0149
a0001c0014t0135g0166
a0001c0015t0126g0149
 2 HG02572.hp1
HG02723.hp1
HG02572.hp1
HG02723.hp1
 intron_variant MODIFIER c.1218+6711G>C
c.1218+6711G>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 595084
chr17:595145 C
C
 T
T
 5 a0001c0001t0122g0160
a0001c0001t0138g0161
a0001c0002t0078g0041
others(2): Show 
a0001c0001t0122g0160
a0001c0001t0138g0161
a0001c0002t0078g0041
a0001c0014t0135g0166
a0001c0015t0126g0149
 5 HG01257.hp1
HG01258.hp2
HG02572.hp1
others(2): Show 
HG01257.hp1
HG01258.hp2
HG02572.hp1
HG02723.hp1
HG03516.hp2
 intron_variant MODIFIER c.1218+6650G>A
c.1218+6650G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 595145
chr17:595176 G
G
 GCCCTGCC
others(138): Show 
GCCCTGCCCTGGAGGAAGCTGGGAGATGGGAAGGGGTCTGGATCAATTTC
CTGATTTGATGATGCACTCTAGTGTCCCCCTGGAGGAAGCTGGGAGATGG
GAAGGGGTCTGGATCAATTTCCTGGTTTGATGATGCACTCTAGTGT
 2 a0001c0001t0122g0160
a0001c0001t0138g0161
a0001c0001t0122g0160
a0001c0001t0138g0161
 2 HG01257.hp1
HG01258.hp2
HG01257.hp1
HG01258.hp2
 intron_variant MODIFIER c.1218+6618_1218+661
others(149): Show 
c.1218+6618_1218+6619insACACTAGAGTGCATCATCAAACCAGG
AAATTGATCCAGACCCCTTCCCATCTCCCAGCTTCCTCCAGGGGGACACT
AGAGTGCATCATCAAATCAGGAAATTGATCCAGACCCCTTCCCATCTCCC
AGCTTCCTCCAGGGCAGGG
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 595176
chr17:595177 T
T
 C
C
 2 a0001c0001t0122g0160
a0001c0001t0138g0161
a0001c0001t0122g0160
a0001c0001t0138g0161
 2 HG01257.hp1
HG01258.hp2
HG01257.hp1
HG01258.hp2
 intron_variant MODIFIER c.1218+6618A>G
c.1218+6618A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 595177
chr17:595177 T
T
 TCCCCCTG
others(65): Show 
TCCCCCTGGAGGAAGCTGGGAGATGGGAAGGGGTCTGGATCAATTTCCTC
GTTTGATGATGCACTCTAGTGTC
 2 a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0028g0196
a0001c0001t0028g0197
 2 HG02622.hp1
HG02723.hp2
HG02622.hp1
HG02723.hp2
 intron_variant MODIFIER c.1218+6617_1218+661
others(76): Show 
c.1218+6617_1218+6618insGACACTAGAGTGCATCATCAAACGAG
GAAATTGATCCAGACCCCTTCCCATCTCCCAGCTTCCTCCAGGGGG
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 595177
chr17:595216 T
T
 C
C
 2 a0001c0014t0135g0166
a0001c0015t0126g0149
a0001c0014t0135g0166
a0001c0015t0126g0149
 2 HG02572.hp1
HG02723.hp1
HG02572.hp1
HG02723.hp1
 intron_variant MODIFIER c.1218+6579A>G
c.1218+6579A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 595216
chr17:595226 C
C
 G
G
 15 a0001c0001t0122g0160
a0001c0001t0138g0161
a0001c0002t0017g0225
others(12): Show 
a0001c0001t0122g0160
a0001c0001t0138g0161
a0001c0002t0017g0225
a0001c0002t0035g0219
a0001c0002t0038g0224
a0001c0002t0050g0049
a0001c0002t0100g0223
a0001c0002t0109g0222
a0001c0002t0125g0116
a0001c0002t0143g0226
a0001c0002t0149g0202
a0004c0008t0103g0227
a0004c0008t0124g0229
a0004c0008t0133g0232
a0004c0008t0142g0228
 15 HG00099.hp1
HG00140.hp1
HG00438.hp1
others(12): Show 
HG00099.hp1
HG00140.hp1
HG00438.hp1
HG01257.hp1
HG01258.hp2
HG01346.hp1
HG01516.hp1
HG02280.hp1
HG03942.hp2
NA18944.hp2
NA18973.hp2
NA18990.hp2
NA19007.hp2
NA19011.hp1
NA19066.hp1
 intron_variant MODIFIER c.1218+6569G>C
c.1218+6569G>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 595226
chr17:595227 GTTTGATG
others(66): Show 
GTTTGATGATGCACTCTAGTGCCCTGCCCTGGAGGAAGCTGGGAGATGGG
AAGGGGTCTGGATCAATTTCCTGA
 G
G
 2 a0001c0014t0135g0166
a0001c0015t0126g0149
a0001c0014t0135g0166
a0001c0015t0126g0149
 2 HG02572.hp1
HG02723.hp1
HG02572.hp1
HG02723.hp1
 intron_variant MODIFIER c.1218+6495_1218+656
others(77): Show 
c.1218+6495_1218+6567delTCAGGAAATTGATCCAGACCCCTTCC
CATCTCCCAGCTTCCTCCAGGGCAGGGCACTAGAGTGCATCATCAAA
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 595227
chr17:595251 T
T
 C
C
 140 a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
others(137): Show 
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0001g0094
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0017g0225
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0035g0219
a0001c0002t0038g0224
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0050g0049
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0065g0093
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0077g0095
a0001c0002t0078g0041
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0002t0086g0221
a0001c0002t0100g0223
a0001c0002t0109g0222
a0001c0002t0125g0116
a0001c0002t0143g0226
a0001c0002t0149g0202
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0011t0051g0091
a0001c0016t0052g0099
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0017g0179
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0018g0231
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0073g0068
a0002c0003t0085g0184
a0002c0003t0089g0175
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0099g0192
a0002c0003t0104g0208
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0145g0187
a0002c0003t0146g0170
a0002c0003t0148g0174
a0002c0003t0150g0191
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
a0004c0008t0036g0207
a0004c0008t0103g0227
a0004c0008t0124g0229
a0004c0008t0133g0232
a0004c0008t0142g0228
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
 140 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(137): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00621.hp1
HG00621.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01255.hp1
HG01256.hp1
HG01257.hp2
HG01258.hp1
HG01346.hp1
HG01361.hp1
HG01496.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01928.hp1
HG01978.hp1
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02056.hp1
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02109.hp1
HG02129.hp1
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02280.hp1
HG02293.hp1
HG02300.hp1
HG02738.hp1
HG02738.hp2
HG02886.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03516.hp2
HG03688.hp1
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG03942.hp2
HG04199.hp1
HG04204.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18946.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp2
NA18955.hp1
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18967.hp1
NA18973.hp1
NA18973.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18990.hp1
NA18990.hp2
NA18994.hp1
NA19000.hp1
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19010.hp1
NA19011.hp1
NA19011.hp2
NA19060.hp1
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19070.hp1
NA19074.hp1
NA19079.hp1
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19084.hp1
NA19084.hp2
NA19087.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1218+6544A>G
c.1218+6544A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 595251
chr17:595257 G
G
 C
C
 2 a0001c0001t0122g0160
a0001c0001t0138g0161
a0001c0001t0122g0160
a0001c0001t0138g0161
 2 HG01257.hp1
HG01258.hp2
HG01257.hp1
HG01258.hp2
 intron_variant MODIFIER c.1218+6538C>G
c.1218+6538C>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 595257
chr17:595370 G
G
 C
C
 2 a0001c0014t0135g0166
a0001c0015t0126g0149
a0001c0014t0135g0166
a0001c0015t0126g0149
 2 HG02572.hp1
HG02723.hp1
HG02572.hp1
HG02723.hp1
 intron_variant MODIFIER c.1218+6425C>G
c.1218+6425C>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 595370
chr17:595373 T
T
 G
G
 2 a0001c0001t0122g0160
a0001c0001t0138g0161
a0001c0001t0122g0160
a0001c0001t0138g0161
 2 HG01257.hp1
HG01258.hp2
HG01257.hp1
HG01258.hp2
 intron_variant MODIFIER c.1218+6422A>C
c.1218+6422A>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 595373
chr17:595392 T
T
 C
C
 2 a0001c0014t0135g0166
a0001c0015t0126g0149
a0001c0014t0135g0166
a0001c0015t0126g0149
 2 HG02572.hp1
HG02723.hp1
HG02572.hp1
HG02723.hp1
 intron_variant MODIFIER c.1218+6403A>G
c.1218+6403A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 595392
chr17:595393 C
C
 T
T
 2 a0001c0001t0002g0213
a0001c0001t0034g0126
a0001c0001t0002g0213
a0001c0001t0034g0126
 2 HG01256.hp2
HG03688.hp2
HG01256.hp2
HG03688.hp2
 intron_variant MODIFIER c.1218+6402G>A
c.1218+6402G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 595393
chr17:595395 C
C
 CG
CG
 2 a0001c0014t0135g0166
a0001c0015t0126g0149
a0001c0014t0135g0166
a0001c0015t0126g0149
 2 HG02572.hp1
HG02723.hp1
HG02572.hp1
HG02723.hp1
 intron_variant MODIFIER c.1218+6399_1218+640
others(5): Show 
c.1218+6399_1218+6400insC
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 595395
chr17:595417 G
G
 A
A
 11 a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
others(8): Show 
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0016t0052g0099
 11 HG00099.hp2
HG00280.hp2
HG01099.hp2
others(8): Show 
HG00099.hp2
HG00280.hp2
HG01099.hp2
HG01168.hp2
HG01175.hp1
HG01515.hp2
HG01981.hp2
HG03491.hp1
HG03492.hp1
HG03688.hp1
NA18948.hp1
 intron_variant MODIFIER c.1218+6378C>T
c.1218+6378C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 595417
chr17:595443 G
G
 A
A
 2 a0001c0014t0135g0166
a0001c0015t0126g0149
a0001c0014t0135g0166
a0001c0015t0126g0149
 2 HG02572.hp1
HG02723.hp1
HG02572.hp1
HG02723.hp1
 intron_variant MODIFIER c.1218+6352C>T
c.1218+6352C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 595443
chr17:595464 C
C
 T
T
 2 a0001c0014t0135g0166
a0001c0015t0126g0149
a0001c0014t0135g0166
a0001c0015t0126g0149
 2 HG02572.hp1
HG02723.hp1
HG02572.hp1
HG02723.hp1
 intron_variant MODIFIER c.1218+6331G>A
c.1218+6331G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 595464
chr17:595466 CTG
CTG
 C
C
 2 a0001c0014t0135g0166
a0001c0015t0126g0149
a0001c0014t0135g0166
a0001c0015t0126g0149
 2 HG02572.hp1
HG02723.hp1
HG02572.hp1
HG02723.hp1
 intron_variant MODIFIER c.1218+6327_1218+632
others(6): Show 
c.1218+6327_1218+6328delCA
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 595466
chr17:595473 C
C
 G
G
 2 a0001c0014t0135g0166
a0001c0015t0126g0149
a0001c0014t0135g0166
a0001c0015t0126g0149
 2 HG02572.hp1
HG02723.hp1
HG02572.hp1
HG02723.hp1
 intron_variant MODIFIER c.1218+6322G>C
c.1218+6322G>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 595473
chr17:595515 G
G
 C
C
 2 a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0006t0068g0098
a0001c0006t0074g0097
 2 HG01099.hp2
NA18948.hp1
HG01099.hp2
NA18948.hp1
 intron_variant MODIFIER c.1218+6280C>G
c.1218+6280C>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 595515
chr17:595516 A
A
 G
G
 13 a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
others(10): Show 
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0014t0135g0166
a0001c0015t0126g0149
a0001c0016t0052g0099
 13 HG00099.hp2
HG00280.hp2
HG01099.hp2
others(10): Show 
HG00099.hp2
HG00280.hp2
HG01099.hp2
HG01168.hp2
HG01175.hp1
HG01515.hp2
HG01981.hp2
HG02572.hp1
HG02723.hp1
HG03491.hp1
HG03492.hp1
HG03688.hp1
NA18948.hp1
 intron_variant MODIFIER c.1218+6279T>C
c.1218+6279T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 595516
chr17:595536 G
G
 C
C
 10 a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
others(7): Show 
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
 10 HG02135.hp2
HG02602.hp1
NA18747.hp1
others(7): Show 
HG02135.hp2
HG02602.hp1
NA18747.hp1
NA18955.hp2
NA18960.hp2
NA18994.hp2
NA19000.hp2
NA19010.hp2
NA19087.hp1
NA19091.hp1
 intron_variant MODIFIER c.1218+6259C>G
c.1218+6259C>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 595536
chr17:595536 G
G
 GT
GT
 2 a0001c0014t0135g0166
a0001c0015t0126g0149
a0001c0014t0135g0166
a0001c0015t0126g0149
 2 HG02572.hp1
HG02723.hp1
HG02572.hp1
HG02723.hp1
 intron_variant MODIFIER c.1218+6258_1218+625
others(5): Show 
c.1218+6258_1218+6259insA
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 595536
chr17:595537 C
C
 T
T
 2 a0001c0001t0122g0160
a0001c0001t0138g0161
a0001c0001t0122g0160
a0001c0001t0138g0161
 2 HG01257.hp1
HG01258.hp2
HG01257.hp1
HG01258.hp2
 intron_variant MODIFIER c.1218+6258G>A
c.1218+6258G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 595537
chr17:595543 C
C
 CT
CT
 214 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(211): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0017g0158
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0032g0114
a0001c0001t0032g0204
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0034g0126
a0001c0001t0034g0162
a0001c0001t0069g0012
a0001c0001t0084g0046
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0097g0199
a0001c0001t0098g0147
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0105g0201
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0108g0148
a0001c0001t0110g0127
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0118g0195
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0123g0123
a0001c0001t0127g0159
a0001c0001t0128g0132
a0001c0001t0134g0154
a0001c0001t0141g0165
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0001g0094
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0017g0225
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0035g0219
a0001c0002t0038g0224
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0050g0049
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0065g0093
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0077g0095
a0001c0002t0078g0041
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0002t0086g0221
a0001c0002t0100g0223
a0001c0002t0109g0222
a0001c0002t0125g0116
a0001c0002t0143g0226
a0001c0002t0149g0202
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0001c0011t0051g0091
a0001c0016t0052g0099
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0017g0179
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0018g0231
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0073g0068
a0002c0003t0085g0184
a0002c0003t0089g0175
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0099g0192
a0002c0003t0104g0208
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0145g0187
a0002c0003t0146g0170
a0002c0003t0148g0174
a0002c0003t0150g0191
a0002c0010t0038g0156
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
a0004c0008t0036g0207
a0004c0008t0103g0227
a0004c0008t0124g0229
a0004c0008t0133g0232
a0004c0008t0142g0228
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
a0006c0012t0129g0140
a0007c0013t0132g0163
 214 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(211): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00621.hp1
HG00621.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02056.hp1
HG02056.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02145.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02572.hp2
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG03942.hp2
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18955.hp1
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18967.hp1
NA18973.hp1
NA18973.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18990.hp1
NA18990.hp2
NA18994.hp1
NA19000.hp1
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19011.hp1
NA19011.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1218+6251_1218+625
others(5): Show 
c.1218+6251_1218+6252insA
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 595543
chr17:595543 C
C
 CTGGAGGA
others(927): Show 
CTGGAGGAAGCTGGGAGATGGGAAGGGGTCTGGATCAATTTCCTGGTTTG
ATGATGCACTCTAGTGTCCCCCCTGGAGGAAGCTGGGAGATGGGAAGGGG
TCTGGATCAATTTCCTGGTTTGATGATGCACTCTAGTGCCCCCCCTGGAG
GAAGCTGGGAGATGGGAAGGGGTCTGGATCAATTTCCTGGTTTGATGATG
CACTCTAGTGTCCCCCTGGAGGAAGCTGGGAGATGGGAAGGGGTCTGGAT
CAATTTCCTGATTTGATGATGCACTCTAGTGTCCCCCTGGAGGAAGCTGG
GAGATGGGAAGGGGTCTGGATCAATTTCCTGGTTTGATGATGCACTCTAG
TGCCCCGCCCTGGAGGAAGCTGGGAGATGGGAAGGGGTCTGGATCAATTT
CCTGGTTTGATGATGCACTCTAGTGTCCCCCTGGAGGAAGCTGGGAGATG
GGAAGGGGTCTGGATCAATTTCCTCGTTTGATGATGCACTCTAGTGTCCC
CCTGGAGGAAGCTGGGAGATGGGAAGGGGTCTGGACCAATTTCCTCGTTT
GATGATGCACTCTAGTGTCCCCCTGGAGGAAGCTGGGAGATGGGAAGGGG
TCTGGATCAATTTCCTCGTTTGATGATGCACTCTAGTGCCCTGCCCTGGA
GGAAGCTGGGAGATGGGAAGGGGTCTGGATCAATTTCCTGATTTGATGAT
GCACTCTAGTGTCCCCCTGGAGGAAGCTGGGAGATGGGAAGGGGTCTGGA
TCAATTTCCTGGTTTGATGATGCACTCTAGTGTCCCCCCTGGAGGAAGCT
GGGAGATGGGAAGGGGTCTGGATCAATTTCCTGGTTTGATGATGCACTCT
AGTGCCCTGCCCTCGAGGAAGCTGGGAGATGGGAAGGGGTCTGGATCAAT
TTCCTGATTTGATGATGCACTCTAGTGCCCCCCCT
 1 a0001c0001t0016g0118
a0001c0001t0016g0118
 1 NA18967.hp2
NA18967.hp2
 intron_variant MODIFIER c.1218+6251_1218+625
others(938): Show 
c.1218+6251_1218+6252insAGGGGGGGCACTAGAGTGCATCATCA
AATCAGGAAATTGATCCAGACCCCTTCCCATCTCCCAGCTTCCTCGAGGG
CAGGGCACTAGAGTGCATCATCAAACCAGGAAATTGATCCAGACCCCTTC
CCATCTCCCAGCTTCCTCCAGGGGGGACACTAGAGTGCATCATCAAACCA
GGAAATTGATCCAGACCCCTTCCCATCTCCCAGCTTCCTCCAGGGGGACA
CTAGAGTGCATCATCAAATCAGGAAATTGATCCAGACCCCTTCCCATCTC
CCAGCTTCCTCCAGGGCAGGGCACTAGAGTGCATCATCAAACGAGGAAAT
TGATCCAGACCCCTTCCCATCTCCCAGCTTCCTCCAGGGGGACACTAGAG
TGCATCATCAAACGAGGAAATTGGTCCAGACCCCTTCCCATCTCCCAGCT
TCCTCCAGGGGGACACTAGAGTGCATCATCAAACGAGGAAATTGATCCAG
ACCCCTTCCCATCTCCCAGCTTCCTCCAGGGGGACACTAGAGTGCATCAT
CAAACCAGGAAATTGATCCAGACCCCTTCCCATCTCCCAGCTTCCTCCAG
GGCGGGGCACTAGAGTGCATCATCAAACCAGGAAATTGATCCAGACCCCT
TCCCATCTCCCAGCTTCCTCCAGGGGGACACTAGAGTGCATCATCAAATC
AGGAAATTGATCCAGACCCCTTCCCATCTCCCAGCTTCCTCCAGGGGGAC
ACTAGAGTGCATCATCAAACCAGGAAATTGATCCAGACCCCTTCCCATCT
CCCAGCTTCCTCCAGGGGGGGCACTAGAGTGCATCATCAAACCAGGAAAT
TGATCCAGACCCCTTCCCATCTCCCAGCTTCCTCCAGGGGGGACACTAGA
GTGCATCATCAAACCAGGAAATTGATCCAGACCCCTTCCCATCTCCCAGC
TTCCTCCA
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 595543
chr17:595543 C
C
 T
T
 14 a0001c0001t0122g0160
a0001c0001t0138g0161
a0001c0005t0010g0008
others(11): Show 
a0001c0001t0122g0160
a0001c0001t0138g0161
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0014t0135g0166
a0001c0015t0126g0149
 14 HG01257.hp1
HG01258.hp2
HG02135.hp2
others(11): Show 
HG01257.hp1
HG01258.hp2
HG02135.hp2
HG02572.hp1
HG02602.hp1
HG02723.hp1
NA18747.hp1
NA18955.hp2
NA18960.hp2
NA18994.hp2
NA19000.hp2
NA19010.hp2
NA19087.hp1
NA19091.hp1
 intron_variant MODIFIER c.1218+6252G>A
c.1218+6252G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 595543
chr17:595586 G
G
 C
C
 12 a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
others(9): Show 
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0014t0135g0166
a0001c0016t0052g0099
 12 HG00099.hp2
HG00280.hp2
HG01099.hp2
others(9): Show 
HG00099.hp2
HG00280.hp2
HG01099.hp2
HG01168.hp2
HG01175.hp1
HG01515.hp2
HG01981.hp2
HG02572.hp1
HG03491.hp1
HG03492.hp1
HG03688.hp1
NA18948.hp1
 intron_variant MODIFIER c.1218+6209C>G
c.1218+6209C>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 595586
chr17:595587 G
G
 GTTTGATG
others(568): Show 
GTTTGATGATGCACTCTAGTGCCCCGCCCTGGAGGAAGCTGGGAGATGGG
AAGGGGTCTGGATCAATTTCCTGGTTTGATGATGCACTCTAGTGTCCCCC
TGGAGGAAGCTGGGAGATGGGAAGGGGTCTGGATCAATTTCCTCGTTTGA
TGATGCACTCTAGTGTCCCCCTGGAGGAAGCTGGGAGATGGGAAGGGGTC
TGGACCAATTTCCTCGTTTGATGATGCACTCTAGTGTCCCCCTGGAGGAA
GCTGGGAGATGGGAAGGGGTCTGGATCAATTTCCTCGTTTGATGATGCAC
TCTAGTGCCCTGCCCTGGAGGAAGCTGGGAGATGGGAAGGGGTCTGGATC
AATTTCCTGATTTGATGATGCACTCTAGTGTCCCCCTGGAGGAAGCTGGG
AGATGGGAAGGGGTCTGGATCAATTTCCTGGTTTGATGATGCACTCTAGT
GTCCCCCCTGGAGGAAGCTGGGAGATGGGAAGGGGTCTGGATCAATTTCC
TGGTTTGATGATGCACTCTAGTGCCCTGCCCTCGAGGAAGCTGGGAGATG
GGAAGGGGTCTGGATCAATTTCCTGA
 2 a0001c0001t0122g0160
a0001c0001t0138g0161
a0001c0001t0122g0160
a0001c0001t0138g0161
 2 HG01257.hp1
HG01258.hp2
HG01257.hp1
HG01258.hp2
 intron_variant MODIFIER c.1218+6207_1218+620
others(579): Show 
c.1218+6207_1218+6208insTCAGGAAATTGATCCAGACCCCTTCC
CATCTCCCAGCTTCCTCGAGGGCAGGGCACTAGAGTGCATCATCAAACCA
GGAAATTGATCCAGACCCCTTCCCATCTCCCAGCTTCCTCCAGGGGGGAC
ACTAGAGTGCATCATCAAACCAGGAAATTGATCCAGACCCCTTCCCATCT
CCCAGCTTCCTCCAGGGGGACACTAGAGTGCATCATCAAATCAGGAAATT
GATCCAGACCCCTTCCCATCTCCCAGCTTCCTCCAGGGCAGGGCACTAGA
GTGCATCATCAAACGAGGAAATTGATCCAGACCCCTTCCCATCTCCCAGC
TTCCTCCAGGGGGACACTAGAGTGCATCATCAAACGAGGAAATTGGTCCA
GACCCCTTCCCATCTCCCAGCTTCCTCCAGGGGGACACTAGAGTGCATCA
TCAAACGAGGAAATTGATCCAGACCCCTTCCCATCTCCCAGCTTCCTCCA
GGGGGACACTAGAGTGCATCATCAAACCAGGAAATTGATCCAGACCCCTT
CCCATCTCCCAGCTTCCTCCAGGGCGGGGCACTAGAGTGCATCATCAAA
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 595587
chr17:595608 T
T
 C
C
 4 a0001c0001t0122g0160
a0001c0001t0138g0161
a0001c0014t0135g0166
others(1): Show 
a0001c0001t0122g0160
a0001c0001t0138g0161
a0001c0014t0135g0166
a0001c0015t0126g0149
 4 HG01257.hp1
HG01258.hp2
HG02572.hp1
others(1): Show 
HG01257.hp1
HG01258.hp2
HG02572.hp1
HG02723.hp1
 intron_variant MODIFIER c.1218+6187A>G
c.1218+6187A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 595608
chr17:595610 C
C
 CT
CT
 2 a0001c0014t0135g0166
a0001c0015t0126g0149
a0001c0014t0135g0166
a0001c0015t0126g0149
 2 HG02572.hp1
HG02723.hp1
HG02572.hp1
HG02723.hp1
 intron_variant MODIFIER c.1218+6184_1218+618
others(5): Show 
c.1218+6184_1218+6185insA
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 595610
chr17:595611 C
C
 G
G
 2 a0001c0014t0135g0166
a0001c0015t0126g0149
a0001c0014t0135g0166
a0001c0015t0126g0149
 2 HG02572.hp1
HG02723.hp1
HG02572.hp1
HG02723.hp1
 intron_variant MODIFIER c.1218+6184G>C
c.1218+6184G>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 595611
chr17:595616 G
G
 C
C
 2 a0001c0014t0135g0166
a0001c0015t0126g0149
a0001c0014t0135g0166
a0001c0015t0126g0149
 2 HG02572.hp1
HG02723.hp1
HG02572.hp1
HG02723.hp1
 intron_variant MODIFIER c.1218+6179C>G
c.1218+6179C>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 595616
chr17:595659 G
G
 A
A
 2 a0001c0014t0135g0166
a0001c0015t0126g0149
a0001c0014t0135g0166
a0001c0015t0126g0149
 2 HG02572.hp1
HG02723.hp1
HG02572.hp1
HG02723.hp1
 intron_variant MODIFIER c.1218+6136C>T
c.1218+6136C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 595659
chr17:595680 C
C
 T
T
 2 a0001c0001t0122g0160
a0001c0001t0138g0161
a0001c0001t0122g0160
a0001c0001t0138g0161
 2 HG01257.hp1
HG01258.hp2
HG01257.hp1
HG01258.hp2
 intron_variant MODIFIER c.1218+6115G>A
c.1218+6115G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 595680
chr17:595751 G
G
 GC
GC
 2 a0001c0001t0122g0160
a0001c0001t0138g0161
a0001c0001t0122g0160
a0001c0001t0138g0161
 2 HG01257.hp1
HG01258.hp2
HG01257.hp1
HG01258.hp2
 intron_variant MODIFIER c.1218+6043_1218+604
others(5): Show 
c.1218+6043_1218+6044insG
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 595751
chr17:595752 T
T
 C
C
 2 a0001c0001t0122g0160
a0001c0001t0138g0161
a0001c0001t0122g0160
a0001c0001t0138g0161
 2 HG01257.hp1
HG01258.hp2
HG01257.hp1
HG01258.hp2
 intron_variant MODIFIER c.1218+6043A>G
c.1218+6043A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 595752
chr17:595802 A
A
 G
G
 4 a0001c0001t0122g0160
a0001c0001t0138g0161
a0001c0014t0135g0166
others(1): Show 
a0001c0001t0122g0160
a0001c0001t0138g0161
a0001c0014t0135g0166
a0001c0015t0126g0149
 4 HG01257.hp1
HG01258.hp2
HG02572.hp1
others(1): Show 
HG01257.hp1
HG01258.hp2
HG02572.hp1
HG02723.hp1
 intron_variant MODIFIER c.1218+5993T>C
c.1218+5993T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 595802
chr17:595802 ATTTGATG
others(64): Show 
ATTTGATGATGCACTCTAGTGTCCCCCTGGAGGAAGCTGGGAGATGGGAA
GGGGTCTGGATCAATTTCCTCG
 A
A
 4 a0001c0001t0032g0114
a0001c0001t0095g0145
a0001c0001t0096g0146
others(1): Show 
a0001c0001t0032g0114
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0098g0147
 4 HG02818.hp2
HG02895.hp1
HG03225.hp2
others(1): Show 
HG02818.hp2
HG02895.hp1
HG03225.hp2
NA20300.hp2
 intron_variant MODIFIER c.1218+5922_1218+599
others(75): Show 
c.1218+5922_1218+5992delCGAGGAAATTGATCCAGACCCCTTCC
CATCTCCCAGCTTCCTCCAGGGGGACACTAGAGTGCATCATCAAA
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 595802
chr17:595802 ATTTGATG
others(135): Show 
ATTTGATGATGCACTCTAGTGTCCCCCTGGAGGAAGCTGGGAGATGGGAA
GGGGTCTGGATCAATTTCCTCGTTTGATGATGCACTCTAGTGTCCCCCTG
GAGGAAGCTGGGAGATGGGAAGGGGTCTGGATCAATTTCCTCG
 A
A
 10 a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
others(7): Show 
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
 10 HG02135.hp2
HG02602.hp1
NA18747.hp1
others(7): Show 
HG02135.hp2
HG02602.hp1
NA18747.hp1
NA18955.hp2
NA18960.hp2
NA18994.hp2
NA19000.hp2
NA19010.hp2
NA19087.hp1
NA19091.hp1
 intron_variant MODIFIER c.1218+5851_1218+599
others(4): Show 
c.1218+5851_1218+5992del
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 595802
chr17:595806 G
G
 C
C
 1 a0001c0001t0118g0195
a0001c0001t0118g0195
 1 HG01346.hp2
HG01346.hp2
 intron_variant MODIFIER c.1218+5989C>G
c.1218+5989C>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 595806
chr17:595822 G
G
 GC
GC
 2 a0001c0014t0135g0166
a0001c0015t0126g0149
a0001c0014t0135g0166
a0001c0015t0126g0149
 2 HG02572.hp1
HG02723.hp1
HG02572.hp1
HG02723.hp1
 intron_variant MODIFIER c.1218+5972_1218+597
others(5): Show 
c.1218+5972_1218+5973insG
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 595822
chr17:595823 T
T
 C
C
 2 a0001c0014t0135g0166
a0001c0015t0126g0149
a0001c0014t0135g0166
a0001c0015t0126g0149
 2 HG02572.hp1
HG02723.hp1
HG02572.hp1
HG02723.hp1
 intron_variant MODIFIER c.1218+5972A>G
c.1218+5972A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 595823
chr17:595872 C
C
 G
G
 2 a0001c0014t0135g0166
a0001c0015t0126g0149
a0001c0014t0135g0166
a0001c0015t0126g0149
 2 HG02572.hp1
HG02723.hp1
HG02572.hp1
HG02723.hp1
 intron_variant MODIFIER c.1218+5923G>C
c.1218+5923G>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 595872
chr17:595905 G
G
 A
A
 1 a0001c0001t0111g0164
a0001c0001t0111g0164
 1 HG02895.hp2
HG02895.hp2
 intron_variant MODIFIER c.1218+5890C>T
c.1218+5890C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 595905
chr17:595943 C
C
 G
G
 3 a0001c0002t0038g0224
a0001c0014t0135g0166
a0001c0015t0126g0149
a0001c0002t0038g0224
a0001c0014t0135g0166
a0001c0015t0126g0149
 3 HG01346.hp1
HG02572.hp1
HG02723.hp1
HG01346.hp1
HG02572.hp1
HG02723.hp1
 intron_variant MODIFIER c.1218+5852G>C
c.1218+5852G>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 595943
chr17:595944 G
G
 A
A
 2 a0001c0014t0135g0166
a0001c0015t0126g0149
a0001c0014t0135g0166
a0001c0015t0126g0149
 2 HG02572.hp1
HG02723.hp1
HG02572.hp1
HG02723.hp1
 intron_variant MODIFIER c.1218+5851C>T
c.1218+5851C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 595944
chr17:595976 G
G
 A
A
 43 a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
others(40): Show 
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0078g0041
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0002c0003t0073g0068
 43 HG00140.hp2
HG00280.hp1
HG00323.hp1
others(40): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp1
HG00621.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01106.hp1
HG01167.hp2
HG01168.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01361.hp1
HG01496.hp1
HG01978.hp1
HG02135.hp1
HG02738.hp1
HG02886.hp1
HG03516.hp2
HG04204.hp2
NA18906.hp2
NA18940.hp1
NA18944.hp1
NA18946.hp2
NA18948.hp2
NA18959.hp2
NA18960.hp1
NA18962.hp2
NA18967.hp1
NA18973.hp1
NA18977.hp2
NA18979.hp1
NA19007.hp1
NA19009.hp1
NA19065.hp1
NA19070.hp1
NA19079.hp1
NA19084.hp1
NA19090.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1218+5819C>T
c.1218+5819C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 595976
chr17:596046 C
C
 G
G
 12 a0001c0001t0017g0158
a0001c0001t0032g0204
a0001c0001t0033g0205
others(9): Show 
a0001c0001t0017g0158
a0001c0001t0032g0204
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0034g0162
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0122g0160
a0001c0001t0127g0159
a0001c0001t0138g0161
a0001c0001t0141g0165
a0007c0013t0132g0163
 12 HG00741.hp1
HG01106.hp2
HG01109.hp1
others(9): Show 
HG00741.hp1
HG01106.hp2
HG01109.hp1
HG01257.hp1
HG01258.hp2
HG01891.hp1
HG02886.hp2
HG02895.hp2
HG02922.hp1
HG03225.hp1
HG04204.hp1
NA20129.hp1
 intron_variant MODIFIER c.1218+5749G>C
c.1218+5749G>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 596046
chr17:596057 C
C
 A
A
 153 a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
others(150): Show 
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0001g0094
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0017g0225
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0035g0219
a0001c0002t0038g0224
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0050g0049
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0065g0093
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0077g0095
a0001c0002t0078g0041
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0002t0086g0221
a0001c0002t0100g0223
a0001c0002t0109g0222
a0001c0002t0125g0116
a0001c0002t0143g0226
a0001c0002t0149g0202
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0011t0051g0091
a0001c0014t0135g0166
a0001c0015t0126g0149
a0001c0016t0052g0099
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0017g0179
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0018g0231
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0073g0068
a0002c0003t0085g0184
a0002c0003t0089g0175
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0099g0192
a0002c0003t0104g0208
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0145g0187
a0002c0003t0146g0170
a0002c0003t0148g0174
a0002c0003t0150g0191
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
a0004c0008t0035g0203
a0004c0008t0036g0207
a0004c0008t0103g0227
a0004c0008t0124g0229
a0004c0008t0133g0232
a0004c0008t0142g0228
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
 153 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(150): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00621.hp1
HG00621.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01255.hp1
HG01256.hp1
HG01257.hp2
HG01258.hp1
HG01346.hp1
HG01361.hp1
HG01496.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01928.hp1
HG01978.hp1
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02056.hp1
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02109.hp1
HG02129.hp1
HG02132.hp1
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02280.hp1
HG02293.hp1
HG02300.hp1
HG02572.hp1
HG02602.hp1
HG02723.hp1
HG02738.hp1
HG02738.hp2
HG02886.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03516.hp2
HG03688.hp1
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04199.hp1
HG04204.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18946.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp2
NA18955.hp1
NA18955.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18967.hp1
NA18973.hp1
NA18973.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18990.hp1
NA18990.hp2
NA18994.hp1
NA18994.hp2
NA19000.hp1
NA19000.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19060.hp1
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19070.hp1
NA19074.hp1
NA19079.hp1
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19087.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1218+5738G>T
c.1218+5738G>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 596057
chr17:596091 T
T
 C
C
 8 a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
others(5): Show 
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0097g0199
a0001c0001t0105g0201
 8 HG01109.hp2
HG01884.hp1
HG02622.hp1
others(5): Show 
HG01109.hp2
HG01884.hp1
HG02622.hp1
HG02622.hp2
HG02723.hp2
HG02818.hp1
HG02922.hp2
HG03139.hp2
 intron_variant MODIFIER c.1218+5704A>G
c.1218+5704A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 596091
chr17:596110 C
C
 G
G
 1 a0001c0002t0109g0222
a0001c0002t0109g0222
 1 HG00099.hp1
HG00099.hp1
 intron_variant MODIFIER c.1218+5685G>C
c.1218+5685G>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 596110
chr17:596130 T
T
 A
A
 1 a0001c0001t0096g0146
a0001c0001t0096g0146
 1 HG03225.hp2
HG03225.hp2
 intron_variant MODIFIER c.1218+5665A>T
c.1218+5665A>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 596130
chr17:596193 C
C
 G
G
 44 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(41): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0034g0126
a0001c0001t0069g0012
a0001c0001t0094g0129
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0110g0127
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0123g0123
a0001c0001t0128g0132
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0006c0012t0129g0140
 44 HG00423.hp2
HG00741.hp2
HG01081.hp2
others(41): Show 
HG00423.hp2
HG00741.hp2
HG01081.hp2
HG01175.hp2
HG01192.hp2
HG01255.hp2
HG01256.hp2
HG01361.hp2
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp2
HG01928.hp2
HG01978.hp2
HG02040.hp2
HG02056.hp2
HG02083.hp2
HG02109.hp2
HG02129.hp2
HG02132.hp2
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02602.hp2
HG03492.hp2
HG03688.hp2
HG04184.hp2
HG04199.hp2
NA18940.hp2
NA18945.hp2
NA18950.hp1
NA18961.hp1
NA18967.hp2
NA18978.hp2
NA18983.hp2
NA18987.hp2
NA19009.hp2
NA19060.hp2
NA19065.hp2
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19079.hp2
NA19081.hp2
 intron_variant MODIFIER c.1218+5602G>C
c.1218+5602G>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 596193
chr17:596503 C
C
 A
A
 14 a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
others(11): Show 
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0097g0199
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0105g0201
a0001c0001t0118g0195
a0001c0001t0134g0154
 14 HG01109.hp2
HG01346.hp2
HG01884.hp1
others(11): Show 
HG01109.hp2
HG01346.hp2
HG01884.hp1
HG01891.hp2
HG02572.hp2
HG02622.hp1
HG02622.hp2
HG02723.hp2
HG02818.hp1
HG02922.hp2
HG03139.hp1
HG03139.hp2
NA20129.hp2
NA20300.hp1
 intron_variant MODIFIER c.1218+5292G>T
c.1218+5292G>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 596503
chr17:596616 G
G
 C
C
 1 a0001c0002t0017g0225
a0001c0002t0017g0225
 1 HG01516.hp1
HG01516.hp1
 intron_variant MODIFIER c.1218+5179C>G
c.1218+5179C>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 596616
chr17:597386 T
T
 C
C
 4 a0001c0001t0032g0114
a0001c0001t0095g0145
a0001c0001t0096g0146
others(1): Show 
a0001c0001t0032g0114
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0098g0147
 4 HG02818.hp2
HG02895.hp1
HG03225.hp2
others(1): Show 
HG02818.hp2
HG02895.hp1
HG03225.hp2
NA20300.hp2
 intron_variant MODIFIER c.1218+4409A>G
c.1218+4409A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 597386
chr17:597431 C
C
 G
G
 230 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(227): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0017g0158
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0032g0114
a0001c0001t0032g0204
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0034g0126
a0001c0001t0034g0162
a0001c0001t0069g0012
a0001c0001t0084g0046
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0097g0199
a0001c0001t0098g0147
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0105g0201
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0108g0148
a0001c0001t0110g0127
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0118g0195
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0122g0160
a0001c0001t0123g0123
a0001c0001t0127g0159
a0001c0001t0128g0132
a0001c0001t0134g0154
a0001c0001t0138g0161
a0001c0001t0141g0165
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0001g0094
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0017g0225
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0035g0219
a0001c0002t0038g0224
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0050g0049
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0065g0093
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0077g0095
a0001c0002t0078g0041
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0002t0086g0221
a0001c0002t0100g0223
a0001c0002t0109g0222
a0001c0002t0125g0116
a0001c0002t0143g0226
a0001c0002t0149g0202
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0001c0011t0051g0091
a0001c0014t0135g0166
a0001c0015t0126g0149
a0001c0016t0052g0099
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0017g0179
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0018g0231
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0073g0068
a0002c0003t0085g0184
a0002c0003t0089g0175
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0099g0192
a0002c0003t0104g0208
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0145g0187
a0002c0003t0146g0170
a0002c0003t0148g0174
a0002c0003t0150g0191
a0002c0010t0038g0156
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
a0004c0008t0035g0203
a0004c0008t0036g0207
a0004c0008t0103g0227
a0004c0008t0124g0229
a0004c0008t0133g0232
a0004c0008t0142g0228
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
a0006c0012t0129g0140
a0007c0013t0132g0163
 230 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(227): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00621.hp1
HG00621.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02056.hp1
HG02056.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18955.hp1
NA18955.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18967.hp1
NA18967.hp2
NA18973.hp1
NA18973.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18990.hp1
NA18990.hp2
NA18994.hp1
NA18994.hp2
NA19000.hp1
NA19000.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19087.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1218+4364G>C
c.1218+4364G>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 597431
chr17:597487 G
G
 C
C
 1 a0001c0002t0078g0041
a0001c0002t0078g0041
 1 HG03516.hp2
HG03516.hp2
 intron_variant MODIFIER c.1218+4308C>G
c.1218+4308C>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 597487
chr17:597496 A
A
 G
G
 1 a0001c0002t0014g0077
a0001c0002t0014g0077
 1 NA18967.hp1
NA18967.hp1
 intron_variant MODIFIER c.1218+4299T>C
c.1218+4299T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 597496
chr17:597599 A
A
 G
G
 11 a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
others(8): Show 
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0016t0052g0099
 11 HG00099.hp2
HG00280.hp2
HG01099.hp2
others(8): Show 
HG00099.hp2
HG00280.hp2
HG01099.hp2
HG01168.hp2
HG01175.hp1
HG01515.hp2
HG01981.hp2
HG03491.hp1
HG03492.hp1
HG03688.hp1
NA18948.hp1
 intron_variant MODIFIER c.1218+4196T>C
c.1218+4196T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 597599
chr17:597630 C
C
 T
T
 11 a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
others(8): Show 
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0016t0052g0099
 11 HG00099.hp2
HG00280.hp2
HG01099.hp2
others(8): Show 
HG00099.hp2
HG00280.hp2
HG01099.hp2
HG01168.hp2
HG01175.hp1
HG01515.hp2
HG01981.hp2
HG03491.hp1
HG03492.hp1
HG03688.hp1
NA18948.hp1
 intron_variant MODIFIER c.1218+4165G>A
c.1218+4165G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 597630
chr17:597690 G
G
 A
A
 55 a0001c0002t0017g0225
a0001c0002t0035g0219
a0001c0002t0038g0224
others(52): Show 
a0001c0002t0017g0225
a0001c0002t0035g0219
a0001c0002t0038g0224
a0001c0002t0050g0049
a0001c0002t0086g0221
a0001c0002t0100g0223
a0001c0002t0109g0222
a0001c0002t0125g0116
a0001c0002t0143g0226
a0001c0002t0149g0202
a0001c0014t0135g0166
a0001c0015t0126g0149
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0017g0179
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0018g0231
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0085g0184
a0002c0003t0089g0175
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0099g0192
a0002c0003t0104g0208
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0145g0187
a0002c0003t0146g0170
a0002c0003t0148g0174
a0002c0003t0150g0191
a0004c0008t0035g0203
a0004c0008t0036g0207
a0004c0008t0103g0227
a0004c0008t0124g0229
a0004c0008t0133g0232
a0004c0008t0142g0228
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
 55 HG00099.hp1
HG00140.hp1
HG00323.hp2
others(52): Show 
HG00099.hp1
HG00140.hp1
HG00323.hp2
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00621.hp1
HG01070.hp2
HG01071.hp1
HG01099.hp1
HG01167.hp1
HG01346.hp1
HG01516.hp1
HG01928.hp1
HG01981.hp1
HG02040.hp1
HG02056.hp1
HG02074.hp2
HG02083.hp1
HG02129.hp1
HG02132.hp1
HG02145.hp1
HG02280.hp1
HG02293.hp1
HG02300.hp1
HG02572.hp1
HG02723.hp1
HG02738.hp2
HG03491.hp2
HG03831.hp1
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04199.hp1
NA18612.hp1
NA18944.hp2
NA18946.hp1
NA18955.hp1
NA18957.hp2
NA18973.hp2
NA18979.hp2
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA18990.hp2
NA19000.hp1
NA19007.hp2
NA19010.hp1
NA19011.hp1
NA19066.hp1
NA19066.hp2
NA19074.hp1
NA19080.hp2
NA19084.hp2
NA19090.hp2
 intron_variant MODIFIER c.1218+4105C>T
c.1218+4105C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 597690
chr17:597714 G
G
 C
C
 1 a0002c0003t0018g0172
a0002c0003t0018g0172
 1 HG02129.hp1
HG02129.hp1
 intron_variant MODIFIER c.1218+4081C>G
c.1218+4081C>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 597714
chr17:597735 C
C
 T
T
 2 a0001c0014t0135g0166
a0001c0015t0126g0149
a0001c0014t0135g0166
a0001c0015t0126g0149
 2 HG02572.hp1
HG02723.hp1
HG02572.hp1
HG02723.hp1
 intron_variant MODIFIER c.1218+4060G>A
c.1218+4060G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 597735
chr17:597881 A
A
 T
T
 2 a0001c0002t0001g0066
a0001c0002t0050g0049
a0001c0002t0001g0066
a0001c0002t0050g0049
 2 HG02280.hp1
HG04204.hp2
HG02280.hp1
HG04204.hp2
 intron_variant MODIFIER c.1218+3914T>A
c.1218+3914T>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 597881
chr17:597949 G
G
 GCTCTCC
GCTCTCC
 4 a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
others(1): Show 
a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0011t0051g0091
 4 HG01074.hp2
NA18747.hp2
NA18984.hp2
others(1): Show 
HG01074.hp2
NA18747.hp2
NA18984.hp2
NA19064.hp2
 intron_variant MODIFIER c.1218+3840_1218+384
others(10): Show 
c.1218+3840_1218+3845dupGGAGAG
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 597949
chr17:597962 C
C
 CTCTCCCT
others(10): Show 
CTCTCCCTCTCCCCACGG
 220 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(217): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0017g0158
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0032g0114
a0001c0001t0032g0204
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0034g0126
a0001c0001t0034g0162
a0001c0001t0069g0012
a0001c0001t0084g0046
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0097g0199
a0001c0001t0098g0147
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0105g0201
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0110g0127
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0118g0195
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0122g0160
a0001c0001t0123g0123
a0001c0001t0127g0159
a0001c0001t0128g0132
a0001c0001t0134g0154
a0001c0001t0138g0161
a0001c0001t0141g0165
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0017g0225
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0035g0219
a0001c0002t0038g0224
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0050g0049
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0078g0041
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0002t0086g0221
a0001c0002t0100g0223
a0001c0002t0109g0222
a0001c0002t0125g0116
a0001c0002t0143g0226
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0001c0014t0135g0166
a0001c0015t0126g0149
a0001c0016t0052g0099
a0002c0003t0008g0180
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0018g0231
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0073g0068
a0002c0003t0085g0184
a0002c0003t0089g0175
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0099g0192
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0145g0187
a0002c0003t0146g0170
a0002c0003t0148g0174
a0002c0003t0150g0191
a0002c0010t0038g0156
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
a0004c0008t0035g0203
a0004c0008t0036g0207
a0004c0008t0103g0227
a0004c0008t0124g0229
a0004c0008t0133g0232
a0004c0008t0142g0228
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
a0006c0012t0129g0140
a0007c0013t0132g0163
 220 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(217): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00621.hp1
HG00621.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02056.hp1
HG02056.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
NA18612.hp1
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18955.hp1
NA18955.hp2
NA18957.hp1
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18967.hp1
NA18967.hp2
NA18973.hp1
NA18973.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18986.hp1
NA18986.hp2
NA18987.hp2
NA18990.hp1
NA18990.hp2
NA18994.hp1
NA18994.hp2
NA19000.hp1
NA19000.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19087.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1218+3816_1218+383
others(21): Show 
c.1218+3816_1218+3832dupCCGTGGGGAGAGGGAGA
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 597962
chr17:597962 C
C
 CTCTCCCT
others(27): Show 
CTCTCCCTCTCCCCACGGTCTCCCTCTCCCCACGG
 1 a0001c0002t0149g0202
a0001c0002t0149g0202
 1 HG03942.hp2
HG03942.hp2
 intron_variant MODIFIER c.1218+3832_1218+383
others(38): Show 
c.1218+3832_1218+3833insCCGTGGGGAGAGGGAGACCGTGGGGA
GAGGGAGA
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 597962
chr17:597972 C
C
 CCCCACGG
others(9): Show 
CCCCACGGTCTCCCTCT
 1 a0002c0003t0017g0179
a0002c0003t0017g0179
 1 NA18957.hp2
NA18957.hp2
 intron_variant MODIFIER c.1218+3807_1218+382
others(20): Show 
c.1218+3807_1218+3822dupAGAGGGAGACCGTGGG
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 597972
chr17:597977 C
C
 CGGTCTCC
others(10): Show 
CGGTCTCCCTCTCCCCAT
 3 a0002c0003t0008g0182
a0002c0003t0104g0208
a0003c0004t0004g0025
a0002c0003t0008g0182
a0002c0003t0104g0208
a0003c0004t0004g0025
 3 HG02083.hp1
NA18612.hp2
NA18987.hp1
HG02083.hp1
NA18612.hp2
NA18987.hp1
 intron_variant MODIFIER c.1218+3817_1218+381
others(21): Show 
c.1218+3817_1218+3818insATGGGGAGAGGGAGACC
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 597977
chr17:598024 C
C
 T
T
 3 a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0134g0154
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0134g0154
 3 HG01891.hp2
NA20129.hp2
NA20300.hp1
HG01891.hp2
NA20129.hp2
NA20300.hp1
 intron_variant MODIFIER c.1218+3771G>A
c.1218+3771G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 598024
chr17:598123 C
C
 T
T
 38 a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
others(35): Show 
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0017g0179
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0018g0231
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0085g0184
a0002c0003t0089g0175
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0099g0192
a0002c0003t0104g0208
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0145g0187
a0002c0003t0146g0170
a0002c0003t0148g0174
a0002c0003t0150g0191
a0004c0008t0036g0207
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
 38 HG00323.hp2
HG00423.hp1
HG00438.hp2
others(35): Show 
HG00323.hp2
HG00423.hp1
HG00438.hp2
HG00621.hp1
HG01070.hp2
HG01071.hp1
HG01099.hp1
HG01167.hp1
HG01928.hp1
HG01981.hp1
HG02040.hp1
HG02056.hp1
HG02074.hp2
HG02083.hp1
HG02129.hp1
HG02132.hp1
HG02293.hp1
HG02300.hp1
HG02738.hp2
HG03491.hp2
HG03831.hp1
HG03942.hp1
HG04199.hp1
NA18612.hp1
NA18946.hp1
NA18955.hp1
NA18957.hp2
NA18979.hp2
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA19000.hp1
NA19010.hp1
NA19066.hp2
NA19074.hp1
NA19080.hp2
NA19084.hp2
NA19090.hp2
 intron_variant MODIFIER c.1218+3672G>A
c.1218+3672G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 598123
chr17:598210 G
G
 A
A
 1 a0001c0002t0100g0223
a0001c0002t0100g0223
 1 NA18944.hp2
NA18944.hp2
 intron_variant MODIFIER c.1218+3585C>T
c.1218+3585C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 598210
chr17:598231 G
G
 A
A
 30 a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
others(27): Show 
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
 30 HG01257.hp2
HG01516.hp2
HG01517.hp1
others(27): Show 
HG01257.hp2
HG01516.hp2
HG01517.hp1
HG02074.hp1
HG02109.hp1
HG03831.hp2
NA18612.hp2
NA18906.hp1
NA18945.hp1
NA18950.hp2
NA18957.hp1
NA18959.hp1
NA18961.hp2
NA18962.hp1
NA18977.hp1
NA18978.hp1
NA18984.hp1
NA18986.hp2
NA18990.hp1
NA18994.hp1
NA19011.hp2
NA19060.hp1
NA19064.hp1
NA19068.hp1
NA19080.hp1
NA19081.hp1
NA19087.hp2
NA19091.hp2
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.1218+3564C>T
c.1218+3564C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 598231
chr17:598235 T
T
 G
G
 43 a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
others(40): Show 
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0078g0041
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0002c0003t0073g0068
 43 HG00140.hp2
HG00280.hp1
HG00323.hp1
others(40): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp1
HG00621.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01106.hp1
HG01167.hp2
HG01168.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01361.hp1
HG01496.hp1
HG01978.hp1
HG02135.hp1
HG02738.hp1
HG02886.hp1
HG03516.hp2
HG04204.hp2
NA18906.hp2
NA18940.hp1
NA18944.hp1
NA18946.hp2
NA18948.hp2
NA18959.hp2
NA18960.hp1
NA18962.hp2
NA18967.hp1
NA18973.hp1
NA18977.hp2
NA18979.hp1
NA19007.hp1
NA19009.hp1
NA19065.hp1
NA19070.hp1
NA19079.hp1
NA19084.hp1
NA19090.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1218+3560A>C
c.1218+3560A>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 598235
chr17:598400 A
A
 G
G
 142 a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
others(139): Show 
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0001g0094
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0017g0225
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0035g0219
a0001c0002t0038g0224
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0050g0049
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0065g0093
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0077g0095
a0001c0002t0078g0041
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0002t0086g0221
a0001c0002t0100g0223
a0001c0002t0109g0222
a0001c0002t0125g0116
a0001c0002t0143g0226
a0001c0002t0149g0202
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0011t0051g0091
a0001c0014t0135g0166
a0001c0015t0126g0149
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0017g0179
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0018g0231
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0073g0068
a0002c0003t0085g0184
a0002c0003t0089g0175
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0099g0192
a0002c0003t0104g0208
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0145g0187
a0002c0003t0146g0170
a0002c0003t0148g0174
a0002c0003t0150g0191
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
a0004c0008t0035g0203
a0004c0008t0036g0207
a0004c0008t0103g0227
a0004c0008t0124g0229
a0004c0008t0133g0232
a0004c0008t0142g0228
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
 142 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(139): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00621.hp1
HG00621.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01099.hp1
HG01106.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01255.hp1
HG01256.hp1
HG01257.hp2
HG01258.hp1
HG01346.hp1
HG01361.hp1
HG01496.hp1
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01928.hp1
HG01978.hp1
HG01981.hp1
HG02040.hp1
HG02056.hp1
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02109.hp1
HG02129.hp1
HG02132.hp1
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02280.hp1
HG02293.hp1
HG02300.hp1
HG02572.hp1
HG02602.hp1
HG02723.hp1
HG02738.hp1
HG02738.hp2
HG02886.hp1
HG03491.hp2
HG03516.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04199.hp1
HG04204.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18946.hp1
NA18946.hp2
NA18948.hp2
NA18950.hp2
NA18955.hp1
NA18955.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18967.hp1
NA18973.hp1
NA18973.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18990.hp1
NA18990.hp2
NA18994.hp1
NA18994.hp2
NA19000.hp1
NA19000.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19060.hp1
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19070.hp1
NA19074.hp1
NA19079.hp1
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19087.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1218+3395T>C
c.1218+3395T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 598400
chr17:598413 T
T
 TGGCCGCC
others(149): Show 
TGGCCGCCGATCATCTGGGATGTGAGGAGCCCCTCTGCCTGGCTGCCCAG
TCTGGAAAGTGAGGAGCGTCTCCGCCCGGCCCCCATCCCATCTAGGAAGT
GAGGAGCACCTCTTCCCGGCCGCCATCACATCTAGGAAGTGAGGAGCGTC
TCTGCCC
 2 a0001c0014t0135g0166
a0001c0015t0126g0149
a0001c0014t0135g0166
a0001c0015t0126g0149
 2 HG02572.hp1
HG02723.hp1
HG02572.hp1
HG02723.hp1
 intron_variant MODIFIER c.1218+3381_1218+338
others(160): Show 
c.1218+3381_1218+3382insGGGCAGAGACGCTCCTCACTTCCTAG
ATGTGATGGCGGCCGGGAAGAGGTGCTCCTCACTTCCTAGATGGGATGGG
GGCCGGGCGGAGACGCTCCTCACTTTCCAGACTGGGCAGCCAGGCAGAGG
GGCTCCTCACATCCCAGATGATCGGCGGCC
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 598413
chr17:598425 A
A
 ATCTGGGA
others(149): Show 
ATCTGGGATGTGAGGAGCCCCTCTGCCTGGCTGCCCAGTCTGGAAAGTGA
GGAGCGTCTCCGCCCGGCCCCCATCCCATCTAGGAAGTGAGGAGCACCTC
TTCCCGGCCGCCATCACATCTAGGAAGTGAGGAGCGTCTCTGCCCGGCCG
CCCATCG
 96 a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
others(93): Show 
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0017g0225
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0035g0219
a0001c0002t0038g0224
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0050g0049
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0078g0041
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0002t0086g0221
a0001c0002t0100g0223
a0001c0002t0109g0222
a0001c0002t0125g0116
a0001c0002t0143g0226
a0001c0002t0149g0202
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0017g0179
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0018g0231
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0073g0068
a0002c0003t0085g0184
a0002c0003t0089g0175
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0099g0192
a0002c0003t0104g0208
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0145g0187
a0002c0003t0146g0170
a0002c0003t0148g0174
a0002c0003t0150g0191
a0004c0008t0035g0203
a0004c0008t0036g0207
a0004c0008t0103g0227
a0004c0008t0124g0229
a0004c0008t0133g0232
a0004c0008t0142g0228
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
 96 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(93): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00621.hp1
HG00621.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01099.hp1
HG01106.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01346.hp1
HG01361.hp1
HG01496.hp1
HG01516.hp1
HG01928.hp1
HG01978.hp1
HG01981.hp1
HG02040.hp1
HG02056.hp1
HG02074.hp2
HG02083.hp1
HG02129.hp1
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02280.hp1
HG02293.hp1
HG02300.hp1
HG02738.hp1
HG02738.hp2
HG02886.hp1
HG03491.hp2
HG03516.hp2
HG03831.hp1
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04199.hp1
HG04204.hp2
NA18612.hp1
NA18906.hp2
NA18940.hp1
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp2
NA18955.hp1
NA18957.hp2
NA18959.hp2
NA18960.hp1
NA18962.hp2
NA18967.hp1
NA18973.hp1
NA18973.hp2
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA18990.hp2
NA19000.hp1
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19010.hp1
NA19011.hp1
NA19065.hp1
NA19066.hp1
NA19066.hp2
NA19070.hp1
NA19074.hp1
NA19079.hp1
NA19080.hp2
NA19084.hp1
NA19084.hp2
NA19090.hp1
NA19090.hp2
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1218+3369_1218+337
others(160): Show 
c.1218+3369_1218+3370insCGATGGGCGGCCGGGCAGAGACGCTC
CTCACTTCCTAGATGTGATGGCGGCCGGGAAGAGGTGCTCCTCACTTCCT
AGATGGGATGGGGGCCGGGCGGAGACGCTCCTCACTTTCCAGACTGGGCA
GCCAGGCAGAGGGGCTCCTCACATCCCAGA
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 598425
chr17:598425 A
A
 G
G
 2 a0001c0014t0135g0166
a0001c0015t0126g0149
a0001c0014t0135g0166
a0001c0015t0126g0149
 2 HG02572.hp1
HG02723.hp1
HG02572.hp1
HG02723.hp1
 intron_variant MODIFIER c.1218+3370T>C
c.1218+3370T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 598425
chr17:598479 C
C
 T
T
 1 a0001c0011t0051g0091
a0001c0011t0051g0091
 1 HG01074.hp2
HG01074.hp2
 intron_variant MODIFIER c.1218+3316G>A
c.1218+3316G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 598479
chr17:598546 AG
AG
 A
A
 4 a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
others(1): Show 
a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0011t0051g0091
 4 HG01074.hp2
NA18747.hp2
NA18984.hp2
others(1): Show 
HG01074.hp2
NA18747.hp2
NA18984.hp2
NA19064.hp2
 intron_variant MODIFIER c.1218+3248delC
c.1218+3248delC
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 598546
chr17:598564 C
C
 A
A
 10 a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
others(7): Show 
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
 10 HG02135.hp2
HG02602.hp1
NA18747.hp1
others(7): Show 
HG02135.hp2
HG02602.hp1
NA18747.hp1
NA18955.hp2
NA18960.hp2
NA18994.hp2
NA19000.hp2
NA19010.hp2
NA19087.hp1
NA19091.hp1
 intron_variant MODIFIER c.1218+3231G>T
c.1218+3231G>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 598564
chr17:598570 G
G
 A
A
 22 a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0088g0152
others(19): Show 
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0088g0152
a0001c0001t0097g0199
a0002c0003t0017g0179
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0089g0175
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0146g0170
a0002c0003t0148g0174
a0004c0008t0036g0207
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
 22 HG00323.hp2
HG00423.hp1
HG00621.hp1
others(19): Show 
HG00323.hp2
HG00423.hp1
HG00621.hp1
HG01070.hp2
HG01071.hp1
HG01884.hp1
HG02074.hp2
HG02129.hp1
HG02132.hp1
HG02622.hp2
HG02738.hp2
HG02922.hp2
HG03139.hp2
HG03831.hp1
NA18946.hp1
NA18955.hp1
NA18957.hp2
NA18979.hp2
NA18983.hp1
NA18986.hp1
NA19066.hp2
NA19090.hp2
 intron_variant MODIFIER c.1218+3225C>T
c.1218+3225C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 598570
chr17:598656 C
C
 T
T
 1 a0002c0010t0038g0156
a0002c0010t0038g0156
 1 NA21309.hp1
NA21309.hp1
 intron_variant MODIFIER c.1218+3139G>A
c.1218+3139G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 598656
chr17:598695 G
G
 A
A
 4 a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
others(1): Show 
a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0011t0051g0091
 4 HG01074.hp2
NA18747.hp2
NA18984.hp2
others(1): Show 
HG01074.hp2
NA18747.hp2
NA18984.hp2
NA19064.hp2
 intron_variant MODIFIER c.1218+3100C>T
c.1218+3100C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 598695
chr17:598712 A
A
 C
C
 53 a0001c0002t0017g0225
a0001c0002t0035g0219
a0001c0002t0038g0224
others(50): Show 
a0001c0002t0017g0225
a0001c0002t0035g0219
a0001c0002t0038g0224
a0001c0002t0050g0049
a0001c0002t0086g0221
a0001c0002t0100g0223
a0001c0002t0109g0222
a0001c0002t0125g0116
a0001c0002t0143g0226
a0001c0002t0149g0202
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0017g0179
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0018g0231
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0085g0184
a0002c0003t0089g0175
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0099g0192
a0002c0003t0104g0208
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0145g0187
a0002c0003t0146g0170
a0002c0003t0148g0174
a0002c0003t0150g0191
a0004c0008t0035g0203
a0004c0008t0036g0207
a0004c0008t0103g0227
a0004c0008t0124g0229
a0004c0008t0133g0232
a0004c0008t0142g0228
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
 53 HG00099.hp1
HG00140.hp1
HG00323.hp2
others(50): Show 
HG00099.hp1
HG00140.hp1
HG00323.hp2
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00621.hp1
HG01070.hp2
HG01071.hp1
HG01099.hp1
HG01167.hp1
HG01346.hp1
HG01516.hp1
HG01928.hp1
HG01981.hp1
HG02040.hp1
HG02056.hp1
HG02074.hp2
HG02083.hp1
HG02129.hp1
HG02132.hp1
HG02145.hp1
HG02280.hp1
HG02293.hp1
HG02300.hp1
HG02738.hp2
HG03491.hp2
HG03831.hp1
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04199.hp1
NA18612.hp1
NA18944.hp2
NA18946.hp1
NA18955.hp1
NA18957.hp2
NA18973.hp2
NA18979.hp2
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA18990.hp2
NA19000.hp1
NA19007.hp2
NA19010.hp1
NA19011.hp1
NA19066.hp1
NA19066.hp2
NA19074.hp1
NA19080.hp2
NA19084.hp2
NA19090.hp2
 intron_variant MODIFIER c.1218+3083T>G
c.1218+3083T>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 598712
chr17:598718 T
T
 C
C
 53 a0001c0002t0017g0225
a0001c0002t0035g0219
a0001c0002t0038g0224
others(50): Show 
a0001c0002t0017g0225
a0001c0002t0035g0219
a0001c0002t0038g0224
a0001c0002t0050g0049
a0001c0002t0086g0221
a0001c0002t0100g0223
a0001c0002t0109g0222
a0001c0002t0125g0116
a0001c0002t0143g0226
a0001c0002t0149g0202
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0017g0179
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0018g0231
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0085g0184
a0002c0003t0089g0175
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0099g0192
a0002c0003t0104g0208
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0145g0187
a0002c0003t0146g0170
a0002c0003t0148g0174
a0002c0003t0150g0191
a0004c0008t0035g0203
a0004c0008t0036g0207
a0004c0008t0103g0227
a0004c0008t0124g0229
a0004c0008t0133g0232
a0004c0008t0142g0228
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
 53 HG00099.hp1
HG00140.hp1
HG00323.hp2
others(50): Show 
HG00099.hp1
HG00140.hp1
HG00323.hp2
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00621.hp1
HG01070.hp2
HG01071.hp1
HG01099.hp1
HG01167.hp1
HG01346.hp1
HG01516.hp1
HG01928.hp1
HG01981.hp1
HG02040.hp1
HG02056.hp1
HG02074.hp2
HG02083.hp1
HG02129.hp1
HG02132.hp1
HG02145.hp1
HG02280.hp1
HG02293.hp1
HG02300.hp1
HG02738.hp2
HG03491.hp2
HG03831.hp1
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04199.hp1
NA18612.hp1
NA18944.hp2
NA18946.hp1
NA18955.hp1
NA18957.hp2
NA18973.hp2
NA18979.hp2
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA18990.hp2
NA19000.hp1
NA19007.hp2
NA19010.hp1
NA19011.hp1
NA19066.hp1
NA19066.hp2
NA19074.hp1
NA19080.hp2
NA19084.hp2
NA19090.hp2
 intron_variant MODIFIER c.1218+3077A>G
c.1218+3077A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 598718
chr17:598722 C
C
 T
T
 11 a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
others(8): Show 
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0016t0052g0099
 11 HG00099.hp2
HG00280.hp2
HG01099.hp2
others(8): Show 
HG00099.hp2
HG00280.hp2
HG01099.hp2
HG01168.hp2
HG01175.hp1
HG01515.hp2
HG01981.hp2
HG03491.hp1
HG03492.hp1
HG03688.hp1
NA18948.hp1
 intron_variant MODIFIER c.1218+3073G>A
c.1218+3073G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 598722
chr17:598723 G
G
 A
A
 1 a0001c0015t0126g0149
a0001c0015t0126g0149
 1 HG02723.hp1
HG02723.hp1
 intron_variant MODIFIER c.1218+3072C>T
c.1218+3072C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 598723
chr17:598727 A
A
 G
G
 53 a0001c0002t0017g0225
a0001c0002t0035g0219
a0001c0002t0038g0224
others(50): Show 
a0001c0002t0017g0225
a0001c0002t0035g0219
a0001c0002t0038g0224
a0001c0002t0050g0049
a0001c0002t0086g0221
a0001c0002t0100g0223
a0001c0002t0109g0222
a0001c0002t0125g0116
a0001c0002t0143g0226
a0001c0002t0149g0202
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0017g0179
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0018g0231
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0085g0184
a0002c0003t0089g0175
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0099g0192
a0002c0003t0104g0208
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0145g0187
a0002c0003t0146g0170
a0002c0003t0148g0174
a0002c0003t0150g0191
a0004c0008t0035g0203
a0004c0008t0036g0207
a0004c0008t0103g0227
a0004c0008t0124g0229
a0004c0008t0133g0232
a0004c0008t0142g0228
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
 53 HG00099.hp1
HG00140.hp1
HG00323.hp2
others(50): Show 
HG00099.hp1
HG00140.hp1
HG00323.hp2
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00621.hp1
HG01070.hp2
HG01071.hp1
HG01099.hp1
HG01167.hp1
HG01346.hp1
HG01516.hp1
HG01928.hp1
HG01981.hp1
HG02040.hp1
HG02056.hp1
HG02074.hp2
HG02083.hp1
HG02129.hp1
HG02132.hp1
HG02145.hp1
HG02280.hp1
HG02293.hp1
HG02300.hp1
HG02738.hp2
HG03491.hp2
HG03831.hp1
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04199.hp1
NA18612.hp1
NA18944.hp2
NA18946.hp1
NA18955.hp1
NA18957.hp2
NA18973.hp2
NA18979.hp2
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA18990.hp2
NA19000.hp1
NA19007.hp2
NA19010.hp1
NA19011.hp1
NA19066.hp1
NA19066.hp2
NA19074.hp1
NA19080.hp2
NA19084.hp2
NA19090.hp2
 intron_variant MODIFIER c.1218+3068T>C
c.1218+3068T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 598727
chr17:598754 C
C
 T
T
 52 a0001c0002t0017g0225
a0001c0002t0035g0219
a0001c0002t0050g0049
others(49): Show 
a0001c0002t0017g0225
a0001c0002t0035g0219
a0001c0002t0050g0049
a0001c0002t0086g0221
a0001c0002t0100g0223
a0001c0002t0109g0222
a0001c0002t0125g0116
a0001c0002t0143g0226
a0001c0002t0149g0202
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0017g0179
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0018g0231
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0085g0184
a0002c0003t0089g0175
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0099g0192
a0002c0003t0104g0208
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0145g0187
a0002c0003t0146g0170
a0002c0003t0148g0174
a0002c0003t0150g0191
a0004c0008t0035g0203
a0004c0008t0036g0207
a0004c0008t0103g0227
a0004c0008t0124g0229
a0004c0008t0133g0232
a0004c0008t0142g0228
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
 52 HG00099.hp1
HG00140.hp1
HG00323.hp2
others(49): Show 
HG00099.hp1
HG00140.hp1
HG00323.hp2
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00621.hp1
HG01070.hp2
HG01071.hp1
HG01099.hp1
HG01167.hp1
HG01516.hp1
HG01928.hp1
HG01981.hp1
HG02040.hp1
HG02056.hp1
HG02074.hp2
HG02083.hp1
HG02129.hp1
HG02132.hp1
HG02145.hp1
HG02280.hp1
HG02293.hp1
HG02300.hp1
HG02738.hp2
HG03491.hp2
HG03831.hp1
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04199.hp1
NA18612.hp1
NA18944.hp2
NA18946.hp1
NA18955.hp1
NA18957.hp2
NA18973.hp2
NA18979.hp2
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA18990.hp2
NA19000.hp1
NA19007.hp2
NA19010.hp1
NA19011.hp1
NA19066.hp1
NA19066.hp2
NA19074.hp1
NA19080.hp2
NA19084.hp2
NA19090.hp2
 intron_variant MODIFIER c.1218+3041G>A
c.1218+3041G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 598754
chr17:598758 C
C
 T
T
 52 a0001c0002t0017g0225
a0001c0002t0035g0219
a0001c0002t0050g0049
others(49): Show 
a0001c0002t0017g0225
a0001c0002t0035g0219
a0001c0002t0050g0049
a0001c0002t0086g0221
a0001c0002t0100g0223
a0001c0002t0109g0222
a0001c0002t0125g0116
a0001c0002t0143g0226
a0001c0002t0149g0202
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0017g0179
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0018g0231
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0085g0184
a0002c0003t0089g0175
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0099g0192
a0002c0003t0104g0208
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0145g0187
a0002c0003t0146g0170
a0002c0003t0148g0174
a0002c0003t0150g0191
a0004c0008t0035g0203
a0004c0008t0036g0207
a0004c0008t0103g0227
a0004c0008t0124g0229
a0004c0008t0133g0232
a0004c0008t0142g0228
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
 52 HG00099.hp1
HG00140.hp1
HG00323.hp2
others(49): Show 
HG00099.hp1
HG00140.hp1
HG00323.hp2
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00621.hp1
HG01070.hp2
HG01071.hp1
HG01099.hp1
HG01167.hp1
HG01516.hp1
HG01928.hp1
HG01981.hp1
HG02040.hp1
HG02056.hp1
HG02074.hp2
HG02083.hp1
HG02129.hp1
HG02132.hp1
HG02145.hp1
HG02280.hp1
HG02293.hp1
HG02300.hp1
HG02738.hp2
HG03491.hp2
HG03831.hp1
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04199.hp1
NA18612.hp1
NA18944.hp2
NA18946.hp1
NA18955.hp1
NA18957.hp2
NA18973.hp2
NA18979.hp2
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA18990.hp2
NA19000.hp1
NA19007.hp2
NA19010.hp1
NA19011.hp1
NA19066.hp1
NA19066.hp2
NA19074.hp1
NA19080.hp2
NA19084.hp2
NA19090.hp2
 intron_variant MODIFIER c.1218+3037G>A
c.1218+3037G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 598758
chr17:598770 G
G
 A
A
 52 a0001c0002t0017g0225
a0001c0002t0035g0219
a0001c0002t0050g0049
others(49): Show 
a0001c0002t0017g0225
a0001c0002t0035g0219
a0001c0002t0050g0049
a0001c0002t0086g0221
a0001c0002t0100g0223
a0001c0002t0109g0222
a0001c0002t0125g0116
a0001c0002t0143g0226
a0001c0002t0149g0202
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0017g0179
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0018g0231
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0085g0184
a0002c0003t0089g0175
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0099g0192
a0002c0003t0104g0208
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0145g0187
a0002c0003t0146g0170
a0002c0003t0148g0174
a0002c0003t0150g0191
a0004c0008t0035g0203
a0004c0008t0036g0207
a0004c0008t0103g0227
a0004c0008t0124g0229
a0004c0008t0133g0232
a0004c0008t0142g0228
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
 52 HG00099.hp1
HG00140.hp1
HG00323.hp2
others(49): Show 
HG00099.hp1
HG00140.hp1
HG00323.hp2
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00621.hp1
HG01070.hp2
HG01071.hp1
HG01099.hp1
HG01167.hp1
HG01516.hp1
HG01928.hp1
HG01981.hp1
HG02040.hp1
HG02056.hp1
HG02074.hp2
HG02083.hp1
HG02129.hp1
HG02132.hp1
HG02145.hp1
HG02280.hp1
HG02293.hp1
HG02300.hp1
HG02738.hp2
HG03491.hp2
HG03831.hp1
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04199.hp1
NA18612.hp1
NA18944.hp2
NA18946.hp1
NA18955.hp1
NA18957.hp2
NA18973.hp2
NA18979.hp2
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA18990.hp2
NA19000.hp1
NA19007.hp2
NA19010.hp1
NA19011.hp1
NA19066.hp1
NA19066.hp2
NA19074.hp1
NA19080.hp2
NA19084.hp2
NA19090.hp2
 intron_variant MODIFIER c.1218+3025C>T
c.1218+3025C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 598770
chr17:598780 A
A
 G
G
 52 a0001c0002t0017g0225
a0001c0002t0035g0219
a0001c0002t0050g0049
others(49): Show 
a0001c0002t0017g0225
a0001c0002t0035g0219
a0001c0002t0050g0049
a0001c0002t0086g0221
a0001c0002t0100g0223
a0001c0002t0109g0222
a0001c0002t0125g0116
a0001c0002t0143g0226
a0001c0002t0149g0202
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0017g0179
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0018g0231
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0085g0184
a0002c0003t0089g0175
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0099g0192
a0002c0003t0104g0208
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0145g0187
a0002c0003t0146g0170
a0002c0003t0148g0174
a0002c0003t0150g0191
a0004c0008t0035g0203
a0004c0008t0036g0207
a0004c0008t0103g0227
a0004c0008t0124g0229
a0004c0008t0133g0232
a0004c0008t0142g0228
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
 52 HG00099.hp1
HG00140.hp1
HG00323.hp2
others(49): Show 
HG00099.hp1
HG00140.hp1
HG00323.hp2
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00621.hp1
HG01070.hp2
HG01071.hp1
HG01099.hp1
HG01167.hp1
HG01516.hp1
HG01928.hp1
HG01981.hp1
HG02040.hp1
HG02056.hp1
HG02074.hp2
HG02083.hp1
HG02129.hp1
HG02132.hp1
HG02145.hp1
HG02280.hp1
HG02293.hp1
HG02300.hp1
HG02738.hp2
HG03491.hp2
HG03831.hp1
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04199.hp1
NA18612.hp1
NA18944.hp2
NA18946.hp1
NA18955.hp1
NA18957.hp2
NA18973.hp2
NA18979.hp2
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA18990.hp2
NA19000.hp1
NA19007.hp2
NA19010.hp1
NA19011.hp1
NA19066.hp1
NA19066.hp2
NA19074.hp1
NA19080.hp2
NA19084.hp2
NA19090.hp2
 intron_variant MODIFIER c.1218+3015T>C
c.1218+3015T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 598780
chr17:598793 C
C
 G
G
 52 a0001c0002t0017g0225
a0001c0002t0035g0219
a0001c0002t0050g0049
others(49): Show 
a0001c0002t0017g0225
a0001c0002t0035g0219
a0001c0002t0050g0049
a0001c0002t0086g0221
a0001c0002t0100g0223
a0001c0002t0109g0222
a0001c0002t0125g0116
a0001c0002t0143g0226
a0001c0002t0149g0202
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0017g0179
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0018g0231
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0085g0184
a0002c0003t0089g0175
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0099g0192
a0002c0003t0104g0208
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0145g0187
a0002c0003t0146g0170
a0002c0003t0148g0174
a0002c0003t0150g0191
a0004c0008t0035g0203
a0004c0008t0036g0207
a0004c0008t0103g0227
a0004c0008t0124g0229
a0004c0008t0133g0232
a0004c0008t0142g0228
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
 52 HG00099.hp1
HG00140.hp1
HG00323.hp2
others(49): Show 
HG00099.hp1
HG00140.hp1
HG00323.hp2
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00621.hp1
HG01070.hp2
HG01071.hp1
HG01099.hp1
HG01167.hp1
HG01516.hp1
HG01928.hp1
HG01981.hp1
HG02040.hp1
HG02056.hp1
HG02074.hp2
HG02083.hp1
HG02129.hp1
HG02132.hp1
HG02145.hp1
HG02280.hp1
HG02293.hp1
HG02300.hp1
HG02738.hp2
HG03491.hp2
HG03831.hp1
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04199.hp1
NA18612.hp1
NA18944.hp2
NA18946.hp1
NA18955.hp1
NA18957.hp2
NA18973.hp2
NA18979.hp2
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA18990.hp2
NA19000.hp1
NA19007.hp2
NA19010.hp1
NA19011.hp1
NA19066.hp1
NA19066.hp2
NA19074.hp1
NA19080.hp2
NA19084.hp2
NA19090.hp2
 intron_variant MODIFIER c.1218+3002G>C
c.1218+3002G>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 598793
chr17:598798 T
T
 C
C
 52 a0001c0002t0017g0225
a0001c0002t0035g0219
a0001c0002t0050g0049
others(49): Show 
a0001c0002t0017g0225
a0001c0002t0035g0219
a0001c0002t0050g0049
a0001c0002t0086g0221
a0001c0002t0100g0223
a0001c0002t0109g0222
a0001c0002t0125g0116
a0001c0002t0143g0226
a0001c0002t0149g0202
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0017g0179
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0018g0231
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0085g0184
a0002c0003t0089g0175
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0099g0192
a0002c0003t0104g0208
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0145g0187
a0002c0003t0146g0170
a0002c0003t0148g0174
a0002c0003t0150g0191
a0004c0008t0035g0203
a0004c0008t0036g0207
a0004c0008t0103g0227
a0004c0008t0124g0229
a0004c0008t0133g0232
a0004c0008t0142g0228
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
 52 HG00099.hp1
HG00140.hp1
HG00323.hp2
others(49): Show 
HG00099.hp1
HG00140.hp1
HG00323.hp2
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00621.hp1
HG01070.hp2
HG01071.hp1
HG01099.hp1
HG01167.hp1
HG01516.hp1
HG01928.hp1
HG01981.hp1
HG02040.hp1
HG02056.hp1
HG02074.hp2
HG02083.hp1
HG02129.hp1
HG02132.hp1
HG02145.hp1
HG02280.hp1
HG02293.hp1
HG02300.hp1
HG02738.hp2
HG03491.hp2
HG03831.hp1
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04199.hp1
NA18612.hp1
NA18944.hp2
NA18946.hp1
NA18955.hp1
NA18957.hp2
NA18973.hp2
NA18979.hp2
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA18990.hp2
NA19000.hp1
NA19007.hp2
NA19010.hp1
NA19011.hp1
NA19066.hp1
NA19066.hp2
NA19074.hp1
NA19080.hp2
NA19084.hp2
NA19090.hp2
 intron_variant MODIFIER c.1218+2997A>G
c.1218+2997A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 598798
chr17:598816 T
T
 TCCGGGAG
others(178): Show 
TCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCAGGCCAGCCACCCCG
TCCGGGAGGGAGGTGGGGGGGTCAGCCCCATGCCCGGCCAGCCGCCCCGT
CCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCACCCCATC
CGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTA
 1 a0001c0002t0149g0202
a0001c0002t0149g0202
 1 HG03942.hp2
HG03942.hp2
 intron_variant MODIFIER c.1218+2978_1218+297
others(189): Show 
c.1218+2978_1218+2979insTAGGGGCGGCCGGGCAGAGGCGCCCC
TCACCTCCCGGATGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCACC
TCCCTCCCGGACGGGGCGGCTGGCCGGGCATGGGGCTGACCCCCCCACCT
CCCTCCCGGACGGGGTGGCTGGCCTGGCGGGGGGCTGACCCCCCCCACCT
CCCTCCCGG
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 598816
chr17:598816 T
T
 TCCGGGAG
others(128): Show 
TCCGGGAGGGAGGTGGGGGGGTCAGCCCCATGCCCGGCCAGCCGCCCCGT
CCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCACCCCATC
CGGGAGGTGAGGGGCGCCTCTGCCCAGCCGCCCCTA
 1 a0001c0002t0143g0226
a0001c0002t0143g0226
 1 HG00140.hp1
HG00140.hp1
 intron_variant MODIFIER c.1218+2978_1218+297
others(139): Show 
c.1218+2978_1218+2979insTAGGGGCGGCTGGGCAGAGGCGCCCC
TCACCTCCCGGATGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCACC
TCCCTCCCGGACGGGGCGGCTGGCCGGGCATGGGGCTGACCCCCCCACCT
CCCTCCCGG
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 598816
chr17:598816 T
T
 TCCGGGAG
others(178): Show 
TCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCAGGCCAGCCACCCCGT
CCGGGAGGGAGGTGGGGGGGGTCAGCCCCATGCCCGGCCAGCCGCCCCGT
CCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCACCCCATC
CGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTA
 1 a0002c0003t0091g0209
a0002c0003t0091g0209
 1 HG02300.hp1
HG02300.hp1
 intron_variant MODIFIER c.1218+2978_1218+297
others(189): Show 
c.1218+2978_1218+2979insTAGGGGCGGCCGGGCAGAGGCGCCCC
TCACCTCCCGGATGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCACC
TCCCTCCCGGACGGGGCGGCTGGCCGGGCATGGGGCTGACCCCCCCCACC
TCCCTCCCGGACGGGGTGGCTGGCCTGGCGGGGGGCTGACCCCCCCACCT
CCCTCCCGG
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 598816
chr17:598816 T
T
 TCCGGGAG
others(178): Show 
TCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCAGGCCAGCCACCCCGT
CCGGGAGGGAGGTGGGGGGGTCAGCCCCATGCCCGGCCAGCCGCCCCGTC
CGGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCACCCCATC
CGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTA
 1 a0002c0003t0009g0188
a0002c0003t0009g0188
 1 NA19080.hp2
NA19080.hp2
 intron_variant MODIFIER c.1218+2978_1218+297
others(189): Show 
c.1218+2978_1218+2979insTAGGGGCGGCCGGGCAGAGGCGCCCC
TCACCTCCCGGATGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCCAC
CTCCCTCCCGGACGGGGCGGCTGGCCGGGCATGGGGCTGACCCCCCCACC
TCCCTCCCGGACGGGGTGGCTGGCCTGGCGGGGGGCTGACCCCCCCACCT
CCCTCCCGG
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 598816
chr17:598816 T
T
 TCCGGGAG
others(177): Show 
TCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCAGGCCAGCCACCCCGT
CCGGGAGGGAGGTGGGGGGGTCAGCCCCATGCCCGGCCAGCCGCCCCGTC
CGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCACCCCATCC
GGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTA
 46 a0001c0002t0017g0225
a0001c0002t0035g0219
a0001c0002t0050g0049
others(43): Show 
a0001c0002t0017g0225
a0001c0002t0035g0219
a0001c0002t0050g0049
a0001c0002t0086g0221
a0001c0002t0100g0223
a0001c0002t0109g0222
a0001c0002t0125g0116
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0218
a0002c0003t0017g0179
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0085g0184
a0002c0003t0089g0175
a0002c0003t0090g0171
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0099g0192
a0002c0003t0104g0208
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0145g0187
a0002c0003t0146g0170
a0002c0003t0148g0174
a0002c0003t0150g0191
a0004c0008t0035g0203
a0004c0008t0036g0207
a0004c0008t0103g0227
a0004c0008t0124g0229
a0004c0008t0133g0232
a0004c0008t0142g0228
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
 46 HG00099.hp1
HG00323.hp2
HG00423.hp1
others(43): Show 
HG00099.hp1
HG00323.hp2
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00621.hp1
HG01070.hp2
HG01071.hp1
HG01099.hp1
HG01167.hp1
HG01516.hp1
HG01928.hp1
HG01981.hp1
HG02040.hp1
HG02056.hp1
HG02074.hp2
HG02083.hp1
HG02129.hp1
HG02132.hp1
HG02145.hp1
HG02280.hp1
HG02293.hp1
HG03491.hp2
HG03831.hp1
HG04184.hp1
HG04199.hp1
NA18612.hp1
NA18944.hp2
NA18946.hp1
NA18955.hp1
NA18957.hp2
NA18973.hp2
NA18979.hp2
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA18990.hp2
NA19000.hp1
NA19007.hp2
NA19010.hp1
NA19011.hp1
NA19066.hp1
NA19066.hp2
NA19074.hp1
NA19084.hp2
NA19090.hp2
 intron_variant MODIFIER c.1218+2978_1218+297
others(188): Show 
c.1218+2978_1218+2979insTAGGGGCGGCCGGGCAGAGGCGCCCC
TCACCTCCCGGATGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCACC
TCCCTCCCGGACGGGGCGGCTGGCCGGGCATGGGGCTGACCCCCCCACCT
CCCTCCCGGACGGGGTGGCTGGCCTGGCGGGGGGCTGACCCCCCCACCTC
CCTCCCGG
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 598816
chr17:598818 T
T
 C
C
 2 a0002c0003t0018g0231
a0002c0003t0144g0215
a0002c0003t0018g0231
a0002c0003t0144g0215
 2 HG02738.hp2
HG03942.hp1
HG02738.hp2
HG03942.hp1
 intron_variant MODIFIER c.1218+2977A>G
c.1218+2977A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 598818
chr17:598821 GA
GA
 G
G
 2 a0002c0003t0018g0231
a0002c0003t0144g0215
a0002c0003t0018g0231
a0002c0003t0144g0215
 2 HG02738.hp2
HG03942.hp1
HG02738.hp2
HG03942.hp1
 intron_variant MODIFIER c.1218+2973delT
c.1218+2973delT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 598821
chr17:598825 T
T
 G
G
 2 a0002c0003t0018g0231
a0002c0003t0144g0215
a0002c0003t0018g0231
a0002c0003t0144g0215
 2 HG02738.hp2
HG03942.hp1
HG02738.hp2
HG03942.hp1
 intron_variant MODIFIER c.1218+2970A>C
c.1218+2970A>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 598825
chr17:598830 A
A
 T
T
 2 a0002c0003t0018g0231
a0002c0003t0144g0215
a0002c0003t0018g0231
a0002c0003t0144g0215
 2 HG02738.hp2
HG03942.hp1
HG02738.hp2
HG03942.hp1
 intron_variant MODIFIER c.1218+2965T>A
c.1218+2965T>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 598830
chr17:598832 C
C
 G
G
 2 a0002c0003t0018g0231
a0002c0003t0144g0215
a0002c0003t0018g0231
a0002c0003t0144g0215
 2 HG02738.hp2
HG03942.hp1
HG02738.hp2
HG03942.hp1
 intron_variant MODIFIER c.1218+2963G>C
c.1218+2963G>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 598832
chr17:598833 G
G
 C
C
 50 a0001c0002t0017g0225
a0001c0002t0035g0219
a0001c0002t0050g0049
others(47): Show 
a0001c0002t0017g0225
a0001c0002t0035g0219
a0001c0002t0050g0049
a0001c0002t0086g0221
a0001c0002t0100g0223
a0001c0002t0109g0222
a0001c0002t0125g0116
a0001c0002t0143g0226
a0001c0002t0149g0202
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0017g0179
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0085g0184
a0002c0003t0089g0175
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0099g0192
a0002c0003t0104g0208
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0145g0187
a0002c0003t0146g0170
a0002c0003t0148g0174
a0002c0003t0150g0191
a0004c0008t0035g0203
a0004c0008t0036g0207
a0004c0008t0103g0227
a0004c0008t0124g0229
a0004c0008t0133g0232
a0004c0008t0142g0228
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
 50 HG00099.hp1
HG00140.hp1
HG00323.hp2
others(47): Show 
HG00099.hp1
HG00140.hp1
HG00323.hp2
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00621.hp1
HG01070.hp2
HG01071.hp1
HG01099.hp1
HG01167.hp1
HG01516.hp1
HG01928.hp1
HG01981.hp1
HG02040.hp1
HG02056.hp1
HG02074.hp2
HG02083.hp1
HG02129.hp1
HG02132.hp1
HG02145.hp1
HG02280.hp1
HG02293.hp1
HG02300.hp1
HG03491.hp2
HG03831.hp1
HG03942.hp2
HG04184.hp1
HG04199.hp1
NA18612.hp1
NA18944.hp2
NA18946.hp1
NA18955.hp1
NA18957.hp2
NA18973.hp2
NA18979.hp2
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA18990.hp2
NA19000.hp1
NA19007.hp2
NA19010.hp1
NA19011.hp1
NA19066.hp1
NA19066.hp2
NA19074.hp1
NA19080.hp2
NA19084.hp2
NA19090.hp2
 intron_variant MODIFIER c.1218+2962C>G
c.1218+2962C>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 598833
chr17:598834 T
T
 C
C
 52 a0001c0002t0017g0225
a0001c0002t0035g0219
a0001c0002t0050g0049
others(49): Show 
a0001c0002t0017g0225
a0001c0002t0035g0219
a0001c0002t0050g0049
a0001c0002t0086g0221
a0001c0002t0100g0223
a0001c0002t0109g0222
a0001c0002t0125g0116
a0001c0002t0143g0226
a0001c0002t0149g0202
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0017g0179
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0018g0231
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0085g0184
a0002c0003t0089g0175
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0099g0192
a0002c0003t0104g0208
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0145g0187
a0002c0003t0146g0170
a0002c0003t0148g0174
a0002c0003t0150g0191
a0004c0008t0035g0203
a0004c0008t0036g0207
a0004c0008t0103g0227
a0004c0008t0124g0229
a0004c0008t0133g0232
a0004c0008t0142g0228
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
 52 HG00099.hp1
HG00140.hp1
HG00323.hp2
others(49): Show 
HG00099.hp1
HG00140.hp1
HG00323.hp2
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00621.hp1
HG01070.hp2
HG01071.hp1
HG01099.hp1
HG01167.hp1
HG01516.hp1
HG01928.hp1
HG01981.hp1
HG02040.hp1
HG02056.hp1
HG02074.hp2
HG02083.hp1
HG02129.hp1
HG02132.hp1
HG02145.hp1
HG02280.hp1
HG02293.hp1
HG02300.hp1
HG02738.hp2
HG03491.hp2
HG03831.hp1
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04199.hp1
NA18612.hp1
NA18944.hp2
NA18946.hp1
NA18955.hp1
NA18957.hp2
NA18973.hp2
NA18979.hp2
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA18990.hp2
NA19000.hp1
NA19007.hp2
NA19010.hp1
NA19011.hp1
NA19066.hp1
NA19066.hp2
NA19074.hp1
NA19080.hp2
NA19084.hp2
NA19090.hp2
 intron_variant MODIFIER c.1218+2961A>G
c.1218+2961A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 598834
chr17:598836 T
T
 C
C
 2 a0002c0003t0018g0231
a0002c0003t0144g0215
a0002c0003t0018g0231
a0002c0003t0144g0215
 2 HG02738.hp2
HG03942.hp1
HG02738.hp2
HG03942.hp1
 intron_variant MODIFIER c.1218+2959A>G
c.1218+2959A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 598836
chr17:598838 C
C
 T
T
 50 a0001c0002t0017g0225
a0001c0002t0035g0219
a0001c0002t0050g0049
others(47): Show 
a0001c0002t0017g0225
a0001c0002t0035g0219
a0001c0002t0050g0049
a0001c0002t0086g0221
a0001c0002t0100g0223
a0001c0002t0109g0222
a0001c0002t0125g0116
a0001c0002t0143g0226
a0001c0002t0149g0202
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0017g0179
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0085g0184
a0002c0003t0089g0175
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0099g0192
a0002c0003t0104g0208
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0145g0187
a0002c0003t0146g0170
a0002c0003t0148g0174
a0002c0003t0150g0191
a0004c0008t0035g0203
a0004c0008t0036g0207
a0004c0008t0103g0227
a0004c0008t0124g0229
a0004c0008t0133g0232
a0004c0008t0142g0228
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
 50 HG00099.hp1
HG00140.hp1
HG00323.hp2
others(47): Show 
HG00099.hp1
HG00140.hp1
HG00323.hp2
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00621.hp1
HG01070.hp2
HG01071.hp1
HG01099.hp1
HG01167.hp1
HG01516.hp1
HG01928.hp1
HG01981.hp1
HG02040.hp1
HG02056.hp1
HG02074.hp2
HG02083.hp1
HG02129.hp1
HG02132.hp1
HG02145.hp1
HG02280.hp1
HG02293.hp1
HG02300.hp1
HG03491.hp2
HG03831.hp1
HG03942.hp2
HG04184.hp1
HG04199.hp1
NA18612.hp1
NA18944.hp2
NA18946.hp1
NA18955.hp1
NA18957.hp2
NA18973.hp2
NA18979.hp2
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA18990.hp2
NA19000.hp1
NA19007.hp2
NA19010.hp1
NA19011.hp1
NA19066.hp1
NA19066.hp2
NA19074.hp1
NA19080.hp2
NA19084.hp2
NA19090.hp2
 intron_variant MODIFIER c.1218+2957G>A
c.1218+2957G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 598838
chr17:598842 C
C
 A
A
 2 a0002c0003t0018g0231
a0002c0003t0144g0215
a0002c0003t0018g0231
a0002c0003t0144g0215
 2 HG02738.hp2
HG03942.hp1
HG02738.hp2
HG03942.hp1
 intron_variant MODIFIER c.1218+2953G>T
c.1218+2953G>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 598842
chr17:598842 C
C
 CA
CA
 50 a0001c0002t0017g0225
a0001c0002t0035g0219
a0001c0002t0050g0049
others(47): Show 
a0001c0002t0017g0225
a0001c0002t0035g0219
a0001c0002t0050g0049
a0001c0002t0086g0221
a0001c0002t0100g0223
a0001c0002t0109g0222
a0001c0002t0125g0116
a0001c0002t0143g0226
a0001c0002t0149g0202
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0017g0179
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0085g0184
a0002c0003t0089g0175
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0099g0192
a0002c0003t0104g0208
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0145g0187
a0002c0003t0146g0170
a0002c0003t0148g0174
a0002c0003t0150g0191
a0004c0008t0035g0203
a0004c0008t0036g0207
a0004c0008t0103g0227
a0004c0008t0124g0229
a0004c0008t0133g0232
a0004c0008t0142g0228
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
 50 HG00099.hp1
HG00140.hp1
HG00323.hp2
others(47): Show 
HG00099.hp1
HG00140.hp1
HG00323.hp2
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00621.hp1
HG01070.hp2
HG01071.hp1
HG01099.hp1
HG01167.hp1
HG01516.hp1
HG01928.hp1
HG01981.hp1
HG02040.hp1
HG02056.hp1
HG02074.hp2
HG02083.hp1
HG02129.hp1
HG02132.hp1
HG02145.hp1
HG02280.hp1
HG02293.hp1
HG02300.hp1
HG03491.hp2
HG03831.hp1
HG03942.hp2
HG04184.hp1
HG04199.hp1
NA18612.hp1
NA18944.hp2
NA18946.hp1
NA18955.hp1
NA18957.hp2
NA18973.hp2
NA18979.hp2
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA18990.hp2
NA19000.hp1
NA19007.hp2
NA19010.hp1
NA19011.hp1
NA19066.hp1
NA19066.hp2
NA19074.hp1
NA19080.hp2
NA19084.hp2
NA19090.hp2
 intron_variant MODIFIER c.1218+2952_1218+295
others(5): Show 
c.1218+2952_1218+2953insT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 598842
chr17:598844 G
G
 C
C
 50 a0001c0002t0017g0225
a0001c0002t0035g0219
a0001c0002t0050g0049
others(47): Show 
a0001c0002t0017g0225
a0001c0002t0035g0219
a0001c0002t0050g0049
a0001c0002t0086g0221
a0001c0002t0100g0223
a0001c0002t0109g0222
a0001c0002t0125g0116
a0001c0002t0143g0226
a0001c0002t0149g0202
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0017g0179
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0085g0184
a0002c0003t0089g0175
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0099g0192
a0002c0003t0104g0208
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0145g0187
a0002c0003t0146g0170
a0002c0003t0148g0174
a0002c0003t0150g0191
a0004c0008t0035g0203
a0004c0008t0036g0207
a0004c0008t0103g0227
a0004c0008t0124g0229
a0004c0008t0133g0232
a0004c0008t0142g0228
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
 50 HG00099.hp1
HG00140.hp1
HG00323.hp2
others(47): Show 
HG00099.hp1
HG00140.hp1
HG00323.hp2
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00621.hp1
HG01070.hp2
HG01071.hp1
HG01099.hp1
HG01167.hp1
HG01516.hp1
HG01928.hp1
HG01981.hp1
HG02040.hp1
HG02056.hp1
HG02074.hp2
HG02083.hp1
HG02129.hp1
HG02132.hp1
HG02145.hp1
HG02280.hp1
HG02293.hp1
HG02300.hp1
HG03491.hp2
HG03831.hp1
HG03942.hp2
HG04184.hp1
HG04199.hp1
NA18612.hp1
NA18944.hp2
NA18946.hp1
NA18955.hp1
NA18957.hp2
NA18973.hp2
NA18979.hp2
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA18990.hp2
NA19000.hp1
NA19007.hp2
NA19010.hp1
NA19011.hp1
NA19066.hp1
NA19066.hp2
NA19074.hp1
NA19080.hp2
NA19084.hp2
NA19090.hp2
 intron_variant MODIFIER c.1218+2951C>G
c.1218+2951C>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 598844
chr17:598850 A
A
 G
G
 50 a0001c0002t0017g0225
a0001c0002t0035g0219
a0001c0002t0050g0049
others(47): Show 
a0001c0002t0017g0225
a0001c0002t0035g0219
a0001c0002t0050g0049
a0001c0002t0086g0221
a0001c0002t0100g0223
a0001c0002t0109g0222
a0001c0002t0125g0116
a0001c0002t0143g0226
a0001c0002t0149g0202
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0017g0179
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0085g0184
a0002c0003t0089g0175
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0099g0192
a0002c0003t0104g0208
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0145g0187
a0002c0003t0146g0170
a0002c0003t0148g0174
a0002c0003t0150g0191
a0004c0008t0035g0203
a0004c0008t0036g0207
a0004c0008t0103g0227
a0004c0008t0124g0229
a0004c0008t0133g0232
a0004c0008t0142g0228
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
 50 HG00099.hp1
HG00140.hp1
HG00323.hp2
others(47): Show 
HG00099.hp1
HG00140.hp1
HG00323.hp2
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00621.hp1
HG01070.hp2
HG01071.hp1
HG01099.hp1
HG01167.hp1
HG01516.hp1
HG01928.hp1
HG01981.hp1
HG02040.hp1
HG02056.hp1
HG02074.hp2
HG02083.hp1
HG02129.hp1
HG02132.hp1
HG02145.hp1
HG02280.hp1
HG02293.hp1
HG02300.hp1
HG03491.hp2
HG03831.hp1
HG03942.hp2
HG04184.hp1
HG04199.hp1
NA18612.hp1
NA18944.hp2
NA18946.hp1
NA18955.hp1
NA18957.hp2
NA18973.hp2
NA18979.hp2
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA18990.hp2
NA19000.hp1
NA19007.hp2
NA19010.hp1
NA19011.hp1
NA19066.hp1
NA19066.hp2
NA19074.hp1
NA19080.hp2
NA19084.hp2
NA19090.hp2
 intron_variant MODIFIER c.1218+2945T>C
c.1218+2945T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 598850
chr17:598858 C
C
 T
T
 3 a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0134g0154
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0134g0154
 3 HG01891.hp2
NA20129.hp2
NA20300.hp1
HG01891.hp2
NA20129.hp2
NA20300.hp1
 intron_variant MODIFIER c.1218+2937G>A
c.1218+2937G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 598858
chr17:598870 G
G
 GGGGGGGG
others(414): Show 
GGGGGGGGTCAGCCCCCCACCAGGCCAGCCACCCCGTCCGGGAGGGAGGT
GGGGGGGTCAGCCCCATGCCCGGCCAGCCGCCCCGTCCCGGAGGGAGTTG
GGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGG
GGGGGTCAGCCCCCCACCCGGCCAGCCGCCCCATCCGGGAGGTGAGGGGC
GCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCAGC
CAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCTGCCCGGCC
AGCCGCCCCGTCTTGGAGGGAGGTGGGGGGGTCAGCCCCACGCCCGGCCA
GGCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCTCGCCCAGCCAG
CCGCCCCGTCCGGGAGGGAGGT
 1 a0001c0007t0023g0109
a0001c0007t0023g0109
 1 HG01192.hp2
HG01192.hp2
 intron_variant MODIFIER c.1218+2924_1218+292
others(425): Show 
c.1218+2924_1218+2925insACCTCCCTCCCGGACGGGGCGGCTGG
CTGGGCGAGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGCCTGGC
CGGGCGTGGGGCTGACCCCCCCACCTCCCTCCAAGACGGGGCGGCTGGCC
GGGCAGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCTG
GGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCC
CTCACCTCCCGGATGGGGCGGCTGGCCGGGTGGGGGGCTGACCCCCCCAC
CTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCAAC
TCCCTCCGGGACGGGGCGGCTGGCCGGGCATGGGGCTGACCCCCCCACCT
CCCTCCCGGACGGGGTGGCTGGCCTGGTGGGGGGCTGACCCCCCC
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 598870
chr17:598870 G
G
 GGGGGGGG
others(414): Show 
GGGGGGGGTCAGCCCCCCACCAGGCCAGCCACCCCGTCCGGGAGGGAGGT
GGGGGGGTCAGCCCCATGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGTTG
GGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGG
GGGGGTCAGCCCCCCACCCGGCCAGCCGCCCCATCCGGGAGGTGAGGGGC
GCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCAGC
CAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCTGCCCGGCC
AGCCGCCCCGTCTTGGAGGGAGGTGGGGGGGTCAGCCCCACGCCCGGCCA
GGCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCTCGCCCAGCCAG
CCGCCCCGTCCGGGAGGGAGGT
 1 a0001c0001t0102g0220
a0001c0001t0102g0220
 1 HG02572.hp2
HG02572.hp2
 intron_variant MODIFIER c.1218+2924_1218+292
others(425): Show 
c.1218+2924_1218+2925insACCTCCCTCCCGGACGGGGCGGCTGG
CTGGGCGAGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGCCTGGC
CGGGCGTGGGGCTGACCCCCCCACCTCCCTCCAAGACGGGGCGGCTGGCC
GGGCAGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCTG
GGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCC
CTCACCTCCCGGATGGGGCGGCTGGCCGGGTGGGGGGCTGACCCCCCCAC
CTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCAAC
TCCCTCCCGGACGGGGCGGCTGGCCGGGCATGGGGCTGACCCCCCCACCT
CCCTCCCGGACGGGGTGGCTGGCCTGGTGGGGGGCTGACCCCCCC
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 598870
chr17:598870 G
G
 GGGGGGGG
others(316): Show 
GGGGGGGGTCAGCCCCCCGCCAGGCCAGCCACCCCGTCCGGGAGGGAGGT
GGGGGGGTCAGCCCCATGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTG
GGGGGGTCAGCCCCCCGCCCGGCCAGCCACCCCATCCGGGAGGTGAGGGG
CGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCAG
CCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCACGCCCGGC
CAGGCGCCCCGTCCGGGAGGGAGATGGGGGGGTCAGCCCCTCGCCCGGCC
AGCCGCCCCGTCCGGGAGGGAGGT
 1 a0001c0014t0135g0166
a0001c0014t0135g0166
 1 HG02572.hp1
HG02572.hp1
 intron_variant MODIFIER c.1218+2924_1218+292
others(327): Show 
c.1218+2924_1218+2925insACCTCCCTCCCGGACGGGGCGGCTGG
CCGGGCGAGGGGCTGACCCCCCCATCTCCCTCCCGGACGGGGCGCCTGGC
CGGGCGTGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCT
GGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC
CCTCACCTCCCGGATGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCA
CCTCCCTCCCGGACGGGGCGGCTGGCCGGGCATGGGGCTGACCCCCCCAC
CTCCCTCCCGGACGGGGTGGCTGGCCTGGCGGGGGGCTGACCCCCCC
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 598870
chr17:598880 G
G
 GCCCCCCA
others(416): Show 
GCCCCCCACCAGGCCAGCCACCCCGTCCGGGAGGGAGGTGGGGGGGGTCA
GCCCCATGCCCGGCCAGCCGCCCCGTCCCGGAGGGAGTTGGGGGGGTCAG
CCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGC
CCCCCACCCGGCCAGCCGCCCCATCCGGGAGGTGAGGGGCGCCTCTGCCC
GGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCAGCCAGCCGCCCC
GTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCG
TCTTGGAGGGAGGTGGGGGGGTCAGCCCCACGCCCGGCCAGGCGCCCCGT
CCGGGAGGGAGGTGGGGGGGTCAGCCCCTCGCCCAGCCAGCCGCCCCGTC
CGGGAGGGAGGTGGGGGGTCAGCC
 1 a0001c0001t0114g0142
a0001c0001t0114g0142
 1 HG02602.hp2
HG02602.hp2
 intron_variant MODIFIER c.1218+2914_1218+291
others(427): Show 
c.1218+2914_1218+2915insGGCTGACCCCCCACCTCCCTCCCGGA
CGGGGCGGCTGGCTGGGCGAGGGGCTGACCCCCCCACCTCCCTCCCGGAC
GGGGCGCCTGGCCGGGCGTGGGGCTGACCCCCCCACCTCCCTCCAAGACG
GGGCGGCTGGCCGGGCAGGGGGCTGACCCCCCCACCTCCCTCCCGGACGG
GGCGGCTGGCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGG
GCAGAGGCGCCCCTCACCTCCCGGATGGGGCGGCTGGCCGGGTGGGGGGC
TGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCT
GACCCCCCCAACTCCCTCCGGGACGGGGCGGCTGGCCGGGCATGGGGCTG
ACCCCCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCTGGTGGGGGG
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 598880
chr17:598880 G
G
 GCCCCCCA
others(417): Show 
GCCCCCCACCAGGCCAGCCACCCCGTCCGGGAGGGAGGTGGGGGGGTCAG
CCCCATGCCCGGCCAGCCGCCCCGTCCCGGAGGGAGTTGGGGGGGTCAGC
CCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCC
CCCCACCCGGCCAGCCGCCCCATCCGGGAGGTGAGGGGCGCCTCTGCCCG
GCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCAGCCAGCCGCCCCG
TCCGGGAGGGAGGTGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGT
CTTGGAGGGAGGTGGGGGGGGTCAGCCCCACGCCCGGCCAGGCGCCCCGT
CCGGGAGGGAGGTGGGGGGGGTCAGCCCCTCGCCCAGCCAGCCGCCCCGT
CCGGGAGGGAGGTGGGGGGTCAGCC
 2 a0001c0001t0002g0213
a0001c0001t0128g0132
a0001c0001t0002g0213
a0001c0001t0128g0132
 2 HG02056.hp2
HG03688.hp2
HG02056.hp2
HG03688.hp2
 intron_variant MODIFIER c.1218+2914_1218+291
others(428): Show 
c.1218+2914_1218+2915insGGCTGACCCCCCACCTCCCTCCCGGA
CGGGGCGGCTGGCTGGGCGAGGGGCTGACCCCCCCCACCTCCCTCCCGGA
CGGGGCGCCTGGCCGGGCGTGGGGCTGACCCCCCCCACCTCCCTCCAAGA
CGGGGCGGCTGGCCGGGCAGGGGGCTGACCCCCCCACCTCCCTCCCGGAC
GGGGCGGCTGGCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCC
GGGCAGAGGCGCCCCTCACCTCCCGGATGGGGCGGCTGGCCGGGTGGGGG
GCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGG
CTGACCCCCCCAACTCCCTCCGGGACGGGGCGGCTGGCCGGGCATGGGGC
TGACCCCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCTGGTGGGGGG
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 598880
chr17:598880 G
G
 GCCCCCCA
others(416): Show 
GCCCCCCACCAGGCCAGCCACCCCGTCCGGGAGGGAGGTGGGGGGGTCAG
CCCCATGCCCGGCCAGCCGCCCCGTCCCGGAGGGAGTTGGGGGGGTCAGC
CCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCC
CCCCACCCGGCCAGCCGCCCCATCCGGGAGGTGAGGGGCGCCTCTGCCCG
GCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCAGCCAGCCGCCCCG
TCCGGGAGGGAGGTGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGT
CTTGGAGGGAGGTGGGGGGGTCAGCCCCACGCCCGGCCAGGCGCCCCGTC
CGGGAGGGAGGTGGGGGGGGTCAGCCCCTCGCCCAGCCAGCCGCCCCGTC
CGGGAGGGAGGTGGGGGGTCAGCC
 1 a0001c0007t0070g0112
a0001c0007t0070g0112
 1 HG01175.hp2
HG01175.hp2
 intron_variant MODIFIER c.1218+2914_1218+291
others(427): Show 
c.1218+2914_1218+2915insGGCTGACCCCCCACCTCCCTCCCGGA
CGGGGCGGCTGGCTGGGCGAGGGGCTGACCCCCCCCACCTCCCTCCCGGA
CGGGGCGCCTGGCCGGGCGTGGGGCTGACCCCCCCACCTCCCTCCAAGAC
GGGGCGGCTGGCCGGGCAGGGGGCTGACCCCCCCACCTCCCTCCCGGACG
GGGCGGCTGGCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCG
GGCAGAGGCGCCCCTCACCTCCCGGATGGGGCGGCTGGCCGGGTGGGGGG
CTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGC
TGACCCCCCCAACTCCCTCCGGGACGGGGCGGCTGGCCGGGCATGGGGCT
GACCCCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCTGGTGGGGGG
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 598880
chr17:598880 G
G
 GCCCCCCA
others(414): Show 
GCCCCCCACCAGGCCAGCCACCCCGTCCGGGAGGGAGGTGGGGGGGTCAG
CCCCATGCCCGGCCAGCCGCCCCGTCCCGGAGGGAGTTGGGGGGGTCAGC
CCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCC
CCCCACCCGGCCAGCCGCCCCATCCGGGAGGTGAGGGGCGCCTCTGCCCG
GCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCAGCCAGCCGCCCCG
TCCGGGAGGGAGGTGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGT
CTTGGAGGGAGGTGGGGGGGTCAGCCCCACGCCCGGCCAGGCGCCCCGTC
CGGGAGGGAGGTGGGGGGGTCAGCCCCTCGCCCAGCCAGCCGCCCCGTCC
GGGAGGGAGGTGGGGGGTAGCC
 1 a0001c0001t0119g0144
a0001c0001t0119g0144
 1 NA18987.hp2
NA18987.hp2
 intron_variant MODIFIER c.1218+2914_1218+291
others(425): Show 
c.1218+2914_1218+2915insGGCTACCCCCCACCTCCCTCCCGGAC
GGGGCGGCTGGCTGGGCGAGGGGCTGACCCCCCCACCTCCCTCCCGGACG
GGGCGCCTGGCCGGGCGTGGGGCTGACCCCCCCACCTCCCTCCAAGACGG
GGCGGCTGGCCGGGCAGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGG
GCGGCTGGCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGG
CAGAGGCGCCCCTCACCTCCCGGATGGGGCGGCTGGCCGGGTGGGGGGCT
GACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTG
ACCCCCCCAACTCCCTCCGGGACGGGGCGGCTGGCCGGGCATGGGGCTGA
CCCCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCTGGTGGGGGG
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 598880
chr17:598880 G
G
 GCCCCCCA
others(415): Show 
GCCCCCCACCAGGCCAGCCACCCCGTCCGGGAGGGAGGTGGGGGGGTCAG
CCCCATGCCCGGCCAGCCGCCCCGTCCCGGAGGGAGTTGGGGGGGTCAGC
CCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCC
CCCCACCCGGCCAGCCGCCCCATCCGGGAGGTGAGGGGCGCCTCTGCCCG
GCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCAGCCAGCCGCCCCG
TCCGGGAGGGAGGTGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGT
CTTGGAGGGAGGTGGGGGGGTCAGCCCCACGCCCGGCCAGGCGCCCCGTC
CGGGAGGGAGGTGGGGGGGTCAGCCCCTCGCCCAGCCAGCCGCCCCGTCC
GGGAGGGAGGTGGGGGGTCAGCC
 37 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(34): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0034g0126
a0001c0001t0069g0012
a0001c0001t0094g0129
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0110g0127
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0123g0123
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0062g0104
a0006c0012t0129g0140
 37 HG00423.hp2
HG01081.hp2
HG01255.hp2
others(34): Show 
HG00423.hp2
HG01081.hp2
HG01255.hp2
HG01256.hp2
HG01361.hp2
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp2
HG01928.hp2
HG01978.hp2
HG02040.hp2
HG02083.hp2
HG02109.hp2
HG02129.hp2
HG02132.hp2
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG03492.hp2
HG04184.hp2
HG04199.hp2
NA18940.hp2
NA18945.hp2
NA18950.hp1
NA18961.hp1
NA18967.hp2
NA18978.hp2
NA18983.hp2
NA19009.hp2
NA19060.hp2
NA19065.hp2
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19079.hp2
NA19081.hp2
 intron_variant MODIFIER c.1218+2914_1218+291
others(426): Show 
c.1218+2914_1218+2915insGGCTGACCCCCCACCTCCCTCCCGGA
CGGGGCGGCTGGCTGGGCGAGGGGCTGACCCCCCCACCTCCCTCCCGGAC
GGGGCGCCTGGCCGGGCGTGGGGCTGACCCCCCCACCTCCCTCCAAGACG
GGGCGGCTGGCCGGGCAGGGGGCTGACCCCCCCACCTCCCTCCCGGACGG
GGCGGCTGGCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGG
GCAGAGGCGCCCCTCACCTCCCGGATGGGGCGGCTGGCCGGGTGGGGGGC
TGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCT
GACCCCCCCAACTCCCTCCGGGACGGGGCGGCTGGCCGGGCATGGGGCTG
ACCCCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCTGGTGGGGGG
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 598880
chr17:598880 G
G
 GCCCCCCA
others(367): Show 
GCCCCCCACCAGGCCAGCCACCCCGTCCGGGAGGGAGGTGGGGGGGTCAG
CCCCATGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGC
CCCCCACCCGGCCAGCCGCCCCATCCGGGAGGTGAGGGGCGCCTCTGCCC
GGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCAGCCAGCCGCCCC
GTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCG
TCTTGGAGGGAGGTGGGGGGGTCAGCCCCACGCCCGGCCAGGCGCCCCGT
CCGGGAGGGAGGTGGGGGGGGTCAGCCCCTCGCCCAGCCAGCCGCCCCGT
CCGGGAGGGAGGTGGGGGGTCAGCC
 1 a0001c0001t0108g0148
a0001c0001t0108g0148
 1 HG01192.hp1
HG01192.hp1
 intron_variant MODIFIER c.1218+2914_1218+291
others(378): Show 
c.1218+2914_1218+2915insGGCTGACCCCCCACCTCCCTCCCGGA
CGGGGCGGCTGGCTGGGCGAGGGGCTGACCCCCCCCACCTCCCTCCCGGA
CGGGGCGCCTGGCCGGGCGTGGGGCTGACCCCCCCACCTCCCTCCAAGAC
GGGGCGGCTGGCCGGGCAGGGGGCTGACCCCCCCACCTCCCTCCCGGACG
GGGCGGCTGGCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCG
GGCAGAGGCGCCCCTCACCTCCCGGATGGGGCGGCTGGCCGGGTGGGGGG
CTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCATGGGGC
TGACCCCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCTGGTGGGGGG
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 598880
chr17:598880 G
G
 GCCCCCCA
others(415): Show 
GCCCCCCACCAGGCCAGCCACCCCGTCCGGGAGGGAGGTGGGGGGGTCAG
CCCCATGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGTTGGGGGGGTCAGC
CCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCC
CCCCACCCGGCCAGCCGCCCCATCCGGGAGGTGAGGGGCGCCTCTGCCCG
GCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCAGCCAGCCGCCCCG
TCCGGGAGGGAGGTGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGT
CTTGGAGGGAGGTGGGGGGGTCAGCCCCACGCCCGGCCAGGCGCCCCGTC
CGGGAGGGAGGTGGGGGGGTCAGCCCCTCGCCCAGCCAGCCACCCCGTCC
GGGAGGGAGGTGGGGGGTCAGCC
 1 a0002c0010t0038g0156
a0002c0010t0038g0156
 1 NA21309.hp1
NA21309.hp1
 intron_variant MODIFIER c.1218+2914_1218+291
others(426): Show 
c.1218+2914_1218+2915insGGCTGACCCCCCACCTCCCTCCCGGA
CGGGGTGGCTGGCTGGGCGAGGGGCTGACCCCCCCACCTCCCTCCCGGAC
GGGGCGCCTGGCCGGGCGTGGGGCTGACCCCCCCACCTCCCTCCAAGACG
GGGCGGCTGGCCGGGCAGGGGGCTGACCCCCCCACCTCCCTCCCGGACGG
GGCGGCTGGCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGG
GCAGAGGCGCCCCTCACCTCCCGGATGGGGCGGCTGGCCGGGTGGGGGGC
TGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCT
GACCCCCCCAACTCCCTCCCGGACGGGGCGGCTGGCCGGGCATGGGGCTG
ACCCCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCTGGTGGGGGG
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 598880
chr17:598880 G
G
 GCCCCCCA
others(415): Show 
GCCCCCCACCAGGCCAGCCACCCCGTCCGGGAGGGAGGTGGGGGGGTCAG
CCCCATGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGTTGGGGGGGTCAGC
CCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCC
CCCCACCCGGCCAGCCGCCCCATCCGGGAGGTGAGGGGCGCCTCTGCCCG
GCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCAGCCAGCCGCCCCG
TCCGGGAGGGAGGTGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGT
CTTGGAGGGAGGTGGGGGGGTCAGCCCCACGCCCGGCCAGGCGCCCCGTC
CGGGAGGGAGGTGGGGGGGTCAGCCCCTCGCCCAGCCAGCCGCCCCGTCC
GGGAGGGAGGTGGGGGGTCAGCC
 28 a0001c0001t0017g0158
a0001c0001t0028g0196
a0001c0001t0028g0197
others(25): Show 
a0001c0001t0017g0158
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0032g0114
a0001c0001t0032g0204
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0034g0162
a0001c0001t0084g0046
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0097g0199
a0001c0001t0098g0147
a0001c0001t0101g0200
a0001c0001t0105g0201
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0118g0195
a0001c0001t0127g0159
a0001c0001t0134g0154
a0001c0001t0141g0165
a0007c0013t0132g0163
 28 HG00741.hp1
HG01106.hp2
HG01109.hp1
others(25): Show 
HG00741.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01346.hp2
HG01884.hp1
HG01891.hp1
HG01891.hp2
HG02622.hp1
HG02622.hp2
HG02723.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03516.hp1
HG04204.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
 intron_variant MODIFIER c.1218+2914_1218+291
others(426): Show 
c.1218+2914_1218+2915insGGCTGACCCCCCACCTCCCTCCCGGA
CGGGGCGGCTGGCTGGGCGAGGGGCTGACCCCCCCACCTCCCTCCCGGAC
GGGGCGCCTGGCCGGGCGTGGGGCTGACCCCCCCACCTCCCTCCAAGACG
GGGCGGCTGGCCGGGCAGGGGGCTGACCCCCCCACCTCCCTCCCGGACGG
GGCGGCTGGCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGG
GCAGAGGCGCCCCTCACCTCCCGGATGGGGCGGCTGGCCGGGTGGGGGGC
TGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCT
GACCCCCCCAACTCCCTCCCGGACGGGGCGGCTGGCCGGGCATGGGGCTG
ACCCCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCTGGTGGGGGG
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 598880
chr17:598880 G
G
 GCCCCCCA
others(415): Show 
GCCCCCCACCAGGCCAGCCACCCCGTCCGGGAGGGAGGTGGGGGGGTCAG
CCCCATGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGTTGGGGGGGTCAGC
CCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCC
CCCCACCTGGCCAGCCGCCCCATCCGGGAGGTGAGGGGCGCCTCTGCCCG
GCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCAGCCAGCCGCCCCG
TCCGGGAGGGAGGTGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGT
CTTGGAGGGAGGTGGGGGGGTCAGCCCCACGCCCGGCCAGGCGCCCCGTC
CGGGAGGGAGGTGGGGGGGTCAGCCCCTCGCCCAGCCAGCCGCCCCGTCC
GGGAGGGAGGTGGGGGGTCAGCC
 2 a0001c0001t0122g0160
a0001c0001t0138g0161
a0001c0001t0122g0160
a0001c0001t0138g0161
 2 HG01257.hp1
HG01258.hp2
HG01257.hp1
HG01258.hp2
 intron_variant MODIFIER c.1218+2914_1218+291
others(426): Show 
c.1218+2914_1218+2915insGGCTGACCCCCCACCTCCCTCCCGGA
CGGGGCGGCTGGCTGGGCGAGGGGCTGACCCCCCCACCTCCCTCCCGGAC
GGGGCGCCTGGCCGGGCGTGGGGCTGACCCCCCCACCTCCCTCCAAGACG
GGGCGGCTGGCCGGGCAGGGGGCTGACCCCCCCACCTCCCTCCCGGACGG
GGCGGCTGGCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGG
GCAGAGGCGCCCCTCACCTCCCGGATGGGGCGGCTGGCCAGGTGGGGGGC
TGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCT
GACCCCCCCAACTCCCTCCCGGACGGGGCGGCTGGCCGGGCATGGGGCTG
ACCCCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCTGGTGGGGGG
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 598880
chr17:598880 G
G
 GCCCCCCA
others(414): Show 
GCCCCCCACCAGGCCAGCCACCCCGTCCGGGAGGGAGGTGGGGGGTCAGC
CCCATGCCCGGCCAGCCGCCCCGTCCCGGAGGGAGTTGGGGGGGTCAGCC
CCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCC
CCCACCCGGCCAGCCGCCCCATCCGGGAGGTGAGGGGCGCCTCTGCCCGG
CCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCAGCCAGCCGCCCCGT
CCGGGAGGGAGGTGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTC
TTGGAGGGAGGTGGGGGGGTCAGCCCCACGCCCGGCCAGGCGCCCCGTCC
GGGAGGGAGGTGGGGGGGTCAGCCCCTCGCCCAGCCAGCCGCCCCGTCCG
GGAGGGAGGTGGGGGGTCAGCC
 1 a0001c0001t0113g0122
a0001c0001t0113g0122
 1 HG00741.hp2
HG00741.hp2
 intron_variant MODIFIER c.1218+2914_1218+291
others(425): Show 
c.1218+2914_1218+2915insGGCTGACCCCCCACCTCCCTCCCGGA
CGGGGCGGCTGGCTGGGCGAGGGGCTGACCCCCCCACCTCCCTCCCGGAC
GGGGCGCCTGGCCGGGCGTGGGGCTGACCCCCCCACCTCCCTCCAAGACG
GGGCGGCTGGCCGGGCAGGGGGCTGACCCCCCCACCTCCCTCCCGGACGG
GGCGGCTGGCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGG
GCAGAGGCGCCCCTCACCTCCCGGATGGGGCGGCTGGCCGGGTGGGGGGC
TGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCT
GACCCCCCCAACTCCCTCCGGGACGGGGCGGCTGGCCGGGCATGGGGCTG
ACCCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCTGGTGGGGGG
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 598880
chr17:598885 A
A
 C
C
 73 a0001c0001t0102g0220
a0001c0002t0001g0045
a0001c0002t0001g0056
others(70): Show 
a0001c0001t0102g0220
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0001g0094
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0038g0224
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0065g0093
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0077g0095
a0001c0002t0078g0041
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0007t0023g0109
a0001c0011t0051g0091
a0001c0014t0135g0166
a0001c0015t0126g0149
a0001c0016t0052g0099
a0002c0003t0073g0068
 73 HG00099.hp2
HG00140.hp2
HG00280.hp1
others(70): Show 
HG00099.hp2
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00621.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01099.hp2
HG01106.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01192.hp2
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01346.hp1
HG01361.hp1
HG01496.hp1
HG01515.hp2
HG01978.hp1
HG01981.hp2
HG02135.hp1
HG02135.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02723.hp1
HG02738.hp1
HG02886.hp1
HG03491.hp1
HG03492.hp1
HG03516.hp2
HG03688.hp1
HG04204.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp2
NA18940.hp1
NA18944.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18955.hp2
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18962.hp2
NA18967.hp1
NA18973.hp1
NA18977.hp2
NA18979.hp1
NA18984.hp2
NA18994.hp2
NA19000.hp2
NA19007.hp1
NA19009.hp1
NA19010.hp2
NA19064.hp2
NA19065.hp1
NA19070.hp1
NA19079.hp1
NA19084.hp1
NA19087.hp1
NA19090.hp1
NA19091.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1218+2910T>G
c.1218+2910T>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 598885
chr17:598885 ATG
ATG
 A
A
 75 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(72): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0017g0158
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0032g0114
a0001c0001t0032g0204
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0034g0126
a0001c0001t0034g0162
a0001c0001t0069g0012
a0001c0001t0084g0046
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0097g0199
a0001c0001t0098g0147
a0001c0001t0101g0200
a0001c0001t0105g0201
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0108g0148
a0001c0001t0110g0127
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0118g0195
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0122g0160
a0001c0001t0123g0123
a0001c0001t0127g0159
a0001c0001t0128g0132
a0001c0001t0134g0154
a0001c0001t0138g0161
a0001c0001t0141g0165
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0062g0104
a0001c0007t0070g0112
a0002c0010t0038g0156
a0006c0012t0129g0140
a0007c0013t0132g0163
 75 HG00423.hp2
HG00741.hp1
HG00741.hp2
others(72): Show 
HG00423.hp2
HG00741.hp1
HG00741.hp2
HG01081.hp2
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01175.hp2
HG01192.hp1
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01346.hp2
HG01361.hp2
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp2
HG01978.hp2
HG02040.hp2
HG02056.hp2
HG02083.hp2
HG02109.hp2
HG02129.hp2
HG02132.hp2
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02723.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03492.hp2
HG03516.hp1
HG03688.hp2
HG04184.hp2
HG04199.hp2
HG04204.hp1
NA18940.hp2
NA18945.hp2
NA18950.hp1
NA18961.hp1
NA18967.hp2
NA18978.hp2
NA18983.hp2
NA18987.hp2
NA19009.hp2
NA19060.hp2
NA19065.hp2
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19079.hp2
NA19081.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA21309.hp1
 intron_variant MODIFIER c.1218+2908_1218+290
others(6): Show 
c.1218+2908_1218+2909delCA
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 598885
chr17:598886 T
T
 C
C
 123 a0001c0001t0102g0220
a0001c0002t0001g0045
a0001c0002t0001g0056
others(120): Show 
a0001c0001t0102g0220
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0001g0094
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0017g0225
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0035g0219
a0001c0002t0038g0224
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0050g0049
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0065g0093
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0077g0095
a0001c0002t0078g0041
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0002t0086g0221
a0001c0002t0100g0223
a0001c0002t0109g0222
a0001c0002t0125g0116
a0001c0002t0143g0226
a0001c0002t0149g0202
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0007t0023g0109
a0001c0011t0051g0091
a0001c0014t0135g0166
a0001c0015t0126g0149
a0001c0016t0052g0099
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0017g0179
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0073g0068
a0002c0003t0085g0184
a0002c0003t0089g0175
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0099g0192
a0002c0003t0104g0208
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0145g0187
a0002c0003t0146g0170
a0002c0003t0148g0174
a0002c0003t0150g0191
a0004c0008t0035g0203
a0004c0008t0036g0207
a0004c0008t0103g0227
a0004c0008t0124g0229
a0004c0008t0133g0232
a0004c0008t0142g0228
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
 123 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(120): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00621.hp1
HG00621.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01192.hp2
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01346.hp1
HG01361.hp1
HG01496.hp1
HG01515.hp2
HG01516.hp1
HG01928.hp1
HG01978.hp1
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02056.hp1
HG02074.hp2
HG02083.hp1
HG02129.hp1
HG02132.hp1
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02280.hp1
HG02293.hp1
HG02300.hp1
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02723.hp1
HG02738.hp1
HG02886.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03516.hp2
HG03688.hp1
HG03831.hp1
HG03942.hp2
HG04184.hp1
HG04199.hp1
HG04204.hp2
NA18612.hp1
NA18747.hp1
NA18747.hp2
NA18906.hp2
NA18940.hp1
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18955.hp1
NA18955.hp2
NA18957.hp2
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18962.hp2
NA18967.hp1
NA18973.hp1
NA18973.hp2
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18984.hp2
NA18986.hp1
NA18987.hp1
NA18990.hp2
NA18994.hp2
NA19000.hp1
NA19000.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19064.hp2
NA19065.hp1
NA19066.hp1
NA19066.hp2
NA19070.hp1
NA19074.hp1
NA19079.hp1
NA19080.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1218+2909A>G
c.1218+2909A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 598886
chr17:598887 G
G
 A
A
 3 a0001c0001t0102g0220
a0001c0007t0023g0109
a0001c0014t0135g0166
a0001c0001t0102g0220
a0001c0007t0023g0109
a0001c0014t0135g0166
 3 HG01192.hp2
HG02572.hp1
HG02572.hp2
HG01192.hp2
HG02572.hp1
HG02572.hp2
 intron_variant MODIFIER c.1218+2908C>T
c.1218+2908C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 598887
chr17:598887 G
G
 GCCAGGCC
others(364): Show 
GCCAGGCCAGCCACCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCATG
CCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGC
CCGGCCAGCCGCCCCATCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCC
CCTACTGGGAAGTGAGGAGCCCCTCTGCCCAGCCAGCCGCCCCGTCCGGG
AGGGAGGTGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCTTGGA
GGGAGGTGGGGGGGTCAGCCCCACGCCCGGCCAGGCGCCCCGTCCGGGAG
GGAGGTGGGGGGGTCAGCCCCTCGCCCGGCCAGCTGCCCCGTCCGGGAGG
GAGGTGGGGGGTCAGCCCCCCA
 10 a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
others(7): Show 
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
 10 HG02135.hp2
HG02602.hp1
NA18747.hp1
others(7): Show 
HG02135.hp2
HG02602.hp1
NA18747.hp1
NA18955.hp2
NA18960.hp2
NA18994.hp2
NA19000.hp2
NA19010.hp2
NA19087.hp1
NA19091.hp1
 intron_variant MODIFIER c.1218+2907_1218+290
others(375): Show 
c.1218+2907_1218+2908insTGGGGGGCTGACCCCCCACCTCCCTC
CCGGACGGGGCAGCTGGCCGGGCGAGGGGCTGACCCCCCCACCTCCCTCC
CGGACGGGGCGCCTGGCCGGGCGTGGGGCTGACCCCCCCACCTCCCTCCA
AGACGGGGCGGCTGGCCGGGCAGGGGGCTGACCCCCCCACCTCCCTCCCG
GACGGGGCGGCTGGCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCG
GCCGGGCAGAGGCGCCCCTCACCTCCCGGATGGGGCGGCTGGCCGGGCGG
GGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCATG
GGGCTGACCCCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCTGG
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 598887
chr17:598887 G
G
 GCCAGGCC
others(316): Show 
GCCAGGCCAGCCACCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCATG
CCCGGCCAGCCGCCCCGTCCGGGAGGGAGATGGGGGGGTCAGCCCCCCGC
CCGGCCAGCCGCCCCATCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCC
CCTACTGGGAAGTGAGGAGCCCCTCTGCCCAGCCAGCCGCCCCGTCCGGG
AGGGAGGTGGGGGGGTCAGCCCCACGCCCGGCCAGGCGCCCCGTCCGGGA
GGGAGGTGGGGGGGTCAGCCCCTCGCCCGGCCAGCCGCCCCGTCCGGGAG
GGAGGTGGGGGGGTCAGCCCCCCA
 1 a0001c0002t0001g0090
a0001c0002t0001g0090
 1 HG02738.hp1
HG02738.hp1
 intron_variant MODIFIER c.1218+2907_1218+290
others(327): Show 
c.1218+2907_1218+2908insTGGGGGGCTGACCCCCCCACCTCCCT
CCCGGACGGGGCGGCTGGCCGGGCGAGGGGCTGACCCCCCCACCTCCCTC
CCGGACGGGGCGCCTGGCCGGGCGTGGGGCTGACCCCCCCACCTCCCTCC
CGGACGGGGCGGCTGGCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGG
CGGCCGGGCAGAGGCGCCCCTCACCTCCCGGATGGGGCGGCTGGCCGGGC
GGGGGGCTGACCCCCCCATCTCCCTCCCGGACGGGGCGGCTGGCCGGGCA
TGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCTGG
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 598887
chr17:598887 G
G
 GCCAGGCC
others(315): Show 
GCCAGGCCAGCCACCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCATG
CCCGGCCAGCCGCCCCGTCCGGGAGGGAGATGGGGGGGTCAGCCCCCCGC
CCGGCCAGCCGCCCCATCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCC
CCTACTGGGAAGTGAGGAGCCCCTCTGCCCAGCCAGCCGCCCCGTCCGGG
AGGGAGGTGGGGGGGTCAGCCCCACGCCCGGCCAGGCGCCCCGTCCGGGA
GGGAGGTGGGGGGGTCAGCCCCTCGCCCGGCCAGCCGCCCCGTCCGGGAG
GGAGGTGGGGGGTCAGCCCCCCA
 42 a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
others(39): Show 
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0078g0041
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0002c0003t0073g0068
 42 HG00140.hp2
HG00280.hp1
HG00323.hp1
others(39): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp1
HG00621.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01106.hp1
HG01167.hp2
HG01168.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01361.hp1
HG01496.hp1
HG01978.hp1
HG02135.hp1
HG02886.hp1
HG03516.hp2
HG04204.hp2
NA18906.hp2
NA18940.hp1
NA18944.hp1
NA18946.hp2
NA18948.hp2
NA18959.hp2
NA18960.hp1
NA18962.hp2
NA18967.hp1
NA18973.hp1
NA18977.hp2
NA18979.hp1
NA19007.hp1
NA19009.hp1
NA19065.hp1
NA19070.hp1
NA19079.hp1
NA19084.hp1
NA19090.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1218+2907_1218+290
others(326): Show 
c.1218+2907_1218+2908insTGGGGGGCTGACCCCCCACCTCCCTC
CCGGACGGGGCGGCTGGCCGGGCGAGGGGCTGACCCCCCCACCTCCCTCC
CGGACGGGGCGCCTGGCCGGGCGTGGGGCTGACCCCCCCACCTCCCTCCC
GGACGGGGCGGCTGGCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGC
GGCCGGGCAGAGGCGCCCCTCACCTCCCGGATGGGGCGGCTGGCCGGGCG
GGGGGCTGACCCCCCCATCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAT
GGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCTGG
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 598887
chr17:598887 G
G
 GCCAGGCC
others(315): Show 
GCCAGGCCAGCCACCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCATG
CCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGC
CCGGCCAGCCACCCCATCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCC
CCTACTGGGAAGTGAGGAGCCCCTCTGCCCAGCCAGCCGCCCCGTCCGGG
AGGGAGGTGGGGGGGTCAGCCCCACGCCCGGCCAGGCGCCCCGTCCGGGA
GGGAGGTGGGGGGGTCAGCCCCTCGCCCGGCCAGCCGCCCCGTCCGGGAG
GGAGGTGGGGGGTCAGCCCCCCA
 2 a0001c0002t0038g0224
a0001c0015t0126g0149
a0001c0002t0038g0224
a0001c0015t0126g0149
 2 HG01346.hp1
HG02723.hp1
HG01346.hp1
HG02723.hp1
 intron_variant MODIFIER c.1218+2907_1218+290
others(326): Show 
c.1218+2907_1218+2908insTGGGGGGCTGACCCCCCACCTCCCTC
CCGGACGGGGCGGCTGGCCGGGCGAGGGGCTGACCCCCCCACCTCCCTCC
CGGACGGGGCGCCTGGCCGGGCGTGGGGCTGACCCCCCCACCTCCCTCCC
GGACGGGGCGGCTGGCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGC
GGCCGGGCAGAGGCGCCCCTCACCTCCCGGATGGGGTGGCTGGCCGGGCG
GGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAT
GGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCTGG
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 598887
chr17:598887 G
G
 GCCAGGCC
others(364): Show 
GCCAGGCCAGCCACCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCATG
CCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGC
CCGGCCAGCCGCCCCATGCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCC
CCTACTGGGAAGTGAGGAGCCCCTCTGCCCAGCCAGCTGCCCCGTCCGGG
AGGGAGGTGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCTTGGA
GGGAGGTGGGGGGGTCAGCCCCACGCCCGGCCAGGCGCCCCGTCCGGGAG
GGAGGTGGGGGGGTCAGCCCCTCGCCCGGCCAGCCGCCCCGTCCGGGAGG
GAGGTGGGGGGTCAGCCCCCCA
 4 a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
others(1): Show 
a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0011t0051g0091
 4 HG01074.hp2
NA18747.hp2
NA18984.hp2
others(1): Show 
HG01074.hp2
NA18747.hp2
NA18984.hp2
NA19064.hp2
 intron_variant MODIFIER c.1218+2907_1218+290
others(375): Show 
c.1218+2907_1218+2908insTGGGGGGCTGACCCCCCACCTCCCTC
CCGGACGGGGCGGCTGGCCGGGCGAGGGGCTGACCCCCCCACCTCCCTCC
CGGACGGGGCGCCTGGCCGGGCGTGGGGCTGACCCCCCCACCTCCCTCCA
AGACGGGGCGGCTGGCCGGGCAGGGGGCTGACCCCCCCACCTCCCTCCCG
GACGGGGCAGCTGGCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCG
GCCGGGCAGAGGCGCCCCTCACCTCCCGCATGGGGCGGCTGGCCGGGCGG
GGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCATG
GGGCTGACCCCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCTGG
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 598887
chr17:598887 G
G
 GCCAGGCC
others(413): Show 
GCCAGGCCAGCCACCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCATG
CCCGGCCAGCCGCCCCGTCCGGGAGGGAGTTGGGGGGGGTCAGCCCCCCG
CCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGC
CCGGCCAGCCGCCCCATCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCC
CCTACTGGGAAGTGAGGAGCCCCTCTGCCCAGCCAGCCGCCCCGTCCAGG
AGGGAGGTGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCTTGGAG
GGAGGTGGGGGGGTCAGCCCCACGCCCGGCCAGGCGCCCCGTCCGGGAGG
GAGGTGGGGGGGTCAGCCCCTCGCCTGGCCAGCCGCCCCGTCCGGGAGGG
AGGTGGGGGGTCAGCCCCCCA
 1 a0001c0006t0041g0001
a0001c0006t0041g0001
 1 HG01175.hp1
HG01175.hp1
 intron_variant MODIFIER c.1218+2907_1218+290
others(424): Show 
c.1218+2907_1218+2908insTGGGGGGCTGACCCCCCACCTCCCTC
CCGGACGGGGCGGCTGGCCAGGCGAGGGGCTGACCCCCCCACCTCCCTCC
CGGACGGGGCGCCTGGCCGGGCGTGGGGCTGACCCCCCCACCTCCCTCCA
AGACGGGGCGGCTGGCCGGGCAGGGGGCTGACCCCCCACCTCCCTCCTGG
ACGGGGCGGCTGGCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGG
CCGGGCAGAGGCGCCCCTCACCTCCCGGATGGGGCGGCTGGCCGGGCGGG
GGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGG
GGCTGACCCCCCCCAACTCCCTCCCGGACGGGGCGGCTGGCCGGGCATGG
GGCTGACCCCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCTGG
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 598887
chr17:598887 G
G
 GCCAGGCC
others(412): Show 
GCCAGGCCAGCCACCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCATG
CCCGGCCAGCCGCCCCGTCCGGGAGGGAGTTGGGGGGGTCAGCCCCCCGC
CCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCC
CGGCCAGCCGCCCCATCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCC
CTACTGGGAAGTGAGGAGCCCCTCTGCCCAGCCAGCCGCCCCGTCCAGGA
GGGAGGTGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCTTGGAGG
GAGGTGGGGGGGTCAGCCCCACGCCCGGCCAGGCGCCCCGTCCGGGAGGG
AGGTGGGGGGGTCAGCCCCTCGCCTGGCCAGCCGCCCCGTCCGGGAGGGA
GGTGGGGGGTCAGCCCCCCA
 10 a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
others(7): Show 
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0016t0052g0099
 10 HG00099.hp2
HG00280.hp2
HG01099.hp2
others(7): Show 
HG00099.hp2
HG00280.hp2
HG01099.hp2
HG01168.hp2
HG01515.hp2
HG01981.hp2
HG03491.hp1
HG03492.hp1
HG03688.hp1
NA18948.hp1
 intron_variant MODIFIER c.1218+2907_1218+290
others(423): Show 
c.1218+2907_1218+2908insTGGGGGGCTGACCCCCCACCTCCCTC
CCGGACGGGGCGGCTGGCCAGGCGAGGGGCTGACCCCCCCACCTCCCTCC
CGGACGGGGCGCCTGGCCGGGCGTGGGGCTGACCCCCCCACCTCCCTCCA
AGACGGGGCGGCTGGCCGGGCAGGGGGCTGACCCCCCACCTCCCTCCTGG
ACGGGGCGGCTGGCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGG
CCGGGCAGAGGCGCCCCTCACCTCCCGGATGGGGCGGCTGGCCGGGCGGG
GGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGG
GGCTGACCCCCCCAACTCCCTCCCGGACGGGGCGGCTGGCCGGGCATGGG
GCTGACCCCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCTGG
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 598887
chr17:598887 G
G
 GCCCGGCC
others(267): Show 
GCCCGGCCACCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCG
CCCGGCCAGCCGCCCCATCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGC
CCCTACTGGGAAGTGAGGAGCCCCTCTGCCCAGCCAGCCGCCCCGTCCGG
GAGGGAGGTGGGGGGGGTCAGCCCCACGCCCGGCCAGGCGCCCCGTCCGG
GAGGGAGGTGGGGGGGTCAGCCCCTCGCCCGGCCAGCCGCCCCGTCCGGG
AGGGAGGTGGGGGGTCAGCCCCCCA
 1 a0003c0004t0006g0016
a0003c0004t0006g0016
 1 NA18962.hp1
NA18962.hp1
 intron_variant MODIFIER c.1218+2907_1218+290
others(278): Show 
c.1218+2907_1218+2908insTGGGGGGCTGACCCCCCACCTCCCTC
CCGGACGGGGCGGCTGGCCGGGCGAGGGGCTGACCCCCCCACCTCCCTCC
CGGACGGGGCGCCTGGCCGGGCGTGGGGCTGACCCCCCCCACCTCCCTCC
CGGACGGGGCGGCTGGCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGG
CGGCCGGGCAGAGGCGCCCCTCACCTCCCGGATGGGGCGGCTGGCCGGGC
GGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGGTGGCCGGG
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 598887
chr17:598887 G
G
 GCCCGGCC
others(266): Show 
GCCCGGCCACCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCG
CCCGGCCAGCCGCCCCATCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGC
CCCTACTGGGAAGTGAGGAGCCCCTCTGCCCAGCCAGCCGCCCCGTCCGG
GAGGGAGGTGGGGGGGTCAGCCCCACGCCCGGCCAGGCGCCCCGTCCGGG
AGGGAGGTGGGGGGGTCAGCCCCTCGCCCGGCCAGCCGCCCCGTCCGGGA
GGGAGGTGGGGGATCAGCCCCCCA
 2 a0003c0004t0003g0036
a0003c0004t0081g0035
a0003c0004t0003g0036
a0003c0004t0081g0035
 2 HG02109.hp1
NA21309.hp2
HG02109.hp1
NA21309.hp2
 intron_variant MODIFIER c.1218+2907_1218+290
others(277): Show 
c.1218+2907_1218+2908insTGGGGGGCTGATCCCCCACCTCCCTC
CCGGACGGGGCGGCTGGCCGGGCGAGGGGCTGACCCCCCCACCTCCCTCC
CGGACGGGGCGCCTGGCCGGGCGTGGGGCTGACCCCCCCACCTCCCTCCC
GGACGGGGCGGCTGGCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGC
GGCCGGGCAGAGGCGCCCCTCACCTCCCGGATGGGGCGGCTGGCCGGGCG
GGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGGTGGCCGGG
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 598887
chr17:598887 G
G
 GCCCGGCC
others(266): Show 
GCCCGGCCACCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCG
CCCGGCCAGCCGCCCCATCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGC
CCCTACTGGGAAGTGAGGAGCCCCTCTGCCCAGCCAGCCGCCCCGTCCGG
GAGGGAGGTGGGGGGGTCAGCCCCACGCCCGGCCAGGCGCCCCGTCCGGG
AGGGAGGTGGGGGGGTCAGCCCCTCGCCCGGCCAGCCGCCCCGTCCGGGA
GGGAGGTGGGGGGTCAGCCCCCCA
 27 a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0043
others(24): Show 
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
 27 HG01257.hp2
HG01516.hp2
HG01517.hp1
others(24): Show 
HG01257.hp2
HG01516.hp2
HG01517.hp1
HG02074.hp1
HG03831.hp2
NA18612.hp2
NA18906.hp1
NA18945.hp1
NA18950.hp2
NA18957.hp1
NA18959.hp1
NA18961.hp2
NA18977.hp1
NA18978.hp1
NA18984.hp1
NA18986.hp2
NA18990.hp1
NA18994.hp1
NA19011.hp2
NA19060.hp1
NA19064.hp1
NA19068.hp1
NA19080.hp1
NA19081.hp1
NA19087.hp2
NA19091.hp2
NA20805.hp1
 intron_variant MODIFIER c.1218+2907_1218+290
others(277): Show 
c.1218+2907_1218+2908insTGGGGGGCTGACCCCCCACCTCCCTC
CCGGACGGGGCGGCTGGCCGGGCGAGGGGCTGACCCCCCCACCTCCCTCC
CGGACGGGGCGCCTGGCCGGGCGTGGGGCTGACCCCCCCACCTCCCTCCC
GGACGGGGCGGCTGGCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGC
GGCCGGGCAGAGGCGCCCCTCACCTCCCGGATGGGGCGGCTGGCCGGGCG
GGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGGTGGCCGGG
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 598887
chr17:598887 G
G
 GCCCGGCC
others(218): Show 
GCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCG
CCCGGCCAGCCACCCCATCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGC
CCCTACTGGGAAGTGAGGAGCCCCTCTGCCCAGCCAGCCGCCCCGTCCGG
GAGGGAGGTGGGGGGGGTCAGCCCCACGCCCGGCCAGGCGCCCCGTCCGG
GAGGGAGGTGGGGGGTCAGCCCCCCA
 2 a0002c0003t0018g0231
a0002c0003t0144g0215
a0002c0003t0018g0231
a0002c0003t0144g0215
 2 HG02738.hp2
HG03942.hp1
HG02738.hp2
HG03942.hp1
 intron_variant MODIFIER c.1218+2907_1218+290
others(229): Show 
c.1218+2907_1218+2908insTGGGGGGCTGACCCCCCACCTCCCTC
CCGGACGGGGCGCCTGGCCGGGCGTGGGGCTGACCCCCCCCACCTCCCTC
CCGGACGGGGCGGCTGGCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGG
GCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGATGGGGTGGCTGGCCGGG
CGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 598887
chr17:598887 G
G
 GCCCGGCC
others(364): Show 
GCCCGGCCAGCCGCCCCGTCCGGGAGGGAGTTGGGGGGGTCAGCCCCCCG
CCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCAC
CCGGCCAGCCGCCCCATCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCC
CCTACTGGGAAGTGAGGAGCCCCTCTGCCCAGCCAGCCGCCCCGTCCGGG
AGGGAGGTGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCTTGGA
GGGAGGTGGGGGGGTCAGCCCCACGCCCGGCCAGGCGCCCCGTCCGGGAG
GGAGGTGGGGGGGTCAGCCCCTCGCCCGGCCAGCCGCCCCGTCCGGGAGG
GAGGTGGGGGGTCAGCCCCCCA
 1 a0001c0002t0049g0048
a0001c0002t0049g0048
 1 HG02145.hp2
HG02145.hp2
 intron_variant MODIFIER c.1218+2907_1218+290
others(375): Show 
c.1218+2907_1218+2908insTGGGGGGCTGACCCCCCACCTCCCTC
CCGGACGGGGCGGCTGGCCGGGCGAGGGGCTGACCCCCCCACCTCCCTCC
CGGACGGGGCGCCTGGCCGGGCGTGGGGCTGACCCCCCCACCTCCCTCCA
AGACGGGGCGGCTGGCCGGGCAGGGGGCTGACCCCCCCACCTCCCTCCCG
GACGGGGCGGCTGGCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCG
GCCGGGCAGAGGCGCCCCTCACCTCCCGGATGGGGCGGCTGGCCGGGTGG
GGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGG
GGGCTGACCCCCCCAACTCCCTCCCGGACGGGGCGGCTGGCCGGG
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 598887
chr17:598887 G
G
 GCCCGGCC
others(90): Show 
GCCCGGCCAGGCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCTCG
CCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGTCAGCCCCCCA
 13 a0001c0002t0017g0225
a0001c0002t0035g0219
a0001c0002t0050g0049
others(10): Show 
a0001c0002t0017g0225
a0001c0002t0035g0219
a0001c0002t0050g0049
a0001c0002t0086g0221
a0001c0002t0100g0223
a0001c0002t0109g0222
a0001c0002t0125g0116
a0001c0002t0149g0202
a0004c0008t0035g0203
a0004c0008t0103g0227
a0004c0008t0124g0229
a0004c0008t0133g0232
a0004c0008t0142g0228
 13 HG00099.hp1
HG00438.hp1
HG01516.hp1
others(10): Show 
HG00099.hp1
HG00438.hp1
HG01516.hp1
HG02145.hp1
HG02280.hp1
HG03942.hp2
HG04184.hp1
NA18944.hp2
NA18973.hp2
NA18990.hp2
NA19007.hp2
NA19011.hp1
NA19066.hp1
 intron_variant MODIFIER c.1218+2907_1218+290
others(101): Show 
c.1218+2907_1218+2908insTGGGGGGCTGACCCCCCACCTCCCTC
CCGGACGGGGCGGCTGGCCGGGCGAGGGGCTGACCCCCCCACCTCCCTCC
CGGACGGGGCGCCTGGCCGGG
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 598887
chr17:598887 G
G
 GCCCGGCC
others(187): Show 
GCCCGGCCAGGCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCTCG
CCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGTCAGCCCCCCACC
CGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCTCGCCC
GGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGTCAGCCCCCCA
 1 a0001c0002t0143g0226
a0001c0002t0143g0226
 1 HG00140.hp1
HG00140.hp1
 intron_variant MODIFIER c.1218+2907_1218+290
others(198): Show 
c.1218+2907_1218+2908insTGGGGGGCTGACCCCCCACCTCCCTC
CCGGACGGGGCGGCTGGCCGGGCGAGGGGCTGACCCCCCCACCTCCCTCC
CGGACGGGGCGGCTGGCCGGGTGGGGGGCTGACCCCCCACCTCCCTCCCG
GACGGGGCGGCTGGCCGGGCGAGGGGCTGACCCCCCCACCTCCCTCCCGG
ACGGGGCGCCTGGCCGGG
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 598887
chr17:598887 G
G
 GCCCGGCC
others(41): Show 
GCCCGGCCAGGCGCCCCGTCCGGGAGGGAGGTGGGGGGTCAGCCCCCCA
 36 a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
others(33): Show 
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0017g0179
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0085g0184
a0002c0003t0089g0175
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0099g0192
a0002c0003t0104g0208
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0145g0187
a0002c0003t0146g0170
a0002c0003t0148g0174
a0002c0003t0150g0191
a0004c0008t0036g0207
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
 36 HG00323.hp2
HG00423.hp1
HG00438.hp2
others(33): Show 
HG00323.hp2
HG00423.hp1
HG00438.hp2
HG00621.hp1
HG01070.hp2
HG01071.hp1
HG01099.hp1
HG01167.hp1
HG01928.hp1
HG01981.hp1
HG02040.hp1
HG02056.hp1
HG02074.hp2
HG02083.hp1
HG02129.hp1
HG02132.hp1
HG02293.hp1
HG02300.hp1
HG03491.hp2
HG03831.hp1
HG04199.hp1
NA18612.hp1
NA18946.hp1
NA18955.hp1
NA18957.hp2
NA18979.hp2
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA19000.hp1
NA19010.hp1
NA19066.hp2
NA19074.hp1
NA19080.hp2
NA19084.hp2
NA19090.hp2
 intron_variant MODIFIER c.1218+2907_1218+290
others(52): Show 
c.1218+2907_1218+2908insTGGGGGGCTGACCCCCCACCTCCCTC
CCGGACGGGGCGCCTGGCCGGG
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 598887
chr17:598899 G
G
 A
A
 11 a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
others(8): Show 
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0016t0052g0099
 11 HG00099.hp2
HG00280.hp2
HG01099.hp2
others(8): Show 
HG00099.hp2
HG00280.hp2
HG01099.hp2
HG01168.hp2
HG01175.hp1
HG01515.hp2
HG01981.hp2
HG03491.hp1
HG03492.hp1
HG03688.hp1
NA18948.hp1
 intron_variant MODIFIER c.1218+2896C>T
c.1218+2896C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 598899
chr17:598976 C
C
 T
T
 13 a0001c0001t0017g0158
a0001c0001t0032g0204
a0001c0001t0033g0205
others(10): Show 
a0001c0001t0017g0158
a0001c0001t0032g0204
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0034g0162
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0122g0160
a0001c0001t0127g0159
a0001c0001t0138g0161
a0001c0001t0141g0165
a0002c0010t0038g0156
a0007c0013t0132g0163
 13 HG00741.hp1
HG01106.hp2
HG01109.hp1
others(10): Show 
HG00741.hp1
HG01106.hp2
HG01109.hp1
HG01257.hp1
HG01258.hp2
HG01891.hp1
HG02886.hp2
HG02895.hp2
HG02922.hp1
HG03225.hp1
HG04204.hp1
NA20129.hp1
NA21309.hp1
 intron_variant MODIFIER c.1218+2819G>A
c.1218+2819G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 598976
chr17:598996 T
T
 TG
TG
 54 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(51): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0030g0120
a0001c0001t0032g0204
a0001c0001t0034g0162
a0001c0001t0069g0012
a0001c0001t0084g0046
a0001c0001t0094g0129
a0001c0001t0106g0117
a0001c0001t0110g0127
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0120g0211
a0001c0001t0123g0123
a0001c0002t0001g0094
a0001c0002t0049g0048
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0005t0020g0005
a0001c0005t0045g0009
a0001c0007t0011g0105
a0001c0007t0012g0108
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0070g0112
a0001c0011t0051g0091
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0027g0169
a0002c0003t0092g0190
a0002c0003t0099g0192
a0002c0003t0144g0215
a0002c0003t0145g0187
a0002c0003t0146g0170
a0002c0003t0148g0174
a0002c0010t0038g0156
a0004c0008t0036g0207
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
a0006c0012t0129g0140
 54 HG00423.hp1
HG00423.hp2
HG00438.hp2
others(51): Show 
HG00423.hp1
HG00423.hp2
HG00438.hp2
HG01074.hp2
HG01081.hp2
HG01106.hp2
HG01175.hp2
HG01361.hp2
HG01496.hp2
HG01517.hp2
HG01884.hp2
HG01928.hp2
HG01978.hp2
HG02040.hp2
HG02056.hp1
HG02083.hp2
HG02109.hp2
HG02129.hp2
HG02132.hp2
HG02135.hp2
HG02145.hp2
HG02602.hp2
HG02738.hp2
HG02922.hp1
HG03492.hp2
HG03516.hp1
HG04184.hp2
HG04199.hp1
NA18747.hp2
NA18940.hp2
NA18945.hp2
NA18946.hp1
NA18950.hp1
NA18955.hp1
NA18967.hp2
NA18978.hp2
NA18979.hp2
NA18983.hp2
NA18984.hp2
NA19000.hp1
NA19009.hp2
NA19064.hp2
NA19065.hp2
NA19066.hp2
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19079.hp2
NA19080.hp2
NA19081.hp2
NA19084.hp2
NA19087.hp1
NA19090.hp2
NA21309.hp1
 intron_variant MODIFIER c.1218+2798dupC
c.1218+2798dupC
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 598996
chr17:598996 T
T
 TGG
TGG
 15 a0001c0001t0002g0213
a0001c0001t0015g0131
a0001c0001t0015g0135
others(12): Show 
a0001c0001t0002g0213
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0030g0119
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0107g0212
a0001c0001t0108g0148
a0001c0001t0113g0122
a0001c0001t0119g0144
a0001c0001t0128g0132
a0001c0007t0011g0106
a0001c0007t0023g0109
a0001c0007t0062g0104
a0002c0003t0018g0214
 15 HG00621.hp1
HG00741.hp2
HG01192.hp1
others(12): Show 
HG00621.hp1
HG00741.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01515.hp1
HG01891.hp2
HG02056.hp2
HG02280.hp2
HG02293.hp2
HG03688.hp2
NA18961.hp1
NA18987.hp2
NA19060.hp2
NA20129.hp2
 intron_variant MODIFIER c.1218+2797_1218+279
others(6): Show 
c.1218+2797_1218+2798dupCC
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 598996
chr17:598996 TG
TG
 T
T
 59 a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
others(56): Show 
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0087g0198
a0001c0001t0097g0199
a0001c0001t0102g0220
a0001c0001t0118g0195
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0017g0225
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0035g0219
a0001c0002t0038g0224
a0001c0002t0048g0089
a0001c0002t0050g0049
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0078g0041
a0001c0002t0079g0086
a0001c0002t0083g0067
a0001c0002t0100g0223
a0001c0002t0109g0222
a0001c0002t0125g0116
a0001c0002t0143g0226
a0001c0014t0135g0166
a0001c0015t0126g0149
a0002c0003t0073g0068
a0004c0008t0035g0203
a0004c0008t0124g0229
a0004c0008t0133g0232
a0004c0008t0142g0228
 59 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(56): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00323.hp1
HG00438.hp1
HG00621.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01106.hp1
HG01167.hp2
HG01168.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01496.hp1
HG01516.hp1
HG02280.hp1
HG02572.hp1
HG02572.hp2
HG02622.hp1
HG02622.hp2
HG02723.hp1
HG02723.hp2
HG02818.hp1
HG02886.hp1
HG02922.hp2
HG03139.hp2
HG03516.hp2
HG04184.hp1
HG04204.hp2
NA18906.hp2
NA18940.hp1
NA18944.hp2
NA18946.hp2
NA18948.hp2
NA18959.hp2
NA18960.hp1
NA18962.hp2
NA18967.hp1
NA18979.hp1
NA18990.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19011.hp1
NA19065.hp1
NA19066.hp1
NA19070.hp1
NA19079.hp1
NA19084.hp1
NA19090.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1218+2798delC
c.1218+2798delC
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 598996
chr17:599001 G
G
 C
C
 30 a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
others(27): Show 
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
 30 HG01257.hp2
HG01516.hp2
HG01517.hp1
others(27): Show 
HG01257.hp2
HG01516.hp2
HG01517.hp1
HG02074.hp1
HG02109.hp1
HG03831.hp2
NA18612.hp2
NA18906.hp1
NA18945.hp1
NA18950.hp2
NA18957.hp1
NA18959.hp1
NA18961.hp2
NA18962.hp1
NA18977.hp1
NA18978.hp1
NA18984.hp1
NA18986.hp2
NA18990.hp1
NA18994.hp1
NA19011.hp2
NA19060.hp1
NA19064.hp1
NA19068.hp1
NA19080.hp1
NA19081.hp1
NA19087.hp2
NA19091.hp2
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.1218+2794C>G
c.1218+2794C>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 599001
chr17:599004 G
G
 A
A
 11 a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
others(8): Show 
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0016t0052g0099
 11 HG00099.hp2
HG00280.hp2
HG01099.hp2
others(8): Show 
HG00099.hp2
HG00280.hp2
HG01099.hp2
HG01168.hp2
HG01175.hp1
HG01515.hp2
HG01981.hp2
HG03491.hp1
HG03492.hp1
HG03688.hp1
NA18948.hp1
 intron_variant MODIFIER c.1218+2791C>T
c.1218+2791C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 599004
chr17:599035 A
A
 G
G
 11 a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
others(8): Show 
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0016t0052g0099
 11 HG00099.hp2
HG00280.hp2
HG01099.hp2
others(8): Show 
HG00099.hp2
HG00280.hp2
HG01099.hp2
HG01168.hp2
HG01175.hp1
HG01515.hp2
HG01981.hp2
HG03491.hp1
HG03492.hp1
HG03688.hp1
NA18948.hp1
 intron_variant MODIFIER c.1218+2760T>C
c.1218+2760T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 599035
chr17:599038 C
C
 T
T
 43 a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
others(40): Show 
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0078g0041
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0002c0003t0073g0068
 43 HG00140.hp2
HG00280.hp1
HG00323.hp1
others(40): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp1
HG00621.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01106.hp1
HG01167.hp2
HG01168.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01361.hp1
HG01496.hp1
HG01978.hp1
HG02135.hp1
HG02738.hp1
HG02886.hp1
HG03516.hp2
HG04204.hp2
NA18906.hp2
NA18940.hp1
NA18944.hp1
NA18946.hp2
NA18948.hp2
NA18959.hp2
NA18960.hp1
NA18962.hp2
NA18967.hp1
NA18973.hp1
NA18977.hp2
NA18979.hp1
NA19007.hp1
NA19009.hp1
NA19065.hp1
NA19070.hp1
NA19079.hp1
NA19084.hp1
NA19090.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1218+2757G>A
c.1218+2757G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 599038
chr17:599063 A
A
 G
G
 153 a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
others(150): Show 
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0001g0094
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0017g0225
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0035g0219
a0001c0002t0038g0224
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0050g0049
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0065g0093
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0077g0095
a0001c0002t0078g0041
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0002t0086g0221
a0001c0002t0100g0223
a0001c0002t0109g0222
a0001c0002t0125g0116
a0001c0002t0143g0226
a0001c0002t0149g0202
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0011t0051g0091
a0001c0014t0135g0166
a0001c0015t0126g0149
a0001c0016t0052g0099
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0017g0179
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0018g0231
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0073g0068
a0002c0003t0085g0184
a0002c0003t0089g0175
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0099g0192
a0002c0003t0104g0208
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0145g0187
a0002c0003t0146g0170
a0002c0003t0148g0174
a0002c0003t0150g0191
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
a0004c0008t0035g0203
a0004c0008t0036g0207
a0004c0008t0103g0227
a0004c0008t0124g0229
a0004c0008t0133g0232
a0004c0008t0142g0228
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
 153 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(150): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00621.hp1
HG00621.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01255.hp1
HG01256.hp1
HG01257.hp2
HG01258.hp1
HG01346.hp1
HG01361.hp1
HG01496.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01928.hp1
HG01978.hp1
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02056.hp1
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02109.hp1
HG02129.hp1
HG02132.hp1
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02280.hp1
HG02293.hp1
HG02300.hp1
HG02572.hp1
HG02602.hp1
HG02723.hp1
HG02738.hp1
HG02738.hp2
HG02886.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03516.hp2
HG03688.hp1
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04199.hp1
HG04204.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18946.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp2
NA18955.hp1
NA18955.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18967.hp1
NA18973.hp1
NA18973.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18990.hp1
NA18990.hp2
NA18994.hp1
NA18994.hp2
NA19000.hp1
NA19000.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19060.hp1
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19070.hp1
NA19074.hp1
NA19079.hp1
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19087.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1218+2732T>C
c.1218+2732T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 599063
chr17:599099 A
A
 T
T
 1 a0004c0008t0036g0207
a0004c0008t0036g0207
 1 HG00423.hp1
HG00423.hp1
 intron_variant MODIFIER c.1218+2696T>A
c.1218+2696T>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 599099
chr17:599107 C
C
 T
T
 4 a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
others(1): Show 
a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0011t0051g0091
 4 HG01074.hp2
NA18747.hp2
NA18984.hp2
others(1): Show 
HG01074.hp2
NA18747.hp2
NA18984.hp2
NA19064.hp2
 intron_variant MODIFIER c.1218+2688G>A
c.1218+2688G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 599107
chr17:599113 G
G
 A
A
 1 a0001c0002t0014g0077
a0001c0002t0014g0077
 1 NA18967.hp1
NA18967.hp1
 intron_variant MODIFIER c.1218+2682C>T
c.1218+2682C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 599113
chr17:599165 C
C
 A
A
 15 a0001c0002t0017g0225
a0001c0002t0035g0219
a0001c0002t0038g0224
others(12): Show 
a0001c0002t0017g0225
a0001c0002t0035g0219
a0001c0002t0038g0224
a0001c0002t0050g0049
a0001c0002t0086g0221
a0001c0002t0100g0223
a0001c0002t0109g0222
a0001c0002t0125g0116
a0001c0002t0143g0226
a0001c0002t0149g0202
a0004c0008t0035g0203
a0004c0008t0103g0227
a0004c0008t0124g0229
a0004c0008t0133g0232
a0004c0008t0142g0228
 15 HG00099.hp1
HG00140.hp1
HG00438.hp1
others(12): Show 
HG00099.hp1
HG00140.hp1
HG00438.hp1
HG01346.hp1
HG01516.hp1
HG02145.hp1
HG02280.hp1
HG03942.hp2
HG04184.hp1
NA18944.hp2
NA18973.hp2
NA18990.hp2
NA19007.hp2
NA19011.hp1
NA19066.hp1
 intron_variant MODIFIER c.1218+2630G>T
c.1218+2630G>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 599165
chr17:599189 C
C
 T
T
 10 a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
others(7): Show 
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
 10 HG02135.hp2
HG02602.hp1
NA18747.hp1
others(7): Show 
HG02135.hp2
HG02602.hp1
NA18747.hp1
NA18955.hp2
NA18960.hp2
NA18994.hp2
NA19000.hp2
NA19010.hp2
NA19087.hp1
NA19091.hp1
 intron_variant MODIFIER c.1218+2606G>A
c.1218+2606G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 599189
chr17:599194 G
G
 A
A
 3 a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
 3 NA18946.hp1
NA18955.hp1
NA19066.hp2
NA18946.hp1
NA18955.hp1
NA19066.hp2
 intron_variant MODIFIER c.1218+2601C>T
c.1218+2601C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 599194
chr17:599291 C
C
 T
T
 11 a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
others(8): Show 
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0016t0052g0099
 11 HG00099.hp2
HG00280.hp2
HG01099.hp2
others(8): Show 
HG00099.hp2
HG00280.hp2
HG01099.hp2
HG01168.hp2
HG01175.hp1
HG01515.hp2
HG01981.hp2
HG03491.hp1
HG03492.hp1
HG03688.hp1
NA18948.hp1
 intron_variant MODIFIER c.1218+2504G>A
c.1218+2504G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 599291
chr17:599311 T
T
 C
C
 2 a0001c0001t0087g0198
a0001c0001t0105g0201
a0001c0001t0087g0198
a0001c0001t0105g0201
 2 HG01109.hp2
HG02818.hp1
HG01109.hp2
HG02818.hp1
 intron_variant MODIFIER c.1218+2484A>G
c.1218+2484A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 599311
chr17:599353 G
G
 A
A
 11 a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
others(8): Show 
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0016t0052g0099
 11 HG00099.hp2
HG00280.hp2
HG01099.hp2
others(8): Show 
HG00099.hp2
HG00280.hp2
HG01099.hp2
HG01168.hp2
HG01175.hp1
HG01515.hp2
HG01981.hp2
HG03491.hp1
HG03492.hp1
HG03688.hp1
NA18948.hp1
 intron_variant MODIFIER c.1218+2442C>T
c.1218+2442C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 599353
chr17:599383 G
G
 A
A
 11 a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
others(8): Show 
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0097g0199
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0105g0201
a0001c0001t0118g0195
 11 HG01109.hp2
HG01346.hp2
HG01884.hp1
others(8): Show 
HG01109.hp2
HG01346.hp2
HG01884.hp1
HG02572.hp2
HG02622.hp1
HG02622.hp2
HG02723.hp2
HG02818.hp1
HG02922.hp2
HG03139.hp1
HG03139.hp2
 intron_variant MODIFIER c.1218+2412C>T
c.1218+2412C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 599383
chr17:599618 A
A
 G
G
 85 a0001c0002t0017g0225
a0001c0002t0035g0219
a0001c0002t0038g0224
others(82): Show 
a0001c0002t0017g0225
a0001c0002t0035g0219
a0001c0002t0038g0224
a0001c0002t0050g0049
a0001c0002t0086g0221
a0001c0002t0100g0223
a0001c0002t0109g0222
a0001c0002t0125g0116
a0001c0002t0143g0226
a0001c0002t0149g0202
a0001c0014t0135g0166
a0001c0015t0126g0149
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0017g0179
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0018g0231
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0085g0184
a0002c0003t0089g0175
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0099g0192
a0002c0003t0104g0208
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0145g0187
a0002c0003t0146g0170
a0002c0003t0148g0174
a0002c0003t0150g0191
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
a0004c0008t0035g0203
a0004c0008t0036g0207
a0004c0008t0103g0227
a0004c0008t0124g0229
a0004c0008t0133g0232
a0004c0008t0142g0228
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
 85 HG00099.hp1
HG00140.hp1
HG00323.hp2
others(82): Show 
HG00099.hp1
HG00140.hp1
HG00323.hp2
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00621.hp1
HG01070.hp2
HG01071.hp1
HG01099.hp1
HG01167.hp1
HG01257.hp2
HG01346.hp1
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01928.hp1
HG01981.hp1
HG02040.hp1
HG02056.hp1
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02109.hp1
HG02129.hp1
HG02132.hp1
HG02145.hp1
HG02280.hp1
HG02293.hp1
HG02300.hp1
HG02572.hp1
HG02723.hp1
HG02738.hp2
HG03491.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04199.hp1
NA18612.hp1
NA18612.hp2
NA18906.hp1
NA18944.hp2
NA18945.hp1
NA18946.hp1
NA18950.hp2
NA18955.hp1
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18961.hp2
NA18962.hp1
NA18973.hp2
NA18977.hp1
NA18978.hp1
NA18979.hp2
NA18983.hp1
NA18984.hp1
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18990.hp1
NA18990.hp2
NA18994.hp1
NA19000.hp1
NA19007.hp2
NA19010.hp1
NA19011.hp1
NA19011.hp2
NA19060.hp1
NA19064.hp1
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19074.hp1
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19084.hp2
NA19087.hp2
NA19090.hp2
NA19091.hp2
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.1218+2177T>C
c.1218+2177T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 599618
chr17:599619 G
G
 A
A
 85 a0001c0002t0017g0225
a0001c0002t0035g0219
a0001c0002t0038g0224
others(82): Show 
a0001c0002t0017g0225
a0001c0002t0035g0219
a0001c0002t0038g0224
a0001c0002t0050g0049
a0001c0002t0086g0221
a0001c0002t0100g0223
a0001c0002t0109g0222
a0001c0002t0125g0116
a0001c0002t0143g0226
a0001c0002t0149g0202
a0001c0014t0135g0166
a0001c0015t0126g0149
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0017g0179
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0018g0231
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0085g0184
a0002c0003t0089g0175
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0099g0192
a0002c0003t0104g0208
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0145g0187
a0002c0003t0146g0170
a0002c0003t0148g0174
a0002c0003t0150g0191
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
a0004c0008t0035g0203
a0004c0008t0036g0207
a0004c0008t0103g0227
a0004c0008t0124g0229
a0004c0008t0133g0232
a0004c0008t0142g0228
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
 85 HG00099.hp1
HG00140.hp1
HG00323.hp2
others(82): Show 
HG00099.hp1
HG00140.hp1
HG00323.hp2
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00621.hp1
HG01070.hp2
HG01071.hp1
HG01099.hp1
HG01167.hp1
HG01257.hp2
HG01346.hp1
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01928.hp1
HG01981.hp1
HG02040.hp1
HG02056.hp1
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02109.hp1
HG02129.hp1
HG02132.hp1
HG02145.hp1
HG02280.hp1
HG02293.hp1
HG02300.hp1
HG02572.hp1
HG02723.hp1
HG02738.hp2
HG03491.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04199.hp1
NA18612.hp1
NA18612.hp2
NA18906.hp1
NA18944.hp2
NA18945.hp1
NA18946.hp1
NA18950.hp2
NA18955.hp1
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18961.hp2
NA18962.hp1
NA18973.hp2
NA18977.hp1
NA18978.hp1
NA18979.hp2
NA18983.hp1
NA18984.hp1
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18990.hp1
NA18990.hp2
NA18994.hp1
NA19000.hp1
NA19007.hp2
NA19010.hp1
NA19011.hp1
NA19011.hp2
NA19060.hp1
NA19064.hp1
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19074.hp1
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19084.hp2
NA19087.hp2
NA19090.hp2
NA19091.hp2
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.1218+2176C>T
c.1218+2176C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 599619
chr17:599623 T
T
 G
G
 85 a0001c0002t0017g0225
a0001c0002t0035g0219
a0001c0002t0038g0224
others(82): Show 
a0001c0002t0017g0225
a0001c0002t0035g0219
a0001c0002t0038g0224
a0001c0002t0050g0049
a0001c0002t0086g0221
a0001c0002t0100g0223
a0001c0002t0109g0222
a0001c0002t0125g0116
a0001c0002t0143g0226
a0001c0002t0149g0202
a0001c0014t0135g0166
a0001c0015t0126g0149
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0017g0179
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0018g0231
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0085g0184
a0002c0003t0089g0175
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0099g0192
a0002c0003t0104g0208
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0145g0187
a0002c0003t0146g0170
a0002c0003t0148g0174
a0002c0003t0150g0191
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
a0004c0008t0035g0203
a0004c0008t0036g0207
a0004c0008t0103g0227
a0004c0008t0124g0229
a0004c0008t0133g0232
a0004c0008t0142g0228
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
 85 HG00099.hp1
HG00140.hp1
HG00323.hp2
others(82): Show 
HG00099.hp1
HG00140.hp1
HG00323.hp2
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00621.hp1
HG01070.hp2
HG01071.hp1
HG01099.hp1
HG01167.hp1
HG01257.hp2
HG01346.hp1
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01928.hp1
HG01981.hp1
HG02040.hp1
HG02056.hp1
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02109.hp1
HG02129.hp1
HG02132.hp1
HG02145.hp1
HG02280.hp1
HG02293.hp1
HG02300.hp1
HG02572.hp1
HG02723.hp1
HG02738.hp2
HG03491.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04199.hp1
NA18612.hp1
NA18612.hp2
NA18906.hp1
NA18944.hp2
NA18945.hp1
NA18946.hp1
NA18950.hp2
NA18955.hp1
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18961.hp2
NA18962.hp1
NA18973.hp2
NA18977.hp1
NA18978.hp1
NA18979.hp2
NA18983.hp1
NA18984.hp1
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18990.hp1
NA18990.hp2
NA18994.hp1
NA19000.hp1
NA19007.hp2
NA19010.hp1
NA19011.hp1
NA19011.hp2
NA19060.hp1
NA19064.hp1
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19074.hp1
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19084.hp2
NA19087.hp2
NA19090.hp2
NA19091.hp2
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.1218+2172A>C
c.1218+2172A>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 599623
chr17:599656 T
T
 C
C
 85 a0001c0002t0017g0225
a0001c0002t0035g0219
a0001c0002t0038g0224
others(82): Show 
a0001c0002t0017g0225
a0001c0002t0035g0219
a0001c0002t0038g0224
a0001c0002t0050g0049
a0001c0002t0086g0221
a0001c0002t0100g0223
a0001c0002t0109g0222
a0001c0002t0125g0116
a0001c0002t0143g0226
a0001c0002t0149g0202
a0001c0014t0135g0166
a0001c0015t0126g0149
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0017g0179
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0018g0231
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0085g0184
a0002c0003t0089g0175
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0099g0192
a0002c0003t0104g0208
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0145g0187
a0002c0003t0146g0170
a0002c0003t0148g0174
a0002c0003t0150g0191
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
a0004c0008t0035g0203
a0004c0008t0036g0207
a0004c0008t0103g0227
a0004c0008t0124g0229
a0004c0008t0133g0232
a0004c0008t0142g0228
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
 85 HG00099.hp1
HG00140.hp1
HG00323.hp2
others(82): Show 
HG00099.hp1
HG00140.hp1
HG00323.hp2
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00621.hp1
HG01070.hp2
HG01071.hp1
HG01099.hp1
HG01167.hp1
HG01257.hp2
HG01346.hp1
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01928.hp1
HG01981.hp1
HG02040.hp1
HG02056.hp1
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02109.hp1
HG02129.hp1
HG02132.hp1
HG02145.hp1
HG02280.hp1
HG02293.hp1
HG02300.hp1
HG02572.hp1
HG02723.hp1
HG02738.hp2
HG03491.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04199.hp1
NA18612.hp1
NA18612.hp2
NA18906.hp1
NA18944.hp2
NA18945.hp1
NA18946.hp1
NA18950.hp2
NA18955.hp1
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18961.hp2
NA18962.hp1
NA18973.hp2
NA18977.hp1
NA18978.hp1
NA18979.hp2
NA18983.hp1
NA18984.hp1
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18990.hp1
NA18990.hp2
NA18994.hp1
NA19000.hp1
NA19007.hp2
NA19010.hp1
NA19011.hp1
NA19011.hp2
NA19060.hp1
NA19064.hp1
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19074.hp1
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19084.hp2
NA19087.hp2
NA19090.hp2
NA19091.hp2
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.1218+2139A>G
c.1218+2139A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 599656
chr17:599656 T
T
 G
G
 1 a0001c0001t0095g0145
a0001c0001t0095g0145
 1 NA20300.hp2
NA20300.hp2
 intron_variant MODIFIER c.1218+2139A>C
c.1218+2139A>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 599656
chr17:599670 A
A
 G
G
 85 a0001c0002t0017g0225
a0001c0002t0035g0219
a0001c0002t0038g0224
others(82): Show 
a0001c0002t0017g0225
a0001c0002t0035g0219
a0001c0002t0038g0224
a0001c0002t0050g0049
a0001c0002t0086g0221
a0001c0002t0100g0223
a0001c0002t0109g0222
a0001c0002t0125g0116
a0001c0002t0143g0226
a0001c0002t0149g0202
a0001c0014t0135g0166
a0001c0015t0126g0149
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0017g0179
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0018g0231
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0085g0184
a0002c0003t0089g0175
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0099g0192
a0002c0003t0104g0208
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0145g0187
a0002c0003t0146g0170
a0002c0003t0148g0174
a0002c0003t0150g0191
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
a0004c0008t0035g0203
a0004c0008t0036g0207
a0004c0008t0103g0227
a0004c0008t0124g0229
a0004c0008t0133g0232
a0004c0008t0142g0228
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
 85 HG00099.hp1
HG00140.hp1
HG00323.hp2
others(82): Show 
HG00099.hp1
HG00140.hp1
HG00323.hp2
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00621.hp1
HG01070.hp2
HG01071.hp1
HG01099.hp1
HG01167.hp1
HG01257.hp2
HG01346.hp1
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01928.hp1
HG01981.hp1
HG02040.hp1
HG02056.hp1
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02109.hp1
HG02129.hp1
HG02132.hp1
HG02145.hp1
HG02280.hp1
HG02293.hp1
HG02300.hp1
HG02572.hp1
HG02723.hp1
HG02738.hp2
HG03491.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04199.hp1
NA18612.hp1
NA18612.hp2
NA18906.hp1
NA18944.hp2
NA18945.hp1
NA18946.hp1
NA18950.hp2
NA18955.hp1
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18961.hp2
NA18962.hp1
NA18973.hp2
NA18977.hp1
NA18978.hp1
NA18979.hp2
NA18983.hp1
NA18984.hp1
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18990.hp1
NA18990.hp2
NA18994.hp1
NA19000.hp1
NA19007.hp2
NA19010.hp1
NA19011.hp1
NA19011.hp2
NA19060.hp1
NA19064.hp1
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19074.hp1
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19084.hp2
NA19087.hp2
NA19090.hp2
NA19091.hp2
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.1218+2125T>C
c.1218+2125T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 599670
chr17:599764 TA
TA
 T
T
 11 a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
others(8): Show 
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0016t0052g0099
 11 HG00099.hp2
HG00280.hp2
HG01099.hp2
others(8): Show 
HG00099.hp2
HG00280.hp2
HG01099.hp2
HG01168.hp2
HG01175.hp1
HG01515.hp2
HG01981.hp2
HG03491.hp1
HG03492.hp1
HG03688.hp1
NA18948.hp1
 intron_variant MODIFIER c.1218+2030delT
c.1218+2030delT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 599764
chr17:599765 A
A
 T
T
 49 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(46): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0032g0114
a0001c0001t0034g0126
a0001c0001t0069g0012
a0001c0001t0084g0046
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0098g0147
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0108g0148
a0001c0001t0110g0127
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0123g0123
a0001c0001t0128g0132
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0006c0012t0129g0140
 49 HG00423.hp2
HG00741.hp2
HG01081.hp2
others(46): Show 
HG00423.hp2
HG00741.hp2
HG01081.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp2
HG01361.hp2
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp2
HG01928.hp2
HG01978.hp2
HG02040.hp2
HG02056.hp2
HG02083.hp2
HG02109.hp2
HG02129.hp2
HG02132.hp2
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02602.hp2
HG02818.hp2
HG02895.hp1
HG03225.hp2
HG03492.hp2
HG03516.hp1
HG03688.hp2
HG04184.hp2
HG04199.hp2
NA18940.hp2
NA18945.hp2
NA18950.hp1
NA18961.hp1
NA18967.hp2
NA18978.hp2
NA18983.hp2
NA19009.hp2
NA19060.hp2
NA19065.hp2
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19079.hp2
NA19081.hp2
NA20300.hp2
 intron_variant MODIFIER c.1218+2030T>A
c.1218+2030T>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 599765
chr17:599770 AAAAAAC
AAAAAAC
 A
A
 8 a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
others(5): Show 
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
 8 HG02135.hp2
HG02602.hp1
NA18747.hp1
others(5): Show 
HG02135.hp2
HG02602.hp1
NA18747.hp1
NA18955.hp2
NA18960.hp2
NA18994.hp2
NA19000.hp2
NA19010.hp2
 intron_variant MODIFIER c.1218+2019_1218+202
others(10): Show 
c.1218+2019_1218+2024delGTTTTT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 599770
chr17:599772 AAAAC
AAAAC
 A
A
 26 a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
others(23): Show 
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
 26 HG01257.hp2
HG01516.hp2
HG01517.hp1
others(23): Show 
HG01257.hp2
HG01516.hp2
HG01517.hp1
HG02109.hp1
HG03831.hp2
NA18612.hp2
NA18906.hp1
NA18945.hp1
NA18950.hp2
NA18959.hp1
NA18961.hp2
NA18962.hp1
NA18977.hp1
NA18978.hp1
NA18986.hp2
NA18990.hp1
NA18994.hp1
NA19011.hp2
NA19060.hp1
NA19064.hp1
NA19068.hp1
NA19080.hp1
NA19087.hp2
NA19091.hp2
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.1218+2019_1218+202
others(8): Show 
c.1218+2019_1218+2022delGTTT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 599772
chr17:599773 AAAC
AAAC
 A
A
 7 a0002c0003t0009g0186
a0002c0003t0017g0179
a0002c0003t0093g0173
others(4): Show 
a0002c0003t0009g0186
a0002c0003t0017g0179
a0002c0003t0093g0173
a0002c0003t0139g0167
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
 7 HG01167.hp1
HG02040.hp1
NA18946.hp1
others(4): Show 
HG01167.hp1
HG02040.hp1
NA18946.hp1
NA18955.hp1
NA18957.hp2
NA18983.hp1
NA19066.hp2
 intron_variant MODIFIER c.1218+2019_1218+202
others(7): Show 
c.1218+2019_1218+2021delGTT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 599773
chr17:599774 AAC
AAC
 A
A
 48 a0001c0002t0017g0225
a0001c0002t0035g0219
a0001c0002t0038g0224
others(45): Show 
a0001c0002t0017g0225
a0001c0002t0035g0219
a0001c0002t0038g0224
a0001c0002t0050g0049
a0001c0002t0086g0221
a0001c0002t0100g0223
a0001c0002t0109g0222
a0001c0002t0125g0116
a0001c0002t0143g0226
a0001c0002t0149g0202
a0001c0014t0135g0166
a0001c0015t0126g0149
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0018g0231
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0085g0184
a0002c0003t0089g0175
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0099g0192
a0002c0003t0104g0208
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0145g0187
a0002c0003t0146g0170
a0002c0003t0148g0174
a0002c0003t0150g0191
a0004c0008t0035g0203
a0004c0008t0036g0207
a0004c0008t0103g0227
a0004c0008t0124g0229
a0004c0008t0133g0232
a0004c0008t0142g0228
 48 HG00099.hp1
HG00140.hp1
HG00323.hp2
others(45): Show 
HG00099.hp1
HG00140.hp1
HG00323.hp2
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00621.hp1
HG01070.hp2
HG01071.hp1
HG01099.hp1
HG01346.hp1
HG01516.hp1
HG01928.hp1
HG01981.hp1
HG02056.hp1
HG02074.hp2
HG02083.hp1
HG02129.hp1
HG02132.hp1
HG02145.hp1
HG02280.hp1
HG02293.hp1
HG02300.hp1
HG02572.hp1
HG02723.hp1
HG02738.hp2
HG03491.hp2
HG03831.hp1
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04199.hp1
NA18612.hp1
NA18944.hp2
NA18973.hp2
NA18979.hp2
NA18986.hp1
NA18987.hp1
NA18990.hp2
NA19000.hp1
NA19007.hp2
NA19010.hp1
NA19011.hp1
NA19066.hp1
NA19074.hp1
NA19080.hp2
NA19084.hp2
NA19090.hp2
 intron_variant MODIFIER c.1218+2019_1218+202
others(6): Show 
c.1218+2019_1218+2020delGT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 599774
chr17:599775 ACAAAAAC
ACAAAAAC
 A
A
 2 a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0020g0005
a0001c0005t0020g0010
 2 NA19087.hp1
NA19091.hp1
NA19087.hp1
NA19091.hp1
 intron_variant MODIFIER c.1218+2013_1218+201
others(11): Show 
c.1218+2013_1218+2019delGTTTTTG
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 599775
chr17:599776 C
C
 A
A
 3 a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
 3 NA18747.hp2
NA18984.hp2
NA19064.hp2
NA18747.hp2
NA18984.hp2
NA19064.hp2
 intron_variant MODIFIER c.1218+2019G>T
c.1218+2019G>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 599776
chr17:599782 C
C
 A
A
 76 a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
others(73): Show 
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0017g0179
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0018g0231
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0085g0184
a0002c0003t0089g0175
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0099g0192
a0002c0003t0104g0208
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0145g0187
a0002c0003t0146g0170
a0002c0003t0148g0174
a0002c0003t0150g0191
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
a0004c0008t0036g0207
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
 76 HG00323.hp2
HG00423.hp1
HG00438.hp2
others(73): Show 
HG00323.hp2
HG00423.hp1
HG00438.hp2
HG00621.hp1
HG01070.hp2
HG01071.hp1
HG01099.hp1
HG01167.hp1
HG01257.hp2
HG01516.hp2
HG01517.hp1
HG01928.hp1
HG01981.hp1
HG02040.hp1
HG02056.hp1
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02109.hp1
HG02129.hp1
HG02132.hp1
HG02135.hp2
HG02293.hp1
HG02300.hp1
HG02602.hp1
HG02738.hp2
HG03491.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG04199.hp1
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18906.hp1
NA18945.hp1
NA18946.hp1
NA18950.hp2
NA18955.hp1
NA18955.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18960.hp2
NA18961.hp2
NA18962.hp1
NA18977.hp1
NA18978.hp1
NA18979.hp2
NA18983.hp1
NA18984.hp1
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18990.hp1
NA18994.hp1
NA18994.hp2
NA19000.hp1
NA19000.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp2
NA19060.hp1
NA19064.hp1
NA19066.hp2
NA19068.hp1
NA19074.hp1
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19084.hp2
NA19087.hp2
NA19090.hp2
NA19091.hp2
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.1218+2013G>T
c.1218+2013G>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 599782
chr17:599945 T
T
 C
C
 229 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(226): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0017g0158
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0032g0114
a0001c0001t0032g0204
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0034g0126
a0001c0001t0034g0162
a0001c0001t0069g0012
a0001c0001t0084g0046
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0097g0199
a0001c0001t0098g0147
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0105g0201
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0108g0148
a0001c0001t0110g0127
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0118g0195
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0122g0160
a0001c0001t0123g0123
a0001c0001t0127g0159
a0001c0001t0128g0132
a0001c0001t0134g0154
a0001c0001t0138g0161
a0001c0001t0141g0165
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0001g0094
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0017g0225
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0035g0219
a0001c0002t0038g0224
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0050g0049
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0065g0093
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0077g0095
a0001c0002t0078g0041
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0002t0086g0221
a0001c0002t0100g0223
a0001c0002t0109g0222
a0001c0002t0125g0116
a0001c0002t0143g0226
a0001c0002t0149g0202
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0001c0011t0051g0091
a0001c0014t0135g0166
a0001c0015t0126g0149
a0001c0016t0052g0099
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0017g0179
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0018g0231
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0073g0068
a0002c0003t0085g0184
a0002c0003t0089g0175
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0099g0192
a0002c0003t0104g0208
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0145g0187
a0002c0003t0146g0170
a0002c0003t0148g0174
a0002c0003t0150g0191
a0002c0010t0038g0156
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
a0004c0008t0035g0203
a0004c0008t0036g0207
a0004c0008t0103g0227
a0004c0008t0124g0229
a0004c0008t0133g0232
a0004c0008t0142g0228
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
a0006c0012t0129g0140
a0007c0013t0132g0163
 229 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(226): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00621.hp1
HG00621.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02056.hp1
HG02056.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18955.hp1
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18967.hp1
NA18967.hp2
NA18973.hp1
NA18973.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18990.hp1
NA18990.hp2
NA18994.hp1
NA18994.hp2
NA19000.hp1
NA19000.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19087.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1218+1850A>G
c.1218+1850A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 599945
chr17:600250 C
C
 T
T
 1 a0001c0015t0126g0149
a0001c0015t0126g0149
 1 HG02723.hp1
HG02723.hp1
 intron_variant MODIFIER c.1218+1545G>A
c.1218+1545G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 600250
chr17:600320 T
T
 G
G
 1 a0001c0002t0014g0077
a0001c0002t0014g0077
 1 NA18967.hp1
NA18967.hp1
 intron_variant MODIFIER c.1218+1475A>C
c.1218+1475A>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 600320
chr17:600354 G
G
 A
A
 30 a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
others(27): Show 
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
 30 HG01257.hp2
HG01516.hp2
HG01517.hp1
others(27): Show 
HG01257.hp2
HG01516.hp2
HG01517.hp1
HG02074.hp1
HG02109.hp1
HG03831.hp2
NA18612.hp2
NA18906.hp1
NA18945.hp1
NA18950.hp2
NA18957.hp1
NA18959.hp1
NA18961.hp2
NA18962.hp1
NA18977.hp1
NA18978.hp1
NA18984.hp1
NA18986.hp2
NA18990.hp1
NA18994.hp1
NA19011.hp2
NA19060.hp1
NA19064.hp1
NA19068.hp1
NA19080.hp1
NA19081.hp1
NA19087.hp2
NA19091.hp2
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.1218+1441C>T
c.1218+1441C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 600354
chr17:600489 G
G
 A
A
 13 a0001c0001t0017g0158
a0001c0001t0032g0204
a0001c0001t0033g0205
others(10): Show 
a0001c0001t0017g0158
a0001c0001t0032g0204
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0034g0162
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0122g0160
a0001c0001t0127g0159
a0001c0001t0138g0161
a0001c0001t0141g0165
a0002c0010t0038g0156
a0007c0013t0132g0163
 13 HG00741.hp1
HG01106.hp2
HG01109.hp1
others(10): Show 
HG00741.hp1
HG01106.hp2
HG01109.hp1
HG01257.hp1
HG01258.hp2
HG01891.hp1
HG02886.hp2
HG02895.hp2
HG02922.hp1
HG03225.hp1
HG04204.hp1
NA20129.hp1
NA21309.hp1
 intron_variant MODIFIER c.1218+1306C>T
c.1218+1306C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 600489
chr17:600518 C
C
 T
T
 1 a0002c0003t0148g0174
a0002c0003t0148g0174
 1 NA18979.hp2
NA18979.hp2
 intron_variant MODIFIER c.1218+1277G>A
c.1218+1277G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 600518
chr17:600519 G
G
 A
A
 42 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(39): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0034g0126
a0001c0001t0094g0129
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0110g0127
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0123g0123
a0001c0001t0128g0132
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0006c0012t0129g0140
 42 HG00423.hp2
HG00741.hp2
HG01081.hp2
others(39): Show 
HG00423.hp2
HG00741.hp2
HG01081.hp2
HG01175.hp2
HG01192.hp2
HG01255.hp2
HG01256.hp2
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp2
HG01928.hp2
HG01978.hp2
HG02040.hp2
HG02056.hp2
HG02083.hp2
HG02109.hp2
HG02129.hp2
HG02132.hp2
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02602.hp2
HG03492.hp2
HG03688.hp2
HG04184.hp2
HG04199.hp2
NA18940.hp2
NA18945.hp2
NA18950.hp1
NA18961.hp1
NA18967.hp2
NA18978.hp2
NA18983.hp2
NA18987.hp2
NA19009.hp2
NA19060.hp2
NA19065.hp2
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19081.hp2
 intron_variant MODIFIER c.1218+1276C>T
c.1218+1276C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 600519
chr17:600560 G
G
 A
A
 1 a0003c0004t0003g0036
a0003c0004t0003g0036
 1 HG02109.hp1
HG02109.hp1
 intron_variant MODIFIER c.1218+1235C>T
c.1218+1235C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 600560
chr17:600603 A
A
 C
C
 1 a0001c0007t0062g0104
a0001c0007t0062g0104
 1 HG02293.hp2
HG02293.hp2
 intron_variant MODIFIER c.1218+1192T>G
c.1218+1192T>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 600603
chr17:600648 A
A
 C
C
 38 a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
others(35): Show 
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0017g0179
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0018g0231
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0085g0184
a0002c0003t0089g0175
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0099g0192
a0002c0003t0104g0208
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0145g0187
a0002c0003t0146g0170
a0002c0003t0148g0174
a0002c0003t0150g0191
a0004c0008t0036g0207
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
 38 HG00323.hp2
HG00423.hp1
HG00438.hp2
others(35): Show 
HG00323.hp2
HG00423.hp1
HG00438.hp2
HG00621.hp1
HG01070.hp2
HG01071.hp1
HG01099.hp1
HG01167.hp1
HG01928.hp1
HG01981.hp1
HG02040.hp1
HG02056.hp1
HG02074.hp2
HG02083.hp1
HG02129.hp1
HG02132.hp1
HG02293.hp1
HG02300.hp1
HG02738.hp2
HG03491.hp2
HG03831.hp1
HG03942.hp1
HG04199.hp1
NA18612.hp1
NA18946.hp1
NA18955.hp1
NA18957.hp2
NA18979.hp2
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA19000.hp1
NA19010.hp1
NA19066.hp2
NA19074.hp1
NA19080.hp2
NA19084.hp2
NA19090.hp2
 intron_variant MODIFIER c.1218+1147T>G
c.1218+1147T>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 600648
chr17:600978 T
T
 C
C
 125 a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
others(122): Show 
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0084g0046
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0097g0199
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0105g0201
a0001c0001t0118g0195
a0001c0001t0134g0154
a0001c0002t0001g0094
a0001c0002t0017g0225
a0001c0002t0035g0219
a0001c0002t0038g0224
a0001c0002t0050g0049
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0002t0086g0221
a0001c0002t0100g0223
a0001c0002t0109g0222
a0001c0002t0125g0116
a0001c0002t0143g0226
a0001c0002t0149g0202
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0011t0051g0091
a0001c0014t0135g0166
a0001c0015t0126g0149
a0001c0016t0052g0099
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0017g0179
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0018g0231
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0085g0184
a0002c0003t0089g0175
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0099g0192
a0002c0003t0104g0208
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0145g0187
a0002c0003t0146g0170
a0002c0003t0148g0174
a0002c0003t0150g0191
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
a0004c0008t0035g0203
a0004c0008t0036g0207
a0004c0008t0103g0227
a0004c0008t0124g0229
a0004c0008t0133g0232
a0004c0008t0142g0228
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
 125 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(122): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00621.hp1
HG01070.hp2
HG01071.hp1
HG01074.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp2
HG01167.hp1
HG01168.hp2
HG01175.hp1
HG01257.hp2
HG01346.hp1
HG01346.hp2
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01891.hp2
HG01928.hp1
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02056.hp1
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02109.hp1
HG02129.hp1
HG02132.hp1
HG02135.hp2
HG02145.hp1
HG02280.hp1
HG02293.hp1
HG02300.hp1
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02622.hp1
HG02622.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp2
HG02818.hp1
HG02922.hp2
HG03139.hp1
HG03139.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03516.hp1
HG03688.hp1
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04199.hp1
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18944.hp2
NA18945.hp1
NA18946.hp1
NA18948.hp1
NA18950.hp2
NA18955.hp1
NA18955.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18960.hp2
NA18961.hp2
NA18962.hp1
NA18973.hp2
NA18977.hp1
NA18978.hp1
NA18979.hp2
NA18983.hp1
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18990.hp1
NA18990.hp2
NA18994.hp1
NA18994.hp2
NA19000.hp1
NA19000.hp2
NA19007.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19060.hp1
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19074.hp1
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19084.hp2
NA19087.hp1
NA19087.hp2
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA20129.hp2
NA20300.hp1
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.1218+817A>G
c.1218+817A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 600978
chr17:601104 A
A
 T
T
 1 a0001c0002t0014g0074
a0001c0002t0014g0074
 1 HG01255.hp1
HG01255.hp1
 intron_variant MODIFIER c.1218+691T>A
c.1218+691T>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 601104
chr17:601219 A
A
 G
G
 53 a0001c0002t0017g0225
a0001c0002t0035g0219
a0001c0002t0038g0224
others(50): Show 
a0001c0002t0017g0225
a0001c0002t0035g0219
a0001c0002t0038g0224
a0001c0002t0050g0049
a0001c0002t0086g0221
a0001c0002t0100g0223
a0001c0002t0109g0222
a0001c0002t0125g0116
a0001c0002t0143g0226
a0001c0002t0149g0202
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0017g0179
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0018g0231
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0085g0184
a0002c0003t0089g0175
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0099g0192
a0002c0003t0104g0208
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0145g0187
a0002c0003t0146g0170
a0002c0003t0148g0174
a0002c0003t0150g0191
a0004c0008t0035g0203
a0004c0008t0036g0207
a0004c0008t0103g0227
a0004c0008t0124g0229
a0004c0008t0133g0232
a0004c0008t0142g0228
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
 53 HG00099.hp1
HG00140.hp1
HG00323.hp2
others(50): Show 
HG00099.hp1
HG00140.hp1
HG00323.hp2
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00621.hp1
HG01070.hp2
HG01071.hp1
HG01099.hp1
HG01167.hp1
HG01346.hp1
HG01516.hp1
HG01928.hp1
HG01981.hp1
HG02040.hp1
HG02056.hp1
HG02074.hp2
HG02083.hp1
HG02129.hp1
HG02132.hp1
HG02145.hp1
HG02280.hp1
HG02293.hp1
HG02300.hp1
HG02738.hp2
HG03491.hp2
HG03831.hp1
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04199.hp1
NA18612.hp1
NA18944.hp2
NA18946.hp1
NA18955.hp1
NA18957.hp2
NA18973.hp2
NA18979.hp2
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA18990.hp2
NA19000.hp1
NA19007.hp2
NA19010.hp1
NA19011.hp1
NA19066.hp1
NA19066.hp2
NA19074.hp1
NA19080.hp2
NA19084.hp2
NA19090.hp2
 intron_variant MODIFIER c.1218+576T>C
c.1218+576T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 601219
chr17:601326 G
G
 T
T
 1 a0002c0003t0099g0192
a0002c0003t0099g0192
 1 HG00438.hp2
HG00438.hp2
 intron_variant MODIFIER c.1218+469C>A
c.1218+469C>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 601326
chr17:601367 C
C
 G
G
 2 a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0075g0051
a0001c0002t0076g0050
 2 NA18973.hp1
NA19070.hp1
NA18973.hp1
NA19070.hp1
 intron_variant MODIFIER c.1218+428G>C
c.1218+428G>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 601367
chr17:601414 G
G
 C
C
 1 a0001c0005t0042g0044
a0001c0005t0042g0044
 1 NA19000.hp2
NA19000.hp2
 intron_variant MODIFIER c.1218+381C>G
c.1218+381C>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 601414
chr17:601648 T
T
 C
C
 4 a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
others(1): Show 
a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0011t0051g0091
 4 HG01074.hp2
NA18747.hp2
NA18984.hp2
others(1): Show 
HG01074.hp2
NA18747.hp2
NA18984.hp2
NA19064.hp2
 intron_variant MODIFIER c.1218+147A>G
c.1218+147A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 601648
chr17:601738 C
C
 G
G
 11 a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
others(8): Show 
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0016t0052g0099
 11 HG00099.hp2
HG00280.hp2
HG01099.hp2
others(8): Show 
HG00099.hp2
HG00280.hp2
HG01099.hp2
HG01168.hp2
HG01175.hp1
HG01515.hp2
HG01981.hp2
HG03491.hp1
HG03492.hp1
HG03688.hp1
NA18948.hp1
 intron_variant MODIFIER c.1218+57G>C
c.1218+57G>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 12/21 chr17 601738
chr17:601899 G
G
 A
A
 16 a0001c0002t0017g0225
a0001c0002t0035g0219
a0001c0002t0038g0224
others(13): Show 
a0001c0002t0017g0225
a0001c0002t0035g0219
a0001c0002t0038g0224
a0001c0002t0086g0221
a0001c0002t0100g0223
a0001c0002t0109g0222
a0001c0002t0125g0116
a0001c0002t0143g0226
a0001c0002t0149g0202
a0003c0004t0004g0014
a0004c0008t0035g0203
a0004c0008t0036g0207
a0004c0008t0103g0227
a0004c0008t0124g0229
a0004c0008t0133g0232
a0004c0008t0142g0228
 16 HG00099.hp1
HG00140.hp1
HG00423.hp1
others(13): Show 
HG00099.hp1
HG00140.hp1
HG00423.hp1
HG00438.hp1
HG01346.hp1
HG01516.hp1
HG02145.hp1
HG03942.hp2
HG04184.hp1
NA18944.hp2
NA18957.hp1
NA18973.hp2
NA18990.hp2
NA19007.hp2
NA19011.hp1
NA19066.hp1
 splice_region_variant&intron_variant LOW c.1117-3C>T
c.1117-3C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 601899
chr17:601922 A
A
 G
G
 224 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(221): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0017g0158
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0032g0114
a0001c0001t0032g0204
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0034g0126
a0001c0001t0034g0162
a0001c0001t0069g0012
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0097g0199
a0001c0001t0098g0147
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0105g0201
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0108g0148
a0001c0001t0110g0127
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0118g0195
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0122g0160
a0001c0001t0123g0123
a0001c0001t0127g0159
a0001c0001t0128g0132
a0001c0001t0134g0154
a0001c0001t0138g0161
a0001c0001t0141g0165
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0017g0225
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0035g0219
a0001c0002t0038g0224
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0050g0049
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0002t0086g0221
a0001c0002t0100g0223
a0001c0002t0109g0222
a0001c0002t0125g0116
a0001c0002t0143g0226
a0001c0002t0149g0202
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0001c0014t0135g0166
a0001c0015t0126g0149
a0001c0016t0052g0099
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0017g0179
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0018g0231
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0073g0068
a0002c0003t0085g0184
a0002c0003t0089g0175
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0099g0192
a0002c0003t0104g0208
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0145g0187
a0002c0003t0146g0170
a0002c0003t0148g0174
a0002c0003t0150g0191
a0002c0010t0038g0156
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
a0004c0008t0035g0203
a0004c0008t0036g0207
a0004c0008t0103g0227
a0004c0008t0124g0229
a0004c0008t0133g0232
a0004c0008t0142g0228
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
a0006c0012t0129g0140
a0007c0013t0132g0163
 224 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(221): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00621.hp1
HG00621.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02056.hp1
HG02056.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18955.hp1
NA18955.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18967.hp1
NA18967.hp2
NA18973.hp1
NA18973.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18990.hp1
NA18990.hp2
NA18994.hp1
NA18994.hp2
NA19000.hp1
NA19000.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19087.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1117-26T>C
c.1117-26T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 601922
chr17:601987 G
G
 C
C
 111 a0001c0001t0016g0125
a0001c0001t0017g0158
a0001c0001t0031g0153
others(108): Show 
a0001c0001t0016g0125
a0001c0001t0017g0158
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0032g0204
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0034g0162
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0122g0160
a0001c0001t0127g0159
a0001c0001t0134g0154
a0001c0001t0138g0161
a0001c0001t0141g0165
a0001c0002t0001g0094
a0001c0002t0017g0225
a0001c0002t0035g0219
a0001c0002t0038g0224
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0002t0078g0041
a0001c0002t0086g0221
a0001c0002t0100g0223
a0001c0002t0109g0222
a0001c0002t0125g0116
a0001c0002t0143g0226
a0001c0002t0149g0202
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0011t0051g0091
a0001c0014t0135g0166
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0017g0179
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0085g0184
a0002c0003t0089g0175
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0099g0192
a0002c0003t0104g0208
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0145g0187
a0002c0003t0146g0170
a0002c0003t0148g0174
a0002c0003t0150g0191
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
a0004c0008t0035g0203
a0004c0008t0036g0207
a0004c0008t0103g0227
a0004c0008t0124g0229
a0004c0008t0133g0232
a0004c0008t0142g0228
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
 111 HG00099.hp1
HG00140.hp1
HG00323.hp2
others(108): Show 
HG00099.hp1
HG00140.hp1
HG00323.hp2
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00621.hp1
HG00741.hp1
HG01070.hp2
HG01071.hp1
HG01074.hp2
HG01099.hp1
HG01106.hp2
HG01109.hp1
HG01257.hp1
HG01257.hp2
HG01258.hp2
HG01346.hp1
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01981.hp1
HG02040.hp1
HG02056.hp1
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02109.hp1
HG02129.hp1
HG02132.hp1
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02293.hp1
HG02300.hp1
HG02572.hp1
HG02602.hp1
HG02738.hp2
HG02886.hp2
HG02895.hp2
HG02922.hp1
HG03225.hp1
HG03491.hp2
HG03516.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp2
HG04184.hp1
HG04199.hp1
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18944.hp2
NA18945.hp1
NA18946.hp1
NA18950.hp2
NA18955.hp1
NA18955.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18960.hp2
NA18961.hp2
NA18962.hp1
NA18973.hp2
NA18977.hp1
NA18978.hp1
NA18979.hp2
NA18983.hp1
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18990.hp1
NA18990.hp2
NA18994.hp1
NA18994.hp2
NA19000.hp1
NA19000.hp2
NA19007.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19060.hp1
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19074.hp1
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19084.hp2
NA19087.hp1
NA19087.hp2
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.1117-91C>G
c.1117-91C>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 601987
chr17:602009 T
T
 C
C
 40 a0001c0001t0017g0158
a0001c0001t0034g0162
a0001c0001t0084g0046
others(37): Show 
a0001c0001t0017g0158
a0001c0001t0034g0162
a0001c0001t0084g0046
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0122g0160
a0001c0001t0127g0159
a0001c0001t0138g0161
a0001c0001t0141g0165
a0001c0014t0135g0166
a0002c0003t0093g0173
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0007c0013t0132g0163
 40 HG00741.hp1
HG01106.hp2
HG01109.hp1
others(37): Show 
HG00741.hp1
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01257.hp1
HG01257.hp2
HG01258.hp2
HG01516.hp2
HG01517.hp1
HG01891.hp1
HG02074.hp1
HG02572.hp1
HG02895.hp2
HG03516.hp1
HG03831.hp2
HG04204.hp1
NA18612.hp2
NA18906.hp1
NA18945.hp1
NA18950.hp2
NA18957.hp1
NA18959.hp1
NA18961.hp2
NA18962.hp1
NA18977.hp1
NA18978.hp1
NA18984.hp1
NA18986.hp2
NA18990.hp1
NA18994.hp1
NA19011.hp2
NA19060.hp1
NA19064.hp1
NA19068.hp1
NA19080.hp1
NA19081.hp1
NA19087.hp2
NA19091.hp2
NA20129.hp1
NA20805.hp1
 intron_variant MODIFIER c.1117-113A>G
c.1117-113A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 602009
chr17:602009 TAAA
TAAA
 T
T
 14 a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
others(11): Show 
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0097g0199
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0105g0201
a0001c0001t0118g0195
a0001c0001t0134g0154
 14 HG01109.hp2
HG01346.hp2
HG01884.hp1
others(11): Show 
HG01109.hp2
HG01346.hp2
HG01884.hp1
HG01891.hp2
HG02572.hp2
HG02622.hp1
HG02622.hp2
HG02723.hp2
HG02818.hp1
HG02922.hp2
HG03139.hp1
HG03139.hp2
NA20129.hp2
NA20300.hp1
 intron_variant MODIFIER c.1117-116_1117-114d
others(5): Show 
c.1117-116_1117-114delTTT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 602009
chr17:602010 A
A
 G
G
 201 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(198): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0017g0158
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0032g0114
a0001c0001t0032g0204
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0034g0126
a0001c0001t0034g0162
a0001c0001t0069g0012
a0001c0001t0084g0046
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0098g0147
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0108g0148
a0001c0001t0110g0127
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0122g0160
a0001c0001t0123g0123
a0001c0001t0127g0159
a0001c0001t0128g0132
a0001c0001t0138g0161
a0001c0001t0141g0165
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0001g0094
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0017g0225
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0035g0219
a0001c0002t0038g0224
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0050g0049
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0078g0041
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0002t0086g0221
a0001c0002t0100g0223
a0001c0002t0109g0222
a0001c0002t0125g0116
a0001c0002t0143g0226
a0001c0002t0149g0202
a0001c0005t0042g0044
a0001c0006t0001g0113
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0001c0014t0135g0166
a0001c0015t0126g0149
a0001c0016t0052g0099
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0017g0179
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0018g0231
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0073g0068
a0002c0003t0085g0184
a0002c0003t0089g0175
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0099g0192
a0002c0003t0104g0208
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0145g0187
a0002c0003t0146g0170
a0002c0003t0148g0174
a0002c0003t0150g0191
a0002c0010t0038g0156
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
a0004c0008t0035g0203
a0004c0008t0036g0207
a0004c0008t0103g0227
a0004c0008t0124g0229
a0004c0008t0133g0232
a0004c0008t0142g0228
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
a0006c0012t0129g0140
a0007c0013t0132g0163
 201 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(198): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00621.hp1
HG00621.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01361.hp1
HG01361.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp2
HG01891.hp1
HG01928.hp1
HG01928.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02056.hp1
HG02056.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02145.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02572.hp1
HG02602.hp2
HG02723.hp1
HG02738.hp1
HG02738.hp2
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG03225.hp1
HG03225.hp2
HG03491.hp2
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18955.hp1
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18967.hp1
NA18967.hp2
NA18973.hp1
NA18973.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18990.hp1
NA18990.hp2
NA18994.hp1
NA19000.hp1
NA19000.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19011.hp1
NA19011.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp2
NA20129.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1117-114T>C
c.1117-114T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 602010
chr17:602044 G
G
 A
A
 3 a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0084g0046
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0084g0046
 3 HG01884.hp2
HG02280.hp2
HG03516.hp1
HG01884.hp2
HG02280.hp2
HG03516.hp1
 intron_variant MODIFIER c.1117-148C>T
c.1117-148C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 602044
chr17:602050 G
G
 A
A
 34 a0001c0001t0002g0137
a0001c0001t0016g0124
a0001c0001t0110g0127
others(31): Show 
a0001c0001t0002g0137
a0001c0001t0016g0124
a0001c0001t0110g0127
a0001c0001t0123g0123
a0001c0002t0014g0077
a0001c0002t0022g0085
a0001c0005t0019g0006
a0001c0005t0042g0044
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0023g0107
a0001c0007t0023g0109
a0003c0004t0003g0015
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0025g0038
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
a0004c0008t0124g0229
 34 HG01192.hp2
HG01257.hp2
HG01496.hp2
others(31): Show 
HG01192.hp2
HG01257.hp2
HG01496.hp2
HG01516.hp2
HG01517.hp1
HG01928.hp2
HG02074.hp1
HG02109.hp1
HG02300.hp2
HG03831.hp2
NA18612.hp2
NA18906.hp1
NA18940.hp1
NA18945.hp1
NA18962.hp1
NA18967.hp1
NA18978.hp1
NA18984.hp1
NA18990.hp1
NA18990.hp2
NA19000.hp2
NA19009.hp2
NA19010.hp2
NA19011.hp2
NA19060.hp1
NA19064.hp1
NA19065.hp2
NA19068.hp1
NA19068.hp2
NA19080.hp1
NA19081.hp1
NA19081.hp2
NA19091.hp2
NA21309.hp2
 intron_variant MODIFIER c.1117-154C>T
c.1117-154C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 602050
chr17:602061 G
G
 A
A
 14 a0001c0001t0123g0123
a0001c0002t0001g0094
a0001c0002t0065g0093
others(11): Show 
a0001c0001t0123g0123
a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0005t0010g0008
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0006t0021g0100
a0001c0006t0021g0101
 14 HG02135.hp2
HG02602.hp1
HG03491.hp1
others(11): Show 
HG02135.hp2
HG02602.hp1
HG03491.hp1
HG03492.hp1
NA18747.hp1
NA18747.hp2
NA18955.hp2
NA18960.hp2
NA18984.hp2
NA18994.hp2
NA19064.hp2
NA19081.hp2
NA19087.hp1
NA19091.hp1
 intron_variant MODIFIER c.1117-165C>T
c.1117-165C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 602061
chr17:602070 C
C
 A
A
 72 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(69): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0032g0204
a0001c0001t0034g0126
a0001c0001t0069g0012
a0001c0001t0107g0212
a0001c0001t0110g0127
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0119g0144
a0001c0001t0123g0123
a0001c0001t0127g0159
a0001c0002t0001g0056
a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0077g0095
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0003c0004t0003g0015
a0003c0004t0003g0036
a0003c0004t0004g0014
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0081g0035
a0006c0012t0129g0140
 72 HG01081.hp2
HG01167.hp2
HG01175.hp2
others(69): Show 
HG01081.hp2
HG01167.hp2
HG01175.hp2
HG01192.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp2
HG01361.hp2
HG01496.hp2
HG01891.hp1
HG01928.hp2
HG01978.hp2
HG02040.hp2
HG02083.hp2
HG02109.hp1
HG02129.hp2
HG02132.hp2
HG02135.hp2
HG02293.hp2
HG02300.hp2
HG02602.hp1
HG02602.hp2
HG02895.hp2
HG02922.hp1
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03688.hp2
HG03831.hp2
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18940.hp2
NA18945.hp1
NA18945.hp2
NA18955.hp2
NA18957.hp1
NA18959.hp1
NA18960.hp2
NA18961.hp2
NA18967.hp2
NA18973.hp1
NA18977.hp1
NA18978.hp1
NA18978.hp2
NA18983.hp2
NA18984.hp2
NA18986.hp2
NA18987.hp2
NA18990.hp1
NA18994.hp2
NA19000.hp2
NA19009.hp2
NA19010.hp2
NA19011.hp2
NA19060.hp1
NA19064.hp2
NA19065.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp2
NA19079.hp2
NA19080.hp1
NA19081.hp1
NA19081.hp2
NA19087.hp1
NA19091.hp1
NA19091.hp2
NA20129.hp1
NA21309.hp2
 intron_variant MODIFIER c.1117-174G>T
c.1117-174G>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 602070
chr17:602157 G
G
 A
A
 1 a0002c0003t0037g0115
a0002c0003t0037g0115
 1 NA18986.hp1
NA18986.hp1
 intron_variant MODIFIER c.1117-261C>T
c.1117-261C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 602157
chr17:602283 C
C
 A
A
 1 a0001c0006t0057g0103
a0001c0006t0057g0103
 1 HG00280.hp2
HG00280.hp2
 intron_variant MODIFIER c.1117-387G>T
c.1117-387G>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 602283
chr17:602531 C
C
 G
G
 50 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(47): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0032g0114
a0001c0001t0034g0126
a0001c0001t0069g0012
a0001c0001t0084g0046
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0098g0147
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0108g0148
a0001c0001t0110g0127
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0123g0123
a0001c0001t0128g0132
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0006c0012t0129g0140
 50 HG00423.hp2
HG00741.hp2
HG01081.hp2
others(47): Show 
HG00423.hp2
HG00741.hp2
HG01081.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp2
HG01361.hp2
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp2
HG01928.hp2
HG01978.hp2
HG02040.hp2
HG02056.hp2
HG02083.hp2
HG02109.hp2
HG02129.hp2
HG02132.hp2
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02602.hp2
HG02818.hp2
HG02895.hp1
HG03225.hp2
HG03492.hp2
HG03516.hp1
HG03688.hp2
HG04184.hp2
HG04199.hp2
NA18940.hp2
NA18945.hp2
NA18950.hp1
NA18961.hp1
NA18967.hp2
NA18978.hp2
NA18983.hp2
NA18987.hp2
NA19009.hp2
NA19060.hp2
NA19065.hp2
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19079.hp2
NA19081.hp2
NA20300.hp2
 intron_variant MODIFIER c.1117-635G>C
c.1117-635G>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 602531
chr17:602614 G
G
 A
A
 1 a0001c0002t0005g0065
a0001c0002t0005g0065
 1 NA18948.hp2
NA18948.hp2
 intron_variant MODIFIER c.1117-718C>T
c.1117-718C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 602614
chr17:602629 C
C
 T
T
 13 a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
others(10): Show 
a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
 13 HG02135.hp2
HG02602.hp1
NA18747.hp1
others(10): Show 
HG02135.hp2
HG02602.hp1
NA18747.hp1
NA18747.hp2
NA18955.hp2
NA18960.hp2
NA18984.hp2
NA18994.hp2
NA19000.hp2
NA19010.hp2
NA19064.hp2
NA19087.hp1
NA19091.hp1
 intron_variant MODIFIER c.1117-733G>A
c.1117-733G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 602629
chr17:602630 G
G
 A
A
 52 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(49): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0032g0114
a0001c0001t0034g0126
a0001c0001t0069g0012
a0001c0001t0084g0046
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0098g0147
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0108g0148
a0001c0001t0110g0127
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0123g0123
a0001c0001t0128g0132
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0001c0014t0135g0166
a0001c0015t0126g0149
a0006c0012t0129g0140
 52 HG00423.hp2
HG00741.hp2
HG01081.hp2
others(49): Show 
HG00423.hp2
HG00741.hp2
HG01081.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp2
HG01361.hp2
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp2
HG01928.hp2
HG01978.hp2
HG02040.hp2
HG02056.hp2
HG02083.hp2
HG02109.hp2
HG02129.hp2
HG02132.hp2
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02572.hp1
HG02602.hp2
HG02723.hp1
HG02818.hp2
HG02895.hp1
HG03225.hp2
HG03492.hp2
HG03516.hp1
HG03688.hp2
HG04184.hp2
HG04199.hp2
NA18940.hp2
NA18945.hp2
NA18950.hp1
NA18961.hp1
NA18967.hp2
NA18978.hp2
NA18983.hp2
NA18987.hp2
NA19009.hp2
NA19060.hp2
NA19065.hp2
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19079.hp2
NA19081.hp2
NA20300.hp2
 intron_variant MODIFIER c.1117-734C>T
c.1117-734C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 602630
chr17:602682 A
A
 C
C
 10 a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
others(7): Show 
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
 10 HG02135.hp2
HG02602.hp1
NA18747.hp1
others(7): Show 
HG02135.hp2
HG02602.hp1
NA18747.hp1
NA18955.hp2
NA18960.hp2
NA18994.hp2
NA19000.hp2
NA19010.hp2
NA19087.hp1
NA19091.hp1
 intron_variant MODIFIER c.1117-786T>G
c.1117-786T>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 602682
chr17:602923 C
C
 T
T
 96 a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
others(93): Show 
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0001g0094
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0065g0093
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0077g0095
a0001c0002t0078g0041
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0011t0051g0091
a0001c0016t0052g0099
a0002c0003t0073g0068
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
 96 HG00099.hp2
HG00140.hp2
HG00280.hp1
others(93): Show 
HG00099.hp2
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01099.hp2
HG01106.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01255.hp1
HG01256.hp1
HG01257.hp2
HG01258.hp1
HG01361.hp1
HG01496.hp1
HG01515.hp2
HG01516.hp2
HG01517.hp1
HG01978.hp1
HG01981.hp2
HG02074.hp1
HG02109.hp1
HG02135.hp1
HG02135.hp2
HG02602.hp1
HG02738.hp1
HG02886.hp1
HG03491.hp1
HG03492.hp1
HG03516.hp2
HG03688.hp1
HG03831.hp2
HG04204.hp2
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18944.hp1
NA18945.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp2
NA18955.hp2
NA18957.hp1
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp2
NA18962.hp1
NA18967.hp1
NA18973.hp1
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18979.hp1
NA18984.hp1
NA18984.hp2
NA18986.hp2
NA18990.hp1
NA18994.hp1
NA18994.hp2
NA19000.hp2
NA19007.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp2
NA19060.hp1
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19068.hp1
NA19070.hp1
NA19079.hp1
NA19080.hp1
NA19081.hp1
NA19084.hp1
NA19087.hp1
NA19087.hp2
NA19090.hp1
NA19091.hp1
NA19091.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1117-1027G>A
c.1117-1027G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 602923
chr17:602995 G
G
 A
A
 230 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(227): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0017g0158
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0032g0114
a0001c0001t0032g0204
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0034g0126
a0001c0001t0034g0162
a0001c0001t0069g0012
a0001c0001t0084g0046
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0097g0199
a0001c0001t0098g0147
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0105g0201
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0108g0148
a0001c0001t0110g0127
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0118g0195
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0122g0160
a0001c0001t0123g0123
a0001c0001t0127g0159
a0001c0001t0128g0132
a0001c0001t0134g0154
a0001c0001t0138g0161
a0001c0001t0141g0165
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0001g0094
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0017g0225
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0035g0219
a0001c0002t0038g0224
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0050g0049
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0065g0093
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0077g0095
a0001c0002t0078g0041
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0002t0086g0221
a0001c0002t0100g0223
a0001c0002t0109g0222
a0001c0002t0125g0116
a0001c0002t0143g0226
a0001c0002t0149g0202
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0001c0011t0051g0091
a0001c0014t0135g0166
a0001c0015t0126g0149
a0001c0016t0052g0099
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0017g0179
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0018g0231
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0073g0068
a0002c0003t0085g0184
a0002c0003t0089g0175
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0099g0192
a0002c0003t0104g0208
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0145g0187
a0002c0003t0146g0170
a0002c0003t0148g0174
a0002c0003t0150g0191
a0002c0010t0038g0156
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
a0004c0008t0035g0203
a0004c0008t0036g0207
a0004c0008t0103g0227
a0004c0008t0124g0229
a0004c0008t0133g0232
a0004c0008t0142g0228
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
a0006c0012t0129g0140
a0007c0013t0132g0163
 230 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(227): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00621.hp1
HG00621.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02056.hp1
HG02056.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18955.hp1
NA18955.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18967.hp1
NA18967.hp2
NA18973.hp1
NA18973.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18990.hp1
NA18990.hp2
NA18994.hp1
NA18994.hp2
NA19000.hp1
NA19000.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19087.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1117-1099C>T
c.1117-1099C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 602995
chr17:603199 G
G
 A
A
 1 a0001c0001t0084g0046
a0001c0001t0084g0046
 1 HG03516.hp1
HG03516.hp1
 intron_variant MODIFIER c.1117-1303C>T
c.1117-1303C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 603199
chr17:603472 C
C
 T
T
 1 a0001c0002t0048g0089
a0001c0002t0048g0089
 1 NA19090.hp1
NA19090.hp1
 intron_variant MODIFIER c.1117-1576G>A
c.1117-1576G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 603472
chr17:603568 A
A
 G
G
 14 a0001c0002t0017g0225
a0001c0002t0035g0219
a0001c0002t0038g0224
others(11): Show 
a0001c0002t0017g0225
a0001c0002t0035g0219
a0001c0002t0038g0224
a0001c0002t0086g0221
a0001c0002t0100g0223
a0001c0002t0109g0222
a0001c0002t0125g0116
a0001c0002t0143g0226
a0001c0002t0149g0202
a0004c0008t0035g0203
a0004c0008t0103g0227
a0004c0008t0124g0229
a0004c0008t0133g0232
a0004c0008t0142g0228
 14 HG00099.hp1
HG00140.hp1
HG00438.hp1
others(11): Show 
HG00099.hp1
HG00140.hp1
HG00438.hp1
HG01346.hp1
HG01516.hp1
HG02145.hp1
HG03942.hp2
HG04184.hp1
NA18944.hp2
NA18973.hp2
NA18990.hp2
NA19007.hp2
NA19011.hp1
NA19066.hp1
 intron_variant MODIFIER c.1117-1672T>C
c.1117-1672T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 603568
chr17:603576 G
G
 A
A
 1 a0001c0002t0078g0041
a0001c0002t0078g0041
 1 HG03516.hp2
HG03516.hp2
 intron_variant MODIFIER c.1117-1680C>T
c.1117-1680C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 603576
chr17:603591 CT
CT
 C
C
 11 a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
others(8): Show 
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0016t0052g0099
 11 HG00099.hp2
HG00280.hp2
HG01099.hp2
others(8): Show 
HG00099.hp2
HG00280.hp2
HG01099.hp2
HG01168.hp2
HG01175.hp1
HG01515.hp2
HG01981.hp2
HG03491.hp1
HG03492.hp1
HG03688.hp1
NA18948.hp1
 intron_variant MODIFIER c.1117-1696delA
c.1117-1696delA
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 603591
chr17:603798 G
G
 A
A
 50 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(47): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0032g0114
a0001c0001t0034g0126
a0001c0001t0069g0012
a0001c0001t0084g0046
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0098g0147
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0108g0148
a0001c0001t0110g0127
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0123g0123
a0001c0001t0128g0132
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0006c0012t0129g0140
 50 HG00423.hp2
HG00741.hp2
HG01081.hp2
others(47): Show 
HG00423.hp2
HG00741.hp2
HG01081.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp2
HG01361.hp2
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp2
HG01928.hp2
HG01978.hp2
HG02040.hp2
HG02056.hp2
HG02083.hp2
HG02109.hp2
HG02129.hp2
HG02132.hp2
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02602.hp2
HG02818.hp2
HG02895.hp1
HG03225.hp2
HG03492.hp2
HG03516.hp1
HG03688.hp2
HG04184.hp2
HG04199.hp2
NA18940.hp2
NA18945.hp2
NA18950.hp1
NA18961.hp1
NA18967.hp2
NA18978.hp2
NA18983.hp2
NA18987.hp2
NA19009.hp2
NA19060.hp2
NA19065.hp2
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19079.hp2
NA19081.hp2
NA20300.hp2
 intron_variant MODIFIER c.1117-1902C>T
c.1117-1902C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 603798
chr17:603875 A
A
 T
T
 50 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(47): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0032g0114
a0001c0001t0034g0126
a0001c0001t0069g0012
a0001c0001t0084g0046
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0098g0147
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0108g0148
a0001c0001t0110g0127
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0123g0123
a0001c0001t0128g0132
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0006c0012t0129g0140
 50 HG00423.hp2
HG00741.hp2
HG01081.hp2
others(47): Show 
HG00423.hp2
HG00741.hp2
HG01081.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp2
HG01361.hp2
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp2
HG01928.hp2
HG01978.hp2
HG02040.hp2
HG02056.hp2
HG02083.hp2
HG02109.hp2
HG02129.hp2
HG02132.hp2
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02602.hp2
HG02818.hp2
HG02895.hp1
HG03225.hp2
HG03492.hp2
HG03516.hp1
HG03688.hp2
HG04184.hp2
HG04199.hp2
NA18940.hp2
NA18945.hp2
NA18950.hp1
NA18961.hp1
NA18967.hp2
NA18978.hp2
NA18983.hp2
NA18987.hp2
NA19009.hp2
NA19060.hp2
NA19065.hp2
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19079.hp2
NA19081.hp2
NA20300.hp2
 intron_variant MODIFIER c.1117-1979T>A
c.1117-1979T>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 603875
chr17:603876 C
C
 T
T
 50 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(47): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0032g0114
a0001c0001t0034g0126
a0001c0001t0069g0012
a0001c0001t0084g0046
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0098g0147
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0108g0148
a0001c0001t0110g0127
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0123g0123
a0001c0001t0128g0132
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0006c0012t0129g0140
 50 HG00423.hp2
HG00741.hp2
HG01081.hp2
others(47): Show 
HG00423.hp2
HG00741.hp2
HG01081.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp2
HG01361.hp2
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp2
HG01928.hp2
HG01978.hp2
HG02040.hp2
HG02056.hp2
HG02083.hp2
HG02109.hp2
HG02129.hp2
HG02132.hp2
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02602.hp2
HG02818.hp2
HG02895.hp1
HG03225.hp2
HG03492.hp2
HG03516.hp1
HG03688.hp2
HG04184.hp2
HG04199.hp2
NA18940.hp2
NA18945.hp2
NA18950.hp1
NA18961.hp1
NA18967.hp2
NA18978.hp2
NA18983.hp2
NA18987.hp2
NA19009.hp2
NA19060.hp2
NA19065.hp2
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19079.hp2
NA19081.hp2
NA20300.hp2
 intron_variant MODIFIER c.1117-1980G>A
c.1117-1980G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 603876
chr17:603880 A
A
 T
T
 53 a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
others(50): Show 
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0016t0052g0099
a0002c0003t0073g0068
 53 HG00099.hp2
HG00140.hp2
HG00280.hp1
others(50): Show 
HG00099.hp2
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00621.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01099.hp2
HG01106.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01361.hp1
HG01496.hp1
HG01515.hp2
HG01978.hp1
HG01981.hp2
HG02135.hp1
HG02738.hp1
HG02886.hp1
HG03491.hp1
HG03492.hp1
HG03688.hp1
HG04204.hp2
NA18906.hp2
NA18940.hp1
NA18944.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18959.hp2
NA18960.hp1
NA18962.hp2
NA18967.hp1
NA18973.hp1
NA18977.hp2
NA18979.hp1
NA19007.hp1
NA19009.hp1
NA19065.hp1
NA19070.hp1
NA19079.hp1
NA19084.hp1
NA19090.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1117-1984T>A
c.1117-1984T>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 603880
chr17:604068 T
T
 C
C
 1 a0002c0003t0093g0173
a0002c0003t0093g0173
 1 HG01167.hp1
HG01167.hp1
 intron_variant MODIFIER c.1117-2172A>G
c.1117-2172A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 604068
chr17:604102 C
C
 A
A
 1 a0002c0003t0027g0181
a0002c0003t0027g0181
 1 NA19074.hp1
NA19074.hp1
 intron_variant MODIFIER c.1117-2206G>T
c.1117-2206G>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 604102
chr17:604299 A
A
 G
G
 68 a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
others(65): Show 
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0001g0094
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0065g0093
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0077g0095
a0001c0002t0078g0041
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0011t0051g0091
a0001c0016t0052g0099
a0002c0003t0073g0068
 68 HG00099.hp2
HG00140.hp2
HG00280.hp1
others(65): Show 
HG00099.hp2
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00621.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01099.hp2
HG01106.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01361.hp1
HG01496.hp1
HG01515.hp2
HG01978.hp1
HG01981.hp2
HG02135.hp1
HG02135.hp2
HG02602.hp1
HG02738.hp1
HG02886.hp1
HG03491.hp1
HG03492.hp1
HG03516.hp2
HG03688.hp1
HG04204.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp2
NA18940.hp1
NA18944.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18955.hp2
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18962.hp2
NA18967.hp1
NA18973.hp1
NA18977.hp2
NA18979.hp1
NA18984.hp2
NA18994.hp2
NA19000.hp2
NA19007.hp1
NA19009.hp1
NA19010.hp2
NA19064.hp2
NA19065.hp1
NA19070.hp1
NA19079.hp1
NA19084.hp1
NA19087.hp1
NA19090.hp1
NA19091.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1117-2403T>C
c.1117-2403T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 604299
chr17:604586 G
G
 A
A
 1 a0001c0002t0014g0077
a0001c0002t0014g0077
 1 NA18967.hp1
NA18967.hp1
 intron_variant MODIFIER c.1117-2690C>T
c.1117-2690C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 604586
chr17:604735 T
T
 C
C
 10 a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
others(7): Show 
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
 10 HG02135.hp2
HG02602.hp1
NA18747.hp1
others(7): Show 
HG02135.hp2
HG02602.hp1
NA18747.hp1
NA18955.hp2
NA18960.hp2
NA18994.hp2
NA19000.hp2
NA19010.hp2
NA19087.hp1
NA19091.hp1
 intron_variant MODIFIER c.1117-2839A>G
c.1117-2839A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 604735
chr17:604769 A
A
 T
T
 1 a0001c0002t0066g0070
a0001c0002t0066g0070
 1 NA18946.hp2
NA18946.hp2
 intron_variant MODIFIER c.1117-2873T>A
c.1117-2873T>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 604769
chr17:604850 T
T
 C
C
 1 a0002c0003t0085g0184
a0002c0003t0085g0184
 1 HG03491.hp2
HG03491.hp2
 intron_variant MODIFIER c.1117-2954A>G
c.1117-2954A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 604850
chr17:604901 G
G
 A
A
 15 a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
others(12): Show 
a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0002t0078g0041
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0011t0051g0091
 15 HG01074.hp2
HG02135.hp2
HG02602.hp1
others(12): Show 
HG01074.hp2
HG02135.hp2
HG02602.hp1
HG03516.hp2
NA18747.hp1
NA18747.hp2
NA18955.hp2
NA18960.hp2
NA18984.hp2
NA18994.hp2
NA19000.hp2
NA19010.hp2
NA19064.hp2
NA19087.hp1
NA19091.hp1
 intron_variant MODIFIER c.1117-3005C>T
c.1117-3005C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 604901
chr17:605048 C
C
 A
A
 15 a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
others(12): Show 
a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0002t0078g0041
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0011t0051g0091
 15 HG01074.hp2
HG02135.hp2
HG02602.hp1
others(12): Show 
HG01074.hp2
HG02135.hp2
HG02602.hp1
HG03516.hp2
NA18747.hp1
NA18747.hp2
NA18955.hp2
NA18960.hp2
NA18984.hp2
NA18994.hp2
NA19000.hp2
NA19010.hp2
NA19064.hp2
NA19087.hp1
NA19091.hp1
 intron_variant MODIFIER c.1117-3152G>T
c.1117-3152G>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 605048
chr17:605084 AG
AG
 A
A
 32 a0001c0001t0095g0145
a0001c0002t0086g0221
a0003c0004t0003g0015
others(29): Show 
a0001c0001t0095g0145
a0001c0002t0086g0221
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
 32 HG01257.hp2
HG01516.hp2
HG01517.hp1
others(29): Show 
HG01257.hp2
HG01516.hp2
HG01517.hp1
HG02074.hp1
HG02109.hp1
HG02145.hp1
HG03831.hp2
NA18612.hp2
NA18906.hp1
NA18945.hp1
NA18950.hp2
NA18957.hp1
NA18959.hp1
NA18961.hp2
NA18962.hp1
NA18977.hp1
NA18978.hp1
NA18984.hp1
NA18986.hp2
NA18990.hp1
NA18994.hp1
NA19011.hp2
NA19060.hp1
NA19064.hp1
NA19068.hp1
NA19080.hp1
NA19081.hp1
NA19087.hp2
NA19091.hp2
NA20300.hp2
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.1117-3189delC
c.1117-3189delC
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 605084
chr17:605144 C
C
 T
T
 2 a0001c0002t0050g0049
a0004c0008t0142g0228
a0001c0002t0050g0049
a0004c0008t0142g0228
 2 HG02280.hp1
NA19066.hp1
HG02280.hp1
NA19066.hp1
 intron_variant MODIFIER c.1117-3248G>A
c.1117-3248G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 605144
chr17:605339 G
G
 A
A
 30 a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
others(27): Show 
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
 30 HG01257.hp2
HG01516.hp2
HG01517.hp1
others(27): Show 
HG01257.hp2
HG01516.hp2
HG01517.hp1
HG02074.hp1
HG02109.hp1
HG03831.hp2
NA18612.hp2
NA18906.hp1
NA18945.hp1
NA18950.hp2
NA18957.hp1
NA18959.hp1
NA18961.hp2
NA18962.hp1
NA18977.hp1
NA18978.hp1
NA18984.hp1
NA18986.hp2
NA18990.hp1
NA18994.hp1
NA19011.hp2
NA19060.hp1
NA19064.hp1
NA19068.hp1
NA19080.hp1
NA19081.hp1
NA19087.hp2
NA19091.hp2
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.1117-3443C>T
c.1117-3443C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 605339
chr17:605408 G
G
 C
C
 10 a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
others(7): Show 
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
 10 HG02135.hp2
HG02602.hp1
NA18747.hp1
others(7): Show 
HG02135.hp2
HG02602.hp1
NA18747.hp1
NA18955.hp2
NA18960.hp2
NA18994.hp2
NA19000.hp2
NA19010.hp2
NA19087.hp1
NA19091.hp1
 intron_variant MODIFIER c.1117-3512C>G
c.1117-3512C>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 605408
chr17:605454 A
A
 AGAAAGGA
others(61): Show 
AGAAAGGAAGATGGGGGCCTGGGGTAAGAGGGGTGGCGGGAGTCCCATCA
TATTGGTGAATCAGGGATG
 1 a0002c0003t0008g0180
a0002c0003t0008g0180
 1 HG02293.hp1
HG02293.hp1
 intron_variant MODIFIER c.1117-3626_1117-355
others(72): Show 
c.1117-3626_1117-3559dupCATCCCTGATTCACCAATATGATGGG
ACTCCCGCCACCCCTCTTACCCCAGGCCCCCATCTTCCTTTC
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 605454
chr17:605499 C
C
 A
A
 4 a0001c0001t0032g0114
a0001c0001t0095g0145
a0001c0001t0096g0146
others(1): Show 
a0001c0001t0032g0114
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0098g0147
 4 HG02818.hp2
HG02895.hp1
HG03225.hp2
others(1): Show 
HG02818.hp2
HG02895.hp1
HG03225.hp2
NA20300.hp2
 intron_variant MODIFIER c.1117-3603G>T
c.1117-3603G>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 605499
chr17:605560 G
G
 GGAGTCCC
others(61): Show 
GGAGTCCCATCATATTGGTGAGTCAGGGACGGAAACGAAGATGGGGGCCT
GGGGTAAGAGGGGTGGCGA
 42 a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
others(39): Show 
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0002c0003t0073g0068
 42 HG00140.hp2
HG00280.hp1
HG00323.hp1
others(39): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp1
HG00621.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01106.hp1
HG01167.hp2
HG01168.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01361.hp1
HG01496.hp1
HG01978.hp1
HG02135.hp1
HG02738.hp1
HG02886.hp1
HG04204.hp2
NA18906.hp2
NA18940.hp1
NA18944.hp1
NA18946.hp2
NA18948.hp2
NA18959.hp2
NA18960.hp1
NA18962.hp2
NA18967.hp1
NA18973.hp1
NA18977.hp2
NA18979.hp1
NA19007.hp1
NA19009.hp1
NA19065.hp1
NA19070.hp1
NA19079.hp1
NA19084.hp1
NA19090.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1117-3665_1117-366
others(72): Show 
c.1117-3665_1117-3664insTCGCCACCCCTCTTACCCCAGGCCCC
CATCTTCGTTTCCGTCCCTGACTCACCAATATGATGGGACTC
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 605560
chr17:605574 T
T
 C
C
 1 a0002c0010t0038g0156
a0002c0010t0038g0156
 1 NA21309.hp1
NA21309.hp1
 intron_variant MODIFIER c.1117-3678A>G
c.1117-3678A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 605574
chr17:605589 C
C
 T
T
 4 a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
others(1): Show 
a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0011t0051g0091
 4 HG01074.hp2
NA18747.hp2
NA18984.hp2
others(1): Show 
HG01074.hp2
NA18747.hp2
NA18984.hp2
NA19064.hp2
 intron_variant MODIFIER c.1117-3693G>A
c.1117-3693G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 605589
chr17:605595 C
C
 G
G
 4 a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
others(1): Show 
a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0011t0051g0091
 4 HG01074.hp2
NA18747.hp2
NA18984.hp2
others(1): Show 
HG01074.hp2
NA18747.hp2
NA18984.hp2
NA19064.hp2
 intron_variant MODIFIER c.1117-3699G>C
c.1117-3699G>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 605595
chr17:605596 A
A
 AAAGATGG
others(61): Show 
AAAGATGGGGGCCTGGGGTAAGAGGGGTGGCGAGAGTCCCATCATATTGG
TGAGTCAGGGACGGAAACG
 1 a0004c0008t0035g0203
a0004c0008t0035g0203
 1 HG04184.hp1
HG04184.hp1
 intron_variant MODIFIER c.1117-3701_1117-370
others(72): Show 
c.1117-3701_1117-3700insCGTTTCCGTCCCTGACTCACCAATAT
GATGGGACTCTCGCCACCCCTCTTACCCCAGGCCCCCATCTT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 605596
chr17:605596 A
A
 G
G
 57 a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
others(54): Show 
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0001g0094
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0065g0093
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0077g0095
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0011t0051g0091
a0001c0016t0052g0099
a0002c0003t0073g0068
 57 HG00099.hp2
HG00140.hp2
HG00280.hp1
others(54): Show 
HG00099.hp2
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00621.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01099.hp2
HG01106.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01361.hp1
HG01496.hp1
HG01515.hp2
HG01978.hp1
HG01981.hp2
HG02135.hp1
HG02738.hp1
HG02886.hp1
HG03491.hp1
HG03492.hp1
HG03688.hp1
HG04204.hp2
NA18747.hp2
NA18906.hp2
NA18940.hp1
NA18944.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18959.hp2
NA18960.hp1
NA18962.hp2
NA18967.hp1
NA18973.hp1
NA18977.hp2
NA18979.hp1
NA18984.hp2
NA19007.hp1
NA19009.hp1
NA19064.hp2
NA19065.hp1
NA19070.hp1
NA19079.hp1
NA19084.hp1
NA19090.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1117-3700T>C
c.1117-3700T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 605596
chr17:605634 CCATCATA
others(129): Show 
CCATCATATTGGTGAGTCAGGGACAGAAAGGAAGATGGGGGCCTGGGGTA
AGAGGGGTGGCGGGAGTCCCATCATATTGGTGAGTCAGGGACGGAAACGA
AGATGGGGGCCTGGGGTAAGAGGGGTGGCAAGAGTCG
 C
C
 1 a0002c0003t0009g0218
a0002c0003t0009g0218
 1 HG02056.hp1
HG02056.hp1
 intron_variant MODIFIER c.1117-3874_1117-373
others(4): Show 
c.1117-3874_1117-3739del
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 605634
chr17:605741 G
G
 T
T
 53 a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
others(50): Show 
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0016t0052g0099
a0002c0003t0073g0068
 53 HG00099.hp2
HG00140.hp2
HG00280.hp1
others(50): Show 
HG00099.hp2
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00621.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01099.hp2
HG01106.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01361.hp1
HG01496.hp1
HG01515.hp2
HG01978.hp1
HG01981.hp2
HG02135.hp1
HG02738.hp1
HG02886.hp1
HG03491.hp1
HG03492.hp1
HG03688.hp1
HG04204.hp2
NA18906.hp2
NA18940.hp1
NA18944.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18959.hp2
NA18960.hp1
NA18962.hp2
NA18967.hp1
NA18973.hp1
NA18977.hp2
NA18979.hp1
NA19007.hp1
NA19009.hp1
NA19065.hp1
NA19070.hp1
NA19079.hp1
NA19084.hp1
NA19090.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1117-3845C>A
c.1117-3845C>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 605741
chr17:605770 G
G
 A
A
 1 a0001c0001t0084g0046
a0001c0001t0084g0046
 1 HG03516.hp1
HG03516.hp1
 intron_variant MODIFIER c.1117-3874C>T
c.1117-3874C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 605770
chr17:605896 G
G
 A
A
 1 a0001c0002t0055g0084
a0001c0002t0055g0084
 1 NA18906.hp2
NA18906.hp2
 intron_variant MODIFIER c.1117-4000C>T
c.1117-4000C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 605896
chr17:606022 G
G
 A
A
 15 a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
others(12): Show 
a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0002t0078g0041
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0011t0051g0091
 15 HG01074.hp2
HG02135.hp2
HG02602.hp1
others(12): Show 
HG01074.hp2
HG02135.hp2
HG02602.hp1
HG03516.hp2
NA18747.hp1
NA18747.hp2
NA18955.hp2
NA18960.hp2
NA18984.hp2
NA18994.hp2
NA19000.hp2
NA19010.hp2
NA19064.hp2
NA19087.hp1
NA19091.hp1
 intron_variant MODIFIER c.1117-4126C>T
c.1117-4126C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 606022
chr17:606028 G
G
 A
A
 53 a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
others(50): Show 
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0016t0052g0099
a0002c0003t0073g0068
 53 HG00099.hp2
HG00140.hp2
HG00280.hp1
others(50): Show 
HG00099.hp2
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00621.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01099.hp2
HG01106.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01361.hp1
HG01496.hp1
HG01515.hp2
HG01978.hp1
HG01981.hp2
HG02135.hp1
HG02738.hp1
HG02886.hp1
HG03491.hp1
HG03492.hp1
HG03688.hp1
HG04204.hp2
NA18906.hp2
NA18940.hp1
NA18944.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18959.hp2
NA18960.hp1
NA18962.hp2
NA18967.hp1
NA18973.hp1
NA18977.hp2
NA18979.hp1
NA19007.hp1
NA19009.hp1
NA19065.hp1
NA19070.hp1
NA19079.hp1
NA19084.hp1
NA19090.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1117-4132C>T
c.1117-4132C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 606028
chr17:606153 G
G
 A
A
 53 a0001c0002t0017g0225
a0001c0002t0035g0219
a0001c0002t0038g0224
others(50): Show 
a0001c0002t0017g0225
a0001c0002t0035g0219
a0001c0002t0038g0224
a0001c0002t0050g0049
a0001c0002t0086g0221
a0001c0002t0100g0223
a0001c0002t0109g0222
a0001c0002t0125g0116
a0001c0002t0143g0226
a0001c0002t0149g0202
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0017g0179
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0018g0231
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0085g0184
a0002c0003t0089g0175
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0099g0192
a0002c0003t0104g0208
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0145g0187
a0002c0003t0146g0170
a0002c0003t0148g0174
a0002c0003t0150g0191
a0004c0008t0035g0203
a0004c0008t0036g0207
a0004c0008t0103g0227
a0004c0008t0124g0229
a0004c0008t0133g0232
a0004c0008t0142g0228
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
 53 HG00099.hp1
HG00140.hp1
HG00323.hp2
others(50): Show 
HG00099.hp1
HG00140.hp1
HG00323.hp2
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00621.hp1
HG01070.hp2
HG01071.hp1
HG01099.hp1
HG01167.hp1
HG01346.hp1
HG01516.hp1
HG01928.hp1
HG01981.hp1
HG02040.hp1
HG02056.hp1
HG02074.hp2
HG02083.hp1
HG02129.hp1
HG02132.hp1
HG02145.hp1
HG02280.hp1
HG02293.hp1
HG02300.hp1
HG02738.hp2
HG03491.hp2
HG03831.hp1
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04199.hp1
NA18612.hp1
NA18944.hp2
NA18946.hp1
NA18955.hp1
NA18957.hp2
NA18973.hp2
NA18979.hp2
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA18990.hp2
NA19000.hp1
NA19007.hp2
NA19010.hp1
NA19011.hp1
NA19066.hp1
NA19066.hp2
NA19074.hp1
NA19080.hp2
NA19084.hp2
NA19090.hp2
 intron_variant MODIFIER c.1117-4257C>T
c.1117-4257C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 606153
chr17:606279 C
C
 G
G
 49 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(46): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0032g0114
a0001c0001t0034g0126
a0001c0001t0069g0012
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0098g0147
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0108g0148
a0001c0001t0110g0127
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0123g0123
a0001c0001t0128g0132
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0006c0012t0129g0140
 49 HG00423.hp2
HG00741.hp2
HG01081.hp2
others(46): Show 
HG00423.hp2
HG00741.hp2
HG01081.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp2
HG01361.hp2
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp2
HG01928.hp2
HG01978.hp2
HG02040.hp2
HG02056.hp2
HG02083.hp2
HG02109.hp2
HG02129.hp2
HG02132.hp2
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02602.hp2
HG02818.hp2
HG02895.hp1
HG03225.hp2
HG03492.hp2
HG03688.hp2
HG04184.hp2
HG04199.hp2
NA18940.hp2
NA18945.hp2
NA18950.hp1
NA18961.hp1
NA18967.hp2
NA18978.hp2
NA18983.hp2
NA18987.hp2
NA19009.hp2
NA19060.hp2
NA19065.hp2
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19079.hp2
NA19081.hp2
NA20300.hp2
 intron_variant MODIFIER c.1117-4383G>C
c.1117-4383G>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 606279
chr17:606549 C
C
 T
T
 1 a0004c0008t0035g0203
a0004c0008t0035g0203
 1 HG04184.hp1
HG04184.hp1
 intron_variant MODIFIER c.1117-4653G>A
c.1117-4653G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 606549
chr17:606576 G
G
 A
A
 1 a0001c0001t0030g0120
a0001c0001t0030g0120
 1 HG01884.hp2
HG01884.hp2
 intron_variant MODIFIER c.1117-4680C>T
c.1117-4680C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 606576
chr17:606593 A
A
 C
C
 230 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(227): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0017g0158
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0032g0114
a0001c0001t0032g0204
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0034g0126
a0001c0001t0034g0162
a0001c0001t0069g0012
a0001c0001t0084g0046
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0097g0199
a0001c0001t0098g0147
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0105g0201
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0108g0148
a0001c0001t0110g0127
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0118g0195
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0122g0160
a0001c0001t0123g0123
a0001c0001t0127g0159
a0001c0001t0128g0132
a0001c0001t0134g0154
a0001c0001t0138g0161
a0001c0001t0141g0165
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0001g0094
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0017g0225
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0035g0219
a0001c0002t0038g0224
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0050g0049
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0065g0093
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0077g0095
a0001c0002t0078g0041
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0002t0086g0221
a0001c0002t0100g0223
a0001c0002t0109g0222
a0001c0002t0125g0116
a0001c0002t0143g0226
a0001c0002t0149g0202
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0001c0011t0051g0091
a0001c0014t0135g0166
a0001c0015t0126g0149
a0001c0016t0052g0099
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0017g0179
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0018g0231
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0073g0068
a0002c0003t0085g0184
a0002c0003t0089g0175
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0099g0192
a0002c0003t0104g0208
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0145g0187
a0002c0003t0146g0170
a0002c0003t0148g0174
a0002c0003t0150g0191
a0002c0010t0038g0156
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
a0004c0008t0035g0203
a0004c0008t0036g0207
a0004c0008t0103g0227
a0004c0008t0124g0229
a0004c0008t0133g0232
a0004c0008t0142g0228
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
a0006c0012t0129g0140
a0007c0013t0132g0163
 230 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(227): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00621.hp1
HG00621.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02056.hp1
HG02056.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18955.hp1
NA18955.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18967.hp1
NA18967.hp2
NA18973.hp1
NA18973.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18990.hp1
NA18990.hp2
NA18994.hp1
NA18994.hp2
NA19000.hp1
NA19000.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19087.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1117-4697T>G
c.1117-4697T>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 606593
chr17:606605 A
A
 G
G
 230 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(227): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0017g0158
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0032g0114
a0001c0001t0032g0204
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0034g0126
a0001c0001t0034g0162
a0001c0001t0069g0012
a0001c0001t0084g0046
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0097g0199
a0001c0001t0098g0147
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0105g0201
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0108g0148
a0001c0001t0110g0127
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0118g0195
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0122g0160
a0001c0001t0123g0123
a0001c0001t0127g0159
a0001c0001t0128g0132
a0001c0001t0134g0154
a0001c0001t0138g0161
a0001c0001t0141g0165
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0001g0094
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0017g0225
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0035g0219
a0001c0002t0038g0224
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0050g0049
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0065g0093
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0077g0095
a0001c0002t0078g0041
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0002t0086g0221
a0001c0002t0100g0223
a0001c0002t0109g0222
a0001c0002t0125g0116
a0001c0002t0143g0226
a0001c0002t0149g0202
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0001c0011t0051g0091
a0001c0014t0135g0166
a0001c0015t0126g0149
a0001c0016t0052g0099
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0017g0179
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0018g0231
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0073g0068
a0002c0003t0085g0184
a0002c0003t0089g0175
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0099g0192
a0002c0003t0104g0208
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0145g0187
a0002c0003t0146g0170
a0002c0003t0148g0174
a0002c0003t0150g0191
a0002c0010t0038g0156
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
a0004c0008t0035g0203
a0004c0008t0036g0207
a0004c0008t0103g0227
a0004c0008t0124g0229
a0004c0008t0133g0232
a0004c0008t0142g0228
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
a0006c0012t0129g0140
a0007c0013t0132g0163
 230 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(227): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00621.hp1
HG00621.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02056.hp1
HG02056.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18955.hp1
NA18955.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18967.hp1
NA18967.hp2
NA18973.hp1
NA18973.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18990.hp1
NA18990.hp2
NA18994.hp1
NA18994.hp2
NA19000.hp1
NA19000.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19087.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1117-4709T>C
c.1117-4709T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 606605
chr17:606635 G
G
 A
A
 1 a0001c0001t0032g0114
a0001c0001t0032g0114
 1 HG02895.hp1
HG02895.hp1
 intron_variant MODIFIER c.1117-4739C>T
c.1117-4739C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 606635
chr17:606728 A
A
 G
G
 1 a0001c0001t0098g0147
a0001c0001t0098g0147
 1 HG02818.hp2
HG02818.hp2
 intron_variant MODIFIER c.1117-4832T>C
c.1117-4832T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 606728
chr17:606735 A
A
 T
T
 10 a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
others(7): Show 
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
 10 HG02135.hp2
HG02602.hp1
NA18747.hp1
others(7): Show 
HG02135.hp2
HG02602.hp1
NA18747.hp1
NA18955.hp2
NA18960.hp2
NA18994.hp2
NA19000.hp2
NA19010.hp2
NA19087.hp1
NA19091.hp1
 intron_variant MODIFIER c.1117-4839T>A
c.1117-4839T>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 606735
chr17:606785 C
C
 T
T
 1 a0002c0003t0092g0190
a0002c0003t0092g0190
 1 NA19084.hp2
NA19084.hp2
 intron_variant MODIFIER c.1117-4889G>A
c.1117-4889G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 606785
chr17:606787 CCTT
CCTT
 C
C
 3 a0003c0004t0047g0017
a0003c0004t0056g0020
a0003c0004t0060g0039
a0003c0004t0047g0017
a0003c0004t0056g0020
a0003c0004t0060g0039
 3 HG03831.hp2
NA18994.hp1
NA19080.hp1
HG03831.hp2
NA18994.hp1
NA19080.hp1
 intron_variant MODIFIER c.1117-4894_1117-489
others(7): Show 
c.1117-4894_1117-4892delAAG
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 606787
chr17:606884 C
C
 A
A
 1 a0001c0005t0080g0092
a0001c0005t0080g0092
 1 NA18955.hp2
NA18955.hp2
 intron_variant MODIFIER c.1117-4988G>T
c.1117-4988G>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 606884
chr17:606930 A
A
 G
G
 1 a0001c0005t0080g0092
a0001c0005t0080g0092
 1 NA18955.hp2
NA18955.hp2
 intron_variant MODIFIER c.1117-5034T>C
c.1117-5034T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 606930
chr17:606932 G
G
 T
T
 1 a0001c0005t0080g0092
a0001c0005t0080g0092
 1 NA18955.hp2
NA18955.hp2
 intron_variant MODIFIER c.1117-5036C>A
c.1117-5036C>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 606932
chr17:606934 T
T
 G
G
 1 a0001c0005t0080g0092
a0001c0005t0080g0092
 1 NA18955.hp2
NA18955.hp2
 intron_variant MODIFIER c.1117-5038A>C
c.1117-5038A>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 606934
chr17:607258 A
A
 G
G
 1 a0001c0002t0100g0223
a0001c0002t0100g0223
 1 NA18944.hp2
NA18944.hp2
 intron_variant MODIFIER c.1117-5362T>C
c.1117-5362T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 607258
chr17:607394 T
T
 C
C
 1 a0002c0003t0099g0192
a0002c0003t0099g0192
 1 HG00438.hp2
HG00438.hp2
 intron_variant MODIFIER c.1117-5498A>G
c.1117-5498A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 607394
chr17:607467 C
C
 T
T
 68 a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
others(65): Show 
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0001g0094
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0065g0093
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0077g0095
a0001c0002t0078g0041
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0011t0051g0091
a0001c0016t0052g0099
a0002c0003t0073g0068
 68 HG00099.hp2
HG00140.hp2
HG00280.hp1
others(65): Show 
HG00099.hp2
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00621.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01099.hp2
HG01106.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01361.hp1
HG01496.hp1
HG01515.hp2
HG01978.hp1
HG01981.hp2
HG02135.hp1
HG02135.hp2
HG02602.hp1
HG02738.hp1
HG02886.hp1
HG03491.hp1
HG03492.hp1
HG03516.hp2
HG03688.hp1
HG04204.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp2
NA18940.hp1
NA18944.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18955.hp2
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18962.hp2
NA18967.hp1
NA18973.hp1
NA18977.hp2
NA18979.hp1
NA18984.hp2
NA18994.hp2
NA19000.hp2
NA19007.hp1
NA19009.hp1
NA19010.hp2
NA19064.hp2
NA19065.hp1
NA19070.hp1
NA19079.hp1
NA19084.hp1
NA19087.hp1
NA19090.hp1
NA19091.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1117-5571G>A
c.1117-5571G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 607467
chr17:607506 C
C
 T
T
 5 a0001c0002t0003g0072
a0001c0002t0013g0083
a0001c0002t0024g0073
others(2): Show 
a0001c0002t0003g0072
a0001c0002t0013g0083
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0079g0086
 5 HG01081.hp1
HG01106.hp1
HG01361.hp1
others(2): Show 
HG01081.hp1
HG01106.hp1
HG01361.hp1
HG01496.hp1
NA20805.hp2
 intron_variant MODIFIER c.1117-5610G>A
c.1117-5610G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 607506
chr17:607536 T
T
 A
A
 1 a0001c0001t0112g0157
a0001c0001t0112g0157
 1 NA20129.hp1
NA20129.hp1
 intron_variant MODIFIER c.1117-5640A>T
c.1117-5640A>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 607536
chr17:607600 C
C
 T
T
 1 a0001c0001t0088g0152
a0001c0001t0088g0152
 1 HG01884.hp1
HG01884.hp1
 intron_variant MODIFIER c.1117-5704G>A
c.1117-5704G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 607600
chr17:607749 C
C
 T
T
 1 a0002c0003t0027g0169
a0002c0003t0027g0169
 1 NA19000.hp1
NA19000.hp1
 intron_variant MODIFIER c.1117-5853G>A
c.1117-5853G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 607749
chr17:607798 T
T
 C
C
 2 a0001c0002t0082g0069
a0002c0003t0073g0068
a0001c0002t0082g0069
a0002c0003t0073g0068
 2 NA18977.hp2
NA19079.hp1
NA18977.hp2
NA19079.hp1
 intron_variant MODIFIER c.1117-5902A>G
c.1117-5902A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 607798
chr17:607915 C
C
 T
T
 2 a0001c0014t0135g0166
a0001c0015t0126g0149
a0001c0014t0135g0166
a0001c0015t0126g0149
 2 HG02572.hp1
HG02723.hp1
HG02572.hp1
HG02723.hp1
 intron_variant MODIFIER c.1117-6019G>A
c.1117-6019G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 607915
chr17:607916 G
G
 A
A
 53 a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
others(50): Show 
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0016t0052g0099
a0002c0003t0073g0068
 53 HG00099.hp2
HG00140.hp2
HG00280.hp1
others(50): Show 
HG00099.hp2
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00621.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01099.hp2
HG01106.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01361.hp1
HG01496.hp1
HG01515.hp2
HG01978.hp1
HG01981.hp2
HG02135.hp1
HG02738.hp1
HG02886.hp1
HG03491.hp1
HG03492.hp1
HG03688.hp1
HG04204.hp2
NA18906.hp2
NA18940.hp1
NA18944.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18959.hp2
NA18960.hp1
NA18962.hp2
NA18967.hp1
NA18973.hp1
NA18977.hp2
NA18979.hp1
NA19007.hp1
NA19009.hp1
NA19065.hp1
NA19070.hp1
NA19079.hp1
NA19084.hp1
NA19090.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1117-6020C>T
c.1117-6020C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 607916
chr17:607950 C
C
 G
G
 79 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(76): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0017g0158
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0032g0114
a0001c0001t0032g0204
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0034g0126
a0001c0001t0034g0162
a0001c0001t0069g0012
a0001c0001t0084g0046
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0097g0199
a0001c0001t0098g0147
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0105g0201
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0108g0148
a0001c0001t0110g0127
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0118g0195
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0122g0160
a0001c0001t0123g0123
a0001c0001t0127g0159
a0001c0001t0128g0132
a0001c0001t0134g0154
a0001c0001t0138g0161
a0001c0001t0141g0165
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0001c0014t0135g0166
a0001c0015t0126g0149
a0002c0010t0038g0156
a0006c0012t0129g0140
a0007c0013t0132g0163
 79 HG00423.hp2
HG00741.hp1
HG00741.hp2
others(76): Show 
HG00423.hp2
HG00741.hp1
HG00741.hp2
HG01081.hp2
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01346.hp2
HG01361.hp2
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp2
HG01978.hp2
HG02040.hp2
HG02056.hp2
HG02083.hp2
HG02109.hp2
HG02129.hp2
HG02132.hp2
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02723.hp1
HG02723.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03492.hp2
HG03516.hp1
HG03688.hp2
HG04184.hp2
HG04199.hp2
HG04204.hp1
NA18940.hp2
NA18945.hp2
NA18950.hp1
NA18961.hp1
NA18967.hp2
NA18978.hp2
NA18983.hp2
NA18987.hp2
NA19009.hp2
NA19060.hp2
NA19065.hp2
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19079.hp2
NA19081.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA21309.hp1
 intron_variant MODIFIER c.1117-6054G>C
c.1117-6054G>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 607950
chr17:607976 G
G
 A
A
 2 a0001c0014t0135g0166
a0001c0015t0126g0149
a0001c0014t0135g0166
a0001c0015t0126g0149
 2 HG02572.hp1
HG02723.hp1
HG02572.hp1
HG02723.hp1
 intron_variant MODIFIER c.1117-6080C>T
c.1117-6080C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 607976
chr17:608202 A
A
 AC
AC
 6 a0001c0002t0083g0067
a0002c0003t0008g0183
a0002c0003t0027g0169
others(3): Show 
a0001c0002t0083g0067
a0002c0003t0008g0183
a0002c0003t0027g0169
a0002c0003t0092g0190
a0003c0004t0004g0014
a0003c0004t0004g0021
 6 HG00621.hp2
NA18957.hp1
NA19000.hp1
others(3): Show 
HG00621.hp2
NA18957.hp1
NA19000.hp1
NA19010.hp1
NA19011.hp2
NA19084.hp2
 intron_variant MODIFIER c.1117-6307dupG
c.1117-6307dupG
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 608202
chr17:608226 G
G
 T
T
 2 a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0031g0153
a0001c0001t0031g0155
 2 HG01891.hp2
NA20129.hp2
HG01891.hp2
NA20129.hp2
 intron_variant MODIFIER c.1117-6330C>A
c.1117-6330C>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 608226
chr17:608262 C
C
 A
A
 1 a0002c0003t0136g0216
a0002c0003t0136g0216
 1 HG03831.hp1
HG03831.hp1
 intron_variant MODIFIER c.1117-6366G>T
c.1117-6366G>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 608262
chr17:608267 A
A
 G
G
 11 a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
others(8): Show 
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0016t0052g0099
 11 HG00099.hp2
HG00280.hp2
HG01099.hp2
others(8): Show 
HG00099.hp2
HG00280.hp2
HG01099.hp2
HG01168.hp2
HG01175.hp1
HG01515.hp2
HG01981.hp2
HG03491.hp1
HG03492.hp1
HG03688.hp1
NA18948.hp1
 intron_variant MODIFIER c.1117-6371T>C
c.1117-6371T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 608267
chr17:608423 C
C
 T
T
 4 a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
others(1): Show 
a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0011t0051g0091
 4 HG01074.hp2
NA18747.hp2
NA18984.hp2
others(1): Show 
HG01074.hp2
NA18747.hp2
NA18984.hp2
NA19064.hp2
 intron_variant MODIFIER c.1117-6527G>A
c.1117-6527G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 608423
chr17:608521 T
T
 C
C
 4 a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
others(1): Show 
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0094g0129
 4 HG00423.hp2
NA18950.hp1
NA18961.hp1
others(1): Show 
HG00423.hp2
NA18950.hp1
NA18961.hp1
NA19060.hp2
 intron_variant MODIFIER c.1117-6625A>G
c.1117-6625A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 608521
chr17:608621 TC
TC
 T
T
 18 a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0067g0076
others(15): Show 
a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0067g0076
a0001c0002t0077g0095
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0011t0051g0091
a0002c0003t0027g0181
a0002c0003t0104g0208
a0003c0004t0004g0014
 18 HG01074.hp2
HG01168.hp1
HG02135.hp2
others(15): Show 
HG01074.hp2
HG01168.hp1
HG02135.hp2
HG02602.hp1
NA18747.hp1
NA18747.hp2
NA18955.hp2
NA18957.hp1
NA18960.hp2
NA18984.hp2
NA18987.hp1
NA18994.hp2
NA19000.hp2
NA19010.hp2
NA19064.hp2
NA19074.hp1
NA19087.hp1
NA19091.hp1
 intron_variant MODIFIER c.1117-6726delG
c.1117-6726delG
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 608621
chr17:608622 C
C
 T
T
 210 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(207): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0017g0158
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0032g0114
a0001c0001t0032g0204
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0034g0126
a0001c0001t0034g0162
a0001c0001t0069g0012
a0001c0001t0084g0046
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0097g0199
a0001c0001t0098g0147
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0105g0201
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0108g0148
a0001c0001t0110g0127
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0118g0195
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0122g0160
a0001c0001t0123g0123
a0001c0001t0127g0159
a0001c0001t0128g0132
a0001c0001t0134g0154
a0001c0001t0138g0161
a0001c0001t0141g0165
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0017g0225
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0035g0219
a0001c0002t0038g0224
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0050g0049
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0066g0070
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0078g0041
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0002t0086g0221
a0001c0002t0100g0223
a0001c0002t0109g0222
a0001c0002t0125g0116
a0001c0002t0143g0226
a0001c0002t0149g0202
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0070g0112
a0001c0014t0135g0166
a0001c0015t0126g0149
a0001c0016t0052g0099
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0017g0179
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0018g0231
a0002c0003t0027g0169
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0073g0068
a0002c0003t0085g0184
a0002c0003t0089g0175
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0099g0192
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0145g0187
a0002c0003t0146g0170
a0002c0003t0148g0174
a0002c0003t0150g0191
a0002c0010t0038g0156
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
a0004c0008t0035g0203
a0004c0008t0036g0207
a0004c0008t0103g0227
a0004c0008t0124g0229
a0004c0008t0133g0232
a0004c0008t0142g0228
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
a0006c0012t0129g0140
a0007c0013t0132g0163
 210 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(207): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00621.hp1
HG00621.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02056.hp1
HG02056.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02145.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02300.hp1
HG02300.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
NA18612.hp1
NA18612.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18955.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18967.hp1
NA18967.hp2
NA18973.hp1
NA18973.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18986.hp1
NA18986.hp2
NA18987.hp2
NA18990.hp1
NA18990.hp2
NA18994.hp1
NA19000.hp1
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19011.hp1
NA19011.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1117-6726G>A
c.1117-6726G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 608622
chr17:608772 C
C
 T
T
 1 a0001c0002t0014g0077
a0001c0002t0014g0077
 1 NA18967.hp1
NA18967.hp1
 intron_variant MODIFIER c.1117-6876G>A
c.1117-6876G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 608772
chr17:608786 T
T
 A
A
 1 a0001c0001t0084g0046
a0001c0001t0084g0046
 1 HG03516.hp1
HG03516.hp1
 intron_variant MODIFIER c.1117-6890A>T
c.1117-6890A>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 608786
chr17:608815 G
G
 A
A
 1 a0001c0001t0011g0013
a0001c0001t0011g0013
 1 HG01361.hp2
HG01361.hp2
 intron_variant MODIFIER c.1117-6919C>T
c.1117-6919C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 608815
chr17:608830 C
C
 G
G
 1 a0002c0003t0144g0215
a0002c0003t0144g0215
 1 HG02738.hp2
HG02738.hp2
 intron_variant MODIFIER c.1117-6934G>C
c.1117-6934G>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 608830
chr17:608921 A
A
 AT
AT
 14 a0001c0001t0002g0213
a0001c0001t0034g0126
a0001c0001t0114g0142
others(11): Show 
a0001c0001t0002g0213
a0001c0001t0034g0126
a0001c0001t0114g0142
a0001c0002t0125g0116
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
 14 HG01256.hp2
HG02135.hp2
HG02602.hp1
others(11): Show 
HG01256.hp2
HG02135.hp2
HG02602.hp1
HG02602.hp2
HG03688.hp2
NA18747.hp1
NA18955.hp2
NA18960.hp2
NA18994.hp2
NA19000.hp2
NA19007.hp2
NA19010.hp2
NA19087.hp1
NA19091.hp1
 intron_variant MODIFIER c.1117-7026dupA
c.1117-7026dupA
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 608921
chr17:609221 T
T
 C
C
 1 a0001c0002t0078g0041
a0001c0002t0078g0041
 1 HG03516.hp2
HG03516.hp2
 intron_variant MODIFIER c.1117-7325A>G
c.1117-7325A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 609221
chr17:609319 C
C
 T
T
 230 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(227): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0017g0158
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0032g0114
a0001c0001t0032g0204
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0034g0126
a0001c0001t0034g0162
a0001c0001t0069g0012
a0001c0001t0084g0046
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0097g0199
a0001c0001t0098g0147
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0105g0201
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0108g0148
a0001c0001t0110g0127
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0118g0195
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0122g0160
a0001c0001t0123g0123
a0001c0001t0127g0159
a0001c0001t0128g0132
a0001c0001t0134g0154
a0001c0001t0138g0161
a0001c0001t0141g0165
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0001g0094
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0017g0225
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0035g0219
a0001c0002t0038g0224
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0050g0049
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0065g0093
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0077g0095
a0001c0002t0078g0041
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0002t0086g0221
a0001c0002t0100g0223
a0001c0002t0109g0222
a0001c0002t0125g0116
a0001c0002t0143g0226
a0001c0002t0149g0202
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0001c0011t0051g0091
a0001c0014t0135g0166
a0001c0015t0126g0149
a0001c0016t0052g0099
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0017g0179
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0018g0231
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0073g0068
a0002c0003t0085g0184
a0002c0003t0089g0175
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0099g0192
a0002c0003t0104g0208
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0145g0187
a0002c0003t0146g0170
a0002c0003t0148g0174
a0002c0003t0150g0191
a0002c0010t0038g0156
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
a0004c0008t0035g0203
a0004c0008t0036g0207
a0004c0008t0103g0227
a0004c0008t0124g0229
a0004c0008t0133g0232
a0004c0008t0142g0228
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
a0006c0012t0129g0140
a0007c0013t0132g0163
 230 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(227): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00621.hp1
HG00621.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02056.hp1
HG02056.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18955.hp1
NA18955.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18967.hp1
NA18967.hp2
NA18973.hp1
NA18973.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18990.hp1
NA18990.hp2
NA18994.hp1
NA18994.hp2
NA19000.hp1
NA19000.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19087.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1117-7423G>A
c.1117-7423G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 609319
chr17:609722 G
G
 A
A
 1 a0001c0002t0035g0219
a0001c0002t0035g0219
 1 HG00438.hp1
HG00438.hp1
 intron_variant MODIFIER c.1117-7826C>T
c.1117-7826C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 609722
chr17:609778 G
G
 A
A
 2 a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0011g0105
a0001c0007t0011g0106
 2 HG01515.hp1
HG01517.hp2
HG01515.hp1
HG01517.hp2
 intron_variant MODIFIER c.1117-7882C>T
c.1117-7882C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 609778
chr17:609972 A
A
 T
T
 3 a0002c0003t0008g0182
a0002c0003t0090g0171
a0002c0003t0104g0208
a0002c0003t0008g0182
a0002c0003t0090g0171
a0002c0003t0104g0208
 3 HG02083.hp1
NA18612.hp1
NA18987.hp1
HG02083.hp1
NA18612.hp1
NA18987.hp1
 intron_variant MODIFIER c.1117-8076T>A
c.1117-8076T>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 609972
chr17:609990 G
G
 A
A
 18 a0002c0003t0017g0179
a0002c0003t0018g0172
a0002c0003t0018g0214
others(15): Show 
a0002c0003t0017g0179
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0089g0175
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0146g0170
a0002c0003t0148g0174
a0004c0008t0036g0207
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
 18 HG00323.hp2
HG00423.hp1
HG00621.hp1
others(15): Show 
HG00323.hp2
HG00423.hp1
HG00621.hp1
HG01070.hp2
HG01071.hp1
HG02074.hp2
HG02129.hp1
HG02132.hp1
HG02738.hp2
HG03831.hp1
NA18946.hp1
NA18955.hp1
NA18957.hp2
NA18979.hp2
NA18983.hp1
NA18986.hp1
NA19066.hp2
NA19090.hp2
 intron_variant MODIFIER c.1117-8094C>T
c.1117-8094C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 609990
chr17:609992 C
C
 T
T
 1 a0002c0003t0092g0190
a0002c0003t0092g0190
 1 NA19084.hp2
NA19084.hp2
 intron_variant MODIFIER c.1117-8096G>A
c.1117-8096G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 609992
chr17:610001 G
G
 A
A
 4 a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
others(1): Show 
a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0011t0051g0091
 4 HG01074.hp2
NA18747.hp2
NA18984.hp2
others(1): Show 
HG01074.hp2
NA18747.hp2
NA18984.hp2
NA19064.hp2
 intron_variant MODIFIER c.1117-8105C>T
c.1117-8105C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 610001
chr17:610004 C
C
 A
A
 13 a0001c0001t0017g0158
a0001c0001t0032g0204
a0001c0001t0033g0205
others(10): Show 
a0001c0001t0017g0158
a0001c0001t0032g0204
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0034g0162
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0122g0160
a0001c0001t0127g0159
a0001c0001t0138g0161
a0001c0001t0141g0165
a0002c0010t0038g0156
a0007c0013t0132g0163
 13 HG00741.hp1
HG01106.hp2
HG01109.hp1
others(10): Show 
HG00741.hp1
HG01106.hp2
HG01109.hp1
HG01257.hp1
HG01258.hp2
HG01891.hp1
HG02886.hp2
HG02895.hp2
HG02922.hp1
HG03225.hp1
HG04204.hp1
NA20129.hp1
NA21309.hp1
 intron_variant MODIFIER c.1117-8108G>T
c.1117-8108G>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 610004
chr17:610005 G
G
 A
A
 38 a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
others(35): Show 
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0017g0179
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0018g0231
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0085g0184
a0002c0003t0089g0175
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0099g0192
a0002c0003t0104g0208
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0145g0187
a0002c0003t0146g0170
a0002c0003t0148g0174
a0002c0003t0150g0191
a0004c0008t0036g0207
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
 38 HG00323.hp2
HG00423.hp1
HG00438.hp2
others(35): Show 
HG00323.hp2
HG00423.hp1
HG00438.hp2
HG00621.hp1
HG01070.hp2
HG01071.hp1
HG01099.hp1
HG01167.hp1
HG01928.hp1
HG01981.hp1
HG02040.hp1
HG02056.hp1
HG02074.hp2
HG02083.hp1
HG02129.hp1
HG02132.hp1
HG02293.hp1
HG02300.hp1
HG02738.hp2
HG03491.hp2
HG03831.hp1
HG03942.hp1
HG04199.hp1
NA18612.hp1
NA18946.hp1
NA18955.hp1
NA18957.hp2
NA18979.hp2
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA19000.hp1
NA19010.hp1
NA19066.hp2
NA19074.hp1
NA19080.hp2
NA19084.hp2
NA19090.hp2
 intron_variant MODIFIER c.1117-8109C>T
c.1117-8109C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 610005
chr17:610037 A
A
 G
G
 1 a0001c0002t0050g0049
a0001c0002t0050g0049
 1 HG02280.hp1
HG02280.hp1
 intron_variant MODIFIER c.1117-8141T>C
c.1117-8141T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 610037
chr17:610067 C
C
 CT
CT
 3 a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0013g0078
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0013g0078
 3 HG00140.hp2
HG00280.hp1
HG00323.hp1
HG00140.hp2
HG00280.hp1
HG00323.hp1
 intron_variant MODIFIER c.1117-8172dupA
c.1117-8172dupA
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 610067
chr17:610109 C
C
 T
T
 30 a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
others(27): Show 
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
 30 HG01257.hp2
HG01516.hp2
HG01517.hp1
others(27): Show 
HG01257.hp2
HG01516.hp2
HG01517.hp1
HG02074.hp1
HG02109.hp1
HG03831.hp2
NA18612.hp2
NA18906.hp1
NA18945.hp1
NA18950.hp2
NA18957.hp1
NA18959.hp1
NA18961.hp2
NA18962.hp1
NA18977.hp1
NA18978.hp1
NA18984.hp1
NA18986.hp2
NA18990.hp1
NA18994.hp1
NA19011.hp2
NA19060.hp1
NA19064.hp1
NA19068.hp1
NA19080.hp1
NA19081.hp1
NA19087.hp2
NA19091.hp2
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.1117-8213G>A
c.1117-8213G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 610109
chr17:610110 G
G
 A
A
 4 a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
others(1): Show 
a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0011t0051g0091
 4 HG01074.hp2
NA18747.hp2
NA18984.hp2
others(1): Show 
HG01074.hp2
NA18747.hp2
NA18984.hp2
NA19064.hp2
 intron_variant MODIFIER c.1117-8214C>T
c.1117-8214C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 610110
chr17:610127 TCA
TCA
 T
T
 3 a0001c0002t0049g0048
a0001c0014t0135g0166
a0001c0015t0126g0149
a0001c0002t0049g0048
a0001c0014t0135g0166
a0001c0015t0126g0149
 3 HG02145.hp2
HG02572.hp1
HG02723.hp1
HG02145.hp2
HG02572.hp1
HG02723.hp1
 intron_variant MODIFIER c.1117-8233_1117-823
others(6): Show 
c.1117-8233_1117-8232delTG
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 610127
chr17:610127 TCACA
TCACA
 T
T
 2 a0001c0001t0095g0145
a0001c0016t0052g0099
a0001c0001t0095g0145
a0001c0016t0052g0099
 2 HG01168.hp2
NA20300.hp2
HG01168.hp2
NA20300.hp2
 intron_variant MODIFIER c.1117-8235_1117-823
others(8): Show 
c.1117-8235_1117-8232delTGTG
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 610127
chr17:610127 TCACACA
TCACACA
 T
T
 30 a0001c0001t0002g0210
a0001c0001t0030g0119
a0001c0001t0030g0120
others(27): Show 
a0001c0001t0002g0210
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0032g0114
a0001c0001t0032g0204
a0001c0001t0096g0146
a0001c0001t0108g0148
a0001c0001t0118g0195
a0001c0002t0003g0072
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0055g0084
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0086g0221
a0001c0002t0109g0222
a0001c0005t0019g0007
a0001c0005t0046g0011
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0068g0098
a0001c0006t0074g0097
a0002c0010t0038g0156
 30 HG00099.hp1
HG00099.hp2
HG01081.hp1
others(27): Show 
HG00099.hp1
HG00099.hp2
HG01081.hp1
HG01099.hp2
HG01175.hp1
HG01192.hp1
HG01346.hp2
HG01361.hp1
HG01496.hp1
HG01884.hp2
HG01891.hp2
HG01978.hp1
HG01981.hp2
HG02145.hp1
HG02280.hp2
HG02602.hp1
HG02895.hp1
HG02922.hp1
HG03225.hp2
HG03491.hp1
HG03492.hp1
HG03688.hp1
NA18906.hp2
NA18940.hp2
NA18948.hp1
NA18973.hp1
NA18994.hp2
NA19070.hp1
NA20129.hp2
NA21309.hp1
 intron_variant MODIFIER c.1117-8237_1117-823
others(10): Show 
c.1117-8237_1117-8232delTGTGTG
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 610127
chr17:610127 TCACACAC
others(1): Show 
TCACACACA
 T
T
 28 a0001c0001t0016g0125
a0001c0001t0017g0158
a0001c0001t0029g0150
others(25): Show 
a0001c0001t0016g0125
a0001c0001t0017g0158
a0001c0001t0029g0150
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0034g0162
a0001c0001t0112g0157
a0001c0001t0122g0160
a0001c0001t0127g0159
a0001c0001t0134g0154
a0001c0001t0138g0161
a0001c0001t0141g0165
a0001c0002t0001g0045
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0050g0049
a0001c0002t0078g0041
a0001c0002t0100g0223
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0080g0092
a0001c0006t0057g0103
a0007c0013t0132g0163
 28 HG00280.hp2
HG00741.hp1
HG01070.hp1
others(25): Show 
HG00280.hp2
HG00741.hp1
HG01070.hp1
HG01106.hp2
HG01109.hp1
HG01257.hp1
HG01258.hp2
HG01891.hp1
HG02132.hp2
HG02135.hp2
HG02280.hp1
HG02738.hp1
HG02886.hp1
HG02886.hp2
HG03139.hp2
HG03225.hp1
HG03516.hp2
HG04204.hp1
NA18747.hp1
NA18944.hp2
NA18955.hp2
NA18960.hp2
NA19000.hp2
NA19010.hp2
NA19087.hp1
NA19091.hp1
NA20129.hp1
NA20300.hp1
 intron_variant MODIFIER c.1117-8239_1117-823
others(12): Show 
c.1117-8239_1117-8232delTGTGTGTG
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 610127
chr17:610127 TCACACAC
others(3): Show 
TCACACACACA
 T
T
 51 a0001c0001t0002g0133
a0001c0001t0028g0196
a0001c0001t0028g0197
others(48): Show 
a0001c0001t0002g0133
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0151
a0001c0001t0034g0126
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0097g0199
a0001c0001t0105g0201
a0001c0001t0106g0117
a0001c0001t0111g0164
a0001c0001t0119g0144
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0017g0225
a0001c0002t0022g0085
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0038g0224
a0001c0002t0048g0089
a0001c0002t0058g0052
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0002t0125g0116
a0001c0002t0143g0226
a0001c0002t0149g0202
a0001c0006t0039g0003
a0002c0003t0073g0068
a0004c0008t0035g0203
a0004c0008t0103g0227
a0004c0008t0124g0229
a0004c0008t0133g0232
a0004c0008t0142g0228
 51 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(48): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00323.hp1
HG00621.hp2
HG01071.hp2
HG01074.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01346.hp1
HG01515.hp2
HG01516.hp1
HG01884.hp1
HG02040.hp2
HG02109.hp2
HG02622.hp1
HG02622.hp2
HG02723.hp2
HG02818.hp1
HG02895.hp2
HG02922.hp2
HG03942.hp2
HG04184.hp1
HG04204.hp2
NA18940.hp1
NA18948.hp2
NA18959.hp2
NA18960.hp1
NA18962.hp2
NA18967.hp1
NA18973.hp2
NA18977.hp2
NA18979.hp1
NA18987.hp2
NA18990.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19011.hp1
NA19065.hp1
NA19066.hp1
NA19079.hp1
NA19084.hp1
NA19090.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1117-8241_1117-823
others(14): Show 
c.1117-8241_1117-8232delTGTGTGTGTG
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 610127
chr17:610127 TCACACAC
others(5): Show 
TCACACACACACA
 T
T
 37 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0134
others(34): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0094g0129
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0107g0212
a0001c0001t0110g0127
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0123g0123
a0001c0001t0128g0132
a0001c0002t0005g0061
a0001c0002t0066g0070
a0001c0002t0079g0086
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0011t0051g0091
a0003c0004t0006g0033
a0003c0004t0081g0035
a0006c0012t0129g0140
 37 HG00423.hp2
HG01074.hp2
HG01081.hp2
others(34): Show 
HG00423.hp2
HG01074.hp2
HG01081.hp2
HG01106.hp1
HG01192.hp2
HG01255.hp2
HG01361.hp2
HG01515.hp1
HG01517.hp2
HG01928.hp2
HG01978.hp2
HG02056.hp2
HG02083.hp2
HG02129.hp2
HG02135.hp1
HG02293.hp2
HG02572.hp2
HG02602.hp2
HG03139.hp1
HG03492.hp2
HG03688.hp2
NA18945.hp2
NA18946.hp2
NA18950.hp1
NA18950.hp2
NA18961.hp1
NA18967.hp2
NA18978.hp2
NA18983.hp2
NA19009.hp2
NA19060.hp2
NA19065.hp2
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19081.hp2
NA21309.hp2
 intron_variant MODIFIER c.1117-8243_1117-823
others(16): Show 
c.1117-8243_1117-8232delTGTGTGTGTGTG
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 610127
chr17:610127 TCACACAC
others(7): Show 
TCACACACACACACA
 T
T
 23 a0001c0001t0069g0012
a0001c0001t0113g0122
a0001c0001t0120g0211
others(20): Show 
a0001c0001t0069g0012
a0001c0001t0113g0122
a0001c0001t0120g0211
a0001c0002t0035g0219
a0001c0002t0043g0064
a0001c0007t0012g0108
a0001c0007t0012g0110
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0040
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0022g0004
a0003c0004t0054g0032
a0003c0004t0060g0039
a0003c0004t0064g0042
a0003c0004t0071g0037
 23 HG00438.hp1
HG00741.hp2
HG01257.hp2
others(20): Show 
HG00438.hp1
HG00741.hp2
HG01257.hp2
HG01496.hp2
HG01516.hp2
HG01517.hp1
HG02074.hp1
HG02109.hp1
HG02300.hp2
HG03831.hp2
HG04184.hp2
NA18906.hp1
NA18944.hp1
NA18957.hp1
NA18959.hp1
NA18961.hp2
NA18962.hp1
NA18977.hp1
NA18984.hp1
NA18986.hp2
NA19079.hp2
NA19087.hp2
NA20805.hp1
 intron_variant MODIFIER c.1117-8245_1117-823
others(18): Show 
c.1117-8245_1117-8232delTGTGTGTGTGTGTG
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 610127
chr17:610127 TCACACAC
others(9): Show 
TCACACACACACACACA
 T
T
 9 a0001c0001t0084g0046
a0001c0001t0121g0143
a0001c0002t0065g0093
others(6): Show 
a0001c0001t0084g0046
a0001c0001t0121g0143
a0001c0002t0065g0093
a0001c0002t0077g0095
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0025g0038
a0003c0004t0056g0020
 9 HG03516.hp1
HG04199.hp2
NA18612.hp2
others(6): Show 
HG03516.hp1
HG04199.hp2
NA18612.hp2
NA18984.hp2
NA18990.hp1
NA19011.hp2
NA19064.hp2
NA19068.hp1
NA19080.hp1
 intron_variant MODIFIER c.1117-8247_1117-823
others(20): Show 
c.1117-8247_1117-8232delTGTGTGTGTGTGTGTG
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 610127
chr17:610127 TCACACAC
others(11): Show 
TCACACACACACACACACA
 T
T
 7 a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
others(4): Show 
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0047g0017
a0003c0004t0059g0029
a0003c0004t0061g0031
a0003c0004t0063g0034
 7 NA18945.hp1
NA18978.hp1
NA18994.hp1
others(4): Show 
NA18945.hp1
NA18978.hp1
NA18994.hp1
NA19060.hp1
NA19064.hp1
NA19081.hp1
NA19091.hp2
 intron_variant MODIFIER c.1117-8249_1117-823
others(22): Show 
c.1117-8249_1117-8232delTGTGTGTGTGTGTGTGTG
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 610127
chr17:610127 TCACACAC
others(13): Show 
TCACACACACACACACACACA
 T
T
 3 a0002c0003t0027g0169
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0027g0169
a0002c0003t0092g0190
a0002c0003t0093g0173
 3 HG01167.hp1
NA19000.hp1
NA19084.hp2
HG01167.hp1
NA19000.hp1
NA19084.hp2
 intron_variant MODIFIER c.1117-8251_1117-823
others(24): Show 
c.1117-8251_1117-8232delTGTGTGTGTGTGTGTGTGTG
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 610127
chr17:610127 TCACACAC
others(15): Show 
TCACACACACACACACACACACA
 T
T
 35 a0001c0002t0001g0094
a0002c0003t0008g0180
a0002c0003t0008g0182
others(32): Show 
a0001c0002t0001g0094
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0017g0179
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0018g0231
a0002c0003t0027g0181
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0085g0184
a0002c0003t0089g0175
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0099g0192
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0145g0187
a0002c0003t0146g0170
a0002c0003t0148g0174
a0002c0003t0150g0191
a0004c0008t0036g0207
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
 35 HG00323.hp2
HG00423.hp1
HG00438.hp2
others(32): Show 
HG00323.hp2
HG00423.hp1
HG00438.hp2
HG00621.hp1
HG01070.hp2
HG01071.hp1
HG01099.hp1
HG01928.hp1
HG01981.hp1
HG02040.hp1
HG02056.hp1
HG02074.hp2
HG02083.hp1
HG02129.hp1
HG02132.hp1
HG02293.hp1
HG02300.hp1
HG02738.hp2
HG03491.hp2
HG03831.hp1
HG03942.hp1
HG04199.hp1
NA18612.hp1
NA18747.hp2
NA18946.hp1
NA18955.hp1
NA18957.hp2
NA18979.hp2
NA18983.hp1
NA18986.hp1
NA19010.hp1
NA19066.hp2
NA19074.hp1
NA19080.hp2
NA19090.hp2
 intron_variant MODIFIER c.1117-8253_1117-823
others(26): Show 
c.1117-8253_1117-8232delTGTGTGTGTGTGTGTGTGTGTG
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 610127
chr17:610127 TCACACAC
others(17): Show 
TCACACACACACACACACACACACA
 T
T
 1 a0002c0003t0104g0208
a0002c0003t0104g0208
 1 NA18987.hp1
NA18987.hp1
 intron_variant MODIFIER c.1117-8255_1117-823
others(28): Show 
c.1117-8255_1117-8232delTGTGTGTGTGTGTGTGTGTGTGTG
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 610127
chr17:610168 CACACACA
others(4): Show 
CACACACACACA
 C
C
 1 a0001c0007t0070g0112
a0001c0007t0070g0112
 1 HG01175.hp2
HG01175.hp2
 intron_variant MODIFIER c.1117-8283_1117-827
others(15): Show 
c.1117-8283_1117-8273delTGTGTGTGTGT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 610168
chr17:610245 G
G
 A
A
 1 a0001c0002t0050g0049
a0001c0002t0050g0049
 1 HG02280.hp1
HG02280.hp1
 intron_variant MODIFIER c.1117-8349C>T
c.1117-8349C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 610245
chr17:610526 C
C
 T
T
 1 a0001c0006t0057g0103
a0001c0006t0057g0103
 1 HG00280.hp2
HG00280.hp2
 intron_variant MODIFIER c.1117-8630G>A
c.1117-8630G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 610526
chr17:610569 G
G
 C
C
 4 a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
others(1): Show 
a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0011t0051g0091
 4 HG01074.hp2
NA18747.hp2
NA18984.hp2
others(1): Show 
HG01074.hp2
NA18747.hp2
NA18984.hp2
NA19064.hp2
 intron_variant MODIFIER c.1117-8673C>G
c.1117-8673C>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 610569
chr17:610612 A
A
 G
G
 230 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(227): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0017g0158
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0032g0114
a0001c0001t0032g0204
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0034g0126
a0001c0001t0034g0162
a0001c0001t0069g0012
a0001c0001t0084g0046
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0097g0199
a0001c0001t0098g0147
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0105g0201
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0108g0148
a0001c0001t0110g0127
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0118g0195
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0122g0160
a0001c0001t0123g0123
a0001c0001t0127g0159
a0001c0001t0128g0132
a0001c0001t0134g0154
a0001c0001t0138g0161
a0001c0001t0141g0165
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0001g0094
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0017g0225
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0035g0219
a0001c0002t0038g0224
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0050g0049
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0065g0093
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0077g0095
a0001c0002t0078g0041
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0002t0086g0221
a0001c0002t0100g0223
a0001c0002t0109g0222
a0001c0002t0125g0116
a0001c0002t0143g0226
a0001c0002t0149g0202
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0001c0011t0051g0091
a0001c0014t0135g0166
a0001c0015t0126g0149
a0001c0016t0052g0099
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0017g0179
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0018g0231
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0073g0068
a0002c0003t0085g0184
a0002c0003t0089g0175
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0099g0192
a0002c0003t0104g0208
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0145g0187
a0002c0003t0146g0170
a0002c0003t0148g0174
a0002c0003t0150g0191
a0002c0010t0038g0156
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
a0004c0008t0035g0203
a0004c0008t0036g0207
a0004c0008t0103g0227
a0004c0008t0124g0229
a0004c0008t0133g0232
a0004c0008t0142g0228
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
a0006c0012t0129g0140
a0007c0013t0132g0163
 230 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(227): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00621.hp1
HG00621.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02056.hp1
HG02056.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18955.hp1
NA18955.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18967.hp1
NA18967.hp2
NA18973.hp1
NA18973.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18990.hp1
NA18990.hp2
NA18994.hp1
NA18994.hp2
NA19000.hp1
NA19000.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19087.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1117-8716T>C
c.1117-8716T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 610612
chr17:610753 T
T
 TA
TA
 21 a0001c0001t0002g0210
a0001c0001t0016g0118
a0001c0001t0028g0196
others(18): Show 
a0001c0001t0002g0210
a0001c0001t0016g0118
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0084g0046
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0097g0199
a0001c0001t0105g0201
a0001c0001t0134g0154
a0001c0007t0070g0112
a0002c0003t0027g0169
a0002c0003t0036g0176
a0002c0003t0104g0208
a0002c0003t0131g0193
a0002c0003t0140g0194
a0002c0003t0144g0215
 21 HG00323.hp2
HG01070.hp2
HG01071.hp1
others(18): Show 
HG00323.hp2
HG01070.hp2
HG01071.hp1
HG01109.hp2
HG01175.hp2
HG01884.hp1
HG01891.hp2
HG02622.hp1
HG02622.hp2
HG02723.hp2
HG02738.hp2
HG02818.hp1
HG02922.hp2
HG03139.hp2
HG03516.hp1
NA18940.hp2
NA18967.hp2
NA18987.hp1
NA19000.hp1
NA20129.hp2
NA20300.hp1
 intron_variant MODIFIER c.1117-8858dupT
c.1117-8858dupT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 610753
chr17:610753 TA
TA
 T
T
 94 a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
others(91): Show 
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0001g0094
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0077g0095
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0011t0051g0091
a0001c0016t0052g0099
a0002c0003t0073g0068
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
 94 HG00099.hp2
HG00140.hp2
HG00280.hp1
others(91): Show 
HG00099.hp2
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00621.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01099.hp2
HG01106.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01255.hp1
HG01256.hp1
HG01257.hp2
HG01258.hp1
HG01361.hp1
HG01496.hp1
HG01515.hp2
HG01516.hp2
HG01517.hp1
HG01978.hp1
HG01981.hp2
HG02074.hp1
HG02109.hp1
HG02135.hp1
HG02135.hp2
HG02602.hp1
HG02738.hp1
HG02886.hp1
HG03491.hp1
HG03492.hp1
HG03688.hp1
HG03831.hp2
HG04204.hp2
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18945.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp2
NA18955.hp2
NA18957.hp1
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18967.hp1
NA18973.hp1
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18979.hp1
NA18984.hp1
NA18986.hp2
NA18990.hp1
NA18994.hp1
NA18994.hp2
NA19000.hp2
NA19007.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp2
NA19060.hp1
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19068.hp1
NA19070.hp1
NA19079.hp1
NA19080.hp1
NA19084.hp1
NA19087.hp1
NA19087.hp2
NA19090.hp1
NA19091.hp1
NA19091.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1117-8858delT
c.1117-8858delT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 610753
chr17:610772 T
T
 A
A
 14 a0001c0001t0084g0046
a0001c0002t0017g0225
a0001c0002t0035g0219
others(11): Show 
a0001c0001t0084g0046
a0001c0002t0017g0225
a0001c0002t0035g0219
a0001c0002t0038g0224
a0001c0002t0100g0223
a0001c0002t0109g0222
a0001c0002t0125g0116
a0001c0002t0143g0226
a0001c0002t0149g0202
a0004c0008t0035g0203
a0004c0008t0103g0227
a0004c0008t0124g0229
a0004c0008t0133g0232
a0004c0008t0142g0228
 14 HG00099.hp1
HG00140.hp1
HG00438.hp1
others(11): Show 
HG00099.hp1
HG00140.hp1
HG00438.hp1
HG01346.hp1
HG01516.hp1
HG03516.hp1
HG03942.hp2
HG04184.hp1
NA18944.hp2
NA18973.hp2
NA18990.hp2
NA19007.hp2
NA19011.hp1
NA19066.hp1
 intron_variant MODIFIER c.1117-8876A>T
c.1117-8876A>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 610772
chr17:610931 C
C
 G
G
 2 a0001c0002t0013g0083
a0001c0002t0079g0086
a0001c0002t0013g0083
a0001c0002t0079g0086
 2 HG01106.hp1
NA20805.hp2
HG01106.hp1
NA20805.hp2
 intron_variant MODIFIER c.1117-9035G>C
c.1117-9035G>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 610931
chr17:610954 A
A
 G
G
 1 a0003c0004t0061g0031
a0003c0004t0061g0031
 1 NA18978.hp1
NA18978.hp1
 intron_variant MODIFIER c.1117-9058T>C
c.1117-9058T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 610954
chr17:611036 T
T
 C
C
 45 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(42): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0034g0126
a0001c0001t0069g0012
a0001c0001t0094g0129
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0108g0148
a0001c0001t0110g0127
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0123g0123
a0001c0001t0128g0132
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0006c0012t0129g0140
 45 HG00423.hp2
HG00741.hp2
HG01081.hp2
others(42): Show 
HG00423.hp2
HG00741.hp2
HG01081.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp2
HG01361.hp2
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp2
HG01928.hp2
HG01978.hp2
HG02040.hp2
HG02056.hp2
HG02083.hp2
HG02109.hp2
HG02129.hp2
HG02132.hp2
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02602.hp2
HG03492.hp2
HG03688.hp2
HG04184.hp2
HG04199.hp2
NA18940.hp2
NA18945.hp2
NA18950.hp1
NA18961.hp1
NA18967.hp2
NA18978.hp2
NA18983.hp2
NA18987.hp2
NA19009.hp2
NA19060.hp2
NA19065.hp2
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19079.hp2
NA19081.hp2
 intron_variant MODIFIER c.1117-9140A>G
c.1117-9140A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 611036
chr17:611075 G
G
 A
A
 3 a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0134g0154
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0134g0154
 3 HG01891.hp2
NA20129.hp2
NA20300.hp1
HG01891.hp2
NA20129.hp2
NA20300.hp1
 intron_variant MODIFIER c.1117-9179C>T
c.1117-9179C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 611075
chr17:611139 G
G
 A
A
 1 a0001c0002t0014g0074
a0001c0002t0014g0074
 1 HG01255.hp1
HG01255.hp1
 intron_variant MODIFIER c.1117-9243C>T
c.1117-9243C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 611139
chr17:611384 G
G
 T
T
 230 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(227): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0017g0158
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0032g0114
a0001c0001t0032g0204
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0034g0126
a0001c0001t0034g0162
a0001c0001t0069g0012
a0001c0001t0084g0046
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0097g0199
a0001c0001t0098g0147
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0105g0201
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0108g0148
a0001c0001t0110g0127
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0118g0195
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0122g0160
a0001c0001t0123g0123
a0001c0001t0127g0159
a0001c0001t0128g0132
a0001c0001t0134g0154
a0001c0001t0138g0161
a0001c0001t0141g0165
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0001g0094
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0017g0225
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0035g0219
a0001c0002t0038g0224
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0050g0049
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0065g0093
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0077g0095
a0001c0002t0078g0041
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0002t0086g0221
a0001c0002t0100g0223
a0001c0002t0109g0222
a0001c0002t0125g0116
a0001c0002t0143g0226
a0001c0002t0149g0202
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0001c0011t0051g0091
a0001c0014t0135g0166
a0001c0015t0126g0149
a0001c0016t0052g0099
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0017g0179
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0018g0231
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0073g0068
a0002c0003t0085g0184
a0002c0003t0089g0175
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0099g0192
a0002c0003t0104g0208
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0145g0187
a0002c0003t0146g0170
a0002c0003t0148g0174
a0002c0003t0150g0191
a0002c0010t0038g0156
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
a0004c0008t0035g0203
a0004c0008t0036g0207
a0004c0008t0103g0227
a0004c0008t0124g0229
a0004c0008t0133g0232
a0004c0008t0142g0228
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
a0006c0012t0129g0140
a0007c0013t0132g0163
 230 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(227): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00621.hp1
HG00621.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02056.hp1
HG02056.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18955.hp1
NA18955.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18967.hp1
NA18967.hp2
NA18973.hp1
NA18973.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18990.hp1
NA18990.hp2
NA18994.hp1
NA18994.hp2
NA19000.hp1
NA19000.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19087.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1117-9488C>A
c.1117-9488C>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 611384
chr17:611440 C
C
 A
A
 230 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(227): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0017g0158
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0032g0114
a0001c0001t0032g0204
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0034g0126
a0001c0001t0034g0162
a0001c0001t0069g0012
a0001c0001t0084g0046
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0097g0199
a0001c0001t0098g0147
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0105g0201
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0108g0148
a0001c0001t0110g0127
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0118g0195
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0122g0160
a0001c0001t0123g0123
a0001c0001t0127g0159
a0001c0001t0128g0132
a0001c0001t0134g0154
a0001c0001t0138g0161
a0001c0001t0141g0165
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0001g0094
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0017g0225
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0035g0219
a0001c0002t0038g0224
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0050g0049
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0065g0093
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0077g0095
a0001c0002t0078g0041
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0002t0086g0221
a0001c0002t0100g0223
a0001c0002t0109g0222
a0001c0002t0125g0116
a0001c0002t0143g0226
a0001c0002t0149g0202
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0001c0011t0051g0091
a0001c0014t0135g0166
a0001c0015t0126g0149
a0001c0016t0052g0099
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0017g0179
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0018g0231
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0073g0068
a0002c0003t0085g0184
a0002c0003t0089g0175
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0099g0192
a0002c0003t0104g0208
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0145g0187
a0002c0003t0146g0170
a0002c0003t0148g0174
a0002c0003t0150g0191
a0002c0010t0038g0156
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
a0004c0008t0035g0203
a0004c0008t0036g0207
a0004c0008t0103g0227
a0004c0008t0124g0229
a0004c0008t0133g0232
a0004c0008t0142g0228
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
a0006c0012t0129g0140
a0007c0013t0132g0163
 230 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(227): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00621.hp1
HG00621.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02056.hp1
HG02056.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18955.hp1
NA18955.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18967.hp1
NA18967.hp2
NA18973.hp1
NA18973.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18990.hp1
NA18990.hp2
NA18994.hp1
NA18994.hp2
NA19000.hp1
NA19000.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19087.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1117-9544G>T
c.1117-9544G>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 611440
chr17:611443 G
G
 A
A
 1 a0002c0003t0144g0215
a0002c0003t0144g0215
 1 HG02738.hp2
HG02738.hp2
 intron_variant MODIFIER c.1117-9547C>T
c.1117-9547C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 611443
chr17:611492 T
T
 C
C
 1 a0001c0001t0107g0212
a0001c0001t0107g0212
 1 HG01255.hp2
HG01255.hp2
 intron_variant MODIFIER c.1117-9596A>G
c.1117-9596A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 611492
chr17:611540 G
G
 T
T
 1 a0001c0001t0034g0126
a0001c0001t0034g0126
 1 HG01256.hp2
HG01256.hp2
 intron_variant MODIFIER c.1117-9644C>A
c.1117-9644C>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 611540
chr17:611627 A
A
 G
G
 1 a0001c0001t0097g0199
a0001c0001t0097g0199
 1 HG02922.hp2
HG02922.hp2
 intron_variant MODIFIER c.1117-9731T>C
c.1117-9731T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 611627
chr17:611661 C
C
 G
G
 10 a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
others(7): Show 
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
 10 HG02135.hp2
HG02602.hp1
NA18747.hp1
others(7): Show 
HG02135.hp2
HG02602.hp1
NA18747.hp1
NA18955.hp2
NA18960.hp2
NA18994.hp2
NA19000.hp2
NA19010.hp2
NA19087.hp1
NA19091.hp1
 intron_variant MODIFIER c.1117-9765G>C
c.1117-9765G>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 611661
chr17:611662 C
C
 T
T
 1 a0001c0002t0001g0082
a0001c0002t0001g0082
 1 HG02886.hp1
HG02886.hp1
 intron_variant MODIFIER c.1117-9766G>A
c.1117-9766G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 611662
chr17:611746 G
G
 A
A
 1 a0001c0001t0084g0046
a0001c0001t0084g0046
 1 HG03516.hp1
HG03516.hp1
 intron_variant MODIFIER c.1117-9850C>T
c.1117-9850C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 611746
chr17:611886 C
C
 T
T
 4 a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
others(1): Show 
a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0011t0051g0091
 4 HG01074.hp2
NA18747.hp2
NA18984.hp2
others(1): Show 
HG01074.hp2
NA18747.hp2
NA18984.hp2
NA19064.hp2
 intron_variant MODIFIER c.1117-9990G>A
c.1117-9990G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 611886
chr17:612069 A
A
 C
C
 53 a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
others(50): Show 
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0016t0052g0099
a0002c0003t0073g0068
 53 HG00099.hp2
HG00140.hp2
HG00280.hp1
others(50): Show 
HG00099.hp2
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00621.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01099.hp2
HG01106.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01361.hp1
HG01496.hp1
HG01515.hp2
HG01978.hp1
HG01981.hp2
HG02135.hp1
HG02738.hp1
HG02886.hp1
HG03491.hp1
HG03492.hp1
HG03688.hp1
HG04204.hp2
NA18906.hp2
NA18940.hp1
NA18944.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18959.hp2
NA18960.hp1
NA18962.hp2
NA18967.hp1
NA18973.hp1
NA18977.hp2
NA18979.hp1
NA19007.hp1
NA19009.hp1
NA19065.hp1
NA19070.hp1
NA19079.hp1
NA19084.hp1
NA19090.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1117-10173T>G
c.1117-10173T>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 612069
chr17:612107 T
T
 C
C
 10 a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
others(7): Show 
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
 10 HG02135.hp2
HG02602.hp1
NA18747.hp1
others(7): Show 
HG02135.hp2
HG02602.hp1
NA18747.hp1
NA18955.hp2
NA18960.hp2
NA18994.hp2
NA19000.hp2
NA19010.hp2
NA19087.hp1
NA19091.hp1
 intron_variant MODIFIER c.1117-10211A>G
c.1117-10211A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 612107
chr17:612184 C
C
 T
T
 1 a0002c0003t0136g0216
a0002c0003t0136g0216
 1 HG03831.hp1
HG03831.hp1
 intron_variant MODIFIER c.1117-10288G>A
c.1117-10288G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 612184
chr17:612187 T
T
 C
C
 2 a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0028g0196
a0001c0001t0028g0197
 2 HG02622.hp1
HG02723.hp2
HG02622.hp1
HG02723.hp2
 intron_variant MODIFIER c.1117-10291A>G
c.1117-10291A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 612187
chr17:612263 T
T
 G
G
 14 a0001c0002t0017g0225
a0001c0002t0035g0219
a0001c0002t0038g0224
others(11): Show 
a0001c0002t0017g0225
a0001c0002t0035g0219
a0001c0002t0038g0224
a0001c0002t0086g0221
a0001c0002t0100g0223
a0001c0002t0109g0222
a0001c0002t0125g0116
a0001c0002t0143g0226
a0001c0002t0149g0202
a0004c0008t0035g0203
a0004c0008t0103g0227
a0004c0008t0124g0229
a0004c0008t0133g0232
a0004c0008t0142g0228
 14 HG00099.hp1
HG00140.hp1
HG00438.hp1
others(11): Show 
HG00099.hp1
HG00140.hp1
HG00438.hp1
HG01346.hp1
HG01516.hp1
HG02145.hp1
HG03942.hp2
HG04184.hp1
NA18944.hp2
NA18973.hp2
NA18990.hp2
NA19007.hp2
NA19011.hp1
NA19066.hp1
 intron_variant MODIFIER c.1117-10367A>C
c.1117-10367A>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 612263
chr17:612267 G
G
 A
A
 30 a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
others(27): Show 
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
 30 HG01257.hp2
HG01516.hp2
HG01517.hp1
others(27): Show 
HG01257.hp2
HG01516.hp2
HG01517.hp1
HG02074.hp1
HG02109.hp1
HG03831.hp2
NA18612.hp2
NA18906.hp1
NA18945.hp1
NA18950.hp2
NA18957.hp1
NA18959.hp1
NA18961.hp2
NA18962.hp1
NA18977.hp1
NA18978.hp1
NA18984.hp1
NA18986.hp2
NA18990.hp1
NA18994.hp1
NA19011.hp2
NA19060.hp1
NA19064.hp1
NA19068.hp1
NA19080.hp1
NA19081.hp1
NA19087.hp2
NA19091.hp2
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.1117-10371C>T
c.1117-10371C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 612267
chr17:612269 G
G
 C
C
 1 a0002c0003t0145g0187
a0002c0003t0145g0187
 1 HG04199.hp1
HG04199.hp1
 intron_variant MODIFIER c.1117-10373C>G
c.1117-10373C>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 612269
chr17:612279 TGAAAACC
others(173): Show 
TGAAAACCTGTACAGATATTCACAGCAGTATTCAAATAGTGAATTCACAC
AGTGAAAACCTGTACAAATATTCACATAGTGAGTTCACACAGTGAAAACC
TGTACAGATATTCACAGCAGTATTCAAATAGTGAATTCACACAGTGAAAA
CCTGTACAAATATTCACATAGTTCACACAGC
 T
T
 4 a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
others(1): Show 
a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0011t0051g0091
 4 HG01074.hp2
NA18747.hp2
NA18984.hp2
others(1): Show 
HG01074.hp2
NA18747.hp2
NA18984.hp2
NA19064.hp2
 intron_variant MODIFIER c.1117-10563_1117-10
others(6): Show 
c.1117-10563_1117-10384del
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 612279
chr17:612343 C
C
 A
A
 11 a0001c0002t0078g0041
a0001c0005t0010g0008
a0001c0005t0019g0006
others(8): Show 
a0001c0002t0078g0041
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
 11 HG02135.hp2
HG02602.hp1
HG03516.hp2
others(8): Show 
HG02135.hp2
HG02602.hp1
HG03516.hp2
NA18747.hp1
NA18955.hp2
NA18960.hp2
NA18994.hp2
NA19000.hp2
NA19010.hp2
NA19087.hp1
NA19091.hp1
 intron_variant MODIFIER c.1117-10447G>T
c.1117-10447G>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 612343
chr17:612371 T
T
 TGAAAACC
others(265): Show 
TGAAAACCTGTACAGATATTCACAGCAGTATTCAAATAGTGAATTCACAC
AGTGAAAACCTGTACAAATATTCACATAGTTCACACAGCGAAAACCTGTA
CAGATATTCACAGCAGTATTCAAATAGTGAATTCACACAGTGAAAACCTG
TACAAATATTCACATAGTGAGTTCACACAGTGAAAACCTGTACAGATACT
CACAGCAGTAATCAAATAGTGAATTCACACAGTGAAAACCTGTACAAATA
TTCATATAGTGAGTTCACACAGC
 1 a0001c0002t0125g0116
a0001c0002t0125g0116
 1 NA19007.hp2
NA19007.hp2
 intron_variant MODIFIER c.1117-10747_1117-10
others(278): Show 
c.1117-10747_1117-10476dupGCTGTGTGAACTCACTATATGAAT
ATTTGTACAGGTTTTCACTGTGTGAATTCACTATTTGATTACTGCTGTGA
GTATCTGTACAGGTTTTCACTGTGTGAACTCACTATGTGAATATTTGTAC
AGGTTTTCACTGTGTGAATTCACTATTTGAATACTGCTGTGAATATCTGT
ACAGGTTTTCGCTGTGTGAACTATGTGAATATTTGTACAGGTTTTCACTG
TGTGAATTCACTATTTGAATACTGCTGTGAATATCTGTACAGGTTTTC
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 612371
chr17:612392 ACAG
ACAG
 A
A
 50 a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
others(47): Show 
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0016t0052g0099
a0002c0003t0073g0068
 50 HG00140.hp2
HG00280.hp1
HG00280.hp2
others(47): Show 
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00621.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01099.hp2
HG01106.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01361.hp1
HG01496.hp1
HG01515.hp2
HG01978.hp1
HG01981.hp2
HG02135.hp1
HG02738.hp1
HG02886.hp1
HG03491.hp1
HG03492.hp1
HG03688.hp1
HG04204.hp2
NA18906.hp2
NA18940.hp1
NA18944.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18959.hp2
NA18960.hp1
NA18962.hp2
NA18967.hp1
NA18977.hp2
NA18979.hp1
NA19007.hp1
NA19009.hp1
NA19065.hp1
NA19079.hp1
NA19084.hp1
NA19090.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1117-10499_1117-10
others(9): Show 
c.1117-10499_1117-10497delCTG
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 612392
chr17:612395 G
G
 GTATTCAA
others(171): Show 
GTATTCAAATAGTGAATTCACACAGTGAAAACCTGTACAAATATTCACAT
AGTGAGTTCACACAGTGAAAACCTGTACAGATATTCACAGCAGTATTCAA
ATAGTGAATTCACACAGTGAAAACCTGTACAAATATTCACATAGTGAGTT
CACACAGTGAAAACCTGTACAGATATTCA
 2 a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0075g0051
a0001c0002t0076g0050
 2 NA18973.hp1
NA19070.hp1
NA18973.hp1
NA19070.hp1
 intron_variant MODIFIER c.1117-10500_1117-10
others(184): Show 
c.1117-10500_1117-10499insTGAATATCTGTACAGGTTTTCACT
GTGTGAACTCACTATGTGAATATTTGTACAGGTTTTCACTGTGTGAATTC
ACTATTTGAATACTGCTGTGAATATCTGTACAGGTTTTCACTGTGTGAAC
TCACTATGTGAATATTTGTACAGGTTTTCACTGTGTGAATTCACTATTTG
AATA
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 612395
chr17:612459 C
C
 T
T
 10 a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
others(7): Show 
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
 10 HG02135.hp2
HG02602.hp1
NA18747.hp1
others(7): Show 
HG02135.hp2
HG02602.hp1
NA18747.hp1
NA18955.hp2
NA18960.hp2
NA18994.hp2
NA19000.hp2
NA19010.hp2
NA19087.hp1
NA19091.hp1
 intron_variant MODIFIER c.1117-10563G>A
c.1117-10563G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 612459
chr17:612477 TTCACAGC
others(357): Show 
TTCACAGCAGTATTCAAATAGTGAATTCACACAGTGAAAACCTGTACAAA
TATTCACATAGTGAGTTCACACAGTGAAAACCTGTACAGATACTCACAGC
AGTAATCAAATAGTGAATTCACACAGTGAAAACCTGTACAAATATTCATA
TAGTGAGTTCACACAGCGAAAACCTGTACAGATATTCACAGCAGTATTCA
AATAGTGAATTCACACAGTGAAAACCTGTACAAATATTCACATAGTTCAC
ACAGCGAAAACCTGTACAGATATTCACAGCAGTATTCAAATAGTGAATTC
ACACAGTGAAAACCTGTACAAATATTCACATAGTGAGTTCACACAGTGAA
AACCTGTACAGATAC
 T
T
 1 a0001c0001t0123g0123
a0001c0001t0123g0123
 1 NA19081.hp2
NA19081.hp2
 intron_variant MODIFIER c.1116+10692_1117-10
others(6): Show 
c.1116+10692_1117-10582del
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 612477
chr17:612531 C
C
 T
T
 6 a0001c0001t0017g0158
a0001c0001t0034g0162
a0001c0001t0122g0160
others(3): Show 
a0001c0001t0017g0158
a0001c0001t0034g0162
a0001c0001t0122g0160
a0001c0001t0138g0161
a0001c0001t0141g0165
a0007c0013t0132g0163
 6 HG00741.hp1
HG01106.hp2
HG01109.hp1
others(3): Show 
HG00741.hp1
HG01106.hp2
HG01109.hp1
HG01257.hp1
HG01258.hp2
HG04204.hp1
 intron_variant MODIFIER c.1117-10635G>A
c.1117-10635G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 612531
chr17:612561 TAC
TAC
 T
T
 12 a0001c0001t0017g0158
a0001c0001t0032g0204
a0001c0001t0033g0205
others(9): Show 
a0001c0001t0017g0158
a0001c0001t0032g0204
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0034g0162
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0122g0160
a0001c0001t0127g0159
a0001c0001t0138g0161
a0001c0001t0141g0165
a0007c0013t0132g0163
 12 HG00741.hp1
HG01106.hp2
HG01109.hp1
others(9): Show 
HG00741.hp1
HG01106.hp2
HG01109.hp1
HG01257.hp1
HG01258.hp2
HG01891.hp1
HG02886.hp2
HG02895.hp2
HG02922.hp1
HG03225.hp1
HG04204.hp1
NA20129.hp1
 intron_variant MODIFIER c.1117-10667_1117-10
others(8): Show 
c.1117-10667_1117-10666delGT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 612561
chr17:612566 A
A
 G
G
 30 a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
others(27): Show 
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
 30 HG01257.hp2
HG01516.hp2
HG01517.hp1
others(27): Show 
HG01257.hp2
HG01516.hp2
HG01517.hp1
HG02074.hp1
HG02109.hp1
HG03831.hp2
NA18612.hp2
NA18906.hp1
NA18945.hp1
NA18950.hp2
NA18957.hp1
NA18959.hp1
NA18961.hp2
NA18962.hp1
NA18977.hp1
NA18978.hp1
NA18984.hp1
NA18986.hp2
NA18990.hp1
NA18994.hp1
NA19011.hp2
NA19060.hp1
NA19064.hp1
NA19068.hp1
NA19080.hp1
NA19081.hp1
NA19087.hp2
NA19091.hp2
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.1117-10670T>C
c.1117-10670T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 612566
chr17:612687 TCA
TCA
 T
T
 10 a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
others(7): Show 
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
 10 HG02135.hp2
HG02602.hp1
NA18747.hp1
others(7): Show 
HG02135.hp2
HG02602.hp1
NA18747.hp1
NA18955.hp2
NA18960.hp2
NA18994.hp2
NA19000.hp2
NA19010.hp2
NA19087.hp1
NA19091.hp1
 intron_variant MODIFIER c.1117-10793_1117-10
others(8): Show 
c.1117-10793_1117-10792delTG
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 612687
chr17:612741 T
T
 TACAGATA
others(671): Show 
TACAGATATTCACAGCAGTATTCAAATAGTGAATTCACACAGTGAAAACC
TGTACAAATATTCACATAGTGAGTTCACACAGTGAAAACCTGTACAGATA
CTCACAGCAGTATTCAAATAGTGAATTCACACAGTGAAAACCTGTACAAA
TATTCACATAGTTCACACAGTGAAAACCTGCACAGATATTCACAGCAGTA
TTCAAATAGTGAATTCACACAGTGAAAACCTGTACAAATATTCACATAGT
GAGTTCACACAGTGAAAACCTGTACAGATATTCACAGCAGTATTCAAATA
GTGAATTCACACAGTGAAAACCTGTACAAATATTCACATAGTGAGTTCAC
ACAGTGAAAACCTGTACAGATATTCACAGCAGTATTCACACAGTGAAAAC
CTGTACAGATATTCACAGCAGTATTCAAATAGTGAATTCACACAGTGAAA
ACCTGTACAAATATTCACATAGTGAGTTCACACAGTGAAAACCTGCACAG
ATATTCACAGCAGTATTCACACAGTGAAAACCTGTACAGATATTCACAGC
AGTATTCAAATAGTGAATTCACACAGTGAAAACCTGTACAAATATTCACA
TAGTGAGTTCACACAGTGAAAACCTGCACAGATATTCACAGCAGTAATCA
AATAGTGAATTCACACAGTGAAAACCTGC
 1 a0001c0001t0108g0148
a0001c0001t0108g0148
 1 HG01192.hp1
HG01192.hp1
 intron_variant MODIFIER c.1116+10114_1116+10
others(684): Show 
c.1116+10114_1116+10791dupGCAGGTTTTCACTGTGTGAATTCA
CTATTTGATTACTGCTGTGAATATCTGTGCAGGTTTTCACTGTGTGAACT
CACTATGTGAATATTTGTACAGGTTTTCACTGTGTGAATTCACTATTTGA
ATACTGCTGTGAATATCTGTACAGGTTTTCACTGTGTGAATACTGCTGTG
AATATCTGTGCAGGTTTTCACTGTGTGAACTCACTATGTGAATATTTGTA
CAGGTTTTCACTGTGTGAATTCACTATTTGAATACTGCTGTGAATATCTG
TACAGGTTTTCACTGTGTGAATACTGCTGTGAATATCTGTACAGGTTTTC
ACTGTGTGAACTCACTATGTGAATATTTGTACAGGTTTTCACTGTGTGAA
TTCACTATTTGAATACTGCTGTGAATATCTGTACAGGTTTTCACTGTGTG
AACTCACTATGTGAATATTTGTACAGGTTTTCACTGTGTGAATTCACTAT
TTGAATACTGCTGTGAATATCTGTGCAGGTTTTCACTGTGTGAACTATGT
GAATATTTGTACAGGTTTTCACTGTGTGAATTCACTATTTGAATACTGCT
GTGAGTATCTGTACAGGTTTTCACTGTGTGAACTCACTATGTGAATATTT
GTACAGGTTTTCACTGTGTGAATTCACTATTTGAATACTGCTGTGAATAT
CTGT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 612741
chr17:612820 C
C
 G
G
 3 a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
 3 NA18747.hp2
NA18984.hp2
NA19064.hp2
NA18747.hp2
NA18984.hp2
NA19064.hp2
 intron_variant MODIFIER c.1116+10713G>C
c.1116+10713G>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 612820
chr17:612921 CACAGATA
others(85): Show 
CACAGATATTCACAGCAGTATTCAAATAGTGAATTCACACAGTGAAAACC
TGTACAAATATTCACATAGTGAGTTCACACAGTGAAAACCTGT
 C
C
 1 a0001c0001t0098g0147
a0001c0001t0098g0147
 1 HG02818.hp2
HG02818.hp2
 intron_variant MODIFIER c.1116+10520_1116+10
others(98): Show 
c.1116+10520_1116+10611delACAGGTTTTCACTGTGTGAACTCA
CTATGTGAATATTTGTACAGGTTTTCACTGTGTGAATTCACTATTTGAAT
ACTGCTGTGAATATCTGT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 612921
chr17:613140 C
C
 A
A
 4 a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
others(1): Show 
a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0011t0051g0091
 4 HG01074.hp2
NA18747.hp2
NA18984.hp2
others(1): Show 
HG01074.hp2
NA18747.hp2
NA18984.hp2
NA19064.hp2
 intron_variant MODIFIER c.1116+10393G>T
c.1116+10393G>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 613140
chr17:613201 A
A
 T
T
 1 a0001c0002t0048g0089
a0001c0002t0048g0089
 1 NA19090.hp1
NA19090.hp1
 intron_variant MODIFIER c.1116+10332T>A
c.1116+10332T>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 613201
chr17:613255 ATTCACAC
others(361): Show 
ATTCACACAGTGAAAACCTGTACAGATATTCACAGCAGTATTCAAATAGT
GAATTCACACAGTGAAAACCTGTACAAATATTCACATAGTGAGTTCACAC
AGTGAAAACCTGCACAGATATTCACAGCAGTAATCAAATAGTGAATTCAC
ACAGTGAAAACCTGCACAGATATTCACAGCAGTATTCAAATAGTGAATTC
ACACAGTGAAAACCTGTACAAATATTCACATAGTGAGTTCACACAGTGAA
AACCTGTACAAATATTCACATAGTGAGTTCACACAGTGAAAACCTGTACA
GATATTCACAGCAGTATTCAAATAGTGAATTCACACAGTGAAAACCTGTA
CAAATATTCACATAGTGAG
 A
A
 1 a0007c0013t0132g0163
a0007c0013t0132g0163
 1 HG04204.hp1
HG04204.hp1
 intron_variant MODIFIER c.1116+9910_1116+102
others(5): Show 
c.1116+9910_1116+10277del
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 613255
chr17:613306 A
A
 T
T
 1 a0001c0011t0051g0091
a0001c0011t0051g0091
 1 HG01074.hp2
HG01074.hp2
 intron_variant MODIFIER c.1116+10227T>A
c.1116+10227T>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 613306
chr17:613985 C
C
 T
T
 1 a0001c0001t0002g0213
a0001c0001t0002g0213
 1 HG03688.hp2
HG03688.hp2
 intron_variant MODIFIER c.1116+9548G>A
c.1116+9548G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 613985
chr17:614032 T
T
 A
A
 1 a0003c0004t0004g0026
a0003c0004t0004g0026
 1 NA18990.hp1
NA18990.hp1
 intron_variant MODIFIER c.1116+9501A>T
c.1116+9501A>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 614032
chr17:614071 C
C
 A
A
 2 a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0101g0200
a0001c0001t0102g0220
 2 HG02572.hp2
HG03139.hp1
HG02572.hp2
HG03139.hp1
 intron_variant MODIFIER c.1116+9462G>T
c.1116+9462G>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 614071
chr17:614179 G
G
 A
A
 65 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(62): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0032g0114
a0001c0001t0034g0126
a0001c0001t0069g0012
a0001c0001t0087g0198
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0098g0147
a0001c0001t0105g0201
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0108g0148
a0001c0001t0110g0127
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0123g0123
a0001c0001t0128g0132
a0001c0002t0017g0225
a0001c0002t0035g0219
a0001c0002t0038g0224
a0001c0002t0086g0221
a0001c0002t0100g0223
a0001c0002t0109g0222
a0001c0002t0125g0116
a0001c0002t0143g0226
a0001c0002t0149g0202
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0004c0008t0035g0203
a0004c0008t0103g0227
a0004c0008t0124g0229
a0004c0008t0133g0232
a0004c0008t0142g0228
a0006c0012t0129g0140
 65 HG00099.hp1
HG00140.hp1
HG00423.hp2
others(62): Show 
HG00099.hp1
HG00140.hp1
HG00423.hp2
HG00438.hp1
HG00741.hp2
HG01081.hp2
HG01109.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp2
HG01346.hp1
HG01361.hp2
HG01496.hp2
HG01515.hp1
HG01516.hp1
HG01517.hp2
HG01884.hp2
HG01928.hp2
HG01978.hp2
HG02040.hp2
HG02056.hp2
HG02083.hp2
HG02109.hp2
HG02129.hp2
HG02132.hp2
HG02145.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02602.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG03225.hp2
HG03492.hp2
HG03688.hp2
HG03942.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp2
NA18940.hp2
NA18944.hp2
NA18945.hp2
NA18950.hp1
NA18961.hp1
NA18967.hp2
NA18973.hp2
NA18978.hp2
NA18983.hp2
NA18987.hp2
NA18990.hp2
NA19007.hp2
NA19009.hp2
NA19011.hp1
NA19060.hp2
NA19065.hp2
NA19066.hp1
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19079.hp2
NA19081.hp2
NA20300.hp2
 intron_variant MODIFIER c.1116+9354C>T
c.1116+9354C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 614179
chr17:614235 G
G
 A
A
 2 a0001c0001t0002g0213
a0001c0001t0034g0126
a0001c0001t0002g0213
a0001c0001t0034g0126
 2 HG01256.hp2
HG03688.hp2
HG01256.hp2
HG03688.hp2
 intron_variant MODIFIER c.1116+9298C>T
c.1116+9298C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 614235
chr17:614281 T
T
 A
A
 53 a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
others(50): Show 
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0016t0052g0099
a0002c0003t0073g0068
 53 HG00099.hp2
HG00140.hp2
HG00280.hp1
others(50): Show 
HG00099.hp2
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00621.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01099.hp2
HG01106.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01361.hp1
HG01496.hp1
HG01515.hp2
HG01978.hp1
HG01981.hp2
HG02135.hp1
HG02738.hp1
HG02886.hp1
HG03491.hp1
HG03492.hp1
HG03688.hp1
HG04204.hp2
NA18906.hp2
NA18940.hp1
NA18944.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18959.hp2
NA18960.hp1
NA18962.hp2
NA18967.hp1
NA18973.hp1
NA18977.hp2
NA18979.hp1
NA19007.hp1
NA19009.hp1
NA19065.hp1
NA19070.hp1
NA19079.hp1
NA19084.hp1
NA19090.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1116+9252A>T
c.1116+9252A>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 614281
chr17:614459 C
C
 T
T
 3 a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0134g0154
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0134g0154
 3 HG01891.hp2
NA20129.hp2
NA20300.hp1
HG01891.hp2
NA20129.hp2
NA20300.hp1
 intron_variant MODIFIER c.1116+9074G>A
c.1116+9074G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 614459
chr17:614667 C
C
 T
T
 15 a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
others(12): Show 
a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0002t0078g0041
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0011t0051g0091
 15 HG01074.hp2
HG02135.hp2
HG02602.hp1
others(12): Show 
HG01074.hp2
HG02135.hp2
HG02602.hp1
HG03516.hp2
NA18747.hp1
NA18747.hp2
NA18955.hp2
NA18960.hp2
NA18984.hp2
NA18994.hp2
NA19000.hp2
NA19010.hp2
NA19064.hp2
NA19087.hp1
NA19091.hp1
 intron_variant MODIFIER c.1116+8866G>A
c.1116+8866G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 614667
chr17:614679 G
G
 A
A
 1 a0001c0014t0135g0166
a0001c0014t0135g0166
 1 HG02572.hp1
HG02572.hp1
 intron_variant MODIFIER c.1116+8854C>T
c.1116+8854C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 614679
chr17:614830 A
A
 T
T
 230 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(227): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0017g0158
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0032g0114
a0001c0001t0032g0204
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0034g0126
a0001c0001t0034g0162
a0001c0001t0069g0012
a0001c0001t0084g0046
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0097g0199
a0001c0001t0098g0147
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0105g0201
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0108g0148
a0001c0001t0110g0127
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0118g0195
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0122g0160
a0001c0001t0123g0123
a0001c0001t0127g0159
a0001c0001t0128g0132
a0001c0001t0134g0154
a0001c0001t0138g0161
a0001c0001t0141g0165
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0001g0094
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0017g0225
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0035g0219
a0001c0002t0038g0224
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0050g0049
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0065g0093
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0077g0095
a0001c0002t0078g0041
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0002t0086g0221
a0001c0002t0100g0223
a0001c0002t0109g0222
a0001c0002t0125g0116
a0001c0002t0143g0226
a0001c0002t0149g0202
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0001c0011t0051g0091
a0001c0014t0135g0166
a0001c0015t0126g0149
a0001c0016t0052g0099
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0017g0179
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0018g0231
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0073g0068
a0002c0003t0085g0184
a0002c0003t0089g0175
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0099g0192
a0002c0003t0104g0208
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0145g0187
a0002c0003t0146g0170
a0002c0003t0148g0174
a0002c0003t0150g0191
a0002c0010t0038g0156
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
a0004c0008t0035g0203
a0004c0008t0036g0207
a0004c0008t0103g0227
a0004c0008t0124g0229
a0004c0008t0133g0232
a0004c0008t0142g0228
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
a0006c0012t0129g0140
a0007c0013t0132g0163
 230 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(227): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00621.hp1
HG00621.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02056.hp1
HG02056.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18955.hp1
NA18955.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18967.hp1
NA18967.hp2
NA18973.hp1
NA18973.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18990.hp1
NA18990.hp2
NA18994.hp1
NA18994.hp2
NA19000.hp1
NA19000.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19087.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1116+8703T>A
c.1116+8703T>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 614830
chr17:614880 G
G
 A
A
 191 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(188): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0017g0158
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0032g0114
a0001c0001t0032g0204
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0034g0126
a0001c0001t0034g0162
a0001c0001t0069g0012
a0001c0001t0084g0046
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0097g0199
a0001c0001t0098g0147
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0105g0201
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0108g0148
a0001c0001t0110g0127
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0118g0195
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0122g0160
a0001c0001t0123g0123
a0001c0001t0127g0159
a0001c0001t0128g0132
a0001c0001t0134g0154
a0001c0001t0138g0161
a0001c0001t0141g0165
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0001g0094
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0017g0225
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0035g0219
a0001c0002t0038g0224
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0065g0093
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0077g0095
a0001c0002t0078g0041
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0002t0086g0221
a0001c0002t0100g0223
a0001c0002t0109g0222
a0001c0002t0125g0116
a0001c0002t0143g0226
a0001c0002t0149g0202
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0001c0011t0051g0091
a0001c0014t0135g0166
a0001c0015t0126g0149
a0001c0016t0052g0099
a0002c0003t0073g0068
a0002c0010t0038g0156
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
a0004c0008t0035g0203
a0004c0008t0103g0227
a0004c0008t0124g0229
a0004c0008t0133g0232
a0004c0008t0142g0228
a0006c0012t0129g0140
a0007c0013t0132g0163
 191 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(188): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00423.hp2
HG00438.hp1
HG00621.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp2
HG02040.hp2
HG02056.hp2
HG02074.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp2
HG03942.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp2
HG04204.hp1
HG04204.hp2
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18955.hp2
NA18957.hp1
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18967.hp1
NA18967.hp2
NA18973.hp1
NA18973.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18986.hp2
NA18987.hp2
NA18990.hp1
NA18990.hp2
NA18994.hp1
NA18994.hp2
NA19000.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19081.hp1
NA19081.hp2
NA19084.hp1
NA19087.hp1
NA19087.hp2
NA19090.hp1
NA19091.hp1
NA19091.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1116+8653C>T
c.1116+8653C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 614880
chr17:614950 C
C
 A
A
 1 a0003c0004t0006g0022
a0003c0004t0006g0022
 1 NA18977.hp1
NA18977.hp1
 intron_variant MODIFIER c.1116+8583G>T
c.1116+8583G>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 614950
chr17:615160 T
T
 C
C
 4 a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
others(1): Show 
a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0011t0051g0091
 4 HG01074.hp2
NA18747.hp2
NA18984.hp2
others(1): Show 
HG01074.hp2
NA18747.hp2
NA18984.hp2
NA19064.hp2
 intron_variant MODIFIER c.1116+8373A>G
c.1116+8373A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 615160
chr17:615566 G
G
 A
A
 1 a0001c0001t0115g0136
a0001c0001t0115g0136
 1 HG03492.hp2
HG03492.hp2
 intron_variant MODIFIER c.1116+7967C>T
c.1116+7967C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 615566
chr17:615624 T
T
 G
G
 2 a0001c0002t0013g0083
a0001c0002t0079g0086
a0001c0002t0013g0083
a0001c0002t0079g0086
 2 HG01106.hp1
NA20805.hp2
HG01106.hp1
NA20805.hp2
 intron_variant MODIFIER c.1116+7909A>C
c.1116+7909A>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 615624
chr17:615775 T
T
 C
C
 98 a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
others(95): Show 
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0001g0094
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0065g0093
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0077g0095
a0001c0002t0078g0041
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0011t0051g0091
a0001c0016t0052g0099
a0002c0003t0073g0068
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
 98 HG00099.hp2
HG00140.hp2
HG00280.hp1
others(95): Show 
HG00099.hp2
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00621.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01099.hp2
HG01106.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01255.hp1
HG01256.hp1
HG01257.hp2
HG01258.hp1
HG01361.hp1
HG01496.hp1
HG01515.hp2
HG01516.hp2
HG01517.hp1
HG01978.hp1
HG01981.hp2
HG02074.hp1
HG02109.hp1
HG02135.hp1
HG02135.hp2
HG02602.hp1
HG02738.hp1
HG02886.hp1
HG03491.hp1
HG03492.hp1
HG03516.hp2
HG03688.hp1
HG03831.hp2
HG04204.hp2
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18944.hp1
NA18945.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp2
NA18955.hp2
NA18957.hp1
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18967.hp1
NA18973.hp1
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18979.hp1
NA18984.hp1
NA18984.hp2
NA18986.hp2
NA18990.hp1
NA18994.hp1
NA18994.hp2
NA19000.hp2
NA19007.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp2
NA19060.hp1
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19068.hp1
NA19070.hp1
NA19079.hp1
NA19080.hp1
NA19081.hp1
NA19084.hp1
NA19087.hp1
NA19087.hp2
NA19090.hp1
NA19091.hp1
NA19091.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1116+7758A>G
c.1116+7758A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 615775
chr17:615876 C
C
 T
T
 1 a0002c0003t0027g0181
a0002c0003t0027g0181
 1 NA19074.hp1
NA19074.hp1
 intron_variant MODIFIER c.1116+7657G>A
c.1116+7657G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 615876
chr17:616085 G
G
 A
A
 53 a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
others(50): Show 
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0016t0052g0099
a0002c0003t0073g0068
 53 HG00099.hp2
HG00140.hp2
HG00280.hp1
others(50): Show 
HG00099.hp2
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00621.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01099.hp2
HG01106.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01361.hp1
HG01496.hp1
HG01515.hp2
HG01978.hp1
HG01981.hp2
HG02135.hp1
HG02738.hp1
HG02886.hp1
HG03491.hp1
HG03492.hp1
HG03688.hp1
HG04204.hp2
NA18906.hp2
NA18940.hp1
NA18944.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18959.hp2
NA18960.hp1
NA18962.hp2
NA18967.hp1
NA18973.hp1
NA18977.hp2
NA18979.hp1
NA19007.hp1
NA19009.hp1
NA19065.hp1
NA19070.hp1
NA19079.hp1
NA19084.hp1
NA19090.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1116+7448C>T
c.1116+7448C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 616085
chr17:616314 G
G
 A
A
 10 a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
others(7): Show 
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0016t0052g0099
 10 HG00280.hp2
HG01099.hp2
HG01168.hp2
others(7): Show 
HG00280.hp2
HG01099.hp2
HG01168.hp2
HG01175.hp1
HG01515.hp2
HG01981.hp2
HG03491.hp1
HG03492.hp1
HG03688.hp1
NA18948.hp1
 intron_variant MODIFIER c.1116+7219C>T
c.1116+7219C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 616314
chr17:616367 C
C
 G
G
 2 a0001c0014t0135g0166
a0001c0015t0126g0149
a0001c0014t0135g0166
a0001c0015t0126g0149
 2 HG02572.hp1
HG02723.hp1
HG02572.hp1
HG02723.hp1
 intron_variant MODIFIER c.1116+7166G>C
c.1116+7166G>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 616367
chr17:616463 T
T
 G
G
 30 a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
others(27): Show 
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
 30 HG01257.hp2
HG01516.hp2
HG01517.hp1
others(27): Show 
HG01257.hp2
HG01516.hp2
HG01517.hp1
HG02074.hp1
HG02109.hp1
HG03831.hp2
NA18612.hp2
NA18906.hp1
NA18945.hp1
NA18950.hp2
NA18957.hp1
NA18959.hp1
NA18961.hp2
NA18962.hp1
NA18977.hp1
NA18978.hp1
NA18984.hp1
NA18986.hp2
NA18990.hp1
NA18994.hp1
NA19011.hp2
NA19060.hp1
NA19064.hp1
NA19068.hp1
NA19080.hp1
NA19081.hp1
NA19087.hp2
NA19091.hp2
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.1116+7070A>C
c.1116+7070A>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 616463
chr17:616501 A
A
 C
C
 1 a0001c0001t0029g0151
a0001c0001t0029g0151
 1 HG02622.hp2
HG02622.hp2
 intron_variant MODIFIER c.1116+7032T>G
c.1116+7032T>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 616501
chr17:616619 T
T
 C
C
 53 a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
others(50): Show 
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0016t0052g0099
a0002c0003t0073g0068
 53 HG00099.hp2
HG00140.hp2
HG00280.hp1
others(50): Show 
HG00099.hp2
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00621.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01099.hp2
HG01106.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01361.hp1
HG01496.hp1
HG01515.hp2
HG01978.hp1
HG01981.hp2
HG02135.hp1
HG02738.hp1
HG02886.hp1
HG03491.hp1
HG03492.hp1
HG03688.hp1
HG04204.hp2
NA18906.hp2
NA18940.hp1
NA18944.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18959.hp2
NA18960.hp1
NA18962.hp2
NA18967.hp1
NA18973.hp1
NA18977.hp2
NA18979.hp1
NA19007.hp1
NA19009.hp1
NA19065.hp1
NA19070.hp1
NA19079.hp1
NA19084.hp1
NA19090.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1116+6914A>G
c.1116+6914A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 616619
chr17:616625 G
G
 C
C
 4 a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
others(1): Show 
a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0011t0051g0091
 4 HG01074.hp2
NA18747.hp2
NA18984.hp2
others(1): Show 
HG01074.hp2
NA18747.hp2
NA18984.hp2
NA19064.hp2
 intron_variant MODIFIER c.1116+6908C>G
c.1116+6908C>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 616625
chr17:616759 A
A
 C
C
 1 a0001c0001t0118g0195
a0001c0001t0118g0195
 1 HG01346.hp2
HG01346.hp2
 intron_variant MODIFIER c.1116+6774T>G
c.1116+6774T>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 616759
chr17:617074 T
T
 C
C
 53 a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
others(50): Show 
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0016t0052g0099
a0002c0003t0073g0068
 53 HG00099.hp2
HG00140.hp2
HG00280.hp1
others(50): Show 
HG00099.hp2
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00621.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01099.hp2
HG01106.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01361.hp1
HG01496.hp1
HG01515.hp2
HG01978.hp1
HG01981.hp2
HG02135.hp1
HG02738.hp1
HG02886.hp1
HG03491.hp1
HG03492.hp1
HG03688.hp1
HG04204.hp2
NA18906.hp2
NA18940.hp1
NA18944.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18959.hp2
NA18960.hp1
NA18962.hp2
NA18967.hp1
NA18973.hp1
NA18977.hp2
NA18979.hp1
NA19007.hp1
NA19009.hp1
NA19065.hp1
NA19070.hp1
NA19079.hp1
NA19084.hp1
NA19090.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1116+6459A>G
c.1116+6459A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 617074
chr17:617151 G
G
 C
C
 4 a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
others(1): Show 
a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0011t0051g0091
 4 HG01074.hp2
NA18747.hp2
NA18984.hp2
others(1): Show 
HG01074.hp2
NA18747.hp2
NA18984.hp2
NA19064.hp2
 intron_variant MODIFIER c.1116+6382C>G
c.1116+6382C>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 617151
chr17:617407 C
C
 T
T
 1 a0001c0002t0109g0222
a0001c0002t0109g0222
 1 HG00099.hp1
HG00099.hp1
 intron_variant MODIFIER c.1116+6126G>A
c.1116+6126G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 617407
chr17:617527 AGGTAGCT
others(443): Show 
AGGTAGCTGGGACTACAGGCGTGCGCCACCACGCCCCACTAATATTTCCC
GGGTAGCTGGGACTACAGGCGTGCGCCATCAGGCCCCGCTATTATTTCCC
AGGTAGCTGGGACTACAGGCATGCACCACCACGCCCCACTAATATTTCCC
GGGTAGCTGGGACTACAGGCATGCGCCATCAGGCCCCGCTATTATTTCCC
AGGTAGCTGGGACTACAGGCATGCGCCACCACGCCCCACTAATATTTCCC
GGGTAGCTGGGACTACAGGCGTGCGCCACCACGCCCCACTAATATTTCCC
GGGTAGCTGGGACTACAGGCGTGCGCCACCACGCCCCACTAATATTTCCC
GGGTAGCTGGGACTACAGGCGTGCACCACCACGCCCCACTAATGTTTCCC
GGGTAGCTGGGACTACAGGCGTGCGCCACCACGCCCCACTAATATTTCCC
G
 A
A
 1 a0003c0004t0006g0016
a0003c0004t0006g0016
 1 NA18962.hp1
NA18962.hp1
 intron_variant MODIFIER c.1116+5556_1116+600
others(4): Show 
c.1116+5556_1116+6005del
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 617527
chr17:617539 C
C
 A
A
 4 a0002c0003t0018g0214
a0005c0009t0130g0178
a0005c0009t0137g0189
others(1): Show 
a0002c0003t0018g0214
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
 4 HG00621.hp1
NA18946.hp1
NA18955.hp1
others(1): Show 
HG00621.hp1
NA18946.hp1
NA18955.hp1
NA19066.hp2
 intron_variant MODIFIER c.1116+5994G>T
c.1116+5994G>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 617539
chr17:617676 C
C
 T
T
 11 a0001c0001t0017g0158
a0001c0001t0033g0205
a0001c0001t0033g0206
others(8): Show 
a0001c0001t0017g0158
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0034g0162
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0122g0160
a0001c0001t0127g0159
a0001c0001t0138g0161
a0001c0001t0141g0165
a0007c0013t0132g0163
 11 HG00741.hp1
HG01106.hp2
HG01109.hp1
others(8): Show 
HG00741.hp1
HG01106.hp2
HG01109.hp1
HG01257.hp1
HG01258.hp2
HG01891.hp1
HG02886.hp2
HG02895.hp2
HG03225.hp1
HG04204.hp1
NA20129.hp1
 intron_variant MODIFIER c.1116+5857G>A
c.1116+5857G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 617676
chr17:617727 A
A
 G
G
 11 a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
others(8): Show 
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0016t0052g0099
 11 HG00099.hp2
HG00280.hp2
HG01099.hp2
others(8): Show 
HG00099.hp2
HG00280.hp2
HG01099.hp2
HG01168.hp2
HG01175.hp1
HG01515.hp2
HG01981.hp2
HG03491.hp1
HG03492.hp1
HG03688.hp1
NA18948.hp1
 intron_variant MODIFIER c.1116+5806T>C
c.1116+5806T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 617727
chr17:617736 G
G
 A
A
 53 a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
others(50): Show 
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0016t0052g0099
a0002c0003t0073g0068
 53 HG00099.hp2
HG00140.hp2
HG00280.hp1
others(50): Show 
HG00099.hp2
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00621.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01099.hp2
HG01106.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01361.hp1
HG01496.hp1
HG01515.hp2
HG01978.hp1
HG01981.hp2
HG02135.hp1
HG02738.hp1
HG02886.hp1
HG03491.hp1
HG03492.hp1
HG03688.hp1
HG04204.hp2
NA18906.hp2
NA18940.hp1
NA18944.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18959.hp2
NA18960.hp1
NA18962.hp2
NA18967.hp1
NA18973.hp1
NA18977.hp2
NA18979.hp1
NA19007.hp1
NA19009.hp1
NA19065.hp1
NA19070.hp1
NA19079.hp1
NA19084.hp1
NA19090.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1116+5797C>T
c.1116+5797C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 617736
chr17:617776 C
C
 T
T
 137 a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
others(134): Show 
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0097g0199
a0001c0001t0098g0147
a0001c0001t0105g0201
a0001c0001t0108g0148
a0001c0001t0118g0195
a0001c0001t0134g0154
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0001g0094
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0035g0219
a0001c0002t0038g0224
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0050g0049
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0065g0093
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0077g0095
a0001c0002t0078g0041
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0002t0086g0221
a0001c0002t0100g0223
a0001c0002t0109g0222
a0001c0002t0125g0116
a0001c0002t0143g0226
a0001c0002t0149g0202
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0080g0092
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0011t0051g0091
a0001c0014t0135g0166
a0001c0015t0126g0149
a0001c0016t0052g0099
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0017g0179
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0018g0231
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0073g0068
a0002c0003t0085g0184
a0002c0003t0089g0175
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0099g0192
a0002c0003t0104g0208
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0145g0187
a0002c0003t0146g0170
a0002c0003t0148g0174
a0002c0003t0150g0191
a0002c0010t0038g0156
a0004c0008t0035g0203
a0004c0008t0036g0207
a0004c0008t0103g0227
a0004c0008t0124g0229
a0004c0008t0133g0232
a0004c0008t0142g0228
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
 137 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(134): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00621.hp1
HG00621.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01192.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01496.hp1
HG01515.hp2
HG01884.hp1
HG01891.hp2
HG01928.hp1
HG01978.hp1
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02056.hp1
HG02074.hp2
HG02083.hp1
HG02129.hp1
HG02132.hp1
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02280.hp1
HG02293.hp1
HG02300.hp1
HG02572.hp1
HG02602.hp1
HG02622.hp1
HG02622.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02922.hp2
HG03139.hp2
HG03225.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03516.hp2
HG03688.hp1
HG03831.hp1
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04199.hp1
HG04204.hp2
NA18612.hp1
NA18747.hp1
NA18747.hp2
NA18906.hp2
NA18940.hp1
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp1
NA18955.hp1
NA18955.hp2
NA18957.hp2
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18962.hp2
NA18967.hp1
NA18973.hp1
NA18973.hp2
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18984.hp2
NA18986.hp1
NA18987.hp1
NA18990.hp2
NA19000.hp1
NA19000.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19064.hp2
NA19065.hp1
NA19066.hp1
NA19066.hp2
NA19070.hp1
NA19074.hp1
NA19079.hp1
NA19080.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1116+5757G>A
c.1116+5757G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 617776
chr17:617797 G
G
 GTGCGCCA
others(243): Show 
GTGCGCCACCACGCCCCACTAATATTTCCCGGGTAGCTGGGACTACAGGC
GTGCGCCACCACGCCCCACTAATATTTCCCGGGTAGCTGGGACTACAGGC
GTGCGCCATCAGGCCCCGCTATTATTTCCCAGGTAGCTGGGACTACAGGC
ATGCACCACCACGCCCCACTAATATTTCCCGGGTAGCTGGGACTACAGGC
ATGCGCCATCAGGCCCCGCTATTATTTCCCAGGTAGCTGGGACTACAGGC
A
 34 a0001c0002t0017g0225
a0001c0002t0050g0049
a0002c0003t0008g0180
others(31): Show 
a0001c0002t0017g0225
a0001c0002t0050g0049
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0188
a0002c0003t0017g0179
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0018g0231
a0002c0003t0036g0176
a0002c0003t0037g0168
a0002c0003t0085g0184
a0002c0003t0089g0175
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0099g0192
a0002c0003t0104g0208
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0145g0187
a0002c0003t0146g0170
a0002c0003t0148g0174
a0002c0003t0150g0191
a0004c0008t0036g0207
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
 34 HG00323.hp2
HG00423.hp1
HG00438.hp2
others(31): Show 
HG00323.hp2
HG00423.hp1
HG00438.hp2
HG00621.hp1
HG01070.hp2
HG01071.hp1
HG01099.hp1
HG01167.hp1
HG01516.hp1
HG01981.hp1
HG02074.hp2
HG02083.hp1
HG02129.hp1
HG02132.hp1
HG02280.hp1
HG02293.hp1
HG02300.hp1
HG02738.hp2
HG03491.hp2
HG03831.hp1
HG03942.hp1
HG04199.hp1
NA18612.hp1
NA18946.hp1
NA18955.hp1
NA18957.hp2
NA18979.hp2
NA18983.hp1
NA18987.hp1
NA19010.hp1
NA19066.hp2
NA19080.hp2
NA19084.hp2
NA19090.hp2
 intron_variant MODIFIER c.1116+5735_1116+573
others(254): Show 
c.1116+5735_1116+5736insTGCCTGTAGTCCCAGCTACCTGGGAA
ATAATAGCGGGGCCTGATGGCGCATGCCTGTAGTCCCAGCTACCCGGGAA
ATATTAGTGGGGCGTGGTGGTGCATGCCTGTAGTCCCAGCTACCTGGGAA
ATAATAGCGGGGCCTGATGGCGCACGCCTGTAGTCCCAGCTACCCGGGAA
ATATTAGTGGGGCGTGGTGGCGCACGCCTGTAGTCCCAGCTACCCGGGAA
ATATTAGTGGGGCGTGGTGGCGCA
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 617797
chr17:617826 C
C
 CGGGTAGC
others(243): Show 
CGGGTAGCTGGGACTACAGGCGTGCGCCACCACGCCCCACTAATATTTCC
CGGGTAGCTGGGACTACAGGCGTGCGCCATCAGGCCCCGCTATTATTTCC
CAGGTAGCTGGGACTACAGGCATGCACCACCACGCCCCACTAATATTTCC
CGGGTAGCTGGGACTACAGGCATGCGCCATCAGGCCCCGCTATTATTTCC
CAGGTAGCTGGGACTACAGGCATGCGCCACCACGCCCCACTAATATTTCC
T
 13 a0001c0002t0035g0219
a0001c0002t0038g0224
a0001c0002t0086g0221
others(10): Show 
a0001c0002t0035g0219
a0001c0002t0038g0224
a0001c0002t0086g0221
a0001c0002t0100g0223
a0001c0002t0109g0222
a0001c0002t0125g0116
a0001c0002t0143g0226
a0001c0002t0149g0202
a0004c0008t0035g0203
a0004c0008t0103g0227
a0004c0008t0124g0229
a0004c0008t0133g0232
a0004c0008t0142g0228
 13 HG00099.hp1
HG00140.hp1
HG00438.hp1
others(10): Show 
HG00099.hp1
HG00140.hp1
HG00438.hp1
HG01346.hp1
HG02145.hp1
HG03942.hp2
HG04184.hp1
NA18944.hp2
NA18973.hp2
NA18990.hp2
NA19007.hp2
NA19011.hp1
NA19066.hp1
 intron_variant MODIFIER c.1116+5706_1116+570
others(254): Show 
c.1116+5706_1116+5707insAGGAAATATTAGTGGGGCGTGGTGGC
GCATGCCTGTAGTCCCAGCTACCTGGGAAATAATAGCGGGGCCTGATGGC
GCATGCCTGTAGTCCCAGCTACCCGGGAAATATTAGTGGGGCGTGGTGGT
GCATGCCTGTAGTCCCAGCTACCTGGGAAATAATAGCGGGGCCTGATGGC
GCACGCCTGTAGTCCCAGCTACCCGGGAAATATTAGTGGGGCGTGGTGGC
GCACGCCTGTAGTCCCAGCTACCC
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 617826
chr17:617870 A
A
 G
G
 1 a0001c0006t0039g0003
a0001c0006t0039g0003
 1 HG01515.hp2
HG01515.hp2
 intron_variant MODIFIER c.1116+5663T>C
c.1116+5663T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 617870
chr17:617870 ATTTCCCG
others(43): Show 
ATTTCCCGGGTAGCTGGGACTACAGGCGTGCACCACCACGCCCCACTAAT
G
 A
A
 1 a0001c0001t0084g0046
a0001c0001t0084g0046
 1 HG03516.hp1
HG03516.hp1
 intron_variant MODIFIER c.1116+5613_1116+566
others(54): Show 
c.1116+5613_1116+5662delCATTAGTGGGGCGTGGTGGTGCACGC
CTGTAGTCCCAGCTACCCGGGAAA
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 617870
chr17:617897 G
G
 GTGCGCCA
others(143): Show 
GTGCGCCATCAGGCCCCGCTATTATTTCCCAGGTAGCTGGGACTACAGGC
ATGCACCACCACGCCCCACTAATATTTCCCGGGTAGCTGGGACTACAGGC
ATGCGCCATCAGGCCCCGCTATTATTTCCCAGGTAGCTGGGACTACAGGC
A
 6 a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0218
others(3): Show 
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0218
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0037g0115
 6 HG01928.hp1
HG02040.hp1
HG02056.hp1
others(3): Show 
HG01928.hp1
HG02040.hp1
HG02056.hp1
NA18986.hp1
NA19000.hp1
NA19074.hp1
 intron_variant MODIFIER c.1116+5635_1116+563
others(154): Show 
c.1116+5635_1116+5636insTGCCTGTAGTCCCAGCTACCTGGGAA
ATAATAGCGGGGCCTGATGGCGCATGCCTGTAGTCCCAGCTACCCGGGAA
ATATTAGTGGGGCGTGGTGGTGCATGCCTGTAGTCCCAGCTACCTGGGAA
ATAATAGCGGGGCCTGATGGCGCA
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 617897
chr17:617901 A
A
 G
G
 89 a0001c0001t0122g0160
a0001c0001t0138g0161
a0001c0002t0007g0058
others(86): Show 
a0001c0001t0122g0160
a0001c0001t0138g0161
a0001c0002t0007g0058
a0001c0002t0017g0225
a0001c0002t0035g0219
a0001c0002t0038g0224
a0001c0002t0043g0064
a0001c0002t0050g0049
a0001c0002t0075g0051
a0001c0002t0086g0221
a0001c0002t0100g0223
a0001c0002t0109g0222
a0001c0002t0125g0116
a0001c0002t0143g0226
a0001c0002t0149g0202
a0001c0006t0039g0003
a0001c0015t0126g0149
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0017g0179
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0018g0231
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0085g0184
a0002c0003t0089g0175
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0099g0192
a0002c0003t0104g0208
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0145g0187
a0002c0003t0146g0170
a0002c0003t0148g0174
a0002c0003t0150g0191
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
a0004c0008t0035g0203
a0004c0008t0036g0207
a0004c0008t0103g0227
a0004c0008t0124g0229
a0004c0008t0133g0232
a0004c0008t0142g0228
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
 89 HG00099.hp1
HG00140.hp1
HG00323.hp2
others(86): Show 
HG00099.hp1
HG00140.hp1
HG00323.hp2
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00621.hp1
HG01070.hp2
HG01071.hp1
HG01099.hp1
HG01167.hp1
HG01257.hp1
HG01257.hp2
HG01258.hp2
HG01346.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01928.hp1
HG01981.hp1
HG02040.hp1
HG02056.hp1
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02109.hp1
HG02129.hp1
HG02132.hp1
HG02145.hp1
HG02280.hp1
HG02293.hp1
HG02300.hp1
HG02723.hp1
HG02738.hp2
HG03491.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04199.hp1
NA18612.hp1
NA18612.hp2
NA18906.hp1
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18946.hp1
NA18950.hp2
NA18955.hp1
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18961.hp2
NA18973.hp2
NA18977.hp1
NA18978.hp1
NA18979.hp2
NA18983.hp1
NA18984.hp1
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18990.hp1
NA18990.hp2
NA18994.hp1
NA19000.hp1
NA19007.hp1
NA19007.hp2
NA19010.hp1
NA19011.hp1
NA19011.hp2
NA19060.hp1
NA19064.hp1
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19070.hp1
NA19074.hp1
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19084.hp2
NA19087.hp2
NA19090.hp2
NA19091.hp2
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.1116+5632T>C
c.1116+5632T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 617901
chr17:617920 G
G
 A
A
 50 a0001c0002t0017g0225
a0001c0002t0035g0219
a0001c0002t0038g0224
others(47): Show 
a0001c0002t0017g0225
a0001c0002t0035g0219
a0001c0002t0038g0224
a0001c0002t0050g0049
a0001c0002t0086g0221
a0001c0002t0100g0223
a0001c0002t0109g0222
a0001c0002t0125g0116
a0001c0002t0143g0226
a0001c0002t0149g0202
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0218
a0002c0003t0017g0179
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0018g0231
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0085g0184
a0002c0003t0089g0175
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0099g0192
a0002c0003t0104g0208
a0002c0003t0131g0193
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0145g0187
a0002c0003t0146g0170
a0002c0003t0148g0174
a0002c0003t0150g0191
a0004c0008t0036g0207
a0004c0008t0103g0227
a0004c0008t0124g0229
a0004c0008t0133g0232
a0004c0008t0142g0228
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
 50 HG00099.hp1
HG00140.hp1
HG00323.hp2
others(47): Show 
HG00099.hp1
HG00140.hp1
HG00323.hp2
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00621.hp1
HG01070.hp2
HG01071.hp1
HG01099.hp1
HG01167.hp1
HG01346.hp1
HG01516.hp1
HG01928.hp1
HG01981.hp1
HG02040.hp1
HG02056.hp1
HG02074.hp2
HG02083.hp1
HG02129.hp1
HG02132.hp1
HG02145.hp1
HG02280.hp1
HG02293.hp1
HG02300.hp1
HG02738.hp2
HG03491.hp2
HG03942.hp1
HG03942.hp2
HG04199.hp1
NA18612.hp1
NA18944.hp2
NA18946.hp1
NA18955.hp1
NA18957.hp2
NA18973.hp2
NA18979.hp2
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA18990.hp2
NA19000.hp1
NA19007.hp2
NA19010.hp1
NA19011.hp1
NA19066.hp1
NA19066.hp2
NA19074.hp1
NA19084.hp2
NA19090.hp2
 intron_variant MODIFIER c.1116+5613C>T
c.1116+5613C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 617920
chr17:617920 G
G
 GTTTCCCG
others(43): Show 
GTTTCCCGGGTAGCTGGGACTACAGGCGTGCACCACCACGCCCCGCTAAT
A
 2 a0003c0004t0003g0036
a0003c0004t0081g0035
a0003c0004t0003g0036
a0003c0004t0081g0035
 2 HG02109.hp1
NA21309.hp2
HG02109.hp1
NA21309.hp2
 intron_variant MODIFIER c.1116+5612_1116+561
others(54): Show 
c.1116+5612_1116+5613insTATTAGCGGGGCGTGGTGGTGCACGC
CTGTAGTCCCAGCTACCCGGGAAA
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 617920
chr17:617951 G
G
 A
A
 44 a0001c0002t0017g0225
a0001c0002t0035g0219
a0001c0002t0038g0224
others(41): Show 
a0001c0002t0017g0225
a0001c0002t0035g0219
a0001c0002t0038g0224
a0001c0002t0050g0049
a0001c0002t0086g0221
a0001c0002t0100g0223
a0001c0002t0109g0222
a0001c0002t0143g0226
a0001c0002t0149g0202
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0017g0179
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0018g0231
a0002c0003t0037g0168
a0002c0003t0085g0184
a0002c0003t0089g0175
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0099g0192
a0002c0003t0104g0208
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0145g0187
a0002c0003t0146g0170
a0002c0003t0148g0174
a0002c0003t0150g0191
a0004c0008t0035g0203
a0004c0008t0036g0207
a0004c0008t0103g0227
a0004c0008t0124g0229
a0004c0008t0133g0232
a0004c0008t0142g0228
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
 44 HG00099.hp1
HG00140.hp1
HG00423.hp1
others(41): Show 
HG00099.hp1
HG00140.hp1
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00621.hp1
HG01070.hp2
HG01071.hp1
HG01099.hp1
HG01167.hp1
HG01346.hp1
HG01516.hp1
HG01981.hp1
HG02074.hp2
HG02083.hp1
HG02129.hp1
HG02132.hp1
HG02145.hp1
HG02280.hp1
HG02293.hp1
HG02300.hp1
HG02738.hp2
HG03491.hp2
HG03831.hp1
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04199.hp1
NA18612.hp1
NA18944.hp2
NA18946.hp1
NA18955.hp1
NA18957.hp2
NA18973.hp2
NA18979.hp2
NA18983.hp1
NA18987.hp1
NA18990.hp2
NA19010.hp1
NA19011.hp1
NA19066.hp1
NA19066.hp2
NA19084.hp2
NA19090.hp2
 intron_variant MODIFIER c.1116+5582C>T
c.1116+5582C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 617951
chr17:617970 A
A
 G
G
 48 a0001c0002t0017g0225
a0001c0002t0035g0219
a0001c0002t0038g0224
others(45): Show 
a0001c0002t0017g0225
a0001c0002t0035g0219
a0001c0002t0038g0224
a0001c0002t0043g0064
a0001c0002t0050g0049
a0001c0002t0086g0221
a0001c0002t0100g0223
a0001c0002t0109g0222
a0001c0002t0125g0116
a0001c0002t0143g0226
a0001c0002t0149g0202
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0188
a0002c0003t0017g0179
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0018g0231
a0002c0003t0036g0176
a0002c0003t0037g0168
a0002c0003t0085g0184
a0002c0003t0089g0175
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0099g0192
a0002c0003t0104g0208
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0145g0187
a0002c0003t0146g0170
a0002c0003t0148g0174
a0002c0003t0150g0191
a0004c0008t0035g0203
a0004c0008t0036g0207
a0004c0008t0103g0227
a0004c0008t0124g0229
a0004c0008t0133g0232
a0004c0008t0142g0228
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
 48 HG00099.hp1
HG00140.hp1
HG00323.hp2
others(45): Show 
HG00099.hp1
HG00140.hp1
HG00323.hp2
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00621.hp1
HG01070.hp2
HG01071.hp1
HG01099.hp1
HG01167.hp1
HG01346.hp1
HG01516.hp1
HG01981.hp1
HG02074.hp2
HG02083.hp1
HG02129.hp1
HG02132.hp1
HG02145.hp1
HG02280.hp1
HG02293.hp1
HG02300.hp1
HG02738.hp2
HG03491.hp2
HG03831.hp1
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04199.hp1
NA18612.hp1
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18955.hp1
NA18957.hp2
NA18973.hp2
NA18979.hp2
NA18983.hp1
NA18987.hp1
NA18990.hp2
NA19007.hp2
NA19010.hp1
NA19011.hp1
NA19066.hp1
NA19066.hp2
NA19080.hp2
NA19084.hp2
NA19090.hp2
 intron_variant MODIFIER c.1116+5563T>C
c.1116+5563T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 617970
chr17:618001 G
G
 A
A
 15 a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
others(12): Show 
a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0002t0078g0041
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0011t0051g0091
 15 HG01074.hp2
HG02135.hp2
HG02602.hp1
others(12): Show 
HG01074.hp2
HG02135.hp2
HG02602.hp1
HG03516.hp2
NA18747.hp1
NA18747.hp2
NA18955.hp2
NA18960.hp2
NA18984.hp2
NA18994.hp2
NA19000.hp2
NA19010.hp2
NA19064.hp2
NA19087.hp1
NA19091.hp1
 intron_variant MODIFIER c.1116+5532C>T
c.1116+5532C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 618001
chr17:618008 C
C
 T
T
 4 a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
others(1): Show 
a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0011t0051g0091
 4 HG01074.hp2
NA18747.hp2
NA18984.hp2
others(1): Show 
HG01074.hp2
NA18747.hp2
NA18984.hp2
NA19064.hp2
 intron_variant MODIFIER c.1116+5525G>A
c.1116+5525G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 618008
chr17:618020 A
A
 ATTTCCCG
others(43): Show 
ATTTCCCGGGTAGCTGGGACTACAGGCGTGCACCACCACGCCCCACTAAT
G
 5 a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0218
others(2): Show 
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0218
a0002c0003t0027g0169
a0002c0003t0027g0181
 5 HG01928.hp1
HG02040.hp1
HG02056.hp1
others(2): Show 
HG01928.hp1
HG02040.hp1
HG02056.hp1
NA19000.hp1
NA19074.hp1
 intron_variant MODIFIER c.1116+5512_1116+551
others(54): Show 
c.1116+5512_1116+5513insCATTAGTGGGGCGTGGTGGTGCACGC
CTGTAGTCCCAGCTACCCGGGAAA
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 618020
chr17:618020 A
A
 G
G
 14 a0001c0002t0017g0225
a0001c0002t0035g0219
a0001c0002t0038g0224
others(11): Show 
a0001c0002t0017g0225
a0001c0002t0035g0219
a0001c0002t0038g0224
a0001c0002t0086g0221
a0001c0002t0100g0223
a0001c0002t0109g0222
a0001c0002t0125g0116
a0001c0002t0143g0226
a0001c0002t0149g0202
a0004c0008t0035g0203
a0004c0008t0103g0227
a0004c0008t0124g0229
a0004c0008t0133g0232
a0004c0008t0142g0228
 14 HG00099.hp1
HG00140.hp1
HG00438.hp1
others(11): Show 
HG00099.hp1
HG00140.hp1
HG00438.hp1
HG01346.hp1
HG01516.hp1
HG02145.hp1
HG03942.hp2
HG04184.hp1
NA18944.hp2
NA18973.hp2
NA18990.hp2
NA19007.hp2
NA19011.hp1
NA19066.hp1
 intron_variant MODIFIER c.1116+5513T>C
c.1116+5513T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 618020
chr17:618048 T
T
 C
C
 1 a0003c0004t0025g0038
a0003c0004t0025g0038
 1 NA19068.hp1
NA19068.hp1
 intron_variant MODIFIER c.1116+5485A>G
c.1116+5485A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 618048
chr17:618051 G
G
 A
A
 7 a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
others(4): Show 
a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0002t0078g0041
a0001c0011t0051g0091
a0002c0003t0037g0115
a0003c0004t0025g0038
 7 HG01074.hp2
HG03516.hp2
NA18747.hp2
others(4): Show 
HG01074.hp2
HG03516.hp2
NA18747.hp2
NA18984.hp2
NA18986.hp1
NA19064.hp2
NA19068.hp1
 intron_variant MODIFIER c.1116+5482C>T
c.1116+5482C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 618051
chr17:618070 A
A
 G
G
 13 a0001c0002t0014g0077
a0001c0006t0001g0113
a0001c0006t0021g0100
others(10): Show 
a0001c0002t0014g0077
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0016t0052g0099
a0002c0003t0037g0115
 13 HG00099.hp2
HG00280.hp2
HG01099.hp2
others(10): Show 
HG00099.hp2
HG00280.hp2
HG01099.hp2
HG01168.hp2
HG01175.hp1
HG01515.hp2
HG01981.hp2
HG03491.hp1
HG03492.hp1
HG03688.hp1
NA18948.hp1
NA18967.hp1
NA18986.hp1
 intron_variant MODIFIER c.1116+5463T>C
c.1116+5463T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 618070
chr17:618120 A
A
 ATTTCCCG
others(43): Show 
ATTTCCCGGGTAGCTGGGACTACAGGCGTGCGCCACCACGCCCCACTAAT
G
 5 a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0218
others(2): Show 
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0218
a0002c0003t0027g0169
a0002c0003t0027g0181
 5 HG01928.hp1
HG02040.hp1
HG02056.hp1
others(2): Show 
HG01928.hp1
HG02040.hp1
HG02056.hp1
NA19000.hp1
NA19074.hp1
 intron_variant MODIFIER c.1116+5363_1116+541
others(54): Show 
c.1116+5363_1116+5412dupCATTAGTGGGGCGTGGTGGCGCACGC
CTGTAGTCCCAGCTACCCGGGAAA
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 618120
chr17:618120 A
A
 G
G
 53 a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
others(50): Show 
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0016t0052g0099
a0002c0003t0073g0068
 53 HG00099.hp2
HG00140.hp2
HG00280.hp1
others(50): Show 
HG00099.hp2
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00621.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01099.hp2
HG01106.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01361.hp1
HG01496.hp1
HG01515.hp2
HG01978.hp1
HG01981.hp2
HG02135.hp1
HG02738.hp1
HG02886.hp1
HG03491.hp1
HG03492.hp1
HG03688.hp1
HG04204.hp2
NA18906.hp2
NA18940.hp1
NA18944.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18959.hp2
NA18960.hp1
NA18962.hp2
NA18967.hp1
NA18973.hp1
NA18977.hp2
NA18979.hp1
NA19007.hp1
NA19009.hp1
NA19065.hp1
NA19070.hp1
NA19079.hp1
NA19084.hp1
NA19090.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1116+5413T>C
c.1116+5413T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 618120
chr17:618134 T
T
 TGGGACTA
others(94): Show 
TGGGACTACAGGCGTGCGCCACCACGCCCCACTATATTTCCCGGGTAGCT
GGGACTACAGGCGTGCGCCACCACGCCCCACTAATATTTCCCGGGTAGGC
TG
 1 a0002c0003t0037g0115
a0002c0003t0037g0115
 1 NA18986.hp1
NA18986.hp1
 intron_variant MODIFIER c.1116+5398_1116+539
others(105): Show 
c.1116+5398_1116+5399insCAGCCTACCCGGGAAATATTAGTGGG
GCGTGGTGGCGCACGCCTGTAGTCCCAGCTACCCGGGAAATATAGTGGGG
CGTGGTGGCGCACGCCTGTAGTCCC
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 618134
chr17:618139 C
C
 T
T
 5 a0001c0002t0001g0056
a0001c0002t0001g0082
a0001c0002t0003g0053
others(2): Show 
a0001c0002t0001g0056
a0001c0002t0001g0082
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0014g0055
 5 HG01071.hp2
HG01074.hp1
HG01167.hp2
others(2): Show 
HG01071.hp2
HG01074.hp1
HG01167.hp2
HG02886.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1116+5394G>A
c.1116+5394G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 618139
chr17:618151 GCCACCAC
others(242): Show 
GCCACCACGCCCCACTAATGTTTCCCGGGTAGCTGGGACTACAGGCGTGC
GCCACCACGCCCCACTAATATTTCCCGGGTAGCTGGGACTACAGGCGTGC
ACCACCACGCCTGCTAATATTTCCCGGGTAGCTGGGACTACAGGCGTGCG
CCACCACGCCCCACTAATATTTCCTGGGTAGCTGGGACTACAGGGGTGCA
CCACCACGCCCCACTAATATTTCCCGGGTAGCTGGGACTACAGGCGTGCA
 G
G
 11 a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
others(8): Show 
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0016t0052g0099
 11 HG00099.hp2
HG00280.hp2
HG01099.hp2
others(8): Show 
HG00099.hp2
HG00280.hp2
HG01099.hp2
HG01168.hp2
HG01175.hp1
HG01515.hp2
HG01981.hp2
HG03491.hp1
HG03492.hp1
HG03688.hp1
NA18948.hp1
 intron_variant MODIFIER c.1116+5133_1116+538
others(4): Show 
c.1116+5133_1116+5381del
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 618151
chr17:618170 G
G
 A
A
 1 a0001c0002t0078g0041
a0001c0002t0078g0041
 1 HG03516.hp2
HG03516.hp2
 intron_variant MODIFIER c.1116+5363C>T
c.1116+5363C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 618170
chr17:618174 C
C
 T
T
 10 a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
others(7): Show 
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
 10 HG02135.hp2
HG02602.hp1
NA18747.hp1
others(7): Show 
HG02135.hp2
HG02602.hp1
NA18747.hp1
NA18955.hp2
NA18960.hp2
NA18994.hp2
NA19000.hp2
NA19010.hp2
NA19087.hp1
NA19091.hp1
 intron_variant MODIFIER c.1116+5359G>A
c.1116+5359G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 618174
chr17:618201 GCCACCAC
others(192): Show 
GCCACCACGCCCCACTAATATTTCCCGGGTAGCTGGGACTACAGGCGTGC
ACCACCACGCCTGCTAATATTTCCCGGGTAGCTGGGACTACAGGCGTGCG
CCACCACGCCCCACTAATATTTCCTGGGTAGCTGGGACTACAGGGGTGCA
CCACCACGCCCCACTAATATTTCCCGGGTAGCTGGGACTACAGGCGTGCA
 G
G
 42 a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
others(39): Show 
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0002c0003t0073g0068
 42 HG00140.hp2
HG00280.hp1
HG00323.hp1
others(39): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp1
HG00621.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01106.hp1
HG01167.hp2
HG01168.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01361.hp1
HG01496.hp1
HG01978.hp1
HG02135.hp1
HG02738.hp1
HG02886.hp1
HG04204.hp2
NA18906.hp2
NA18940.hp1
NA18944.hp1
NA18946.hp2
NA18948.hp2
NA18959.hp2
NA18960.hp1
NA18962.hp2
NA18967.hp1
NA18973.hp1
NA18977.hp2
NA18979.hp1
NA19007.hp1
NA19009.hp1
NA19065.hp1
NA19070.hp1
NA19079.hp1
NA19084.hp1
NA19090.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1116+5133_1116+533
others(4): Show 
c.1116+5133_1116+5331del
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 618201
chr17:618220 A
A
 G
G
 1 a0001c0002t0078g0041
a0001c0002t0078g0041
 1 HG03516.hp2
HG03516.hp2
 intron_variant MODIFIER c.1116+5313T>C
c.1116+5313T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 618220
chr17:618249 G
G
 GC
GC
 13 a0001c0001t0017g0158
a0001c0001t0032g0204
a0001c0001t0033g0205
others(10): Show 
a0001c0001t0017g0158
a0001c0001t0032g0204
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0034g0162
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0122g0160
a0001c0001t0127g0159
a0001c0001t0138g0161
a0001c0001t0141g0165
a0002c0010t0038g0156
a0007c0013t0132g0163
 13 HG00741.hp1
HG01106.hp2
HG01109.hp1
others(10): Show 
HG00741.hp1
HG01106.hp2
HG01109.hp1
HG01257.hp1
HG01258.hp2
HG01891.hp1
HG02886.hp2
HG02895.hp2
HG02922.hp1
HG03225.hp1
HG04204.hp1
NA20129.hp1
NA21309.hp1
 intron_variant MODIFIER c.1116+5283dupG
c.1116+5283dupG
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 618249
chr17:618251 A
A
 G
G
 1 a0001c0002t0078g0041
a0001c0002t0078g0041
 1 HG03516.hp2
HG03516.hp2
 intron_variant MODIFIER c.1116+5282T>C
c.1116+5282T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 618251
chr17:618259 G
G
 GC
GC
 11 a0001c0002t0078g0041
a0001c0005t0010g0008
a0001c0005t0019g0006
others(8): Show 
a0001c0002t0078g0041
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
 11 HG02135.hp2
HG02602.hp1
HG03516.hp2
others(8): Show 
HG02135.hp2
HG02602.hp1
HG03516.hp2
NA18747.hp1
NA18955.hp2
NA18960.hp2
NA18994.hp2
NA19000.hp2
NA19010.hp2
NA19087.hp1
NA19091.hp1
 intron_variant MODIFIER c.1116+5273dupG
c.1116+5273dupG
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 618259
chr17:618262 T
T
 C
C
 11 a0001c0002t0078g0041
a0001c0005t0010g0008
a0001c0005t0019g0006
others(8): Show 
a0001c0002t0078g0041
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
 11 HG02135.hp2
HG02602.hp1
HG03516.hp2
others(8): Show 
HG02135.hp2
HG02602.hp1
HG03516.hp2
NA18747.hp1
NA18955.hp2
NA18960.hp2
NA18994.hp2
NA19000.hp2
NA19010.hp2
NA19087.hp1
NA19091.hp1
 intron_variant MODIFIER c.1116+5271A>G
c.1116+5271A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 618262
chr17:618263 G
G
 A
A
 1 a0001c0002t0078g0041
a0001c0002t0078g0041
 1 HG03516.hp2
HG03516.hp2
 intron_variant MODIFIER c.1116+5270C>T
c.1116+5270C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 618263
chr17:618269 A
A
 G
G
 1 a0001c0002t0078g0041
a0001c0002t0078g0041
 1 HG03516.hp2
HG03516.hp2
 intron_variant MODIFIER c.1116+5264T>C
c.1116+5264T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 618269
chr17:618295 CGTGCGCC
others(43): Show 
CGTGCGCCACCACGCCCCACTAATATTTCCTGGGTAGCTGGGACTACAGG
G
 C
C
 1 a0001c0001t0107g0212
a0001c0001t0107g0212
 1 HG01255.hp2
HG01255.hp2
 intron_variant MODIFIER c.1116+5188_1116+523
others(54): Show 
c.1116+5188_1116+5237delCCCTGTAGTCCCAGCTACCCAGGAAA
TATTAGTGGGGCGTGGTGGCGCAC
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 618295
chr17:618305 C
C
 A
A
 1 a0003c0004t0056g0020
a0003c0004t0056g0020
 1 NA19080.hp1
NA19080.hp1
 intron_variant MODIFIER c.1116+5228G>T
c.1116+5228G>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 618305
chr17:618308 G
G
 A
A
 1 a0001c0002t0078g0041
a0001c0002t0078g0041
 1 HG03516.hp2
HG03516.hp2
 intron_variant MODIFIER c.1116+5225C>T
c.1116+5225C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 618308
chr17:618311 C
C
 T
T
 1 a0006c0012t0129g0140
a0006c0012t0129g0140
 1 NA18978.hp2
NA18978.hp2
 intron_variant MODIFIER c.1116+5222G>A
c.1116+5222G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 618311
chr17:618313 A
A
 G
G
 1 a0001c0002t0078g0041
a0001c0002t0078g0041
 1 HG03516.hp2
HG03516.hp2
 intron_variant MODIFIER c.1116+5220T>C
c.1116+5220T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 618313
chr17:618325 T
T
 C
C
 5 a0001c0001t0002g0121
a0001c0002t0001g0094
a0001c0002t0065g0093
others(2): Show 
a0001c0001t0002g0121
a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0002t0078g0041
 5 HG03516.hp2
NA18747.hp2
NA18983.hp2
others(2): Show 
HG03516.hp2
NA18747.hp2
NA18983.hp2
NA18984.hp2
NA19064.hp2
 intron_variant MODIFIER c.1116+5208A>G
c.1116+5208A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 618325
chr17:618345 G
G
 C
C
 1 a0001c0002t0078g0041
a0001c0002t0078g0041
 1 HG03516.hp2
HG03516.hp2
 intron_variant MODIFIER c.1116+5188C>G
c.1116+5188C>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 618345
chr17:618346 G
G
 A
A
 4 a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
others(1): Show 
a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0011t0051g0091
 4 HG01074.hp2
NA18747.hp2
NA18984.hp2
others(1): Show 
HG01074.hp2
NA18747.hp2
NA18984.hp2
NA19064.hp2
 intron_variant MODIFIER c.1116+5187C>T
c.1116+5187C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 618346
chr17:618347 T
T
 C
C
 1 a0001c0002t0078g0041
a0001c0002t0078g0041
 1 HG03516.hp2
HG03516.hp2
 intron_variant MODIFIER c.1116+5186A>G
c.1116+5186A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 618347
chr17:618350 A
A
 G
G
 5 a0001c0001t0032g0114
a0001c0001t0095g0145
a0001c0001t0096g0146
others(2): Show 
a0001c0001t0032g0114
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0098g0147
a0001c0002t0078g0041
 5 HG02818.hp2
HG02895.hp1
HG03225.hp2
others(2): Show 
HG02818.hp2
HG02895.hp1
HG03225.hp2
HG03516.hp2
NA20300.hp2
 intron_variant MODIFIER c.1116+5183T>C
c.1116+5183T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 618350
chr17:618363 A
A
 G
G
 1 a0001c0002t0078g0041
a0001c0002t0078g0041
 1 HG03516.hp2
HG03516.hp2
 intron_variant MODIFIER c.1116+5170T>C
c.1116+5170T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 618363
chr17:618396 G
G
 A
A
 1 a0001c0002t0078g0041
a0001c0002t0078g0041
 1 HG03516.hp2
HG03516.hp2
 intron_variant MODIFIER c.1116+5137C>T
c.1116+5137C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 618396
chr17:618400 A
A
 G
G
 1 a0001c0001t0107g0212
a0001c0001t0107g0212
 1 HG01255.hp2
HG01255.hp2
 intron_variant MODIFIER c.1116+5133T>C
c.1116+5133T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 618400
chr17:618400 ACCACCAC
others(43): Show 
ACCACCACGCCCCACTAATATTTCCCGGGTAGCTGGGACGACAGGCGTGC
G
 A
A
 1 a0001c0001t0118g0195
a0001c0001t0118g0195
 1 HG01346.hp2
HG01346.hp2
 intron_variant MODIFIER c.1116+5083_1116+513
others(54): Show 
c.1116+5083_1116+5132delCGCACGCCTGTCGTCCCAGCTACCCG
GGAAATATTAGTGGGGCGTGGTGG
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 618400
chr17:618405 C
C
 CACGCCCC
others(43): Show 
CACGCCCCACTAATATTTCCCGGGTAGCTGGGACGACAGGCGTGCGCCAC
T
 48 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(45): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0032g0114
a0001c0001t0034g0126
a0001c0001t0069g0012
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0098g0147
a0001c0001t0106g0117
a0001c0001t0108g0148
a0001c0001t0110g0127
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0123g0123
a0001c0001t0128g0132
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0006c0012t0129g0140
 48 HG00423.hp2
HG00741.hp2
HG01081.hp2
others(45): Show 
HG00423.hp2
HG00741.hp2
HG01081.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01256.hp2
HG01361.hp2
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp2
HG01928.hp2
HG01978.hp2
HG02040.hp2
HG02056.hp2
HG02083.hp2
HG02109.hp2
HG02129.hp2
HG02132.hp2
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02602.hp2
HG02818.hp2
HG02895.hp1
HG03225.hp2
HG03492.hp2
HG03688.hp2
HG04184.hp2
HG04199.hp2
NA18940.hp2
NA18945.hp2
NA18950.hp1
NA18961.hp1
NA18967.hp2
NA18978.hp2
NA18983.hp2
NA18987.hp2
NA19009.hp2
NA19060.hp2
NA19065.hp2
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19079.hp2
NA19081.hp2
NA20300.hp2
 intron_variant MODIFIER c.1116+5078_1116+512
others(54): Show 
c.1116+5078_1116+5127dupAGTGGCGCACGCCTGTCGTCCCAGCT
ACCCGGGAAATATTAGTGGGGCGT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 618405
chr17:618413 A
A
 G
G
 1 a0001c0002t0078g0041
a0001c0002t0078g0041
 1 HG03516.hp2
HG03516.hp2
 intron_variant MODIFIER c.1116+5120T>C
c.1116+5120T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 618413
chr17:618425 C
C
 T
T
 1 a0001c0001t0107g0212
a0001c0001t0107g0212
 1 HG01255.hp2
HG01255.hp2
 intron_variant MODIFIER c.1116+5108G>A
c.1116+5108G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 618425
chr17:618432 C
C
 T
T
 53 a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
others(50): Show 
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0016t0052g0099
a0002c0003t0073g0068
 53 HG00099.hp2
HG00140.hp2
HG00280.hp1
others(50): Show 
HG00099.hp2
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00621.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01099.hp2
HG01106.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01361.hp1
HG01496.hp1
HG01515.hp2
HG01978.hp1
HG01981.hp2
HG02135.hp1
HG02738.hp1
HG02886.hp1
HG03491.hp1
HG03492.hp1
HG03688.hp1
HG04204.hp2
NA18906.hp2
NA18940.hp1
NA18944.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18959.hp2
NA18960.hp1
NA18962.hp2
NA18967.hp1
NA18973.hp1
NA18977.hp2
NA18979.hp1
NA19007.hp1
NA19009.hp1
NA19065.hp1
NA19070.hp1
NA19079.hp1
NA19084.hp1
NA19090.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1116+5101G>A
c.1116+5101G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 618432
chr17:618439 G
G
 T
T
 2 a0001c0001t0107g0212
a0001c0002t0078g0041
a0001c0001t0107g0212
a0001c0002t0078g0041
 2 HG01255.hp2
HG03516.hp2
HG01255.hp2
HG03516.hp2
 intron_variant MODIFIER c.1116+5094C>A
c.1116+5094C>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 618439
chr17:618445 C
C
 T
T
 10 a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
others(7): Show 
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
 10 HG02135.hp2
HG02602.hp1
NA18747.hp1
others(7): Show 
HG02135.hp2
HG02602.hp1
NA18747.hp1
NA18955.hp2
NA18960.hp2
NA18994.hp2
NA19000.hp2
NA19010.hp2
NA19087.hp1
NA19091.hp1
 intron_variant MODIFIER c.1116+5088G>A
c.1116+5088G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 618445
chr17:618446 G
G
 A
A
 2 a0001c0001t0107g0212
a0001c0002t0078g0041
a0001c0001t0107g0212
a0001c0002t0078g0041
 2 HG01255.hp2
HG03516.hp2
HG01255.hp2
HG03516.hp2
 intron_variant MODIFIER c.1116+5087C>T
c.1116+5087C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 618446
chr17:618450 G
G
 A
A
 1 a0001c0002t0078g0041
a0001c0002t0078g0041
 1 HG03516.hp2
HG03516.hp2
 intron_variant MODIFIER c.1116+5083C>T
c.1116+5083C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 618450
chr17:618455 T
T
 C
C
 2 a0001c0001t0107g0212
a0001c0002t0078g0041
a0001c0001t0107g0212
a0001c0002t0078g0041
 2 HG01255.hp2
HG03516.hp2
HG01255.hp2
HG03516.hp2
 intron_variant MODIFIER c.1116+5078A>G
c.1116+5078A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 618455
chr17:618458 G
G
 A
A
 1 a0001c0001t0107g0212
a0001c0001t0107g0212
 1 HG01255.hp2
HG01255.hp2
 intron_variant MODIFIER c.1116+5075C>T
c.1116+5075C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 618458
chr17:618459 C
C
 T
T
 1 a0001c0014t0135g0166
a0001c0014t0135g0166
 1 HG02572.hp1
HG02572.hp1
 intron_variant MODIFIER c.1116+5074G>A
c.1116+5074G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 618459
chr17:618462 CACTAATA
others(524): Show 
CACTAATATTTCCCGGGTAGCTGGGACTACAGGCATGCGCCACCACACCC
CACTAATATTTCCTGGGTAGCTGGGACTACAGGCATGCGCCATCAGGCCC
CGCTATTATTTCCCAGGTAGCTGGGACTACAGGCATGCACCACCATGCCC
AGCTAATATTTCCCGGGTAGCTGGGACTACAGGTGCCCACGACACCTGCT
AATATTTCTTGGGTAGCTGGGACTACAGGCATGCACCACCATGCCTGTTA
ATATTTCCTGGGTAGCTGGGACTACAGGCGTGCACCACCATGCCCCGCTA
ATATTTCCCGGGTAACTGTGACTACAGGCGCCCACCAGGCCTGCTAATAT
TTCCTGGGTAGCAGGGACTACACGTGTGCACCACCACACCTGCTAATATT
TCCCGGGTAGCTGGGACTACAGGCGCCCACCACGCCTGCTAATATTTTCT
GGGTAGCTGGGACTACAGGCGCCCACCACGCCTGCTAATATTTCCTGGGT
AGCTGGGACTACACGTGTGCACCACCACGCCT
 C
C
 1 a0001c0002t0078g0041
a0001c0002t0078g0041
 1 HG03516.hp2
HG03516.hp2
 intron_variant MODIFIER c.1116+4540_1116+507
others(4): Show 
c.1116+4540_1116+5070del
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 618462
chr17:618475 C
C
 T
T
 1 a0001c0001t0107g0212
a0001c0001t0107g0212
 1 HG01255.hp2
HG01255.hp2
 intron_variant MODIFIER c.1116+5058G>A
c.1116+5058G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 618475
chr17:618496 A
A
 G
G
 4 a0001c0001t0032g0114
a0001c0001t0095g0145
a0001c0001t0096g0146
others(1): Show 
a0001c0001t0032g0114
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0098g0147
 4 HG02818.hp2
HG02895.hp1
HG03225.hp2
others(1): Show 
HG02818.hp2
HG02895.hp1
HG03225.hp2
NA20300.hp2
 intron_variant MODIFIER c.1116+5037T>C
c.1116+5037T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 618496
chr17:618558 G
G
 T
T
 1 a0001c0002t0050g0049
a0001c0002t0050g0049
 1 HG02280.hp1
HG02280.hp1
 intron_variant MODIFIER c.1116+4975C>A
c.1116+4975C>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 618558
chr17:618672 G
G
 T
T
 10 a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
others(7): Show 
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
 10 HG02135.hp2
HG02602.hp1
NA18747.hp1
others(7): Show 
HG02135.hp2
HG02602.hp1
NA18747.hp1
NA18955.hp2
NA18960.hp2
NA18994.hp2
NA19000.hp2
NA19010.hp2
NA19087.hp1
NA19091.hp1
 intron_variant MODIFIER c.1116+4861C>A
c.1116+4861C>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 618672
chr17:618695 C
C
 T
T
 2 a0001c0001t0087g0198
a0001c0001t0105g0201
a0001c0001t0087g0198
a0001c0001t0105g0201
 2 HG01109.hp2
HG02818.hp1
HG01109.hp2
HG02818.hp1
 intron_variant MODIFIER c.1116+4838G>A
c.1116+4838G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 618695
chr17:618746 C
C
 A
A
 14 a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
others(11): Show 
a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0011t0051g0091
 14 HG01074.hp2
HG02135.hp2
HG02602.hp1
others(11): Show 
HG01074.hp2
HG02135.hp2
HG02602.hp1
NA18747.hp1
NA18747.hp2
NA18955.hp2
NA18960.hp2
NA18984.hp2
NA18994.hp2
NA19000.hp2
NA19010.hp2
NA19064.hp2
NA19087.hp1
NA19091.hp1
 intron_variant MODIFIER c.1116+4787G>T
c.1116+4787G>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 618746
chr17:618758 G
G
 C
C
 1 a0002c0003t0037g0115
a0002c0003t0037g0115
 1 NA18986.hp1
NA18986.hp1
 intron_variant MODIFIER c.1116+4775C>G
c.1116+4775C>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 618758
chr17:618759 C
C
 G
G
 1 a0002c0003t0037g0115
a0002c0003t0037g0115
 1 NA18986.hp1
NA18986.hp1
 intron_variant MODIFIER c.1116+4774G>C
c.1116+4774G>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 618759
chr17:618825 G
G
 A
A
 11 a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
others(8): Show 
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0016t0052g0099
 11 HG00099.hp2
HG00280.hp2
HG01099.hp2
others(8): Show 
HG00099.hp2
HG00280.hp2
HG01099.hp2
HG01168.hp2
HG01175.hp1
HG01515.hp2
HG01981.hp2
HG03491.hp1
HG03492.hp1
HG03688.hp1
NA18948.hp1
 intron_variant MODIFIER c.1116+4708C>T
c.1116+4708C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 618825
chr17:618891 C
C
 A
A
 1 a0001c0002t0035g0219
a0001c0002t0035g0219
 1 HG00438.hp1
HG00438.hp1
 intron_variant MODIFIER c.1116+4642G>T
c.1116+4642G>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 618891
chr17:618957 T
T
 TGGGTAGC
others(42): Show 
TGGGTAGCTGGACTACACGTGTGCACCACCACGCCTGCTAATATTTCTCC
 1 a0002c0003t0037g0115
a0002c0003t0037g0115
 1 NA18986.hp1
NA18986.hp1
 intron_variant MODIFIER c.1116+4575_1116+457
others(53): Show 
c.1116+4575_1116+4576insGGAGAAATATTAGCAGGCGTGGTGGT
GCACACGTGTAGTCCAGCTACCC
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 618957
chr17:618957 T
T
 TGGGTAGC
others(42): Show 
TGGGTAGCTGGGACTACACGTGTGCACCACCACGCCTGCTAATATTTCCC
 52 a0001c0002t0017g0225
a0001c0002t0035g0219
a0001c0002t0038g0224
others(49): Show 
a0001c0002t0017g0225
a0001c0002t0035g0219
a0001c0002t0038g0224
a0001c0002t0050g0049
a0001c0002t0086g0221
a0001c0002t0100g0223
a0001c0002t0109g0222
a0001c0002t0125g0116
a0001c0002t0143g0226
a0001c0002t0149g0202
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0017g0179
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0018g0231
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0036g0176
a0002c0003t0037g0168
a0002c0003t0085g0184
a0002c0003t0089g0175
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0099g0192
a0002c0003t0104g0208
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0145g0187
a0002c0003t0146g0170
a0002c0003t0148g0174
a0002c0003t0150g0191
a0004c0008t0035g0203
a0004c0008t0036g0207
a0004c0008t0103g0227
a0004c0008t0124g0229
a0004c0008t0133g0232
a0004c0008t0142g0228
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
 52 HG00099.hp1
HG00140.hp1
HG00323.hp2
others(49): Show 
HG00099.hp1
HG00140.hp1
HG00323.hp2
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00621.hp1
HG01070.hp2
HG01071.hp1
HG01099.hp1
HG01167.hp1
HG01346.hp1
HG01516.hp1
HG01928.hp1
HG01981.hp1
HG02040.hp1
HG02056.hp1
HG02074.hp2
HG02083.hp1
HG02129.hp1
HG02132.hp1
HG02145.hp1
HG02280.hp1
HG02293.hp1
HG02300.hp1
HG02738.hp2
HG03491.hp2
HG03831.hp1
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04199.hp1
NA18612.hp1
NA18944.hp2
NA18946.hp1
NA18955.hp1
NA18957.hp2
NA18973.hp2
NA18979.hp2
NA18983.hp1
NA18987.hp1
NA18990.hp2
NA19000.hp1
NA19007.hp2
NA19010.hp1
NA19011.hp1
NA19066.hp1
NA19066.hp2
NA19074.hp1
NA19080.hp2
NA19084.hp2
NA19090.hp2
 intron_variant MODIFIER c.1116+4527_1116+457
others(53): Show 
c.1116+4527_1116+4575dupGGGAAATATTAGCAGGCGTGGTGGTG
CACACGTGTAGTCCCAGCTACCC
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 618957
chr17:618993 T
T
 TGCTAATA
others(184): Show 
TGCTAATATTTCCCAGGTAGCTGGGACTACAGGTGCCCACGACGCCTGCT
AATATTTCCCGGGTAGCTGGGACTACAGGTGCCCACGACGCCTGCTAATA
TTTCCTGGGTAGCTAGGACTACACGTGTGCACCACCACACCTGCTAATAT
TTTCCGGGTAGCTGGGACTACAGGCATGCACCACCACGCCCC
 4 a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
others(1): Show 
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0094g0129
 4 HG00423.hp2
NA18950.hp1
NA18961.hp1
others(1): Show 
HG00423.hp2
NA18950.hp1
NA18961.hp1
NA19060.hp2
 intron_variant MODIFIER c.1116+4539_1116+454
others(195): Show 
c.1116+4539_1116+4540insGGGGCGTGGTGGTGCATGCCTGTAGT
CCCAGCTACCCGGAAAATATTAGCAGGTGTGGTGGTGCACACGTGTAGTC
CTAGCTACCCAGGAAATATTAGCAGGCGTCGTGGGCACCTGTAGTCCCAG
CTACCCGGGAAATATTAGCAGGCGTCGTGGGCACCTGTAGTCCCAGCTAC
CTGGGAAATATTAGC
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 618993
chr17:619029 A
A
 G
G
 5 a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
others(2): Show 
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0094g0129
a0001c0002t0078g0041
 5 HG00423.hp2
HG03516.hp2
NA18950.hp1
others(2): Show 
HG00423.hp2
HG03516.hp2
NA18950.hp1
NA18961.hp1
NA19060.hp2
 intron_variant MODIFIER c.1116+4504T>C
c.1116+4504T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 619029
chr17:619038 C
C
 T
T
 5 a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
others(2): Show 
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0094g0129
a0001c0002t0078g0041
 5 HG00423.hp2
HG03516.hp2
NA18950.hp1
others(2): Show 
HG00423.hp2
HG03516.hp2
NA18950.hp1
NA18961.hp1
NA19060.hp2
 intron_variant MODIFIER c.1116+4495G>A
c.1116+4495G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 619038
chr17:619089 G
G
 A
A
 5 a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
others(2): Show 
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0094g0129
a0001c0002t0078g0041
 5 HG00423.hp2
HG03516.hp2
NA18950.hp1
others(2): Show 
HG00423.hp2
HG03516.hp2
NA18950.hp1
NA18961.hp1
NA19060.hp2
 intron_variant MODIFIER c.1116+4444C>T
c.1116+4444C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 619089
chr17:619093 A
A
 C
C
 5 a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
others(2): Show 
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0094g0129
a0001c0002t0078g0041
 5 HG00423.hp2
HG03516.hp2
NA18950.hp1
others(2): Show 
HG00423.hp2
HG03516.hp2
NA18950.hp1
NA18961.hp1
NA19060.hp2
 intron_variant MODIFIER c.1116+4440T>G
c.1116+4440T>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 619093
chr17:619094 G
G
 A
A
 5 a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
others(2): Show 
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0094g0129
a0001c0002t0078g0041
 5 HG00423.hp2
HG03516.hp2
NA18950.hp1
others(2): Show 
HG00423.hp2
HG03516.hp2
NA18950.hp1
NA18961.hp1
NA19060.hp2
 intron_variant MODIFIER c.1116+4439C>T
c.1116+4439C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 619094
chr17:619095 C
C
 G
G
 4 a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
others(1): Show 
a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0011t0051g0091
 4 HG01074.hp2
NA18747.hp2
NA18984.hp2
others(1): Show 
HG01074.hp2
NA18747.hp2
NA18984.hp2
NA19064.hp2
 intron_variant MODIFIER c.1116+4438G>C
c.1116+4438G>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 619095
chr17:619104 C
C
 T
T
 5 a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
others(2): Show 
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0094g0129
a0001c0002t0078g0041
 5 HG00423.hp2
HG03516.hp2
NA18950.hp1
others(2): Show 
HG00423.hp2
HG03516.hp2
NA18950.hp1
NA18961.hp1
NA19060.hp2
 intron_variant MODIFIER c.1116+4429G>A
c.1116+4429G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 619104
chr17:619126 T
T
 C
C
 5 a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
others(2): Show 
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0094g0129
a0001c0002t0078g0041
 5 HG00423.hp2
HG03516.hp2
NA18950.hp1
others(2): Show 
HG00423.hp2
HG03516.hp2
NA18950.hp1
NA18961.hp1
NA19060.hp2
 intron_variant MODIFIER c.1116+4407A>G
c.1116+4407A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 619126
chr17:619142 TGCTAATA
others(234): Show 
TGCTAATATTTCCCAGGTAGCTGGGACTACAGGTGCCCACGACGCCTGCT
AATATTTCCCGGGTAGCTGGGACTACAGGTGCCCACGACGCCTGCTAATA
TTTCCTGGGTAGCTAGGACTACACGTGTGCACCACCACACCTGCTAATAT
TTTCCGGGTAGCTGGGACTACAGGCGCGCACCACCACGCCCCGCTAATAT
TTCCCGGGTAGCTGGGACTACAGGCGCGCACCACCATGCCCC
 T
T
 1 a0001c0002t0078g0041
a0001c0002t0078g0041
 1 HG03516.hp2
HG03516.hp2
 intron_variant MODIFIER c.1116+4150_1116+439
others(4): Show 
c.1116+4150_1116+4390del
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 619142
chr17:619146 A
A
 T
T
 4 a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
others(1): Show 
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0094g0129
 4 HG00423.hp2
NA18950.hp1
NA18961.hp1
others(1): Show 
HG00423.hp2
NA18950.hp1
NA18961.hp1
NA19060.hp2
 intron_variant MODIFIER c.1116+4387T>A
c.1116+4387T>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 619146
chr17:619156 A
A
 G
G
 5 a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
others(2): Show 
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0094g0129
a0001c0001t0107g0212
 5 HG00423.hp2
HG01255.hp2
NA18950.hp1
others(2): Show 
HG00423.hp2
HG01255.hp2
NA18950.hp1
NA18961.hp1
NA19060.hp2
 intron_variant MODIFIER c.1116+4377T>C
c.1116+4377T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 619156
chr17:619158 G
G
 A
A
 4 a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
others(1): Show 
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0094g0129
 4 HG00423.hp2
NA18950.hp1
NA18961.hp1
others(1): Show 
HG00423.hp2
NA18950.hp1
NA18961.hp1
NA19060.hp2
 intron_variant MODIFIER c.1116+4375C>T
c.1116+4375C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 619158
chr17:619173 G
G
 GGC
GGC
 4 a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
others(1): Show 
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0094g0129
 4 HG00423.hp2
NA18950.hp1
NA18961.hp1
others(1): Show 
HG00423.hp2
NA18950.hp1
NA18961.hp1
NA19060.hp2
 intron_variant MODIFIER c.1116+4359_1116+436
others(6): Show 
c.1116+4359_1116+4360insGC
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 619173
chr17:619177 C
C
 CACCACCA
others(144): Show 
CACCACCACACCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCGTG
TACCACCACACCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCGTG
TACCACCACACCCCACTAATATTTCCCGGGTAGCTGGGACTACAGGCACG
CA
 4 a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
others(1): Show 
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0094g0129
 4 HG00423.hp2
NA18950.hp1
NA18961.hp1
others(1): Show 
HG00423.hp2
NA18950.hp1
NA18961.hp1
NA19060.hp2
 intron_variant MODIFIER c.1116+4355_1116+435
others(155): Show 
c.1116+4355_1116+4356insTGCGTGCCTGTAGTCCCAGCTACCCG
GGAAATATTAGTGGGGTGTGGTGGTACACGCCTGTAGTCCCAGCTACCCG
GGAAATATTAGCGGGGTGTGGTGGTACACGCCTGTAGTCCCAGCTACCCG
GGAAATATTAGCGGGGTGTGGTGGT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 619177
chr17:619182 G
G
 C
C
 4 a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
others(1): Show 
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0094g0129
 4 HG00423.hp2
NA18950.hp1
NA18961.hp1
others(1): Show 
HG00423.hp2
NA18950.hp1
NA18961.hp1
NA19060.hp2
 intron_variant MODIFIER c.1116+4351C>G
c.1116+4351C>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 619182
chr17:619185 G
G
 GC
GC
 4 a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
others(1): Show 
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0094g0129
 4 HG00423.hp2
NA18950.hp1
NA18961.hp1
others(1): Show 
HG00423.hp2
NA18950.hp1
NA18961.hp1
NA19060.hp2
 intron_variant MODIFIER c.1116+4347dupG
c.1116+4347dupG
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 619185
chr17:619188 T
T
 C
C
 4 a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
others(1): Show 
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0094g0129
 4 HG00423.hp2
NA18950.hp1
NA18961.hp1
others(1): Show 
HG00423.hp2
NA18950.hp1
NA18961.hp1
NA19060.hp2
 intron_variant MODIFIER c.1116+4345A>G
c.1116+4345A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 619188
chr17:619202 G
G
 A
A
 1 a0001c0006t0041g0001
a0001c0006t0041g0001
 1 HG01175.hp1
HG01175.hp1
 intron_variant MODIFIER c.1116+4331C>T
c.1116+4331C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 619202
chr17:619221 T
T
 C
C
 4 a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
others(1): Show 
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0094g0129
 4 HG00423.hp2
NA18950.hp1
NA18961.hp1
others(1): Show 
HG00423.hp2
NA18950.hp1
NA18961.hp1
NA19060.hp2
 intron_variant MODIFIER c.1116+4312A>G
c.1116+4312A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 619221
chr17:619223 C
C
 CGCA
CGCA
 4 a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
others(1): Show 
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0094g0129
 4 HG00423.hp2
NA18950.hp1
NA18961.hp1
others(1): Show 
HG00423.hp2
NA18950.hp1
NA18961.hp1
NA19060.hp2
 intron_variant MODIFIER c.1116+4309_1116+431
others(7): Show 
c.1116+4309_1116+4310insTGC
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 619223
chr17:619228 G
G
 A
A
 10 a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
others(7): Show 
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
 10 HG02135.hp2
HG02602.hp1
NA18747.hp1
others(7): Show 
HG02135.hp2
HG02602.hp1
NA18747.hp1
NA18955.hp2
NA18960.hp2
NA18994.hp2
NA19000.hp2
NA19010.hp2
NA19087.hp1
NA19091.hp1
 intron_variant MODIFIER c.1116+4305C>T
c.1116+4305C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 619228
chr17:619228 G
G
 C
C
 4 a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
others(1): Show 
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0094g0129
 4 HG00423.hp2
NA18950.hp1
NA18961.hp1
others(1): Show 
HG00423.hp2
NA18950.hp1
NA18961.hp1
NA19060.hp2
 intron_variant MODIFIER c.1116+4305C>G
c.1116+4305C>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 619228
chr17:619231 G
G
 GC
GC
 4 a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
others(1): Show 
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0094g0129
 4 HG00423.hp2
NA18950.hp1
NA18961.hp1
others(1): Show 
HG00423.hp2
NA18950.hp1
NA18961.hp1
NA19060.hp2
 intron_variant MODIFIER c.1116+4301dupG
c.1116+4301dupG
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 619231
chr17:619234 T
T
 C
C
 4 a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
others(1): Show 
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0094g0129
 4 HG00423.hp2
NA18950.hp1
NA18961.hp1
others(1): Show 
HG00423.hp2
NA18950.hp1
NA18961.hp1
NA19060.hp2
 intron_variant MODIFIER c.1116+4299A>G
c.1116+4299A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 619234
chr17:619247 T
T
 C
C
 4 a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
others(1): Show 
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0094g0129
 4 HG00423.hp2
NA18950.hp1
NA18961.hp1
others(1): Show 
HG00423.hp2
NA18950.hp1
NA18961.hp1
NA19060.hp2
 intron_variant MODIFIER c.1116+4286A>G
c.1116+4286A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 619247
chr17:619256 A
A
 G
G
 4 a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
others(1): Show 
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0094g0129
 4 HG00423.hp2
NA18950.hp1
NA18961.hp1
others(1): Show 
HG00423.hp2
NA18950.hp1
NA18961.hp1
NA19060.hp2
 intron_variant MODIFIER c.1116+4277T>C
c.1116+4277T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 619256
chr17:619265 C
C
 G
G
 4 a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
others(1): Show 
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0094g0129
 4 HG00423.hp2
NA18950.hp1
NA18961.hp1
others(1): Show 
HG00423.hp2
NA18950.hp1
NA18961.hp1
NA19060.hp2
 intron_variant MODIFIER c.1116+4268G>C
c.1116+4268G>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 619265
chr17:619267 T
T
 C
C
 4 a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
others(1): Show 
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0094g0129
 4 HG00423.hp2
NA18950.hp1
NA18961.hp1
others(1): Show 
HG00423.hp2
NA18950.hp1
NA18961.hp1
NA19060.hp2
 intron_variant MODIFIER c.1116+4266A>G
c.1116+4266A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 619267
chr17:619269 T
T
 C
C
 4 a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
others(1): Show 
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0094g0129
 4 HG00423.hp2
NA18950.hp1
NA18961.hp1
others(1): Show 
HG00423.hp2
NA18950.hp1
NA18961.hp1
NA19060.hp2
 intron_variant MODIFIER c.1116+4264A>G
c.1116+4264A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 619269
chr17:619274 C
C
 T
T
 2 a0001c0014t0135g0166
a0001c0015t0126g0149
a0001c0014t0135g0166
a0001c0015t0126g0149
 2 HG02572.hp1
HG02723.hp1
HG02572.hp1
HG02723.hp1
 intron_variant MODIFIER c.1116+4259G>A
c.1116+4259G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 619274
chr17:619279 C
C
 CG
CG
 4 a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
others(1): Show 
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0094g0129
 4 HG00423.hp2
NA18950.hp1
NA18961.hp1
others(1): Show 
HG00423.hp2
NA18950.hp1
NA18961.hp1
NA19060.hp2
 intron_variant MODIFIER c.1116+4253_1116+425
others(5): Show 
c.1116+4253_1116+4254insC
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 619279
chr17:619280 A
A
 C
C
 4 a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
others(1): Show 
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0094g0129
 4 HG00423.hp2
NA18950.hp1
NA18961.hp1
others(1): Show 
HG00423.hp2
NA18950.hp1
NA18961.hp1
NA19060.hp2
 intron_variant MODIFIER c.1116+4253T>G
c.1116+4253T>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 619280
chr17:619283 T
T
 C
C
 4 a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
others(1): Show 
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0094g0129
 4 HG00423.hp2
NA18950.hp1
NA18961.hp1
others(1): Show 
HG00423.hp2
NA18950.hp1
NA18961.hp1
NA19060.hp2
 intron_variant MODIFIER c.1116+4250A>G
c.1116+4250A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 619283
chr17:619294 T
T
 C
C
 4 a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
others(1): Show 
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0094g0129
 4 HG00423.hp2
NA18950.hp1
NA18961.hp1
others(1): Show 
HG00423.hp2
NA18950.hp1
NA18961.hp1
NA19060.hp2
 intron_variant MODIFIER c.1116+4239A>G
c.1116+4239A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 619294
chr17:619294 T
T
 TCCGGGTA
others(492): Show 
TCCGGGTAGCTGGGACTACAGGCATGCACCACCACGCCCCGCTAATATTT
CCCGGGTAGCTGGGACTACAGGCGCGCACCACCATGCCCCGCTAATATTT
CCCGGGTAGCTGGGACTACAGGCGTGCACCACCACACCCCACTAATATTT
TCCGGGTAGCTGGGACTACAGGCGTGCACCACCACGCCTGCTTATATTTC
CCGGATAGCTGGGACTACAGGCGTGCACCACCACACCCCGCTAATATTTC
CCGGGTAGCTGGGACTACAGGCGTGTACCACCACACCCCGCTAATATTTC
CCGGGTAGCTGGGACTACAGGCGTGTACCACCACACCCCACTAATATTTC
CCGGGTAGCTGGGACTACAGGCACGCACCACCACGCCCCGCTAATATTTC
CCGGGTAGCTGGGACTACAGGCGCGCACCACCACGCCCCGCTAATATTTC
CCGGGTAGCTGGGACTACAGGCGCGCACCACCACGCCCCGCTAATATTTC
 1 a0001c0001t0114g0142
a0001c0001t0114g0142
 1 HG02602.hp2
HG02602.hp2
 intron_variant MODIFIER c.1116+4238_1116+423
others(503): Show 
c.1116+4238_1116+4239insGAAATATTAGCGGGGCGTGGTGGTGC
GCGCCTGTAGTCCCAGCTACCCGGGAAATATTAGCGGGGCGTGGTGGTGC
GCGCCTGTAGTCCCAGCTACCCGGGAAATATTAGCGGGGCGTGGTGGTGC
GTGCCTGTAGTCCCAGCTACCCGGGAAATATTAGTGGGGTGTGGTGGTAC
ACGCCTGTAGTCCCAGCTACCCGGGAAATATTAGCGGGGTGTGGTGGTAC
ACGCCTGTAGTCCCAGCTACCCGGGAAATATTAGCGGGGTGTGGTGGTGC
ACGCCTGTAGTCCCAGCTATCCGGGAAATATAAGCAGGCGTGGTGGTGCA
CGCCTGTAGTCCCAGCTACCCGGAAAATATTAGTGGGGTGTGGTGGTGCA
CGCCTGTAGTCCCAGCTACCCGGGAAATATTAGCGGGGCATGGTGGTGCG
CGCCTGTAGTCCCAGCTACCCGGGAAATATTAGCGGGGCGTGGTGGTGCA
TGCCTGTAGTCCCAGCTACCCGG
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 619294
chr17:619317 G
G
 A
A
 64 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(61): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0032g0114
a0001c0001t0034g0126
a0001c0001t0069g0012
a0001c0001t0084g0046
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0098g0147
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0108g0148
a0001c0001t0110g0127
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0123g0123
a0001c0001t0128g0132
a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0001c0011t0051g0091
a0006c0012t0129g0140
 64 HG00423.hp2
HG00741.hp2
HG01074.hp2
others(61): Show 
HG00423.hp2
HG00741.hp2
HG01074.hp2
HG01081.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp2
HG01361.hp2
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp2
HG01928.hp2
HG01978.hp2
HG02040.hp2
HG02056.hp2
HG02083.hp2
HG02109.hp2
HG02129.hp2
HG02132.hp2
HG02135.hp2
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02602.hp1
HG02602.hp2
HG02818.hp2
HG02895.hp1
HG03225.hp2
HG03492.hp2
HG03516.hp1
HG03688.hp2
HG04184.hp2
HG04199.hp2
NA18747.hp1
NA18747.hp2
NA18940.hp2
NA18945.hp2
NA18950.hp1
NA18955.hp2
NA18960.hp2
NA18961.hp1
NA18967.hp2
NA18978.hp2
NA18983.hp2
NA18984.hp2
NA18987.hp2
NA18994.hp2
NA19000.hp2
NA19009.hp2
NA19010.hp2
NA19060.hp2
NA19064.hp2
NA19065.hp2
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19079.hp2
NA19081.hp2
NA19087.hp1
NA19091.hp1
NA20300.hp2
 intron_variant MODIFIER c.1116+4216C>T
c.1116+4216C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 619317
chr17:619318 C
C
 T
T
 64 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(61): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0032g0114
a0001c0001t0034g0126
a0001c0001t0069g0012
a0001c0001t0084g0046
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0098g0147
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0108g0148
a0001c0001t0110g0127
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0123g0123
a0001c0001t0128g0132
a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0001c0011t0051g0091
a0006c0012t0129g0140
 64 HG00423.hp2
HG00741.hp2
HG01074.hp2
others(61): Show 
HG00423.hp2
HG00741.hp2
HG01074.hp2
HG01081.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp2
HG01361.hp2
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp2
HG01928.hp2
HG01978.hp2
HG02040.hp2
HG02056.hp2
HG02083.hp2
HG02109.hp2
HG02129.hp2
HG02132.hp2
HG02135.hp2
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02602.hp1
HG02602.hp2
HG02818.hp2
HG02895.hp1
HG03225.hp2
HG03492.hp2
HG03516.hp1
HG03688.hp2
HG04184.hp2
HG04199.hp2
NA18747.hp1
NA18747.hp2
NA18940.hp2
NA18945.hp2
NA18950.hp1
NA18955.hp2
NA18960.hp2
NA18961.hp1
NA18967.hp2
NA18978.hp2
NA18983.hp2
NA18984.hp2
NA18987.hp2
NA18994.hp2
NA19000.hp2
NA19009.hp2
NA19010.hp2
NA19060.hp2
NA19064.hp2
NA19065.hp2
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19079.hp2
NA19081.hp2
NA19087.hp1
NA19091.hp1
NA20300.hp2
 intron_variant MODIFIER c.1116+4215G>A
c.1116+4215G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 619318
chr17:619387 A
A
 T
T
 1 a0001c0002t0078g0041
a0001c0002t0078g0041
 1 HG03516.hp2
HG03516.hp2
 intron_variant MODIFIER c.1116+4146T>A
c.1116+4146T>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 619387
chr17:619399 G
G
 A
A
 1 a0001c0002t0078g0041
a0001c0002t0078g0041
 1 HG03516.hp2
HG03516.hp2
 intron_variant MODIFIER c.1116+4134C>T
c.1116+4134C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 619399
chr17:619434 A
A
 G
G
 1 a0001c0002t0078g0041
a0001c0002t0078g0041
 1 HG03516.hp2
HG03516.hp2
 intron_variant MODIFIER c.1116+4099T>C
c.1116+4099T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 619434
chr17:619444 T
T
 C
C
 1 a0001c0002t0078g0041
a0001c0002t0078g0041
 1 HG03516.hp2
HG03516.hp2
 intron_variant MODIFIER c.1116+4089A>G
c.1116+4089A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 619444
chr17:619467 G
G
 A
A
 1 a0001c0002t0078g0041
a0001c0002t0078g0041
 1 HG03516.hp2
HG03516.hp2
 intron_variant MODIFIER c.1116+4066C>T
c.1116+4066C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 619467
chr17:619468 T
T
 A
A
 1 a0002c0003t0037g0115
a0002c0003t0037g0115
 1 NA18986.hp1
NA18986.hp1
 intron_variant MODIFIER c.1116+4065A>T
c.1116+4065A>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 619468
chr17:619479 G
G
 C
C
 1 a0001c0002t0078g0041
a0001c0002t0078g0041
 1 HG03516.hp2
HG03516.hp2
 intron_variant MODIFIER c.1116+4054C>G
c.1116+4054C>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 619479
chr17:619482 T
T
 C
C
 1 a0001c0002t0078g0041
a0001c0002t0078g0041
 1 HG03516.hp2
HG03516.hp2
 intron_variant MODIFIER c.1116+4051A>G
c.1116+4051A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 619482
chr17:619486 T
T
 A
A
 1 a0001c0002t0078g0041
a0001c0002t0078g0041
 1 HG03516.hp2
HG03516.hp2
 intron_variant MODIFIER c.1116+4047A>T
c.1116+4047A>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 619486
chr17:619498 A
A
 G
G
 1 a0001c0002t0078g0041
a0001c0002t0078g0041
 1 HG03516.hp2
HG03516.hp2
 intron_variant MODIFIER c.1116+4035T>C
c.1116+4035T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 619498
chr17:619519 C
C
 T
T
 1 a0001c0002t0078g0041
a0001c0002t0078g0041
 1 HG03516.hp2
HG03516.hp2
 intron_variant MODIFIER c.1116+4014G>A
c.1116+4014G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 619519
chr17:619566 A
A
 ATGCACCA
others(43): Show 
ATGCACCACCACACCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGC
G
 26 a0001c0001t0017g0158
a0001c0001t0028g0196
a0001c0001t0028g0197
others(23): Show 
a0001c0001t0017g0158
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0032g0204
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0034g0162
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0097g0199
a0001c0001t0105g0201
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0118g0195
a0001c0001t0122g0160
a0001c0001t0127g0159
a0001c0001t0134g0154
a0001c0001t0138g0161
a0001c0001t0141g0165
a0002c0003t0008g0182
a0002c0010t0038g0156
a0007c0013t0132g0163
 26 HG00741.hp1
HG01106.hp2
HG01109.hp1
others(23): Show 
HG00741.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01257.hp1
HG01258.hp2
HG01346.hp2
HG01884.hp1
HG01891.hp1
HG01891.hp2
HG02083.hp1
HG02622.hp1
HG02622.hp2
HG02723.hp2
HG02818.hp1
HG02886.hp2
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG03139.hp2
HG03225.hp1
HG04204.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA21309.hp1
 intron_variant MODIFIER c.1116+3917_1116+396
others(54): Show 
c.1116+3917_1116+3966dupCGCCTGTAGTCCCAGCTACCCGGGAA
ATATTAGCGGGGTGTGGTGGTGCA
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 619566
chr17:619566 A
A
 G
G
 43 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(40): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0032g0114
a0001c0001t0034g0126
a0001c0001t0069g0012
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0098g0147
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0108g0148
a0001c0001t0110g0127
a0001c0001t0113g0122
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0123g0123
a0001c0001t0128g0132
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0006c0012t0129g0140
 43 HG00741.hp2
HG01081.hp2
HG01175.hp2
others(40): Show 
HG00741.hp2
HG01081.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp2
HG01361.hp2
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp2
HG01928.hp2
HG01978.hp2
HG02040.hp2
HG02056.hp2
HG02083.hp2
HG02109.hp2
HG02129.hp2
HG02132.hp2
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02818.hp2
HG02895.hp1
HG03225.hp2
HG03688.hp2
HG04184.hp2
HG04199.hp2
NA18940.hp2
NA18945.hp2
NA18967.hp2
NA18978.hp2
NA18983.hp2
NA18987.hp2
NA19009.hp2
NA19065.hp2
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19079.hp2
NA19081.hp2
NA20300.hp2
 intron_variant MODIFIER c.1116+3967T>C
c.1116+3967T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 619566
chr17:619569 C
C
 T
T
 43 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(40): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0032g0114
a0001c0001t0034g0126
a0001c0001t0069g0012
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0098g0147
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0108g0148
a0001c0001t0110g0127
a0001c0001t0113g0122
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0123g0123
a0001c0001t0128g0132
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0006c0012t0129g0140
 43 HG00741.hp2
HG01081.hp2
HG01175.hp2
others(40): Show 
HG00741.hp2
HG01081.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp2
HG01361.hp2
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp2
HG01928.hp2
HG01978.hp2
HG02040.hp2
HG02056.hp2
HG02083.hp2
HG02109.hp2
HG02129.hp2
HG02132.hp2
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02818.hp2
HG02895.hp1
HG03225.hp2
HG03688.hp2
HG04184.hp2
HG04199.hp2
NA18940.hp2
NA18945.hp2
NA18967.hp2
NA18978.hp2
NA18983.hp2
NA18987.hp2
NA19009.hp2
NA19065.hp2
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19079.hp2
NA19081.hp2
NA20300.hp2
 intron_variant MODIFIER c.1116+3964G>A
c.1116+3964G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 619569
chr17:619578 A
A
 G
G
 1 a0001c0002t0078g0041
a0001c0002t0078g0041
 1 HG03516.hp2
HG03516.hp2
 intron_variant MODIFIER c.1116+3955T>C
c.1116+3955T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 619578
chr17:619590 T
T
 TTTCCCGG
others(43): Show 
TTTCCCGGGTAGCTGGGACTACAGGCGTGCACCACCACACCCCGCTAATA
C
 1 a0002c0003t0145g0187
a0002c0003t0145g0187
 1 HG04199.hp1
HG04199.hp1
 intron_variant MODIFIER c.1116+3942_1116+394
others(54): Show 
c.1116+3942_1116+3943insGTATTAGCGGGGTGTGGTGGTGCACG
CCTGTAGTCCCAGCTACCCGGGAA
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 619590
chr17:619617 T
T
 C
C
 1 a0001c0002t0078g0041
a0001c0002t0078g0041
 1 HG03516.hp2
HG03516.hp2
 intron_variant MODIFIER c.1116+3916A>G
c.1116+3916A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 619617
chr17:619617 T
T
 TGTACCAC
others(592): Show 
TGTACCACCACACCCCACTAATATTTCCCGGGTAGCTGGGACTACAGGCA
CGCACCACCACGCCCCGCTAATAGTTCCCGGGTAGCTGGGACTACAGGCG
CGCACCACCACGCCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCG
CGCACCACCACGCCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCA
TGCACCACCACGCCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCG
CGCACCACCATGCCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCG
TGCACCACCACACCCCACTAATATTTTCCGGGTAGCTGGGACTACAGGCG
TGCACCACCACGCCTGCTTATATTTCCCGGATAGCTGGGACTACAGGCGT
GCACCACCACACCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCAT
GCACCACCACACCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCGC
GTACCACCACACCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCGC
GTACCACCACGCCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCGC
 1 a0001c0001t0107g0212
a0001c0001t0107g0212
 1 HG01255.hp2
HG01255.hp2
 intron_variant MODIFIER c.1116+3915_1116+391
others(603): Show 
c.1116+3915_1116+3916insGCGCCTGTAGTCCCAGCTACCCGGGA
AATATTAGCGGGGCGTGGTGGTACGCGCCTGTAGTCCCAGCTACCCGGGA
AATATTAGCGGGGTGTGGTGGTACGCGCCTGTAGTCCCAGCTACCCGGGA
AATATTAGCGGGGTGTGGTGGTGCATGCCTGTAGTCCCAGCTACCCGGGA
AATATTAGCGGGGTGTGGTGGTGCACGCCTGTAGTCCCAGCTATCCGGGA
AATATAAGCAGGCGTGGTGGTGCACGCCTGTAGTCCCAGCTACCCGGAAA
ATATTAGTGGGGTGTGGTGGTGCACGCCTGTAGTCCCAGCTACCCGGGAA
ATATTAGCGGGGCATGGTGGTGCGCGCCTGTAGTCCCAGCTACCCGGGAA
ATATTAGCGGGGCGTGGTGGTGCATGCCTGTAGTCCCAGCTACCCGGGAA
ATATTAGCGGGGCGTGGTGGTGCGCGCCTGTAGTCCCAGCTACCCGGGAA
ATATTAGCGGGGCGTGGTGGTGCGCGCCTGTAGTCCCAGCTACCCGGGAA
CTATTAGCGGGGCGTGGTGGTGCGTGCCTGTAGTCCCAGCTACCCGGGAA
ATATTAGTGGGGTGTGGTGGTAC
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 619617
chr17:619617 T
T
 TGTACCAC
others(692): Show 
TGTACCACCACACCCCACTAATATTTCCCGGGTAGCTGGGACTACAGGCA
CGCACCACCACGCCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCG
CGCACCACCACGCCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCG
CGCACCACCACGCCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCA
TGCACCACCACGCCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCA
TGCACCACCACGCCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCG
CGCACCACCACGCCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCG
TGCACCACCACACCCCACTAATATTTTCCGGGTAGCTGGGACTACAGGCG
TGCACCACCACGCCTGCTTATATTTCCCGGATAGCTGGGACTACAGGCGT
GCACCACCACACCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCAT
GCACCACCACACCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCGT
GTACCACCACACCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCAT
GCACCACCACGCCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCGC
GCACCACCACGCCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCGC
 1 a0001c0001t0108g0148
a0001c0001t0108g0148
 1 HG01192.hp1
HG01192.hp1
 intron_variant MODIFIER c.1116+3915_1116+391
others(703): Show 
c.1116+3915_1116+3916insGCGCCTGTAGTCCCAGCTACCCGGGA
AATATTAGCGGGGCGTGGTGGTGCGCGCCTGTAGTCCCAGCTACCCGGGA
AATATTAGCGGGGCGTGGTGGTGCATGCCTGTAGTCCCAGCTACCCGGGA
AATATTAGCGGGGTGTGGTGGTACACGCCTGTAGTCCCAGCTACCCGGGA
AATATTAGCGGGGTGTGGTGGTGCATGCCTGTAGTCCCAGCTACCCGGGA
AATATTAGCGGGGTGTGGTGGTGCACGCCTGTAGTCCCAGCTATCCGGGA
AATATAAGCAGGCGTGGTGGTGCACGCCTGTAGTCCCAGCTACCCGGAAA
ATATTAGTGGGGTGTGGTGGTGCACGCCTGTAGTCCCAGCTACCCGGGAA
ATATTAGCGGGGCGTGGTGGTGCGCGCCTGTAGTCCCAGCTACCCGGGAA
ATATTAGCGGGGCGTGGTGGTGCATGCCTGTAGTCCCAGCTACCCGGGAA
ATATTAGCGGGGCGTGGTGGTGCATGCCTGTAGTCCCAGCTACCCGGGAA
ATATTAGCGGGGCGTGGTGGTGCGCGCCTGTAGTCCCAGCTACCCGGGAA
ATATTAGCGGGGCGTGGTGGTGCGCGCCTGTAGTCCCAGCTACCCGGGAA
ATATTAGCGGGGCGTGGTGGTGCGTGCCTGTAGTCCCAGCTACCCGGGAA
ATATTAGTGGGGTGTGGTGGTAC
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 619617
chr17:619617 T
T
 TGTACCAC
others(642): Show 
TGTACCACCACACCCCACTAATATTTCCCGGGTAGCTGGGACTACAGGCA
CGCACCACCACGCCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCG
CGCACCACCACGCCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCG
CGCACCACCACGCCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCA
TGCACCACCACGCCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCA
TGCACCACCACGCCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCG
CGCACCACCATGCCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCG
TGCACCACCACACCCCACTAATATTTTCCGGGTAGCTGGGACTACAGGCG
TGCACCACCACGCCTGCTTATATTTCCCGGATAGCTGGGACTACAGGCGT
GCACCACCACACCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCAT
GCACCACCACACCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCGT
GTACCACCACACCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCAT
GCACCACCACGCCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCGC
 2 a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0095g0145
a0001c0001t0096g0146
 2 HG03225.hp2
NA20300.hp2
HG03225.hp2
NA20300.hp2
 intron_variant MODIFIER c.1116+3915_1116+391
others(653): Show 
c.1116+3915_1116+3916insGCGCCTGTAGTCCCAGCTACCCGGGA
AATATTAGCGGGGCGTGGTGGTGCATGCCTGTAGTCCCAGCTACCCGGGA
AATATTAGCGGGGTGTGGTGGTACACGCCTGTAGTCCCAGCTACCCGGGA
AATATTAGCGGGGTGTGGTGGTGCATGCCTGTAGTCCCAGCTACCCGGGA
AATATTAGCGGGGTGTGGTGGTGCACGCCTGTAGTCCCAGCTATCCGGGA
AATATAAGCAGGCGTGGTGGTGCACGCCTGTAGTCCCAGCTACCCGGAAA
ATATTAGTGGGGTGTGGTGGTGCACGCCTGTAGTCCCAGCTACCCGGGAA
ATATTAGCGGGGCATGGTGGTGCGCGCCTGTAGTCCCAGCTACCCGGGAA
ATATTAGCGGGGCGTGGTGGTGCATGCCTGTAGTCCCAGCTACCCGGGAA
ATATTAGCGGGGCGTGGTGGTGCATGCCTGTAGTCCCAGCTACCCGGGAA
ATATTAGCGGGGCGTGGTGGTGCGCGCCTGTAGTCCCAGCTACCCGGGAA
ATATTAGCGGGGCGTGGTGGTGCGCGCCTGTAGTCCCAGCTACCCGGGAA
ATATTAGCGGGGCGTGGTGGTGCGTGCCTGTAGTCCCAGCTACCCGGGAA
ATATTAGTGGGGTGTGGTGGTAC
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 619617
chr17:619617 T
T
 TGTACCAC
others(642): Show 
TGTACCACCACACCCCACTAATATTTCCCGGGTAGCTGGGACTACAGGCA
CGCACCACCACGCCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCG
CGCACCACCACGCCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCG
CGCACCACCACGCCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCA
TGCACCACCACGCCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCA
TGCACCACCACGCCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCG
CGCACCACCATGCCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCG
TGCACCACCACACCCCACTAATATTTTCCGGGTAGCTGGGACTACAGGCG
TGCACCACCACGCCTGCTTATATTTCCCGGATAGCTGGGACTACAGGCGT
GCACCACCACACCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCAT
GCACCACCACACCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCGT
GTACCACCACACCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCGT
GTACCACCACGCCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCGC
 3 a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0106g0117
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0106g0117
 3 HG01884.hp2
HG02109.hp2
HG02280.hp2
HG01884.hp2
HG02109.hp2
HG02280.hp2
 intron_variant MODIFIER c.1116+3915_1116+391
others(653): Show 
c.1116+3915_1116+3916insGCGCCTGTAGTCCCAGCTACCCGGGA
AATATTAGCGGGGCGTGGTGGTACACGCCTGTAGTCCCAGCTACCCGGGA
AATATTAGCGGGGTGTGGTGGTACACGCCTGTAGTCCCAGCTACCCGGGA
AATATTAGCGGGGTGTGGTGGTGCATGCCTGTAGTCCCAGCTACCCGGGA
AATATTAGCGGGGTGTGGTGGTGCACGCCTGTAGTCCCAGCTATCCGGGA
AATATAAGCAGGCGTGGTGGTGCACGCCTGTAGTCCCAGCTACCCGGAAA
ATATTAGTGGGGTGTGGTGGTGCACGCCTGTAGTCCCAGCTACCCGGGAA
ATATTAGCGGGGCATGGTGGTGCGCGCCTGTAGTCCCAGCTACCCGGGAA
ATATTAGCGGGGCGTGGTGGTGCATGCCTGTAGTCCCAGCTACCCGGGAA
ATATTAGCGGGGCGTGGTGGTGCATGCCTGTAGTCCCAGCTACCCGGGAA
ATATTAGCGGGGCGTGGTGGTGCGCGCCTGTAGTCCCAGCTACCCGGGAA
ATATTAGCGGGGCGTGGTGGTGCGCGCCTGTAGTCCCAGCTACCCGGGAA
ATATTAGCGGGGCGTGGTGGTGCGTGCCTGTAGTCCCAGCTACCCGGGAA
ATATTAGTGGGGTGTGGTGGTAC
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 619617
chr17:619617 T
T
 TGTACCAC
others(642): Show 
TGTACCACCACACCCCACTAATATTTCCCGGGTAGCTGGGACTACAGGCA
CGCACCACCACGCCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCG
CGCACCACCACGCCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCG
CGCACCACCACGCCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCA
TGCACCACCACGCCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCA
TGCACCACCACGCCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCG
CGCACCACCATGCCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCG
TGCACCACCACACCCCACTAATATTTTCCGGGTAGCTGGGACTACAGGCG
TGCACCACCACGCCTGCTTATATTTCCCGGATAGCTGGGACTACAGGCGT
GCACCACCACACCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCAT
GCACCACCACACCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCGT
GTACCACCACACCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCTT
GCACCACCACGCCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCGC
 1 a0001c0001t0098g0147
a0001c0001t0098g0147
 1 HG02818.hp2
HG02818.hp2
 intron_variant MODIFIER c.1116+3915_1116+391
others(653): Show 
c.1116+3915_1116+3916insGCGCCTGTAGTCCCAGCTACCCGGGA
AATATTAGCGGGGCGTGGTGGTGCAAGCCTGTAGTCCCAGCTACCCGGGA
AATATTAGCGGGGTGTGGTGGTACACGCCTGTAGTCCCAGCTACCCGGGA
AATATTAGCGGGGTGTGGTGGTGCATGCCTGTAGTCCCAGCTACCCGGGA
AATATTAGCGGGGTGTGGTGGTGCACGCCTGTAGTCCCAGCTATCCGGGA
AATATAAGCAGGCGTGGTGGTGCACGCCTGTAGTCCCAGCTACCCGGAAA
ATATTAGTGGGGTGTGGTGGTGCACGCCTGTAGTCCCAGCTACCCGGGAA
ATATTAGCGGGGCATGGTGGTGCGCGCCTGTAGTCCCAGCTACCCGGGAA
ATATTAGCGGGGCGTGGTGGTGCATGCCTGTAGTCCCAGCTACCCGGGAA
ATATTAGCGGGGCGTGGTGGTGCATGCCTGTAGTCCCAGCTACCCGGGAA
ATATTAGCGGGGCGTGGTGGTGCGCGCCTGTAGTCCCAGCTACCCGGGAA
ATATTAGCGGGGCGTGGTGGTGCGCGCCTGTAGTCCCAGCTACCCGGGAA
ATATTAGCGGGGCGTGGTGGTGCGTGCCTGTAGTCCCAGCTACCCGGGAA
ATATTAGTGGGGTGTGGTGGTAC
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 619617
chr17:619617 T
T
 TGTACCAC
others(642): Show 
TGTACCACCACACCCCACTAATATTTCCCGGGTAGCTGGGACTACAGGCA
CGCACCACCACGCCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCG
CGCACCACCACGCCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCG
CGCACCACCACGCCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCA
TGCACCACCACGCCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCG
CGCACCACCATGCCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCG
TGCACCACCACACCCCACTAATATTTTCCGGGTAGCTGGGACTACAGGCG
TGCACCACCACGCCTGCTTATATTTCCCGGATAGCTGGGACTACAGGCGT
GCACCACCACACCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCAT
GCACCACCACACCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCGC
GTACCACCACACCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCGC
GTACCACCACGCCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCGC
GCACCACCACGCCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCGC
 4 a0001c0001t0002g0137
a0001c0001t0016g0124
a0001c0001t0110g0127
others(1): Show 
a0001c0001t0002g0137
a0001c0001t0016g0124
a0001c0001t0110g0127
a0001c0001t0123g0123
 4 NA19009.hp2
NA19065.hp2
NA19068.hp2
others(1): Show 
NA19009.hp2
NA19065.hp2
NA19068.hp2
NA19081.hp2
 intron_variant MODIFIER c.1116+3915_1116+391
others(653): Show 
c.1116+3915_1116+3916insGCGCCTGTAGTCCCAGCTACCCGGGA
AATATTAGCGGGGCGTGGTGGTGCGCGCCTGTAGTCCCAGCTACCCGGGA
AATATTAGCGGGGCGTGGTGGTACGCGCCTGTAGTCCCAGCTACCCGGGA
AATATTAGCGGGGTGTGGTGGTACGCGCCTGTAGTCCCAGCTACCCGGGA
AATATTAGCGGGGTGTGGTGGTGCATGCCTGTAGTCCCAGCTACCCGGGA
AATATTAGCGGGGTGTGGTGGTGCACGCCTGTAGTCCCAGCTATCCGGGA
AATATAAGCAGGCGTGGTGGTGCACGCCTGTAGTCCCAGCTACCCGGAAA
ATATTAGTGGGGTGTGGTGGTGCACGCCTGTAGTCCCAGCTACCCGGGAA
ATATTAGCGGGGCATGGTGGTGCGCGCCTGTAGTCCCAGCTACCCGGGAA
ATATTAGCGGGGCGTGGTGGTGCATGCCTGTAGTCCCAGCTACCCGGGAA
ATATTAGCGGGGCGTGGTGGTGCGCGCCTGTAGTCCCAGCTACCCGGGAA
ATATTAGCGGGGCGTGGTGGTGCGCGCCTGTAGTCCCAGCTACCCGGGAA
ATATTAGCGGGGCGTGGTGGTGCGTGCCTGTAGTCCCAGCTACCCGGGAA
ATATTAGTGGGGTGTGGTGGTAC
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 619617
chr17:619617 T
T
 TGTACCAC
others(592): Show 
TGTACCACCACACCCCACTAATATTTCCCGGGTAGCTGGGACTACAGGCA
CGCACCACCACGCCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCG
CGCACCACCACGCCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCG
CGCACCACCACGCCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCA
TGCACCACCACGCCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCG
CGCACCACCATGCCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCG
TGCACCACCACACCCCACTAATATTTTCCGGGTAGCTGGGACTACAGGCG
TGCACCACCACGCCTGCTTATATTTCCCGGATAGCTGGGACTACAGGCGT
GCACCACCACACCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCAT
GCACCACCACACCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCGT
GTACCACCACACCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCGC
GTACCACCACGCCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCGC
 28 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(25): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0016g0118
a0001c0001t0016g0125
a0001c0001t0034g0126
a0001c0001t0069g0012
a0001c0001t0113g0122
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0128g0132
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
 28 HG00741.hp2
HG01081.hp2
HG01175.hp2
others(25): Show 
HG00741.hp2
HG01081.hp2
HG01175.hp2
HG01192.hp2
HG01256.hp2
HG01361.hp2
HG01496.hp2
HG01515.hp1
HG01928.hp2
HG01978.hp2
HG02040.hp2
HG02056.hp2
HG02083.hp2
HG02129.hp2
HG02132.hp2
HG02293.hp2
HG02300.hp2
HG03688.hp2
HG04184.hp2
HG04199.hp2
NA18940.hp2
NA18945.hp2
NA18967.hp2
NA18983.hp2
NA18987.hp2
NA19070.hp2
NA19074.hp2
NA19079.hp2
 intron_variant MODIFIER c.1116+3915_1116+391
others(603): Show 
c.1116+3915_1116+3916insGCGCCTGTAGTCCCAGCTACCCGGGA
AATATTAGCGGGGCGTGGTGGTACGCGCCTGTAGTCCCAGCTACCCGGGA
AATATTAGCGGGGTGTGGTGGTACACGCCTGTAGTCCCAGCTACCCGGGA
AATATTAGCGGGGTGTGGTGGTGCATGCCTGTAGTCCCAGCTACCCGGGA
AATATTAGCGGGGTGTGGTGGTGCACGCCTGTAGTCCCAGCTATCCGGGA
AATATAAGCAGGCGTGGTGGTGCACGCCTGTAGTCCCAGCTACCCGGAAA
ATATTAGTGGGGTGTGGTGGTGCACGCCTGTAGTCCCAGCTACCCGGGAA
ATATTAGCGGGGCATGGTGGTGCGCGCCTGTAGTCCCAGCTACCCGGGAA
ATATTAGCGGGGCGTGGTGGTGCATGCCTGTAGTCCCAGCTACCCGGGAA
ATATTAGCGGGGCGTGGTGGTGCGCGCCTGTAGTCCCAGCTACCCGGGAA
ATATTAGCGGGGCGTGGTGGTGCGCGCCTGTAGTCCCAGCTACCCGGGAA
ATATTAGCGGGGCGTGGTGGTGCGTGCCTGTAGTCCCAGCTACCCGGGAA
ATATTAGTGGGGTGTGGTGGTAC
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 619617
chr17:619617 T
T
 TGTACCAC
others(642): Show 
TGTACCACCACACCCCACTAATATTTCCCGGGTAGCTGGGACTACAGGCA
CGCACCACCACGCCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCG
CGCACCACCACGCCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCG
CGCACCACCACGCCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCA
TGCACCACCACGCCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCG
CGCACCACCATGCCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCG
TGCACCACCACACCCCACTAATATTTTCCGGGTAGCTGGGACTACAGGCG
TGCACCACCACGCCTGCTTATATTTCCCGGATAGCTGGGACTACAGGCGT
GCACCACCACACCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCAT
GCACCACCACACCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCGT
GTACCACCACACCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCGC
GTACCACCACGCCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCGC
GCACCACCACGCCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCGC
 1 a0006c0012t0129g0140
a0006c0012t0129g0140
 1 NA18978.hp2
NA18978.hp2
 intron_variant MODIFIER c.1116+3915_1116+391
others(653): Show 
c.1116+3915_1116+3916insGCGCCTGTAGTCCCAGCTACCCGGGA
AATATTAGCGGGGCGTGGTGGTGCGCGCCTGTAGTCCCAGCTACCCGGGA
AATATTAGCGGGGCGTGGTGGTACGCGCCTGTAGTCCCAGCTACCCGGGA
AATATTAGCGGGGTGTGGTGGTACACGCCTGTAGTCCCAGCTACCCGGGA
AATATTAGCGGGGTGTGGTGGTGCATGCCTGTAGTCCCAGCTACCCGGGA
AATATTAGCGGGGTGTGGTGGTGCACGCCTGTAGTCCCAGCTATCCGGGA
AATATAAGCAGGCGTGGTGGTGCACGCCTGTAGTCCCAGCTACCCGGAAA
ATATTAGTGGGGTGTGGTGGTGCACGCCTGTAGTCCCAGCTACCCGGGAA
ATATTAGCGGGGCATGGTGGTGCGCGCCTGTAGTCCCAGCTACCCGGGAA
ATATTAGCGGGGCGTGGTGGTGCATGCCTGTAGTCCCAGCTACCCGGGAA
ATATTAGCGGGGCGTGGTGGTGCGCGCCTGTAGTCCCAGCTACCCGGGAA
ATATTAGCGGGGCGTGGTGGTGCGCGCCTGTAGTCCCAGCTACCCGGGAA
ATATTAGCGGGGCGTGGTGGTGCGTGCCTGTAGTCCCAGCTACCCGGGAA
ATATTAGTGGGGTGTGGTGGTAC
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 619617
chr17:619617 T
T
 TGTACCAC
others(642): Show 
TGTACCACCACACCCCACTAATATTTCCCGGGTAGCTGGGACTACAGGCA
CGCACCACCACGCCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCG
CGCACCACCACGCCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCG
CGCACCACCACGCCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCG
CGCACCACCACGCCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCA
TGCACCACCACGCCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCA
TGCACCACCACGCCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCG
TGCACCACCACACCCCACTAATATTTTCCGGGTAGCTGGGACTACAGGCG
TGCACCACCACGCCTGCTTATATTTCCCGGATAGCTGGGACTACAGGCGT
GCACCACCACACCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCAT
GCACCACCACACCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCGT
GTACCACCACACCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCAT
GCACCACCACGCCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCGC
 1 a0001c0001t0032g0114
a0001c0001t0032g0114
 1 HG02895.hp1
HG02895.hp1
 intron_variant MODIFIER c.1116+3915_1116+391
others(653): Show 
c.1116+3915_1116+3916insGCGCCTGTAGTCCCAGCTACCCGGGA
AATATTAGCGGGGCGTGGTGGTGCATGCCTGTAGTCCCAGCTACCCGGGA
AATATTAGCGGGGTGTGGTGGTACACGCCTGTAGTCCCAGCTACCCGGGA
AATATTAGCGGGGTGTGGTGGTGCATGCCTGTAGTCCCAGCTACCCGGGA
AATATTAGCGGGGTGTGGTGGTGCACGCCTGTAGTCCCAGCTATCCGGGA
AATATAAGCAGGCGTGGTGGTGCACGCCTGTAGTCCCAGCTACCCGGAAA
ATATTAGTGGGGTGTGGTGGTGCACGCCTGTAGTCCCAGCTACCCGGGAA
ATATTAGCGGGGCGTGGTGGTGCATGCCTGTAGTCCCAGCTACCCGGGAA
ATATTAGCGGGGCGTGGTGGTGCATGCCTGTAGTCCCAGCTACCCGGGAA
ATATTAGCGGGGCGTGGTGGTGCGCGCCTGTAGTCCCAGCTACCCGGGAA
ATATTAGCGGGGCGTGGTGGTGCGCGCCTGTAGTCCCAGCTACCCGGGAA
ATATTAGCGGGGCGTGGTGGTGCGCGCCTGTAGTCCCAGCTACCCGGGAA
ATATTAGCGGGGCGTGGTGGTGCGTGCCTGTAGTCCCAGCTACCCGGGAA
ATATTAGTGGGGTGTGGTGGTAC
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 619617
chr17:619617 T
T
 TGTACCAC
others(93): Show 
TGTACCACCACACCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCG
CGTACCACCACGCCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCG
C
 4 a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
others(1): Show 
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0094g0129
 4 HG00423.hp2
NA18950.hp1
NA18961.hp1
others(1): Show 
HG00423.hp2
NA18950.hp1
NA18961.hp1
NA19060.hp2
 intron_variant MODIFIER c.1116+3915_1116+391
others(104): Show 
c.1116+3915_1116+3916insGCGCCTGTAGTCCCAGCTACCCGGGA
AATATTAGCGGGGCGTGGTGGTACGCGCCTGTAGTCCCAGCTACCCGGGA
AATATTAGCGGGGTGTGGTGGTAC
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 619617
chr17:619619 C
C
 T
T
 18 a0001c0001t0084g0046
a0001c0001t0114g0142
a0001c0001t0115g0136
others(15): Show 
a0001c0001t0084g0046
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0007t0011g0105
a0001c0011t0051g0091
 18 HG01074.hp2
HG01517.hp2
HG02135.hp2
others(15): Show 
HG01074.hp2
HG01517.hp2
HG02135.hp2
HG02602.hp1
HG02602.hp2
HG03492.hp2
HG03516.hp1
NA18747.hp1
NA18747.hp2
NA18955.hp2
NA18960.hp2
NA18984.hp2
NA18994.hp2
NA19000.hp2
NA19010.hp2
NA19064.hp2
NA19087.hp1
NA19091.hp1
 intron_variant MODIFIER c.1116+3914G>A
c.1116+3914G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 619619
chr17:619628 A
A
 ACCCCACT
others(542): Show 
ACCCCACTAATATTTCCCGGGTAGCTGGGACTACAGGCACGCACCACCAC
GCCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCGCGCACCACCAC
GCCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCGCGCACCACCAC
GCCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCATGCACCACCAC
GCCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCGCGCACCACCAT
GCCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCGTGCACCACCAC
ACCCCACTAATATTTTCCGGGTAGCTGGGACTACAGGCGTGCACCACCAC
GCCTGCTTATATTTCCCGGATAGCTGGGACTACAGGCGTGCACCACCACA
CCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCATGCACCACCACA
CCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCGTGTACCACCACA
CCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCGCGTACCACCACG
 1 a0001c0007t0011g0105
a0001c0007t0011g0105
 1 HG01517.hp2
HG01517.hp2
 intron_variant MODIFIER c.1116+3904_1116+390
others(553): Show 
c.1116+3904_1116+3905insCGTGGTGGTACGCGCCTGTAGTCCCA
GCTACCCGGGAAATATTAGCGGGGTGTGGTGGTACACGCCTGTAGTCCCA
GCTACCCGGGAAATATTAGCGGGGTGTGGTGGTGCATGCCTGTAGTCCCA
GCTACCCGGGAAATATTAGCGGGGTGTGGTGGTGCACGCCTGTAGTCCCA
GCTATCCGGGAAATATAAGCAGGCGTGGTGGTGCACGCCTGTAGTCCCAG
CTACCCGGAAAATATTAGTGGGGTGTGGTGGTGCACGCCTGTAGTCCCAG
CTACCCGGGAAATATTAGCGGGGCATGGTGGTGCGCGCCTGTAGTCCCAG
CTACCCGGGAAATATTAGCGGGGCGTGGTGGTGCATGCCTGTAGTCCCAG
CTACCCGGGAAATATTAGCGGGGCGTGGTGGTGCGCGCCTGTAGTCCCAG
CTACCCGGGAAATATTAGCGGGGCGTGGTGGTGCGCGCCTGTAGTCCCAG
CTACCCGGGAAATATTAGCGGGGCGTGGTGGTGCGTGCCTGTAGTCCCAG
CTACCCGGGAAATATTAGTGGGG
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 619628
chr17:619628 A
A
 G
G
 47 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(44): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0032g0114
a0001c0001t0034g0126
a0001c0001t0069g0012
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0098g0147
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0108g0148
a0001c0001t0110g0127
a0001c0001t0113g0122
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0123g0123
a0001c0001t0128g0132
a0001c0002t0078g0041
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0006c0012t0129g0140
 47 HG00423.hp2
HG00741.hp2
HG01081.hp2
others(44): Show 
HG00423.hp2
HG00741.hp2
HG01081.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp2
HG01361.hp2
HG01496.hp2
HG01515.hp1
HG01884.hp2
HG01928.hp2
HG01978.hp2
HG02040.hp2
HG02056.hp2
HG02083.hp2
HG02109.hp2
HG02129.hp2
HG02132.hp2
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02818.hp2
HG02895.hp1
HG03225.hp2
HG03516.hp2
HG03688.hp2
HG04184.hp2
HG04199.hp2
NA18940.hp2
NA18945.hp2
NA18950.hp1
NA18961.hp1
NA18967.hp2
NA18978.hp2
NA18983.hp2
NA18987.hp2
NA19009.hp2
NA19060.hp2
NA19065.hp2
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19079.hp2
NA19081.hp2
NA20300.hp2
 intron_variant MODIFIER c.1116+3905T>C
c.1116+3905T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 619628
chr17:619666 G
G
 A
A
 85 a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
others(82): Show 
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0078g0041
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0016t0052g0099
a0002c0003t0073g0068
a0002c0003t0145g0187
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
 85 HG00099.hp2
HG00140.hp2
HG00280.hp1
others(82): Show 
HG00099.hp2
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00621.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01099.hp2
HG01106.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01255.hp1
HG01256.hp1
HG01257.hp2
HG01258.hp1
HG01361.hp1
HG01496.hp1
HG01515.hp2
HG01516.hp2
HG01517.hp1
HG01978.hp1
HG01981.hp2
HG02074.hp1
HG02109.hp1
HG02135.hp1
HG02738.hp1
HG02886.hp1
HG03491.hp1
HG03492.hp1
HG03516.hp2
HG03688.hp1
HG03831.hp2
HG04199.hp1
HG04204.hp2
NA18612.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18944.hp1
NA18945.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp2
NA18957.hp1
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18967.hp1
NA18973.hp1
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18979.hp1
NA18984.hp1
NA18986.hp2
NA18990.hp1
NA18994.hp1
NA19007.hp1
NA19009.hp1
NA19011.hp2
NA19060.hp1
NA19064.hp1
NA19065.hp1
NA19068.hp1
NA19070.hp1
NA19079.hp1
NA19080.hp1
NA19081.hp1
NA19084.hp1
NA19087.hp2
NA19090.hp1
NA19091.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1116+3867C>T
c.1116+3867C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 619666
chr17:619666 G
G
 GTGCACCA
others(43): Show 
GTGCACCACCACACCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGC
A
 52 a0001c0002t0017g0225
a0001c0002t0035g0219
a0001c0002t0038g0224
others(49): Show 
a0001c0002t0017g0225
a0001c0002t0035g0219
a0001c0002t0038g0224
a0001c0002t0050g0049
a0001c0002t0086g0221
a0001c0002t0100g0223
a0001c0002t0109g0222
a0001c0002t0125g0116
a0001c0002t0143g0226
a0001c0002t0149g0202
a0001c0014t0135g0166
a0001c0015t0126g0149
a0002c0003t0008g0180
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0017g0179
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0018g0231
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0036g0176
a0002c0003t0037g0168
a0002c0003t0085g0184
a0002c0003t0089g0175
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0099g0192
a0002c0003t0104g0208
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0146g0170
a0002c0003t0148g0174
a0002c0003t0150g0191
a0004c0008t0035g0203
a0004c0008t0036g0207
a0004c0008t0103g0227
a0004c0008t0124g0229
a0004c0008t0133g0232
a0004c0008t0142g0228
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
 52 HG00099.hp1
HG00140.hp1
HG00323.hp2
others(49): Show 
HG00099.hp1
HG00140.hp1
HG00323.hp2
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00621.hp1
HG01070.hp2
HG01071.hp1
HG01099.hp1
HG01167.hp1
HG01346.hp1
HG01516.hp1
HG01928.hp1
HG01981.hp1
HG02040.hp1
HG02056.hp1
HG02074.hp2
HG02129.hp1
HG02132.hp1
HG02145.hp1
HG02280.hp1
HG02293.hp1
HG02300.hp1
HG02572.hp1
HG02723.hp1
HG02738.hp2
HG03491.hp2
HG03831.hp1
HG03942.hp1
HG03942.hp2
HG04184.hp1
NA18612.hp1
NA18944.hp2
NA18946.hp1
NA18955.hp1
NA18957.hp2
NA18973.hp2
NA18979.hp2
NA18983.hp1
NA18987.hp1
NA18990.hp2
NA19000.hp1
NA19007.hp2
NA19010.hp1
NA19011.hp1
NA19066.hp1
NA19066.hp2
NA19074.hp1
NA19080.hp2
NA19084.hp2
NA19090.hp2
 intron_variant MODIFIER c.1116+3866_1116+386
others(54): Show 
c.1116+3866_1116+3867insTGCCTGTAGTCCCAGCTACCCGGGAA
ATATTAGCGGGGTGTGGTGGTGCA
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 619666
chr17:619666 G
G
 GTGCCCAC
others(42): Show 
GTGCCCACCACACCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCA
 1 a0002c0003t0037g0115
a0002c0003t0037g0115
 1 NA18986.hp1
NA18986.hp1
 intron_variant MODIFIER c.1116+3866_1116+386
others(53): Show 
c.1116+3866_1116+3867insTGCCTGTAGTCCCAGCTACCCGGGAA
ATATTAGCGGGGTGTGGTGGGCA
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 619666
chr17:619666 G
G
 GTGTACCA
others(742): Show 
GTGTACCACCACACCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGC
ACGCACCACCACGCCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGC
GCGCACCACCACGCCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGC
GCGCACCACCACGCCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGC
GCGCACCACCACGCCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGC
ATGCACCACCACGCCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGC
ATGCACCACCACGCCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGC
GCGCACCACCATGCCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGC
GTGCACCACCACACCCCACTAATATTTCCCGGGTAGCTGGGACTACAGGC
GTGCACCACCACGCCTGCTTATATTTCCCGGATAGCTGGGACTACAGGCG
TGCACCACCACACCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCA
TGCACCACCACACCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCG
TGTACCACCACACCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCA
TGCACCACCACGCCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCG
CGCACCACCACGCCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCA
 1 a0001c0011t0051g0091
a0001c0011t0051g0091
 1 HG01074.hp2
HG01074.hp2
 intron_variant MODIFIER c.1116+3866_1116+386
others(753): Show 
c.1116+3866_1116+3867insTGCCTGTAGTCCCAGCTACCCGGGAA
ATATTAGCGGGGCGTGGTGGTGCGCGCCTGTAGTCCCAGCTACCCGGGAA
ATATTAGCGGGGCGTGGTGGTGCATGCCTGTAGTCCCAGCTACCCGGGAA
ATATTAGCGGGGTGTGGTGGTACACGCCTGTAGTCCCAGCTACCCGGGAA
ATATTAGCGGGGTGTGGTGGTGCATGCCTGTAGTCCCAGCTACCCGGGAA
ATATTAGCGGGGTGTGGTGGTGCACGCCTGTAGTCCCAGCTATCCGGGAA
ATATAAGCAGGCGTGGTGGTGCACGCCTGTAGTCCCAGCTACCCGGGAAA
TATTAGTGGGGTGTGGTGGTGCACGCCTGTAGTCCCAGCTACCCGGGAAA
TATTAGCGGGGCATGGTGGTGCGCGCCTGTAGTCCCAGCTACCCGGGAAA
TATTAGCGGGGCGTGGTGGTGCATGCCTGTAGTCCCAGCTACCCGGGAAA
TATTAGCGGGGCGTGGTGGTGCATGCCTGTAGTCCCAGCTACCCGGGAAA
TATTAGCGGGGCGTGGTGGTGCGCGCCTGTAGTCCCAGCTACCCGGGAAA
TATTAGCGGGGCGTGGTGGTGCGCGCCTGTAGTCCCAGCTACCCGGGAAA
TATTAGCGGGGCGTGGTGGTGCGCGCCTGTAGTCCCAGCTACCCGGGAAA
TATTAGCGGGGCGTGGTGGTGCGTGCCTGTAGTCCCAGCTACCCGGGAAA
TATTAGCGGGGTGTGGTGGTACA
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 619666
chr17:619666 G
G
 GTGTACCA
others(792): Show 
GTGTACCACCACACCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGC
ACGCACCACCACGCCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGC
GCGCACCACCACGCCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGC
GCGCACCACCACGCCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGC
GCGCACCACCACGCCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGC
GCGCACCACCACGCCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGC
ATGCACCACCACGCCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGC
ATGCACCACCACGCCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGC
GCGCACCACCATGCCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGC
GTGCACCACCACACCCCACTAATATTTCCCGGGTAGCTGGGACTACAGGC
GTGCACCACCACGCCTGCTTATATTTCCCGGATAGCTGGGACTACAGGCG
TGCACCACCACACCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCA
TGCACCACCACACCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCG
TGTACCACCACACCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCA
TGCACCACCACGCCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCG
CGCACCACCATGCCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCA
 2 a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0002t0065g0093
a0001c0002t0077g0095
 2 NA18984.hp2
NA19064.hp2
NA18984.hp2
NA19064.hp2
 intron_variant MODIFIER c.1116+3866_1116+386
others(803): Show 
c.1116+3866_1116+3867insTGCCTGTAGTCCCAGCTACCCGGGAA
ATATTAGCGGGGCATGGTGGTGCGCGCCTGTAGTCCCAGCTACCCGGGAA
ATATTAGCGGGGCGTGGTGGTGCATGCCTGTAGTCCCAGCTACCCGGGAA
ATATTAGCGGGGTGTGGTGGTACACGCCTGTAGTCCCAGCTACCCGGGAA
ATATTAGCGGGGTGTGGTGGTGCATGCCTGTAGTCCCAGCTACCCGGGAA
ATATTAGCGGGGTGTGGTGGTGCACGCCTGTAGTCCCAGCTATCCGGGAA
ATATAAGCAGGCGTGGTGGTGCACGCCTGTAGTCCCAGCTACCCGGGAAA
TATTAGTGGGGTGTGGTGGTGCACGCCTGTAGTCCCAGCTACCCGGGAAA
TATTAGCGGGGCATGGTGGTGCGCGCCTGTAGTCCCAGCTACCCGGGAAA
TATTAGCGGGGCGTGGTGGTGCATGCCTGTAGTCCCAGCTACCCGGGAAA
TATTAGCGGGGCGTGGTGGTGCATGCCTGTAGTCCCAGCTACCCGGGAAA
TATTAGCGGGGCGTGGTGGTGCGCGCCTGTAGTCCCAGCTACCCGGGAAA
TATTAGCGGGGCGTGGTGGTGCGCGCCTGTAGTCCCAGCTACCCGGGAAA
TATTAGCGGGGCGTGGTGGTGCGCGCCTGTAGTCCCAGCTACCCGGGAAA
TATTAGCGGGGCGTGGTGGTGCGCGCCTGTAGTCCCAGCTACCCGGGAAA
TATTAGCGGGGCGTGGTGGTGCGTGCCTGTAGTCCCAGCTACCCGGGAAA
TATTAGCGGGGTGTGGTGGTACA
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 619666
chr17:619666 G
G
 GTGTACCA
others(493): Show 
GTGTACCACCACACCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGC
ATGCACCACCACGCCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGC
GCGCACCACCATGCCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGC
ATGCACCACCACACCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGC
ATGCACCACCACACCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGC
GTGTACCACCACACCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGC
ATGCACCACCATGCCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGC
GTGTACCACCACACCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGC
ATGCACCACCACGCCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGC
GCACACCACCACGCCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGC
A
 10 a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
others(7): Show 
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
 10 HG02135.hp2
HG02602.hp1
NA18747.hp1
others(7): Show 
HG02135.hp2
HG02602.hp1
NA18747.hp1
NA18955.hp2
NA18960.hp2
NA18994.hp2
NA19000.hp2
NA19010.hp2
NA19087.hp1
NA19091.hp1
 intron_variant MODIFIER c.1116+3866_1116+386
others(504): Show 
c.1116+3866_1116+3867insTGCCTGTAGTCCCAGCTACCCGGGAA
ATATTAGCGGGGCGTGGTGGTGTGCGCCTGTAGTCCCAGCTACCCGGGAA
ATATTAGCGGGGCGTGGTGGTGCATGCCTGTAGTCCCAGCTACCCGGGAA
ATATTAGCGGGGTGTGGTGGTACACGCCTGTAGTCCCAGCTACCCGGGAA
ATATTAGCGGGGCATGGTGGTGCATGCCTGTAGTCCCAGCTACCCGGGAA
ATATTAGCGGGGTGTGGTGGTACACGCCTGTAGTCCCAGCTACCCGGGAA
ATATTAGCGGGGTGTGGTGGTGCATGCCTGTAGTCCCAGCTACCCGGGAA
ATATTAGCGGGGTGTGGTGGTGCATGCCTGTAGTCCCAGCTACCCGGGAA
ATATTAGCGGGGCATGGTGGTGCGCGCCTGTAGTCCCAGCTACCCGGGAA
ATATTAGCGGGGCGTGGTGGTGCATGCCTGTAGTCCCAGCTACCCGGGAA
ATATTAGCGGGGTGTGGTGGTACA
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 619666
chr17:619667 T
T
 C
C
 49 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(46): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0032g0114
a0001c0001t0034g0126
a0001c0001t0069g0012
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0098g0147
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0108g0148
a0001c0001t0110g0127
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0123g0123
a0001c0001t0128g0132
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0006c0012t0129g0140
 49 HG00423.hp2
HG00741.hp2
HG01081.hp2
others(46): Show 
HG00423.hp2
HG00741.hp2
HG01081.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp2
HG01361.hp2
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp2
HG01928.hp2
HG01978.hp2
HG02040.hp2
HG02056.hp2
HG02083.hp2
HG02109.hp2
HG02129.hp2
HG02132.hp2
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02602.hp2
HG02818.hp2
HG02895.hp1
HG03225.hp2
HG03492.hp2
HG03688.hp2
HG04184.hp2
HG04199.hp2
NA18940.hp2
NA18945.hp2
NA18950.hp1
NA18961.hp1
NA18967.hp2
NA18978.hp2
NA18983.hp2
NA18987.hp2
NA19009.hp2
NA19060.hp2
NA19065.hp2
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19079.hp2
NA19081.hp2
NA20300.hp2
 intron_variant MODIFIER c.1116+3866A>G
c.1116+3866A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 619667
chr17:619667 T
T
 TGTACCAC
others(642): Show 
TGTACCACCACACCCCACTAATATTTCCCGGGTAGCTGGGACTACAGGCA
CGCACCACCACGCCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCG
CGCACCACCACGCCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCG
CGCACCACCACGCCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCA
TGCACCACCACGCCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCA
TGCACCACCACGCCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCG
CGCACCACCATGCCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCG
TGCACCACCACACCCCGCTAATATTTTCCGGGTAGCTGGGACTACAGGCG
TGCACCACCACACCCCACTAATATTTTCCGGGTAGCTGGGACTACAGGCG
TGCACCACCACGCCTGCTTATATTTCCCGGATAGCTGGGACTACAGGCGT
GCACCACCACACCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCAT
GCACCACCACACCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCGC
GCACCACCACGCCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCGC
 1 a0001c0001t0084g0046
a0001c0001t0084g0046
 1 HG03516.hp1
HG03516.hp1
 intron_variant MODIFIER c.1116+3865_1116+386
others(653): Show 
c.1116+3865_1116+3866insGCGCCTGTAGTCCCAGCTACCCGGGA
AATATTAGCGGGGCGTGGTGGTGCGCGCCTGTAGTCCCAGCTACCCGGGA
AATATTAGCGGGGTGTGGTGGTGCATGCCTGTAGTCCCAGCTACCCGGGA
AATATTAGCGGGGTGTGGTGGTGCACGCCTGTAGTCCCAGCTATCCGGGA
AATATAAGCAGGCGTGGTGGTGCACGCCTGTAGTCCCAGCTACCCGGAAA
ATATTAGTGGGGTGTGGTGGTGCACGCCTGTAGTCCCAGCTACCCGGAAA
ATATTAGCGGGGTGTGGTGGTGCACGCCTGTAGTCCCAGCTACCCGGGAA
ATATTAGCGGGGCATGGTGGTGCGCGCCTGTAGTCCCAGCTACCCGGGAA
ATATTAGCGGGGCGTGGTGGTGCATGCCTGTAGTCCCAGCTACCCGGGAA
ATATTAGCGGGGCGTGGTGGTGCATGCCTGTAGTCCCAGCTACCCGGGAA
ATATTAGCGGGGCGTGGTGGTGCGCGCCTGTAGTCCCAGCTACCCGGGAA
ATATTAGCGGGGCGTGGTGGTGCGCGCCTGTAGTCCCAGCTACCCGGGAA
ATATTAGCGGGGCGTGGTGGTGCGTGCCTGTAGTCCCAGCTACCCGGGAA
ATATTAGTGGGGTGTGGTGGTAC
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 619667
chr17:619669 C
C
 T
T
 3 a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0002t0001g0094
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0002t0001g0094
 3 HG02602.hp2
HG03492.hp2
NA18747.hp2
HG02602.hp2
HG03492.hp2
NA18747.hp2
 intron_variant MODIFIER c.1116+3864G>A
c.1116+3864G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 619669
chr17:619670 A
A
 ACCACCAC
others(43): Show 
ACCACCACACCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCGTGC
G
 2 a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0101g0200
a0001c0001t0102g0220
 2 HG02572.hp2
HG03139.hp1
HG02572.hp2
HG03139.hp1
 intron_variant MODIFIER c.1116+3862_1116+386
others(54): Show 
c.1116+3862_1116+3863insCGCACGCCTGTAGTCCCAGCTACCCG
GGAAATATTAGCGGGGTGTGGTGG
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 619670
chr17:619678 A
A
 ACCCCGCT
others(692): Show 
ACCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCACGCACCACCAC
GCCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCGCGCACCACCAC
GCCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCGCGCACCACCAC
GCCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCGCGCACCACCAC
GCCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCATGCACCACCAC
GCCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCATGCACCACCAC
GCCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCGCGCACCACCAT
GCCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCGTGCACCACCAC
ACCCCACTAATATTTCCCGGGTAGCTGGGACTACAGGCGTGCACCACCAC
GCCTGCTTATATTTCCCGGATAGCTGGGACTACAGGCGTGCACCACCACA
CCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCATGCACCACCACA
CCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCGTGTACCACCACA
CCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCATGCACCACCACG
CCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCGCGCACCACCATG
 1 a0001c0002t0001g0094
a0001c0002t0001g0094
 1 NA18747.hp2
NA18747.hp2
 intron_variant MODIFIER c.1116+3854_1116+385
others(703): Show 
c.1116+3854_1116+3855insCATGGTGGTGCGCGCCTGTAGTCCCA
GCTACCCGGGAAATATTAGCGGGGCGTGGTGGTGCATGCCTGTAGTCCCA
GCTACCCGGGAAATATTAGCGGGGTGTGGTGGTACACGCCTGTAGTCCCA
GCTACCCGGGAAATATTAGCGGGGTGTGGTGGTGCATGCCTGTAGTCCCA
GCTACCCGGGAAATATTAGCGGGGTGTGGTGGTGCACGCCTGTAGTCCCA
GCTATCCGGGAAATATAAGCAGGCGTGGTGGTGCACGCCTGTAGTCCCAG
CTACCCGGGAAATATTAGTGGGGTGTGGTGGTGCACGCCTGTAGTCCCAG
CTACCCGGGAAATATTAGCGGGGCATGGTGGTGCGCGCCTGTAGTCCCAG
CTACCCGGGAAATATTAGCGGGGCGTGGTGGTGCATGCCTGTAGTCCCAG
CTACCCGGGAAATATTAGCGGGGCGTGGTGGTGCATGCCTGTAGTCCCAG
CTACCCGGGAAATATTAGCGGGGCGTGGTGGTGCGCGCCTGTAGTCCCAG
CTACCCGGGAAATATTAGCGGGGCGTGGTGGTGCGCGCCTGTAGTCCCAG
CTACCCGGGAAATATTAGCGGGGCGTGGTGGTGCGCGCCTGTAGTCCCAG
CTACCCGGGAAATATTAGCGGGGCGTGGTGGTGCGTGCCTGTAGTCCCAG
CTACCCGGGAAATATTAGCGGGG
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 619678
chr17:619678 A
A
 G
G
 50 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(47): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0032g0114
a0001c0001t0034g0126
a0001c0001t0069g0012
a0001c0001t0084g0046
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0098g0147
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0108g0148
a0001c0001t0110g0127
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0123g0123
a0001c0001t0128g0132
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0006c0012t0129g0140
 50 HG00423.hp2
HG00741.hp2
HG01081.hp2
others(47): Show 
HG00423.hp2
HG00741.hp2
HG01081.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp2
HG01361.hp2
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp2
HG01928.hp2
HG01978.hp2
HG02040.hp2
HG02056.hp2
HG02083.hp2
HG02109.hp2
HG02129.hp2
HG02132.hp2
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02602.hp2
HG02818.hp2
HG02895.hp1
HG03225.hp2
HG03492.hp2
HG03516.hp1
HG03688.hp2
HG04184.hp2
HG04199.hp2
NA18940.hp2
NA18945.hp2
NA18950.hp1
NA18961.hp1
NA18967.hp2
NA18978.hp2
NA18983.hp2
NA18987.hp2
NA19009.hp2
NA19060.hp2
NA19065.hp2
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19079.hp2
NA19081.hp2
NA20300.hp2
 intron_variant MODIFIER c.1116+3855T>C
c.1116+3855T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 619678
chr17:619716 G
G
 A
A
 45 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0134
others(42): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0032g0114
a0001c0001t0034g0126
a0001c0001t0069g0012
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0098g0147
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0108g0148
a0001c0001t0110g0127
a0001c0001t0113g0122
a0001c0001t0116g0138
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0123g0123
a0001c0001t0128g0132
a0001c0002t0001g0094
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
 45 HG00423.hp2
HG00741.hp2
HG01192.hp1
others(42): Show 
HG00423.hp2
HG00741.hp2
HG01192.hp1
HG01255.hp2
HG01256.hp2
HG01361.hp2
HG01884.hp2
HG02056.hp2
HG02083.hp2
HG02109.hp2
HG02129.hp2
HG02132.hp2
HG02135.hp2
HG02280.hp2
HG02602.hp1
HG02818.hp2
HG02895.hp1
HG03225.hp2
HG03688.hp2
HG04184.hp2
HG04199.hp2
NA18747.hp1
NA18747.hp2
NA18945.hp2
NA18950.hp1
NA18955.hp2
NA18960.hp2
NA18961.hp1
NA18967.hp2
NA18983.hp2
NA18987.hp2
NA18994.hp2
NA19000.hp2
NA19009.hp2
NA19010.hp2
NA19060.hp2
NA19065.hp2
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19079.hp2
NA19081.hp2
NA19087.hp1
NA19091.hp1
NA20300.hp2
 intron_variant MODIFIER c.1116+3817C>T
c.1116+3817C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 619716
chr17:619717 T
T
 C
C
 7 a0001c0001t0002g0133
a0001c0001t0002g0210
a0001c0001t0084g0046
others(4): Show 
a0001c0001t0002g0133
a0001c0001t0002g0210
a0001c0001t0084g0046
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0007t0011g0105
a0001c0007t0012g0110
 7 HG01517.hp2
HG02040.hp2
HG02300.hp2
others(4): Show 
HG01517.hp2
HG02040.hp2
HG02300.hp2
HG02602.hp2
HG03492.hp2
HG03516.hp1
NA18940.hp2
 intron_variant MODIFIER c.1116+3816A>G
c.1116+3816A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 619717
chr17:619719 T
T
 C
C
 66 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(63): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0032g0114
a0001c0001t0034g0126
a0001c0001t0069g0012
a0001c0001t0084g0046
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0098g0147
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0108g0148
a0001c0001t0110g0127
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0123g0123
a0001c0001t0128g0132
a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0002t0078g0041
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0001c0011t0051g0091
a0003c0004t0071g0037
a0006c0012t0129g0140
 66 HG00423.hp2
HG00741.hp2
HG01074.hp2
others(63): Show 
HG00423.hp2
HG00741.hp2
HG01074.hp2
HG01081.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp2
HG01361.hp2
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp2
HG01928.hp2
HG01978.hp2
HG02040.hp2
HG02056.hp2
HG02083.hp2
HG02109.hp2
HG02129.hp2
HG02132.hp2
HG02135.hp2
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02602.hp1
HG02602.hp2
HG02818.hp2
HG02895.hp1
HG03225.hp2
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03688.hp2
HG04184.hp2
HG04199.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18940.hp2
NA18945.hp2
NA18950.hp1
NA18955.hp2
NA18960.hp2
NA18961.hp1
NA18967.hp2
NA18978.hp2
NA18983.hp2
NA18984.hp2
NA18987.hp2
NA18994.hp2
NA19000.hp2
NA19009.hp2
NA19010.hp2
NA19060.hp2
NA19064.hp2
NA19065.hp2
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19079.hp2
NA19081.hp2
NA19087.hp1
NA19091.hp1
NA20300.hp2
 intron_variant MODIFIER c.1116+3814A>G
c.1116+3814A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 619719
chr17:619719 T
T
 TACCACCA
others(93): Show 
TACCACCACGCCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCATG
CACCACCACGCCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCGTG
C
 9 a0001c0002t0005g0061
a0001c0002t0007g0058
a0001c0002t0007g0062
others(6): Show 
a0001c0002t0005g0061
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0058g0052
 9 HG02135.hp1
NA18944.hp1
NA18959.hp2
others(6): Show 
HG02135.hp1
NA18944.hp1
NA18959.hp2
NA18962.hp2
NA18979.hp1
NA19007.hp1
NA19009.hp1
NA19065.hp1
NA19090.hp1
 intron_variant MODIFIER c.1116+3813_1116+381
others(104): Show 
c.1116+3813_1116+3814insGCACGCCTGTAGTCCCAGCTACCCGG
GAAATATTAGCGGGGCGTGGTGGTGCATGCCTGTAGTCCCAGCTACCCGG
GAAATATTAGCGGGGCGTGGTGGT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 619719
chr17:619728 A
A
 ACCCCGCT
others(93): Show 
ACCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCATGCACCACCAC
GCCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCGTGCACCACCAC
G
 43 a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
others(40): Show 
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0005g0065
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0055g0084
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0016t0052g0099
a0002c0003t0073g0068
 43 HG00099.hp2
HG00140.hp2
HG00280.hp1
others(40): Show 
HG00099.hp2
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00621.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01099.hp2
HG01106.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01361.hp1
HG01496.hp1
HG01515.hp2
HG01978.hp1
HG01981.hp2
HG02738.hp1
HG02886.hp1
HG03491.hp1
HG03492.hp1
HG03688.hp1
HG04204.hp2
NA18906.hp2
NA18940.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18960.hp1
NA18967.hp1
NA18973.hp1
NA18977.hp2
NA19070.hp1
NA19079.hp1
NA19084.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1116+3804_1116+380
others(104): Show 
c.1116+3804_1116+3805insCGTGGTGGTGCACGCCTGTAGTCCCA
GCTACCCGGGAAATATTAGCGGGGCGTGGTGGTGCATGCCTGTAGTCCCA
GCTACCCGGGAAATATTAGCGGGG
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 619728
chr17:619728 A
A
 G
G
 73 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(70): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0032g0114
a0001c0001t0034g0126
a0001c0001t0069g0012
a0001c0001t0084g0046
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0098g0147
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0108g0148
a0001c0001t0110g0127
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0123g0123
a0001c0001t0128g0132
a0001c0002t0005g0061
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0058g0052
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0002t0078g0041
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0001c0011t0051g0091
a0006c0012t0129g0140
 73 HG00423.hp2
HG00741.hp2
HG01074.hp2
others(70): Show 
HG00423.hp2
HG00741.hp2
HG01074.hp2
HG01081.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp2
HG01361.hp2
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp2
HG01928.hp2
HG01978.hp2
HG02040.hp2
HG02056.hp2
HG02083.hp2
HG02109.hp2
HG02129.hp2
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02602.hp1
HG02602.hp2
HG02818.hp2
HG02895.hp1
HG03225.hp2
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03688.hp2
HG04184.hp2
HG04199.hp2
NA18747.hp1
NA18940.hp2
NA18944.hp1
NA18945.hp2
NA18950.hp1
NA18955.hp2
NA18959.hp2
NA18960.hp2
NA18961.hp1
NA18962.hp2
NA18967.hp2
NA18978.hp2
NA18979.hp1
NA18983.hp2
NA18984.hp2
NA18987.hp2
NA18994.hp2
NA19000.hp2
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19060.hp2
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19079.hp2
NA19081.hp2
NA19087.hp1
NA19090.hp1
NA19091.hp1
NA20300.hp2
 intron_variant MODIFIER c.1116+3805T>C
c.1116+3805T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 619728
chr17:619766 G
G
 A
A
 104 a0001c0001t0017g0158
a0001c0001t0028g0196
a0001c0001t0028g0197
others(101): Show 
a0001c0001t0017g0158
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0032g0204
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0034g0162
a0001c0001t0084g0046
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0097g0199
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0105g0201
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0122g0160
a0001c0001t0127g0159
a0001c0001t0134g0154
a0001c0001t0138g0161
a0001c0001t0141g0165
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0014t0135g0166
a0001c0015t0126g0149
a0001c0016t0052g0099
a0002c0003t0073g0068
a0002c0010t0038g0156
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0007c0013t0132g0163
 104 HG00099.hp2
HG00140.hp2
HG00280.hp1
others(101): Show 
HG00099.hp2
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00621.hp2
HG00741.hp1
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01255.hp1
HG01256.hp1
HG01257.hp1
HG01258.hp1
HG01258.hp2
HG01361.hp1
HG01496.hp1
HG01515.hp2
HG01884.hp1
HG01891.hp1
HG01891.hp2
HG01978.hp1
HG01981.hp2
HG02074.hp1
HG02135.hp1
HG02572.hp1
HG02572.hp2
HG02622.hp1
HG02622.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03491.hp1
HG03492.hp1
HG03516.hp1
HG03688.hp1
HG03831.hp2
HG04204.hp1
NA18612.hp2
NA18906.hp2
NA18940.hp1
NA18944.hp1
NA18945.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp2
NA18957.hp1
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18967.hp1
NA18973.hp1
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18979.hp1
NA18984.hp1
NA18986.hp2
NA18990.hp1
NA18994.hp1
NA19007.hp1
NA19009.hp1
NA19011.hp2
NA19060.hp1
NA19064.hp1
NA19065.hp1
NA19068.hp1
NA19070.hp1
NA19079.hp1
NA19080.hp1
NA19081.hp1
NA19084.hp1
NA19087.hp2
NA19090.hp1
NA19091.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20805.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1116+3767C>T
c.1116+3767C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 619766
chr17:619767 T
T
 C
C
 2 a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0114g0142
a0001c0001t0115g0136
 2 HG02602.hp2
HG03492.hp2
HG02602.hp2
HG03492.hp2
 intron_variant MODIFIER c.1116+3766A>G
c.1116+3766A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 619767
chr17:619769 C
C
 CACCACCA
others(93): Show 
CACCACCACGCCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCGTG
CACCACCACGCCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCATG
T
 1 a0001c0002t0003g0072
a0001c0002t0003g0072
 1 HG01081.hp1
HG01081.hp1
 intron_variant MODIFIER c.1116+3763_1116+376
others(104): Show 
c.1116+3763_1116+3764insACATGCCTGTAGTCCCAGCTACCCGG
GAAATATTAGCGGGGCGTGGTGGTGCACGCCTGTAGTCCCAGCTACCCGG
GAAATATTAGCGGGGCGTGGTGGT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 619769
chr17:619820 A
A
 G
G
 3 a0001c0001t0084g0046
a0001c0001t0108g0148
a0001c0002t0078g0041
a0001c0001t0084g0046
a0001c0001t0108g0148
a0001c0002t0078g0041
 3 HG01192.hp1
HG03516.hp1
HG03516.hp2
HG01192.hp1
HG03516.hp1
HG03516.hp2
 intron_variant MODIFIER c.1116+3713T>C
c.1116+3713T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 619820
chr17:619837 A
A
 G
G
 1 a0001c0002t0078g0041
a0001c0002t0078g0041
 1 HG03516.hp2
HG03516.hp2
 intron_variant MODIFIER c.1116+3696T>C
c.1116+3696T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 619837
chr17:619870 A
A
 G
G
 62 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(59): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0032g0114
a0001c0001t0034g0126
a0001c0001t0069g0012
a0001c0001t0084g0046
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0098g0147
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0108g0148
a0001c0001t0110g0127
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0123g0123
a0001c0001t0128g0132
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0002t0078g0041
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0001c0011t0051g0091
a0006c0012t0129g0140
 62 HG00423.hp2
HG00741.hp2
HG01074.hp2
others(59): Show 
HG00423.hp2
HG00741.hp2
HG01074.hp2
HG01081.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp2
HG01361.hp2
HG01496.hp2
HG01515.hp1
HG01884.hp2
HG01928.hp2
HG01978.hp2
HG02040.hp2
HG02056.hp2
HG02083.hp2
HG02109.hp2
HG02129.hp2
HG02132.hp2
HG02135.hp2
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02602.hp1
HG02602.hp2
HG02818.hp2
HG02895.hp1
HG03225.hp2
HG03516.hp1
HG03516.hp2
HG03688.hp2
HG04184.hp2
HG04199.hp2
NA18747.hp1
NA18940.hp2
NA18945.hp2
NA18950.hp1
NA18955.hp2
NA18960.hp2
NA18961.hp1
NA18967.hp2
NA18978.hp2
NA18983.hp2
NA18984.hp2
NA18987.hp2
NA18994.hp2
NA19000.hp2
NA19009.hp2
NA19010.hp2
NA19060.hp2
NA19064.hp2
NA19065.hp2
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19079.hp2
NA19081.hp2
NA19087.hp1
NA19091.hp1
NA20300.hp2
 intron_variant MODIFIER c.1116+3663T>C
c.1116+3663T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 619870
chr17:619902 A
A
 C
C
 65 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(62): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0032g0114
a0001c0001t0034g0126
a0001c0001t0069g0012
a0001c0001t0084g0046
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0098g0147
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0108g0148
a0001c0001t0110g0127
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0123g0123
a0001c0001t0128g0132
a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0002t0078g0041
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0001c0011t0051g0091
a0006c0012t0129g0140
 65 HG00423.hp2
HG00741.hp2
HG01074.hp2
others(62): Show 
HG00423.hp2
HG00741.hp2
HG01074.hp2
HG01081.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp2
HG01361.hp2
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp2
HG01928.hp2
HG01978.hp2
HG02040.hp2
HG02056.hp2
HG02083.hp2
HG02109.hp2
HG02129.hp2
HG02132.hp2
HG02135.hp2
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02602.hp1
HG02602.hp2
HG02818.hp2
HG02895.hp1
HG03225.hp2
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03688.hp2
HG04184.hp2
HG04199.hp2
NA18747.hp1
NA18747.hp2
NA18940.hp2
NA18945.hp2
NA18950.hp1
NA18955.hp2
NA18960.hp2
NA18961.hp1
NA18967.hp2
NA18978.hp2
NA18983.hp2
NA18984.hp2
NA18987.hp2
NA18994.hp2
NA19000.hp2
NA19009.hp2
NA19010.hp2
NA19060.hp2
NA19064.hp2
NA19065.hp2
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19079.hp2
NA19081.hp2
NA19087.hp1
NA19091.hp1
NA20300.hp2
 intron_variant MODIFIER c.1116+3631T>G
c.1116+3631T>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 619902
chr17:619913 G
G
 A
A
 1 a0002c0003t0139g0167
a0002c0003t0139g0167
 1 NA18983.hp1
NA18983.hp1
 intron_variant MODIFIER c.1116+3620C>T
c.1116+3620C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 619913
chr17:619916 G
G
 A
A
 52 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(49): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0032g0114
a0001c0001t0034g0126
a0001c0001t0069g0012
a0001c0001t0084g0046
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0098g0147
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0108g0148
a0001c0001t0110g0127
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0123g0123
a0001c0001t0128g0132
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0002t0078g0041
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0001c0011t0051g0091
a0006c0012t0129g0140
 52 HG00423.hp2
HG00741.hp2
HG01074.hp2
others(49): Show 
HG00423.hp2
HG00741.hp2
HG01074.hp2
HG01081.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp2
HG01361.hp2
HG01496.hp2
HG01515.hp1
HG01884.hp2
HG01928.hp2
HG01978.hp2
HG02040.hp2
HG02056.hp2
HG02083.hp2
HG02109.hp2
HG02129.hp2
HG02132.hp2
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02602.hp2
HG02818.hp2
HG02895.hp1
HG03225.hp2
HG03516.hp1
HG03516.hp2
HG03688.hp2
HG04184.hp2
HG04199.hp2
NA18940.hp2
NA18945.hp2
NA18950.hp1
NA18961.hp1
NA18967.hp2
NA18978.hp2
NA18983.hp2
NA18984.hp2
NA18987.hp2
NA19009.hp2
NA19060.hp2
NA19064.hp2
NA19065.hp2
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19079.hp2
NA19081.hp2
NA20300.hp2
 intron_variant MODIFIER c.1116+3617C>T
c.1116+3617C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 619916
chr17:619916 G
G
 GTGCACCA
others(93): Show 
GTGCACCACCACGCCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGC
GTGCGCCACCACGCCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGC
A
 1 a0001c0001t0115g0136
a0001c0001t0115g0136
 1 HG03492.hp2
HG03492.hp2
 intron_variant MODIFIER c.1116+3616_1116+361
others(104): Show 
c.1116+3616_1116+3617insTGCCTGTAGTCCCAGCTACCCGGGAA
ATATTAGCGGGGCGTGGTGGCGCACGCCTGTAGTCCCAGCTACCCGGGAA
ATATTAGCGGGGCGTGGTGGTGCA
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 619916
chr17:619920 G
G
 A
A
 63 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(60): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0032g0114
a0001c0001t0034g0126
a0001c0001t0069g0012
a0001c0001t0084g0046
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0098g0147
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0108g0148
a0001c0001t0110g0127
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0123g0123
a0001c0001t0128g0132
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0002t0078g0041
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0001c0011t0051g0091
a0006c0012t0129g0140
 63 HG00423.hp2
HG00741.hp2
HG01074.hp2
others(60): Show 
HG00423.hp2
HG00741.hp2
HG01074.hp2
HG01081.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp2
HG01361.hp2
HG01496.hp2
HG01515.hp1
HG01884.hp2
HG01928.hp2
HG01978.hp2
HG02040.hp2
HG02056.hp2
HG02083.hp2
HG02109.hp2
HG02129.hp2
HG02132.hp2
HG02135.hp2
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02602.hp1
HG02602.hp2
HG02818.hp2
HG02895.hp1
HG03225.hp2
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03688.hp2
HG04184.hp2
HG04199.hp2
NA18747.hp1
NA18940.hp2
NA18945.hp2
NA18950.hp1
NA18955.hp2
NA18960.hp2
NA18961.hp1
NA18967.hp2
NA18978.hp2
NA18983.hp2
NA18984.hp2
NA18987.hp2
NA18994.hp2
NA19000.hp2
NA19009.hp2
NA19010.hp2
NA19060.hp2
NA19064.hp2
NA19065.hp2
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19079.hp2
NA19081.hp2
NA19087.hp1
NA19091.hp1
NA20300.hp2
 intron_variant MODIFIER c.1116+3613C>T
c.1116+3613C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 619920
chr17:619920 G
G
 GCCACCAC
others(43): Show 
GCCACCACGCCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCATGC
A
 2 a0001c0002t0001g0094
a0001c0007t0011g0105
a0001c0002t0001g0094
a0001c0007t0011g0105
 2 HG01517.hp2
NA18747.hp2
HG01517.hp2
NA18747.hp2
 intron_variant MODIFIER c.1116+3612_1116+361
others(54): Show 
c.1116+3612_1116+3613insTGCATGCCTGTAGTCCCAGCTACCCG
GGAAATATTAGCGGGGCGTGGTGG
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 619920
chr17:619937 G
G
 A
A
 65 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(62): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0032g0114
a0001c0001t0034g0126
a0001c0001t0069g0012
a0001c0001t0084g0046
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0098g0147
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0108g0148
a0001c0001t0110g0127
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0123g0123
a0001c0001t0128g0132
a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0002t0078g0041
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0001c0011t0051g0091
a0006c0012t0129g0140
 65 HG00423.hp2
HG00741.hp2
HG01074.hp2
others(62): Show 
HG00423.hp2
HG00741.hp2
HG01074.hp2
HG01081.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp2
HG01361.hp2
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp2
HG01928.hp2
HG01978.hp2
HG02040.hp2
HG02056.hp2
HG02083.hp2
HG02109.hp2
HG02129.hp2
HG02132.hp2
HG02135.hp2
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02602.hp1
HG02602.hp2
HG02818.hp2
HG02895.hp1
HG03225.hp2
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03688.hp2
HG04184.hp2
HG04199.hp2
NA18747.hp1
NA18747.hp2
NA18940.hp2
NA18945.hp2
NA18950.hp1
NA18955.hp2
NA18960.hp2
NA18961.hp1
NA18967.hp2
NA18978.hp2
NA18983.hp2
NA18984.hp2
NA18987.hp2
NA18994.hp2
NA19000.hp2
NA19009.hp2
NA19010.hp2
NA19060.hp2
NA19064.hp2
NA19065.hp2
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19079.hp2
NA19081.hp2
NA19087.hp1
NA19091.hp1
NA20300.hp2
 intron_variant MODIFIER c.1116+3596C>T
c.1116+3596C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 619937
chr17:619945 C
C
 T
T
 13 a0001c0001t0017g0158
a0001c0001t0032g0204
a0001c0001t0033g0205
others(10): Show 
a0001c0001t0017g0158
a0001c0001t0032g0204
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0034g0162
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0122g0160
a0001c0001t0127g0159
a0001c0001t0138g0161
a0001c0001t0141g0165
a0002c0010t0038g0156
a0007c0013t0132g0163
 13 HG00741.hp1
HG01106.hp2
HG01109.hp1
others(10): Show 
HG00741.hp1
HG01106.hp2
HG01109.hp1
HG01257.hp1
HG01258.hp2
HG01891.hp1
HG02886.hp2
HG02895.hp2
HG02922.hp1
HG03225.hp1
HG04204.hp1
NA20129.hp1
NA21309.hp1
 intron_variant MODIFIER c.1116+3588G>A
c.1116+3588G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 619945
chr17:620010 T
T
 A
A
 1 a0001c0002t0078g0041
a0001c0002t0078g0041
 1 HG03516.hp2
HG03516.hp2
 intron_variant MODIFIER c.1116+3523A>T
c.1116+3523A>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 620010
chr17:620133 GAA
GAA
 G
G
 6 a0002c0003t0018g0214
a0002c0003t0148g0174
a0004c0008t0036g0207
others(3): Show 
a0002c0003t0018g0214
a0002c0003t0148g0174
a0004c0008t0036g0207
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
 6 HG00423.hp1
HG00621.hp1
NA18946.hp1
others(3): Show 
HG00423.hp1
HG00621.hp1
NA18946.hp1
NA18955.hp1
NA18979.hp2
NA19066.hp2
 intron_variant MODIFIER c.1116+3398_1116+339
others(6): Show 
c.1116+3398_1116+3399delTT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 620133
chr17:620227 G
G
 T
T
 4 a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
others(1): Show 
a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0011t0051g0091
 4 HG01074.hp2
NA18747.hp2
NA18984.hp2
others(1): Show 
HG01074.hp2
NA18747.hp2
NA18984.hp2
NA19064.hp2
 intron_variant MODIFIER c.1116+3306C>A
c.1116+3306C>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 620227
chr17:620275 C
C
 T
T
 1 a0002c0003t0144g0215
a0002c0003t0144g0215
 1 HG02738.hp2
HG02738.hp2
 intron_variant MODIFIER c.1116+3258G>A
c.1116+3258G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 620275
chr17:620386 A
A
 C
C
 4 a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0141
others(1): Show 
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0141
a0001c0001t0002g0210
 4 HG02040.hp2
HG02083.hp2
NA18940.hp2
others(1): Show 
HG02040.hp2
HG02083.hp2
NA18940.hp2
NA19074.hp2
 intron_variant MODIFIER c.1116+3147T>G
c.1116+3147T>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 620386
chr17:620524 T
T
 G
G
 1 a0003c0004t0004g0014
a0003c0004t0004g0014
 1 NA18957.hp1
NA18957.hp1
 intron_variant MODIFIER c.1116+3009A>C
c.1116+3009A>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 620524
chr17:620567 T
T
 C
C
 231 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(228): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0017g0158
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0032g0114
a0001c0001t0032g0204
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0034g0126
a0001c0001t0034g0162
a0001c0001t0069g0012
a0001c0001t0084g0046
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0097g0199
a0001c0001t0098g0147
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0105g0201
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0108g0148
a0001c0001t0110g0127
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0118g0195
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0122g0160
a0001c0001t0123g0123
a0001c0001t0127g0159
a0001c0001t0128g0132
a0001c0001t0134g0154
a0001c0001t0138g0161
a0001c0001t0141g0165
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0001g0094
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0017g0225
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0035g0219
a0001c0002t0038g0224
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0049g0048
a0001c0002t0050g0049
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0065g0093
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0077g0095
a0001c0002t0078g0041
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0002t0086g0221
a0001c0002t0100g0223
a0001c0002t0109g0222
a0001c0002t0125g0116
a0001c0002t0143g0226
a0001c0002t0149g0202
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0001c0011t0051g0091
a0001c0014t0135g0166
a0001c0015t0126g0149
a0001c0016t0052g0099
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0017g0179
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0018g0231
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0073g0068
a0002c0003t0085g0184
a0002c0003t0089g0175
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0099g0192
a0002c0003t0104g0208
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0145g0187
a0002c0003t0146g0170
a0002c0003t0148g0174
a0002c0003t0150g0191
a0002c0010t0038g0156
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
a0004c0008t0035g0203
a0004c0008t0036g0207
a0004c0008t0103g0227
a0004c0008t0124g0229
a0004c0008t0133g0232
a0004c0008t0142g0228
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
a0006c0012t0129g0140
a0007c0013t0132g0163
 231 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(228): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00621.hp1
HG00621.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02056.hp1
HG02056.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18955.hp1
NA18955.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18967.hp1
NA18967.hp2
NA18973.hp1
NA18973.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18990.hp1
NA18990.hp2
NA18994.hp1
NA18994.hp2
NA19000.hp1
NA19000.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19087.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1116+2966A>G
c.1116+2966A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 620567
chr17:620678 A
A
 AT
AT
 84 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(81): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0032g0114
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0034g0126
a0001c0001t0069g0012
a0001c0001t0084g0046
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0098g0147
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0108g0148
a0001c0001t0110g0127
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0123g0123
a0001c0001t0127g0159
a0001c0001t0128g0132
a0001c0002t0001g0090
a0001c0002t0014g0077
a0001c0002t0078g0041
a0001c0005t0042g0044
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0003c0004t0003g0015
a0003c0004t0003g0036
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0081g0035
a0006c0012t0129g0140
 84 HG00423.hp2
HG00741.hp2
HG01081.hp2
others(81): Show 
HG00423.hp2
HG00741.hp2
HG01081.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp2
HG01361.hp2
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp2
HG01891.hp1
HG01928.hp2
HG01978.hp2
HG02040.hp2
HG02056.hp2
HG02074.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02132.hp2
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02602.hp2
HG02738.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG03225.hp1
HG03225.hp2
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03688.hp2
HG03831.hp2
HG04184.hp2
HG04199.hp2
NA18612.hp2
NA18940.hp2
NA18945.hp1
NA18945.hp2
NA18950.hp1
NA18950.hp2
NA18957.hp1
NA18959.hp1
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18967.hp1
NA18967.hp2
NA18978.hp1
NA18978.hp2
NA18983.hp2
NA18984.hp1
NA18986.hp2
NA18987.hp2
NA18990.hp1
NA18994.hp1
NA19000.hp2
NA19009.hp2
NA19011.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19065.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19079.hp2
NA19080.hp1
NA19081.hp1
NA19081.hp2
NA19087.hp2
NA19091.hp2
NA20129.hp1
NA20300.hp2
NA21309.hp2
 intron_variant MODIFIER c.1116+2854dupA
c.1116+2854dupA
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 620678
chr17:620678 AT
AT
 A
A
 5 a0001c0002t0001g0080
a0001c0002t0007g0063
a0002c0003t0017g0179
others(2): Show 
a0001c0002t0001g0080
a0001c0002t0007g0063
a0002c0003t0017g0179
a0002c0003t0093g0173
a0007c0013t0132g0163
 5 HG00323.hp1
HG01167.hp1
HG04204.hp1
others(2): Show 
HG00323.hp1
HG01167.hp1
HG04204.hp1
NA18957.hp2
NA18962.hp2
 intron_variant MODIFIER c.1116+2854delA
c.1116+2854delA
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 620678
chr17:620904 G
G
 A
A
 1 a0001c0002t0038g0224
a0001c0002t0038g0224
 1 HG01346.hp1
HG01346.hp1
 intron_variant MODIFIER c.1116+2629C>T
c.1116+2629C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 620904
chr17:620904 G
G
 C
C
 1 a0001c0001t0032g0114
a0001c0001t0032g0114
 1 HG02895.hp1
HG02895.hp1
 intron_variant MODIFIER c.1116+2629C>G
c.1116+2629C>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 620904
chr17:621010 A
A
 G
G
 50 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(47): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0032g0114
a0001c0001t0034g0126
a0001c0001t0069g0012
a0001c0001t0084g0046
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0098g0147
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0108g0148
a0001c0001t0110g0127
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0123g0123
a0001c0001t0128g0132
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0006c0012t0129g0140
 50 HG00423.hp2
HG00741.hp2
HG01081.hp2
others(47): Show 
HG00423.hp2
HG00741.hp2
HG01081.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp2
HG01361.hp2
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp2
HG01928.hp2
HG01978.hp2
HG02040.hp2
HG02056.hp2
HG02083.hp2
HG02109.hp2
HG02129.hp2
HG02132.hp2
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02602.hp2
HG02818.hp2
HG02895.hp1
HG03225.hp2
HG03492.hp2
HG03516.hp1
HG03688.hp2
HG04184.hp2
HG04199.hp2
NA18940.hp2
NA18945.hp2
NA18950.hp1
NA18961.hp1
NA18967.hp2
NA18978.hp2
NA18983.hp2
NA18987.hp2
NA19009.hp2
NA19060.hp2
NA19065.hp2
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19079.hp2
NA19081.hp2
NA20300.hp2
 intron_variant MODIFIER c.1116+2523T>C
c.1116+2523T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 621010
chr17:621057 C
C
 T
T
 30 a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
others(27): Show 
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
 30 HG01257.hp2
HG01516.hp2
HG01517.hp1
others(27): Show 
HG01257.hp2
HG01516.hp2
HG01517.hp1
HG02074.hp1
HG02109.hp1
HG03831.hp2
NA18612.hp2
NA18906.hp1
NA18945.hp1
NA18950.hp2
NA18957.hp1
NA18959.hp1
NA18961.hp2
NA18962.hp1
NA18977.hp1
NA18978.hp1
NA18984.hp1
NA18986.hp2
NA18990.hp1
NA18994.hp1
NA19011.hp2
NA19060.hp1
NA19064.hp1
NA19068.hp1
NA19080.hp1
NA19081.hp1
NA19087.hp2
NA19091.hp2
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.1116+2476G>A
c.1116+2476G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 621057
chr17:621086 G
G
 A
A
 14 a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
others(11): Show 
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0097g0199
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0105g0201
a0001c0001t0118g0195
a0001c0001t0134g0154
 14 HG01109.hp2
HG01346.hp2
HG01884.hp1
others(11): Show 
HG01109.hp2
HG01346.hp2
HG01884.hp1
HG01891.hp2
HG02572.hp2
HG02622.hp1
HG02622.hp2
HG02723.hp2
HG02818.hp1
HG02922.hp2
HG03139.hp1
HG03139.hp2
NA20129.hp2
NA20300.hp1
 intron_variant MODIFIER c.1116+2447C>T
c.1116+2447C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 621086
chr17:621151 C
C
 T
T
 53 a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
others(50): Show 
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0016t0052g0099
a0002c0003t0073g0068
 53 HG00099.hp2
HG00140.hp2
HG00280.hp1
others(50): Show 
HG00099.hp2
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00621.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01099.hp2
HG01106.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01361.hp1
HG01496.hp1
HG01515.hp2
HG01978.hp1
HG01981.hp2
HG02135.hp1
HG02738.hp1
HG02886.hp1
HG03491.hp1
HG03492.hp1
HG03688.hp1
HG04204.hp2
NA18906.hp2
NA18940.hp1
NA18944.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18959.hp2
NA18960.hp1
NA18962.hp2
NA18967.hp1
NA18973.hp1
NA18977.hp2
NA18979.hp1
NA19007.hp1
NA19009.hp1
NA19065.hp1
NA19070.hp1
NA19079.hp1
NA19084.hp1
NA19090.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1116+2382G>A
c.1116+2382G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 621151
chr17:621251 G
G
 A
A
 1 a0001c0001t0032g0114
a0001c0001t0032g0114
 1 HG02895.hp1
HG02895.hp1
 intron_variant MODIFIER c.1116+2282C>T
c.1116+2282C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 621251
chr17:621458 T
T
 C
C
 1 a0004c0008t0036g0207
a0004c0008t0036g0207
 1 HG00423.hp1
HG00423.hp1
 intron_variant MODIFIER c.1116+2075A>G
c.1116+2075A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 621458
chr17:621519 C
C
 A
A
 1 a0001c0007t0023g0107
a0001c0007t0023g0107
 1 HG01928.hp2
HG01928.hp2
 intron_variant MODIFIER c.1116+2014G>T
c.1116+2014G>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 621519
chr17:621760 G
G
 A
A
 14 a0001c0002t0017g0225
a0001c0002t0035g0219
a0001c0002t0038g0224
others(11): Show 
a0001c0002t0017g0225
a0001c0002t0035g0219
a0001c0002t0038g0224
a0001c0002t0086g0221
a0001c0002t0100g0223
a0001c0002t0109g0222
a0001c0002t0125g0116
a0001c0002t0143g0226
a0001c0002t0149g0202
a0004c0008t0035g0203
a0004c0008t0103g0227
a0004c0008t0124g0229
a0004c0008t0133g0232
a0004c0008t0142g0228
 14 HG00099.hp1
HG00140.hp1
HG00438.hp1
others(11): Show 
HG00099.hp1
HG00140.hp1
HG00438.hp1
HG01346.hp1
HG01516.hp1
HG02145.hp1
HG03942.hp2
HG04184.hp1
NA18944.hp2
NA18973.hp2
NA18990.hp2
NA19007.hp2
NA19011.hp1
NA19066.hp1
 intron_variant MODIFIER c.1116+1773C>T
c.1116+1773C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 621760
chr17:621820 T
T
 C
C
 49 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(46): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0032g0114
a0001c0001t0034g0126
a0001c0001t0069g0012
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0098g0147
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0108g0148
a0001c0001t0110g0127
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0123g0123
a0001c0001t0128g0132
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0006c0012t0129g0140
 49 HG00423.hp2
HG00741.hp2
HG01081.hp2
others(46): Show 
HG00423.hp2
HG00741.hp2
HG01081.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp2
HG01361.hp2
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp2
HG01928.hp2
HG01978.hp2
HG02040.hp2
HG02056.hp2
HG02083.hp2
HG02109.hp2
HG02129.hp2
HG02132.hp2
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02602.hp2
HG02818.hp2
HG02895.hp1
HG03225.hp2
HG03492.hp2
HG03688.hp2
HG04184.hp2
HG04199.hp2
NA18940.hp2
NA18945.hp2
NA18950.hp1
NA18961.hp1
NA18967.hp2
NA18978.hp2
NA18983.hp2
NA18987.hp2
NA19009.hp2
NA19060.hp2
NA19065.hp2
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19079.hp2
NA19081.hp2
NA20300.hp2
 intron_variant MODIFIER c.1116+1713A>G
c.1116+1713A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 621820
chr17:621877 C
C
 T
T
 14 a0001c0002t0017g0225
a0001c0002t0035g0219
a0001c0002t0038g0224
others(11): Show 
a0001c0002t0017g0225
a0001c0002t0035g0219
a0001c0002t0038g0224
a0001c0002t0086g0221
a0001c0002t0100g0223
a0001c0002t0109g0222
a0001c0002t0125g0116
a0001c0002t0143g0226
a0001c0002t0149g0202
a0004c0008t0035g0203
a0004c0008t0103g0227
a0004c0008t0124g0229
a0004c0008t0133g0232
a0004c0008t0142g0228
 14 HG00099.hp1
HG00140.hp1
HG00438.hp1
others(11): Show 
HG00099.hp1
HG00140.hp1
HG00438.hp1
HG01346.hp1
HG01516.hp1
HG02145.hp1
HG03942.hp2
HG04184.hp1
NA18944.hp2
NA18973.hp2
NA18990.hp2
NA19007.hp2
NA19011.hp1
NA19066.hp1
 intron_variant MODIFIER c.1116+1656G>A
c.1116+1656G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 621877
chr17:621895 T
T
 C
C
 49 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(46): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0032g0114
a0001c0001t0034g0126
a0001c0001t0069g0012
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0098g0147
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0108g0148
a0001c0001t0110g0127
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0123g0123
a0001c0001t0128g0132
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0006c0012t0129g0140
 49 HG00423.hp2
HG00741.hp2
HG01081.hp2
others(46): Show 
HG00423.hp2
HG00741.hp2
HG01081.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp2
HG01361.hp2
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp2
HG01928.hp2
HG01978.hp2
HG02040.hp2
HG02056.hp2
HG02083.hp2
HG02109.hp2
HG02129.hp2
HG02132.hp2
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02602.hp2
HG02818.hp2
HG02895.hp1
HG03225.hp2
HG03492.hp2
HG03688.hp2
HG04184.hp2
HG04199.hp2
NA18940.hp2
NA18945.hp2
NA18950.hp1
NA18961.hp1
NA18967.hp2
NA18978.hp2
NA18983.hp2
NA18987.hp2
NA19009.hp2
NA19060.hp2
NA19065.hp2
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19079.hp2
NA19081.hp2
NA20300.hp2
 intron_variant MODIFIER c.1116+1638A>G
c.1116+1638A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 621895
chr17:621968 T
T
 C
C
 53 a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
others(50): Show 
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0016t0052g0099
a0002c0003t0073g0068
 53 HG00099.hp2
HG00140.hp2
HG00280.hp1
others(50): Show 
HG00099.hp2
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00621.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01099.hp2
HG01106.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01361.hp1
HG01496.hp1
HG01515.hp2
HG01978.hp1
HG01981.hp2
HG02135.hp1
HG02738.hp1
HG02886.hp1
HG03491.hp1
HG03492.hp1
HG03688.hp1
HG04204.hp2
NA18906.hp2
NA18940.hp1
NA18944.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18959.hp2
NA18960.hp1
NA18962.hp2
NA18967.hp1
NA18973.hp1
NA18977.hp2
NA18979.hp1
NA19007.hp1
NA19009.hp1
NA19065.hp1
NA19070.hp1
NA19079.hp1
NA19084.hp1
NA19090.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1116+1565A>G
c.1116+1565A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 621968
chr17:622084 C
C
 T
T
 1 a0001c0002t0086g0221
a0001c0002t0086g0221
 1 HG02145.hp1
HG02145.hp1
 intron_variant MODIFIER c.1116+1449G>A
c.1116+1449G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 622084
chr17:622102 C
C
 T
T
 53 a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
others(50): Show 
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0016t0052g0099
a0002c0003t0073g0068
 53 HG00099.hp2
HG00140.hp2
HG00280.hp1
others(50): Show 
HG00099.hp2
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00621.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01099.hp2
HG01106.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01361.hp1
HG01496.hp1
HG01515.hp2
HG01978.hp1
HG01981.hp2
HG02135.hp1
HG02738.hp1
HG02886.hp1
HG03491.hp1
HG03492.hp1
HG03688.hp1
HG04204.hp2
NA18906.hp2
NA18940.hp1
NA18944.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18959.hp2
NA18960.hp1
NA18962.hp2
NA18967.hp1
NA18973.hp1
NA18977.hp2
NA18979.hp1
NA19007.hp1
NA19009.hp1
NA19065.hp1
NA19070.hp1
NA19079.hp1
NA19084.hp1
NA19090.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1116+1431G>A
c.1116+1431G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 622102
chr17:622205 T
T
 G
G
 30 a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
others(27): Show 
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
 30 HG01257.hp2
HG01516.hp2
HG01517.hp1
others(27): Show 
HG01257.hp2
HG01516.hp2
HG01517.hp1
HG02074.hp1
HG02109.hp1
HG03831.hp2
NA18612.hp2
NA18906.hp1
NA18945.hp1
NA18950.hp2
NA18957.hp1
NA18959.hp1
NA18961.hp2
NA18962.hp1
NA18977.hp1
NA18978.hp1
NA18984.hp1
NA18986.hp2
NA18990.hp1
NA18994.hp1
NA19011.hp2
NA19060.hp1
NA19064.hp1
NA19068.hp1
NA19080.hp1
NA19081.hp1
NA19087.hp2
NA19091.hp2
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.1116+1328A>C
c.1116+1328A>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 622205
chr17:622311 T
T
 C
C
 1 a0001c0006t0057g0103
a0001c0006t0057g0103
 1 HG00280.hp2
HG00280.hp2
 intron_variant MODIFIER c.1116+1222A>G
c.1116+1222A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 622311
chr17:622388 TA
TA
 T
T
 146 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(143): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0032g0114
a0001c0001t0034g0126
a0001c0001t0069g0012
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0098g0147
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0108g0148
a0001c0001t0110g0127
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0123g0123
a0001c0001t0128g0132
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0001g0094
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0065g0093
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0077g0095
a0001c0002t0078g0041
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0001c0011t0051g0091
a0001c0016t0052g0099
a0002c0003t0073g0068
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
a0006c0012t0129g0140
 146 HG00099.hp2
HG00140.hp2
HG00280.hp1
others(143): Show 
HG00099.hp2
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00423.hp2
HG00621.hp2
HG00741.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01106.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01361.hp1
HG01361.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp2
HG01928.hp2
HG01978.hp2
HG01981.hp2
HG02040.hp2
HG02056.hp2
HG02074.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02602.hp1
HG02602.hp2
HG02738.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG03225.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03516.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp2
HG04184.hp2
HG04199.hp2
HG04204.hp2
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18944.hp1
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18955.hp2
NA18957.hp1
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18967.hp1
NA18967.hp2
NA18973.hp1
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18986.hp2
NA18987.hp2
NA18990.hp1
NA18994.hp1
NA18994.hp2
NA19000.hp2
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19011.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19081.hp1
NA19081.hp2
NA19084.hp1
NA19087.hp1
NA19087.hp2
NA19090.hp1
NA19091.hp1
NA19091.hp2
NA20300.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1116+1144delT
c.1116+1144delT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 622388
chr17:622697 A
A
 C
C
 53 a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
others(50): Show 
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0016t0052g0099
a0002c0003t0073g0068
 53 HG00099.hp2
HG00140.hp2
HG00280.hp1
others(50): Show 
HG00099.hp2
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00621.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01099.hp2
HG01106.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01361.hp1
HG01496.hp1
HG01515.hp2
HG01978.hp1
HG01981.hp2
HG02135.hp1
HG02738.hp1
HG02886.hp1
HG03491.hp1
HG03492.hp1
HG03688.hp1
HG04204.hp2
NA18906.hp2
NA18940.hp1
NA18944.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18959.hp2
NA18960.hp1
NA18962.hp2
NA18967.hp1
NA18973.hp1
NA18977.hp2
NA18979.hp1
NA19007.hp1
NA19009.hp1
NA19065.hp1
NA19070.hp1
NA19079.hp1
NA19084.hp1
NA19090.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1116+836T>G
c.1116+836T>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 622697
chr17:622705 G
G
 A
A
 1 a0001c0006t0041g0001
a0001c0006t0041g0001
 1 HG01175.hp1
HG01175.hp1
 intron_variant MODIFIER c.1116+828C>T
c.1116+828C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 622705
chr17:622727 TTC
TTC
 T
T
 49 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(46): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0032g0114
a0001c0001t0034g0126
a0001c0001t0069g0012
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0098g0147
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0108g0148
a0001c0001t0110g0127
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0123g0123
a0001c0001t0128g0132
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0006c0012t0129g0140
 49 HG00423.hp2
HG00741.hp2
HG01081.hp2
others(46): Show 
HG00423.hp2
HG00741.hp2
HG01081.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp2
HG01361.hp2
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp2
HG01928.hp2
HG01978.hp2
HG02040.hp2
HG02056.hp2
HG02083.hp2
HG02109.hp2
HG02129.hp2
HG02132.hp2
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02602.hp2
HG02818.hp2
HG02895.hp1
HG03225.hp2
HG03492.hp2
HG03688.hp2
HG04184.hp2
HG04199.hp2
NA18940.hp2
NA18945.hp2
NA18950.hp1
NA18961.hp1
NA18967.hp2
NA18978.hp2
NA18983.hp2
NA18987.hp2
NA19009.hp2
NA19060.hp2
NA19065.hp2
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19079.hp2
NA19081.hp2
NA20300.hp2
 intron_variant MODIFIER c.1116+804_1116+805d
others(4): Show 
c.1116+804_1116+805delGA
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 622727
chr17:622857 A
A
 AT
AT
 13 a0001c0001t0016g0124
a0001c0002t0001g0090
a0001c0005t0010g0008
others(10): Show 
a0001c0001t0016g0124
a0001c0002t0001g0090
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0002c0003t0018g0214
 13 HG00621.hp1
HG02135.hp2
HG02602.hp1
others(10): Show 
HG00621.hp1
HG02135.hp2
HG02602.hp1
HG02738.hp1
NA18747.hp1
NA18955.hp2
NA18960.hp2
NA18994.hp2
NA19000.hp2
NA19010.hp2
NA19068.hp2
NA19087.hp1
NA19091.hp1
 intron_variant MODIFIER c.1116+675dupA
c.1116+675dupA
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 622857
chr17:622927 C
C
 T
T
 1 a0003c0004t0054g0032
a0003c0004t0054g0032
 1 NA19087.hp2
NA19087.hp2
 intron_variant MODIFIER c.1116+606G>A
c.1116+606G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 622927
chr17:623083 A
A
 C
C
 1 a0002c0003t0009g0188
a0002c0003t0009g0188
 1 NA19080.hp2
NA19080.hp2
 intron_variant MODIFIER c.1116+450T>G
c.1116+450T>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 623083
chr17:623106 C
C
 G
G
 1 a0002c0003t0008g0180
a0002c0003t0008g0180
 1 HG02293.hp1
HG02293.hp1
 intron_variant MODIFIER c.1116+427G>C
c.1116+427G>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 623106
chr17:623237 G
G
 T
T
 4 a0001c0002t0017g0225
a0001c0002t0038g0224
a0001c0002t0143g0226
others(1): Show 
a0001c0002t0017g0225
a0001c0002t0038g0224
a0001c0002t0143g0226
a0001c0002t0149g0202
 4 HG00140.hp1
HG01346.hp1
HG01516.hp1
others(1): Show 
HG00140.hp1
HG01346.hp1
HG01516.hp1
HG03942.hp2
 intron_variant MODIFIER c.1116+296C>A
c.1116+296C>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 623237
chr17:623506 G
G
 A
A
 15 a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
others(12): Show 
a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0002t0078g0041
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0011t0051g0091
 15 HG01074.hp2
HG02135.hp2
HG02602.hp1
others(12): Show 
HG01074.hp2
HG02135.hp2
HG02602.hp1
HG03516.hp2
NA18747.hp1
NA18747.hp2
NA18955.hp2
NA18960.hp2
NA18984.hp2
NA18994.hp2
NA19000.hp2
NA19010.hp2
NA19064.hp2
NA19087.hp1
NA19091.hp1
 intron_variant MODIFIER c.1116+27C>T
c.1116+27C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 11/21 chr17 623506
chr17:623912 T
T
 C
C
 2 a0003c0004t0003g0036
a0003c0004t0081g0035
a0003c0004t0003g0036
a0003c0004t0081g0035
 2 HG02109.hp1
NA21309.hp2
HG02109.hp1
NA21309.hp2
 intron_variant MODIFIER c.975-238A>G
c.975-238A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 10/21 chr17 623912
chr17:623933 GTTTA
GTTTA
 G
G
 3 a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0002t0078g0041
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0002t0078g0041
 3 HG02572.hp2
HG03139.hp1
HG03516.hp2
HG02572.hp2
HG03139.hp1
HG03516.hp2
 intron_variant MODIFIER c.975-263_975-260del
others(4): Show 
c.975-263_975-260delTAAA
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 10/21 chr17 623933
chr17:624000 C
C
 G
G
 2 a0001c0001t0111g0164
a0001c0001t0127g0159
a0001c0001t0111g0164
a0001c0001t0127g0159
 2 HG01891.hp1
HG02895.hp2
HG01891.hp1
HG02895.hp2
 intron_variant MODIFIER c.975-326G>C
c.975-326G>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 10/21 chr17 624000
chr17:624017 C
C
 CT
CT
 12 a0001c0002t0001g0090
a0001c0002t0077g0095
a0001c0005t0010g0008
others(9): Show 
a0001c0002t0001g0090
a0001c0002t0077g0095
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
 12 HG02135.hp2
HG02602.hp1
HG02738.hp1
others(9): Show 
HG02135.hp2
HG02602.hp1
HG02738.hp1
NA18747.hp1
NA18955.hp2
NA18960.hp2
NA18994.hp2
NA19000.hp2
NA19010.hp2
NA19064.hp2
NA19087.hp1
NA19091.hp1
 intron_variant MODIFIER c.975-344dupA
c.975-344dupA
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 10/21 chr17 624017
chr17:624017 CTT
CTT
 C
C
 30 a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
others(27): Show 
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
 30 HG01257.hp2
HG01516.hp2
HG01517.hp1
others(27): Show 
HG01257.hp2
HG01516.hp2
HG01517.hp1
HG02074.hp1
HG02109.hp1
HG03831.hp2
NA18612.hp2
NA18906.hp1
NA18945.hp1
NA18950.hp2
NA18957.hp1
NA18959.hp1
NA18961.hp2
NA18962.hp1
NA18977.hp1
NA18978.hp1
NA18984.hp1
NA18986.hp2
NA18990.hp1
NA18994.hp1
NA19011.hp2
NA19060.hp1
NA19064.hp1
NA19068.hp1
NA19080.hp1
NA19081.hp1
NA19087.hp2
NA19091.hp2
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.975-345_975-344del
others(2): Show 
c.975-345_975-344delAA
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 10/21 chr17 624017
chr17:624192 A
A
 T
T
 15 a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
others(12): Show 
a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0002t0078g0041
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0011t0051g0091
 15 HG01074.hp2
HG02135.hp2
HG02602.hp1
others(12): Show 
HG01074.hp2
HG02135.hp2
HG02602.hp1
HG03516.hp2
NA18747.hp1
NA18747.hp2
NA18955.hp2
NA18960.hp2
NA18984.hp2
NA18994.hp2
NA19000.hp2
NA19010.hp2
NA19064.hp2
NA19087.hp1
NA19091.hp1
 intron_variant MODIFIER c.975-518T>A
c.975-518T>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 10/21 chr17 624192
chr17:624347 C
C
 T
T
 1 a0002c0003t0150g0191
a0002c0003t0150g0191
 1 HG01981.hp1
HG01981.hp1
 intron_variant MODIFIER c.975-673G>A
c.975-673G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 10/21 chr17 624347
chr17:624395 A
A
 C
C
 1 a0001c0001t0108g0148
a0001c0001t0108g0148
 1 HG01192.hp1
HG01192.hp1
 intron_variant MODIFIER c.975-721T>G
c.975-721T>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 10/21 chr17 624395
chr17:624415 C
C
 T
T
 2 a0003c0004t0004g0021
a0003c0004t0004g0026
a0003c0004t0004g0021
a0003c0004t0004g0026
 2 NA18990.hp1
NA19011.hp2
NA18990.hp1
NA19011.hp2
 intron_variant MODIFIER c.975-741G>A
c.975-741G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 10/21 chr17 624415
chr17:624431 A
A
 C
C
 50 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(47): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0032g0114
a0001c0001t0034g0126
a0001c0001t0069g0012
a0001c0001t0084g0046
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0098g0147
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0108g0148
a0001c0001t0110g0127
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0123g0123
a0001c0001t0128g0132
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0006c0012t0129g0140
 50 HG00423.hp2
HG00741.hp2
HG01081.hp2
others(47): Show 
HG00423.hp2
HG00741.hp2
HG01081.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp2
HG01361.hp2
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp2
HG01928.hp2
HG01978.hp2
HG02040.hp2
HG02056.hp2
HG02083.hp2
HG02109.hp2
HG02129.hp2
HG02132.hp2
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02602.hp2
HG02818.hp2
HG02895.hp1
HG03225.hp2
HG03492.hp2
HG03516.hp1
HG03688.hp2
HG04184.hp2
HG04199.hp2
NA18940.hp2
NA18945.hp2
NA18950.hp1
NA18961.hp1
NA18967.hp2
NA18978.hp2
NA18983.hp2
NA18987.hp2
NA19009.hp2
NA19060.hp2
NA19065.hp2
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19079.hp2
NA19081.hp2
NA20300.hp2
 intron_variant MODIFIER c.975-757T>G
c.975-757T>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 10/21 chr17 624431
chr17:624610 T
T
 C
C
 27 a0001c0002t0143g0226
a0003c0004t0003g0015
a0003c0004t0003g0018
others(24): Show 
a0001c0002t0143g0226
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
 27 HG00140.hp1
HG01257.hp2
HG01516.hp2
others(24): Show 
HG00140.hp1
HG01257.hp2
HG01516.hp2
HG01517.hp1
HG02074.hp1
HG02109.hp1
HG03831.hp2
NA18906.hp1
NA18945.hp1
NA18950.hp2
NA18957.hp1
NA18959.hp1
NA18961.hp2
NA18962.hp1
NA18977.hp1
NA18978.hp1
NA18984.hp1
NA18986.hp2
NA18994.hp1
NA19060.hp1
NA19064.hp1
NA19080.hp1
NA19081.hp1
NA19087.hp2
NA19091.hp2
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.975-936A>G
c.975-936A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 10/21 chr17 624610
chr17:624665 G
G
 A
A
 1 a0002c0003t0148g0174
a0002c0003t0148g0174
 1 NA18979.hp2
NA18979.hp2
 intron_variant MODIFIER c.975-991C>T
c.975-991C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 10/21 chr17 624665
chr17:624862 G
G
 A
A
 1 a0001c0002t0086g0221
a0001c0002t0086g0221
 1 HG02145.hp1
HG02145.hp1
 intron_variant MODIFIER c.975-1188C>T
c.975-1188C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 10/21 chr17 624862
chr17:624995 C
C
 CT
CT
 43 a0001c0002t0078g0041
a0001c0014t0135g0166
a0001c0015t0126g0149
others(40): Show 
a0001c0002t0078g0041
a0001c0014t0135g0166
a0001c0015t0126g0149
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0017g0179
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0018g0231
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0085g0184
a0002c0003t0089g0175
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0099g0192
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0145g0187
a0002c0003t0146g0170
a0002c0003t0148g0174
a0002c0003t0150g0191
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0025g0038
a0004c0008t0036g0207
a0005c0009t0137g0189
a0005c0009t0147g0177
 43 HG00323.hp2
HG00423.hp1
HG00438.hp2
others(40): Show 
HG00323.hp2
HG00423.hp1
HG00438.hp2
HG00621.hp1
HG01070.hp2
HG01071.hp1
HG01099.hp1
HG01167.hp1
HG01928.hp1
HG01981.hp1
HG02040.hp1
HG02056.hp1
HG02074.hp2
HG02083.hp1
HG02129.hp1
HG02132.hp1
HG02293.hp1
HG02300.hp1
HG02572.hp1
HG02723.hp1
HG02738.hp2
HG03491.hp2
HG03516.hp2
HG03831.hp1
HG03942.hp1
HG04199.hp1
NA18612.hp1
NA18612.hp2
NA18955.hp1
NA18957.hp2
NA18979.hp2
NA18983.hp1
NA18986.hp1
NA18990.hp1
NA19000.hp1
NA19010.hp1
NA19011.hp2
NA19066.hp2
NA19068.hp1
NA19074.hp1
NA19080.hp2
NA19084.hp2
NA19090.hp2
 intron_variant MODIFIER c.975-1322dupA
c.975-1322dupA
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 10/21 chr17 624995
chr17:624995 C
C
 CTT
CTT
 6 a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
others(3): Show 
a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0005t0042g0044
a0001c0011t0051g0091
a0002c0003t0104g0208
 6 HG01074.hp2
NA18747.hp2
NA18984.hp2
others(3): Show 
HG01074.hp2
NA18747.hp2
NA18984.hp2
NA18987.hp1
NA19000.hp2
NA19064.hp2
 intron_variant MODIFIER c.975-1323_975-1322d
others(4): Show 
c.975-1323_975-1322dupAA
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 10/21 chr17 624995
chr17:624995 C
C
 CTTT
CTTT
 9 a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
others(6): Show 
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
 9 HG02135.hp2
HG02602.hp1
NA18747.hp1
others(6): Show 
HG02135.hp2
HG02602.hp1
NA18747.hp1
NA18955.hp2
NA18960.hp2
NA18994.hp2
NA19010.hp2
NA19087.hp1
NA19091.hp1
 intron_variant MODIFIER c.975-1324_975-1322d
others(5): Show 
c.975-1324_975-1322dupAAA
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 10/21 chr17 624995
chr17:624995 CT
CT
 C
C
 29 a0001c0001t0017g0158
a0001c0001t0034g0162
a0001c0001t0141g0165
others(26): Show 
a0001c0001t0017g0158
a0001c0001t0034g0162
a0001c0001t0141g0165
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
 29 HG00741.hp1
HG01106.hp2
HG01109.hp1
others(26): Show 
HG00741.hp1
HG01106.hp2
HG01109.hp1
HG01257.hp2
HG01516.hp2
HG01517.hp1
HG02074.hp1
HG02109.hp1
HG03831.hp2
NA18906.hp1
NA18945.hp1
NA18950.hp2
NA18957.hp1
NA18959.hp1
NA18961.hp2
NA18962.hp1
NA18977.hp1
NA18978.hp1
NA18984.hp1
NA18986.hp2
NA18994.hp1
NA19060.hp1
NA19064.hp1
NA19080.hp1
NA19081.hp1
NA19087.hp2
NA19091.hp2
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.975-1322delA
c.975-1322delA
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 10/21 chr17 624995
chr17:625017 G
G
 T
T
 53 a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
others(50): Show 
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0016t0052g0099
a0002c0003t0073g0068
 53 HG00099.hp2
HG00140.hp2
HG00280.hp1
others(50): Show 
HG00099.hp2
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00621.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01099.hp2
HG01106.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01361.hp1
HG01496.hp1
HG01515.hp2
HG01978.hp1
HG01981.hp2
HG02135.hp1
HG02738.hp1
HG02886.hp1
HG03491.hp1
HG03492.hp1
HG03688.hp1
HG04204.hp2
NA18906.hp2
NA18940.hp1
NA18944.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18959.hp2
NA18960.hp1
NA18962.hp2
NA18967.hp1
NA18973.hp1
NA18977.hp2
NA18979.hp1
NA19007.hp1
NA19009.hp1
NA19065.hp1
NA19070.hp1
NA19079.hp1
NA19084.hp1
NA19090.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.975-1343C>A
c.975-1343C>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 10/21 chr17 625017
chr17:625022 A
A
 G
G
 25 a0001c0002t0017g0225
a0001c0002t0035g0219
a0001c0002t0038g0224
others(22): Show 
a0001c0002t0017g0225
a0001c0002t0035g0219
a0001c0002t0038g0224
a0001c0002t0050g0049
a0001c0002t0086g0221
a0001c0002t0100g0223
a0001c0002t0109g0222
a0001c0002t0125g0116
a0001c0002t0143g0226
a0001c0002t0149g0202
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0004c0008t0035g0203
a0004c0008t0103g0227
a0004c0008t0124g0229
a0004c0008t0133g0232
a0004c0008t0142g0228
 25 HG00099.hp1
HG00140.hp1
HG00438.hp1
others(22): Show 
HG00099.hp1
HG00140.hp1
HG00438.hp1
HG01346.hp1
HG01516.hp1
HG02135.hp2
HG02145.hp1
HG02280.hp1
HG02602.hp1
HG03942.hp2
HG04184.hp1
NA18747.hp1
NA18944.hp2
NA18955.hp2
NA18960.hp2
NA18973.hp2
NA18990.hp2
NA18994.hp2
NA19000.hp2
NA19007.hp2
NA19010.hp2
NA19011.hp1
NA19066.hp1
NA19087.hp1
NA19091.hp1
 intron_variant MODIFIER c.975-1348T>C
c.975-1348T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 10/21 chr17 625022
chr17:625034 A
A
 G
G
 14 a0001c0002t0017g0225
a0001c0002t0035g0219
a0001c0002t0038g0224
others(11): Show 
a0001c0002t0017g0225
a0001c0002t0035g0219
a0001c0002t0038g0224
a0001c0002t0086g0221
a0001c0002t0100g0223
a0001c0002t0109g0222
a0001c0002t0125g0116
a0001c0002t0143g0226
a0001c0002t0149g0202
a0004c0008t0035g0203
a0004c0008t0103g0227
a0004c0008t0124g0229
a0004c0008t0133g0232
a0004c0008t0142g0228
 14 HG00099.hp1
HG00140.hp1
HG00438.hp1
others(11): Show 
HG00099.hp1
HG00140.hp1
HG00438.hp1
HG01346.hp1
HG01516.hp1
HG02145.hp1
HG03942.hp2
HG04184.hp1
NA18944.hp2
NA18973.hp2
NA18990.hp2
NA19007.hp2
NA19011.hp1
NA19066.hp1
 intron_variant MODIFIER c.975-1360T>C
c.975-1360T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 10/21 chr17 625034
chr17:625403 G
G
 T
T
 2 a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0030g0119
a0001c0001t0030g0120
 2 HG01884.hp2
HG02280.hp2
HG01884.hp2
HG02280.hp2
 intron_variant MODIFIER c.975-1729C>A
c.975-1729C>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 10/21 chr17 625403
chr17:625458 G
G
 A
A
 1 a0001c0001t0029g0151
a0001c0001t0029g0151
 1 HG02622.hp2
HG02622.hp2
 intron_variant MODIFIER c.974+1716C>T
c.974+1716C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 10/21 chr17 625458
chr17:625475 T
T
 TA
TA
 89 a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0084g0046
others(86): Show 
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0084g0046
a0001c0001t0087g0198
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0105g0201
a0001c0001t0118g0195
a0001c0001t0134g0154
a0001c0002t0001g0090
a0001c0002t0017g0225
a0001c0002t0035g0219
a0001c0002t0038g0224
a0001c0002t0050g0049
a0001c0002t0109g0222
a0001c0002t0125g0116
a0001c0002t0143g0226
a0001c0002t0149g0202
a0001c0006t0074g0097
a0001c0007t0070g0112
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0218
a0002c0003t0017g0179
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0018g0231
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0085g0184
a0002c0003t0089g0175
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0099g0192
a0002c0003t0104g0208
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0145g0187
a0002c0003t0146g0170
a0002c0003t0148g0174
a0002c0003t0150g0191
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
a0004c0008t0035g0203
a0004c0008t0036g0207
a0004c0008t0103g0227
a0004c0008t0124g0229
a0004c0008t0133g0232
a0004c0008t0142g0228
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
 89 HG00099.hp1
HG00140.hp1
HG00323.hp2
others(86): Show 
HG00099.hp1
HG00140.hp1
HG00323.hp2
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00621.hp1
HG01070.hp2
HG01071.hp1
HG01099.hp1
HG01099.hp2
HG01109.hp2
HG01167.hp1
HG01175.hp2
HG01346.hp1
HG01346.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01891.hp2
HG01928.hp1
HG01981.hp1
HG02040.hp1
HG02056.hp1
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02109.hp1
HG02129.hp1
HG02132.hp1
HG02280.hp1
HG02293.hp1
HG02300.hp1
HG02572.hp2
HG02738.hp1
HG02818.hp1
HG03139.hp1
HG03491.hp2
HG03516.hp1
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04199.hp1
NA18612.hp1
NA18612.hp2
NA18906.hp1
NA18945.hp1
NA18946.hp1
NA18950.hp2
NA18955.hp1
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18961.hp2
NA18962.hp1
NA18973.hp2
NA18978.hp1
NA18979.hp2
NA18983.hp1
NA18984.hp1
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18990.hp1
NA18990.hp2
NA18994.hp1
NA19000.hp1
NA19007.hp2
NA19010.hp1
NA19011.hp1
NA19011.hp2
NA19060.hp1
NA19064.hp1
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19074.hp1
NA19080.hp1
NA19081.hp1
NA19084.hp2
NA19087.hp2
NA19090.hp2
NA19091.hp2
NA20129.hp2
NA20300.hp1
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.974+1698dupT
c.974+1698dupT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 10/21 chr17 625475
chr17:625475 T
T
 TAA
TAA
 18 a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
others(15): Show 
a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0002t0086g0221
a0001c0002t0100g0223
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0011t0051g0091
a0002c0003t0009g0188
a0002c0003t0144g0215
 18 HG01074.hp2
HG02135.hp2
HG02145.hp1
others(15): Show 
HG01074.hp2
HG02135.hp2
HG02145.hp1
HG02602.hp1
HG02738.hp2
NA18747.hp1
NA18747.hp2
NA18944.hp2
NA18955.hp2
NA18960.hp2
NA18984.hp2
NA18994.hp2
NA19000.hp2
NA19010.hp2
NA19064.hp2
NA19080.hp2
NA19087.hp1
NA19091.hp1
 intron_variant MODIFIER c.974+1697_974+1698d
others(4): Show 
c.974+1697_974+1698dupTT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 10/21 chr17 625475
chr17:625475 TA
TA
 T
T
 12 a0001c0001t0098g0147
a0001c0002t0007g0062
a0001c0002t0007g0081
others(9): Show 
a0001c0001t0098g0147
a0001c0002t0007g0062
a0001c0002t0007g0081
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0016t0052g0099
 12 HG00099.hp2
HG00280.hp2
HG01168.hp2
others(9): Show 
HG00099.hp2
HG00280.hp2
HG01168.hp2
HG01175.hp1
HG01515.hp2
HG01981.hp2
HG02818.hp2
HG03491.hp1
HG03492.hp1
HG03688.hp1
NA18959.hp2
NA19065.hp1
 intron_variant MODIFIER c.974+1698delT
c.974+1698delT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 10/21 chr17 625475
chr17:625520 C
C
 T
T
 10 a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
others(7): Show 
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
 10 HG02135.hp2
HG02602.hp1
NA18747.hp1
others(7): Show 
HG02135.hp2
HG02602.hp1
NA18747.hp1
NA18955.hp2
NA18960.hp2
NA18994.hp2
NA19000.hp2
NA19010.hp2
NA19087.hp1
NA19091.hp1
 intron_variant MODIFIER c.974+1654G>A
c.974+1654G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 10/21 chr17 625520
chr17:625605 G
G
 A
A
 1 a0003c0004t0081g0035
a0003c0004t0081g0035
 1 NA21309.hp2
NA21309.hp2
 intron_variant MODIFIER c.974+1569C>T
c.974+1569C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 10/21 chr17 625605
chr17:625628 T
T
 C
C
 96 a0001c0001t0017g0158
a0001c0001t0028g0196
a0001c0001t0028g0197
others(93): Show 
a0001c0001t0017g0158
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0032g0114
a0001c0001t0032g0204
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0034g0162
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0097g0199
a0001c0001t0098g0147
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0105g0201
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0118g0195
a0001c0001t0122g0160
a0001c0001t0127g0159
a0001c0001t0134g0154
a0001c0001t0138g0161
a0001c0001t0141g0165
a0001c0002t0017g0225
a0001c0002t0035g0219
a0001c0002t0038g0224
a0001c0002t0050g0049
a0001c0002t0078g0041
a0001c0002t0086g0221
a0001c0002t0100g0223
a0001c0002t0109g0222
a0001c0002t0125g0116
a0001c0002t0143g0226
a0001c0002t0149g0202
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0014t0135g0166
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0017g0179
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0018g0231
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0085g0184
a0002c0003t0089g0175
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0099g0192
a0002c0003t0104g0208
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0145g0187
a0002c0003t0146g0170
a0002c0003t0148g0174
a0002c0003t0150g0191
a0002c0010t0038g0156
a0004c0008t0035g0203
a0004c0008t0036g0207
a0004c0008t0103g0227
a0004c0008t0124g0229
a0004c0008t0133g0232
a0004c0008t0142g0228
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
a0007c0013t0132g0163
 96 HG00099.hp1
HG00140.hp1
HG00323.hp2
others(93): Show 
HG00099.hp1
HG00140.hp1
HG00323.hp2
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00621.hp1
HG00741.hp1
HG01070.hp2
HG01071.hp1
HG01099.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01257.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01516.hp1
HG01884.hp1
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01981.hp1
HG02040.hp1
HG02056.hp1
HG02074.hp2
HG02083.hp1
HG02129.hp1
HG02132.hp1
HG02135.hp2
HG02145.hp1
HG02280.hp1
HG02293.hp1
HG02300.hp1
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02622.hp1
HG02622.hp2
HG02723.hp2
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03491.hp2
HG03516.hp2
HG03831.hp1
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04199.hp1
HG04204.hp1
NA18612.hp1
NA18747.hp1
NA18944.hp2
NA18946.hp1
NA18955.hp1
NA18955.hp2
NA18957.hp2
NA18960.hp2
NA18973.hp2
NA18979.hp2
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA18990.hp2
NA18994.hp2
NA19000.hp1
NA19000.hp2
NA19007.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19066.hp1
NA19066.hp2
NA19074.hp1
NA19080.hp2
NA19084.hp2
NA19087.hp1
NA19090.hp2
NA19091.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA21309.hp1
 intron_variant MODIFIER c.974+1546A>G
c.974+1546A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 10/21 chr17 625628
chr17:625634 A
A
 G
G
 2 a0001c0002t0078g0041
a0001c0014t0135g0166
a0001c0002t0078g0041
a0001c0014t0135g0166
 2 HG02572.hp1
HG03516.hp2
HG02572.hp1
HG03516.hp2
 intron_variant MODIFIER c.974+1540T>C
c.974+1540T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 10/21 chr17 625634
chr17:625896 A
A
 G
G
 230 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(227): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0017g0158
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0032g0114
a0001c0001t0032g0204
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0034g0126
a0001c0001t0034g0162
a0001c0001t0069g0012
a0001c0001t0084g0046
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0097g0199
a0001c0001t0098g0147
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0105g0201
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0108g0148
a0001c0001t0110g0127
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0118g0195
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0122g0160
a0001c0001t0123g0123
a0001c0001t0127g0159
a0001c0001t0128g0132
a0001c0001t0134g0154
a0001c0001t0138g0161
a0001c0001t0141g0165
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0001g0094
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0017g0225
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0035g0219
a0001c0002t0038g0224
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0050g0049
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0065g0093
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0077g0095
a0001c0002t0078g0041
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0002t0086g0221
a0001c0002t0100g0223
a0001c0002t0109g0222
a0001c0002t0125g0116
a0001c0002t0143g0226
a0001c0002t0149g0202
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0001c0011t0051g0091
a0001c0014t0135g0166
a0001c0015t0126g0149
a0001c0016t0052g0099
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0017g0179
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0018g0231
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0073g0068
a0002c0003t0085g0184
a0002c0003t0089g0175
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0099g0192
a0002c0003t0104g0208
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0145g0187
a0002c0003t0146g0170
a0002c0003t0148g0174
a0002c0003t0150g0191
a0002c0010t0038g0156
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
a0004c0008t0035g0203
a0004c0008t0036g0207
a0004c0008t0103g0227
a0004c0008t0124g0229
a0004c0008t0133g0232
a0004c0008t0142g0228
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
a0006c0012t0129g0140
a0007c0013t0132g0163
 230 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(227): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00621.hp1
HG00621.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02056.hp1
HG02056.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18955.hp1
NA18955.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18967.hp1
NA18967.hp2
NA18973.hp1
NA18973.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18990.hp1
NA18990.hp2
NA18994.hp1
NA18994.hp2
NA19000.hp1
NA19000.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19087.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.974+1278T>C
c.974+1278T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 10/21 chr17 625896
chr17:625993 A
A
 T
T
 15 a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
others(12): Show 
a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0002t0078g0041
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0011t0051g0091
 15 HG01074.hp2
HG02135.hp2
HG02602.hp1
others(12): Show 
HG01074.hp2
HG02135.hp2
HG02602.hp1
HG03516.hp2
NA18747.hp1
NA18747.hp2
NA18955.hp2
NA18960.hp2
NA18984.hp2
NA18994.hp2
NA19000.hp2
NA19010.hp2
NA19064.hp2
NA19087.hp1
NA19091.hp1
 intron_variant MODIFIER c.974+1181T>A
c.974+1181T>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 10/21 chr17 625993
chr17:626204 G
G
 A
A
 18 a0002c0003t0017g0179
a0002c0003t0018g0172
a0002c0003t0018g0214
others(15): Show 
a0002c0003t0017g0179
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0089g0175
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0146g0170
a0002c0003t0148g0174
a0004c0008t0036g0207
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
 18 HG00323.hp2
HG00423.hp1
HG00621.hp1
others(15): Show 
HG00323.hp2
HG00423.hp1
HG00621.hp1
HG01070.hp2
HG01071.hp1
HG02074.hp2
HG02129.hp1
HG02132.hp1
HG02738.hp2
HG03831.hp1
NA18946.hp1
NA18955.hp1
NA18957.hp2
NA18979.hp2
NA18983.hp1
NA18986.hp1
NA19066.hp2
NA19090.hp2
 intron_variant MODIFIER c.974+970C>T
c.974+970C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 10/21 chr17 626204
chr17:626261 T
T
 A
A
 4 a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
others(1): Show 
a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0011t0051g0091
 4 HG01074.hp2
NA18747.hp2
NA18984.hp2
others(1): Show 
HG01074.hp2
NA18747.hp2
NA18984.hp2
NA19064.hp2
 intron_variant MODIFIER c.974+913A>T
c.974+913A>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 10/21 chr17 626261
chr17:626355 C
C
 T
T
 3 a0001c0001t0002g0134
a0001c0001t0002g0141
a0001c0002t0078g0041
a0001c0001t0002g0134
a0001c0001t0002g0141
a0001c0002t0078g0041
 3 HG02083.hp2
HG03516.hp2
NA19074.hp2
HG02083.hp2
HG03516.hp2
NA19074.hp2
 intron_variant MODIFIER c.974+819G>A
c.974+819G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 10/21 chr17 626355
chr17:626490 G
G
 A
A
 68 a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
others(65): Show 
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0001g0094
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0065g0093
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0077g0095
a0001c0002t0078g0041
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0011t0051g0091
a0001c0016t0052g0099
a0002c0003t0073g0068
 68 HG00099.hp2
HG00140.hp2
HG00280.hp1
others(65): Show 
HG00099.hp2
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00621.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01099.hp2
HG01106.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01361.hp1
HG01496.hp1
HG01515.hp2
HG01978.hp1
HG01981.hp2
HG02135.hp1
HG02135.hp2
HG02602.hp1
HG02738.hp1
HG02886.hp1
HG03491.hp1
HG03492.hp1
HG03516.hp2
HG03688.hp1
HG04204.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp2
NA18940.hp1
NA18944.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18955.hp2
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18962.hp2
NA18967.hp1
NA18973.hp1
NA18977.hp2
NA18979.hp1
NA18984.hp2
NA18994.hp2
NA19000.hp2
NA19007.hp1
NA19009.hp1
NA19010.hp2
NA19064.hp2
NA19065.hp1
NA19070.hp1
NA19079.hp1
NA19084.hp1
NA19087.hp1
NA19090.hp1
NA19091.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.974+684C>T
c.974+684C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 10/21 chr17 626490
chr17:626594 A
A
 G
G
 1 a0001c0002t0143g0226
a0001c0002t0143g0226
 1 HG00140.hp1
HG00140.hp1
 intron_variant MODIFIER c.974+580T>C
c.974+580T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 10/21 chr17 626594
chr17:626596 T
T
 C
C
 15 a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
others(12): Show 
a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0002t0078g0041
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0011t0051g0091
 15 HG01074.hp2
HG02135.hp2
HG02602.hp1
others(12): Show 
HG01074.hp2
HG02135.hp2
HG02602.hp1
HG03516.hp2
NA18747.hp1
NA18747.hp2
NA18955.hp2
NA18960.hp2
NA18984.hp2
NA18994.hp2
NA19000.hp2
NA19010.hp2
NA19064.hp2
NA19087.hp1
NA19091.hp1
 intron_variant MODIFIER c.974+578A>G
c.974+578A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 10/21 chr17 626596
chr17:626632 T
T
 A
A
 1 a0001c0002t0013g0078
a0001c0002t0013g0078
 1 HG00140.hp2
HG00140.hp2
 intron_variant MODIFIER c.974+542A>T
c.974+542A>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 10/21 chr17 626632
chr17:626867 G
G
 A
A
 10 a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
others(7): Show 
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
 10 HG02135.hp2
HG02602.hp1
NA18747.hp1
others(7): Show 
HG02135.hp2
HG02602.hp1
NA18747.hp1
NA18955.hp2
NA18960.hp2
NA18994.hp2
NA19000.hp2
NA19010.hp2
NA19087.hp1
NA19091.hp1
 intron_variant MODIFIER c.974+307C>T
c.974+307C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 10/21 chr17 626867
chr17:626891 G
G
 A
A
 1 a0001c0001t0029g0151
a0001c0001t0029g0151
 1 HG02622.hp2
HG02622.hp2
 intron_variant MODIFIER c.974+283C>T
c.974+283C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 10/21 chr17 626891
chr17:626928 C
C
 A
A
 1 a0003c0004t0004g0014
a0003c0004t0004g0014
 1 NA18957.hp1
NA18957.hp1
 intron_variant MODIFIER c.974+246G>T
c.974+246G>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 10/21 chr17 626928
chr17:627099 T
T
 C
C
 78 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(75): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0017g0158
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0032g0114
a0001c0001t0032g0204
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0034g0126
a0001c0001t0034g0162
a0001c0001t0069g0012
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0097g0199
a0001c0001t0098g0147
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0105g0201
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0108g0148
a0001c0001t0110g0127
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0118g0195
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0122g0160
a0001c0001t0123g0123
a0001c0001t0127g0159
a0001c0001t0128g0132
a0001c0001t0134g0154
a0001c0001t0138g0161
a0001c0001t0141g0165
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0001c0014t0135g0166
a0001c0015t0126g0149
a0002c0010t0038g0156
a0006c0012t0129g0140
a0007c0013t0132g0163
 78 HG00423.hp2
HG00741.hp1
HG00741.hp2
others(75): Show 
HG00423.hp2
HG00741.hp1
HG00741.hp2
HG01081.hp2
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01346.hp2
HG01361.hp2
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp2
HG01978.hp2
HG02040.hp2
HG02056.hp2
HG02083.hp2
HG02109.hp2
HG02129.hp2
HG02132.hp2
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02723.hp1
HG02723.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03492.hp2
HG03688.hp2
HG04184.hp2
HG04199.hp2
HG04204.hp1
NA18940.hp2
NA18945.hp2
NA18950.hp1
NA18961.hp1
NA18967.hp2
NA18978.hp2
NA18983.hp2
NA18987.hp2
NA19009.hp2
NA19060.hp2
NA19065.hp2
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19079.hp2
NA19081.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA21309.hp1
 intron_variant MODIFIER c.974+75A>G
c.974+75A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 10/21 chr17 627099
chr17:627345 C
C
 G
G
 15 a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
others(12): Show 
a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0002t0078g0041
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0011t0051g0091
 15 HG01074.hp2
HG02135.hp2
HG02602.hp1
others(12): Show 
HG01074.hp2
HG02135.hp2
HG02602.hp1
HG03516.hp2
NA18747.hp1
NA18747.hp2
NA18955.hp2
NA18960.hp2
NA18984.hp2
NA18994.hp2
NA19000.hp2
NA19010.hp2
NA19064.hp2
NA19087.hp1
NA19091.hp1
 intron_variant MODIFIER c.832-29G>C
c.832-29G>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 9/21 chr17 627345
chr17:627506 A
A
 G
G
 1 a0001c0001t0084g0046
a0001c0001t0084g0046
 1 HG03516.hp1
HG03516.hp1
 intron_variant MODIFIER c.832-190T>C
c.832-190T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 9/21 chr17 627506
chr17:627550 A
A
 G
G
 177 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(174): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0017g0158
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0032g0114
a0001c0001t0032g0204
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0034g0126
a0001c0001t0034g0162
a0001c0001t0069g0012
a0001c0001t0084g0046
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0097g0199
a0001c0001t0098g0147
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0105g0201
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0108g0148
a0001c0001t0110g0127
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0118g0195
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0122g0160
a0001c0001t0123g0123
a0001c0001t0127g0159
a0001c0001t0128g0132
a0001c0001t0134g0154
a0001c0001t0138g0161
a0001c0001t0141g0165
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0001g0094
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0065g0093
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0077g0095
a0001c0002t0078g0041
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0001c0011t0051g0091
a0001c0014t0135g0166
a0001c0015t0126g0149
a0001c0016t0052g0099
a0002c0003t0073g0068
a0002c0010t0038g0156
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
a0006c0012t0129g0140
a0007c0013t0132g0163
 177 HG00099.hp2
HG00140.hp2
HG00280.hp1
others(174): Show 
HG00099.hp2
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00423.hp2
HG00621.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp2
HG02040.hp2
HG02056.hp2
HG02074.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp2
HG04184.hp2
HG04199.hp2
HG04204.hp1
HG04204.hp2
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18944.hp1
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18955.hp2
NA18957.hp1
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18967.hp1
NA18967.hp2
NA18973.hp1
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18986.hp2
NA18987.hp2
NA18990.hp1
NA18994.hp1
NA18994.hp2
NA19000.hp2
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19011.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19081.hp1
NA19081.hp2
NA19084.hp1
NA19087.hp1
NA19087.hp2
NA19090.hp1
NA19091.hp1
NA19091.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.832-234T>C
c.832-234T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 9/21 chr17 627550
chr17:627774 T
T
 TCA
TCA
 29 a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0043
others(26): Show 
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
 29 HG01257.hp2
HG01516.hp2
HG01517.hp1
others(26): Show 
HG01257.hp2
HG01516.hp2
HG01517.hp1
HG02074.hp1
HG03831.hp2
NA18612.hp2
NA18906.hp1
NA18945.hp1
NA18950.hp2
NA18957.hp1
NA18959.hp1
NA18961.hp2
NA18962.hp1
NA18977.hp1
NA18978.hp1
NA18984.hp1
NA18986.hp2
NA18990.hp1
NA18994.hp1
NA19011.hp2
NA19060.hp1
NA19064.hp1
NA19068.hp1
NA19080.hp1
NA19081.hp1
NA19087.hp2
NA19091.hp2
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.831+312_831+313dup
others(2): Show 
c.831+312_831+313dupTG
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 9/21 chr17 627774
chr17:627774 TCA
TCA
 T
T
 195 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(192): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0017g0158
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0032g0114
a0001c0001t0032g0204
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0034g0126
a0001c0001t0034g0162
a0001c0001t0069g0012
a0001c0001t0084g0046
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0097g0199
a0001c0001t0098g0147
a0001c0001t0102g0220
a0001c0001t0105g0201
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0108g0148
a0001c0001t0110g0127
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0118g0195
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0122g0160
a0001c0001t0123g0123
a0001c0001t0127g0159
a0001c0001t0128g0132
a0001c0001t0134g0154
a0001c0001t0138g0161
a0001c0001t0141g0165
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0017g0225
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0035g0219
a0001c0002t0038g0224
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0050g0049
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0078g0041
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0002t0086g0221
a0001c0002t0100g0223
a0001c0002t0109g0222
a0001c0002t0125g0116
a0001c0002t0143g0226
a0001c0002t0149g0202
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0001c0014t0135g0166
a0001c0015t0126g0149
a0001c0016t0052g0099
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0017g0179
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0018g0231
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0073g0068
a0002c0003t0085g0184
a0002c0003t0089g0175
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0099g0192
a0002c0003t0104g0208
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0145g0187
a0002c0003t0146g0170
a0002c0003t0148g0174
a0002c0003t0150g0191
a0002c0010t0038g0156
a0004c0008t0035g0203
a0004c0008t0036g0207
a0004c0008t0103g0227
a0004c0008t0124g0229
a0004c0008t0133g0232
a0004c0008t0142g0228
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
a0006c0012t0129g0140
a0007c0013t0132g0163
 195 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(192): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00621.hp1
HG00621.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02056.hp1
HG02056.hp2
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
NA18612.hp1
NA18747.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18955.hp1
NA18955.hp2
NA18957.hp2
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18962.hp2
NA18967.hp1
NA18967.hp2
NA18973.hp1
NA18973.hp2
NA18977.hp2
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18986.hp1
NA18987.hp1
NA18987.hp2
NA18990.hp2
NA18994.hp2
NA19000.hp1
NA19000.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19060.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp2
NA19081.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.831+312_831+313del
others(2): Show 
c.831+312_831+313delTG
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 9/21 chr17 627774
chr17:627774 TCACA
TCACA
 T
T
 4 a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
others(1): Show 
a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0011t0051g0091
 4 HG01074.hp2
NA18747.hp2
NA18984.hp2
others(1): Show 
HG01074.hp2
NA18747.hp2
NA18984.hp2
NA19064.hp2
 intron_variant MODIFIER c.831+310_831+313del
others(4): Show 
c.831+310_831+313delTGTG
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 9/21 chr17 627774
chr17:627839 C
C
 T
T
 3 a0002c0003t0009g0218
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0009g0218
a0002c0003t0027g0169
a0002c0003t0027g0181
 3 HG02056.hp1
NA19000.hp1
NA19074.hp1
HG02056.hp1
NA19000.hp1
NA19074.hp1
 intron_variant MODIFIER c.831+249G>A
c.831+249G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 9/21 chr17 627839
chr17:627845 T
T
 A
A
 4 a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
others(1): Show 
a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0011t0051g0091
 4 HG01074.hp2
NA18747.hp2
NA18984.hp2
others(1): Show 
HG01074.hp2
NA18747.hp2
NA18984.hp2
NA19064.hp2
 intron_variant MODIFIER c.831+243A>T
c.831+243A>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 9/21 chr17 627845
chr17:628318 C
C
 T
T
 11 a0001c0002t0078g0041
a0001c0005t0010g0008
a0001c0005t0019g0006
others(8): Show 
a0001c0002t0078g0041
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
 11 HG02135.hp2
HG02602.hp1
HG03516.hp2
others(8): Show 
HG02135.hp2
HG02602.hp1
HG03516.hp2
NA18747.hp1
NA18955.hp2
NA18960.hp2
NA18994.hp2
NA19000.hp2
NA19010.hp2
NA19087.hp1
NA19091.hp1
 intron_variant MODIFIER c.688-87G>A
c.688-87G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 8/21 chr17 628318
chr17:628419 G
G
 A
A
 1 a0002c0003t0017g0179
a0002c0003t0017g0179
 1 NA18957.hp2
NA18957.hp2
 intron_variant MODIFIER c.688-188C>T
c.688-188C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 8/21 chr17 628419
chr17:628489 T
T
 C
C
 30 a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
others(27): Show 
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
 30 HG01257.hp2
HG01516.hp2
HG01517.hp1
others(27): Show 
HG01257.hp2
HG01516.hp2
HG01517.hp1
HG02074.hp1
HG02109.hp1
HG03831.hp2
NA18612.hp2
NA18906.hp1
NA18945.hp1
NA18950.hp2
NA18957.hp1
NA18959.hp1
NA18961.hp2
NA18962.hp1
NA18977.hp1
NA18978.hp1
NA18984.hp1
NA18986.hp2
NA18990.hp1
NA18994.hp1
NA19011.hp2
NA19060.hp1
NA19064.hp1
NA19068.hp1
NA19080.hp1
NA19081.hp1
NA19087.hp2
NA19091.hp2
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.688-258A>G
c.688-258A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 8/21 chr17 628489
chr17:628491 A
A
 G
G
 2 a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0075g0051
a0001c0002t0076g0050
 2 NA18973.hp1
NA19070.hp1
NA18973.hp1
NA19070.hp1
 intron_variant MODIFIER c.688-260T>C
c.688-260T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 8/21 chr17 628491
chr17:628624 A
A
 T
T
 4 a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
others(1): Show 
a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0011t0051g0091
 4 HG01074.hp2
NA18747.hp2
NA18984.hp2
others(1): Show 
HG01074.hp2
NA18747.hp2
NA18984.hp2
NA19064.hp2
 intron_variant MODIFIER c.688-393T>A
c.688-393T>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 8/21 chr17 628624
chr17:628750 G
G
 A
A
 1 a0001c0001t0002g0121
a0001c0001t0002g0121
 1 NA18983.hp2
NA18983.hp2
 intron_variant MODIFIER c.688-519C>T
c.688-519C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 8/21 chr17 628750
chr17:628863 C
C
 T
T
 53 a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
others(50): Show 
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0016t0052g0099
a0002c0003t0073g0068
 53 HG00099.hp2
HG00140.hp2
HG00280.hp1
others(50): Show 
HG00099.hp2
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00621.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01099.hp2
HG01106.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01361.hp1
HG01496.hp1
HG01515.hp2
HG01978.hp1
HG01981.hp2
HG02135.hp1
HG02738.hp1
HG02886.hp1
HG03491.hp1
HG03492.hp1
HG03688.hp1
HG04204.hp2
NA18906.hp2
NA18940.hp1
NA18944.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18959.hp2
NA18960.hp1
NA18962.hp2
NA18967.hp1
NA18973.hp1
NA18977.hp2
NA18979.hp1
NA19007.hp1
NA19009.hp1
NA19065.hp1
NA19070.hp1
NA19079.hp1
NA19084.hp1
NA19090.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.688-632G>A
c.688-632G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 8/21 chr17 628863
chr17:628874 C
C
 T
T
 1 a0001c0002t0014g0077
a0001c0002t0014g0077
 1 NA18967.hp1
NA18967.hp1
 intron_variant MODIFIER c.688-643G>A
c.688-643G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 8/21 chr17 628874
chr17:628948 T
T
 C
C
 1 a0002c0003t0092g0190
a0002c0003t0092g0190
 1 NA19084.hp2
NA19084.hp2
 intron_variant MODIFIER c.688-717A>G
c.688-717A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 8/21 chr17 628948
chr17:628966 T
T
 C
C
 4 a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
others(1): Show 
a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0011t0051g0091
 4 HG01074.hp2
NA18747.hp2
NA18984.hp2
others(1): Show 
HG01074.hp2
NA18747.hp2
NA18984.hp2
NA19064.hp2
 intron_variant MODIFIER c.688-735A>G
c.688-735A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 8/21 chr17 628966
chr17:629062 T
T
 G
G
 1 a0002c0003t0146g0170
a0002c0003t0146g0170
 1 NA19090.hp2
NA19090.hp2
 intron_variant MODIFIER c.688-831A>C
c.688-831A>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 8/21 chr17 629062
chr17:629127 C
C
 G
G
 11 a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
others(8): Show 
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0016t0052g0099
 11 HG00099.hp2
HG00280.hp2
HG01099.hp2
others(8): Show 
HG00099.hp2
HG00280.hp2
HG01099.hp2
HG01168.hp2
HG01175.hp1
HG01515.hp2
HG01981.hp2
HG03491.hp1
HG03492.hp1
HG03688.hp1
NA18948.hp1
 intron_variant MODIFIER c.688-896G>C
c.688-896G>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 8/21 chr17 629127
chr17:629163 C
C
 T
T
 1 a0003c0004t0061g0031
a0003c0004t0061g0031
 1 NA18978.hp1
NA18978.hp1
 intron_variant MODIFIER c.688-932G>A
c.688-932G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 8/21 chr17 629163
chr17:629271 T
T
 C
C
 30 a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
others(27): Show 
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
 30 HG01257.hp2
HG01516.hp2
HG01517.hp1
others(27): Show 
HG01257.hp2
HG01516.hp2
HG01517.hp1
HG02074.hp1
HG02109.hp1
HG03831.hp2
NA18612.hp2
NA18906.hp1
NA18945.hp1
NA18950.hp2
NA18957.hp1
NA18959.hp1
NA18961.hp2
NA18962.hp1
NA18977.hp1
NA18978.hp1
NA18984.hp1
NA18986.hp2
NA18990.hp1
NA18994.hp1
NA19011.hp2
NA19060.hp1
NA19064.hp1
NA19068.hp1
NA19080.hp1
NA19081.hp1
NA19087.hp2
NA19091.hp2
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.688-1040A>G
c.688-1040A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 8/21 chr17 629271
chr17:629493 C
C
 T
T
 2 a0001c0005t0044g0096
a0001c0005t0080g0092
a0001c0005t0044g0096
a0001c0005t0080g0092
 2 NA18955.hp2
NA18960.hp2
NA18955.hp2
NA18960.hp2
 intron_variant MODIFIER c.688-1262G>A
c.688-1262G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 8/21 chr17 629493
chr17:629620 A
A
 G
G
 200 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(197): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0017g0158
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0032g0114
a0001c0001t0032g0204
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0034g0126
a0001c0001t0034g0162
a0001c0001t0069g0012
a0001c0001t0084g0046
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0097g0199
a0001c0001t0098g0147
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0105g0201
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0108g0148
a0001c0001t0110g0127
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0118g0195
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0122g0160
a0001c0001t0123g0123
a0001c0001t0127g0159
a0001c0001t0128g0132
a0001c0001t0134g0154
a0001c0001t0138g0161
a0001c0001t0141g0165
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0001g0094
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0017g0225
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0035g0219
a0001c0002t0038g0224
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0050g0049
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0065g0093
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0077g0095
a0001c0002t0078g0041
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0002t0086g0221
a0001c0002t0100g0223
a0001c0002t0109g0222
a0001c0002t0125g0116
a0001c0002t0143g0226
a0001c0002t0149g0202
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0001c0011t0051g0091
a0001c0014t0135g0166
a0001c0015t0126g0149
a0001c0016t0052g0099
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0017g0179
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0018g0231
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0073g0068
a0002c0003t0085g0184
a0002c0003t0089g0175
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0099g0192
a0002c0003t0104g0208
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0145g0187
a0002c0003t0146g0170
a0002c0003t0148g0174
a0002c0003t0150g0191
a0002c0010t0038g0156
a0004c0008t0035g0203
a0004c0008t0036g0207
a0004c0008t0103g0227
a0004c0008t0124g0229
a0004c0008t0133g0232
a0004c0008t0142g0228
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
a0006c0012t0129g0140
a0007c0013t0132g0163
 200 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(197): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00621.hp1
HG00621.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02056.hp1
HG02056.hp2
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
NA18612.hp1
NA18747.hp1
NA18747.hp2
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18955.hp1
NA18955.hp2
NA18957.hp2
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18962.hp2
NA18967.hp1
NA18967.hp2
NA18973.hp1
NA18973.hp2
NA18977.hp2
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp2
NA18986.hp1
NA18987.hp1
NA18987.hp2
NA18990.hp2
NA18994.hp2
NA19000.hp1
NA19000.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19060.hp2
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp2
NA19081.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.688-1389T>C
c.688-1389T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 8/21 chr17 629620
chr17:629724 C
C
 T
T
 1 a0001c0001t0032g0204
a0001c0001t0032g0204
 1 HG02922.hp1
HG02922.hp1
 intron_variant MODIFIER c.688-1493G>A
c.688-1493G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 8/21 chr17 629724
chr17:629802 A
A
 C
C
 1 a0005c0009t0147g0177
a0005c0009t0147g0177
 1 NA19066.hp2
NA19066.hp2
 intron_variant MODIFIER c.688-1571T>G
c.688-1571T>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 8/21 chr17 629802
chr17:629804 A
A
 C
C
 1 a0001c0002t0143g0226
a0001c0002t0143g0226
 1 HG00140.hp1
HG00140.hp1
 intron_variant MODIFIER c.688-1573T>G
c.688-1573T>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 8/21 chr17 629804
chr17:629805 A
A
 AC
AC
 2 a0001c0002t0086g0221
a0001c0002t0125g0116
a0001c0002t0086g0221
a0001c0002t0125g0116
 2 HG02145.hp1
NA19007.hp2
HG02145.hp1
NA19007.hp2
 intron_variant MODIFIER c.688-1575_688-1574i
others(3): Show 
c.688-1575_688-1574insG
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 8/21 chr17 629805
chr17:629806 A
A
 C
C
 1 a0001c0002t0143g0226
a0001c0002t0143g0226
 1 HG00140.hp1
HG00140.hp1
 intron_variant MODIFIER c.688-1575T>G
c.688-1575T>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 8/21 chr17 629806
chr17:629807 A
A
 AC
AC
 2 a0001c0002t0100g0223
a0001c0002t0109g0222
a0001c0002t0100g0223
a0001c0002t0109g0222
 2 HG00099.hp1
NA18944.hp2
HG00099.hp1
NA18944.hp2
 intron_variant MODIFIER c.688-1577_688-1576i
others(3): Show 
c.688-1577_688-1576insG
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 8/21 chr17 629807
chr17:629807 A
A
 C
C
 2 a0001c0002t0086g0221
a0001c0002t0125g0116
a0001c0002t0086g0221
a0001c0002t0125g0116
 2 HG02145.hp1
NA19007.hp2
HG02145.hp1
NA19007.hp2
 intron_variant MODIFIER c.688-1576T>G
c.688-1576T>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 8/21 chr17 629807
chr17:629808 A
A
 C
C
 10 a0001c0002t0017g0225
a0001c0002t0035g0219
a0001c0002t0038g0224
others(7): Show 
a0001c0002t0017g0225
a0001c0002t0035g0219
a0001c0002t0038g0224
a0001c0002t0143g0226
a0001c0002t0149g0202
a0004c0008t0035g0203
a0004c0008t0103g0227
a0004c0008t0124g0229
a0004c0008t0133g0232
a0004c0008t0142g0228
 10 HG00140.hp1
HG00438.hp1
HG01346.hp1
others(7): Show 
HG00140.hp1
HG00438.hp1
HG01346.hp1
HG01516.hp1
HG03942.hp2
HG04184.hp1
NA18973.hp2
NA18990.hp2
NA19011.hp1
NA19066.hp1
 intron_variant MODIFIER c.688-1577T>G
c.688-1577T>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 8/21 chr17 629808
chr17:629809 C
C
 A
A
 14 a0001c0002t0001g0094
a0001c0002t0017g0225
a0001c0002t0035g0219
others(11): Show 
a0001c0002t0001g0094
a0001c0002t0017g0225
a0001c0002t0035g0219
a0001c0002t0038g0224
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0002t0143g0226
a0001c0002t0149g0202
a0001c0011t0051g0091
a0004c0008t0035g0203
a0004c0008t0103g0227
a0004c0008t0124g0229
a0004c0008t0133g0232
a0004c0008t0142g0228
 14 HG00140.hp1
HG00438.hp1
HG01074.hp2
others(11): Show 
HG00140.hp1
HG00438.hp1
HG01074.hp2
HG01346.hp1
HG01516.hp1
HG03942.hp2
HG04184.hp1
NA18747.hp2
NA18973.hp2
NA18984.hp2
NA18990.hp2
NA19011.hp1
NA19064.hp2
NA19066.hp1
 intron_variant MODIFIER c.688-1578G>T
c.688-1578G>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 8/21 chr17 629809
chr17:629809 C
C
 CA
CA
 4 a0001c0002t0086g0221
a0001c0002t0100g0223
a0001c0002t0109g0222
others(1): Show 
a0001c0002t0086g0221
a0001c0002t0100g0223
a0001c0002t0109g0222
a0001c0002t0125g0116
 4 HG00099.hp1
HG02145.hp1
NA18944.hp2
others(1): Show 
HG00099.hp1
HG02145.hp1
NA18944.hp2
NA19007.hp2
 intron_variant MODIFIER c.688-1579_688-1578i
others(3): Show 
c.688-1579_688-1578insT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 8/21 chr17 629809
chr17:629809 CCA
CCA
 C
C
 55 a0001c0001t0017g0158
a0001c0001t0031g0153
a0001c0001t0031g0155
others(52): Show 
a0001c0001t0017g0158
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0032g0204
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0034g0162
a0001c0001t0084g0046
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0122g0160
a0001c0001t0127g0159
a0001c0001t0138g0161
a0001c0001t0141g0165
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
a0007c0013t0132g0163
 55 HG00741.hp1
HG01106.hp2
HG01109.hp1
others(52): Show 
HG00741.hp1
HG01106.hp2
HG01109.hp1
HG01257.hp1
HG01257.hp2
HG01258.hp2
HG01516.hp2
HG01517.hp1
HG01891.hp1
HG01891.hp2
HG02109.hp1
HG02135.hp2
HG02572.hp2
HG02602.hp1
HG02886.hp2
HG02895.hp2
HG02922.hp1
HG03139.hp1
HG03225.hp1
HG03516.hp1
HG03831.hp2
HG04204.hp1
NA18612.hp2
NA18747.hp1
NA18906.hp1
NA18945.hp1
NA18950.hp2
NA18955.hp2
NA18957.hp1
NA18959.hp1
NA18960.hp2
NA18961.hp2
NA18962.hp1
NA18977.hp1
NA18978.hp1
NA18984.hp1
NA18986.hp2
NA18990.hp1
NA18994.hp2
NA19000.hp2
NA19010.hp2
NA19011.hp2
NA19060.hp1
NA19064.hp1
NA19068.hp1
NA19080.hp1
NA19081.hp1
NA19087.hp1
NA19087.hp2
NA19091.hp1
NA19091.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.688-1580_688-1579d
others(4): Show 
c.688-1580_688-1579delTG
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 8/21 chr17 629809
chr17:629809 CCACA
CCACA
 C
C
 36 a0001c0001t0002g0139
a0001c0001t0016g0118
a0001c0001t0028g0196
others(33): Show 
a0001c0001t0002g0139
a0001c0001t0016g0118
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0032g0114
a0001c0001t0087g0198
a0001c0001t0095g0145
a0001c0001t0098g0147
a0001c0001t0105g0201
a0001c0001t0106g0117
a0001c0001t0113g0122
a0001c0001t0116g0138
a0001c0001t0118g0195
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0123g0123
a0001c0001t0134g0154
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0007t0062g0104
a0001c0014t0135g0166
a0001c0015t0126g0149
a0001c0016t0052g0099
a0002c0003t0104g0208
a0002c0010t0038g0156
a0006c0012t0129g0140
 36 HG00099.hp2
HG00280.hp2
HG00741.hp2
others(33): Show 
HG00099.hp2
HG00280.hp2
HG00741.hp2
HG01099.hp2
HG01109.hp2
HG01168.hp2
HG01175.hp1
HG01346.hp2
HG01515.hp2
HG01884.hp2
HG01981.hp2
HG02109.hp2
HG02280.hp2
HG02293.hp2
HG02572.hp1
HG02622.hp1
HG02723.hp1
HG02723.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG03491.hp1
HG03492.hp1
HG03688.hp1
HG04184.hp2
NA18945.hp2
NA18948.hp1
NA18967.hp2
NA18978.hp2
NA18987.hp1
NA18987.hp2
NA19070.hp2
NA19081.hp2
NA20300.hp1
NA20300.hp2
NA21309.hp1
 intron_variant MODIFIER c.688-1582_688-1579d
others(6): Show 
c.688-1582_688-1579delTGTG
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 8/21 chr17 629809
chr17:629809 CCACACA
CCACACA
 C
C
 73 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(70): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0034g0126
a0001c0001t0069g0012
a0001c0001t0094g0129
a0001c0001t0107g0212
a0001c0001t0110g0127
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0117g0230
a0001c0001t0121g0143
a0001c0001t0128g0132
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0070g0112
a0002c0003t0073g0068
 73 HG00140.hp2
HG00280.hp1
HG00323.hp1
others(70): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp1
HG00423.hp2
HG00621.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01167.hp2
HG01168.hp1
HG01175.hp2
HG01192.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01361.hp1
HG01361.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01928.hp2
HG01978.hp1
HG01978.hp2
HG02040.hp2
HG02056.hp2
HG02083.hp2
HG02129.hp2
HG02132.hp2
HG02135.hp1
HG02300.hp2
HG02602.hp2
HG02738.hp1
HG02886.hp1
HG03492.hp2
HG03688.hp2
HG04199.hp2
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18944.hp1
NA18946.hp2
NA18948.hp2
NA18950.hp1
NA18959.hp2
NA18960.hp1
NA18961.hp1
NA18962.hp2
NA18967.hp1
NA18973.hp1
NA18977.hp2
NA18979.hp1
NA18983.hp2
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19060.hp2
NA19065.hp1
NA19065.hp2
NA19068.hp2
NA19070.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19084.hp1
NA19090.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.688-1584_688-1579d
others(8): Show 
c.688-1584_688-1579delTGTGTG
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 8/21 chr17 629809
chr17:629809 CCACACAC
others(5): Show 
CCACACACACACA
 C
C
 1 a0002c0003t0037g0115
a0002c0003t0037g0115
 1 NA18986.hp1
NA18986.hp1
 intron_variant MODIFIER c.688-1590_688-1579d
others(14): Show 
c.688-1590_688-1579delTGTGTGTGTGTG
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 8/21 chr17 629809
chr17:629809 CCACACAC
others(7): Show 
CCACACACACACACA
 C
C
 35 a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
others(32): Show 
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0017g0179
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0018g0231
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0036g0176
a0002c0003t0037g0168
a0002c0003t0085g0184
a0002c0003t0089g0175
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0099g0192
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0145g0187
a0002c0003t0146g0170
a0002c0003t0148g0174
a0002c0003t0150g0191
a0004c0008t0036g0207
a0005c0009t0130g0178
a0005c0009t0137g0189
 35 HG00323.hp2
HG00423.hp1
HG00438.hp2
others(32): Show 
HG00323.hp2
HG00423.hp1
HG00438.hp2
HG00621.hp1
HG01070.hp2
HG01071.hp1
HG01099.hp1
HG01167.hp1
HG01928.hp1
HG01981.hp1
HG02040.hp1
HG02056.hp1
HG02074.hp2
HG02083.hp1
HG02129.hp1
HG02132.hp1
HG02293.hp1
HG02300.hp1
HG02738.hp2
HG03491.hp2
HG03831.hp1
HG03942.hp1
HG04199.hp1
NA18612.hp1
NA18946.hp1
NA18955.hp1
NA18957.hp2
NA18979.hp2
NA18983.hp1
NA19000.hp1
NA19010.hp1
NA19074.hp1
NA19080.hp2
NA19084.hp2
NA19090.hp2
 intron_variant MODIFIER c.688-1592_688-1579d
others(16): Show 
c.688-1592_688-1579delTGTGTGTGTGTGTG
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 8/21 chr17 629809
chr17:629809 CCACACAC
others(9): Show 
CCACACACACACACACA
 C
C
 1 a0001c0002t0001g0066
a0001c0002t0001g0066
 1 HG04204.hp2
HG04204.hp2
 intron_variant MODIFIER c.688-1594_688-1579d
others(18): Show 
c.688-1594_688-1579delTGTGTGTGTGTGTGTG
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 8/21 chr17 629809
chr17:629810 CACACA
CACACA
 C
C
 4 a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
others(1): Show 
a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0011t0051g0091
 4 HG01074.hp2
NA18747.hp2
NA18984.hp2
others(1): Show 
HG01074.hp2
NA18747.hp2
NA18984.hp2
NA19064.hp2
 intron_variant MODIFIER c.688-1584_688-1580d
others(7): Show 
c.688-1584_688-1580delTGTGT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 8/21 chr17 629810
chr17:629846 C
C
 T
T
 1 a0002c0003t0009g0188
a0002c0003t0009g0188
 1 NA19080.hp2
NA19080.hp2
 intron_variant MODIFIER c.688-1615G>A
c.688-1615G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 8/21 chr17 629846
chr17:630015 T
T
 C
C
 231 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(228): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0017g0158
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0032g0114
a0001c0001t0032g0204
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0034g0126
a0001c0001t0034g0162
a0001c0001t0069g0012
a0001c0001t0084g0046
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0097g0199
a0001c0001t0098g0147
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0105g0201
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0108g0148
a0001c0001t0110g0127
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0118g0195
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0122g0160
a0001c0001t0123g0123
a0001c0001t0127g0159
a0001c0001t0128g0132
a0001c0001t0134g0154
a0001c0001t0138g0161
a0001c0001t0141g0165
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0001g0094
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0017g0225
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0035g0219
a0001c0002t0038g0224
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0049g0048
a0001c0002t0050g0049
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0065g0093
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0077g0095
a0001c0002t0078g0041
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0002t0086g0221
a0001c0002t0100g0223
a0001c0002t0109g0222
a0001c0002t0125g0116
a0001c0002t0143g0226
a0001c0002t0149g0202
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0001c0011t0051g0091
a0001c0014t0135g0166
a0001c0015t0126g0149
a0001c0016t0052g0099
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0017g0179
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0018g0231
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0073g0068
a0002c0003t0085g0184
a0002c0003t0089g0175
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0099g0192
a0002c0003t0104g0208
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0145g0187
a0002c0003t0146g0170
a0002c0003t0148g0174
a0002c0003t0150g0191
a0002c0010t0038g0156
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
a0004c0008t0035g0203
a0004c0008t0036g0207
a0004c0008t0103g0227
a0004c0008t0124g0229
a0004c0008t0133g0232
a0004c0008t0142g0228
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
a0006c0012t0129g0140
a0007c0013t0132g0163
 231 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(228): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00621.hp1
HG00621.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02056.hp1
HG02056.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18955.hp1
NA18955.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18967.hp1
NA18967.hp2
NA18973.hp1
NA18973.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18990.hp1
NA18990.hp2
NA18994.hp1
NA18994.hp2
NA19000.hp1
NA19000.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19087.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.687+1535A>G
c.687+1535A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 8/21 chr17 630015
chr17:630202 G
G
 C
C
 11 a0001c0002t0005g0061
a0001c0002t0007g0058
a0001c0002t0007g0062
others(8): Show 
a0001c0002t0005g0061
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0058g0052
 11 HG01256.hp1
HG01258.hp1
HG02135.hp1
others(8): Show 
HG01256.hp1
HG01258.hp1
HG02135.hp1
NA18944.hp1
NA18959.hp2
NA18962.hp2
NA18979.hp1
NA19007.hp1
NA19009.hp1
NA19065.hp1
NA19090.hp1
 intron_variant MODIFIER c.687+1348C>G
c.687+1348C>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 8/21 chr17 630202
chr17:630224 G
G
 A
A
 2 a0001c0001t0113g0122
a0001c0001t0120g0211
a0001c0001t0113g0122
a0001c0001t0120g0211
 2 HG00741.hp2
HG04184.hp2
HG00741.hp2
HG04184.hp2
 intron_variant MODIFIER c.687+1326C>T
c.687+1326C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 8/21 chr17 630224
chr17:630249 A
A
 G
G
 6 a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
others(3): Show 
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0059g0029
a0003c0004t0061g0031
a0003c0004t0063g0034
 6 NA18945.hp1
NA18978.hp1
NA19060.hp1
others(3): Show 
NA18945.hp1
NA18978.hp1
NA19060.hp1
NA19064.hp1
NA19081.hp1
NA19091.hp2
 intron_variant MODIFIER c.687+1301T>C
c.687+1301T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 8/21 chr17 630249
chr17:630268 G
G
 A
A
 15 a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
others(12): Show 
a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0002t0078g0041
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0011t0051g0091
 15 HG01074.hp2
HG02135.hp2
HG02602.hp1
others(12): Show 
HG01074.hp2
HG02135.hp2
HG02602.hp1
HG03516.hp2
NA18747.hp1
NA18747.hp2
NA18955.hp2
NA18960.hp2
NA18984.hp2
NA18994.hp2
NA19000.hp2
NA19010.hp2
NA19064.hp2
NA19087.hp1
NA19091.hp1
 intron_variant MODIFIER c.687+1282C>T
c.687+1282C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 8/21 chr17 630268
chr17:630316 A
A
 C
C
 3 a0002c0003t0099g0192
a0004c0008t0103g0227
a0004c0008t0133g0232
a0002c0003t0099g0192
a0004c0008t0103g0227
a0004c0008t0133g0232
 3 HG00438.hp2
NA18973.hp2
NA19011.hp1
HG00438.hp2
NA18973.hp2
NA19011.hp1
 intron_variant MODIFIER c.687+1234T>G
c.687+1234T>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 8/21 chr17 630316
chr17:630323 A
A
 C
C
 1 a0001c0002t0072g0071
a0001c0002t0072g0071
 1 NA18960.hp1
NA18960.hp1
 intron_variant MODIFIER c.687+1227T>G
c.687+1227T>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 8/21 chr17 630323
chr17:630348 G
G
 A
A
 4 a0001c0002t0017g0225
a0001c0002t0038g0224
a0001c0002t0143g0226
others(1): Show 
a0001c0002t0017g0225
a0001c0002t0038g0224
a0001c0002t0143g0226
a0001c0002t0149g0202
 4 HG00140.hp1
HG01346.hp1
HG01516.hp1
others(1): Show 
HG00140.hp1
HG01346.hp1
HG01516.hp1
HG03942.hp2
 intron_variant MODIFIER c.687+1202C>T
c.687+1202C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 8/21 chr17 630348
chr17:630393 C
C
 T
T
 10 a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
others(7): Show 
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
 10 HG02135.hp2
HG02602.hp1
NA18747.hp1
others(7): Show 
HG02135.hp2
HG02602.hp1
NA18747.hp1
NA18955.hp2
NA18960.hp2
NA18994.hp2
NA19000.hp2
NA19010.hp2
NA19087.hp1
NA19091.hp1
 intron_variant MODIFIER c.687+1157G>A
c.687+1157G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 8/21 chr17 630393
chr17:630529 A
A
 T
T
 1 a0001c0001t0084g0046
a0001c0001t0084g0046
 1 HG03516.hp1
HG03516.hp1
 intron_variant MODIFIER c.687+1021T>A
c.687+1021T>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 8/21 chr17 630529
chr17:630577 T
T
 C
C
 1 a0001c0001t0116g0138
a0001c0001t0116g0138
 1 NA18945.hp2
NA18945.hp2
 intron_variant MODIFIER c.687+973A>G
c.687+973A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 8/21 chr17 630577
chr17:630696 G
G
 A
A
 1 a0001c0001t0118g0195
a0001c0001t0118g0195
 1 HG01346.hp2
HG01346.hp2
 intron_variant MODIFIER c.687+854C>T
c.687+854C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 8/21 chr17 630696
chr17:630810 G
G
 A
A
 4 a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0088g0152
others(1): Show 
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0088g0152
a0001c0001t0097g0199
 4 HG01884.hp1
HG02622.hp2
HG02922.hp2
others(1): Show 
HG01884.hp1
HG02622.hp2
HG02922.hp2
HG03139.hp2
 intron_variant MODIFIER c.687+740C>T
c.687+740C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 8/21 chr17 630810
chr17:630900 C
C
 G
G
 1 a0001c0001t0113g0122
a0001c0001t0113g0122
 1 HG00741.hp2
HG00741.hp2
 intron_variant MODIFIER c.687+650G>C
c.687+650G>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 8/21 chr17 630900
chr17:630900 C
C
 T
T
 1 a0001c0001t0118g0195
a0001c0001t0118g0195
 1 HG01346.hp2
HG01346.hp2
 intron_variant MODIFIER c.687+650G>A
c.687+650G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 8/21 chr17 630900
chr17:631285 T
T
 G
G
 102 a0001c0001t0032g0114
a0001c0001t0095g0145
a0001c0001t0096g0146
others(99): Show 
a0001c0001t0032g0114
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0098g0147
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0001g0094
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0065g0093
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0077g0095
a0001c0002t0078g0041
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0011t0051g0091
a0001c0016t0052g0099
a0002c0003t0073g0068
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
 102 HG00099.hp2
HG00140.hp2
HG00280.hp1
others(99): Show 
HG00099.hp2
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00621.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01099.hp2
HG01106.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01255.hp1
HG01256.hp1
HG01257.hp2
HG01258.hp1
HG01361.hp1
HG01496.hp1
HG01515.hp2
HG01516.hp2
HG01517.hp1
HG01978.hp1
HG01981.hp2
HG02074.hp1
HG02109.hp1
HG02135.hp1
HG02135.hp2
HG02602.hp1
HG02738.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG03225.hp2
HG03491.hp1
HG03492.hp1
HG03516.hp2
HG03688.hp1
HG03831.hp2
HG04204.hp2
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18944.hp1
NA18945.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp2
NA18955.hp2
NA18957.hp1
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18967.hp1
NA18973.hp1
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18979.hp1
NA18984.hp1
NA18984.hp2
NA18986.hp2
NA18990.hp1
NA18994.hp1
NA18994.hp2
NA19000.hp2
NA19007.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp2
NA19060.hp1
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19068.hp1
NA19070.hp1
NA19079.hp1
NA19080.hp1
NA19081.hp1
NA19084.hp1
NA19087.hp1
NA19087.hp2
NA19090.hp1
NA19091.hp1
NA19091.hp2
NA20300.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.687+265A>C
c.687+265A>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 8/21 chr17 631285
chr17:631656 C
C
 T
T
 1 a0001c0002t0014g0074
a0001c0002t0014g0074
 1 HG01255.hp1
HG01255.hp1
 intron_variant MODIFIER c.609-28G>A
c.609-28G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 631656
chr17:631999 A
A
 G
G
 5 a0001c0001t0032g0114
a0001c0001t0095g0145
a0001c0001t0096g0146
others(2): Show 
a0001c0001t0032g0114
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0098g0147
a0001c0002t0078g0041
 5 HG02818.hp2
HG02895.hp1
HG03225.hp2
others(2): Show 
HG02818.hp2
HG02895.hp1
HG03225.hp2
HG03516.hp2
NA20300.hp2
 intron_variant MODIFIER c.609-371T>C
c.609-371T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 631999
chr17:632025 G
G
 A
A
 4 a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
others(1): Show 
a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0011t0051g0091
 4 HG01074.hp2
NA18747.hp2
NA18984.hp2
others(1): Show 
HG01074.hp2
NA18747.hp2
NA18984.hp2
NA19064.hp2
 intron_variant MODIFIER c.609-397C>T
c.609-397C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 632025
chr17:632201 T
T
 G
G
 53 a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
others(50): Show 
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0016t0052g0099
a0002c0003t0073g0068
 53 HG00099.hp2
HG00140.hp2
HG00280.hp1
others(50): Show 
HG00099.hp2
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00621.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01099.hp2
HG01106.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01361.hp1
HG01496.hp1
HG01515.hp2
HG01978.hp1
HG01981.hp2
HG02135.hp1
HG02738.hp1
HG02886.hp1
HG03491.hp1
HG03492.hp1
HG03688.hp1
HG04204.hp2
NA18906.hp2
NA18940.hp1
NA18944.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18959.hp2
NA18960.hp1
NA18962.hp2
NA18967.hp1
NA18973.hp1
NA18977.hp2
NA18979.hp1
NA19007.hp1
NA19009.hp1
NA19065.hp1
NA19070.hp1
NA19079.hp1
NA19084.hp1
NA19090.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.609-573A>C
c.609-573A>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 632201
chr17:632287 T
T
 C
C
 5 a0001c0001t0032g0114
a0001c0001t0095g0145
a0001c0001t0096g0146
others(2): Show 
a0001c0001t0032g0114
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0098g0147
a0001c0002t0078g0041
 5 HG02818.hp2
HG02895.hp1
HG03225.hp2
others(2): Show 
HG02818.hp2
HG02895.hp1
HG03225.hp2
HG03516.hp2
NA20300.hp2
 intron_variant MODIFIER c.609-659A>G
c.609-659A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 632287
chr17:632392 A
A
 C
C
 3 a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0134g0154
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0134g0154
 3 HG01891.hp2
NA20129.hp2
NA20300.hp1
HG01891.hp2
NA20129.hp2
NA20300.hp1
 intron_variant MODIFIER c.609-764T>G
c.609-764T>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 632392
chr17:632399 T
T
 C
C
 1 a0001c0002t0013g0078
a0001c0002t0013g0078
 1 HG00140.hp2
HG00140.hp2
 intron_variant MODIFIER c.609-771A>G
c.609-771A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 632399
chr17:632459 A
A
 G
G
 53 a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
others(50): Show 
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0016t0052g0099
a0002c0003t0073g0068
 53 HG00099.hp2
HG00140.hp2
HG00280.hp1
others(50): Show 
HG00099.hp2
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00621.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01099.hp2
HG01106.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01361.hp1
HG01496.hp1
HG01515.hp2
HG01978.hp1
HG01981.hp2
HG02135.hp1
HG02738.hp1
HG02886.hp1
HG03491.hp1
HG03492.hp1
HG03688.hp1
HG04204.hp2
NA18906.hp2
NA18940.hp1
NA18944.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18959.hp2
NA18960.hp1
NA18962.hp2
NA18967.hp1
NA18973.hp1
NA18977.hp2
NA18979.hp1
NA19007.hp1
NA19009.hp1
NA19065.hp1
NA19070.hp1
NA19079.hp1
NA19084.hp1
NA19090.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.609-831T>C
c.609-831T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 632459
chr17:632958 T
T
 C
C
 19 a0001c0001t0032g0114
a0001c0001t0095g0145
a0001c0001t0096g0146
others(16): Show 
a0001c0001t0032g0114
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0098g0147
a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0002t0078g0041
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0011t0051g0091
 19 HG01074.hp2
HG02135.hp2
HG02602.hp1
others(16): Show 
HG01074.hp2
HG02135.hp2
HG02602.hp1
HG02818.hp2
HG02895.hp1
HG03225.hp2
HG03516.hp2
NA18747.hp1
NA18747.hp2
NA18955.hp2
NA18960.hp2
NA18984.hp2
NA18994.hp2
NA19000.hp2
NA19010.hp2
NA19064.hp2
NA19087.hp1
NA19091.hp1
NA20300.hp2
 intron_variant MODIFIER c.609-1330A>G
c.609-1330A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 632958
chr17:633095 G
G
 A
A
 30 a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
others(27): Show 
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
 30 HG01257.hp2
HG01516.hp2
HG01517.hp1
others(27): Show 
HG01257.hp2
HG01516.hp2
HG01517.hp1
HG02074.hp1
HG02109.hp1
HG03831.hp2
NA18612.hp2
NA18906.hp1
NA18945.hp1
NA18950.hp2
NA18957.hp1
NA18959.hp1
NA18961.hp2
NA18962.hp1
NA18977.hp1
NA18978.hp1
NA18984.hp1
NA18986.hp2
NA18990.hp1
NA18994.hp1
NA19011.hp2
NA19060.hp1
NA19064.hp1
NA19068.hp1
NA19080.hp1
NA19081.hp1
NA19087.hp2
NA19091.hp2
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.609-1467C>T
c.609-1467C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 633095
chr17:633127 C
C
 T
T
 1 a0001c0001t0032g0204
a0001c0001t0032g0204
 1 HG02922.hp1
HG02922.hp1
 intron_variant MODIFIER c.609-1499G>A
c.609-1499G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 633127
chr17:633173 CGCCCCGC
others(10): Show 
CGCCCCGCAATGGATCAG
 C
C
 1 a0001c0005t0019g0006
a0001c0005t0019g0006
 1 NA19010.hp2
NA19010.hp2
 intron_variant MODIFIER c.609-1562_609-1546d
others(19): Show 
c.609-1562_609-1546delCTGATCCATTGCGGGGC
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 633173
chr17:633174 G
G
 A
A
 46 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(43): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0034g0126
a0001c0001t0069g0012
a0001c0001t0094g0129
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0108g0148
a0001c0001t0110g0127
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0123g0123
a0001c0001t0128g0132
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0002c0003t0104g0208
a0006c0012t0129g0140
 46 HG00423.hp2
HG00741.hp2
HG01081.hp2
others(43): Show 
HG00423.hp2
HG00741.hp2
HG01081.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp2
HG01361.hp2
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp2
HG01928.hp2
HG01978.hp2
HG02040.hp2
HG02056.hp2
HG02083.hp2
HG02109.hp2
HG02129.hp2
HG02132.hp2
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02602.hp2
HG03492.hp2
HG03688.hp2
HG04184.hp2
HG04199.hp2
NA18940.hp2
NA18945.hp2
NA18950.hp1
NA18961.hp1
NA18967.hp2
NA18978.hp2
NA18983.hp2
NA18987.hp1
NA18987.hp2
NA19009.hp2
NA19060.hp2
NA19065.hp2
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19079.hp2
NA19081.hp2
 intron_variant MODIFIER c.609-1546C>T
c.609-1546C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 633174
chr17:633352 G
G
 C
C
 2 a0001c0002t0007g0062
a0001c0002t0010g0057
a0001c0002t0007g0062
a0001c0002t0010g0057
 2 NA18959.hp2
NA19009.hp1
NA18959.hp2
NA19009.hp1
 intron_variant MODIFIER c.609-1724C>G
c.609-1724C>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 633352
chr17:633797 C
C
 T
T
 230 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(227): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0017g0158
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0032g0114
a0001c0001t0032g0204
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0034g0126
a0001c0001t0034g0162
a0001c0001t0069g0012
a0001c0001t0084g0046
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0097g0199
a0001c0001t0098g0147
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0105g0201
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0108g0148
a0001c0001t0110g0127
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0118g0195
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0122g0160
a0001c0001t0123g0123
a0001c0001t0127g0159
a0001c0001t0128g0132
a0001c0001t0134g0154
a0001c0001t0138g0161
a0001c0001t0141g0165
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0001g0094
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0017g0225
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0035g0219
a0001c0002t0038g0224
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0050g0049
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0065g0093
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0077g0095
a0001c0002t0078g0041
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0002t0086g0221
a0001c0002t0100g0223
a0001c0002t0109g0222
a0001c0002t0125g0116
a0001c0002t0143g0226
a0001c0002t0149g0202
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0001c0011t0051g0091
a0001c0014t0135g0166
a0001c0015t0126g0149
a0001c0016t0052g0099
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0017g0179
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0018g0231
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0073g0068
a0002c0003t0085g0184
a0002c0003t0089g0175
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0099g0192
a0002c0003t0104g0208
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0145g0187
a0002c0003t0146g0170
a0002c0003t0148g0174
a0002c0003t0150g0191
a0002c0010t0038g0156
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
a0004c0008t0035g0203
a0004c0008t0036g0207
a0004c0008t0103g0227
a0004c0008t0124g0229
a0004c0008t0133g0232
a0004c0008t0142g0228
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
a0006c0012t0129g0140
a0007c0013t0132g0163
 230 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(227): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00621.hp1
HG00621.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02056.hp1
HG02056.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18955.hp1
NA18955.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18967.hp1
NA18967.hp2
NA18973.hp1
NA18973.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18990.hp1
NA18990.hp2
NA18994.hp1
NA18994.hp2
NA19000.hp1
NA19000.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19087.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.609-2169G>A
c.609-2169G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 633797
chr17:633855 G
G
 T
T
 15 a0001c0001t0032g0114
a0001c0001t0095g0145
a0001c0001t0096g0146
others(12): Show 
a0001c0001t0032g0114
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0098g0147
a0001c0002t0078g0041
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
 15 HG02135.hp2
HG02602.hp1
HG02818.hp2
others(12): Show 
HG02135.hp2
HG02602.hp1
HG02818.hp2
HG02895.hp1
HG03225.hp2
HG03516.hp2
NA18747.hp1
NA18955.hp2
NA18960.hp2
NA18994.hp2
NA19000.hp2
NA19010.hp2
NA19087.hp1
NA19091.hp1
NA20300.hp2
 intron_variant MODIFIER c.609-2227C>A
c.609-2227C>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 633855
chr17:633869 A
A
 G
G
 4 a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
others(1): Show 
a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0011t0051g0091
 4 HG01074.hp2
NA18747.hp2
NA18984.hp2
others(1): Show 
HG01074.hp2
NA18747.hp2
NA18984.hp2
NA19064.hp2
 intron_variant MODIFIER c.609-2241T>C
c.609-2241T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 633869
chr17:633982 C
C
 CA
CA
 10 a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
others(7): Show 
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
 10 HG02135.hp2
HG02602.hp1
NA18747.hp1
others(7): Show 
HG02135.hp2
HG02602.hp1
NA18747.hp1
NA18955.hp2
NA18960.hp2
NA18994.hp2
NA19000.hp2
NA19010.hp2
NA19087.hp1
NA19091.hp1
 intron_variant MODIFIER c.609-2355dupT
c.609-2355dupT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 633982
chr17:634156 TATTCTTG
others(62): Show 
TATTCTTGGTGACTCTGGAACTGAGGTGGCAGAAAGGAGAGCCTCTGGCC
CAAACTATTCCCTACTCTGA
 T
T
 1 a0001c0001t0084g0046
a0001c0001t0084g0046
 1 HG03516.hp1
HG03516.hp1
 intron_variant MODIFIER c.609-2597_609-2529d
others(71): Show 
c.609-2597_609-2529delTCAGAGTAGGGAATAGTTTGGGCCAGAG
GCTCTCCTTTCTGCCACCTCAGTTCCAGAGTCACCAAGAAT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 634156
chr17:634242 G
G
 T
T
 1 a0001c0001t0114g0142
a0001c0001t0114g0142
 1 HG02602.hp2
HG02602.hp2
 intron_variant MODIFIER c.609-2614C>A
c.609-2614C>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 634242
chr17:634436 T
T
 C
C
 1 a0002c0003t0089g0175
a0002c0003t0089g0175
 1 HG02074.hp2
HG02074.hp2
 intron_variant MODIFIER c.609-2808A>G
c.609-2808A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 634436
chr17:634482 A
A
 G
G
 230 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(227): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0017g0158
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0032g0114
a0001c0001t0032g0204
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0034g0126
a0001c0001t0034g0162
a0001c0001t0069g0012
a0001c0001t0084g0046
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0097g0199
a0001c0001t0098g0147
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0105g0201
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0108g0148
a0001c0001t0110g0127
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0118g0195
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0122g0160
a0001c0001t0123g0123
a0001c0001t0127g0159
a0001c0001t0128g0132
a0001c0001t0134g0154
a0001c0001t0138g0161
a0001c0001t0141g0165
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0001g0094
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0017g0225
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0035g0219
a0001c0002t0038g0224
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0050g0049
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0065g0093
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0077g0095
a0001c0002t0078g0041
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0002t0086g0221
a0001c0002t0100g0223
a0001c0002t0109g0222
a0001c0002t0125g0116
a0001c0002t0143g0226
a0001c0002t0149g0202
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0001c0011t0051g0091
a0001c0014t0135g0166
a0001c0015t0126g0149
a0001c0016t0052g0099
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0017g0179
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0018g0231
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0073g0068
a0002c0003t0085g0184
a0002c0003t0089g0175
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0099g0192
a0002c0003t0104g0208
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0145g0187
a0002c0003t0146g0170
a0002c0003t0148g0174
a0002c0003t0150g0191
a0002c0010t0038g0156
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
a0004c0008t0035g0203
a0004c0008t0036g0207
a0004c0008t0103g0227
a0004c0008t0124g0229
a0004c0008t0133g0232
a0004c0008t0142g0228
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
a0006c0012t0129g0140
a0007c0013t0132g0163
 230 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(227): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00621.hp1
HG00621.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02056.hp1
HG02056.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18955.hp1
NA18955.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18967.hp1
NA18967.hp2
NA18973.hp1
NA18973.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18990.hp1
NA18990.hp2
NA18994.hp1
NA18994.hp2
NA19000.hp1
NA19000.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19087.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.609-2854T>C
c.609-2854T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 634482
chr17:634795 T
T
 C
C
 2 a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0031g0153
a0001c0001t0031g0155
 2 HG01891.hp2
NA20129.hp2
HG01891.hp2
NA20129.hp2
 intron_variant MODIFIER c.609-3167A>G
c.609-3167A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 634795
chr17:634844 C
C
 T
T
 4 a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
others(1): Show 
a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0011t0051g0091
 4 HG01074.hp2
NA18747.hp2
NA18984.hp2
others(1): Show 
HG01074.hp2
NA18747.hp2
NA18984.hp2
NA19064.hp2
 intron_variant MODIFIER c.609-3216G>A
c.609-3216G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 634844
chr17:634858 G
G
 A
A
 1 a0001c0001t0108g0148
a0001c0001t0108g0148
 1 HG01192.hp1
HG01192.hp1
 intron_variant MODIFIER c.609-3230C>T
c.609-3230C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 634858
chr17:634901 G
G
 GTA
GTA
 53 a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
others(50): Show 
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0016t0052g0099
a0002c0003t0073g0068
 53 HG00099.hp2
HG00140.hp2
HG00280.hp1
others(50): Show 
HG00099.hp2
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00621.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01099.hp2
HG01106.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01361.hp1
HG01496.hp1
HG01515.hp2
HG01978.hp1
HG01981.hp2
HG02135.hp1
HG02738.hp1
HG02886.hp1
HG03491.hp1
HG03492.hp1
HG03688.hp1
HG04204.hp2
NA18906.hp2
NA18940.hp1
NA18944.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18959.hp2
NA18960.hp1
NA18962.hp2
NA18967.hp1
NA18973.hp1
NA18977.hp2
NA18979.hp1
NA19007.hp1
NA19009.hp1
NA19065.hp1
NA19070.hp1
NA19079.hp1
NA19084.hp1
NA19090.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.609-3275_609-3274d
others(4): Show 
c.609-3275_609-3274dupTA
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 634901
chr17:634914 A
A
 C
C
 53 a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
others(50): Show 
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0016t0052g0099
a0002c0003t0073g0068
 53 HG00099.hp2
HG00140.hp2
HG00280.hp1
others(50): Show 
HG00099.hp2
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00621.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01099.hp2
HG01106.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01361.hp1
HG01496.hp1
HG01515.hp2
HG01978.hp1
HG01981.hp2
HG02135.hp1
HG02738.hp1
HG02886.hp1
HG03491.hp1
HG03492.hp1
HG03688.hp1
HG04204.hp2
NA18906.hp2
NA18940.hp1
NA18944.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18959.hp2
NA18960.hp1
NA18962.hp2
NA18967.hp1
NA18973.hp1
NA18977.hp2
NA18979.hp1
NA19007.hp1
NA19009.hp1
NA19065.hp1
NA19070.hp1
NA19079.hp1
NA19084.hp1
NA19090.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.609-3286T>G
c.609-3286T>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 634914
chr17:634916 T
T
 C
C
 7 a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
others(4): Show 
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
 7 HG02135.hp2
HG02602.hp1
NA18747.hp1
others(4): Show 
HG02135.hp2
HG02602.hp1
NA18747.hp1
NA18955.hp2
NA18960.hp2
NA18994.hp2
NA19010.hp2
 intron_variant MODIFIER c.609-3288A>G
c.609-3288A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 634916
chr17:634920 G
G
 A
A
 53 a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
others(50): Show 
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0016t0052g0099
a0002c0003t0073g0068
 53 HG00099.hp2
HG00140.hp2
HG00280.hp1
others(50): Show 
HG00099.hp2
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00621.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01099.hp2
HG01106.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01361.hp1
HG01496.hp1
HG01515.hp2
HG01978.hp1
HG01981.hp2
HG02135.hp1
HG02738.hp1
HG02886.hp1
HG03491.hp1
HG03492.hp1
HG03688.hp1
HG04204.hp2
NA18906.hp2
NA18940.hp1
NA18944.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18959.hp2
NA18960.hp1
NA18962.hp2
NA18967.hp1
NA18973.hp1
NA18977.hp2
NA18979.hp1
NA19007.hp1
NA19009.hp1
NA19065.hp1
NA19070.hp1
NA19079.hp1
NA19084.hp1
NA19090.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.609-3292C>T
c.609-3292C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 634920
chr17:634923 G
G
 A
A
 4 a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
others(1): Show 
a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0011t0051g0091
 4 HG01074.hp2
NA18747.hp2
NA18984.hp2
others(1): Show 
HG01074.hp2
NA18747.hp2
NA18984.hp2
NA19064.hp2
 intron_variant MODIFIER c.609-3295C>T
c.609-3295C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 634923
chr17:634956 T
T
 C
C
 46 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(43): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0034g0126
a0001c0001t0069g0012
a0001c0001t0094g0129
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0108g0148
a0001c0001t0110g0127
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0123g0123
a0001c0001t0128g0132
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0002c0003t0104g0208
a0006c0012t0129g0140
 46 HG00423.hp2
HG00741.hp2
HG01081.hp2
others(43): Show 
HG00423.hp2
HG00741.hp2
HG01081.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp2
HG01361.hp2
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp2
HG01928.hp2
HG01978.hp2
HG02040.hp2
HG02056.hp2
HG02083.hp2
HG02109.hp2
HG02129.hp2
HG02132.hp2
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02602.hp2
HG03492.hp2
HG03688.hp2
HG04184.hp2
HG04199.hp2
NA18940.hp2
NA18945.hp2
NA18950.hp1
NA18961.hp1
NA18967.hp2
NA18978.hp2
NA18983.hp2
NA18987.hp1
NA18987.hp2
NA19009.hp2
NA19060.hp2
NA19065.hp2
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19079.hp2
NA19081.hp2
 intron_variant MODIFIER c.609-3328A>G
c.609-3328A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 634956
chr17:635017 G
G
 C
C
 1 a0001c0002t0005g0061
a0001c0002t0005g0061
 1 HG02135.hp1
HG02135.hp1
 intron_variant MODIFIER c.609-3389C>G
c.609-3389C>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 635017
chr17:635025 G
G
 T
T
 1 a0001c0001t0088g0152
a0001c0001t0088g0152
 1 HG01884.hp1
HG01884.hp1
 intron_variant MODIFIER c.609-3397C>A
c.609-3397C>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 635025
chr17:635048 C
C
 A
A
 1 a0001c0001t0095g0145
a0001c0001t0095g0145
 1 NA20300.hp2
NA20300.hp2
 intron_variant MODIFIER c.609-3420G>T
c.609-3420G>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 635048
chr17:635049 C
C
 A
A
 1 a0001c0001t0095g0145
a0001c0001t0095g0145
 1 NA20300.hp2
NA20300.hp2
 intron_variant MODIFIER c.609-3421G>T
c.609-3421G>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 635049
chr17:635264 T
T
 C
C
 30 a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
others(27): Show 
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
 30 HG01257.hp2
HG01516.hp2
HG01517.hp1
others(27): Show 
HG01257.hp2
HG01516.hp2
HG01517.hp1
HG02074.hp1
HG02109.hp1
HG03831.hp2
NA18612.hp2
NA18906.hp1
NA18945.hp1
NA18950.hp2
NA18957.hp1
NA18959.hp1
NA18961.hp2
NA18962.hp1
NA18977.hp1
NA18978.hp1
NA18984.hp1
NA18986.hp2
NA18990.hp1
NA18994.hp1
NA19011.hp2
NA19060.hp1
NA19064.hp1
NA19068.hp1
NA19080.hp1
NA19081.hp1
NA19087.hp2
NA19091.hp2
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.609-3636A>G
c.609-3636A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 635264
chr17:635565 A
A
 G
G
 1 a0002c0003t0148g0174
a0002c0003t0148g0174
 1 NA18979.hp2
NA18979.hp2
 intron_variant MODIFIER c.609-3937T>C
c.609-3937T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 635565
chr17:635611 G
G
 A
A
 15 a0001c0001t0032g0114
a0001c0001t0095g0145
a0001c0001t0096g0146
others(12): Show 
a0001c0001t0032g0114
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0098g0147
a0001c0002t0078g0041
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
 15 HG02135.hp2
HG02602.hp1
HG02818.hp2
others(12): Show 
HG02135.hp2
HG02602.hp1
HG02818.hp2
HG02895.hp1
HG03225.hp2
HG03516.hp2
NA18747.hp1
NA18955.hp2
NA18960.hp2
NA18994.hp2
NA19000.hp2
NA19010.hp2
NA19087.hp1
NA19091.hp1
NA20300.hp2
 intron_variant MODIFIER c.609-3983C>T
c.609-3983C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 635611
chr17:635621 C
C
 T
T
 14 a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
others(11): Show 
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0097g0199
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0105g0201
a0001c0001t0118g0195
a0001c0001t0134g0154
 14 HG01109.hp2
HG01346.hp2
HG01884.hp1
others(11): Show 
HG01109.hp2
HG01346.hp2
HG01884.hp1
HG01891.hp2
HG02572.hp2
HG02622.hp1
HG02622.hp2
HG02723.hp2
HG02818.hp1
HG02922.hp2
HG03139.hp1
HG03139.hp2
NA20129.hp2
NA20300.hp1
 intron_variant MODIFIER c.609-3993G>A
c.609-3993G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 635621
chr17:635651 G
G
 A
A
 1 a0001c0014t0135g0166
a0001c0014t0135g0166
 1 HG02572.hp1
HG02572.hp1
 intron_variant MODIFIER c.609-4023C>T
c.609-4023C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 635651
chr17:635808 T
T
 C
C
 2 a0001c0001t0002g0139
a0001c0001t0016g0118
a0001c0001t0002g0139
a0001c0001t0016g0118
 2 NA18967.hp2
NA19070.hp2
NA18967.hp2
NA19070.hp2
 intron_variant MODIFIER c.609-4180A>G
c.609-4180A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 635808
chr17:636004 C
C
 T
T
 4 a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
others(1): Show 
a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0011t0051g0091
 4 HG01074.hp2
NA18747.hp2
NA18984.hp2
others(1): Show 
HG01074.hp2
NA18747.hp2
NA18984.hp2
NA19064.hp2
 intron_variant MODIFIER c.609-4376G>A
c.609-4376G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 636004
chr17:636716 C
C
 T
T
 4 a0001c0001t0032g0114
a0001c0001t0095g0145
a0001c0001t0096g0146
others(1): Show 
a0001c0001t0032g0114
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0098g0147
 4 HG02818.hp2
HG02895.hp1
HG03225.hp2
others(1): Show 
HG02818.hp2
HG02895.hp1
HG03225.hp2
NA20300.hp2
 intron_variant MODIFIER c.609-5088G>A
c.609-5088G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 636716
chr17:636724 G
G
 C
C
 10 a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
others(7): Show 
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
 10 HG02135.hp2
HG02602.hp1
NA18747.hp1
others(7): Show 
HG02135.hp2
HG02602.hp1
NA18747.hp1
NA18955.hp2
NA18960.hp2
NA18994.hp2
NA19000.hp2
NA19010.hp2
NA19087.hp1
NA19091.hp1
 intron_variant MODIFIER c.609-5096C>G
c.609-5096C>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 636724
chr17:637255 G
G
 A
A
 1 a0003c0004t0003g0015
a0003c0004t0003g0015
 1 HG01257.hp2
HG01257.hp2
 intron_variant MODIFIER c.609-5627C>T
c.609-5627C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 637255
chr17:637381 T
T
 C
C
 1 a0002c0003t0139g0167
a0002c0003t0139g0167
 1 NA18983.hp1
NA18983.hp1
 intron_variant MODIFIER c.609-5753A>G
c.609-5753A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 637381
chr17:637583 G
G
 C
C
 15 a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
others(12): Show 
a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0002t0078g0041
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0011t0051g0091
 15 HG01074.hp2
HG02135.hp2
HG02602.hp1
others(12): Show 
HG01074.hp2
HG02135.hp2
HG02602.hp1
HG03516.hp2
NA18747.hp1
NA18747.hp2
NA18955.hp2
NA18960.hp2
NA18984.hp2
NA18994.hp2
NA19000.hp2
NA19010.hp2
NA19064.hp2
NA19087.hp1
NA19091.hp1
 intron_variant MODIFIER c.609-5955C>G
c.609-5955C>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 637583
chr17:637673 G
G
 A
A
 5 a0001c0001t0017g0158
a0001c0001t0034g0162
a0001c0001t0122g0160
others(2): Show 
a0001c0001t0017g0158
a0001c0001t0034g0162
a0001c0001t0122g0160
a0001c0001t0138g0161
a0001c0001t0141g0165
 5 HG00741.hp1
HG01106.hp2
HG01109.hp1
others(2): Show 
HG00741.hp1
HG01106.hp2
HG01109.hp1
HG01257.hp1
HG01258.hp2
 intron_variant MODIFIER c.609-6045C>T
c.609-6045C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 637673
chr17:637744 C
C
 T
T
 4 a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
others(1): Show 
a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0011t0051g0091
 4 HG01074.hp2
NA18747.hp2
NA18984.hp2
others(1): Show 
HG01074.hp2
NA18747.hp2
NA18984.hp2
NA19064.hp2
 intron_variant MODIFIER c.609-6116G>A
c.609-6116G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 637744
chr17:637795 T
T
 C
C
 53 a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
others(50): Show 
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0016t0052g0099
a0002c0003t0073g0068
 53 HG00099.hp2
HG00140.hp2
HG00280.hp1
others(50): Show 
HG00099.hp2
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00621.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01099.hp2
HG01106.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01361.hp1
HG01496.hp1
HG01515.hp2
HG01978.hp1
HG01981.hp2
HG02135.hp1
HG02738.hp1
HG02886.hp1
HG03491.hp1
HG03492.hp1
HG03688.hp1
HG04204.hp2
NA18906.hp2
NA18940.hp1
NA18944.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18959.hp2
NA18960.hp1
NA18962.hp2
NA18967.hp1
NA18973.hp1
NA18977.hp2
NA18979.hp1
NA19007.hp1
NA19009.hp1
NA19065.hp1
NA19070.hp1
NA19079.hp1
NA19084.hp1
NA19090.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.609-6167A>G
c.609-6167A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 637795
chr17:637863 C
C
 T
T
 1 a0001c0001t0107g0212
a0001c0001t0107g0212
 1 HG01255.hp2
HG01255.hp2
 intron_variant MODIFIER c.609-6235G>A
c.609-6235G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 637863
chr17:637959 C
C
 T
T
 2 a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0028g0196
a0001c0001t0028g0197
 2 HG02622.hp1
HG02723.hp2
HG02622.hp1
HG02723.hp2
 intron_variant MODIFIER c.609-6331G>A
c.609-6331G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 637959
chr17:638165 A
A
 T
T
 230 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(227): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0017g0158
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0032g0114
a0001c0001t0032g0204
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0034g0126
a0001c0001t0034g0162
a0001c0001t0069g0012
a0001c0001t0084g0046
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0097g0199
a0001c0001t0098g0147
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0105g0201
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0108g0148
a0001c0001t0110g0127
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0118g0195
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0122g0160
a0001c0001t0123g0123
a0001c0001t0127g0159
a0001c0001t0128g0132
a0001c0001t0134g0154
a0001c0001t0138g0161
a0001c0001t0141g0165
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0001g0094
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0017g0225
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0035g0219
a0001c0002t0038g0224
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0050g0049
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0065g0093
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0077g0095
a0001c0002t0078g0041
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0002t0086g0221
a0001c0002t0100g0223
a0001c0002t0109g0222
a0001c0002t0125g0116
a0001c0002t0143g0226
a0001c0002t0149g0202
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0001c0011t0051g0091
a0001c0014t0135g0166
a0001c0015t0126g0149
a0001c0016t0052g0099
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0017g0179
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0018g0231
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0073g0068
a0002c0003t0085g0184
a0002c0003t0089g0175
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0099g0192
a0002c0003t0104g0208
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0145g0187
a0002c0003t0146g0170
a0002c0003t0148g0174
a0002c0003t0150g0191
a0002c0010t0038g0156
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
a0004c0008t0035g0203
a0004c0008t0036g0207
a0004c0008t0103g0227
a0004c0008t0124g0229
a0004c0008t0133g0232
a0004c0008t0142g0228
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
a0006c0012t0129g0140
a0007c0013t0132g0163
 230 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(227): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00621.hp1
HG00621.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02056.hp1
HG02056.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18955.hp1
NA18955.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18967.hp1
NA18967.hp2
NA18973.hp1
NA18973.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18990.hp1
NA18990.hp2
NA18994.hp1
NA18994.hp2
NA19000.hp1
NA19000.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19087.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.609-6537T>A
c.609-6537T>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 638165
chr17:638346 C
C
 T
T
 1 a0002c0010t0038g0156
a0002c0010t0038g0156
 1 NA21309.hp1
NA21309.hp1
 intron_variant MODIFIER c.609-6718G>A
c.609-6718G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 638346
chr17:638618 A
A
 C
C
 230 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(227): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0017g0158
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0032g0114
a0001c0001t0032g0204
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0034g0126
a0001c0001t0034g0162
a0001c0001t0069g0012
a0001c0001t0084g0046
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0097g0199
a0001c0001t0098g0147
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0105g0201
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0108g0148
a0001c0001t0110g0127
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0118g0195
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0122g0160
a0001c0001t0123g0123
a0001c0001t0127g0159
a0001c0001t0128g0132
a0001c0001t0134g0154
a0001c0001t0138g0161
a0001c0001t0141g0165
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0001g0094
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0017g0225
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0035g0219
a0001c0002t0038g0224
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0050g0049
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0065g0093
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0077g0095
a0001c0002t0078g0041
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0002t0086g0221
a0001c0002t0100g0223
a0001c0002t0109g0222
a0001c0002t0125g0116
a0001c0002t0143g0226
a0001c0002t0149g0202
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0001c0011t0051g0091
a0001c0014t0135g0166
a0001c0015t0126g0149
a0001c0016t0052g0099
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0017g0179
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0018g0231
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0073g0068
a0002c0003t0085g0184
a0002c0003t0089g0175
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0099g0192
a0002c0003t0104g0208
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0145g0187
a0002c0003t0146g0170
a0002c0003t0148g0174
a0002c0003t0150g0191
a0002c0010t0038g0156
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
a0004c0008t0035g0203
a0004c0008t0036g0207
a0004c0008t0103g0227
a0004c0008t0124g0229
a0004c0008t0133g0232
a0004c0008t0142g0228
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
a0006c0012t0129g0140
a0007c0013t0132g0163
 230 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(227): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00621.hp1
HG00621.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02056.hp1
HG02056.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18955.hp1
NA18955.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18967.hp1
NA18967.hp2
NA18973.hp1
NA18973.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18990.hp1
NA18990.hp2
NA18994.hp1
NA18994.hp2
NA19000.hp1
NA19000.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19087.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.609-6990T>G
c.609-6990T>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 638618
chr17:638632 A
A
 G
G
 53 a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
others(50): Show 
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0016t0052g0099
a0002c0003t0073g0068
 53 HG00099.hp2
HG00140.hp2
HG00280.hp1
others(50): Show 
HG00099.hp2
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00621.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01099.hp2
HG01106.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01361.hp1
HG01496.hp1
HG01515.hp2
HG01978.hp1
HG01981.hp2
HG02135.hp1
HG02738.hp1
HG02886.hp1
HG03491.hp1
HG03492.hp1
HG03688.hp1
HG04204.hp2
NA18906.hp2
NA18940.hp1
NA18944.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18959.hp2
NA18960.hp1
NA18962.hp2
NA18967.hp1
NA18973.hp1
NA18977.hp2
NA18979.hp1
NA19007.hp1
NA19009.hp1
NA19065.hp1
NA19070.hp1
NA19079.hp1
NA19084.hp1
NA19090.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.609-7004T>C
c.609-7004T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 638632
chr17:638732 T
T
 C
C
 30 a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
others(27): Show 
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
 30 HG01257.hp2
HG01516.hp2
HG01517.hp1
others(27): Show 
HG01257.hp2
HG01516.hp2
HG01517.hp1
HG02074.hp1
HG02109.hp1
HG03831.hp2
NA18612.hp2
NA18906.hp1
NA18945.hp1
NA18950.hp2
NA18957.hp1
NA18959.hp1
NA18961.hp2
NA18962.hp1
NA18977.hp1
NA18978.hp1
NA18984.hp1
NA18986.hp2
NA18990.hp1
NA18994.hp1
NA19011.hp2
NA19060.hp1
NA19064.hp1
NA19068.hp1
NA19080.hp1
NA19081.hp1
NA19087.hp2
NA19091.hp2
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.609-7104A>G
c.609-7104A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 638732
chr17:638765 G
G
 C
C
 4 a0001c0001t0032g0114
a0001c0001t0095g0145
a0001c0001t0096g0146
others(1): Show 
a0001c0001t0032g0114
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0098g0147
 4 HG02818.hp2
HG02895.hp1
HG03225.hp2
others(1): Show 
HG02818.hp2
HG02895.hp1
HG03225.hp2
NA20300.hp2
 intron_variant MODIFIER c.609-7137C>G
c.609-7137C>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 638765
chr17:638782 T
T
 C
C
 11 a0001c0002t0078g0041
a0001c0005t0010g0008
a0001c0005t0019g0006
others(8): Show 
a0001c0002t0078g0041
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
 11 HG02135.hp2
HG02602.hp1
HG03516.hp2
others(8): Show 
HG02135.hp2
HG02602.hp1
HG03516.hp2
NA18747.hp1
NA18955.hp2
NA18960.hp2
NA18994.hp2
NA19000.hp2
NA19010.hp2
NA19087.hp1
NA19091.hp1
 intron_variant MODIFIER c.609-7154A>G
c.609-7154A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 638782
chr17:638980 G
G
 C
C
 53 a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
others(50): Show 
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0016t0052g0099
a0002c0003t0073g0068
 53 HG00099.hp2
HG00140.hp2
HG00280.hp1
others(50): Show 
HG00099.hp2
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00621.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01099.hp2
HG01106.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01361.hp1
HG01496.hp1
HG01515.hp2
HG01978.hp1
HG01981.hp2
HG02135.hp1
HG02738.hp1
HG02886.hp1
HG03491.hp1
HG03492.hp1
HG03688.hp1
HG04204.hp2
NA18906.hp2
NA18940.hp1
NA18944.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18959.hp2
NA18960.hp1
NA18962.hp2
NA18967.hp1
NA18973.hp1
NA18977.hp2
NA18979.hp1
NA19007.hp1
NA19009.hp1
NA19065.hp1
NA19070.hp1
NA19079.hp1
NA19084.hp1
NA19090.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.609-7352C>G
c.609-7352C>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 638980
chr17:639016 C
C
 G
G
 1 a0001c0006t0057g0103
a0001c0006t0057g0103
 1 HG00280.hp2
HG00280.hp2
 intron_variant MODIFIER c.609-7388G>C
c.609-7388G>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 639016
chr17:639058 A
A
 C
C
 230 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(227): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0017g0158
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0032g0114
a0001c0001t0032g0204
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0034g0126
a0001c0001t0034g0162
a0001c0001t0069g0012
a0001c0001t0084g0046
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0097g0199
a0001c0001t0098g0147
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0105g0201
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0108g0148
a0001c0001t0110g0127
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0118g0195
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0122g0160
a0001c0001t0123g0123
a0001c0001t0127g0159
a0001c0001t0128g0132
a0001c0001t0134g0154
a0001c0001t0138g0161
a0001c0001t0141g0165
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0001g0094
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0017g0225
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0035g0219
a0001c0002t0038g0224
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0050g0049
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0065g0093
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0077g0095
a0001c0002t0078g0041
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0002t0086g0221
a0001c0002t0100g0223
a0001c0002t0109g0222
a0001c0002t0125g0116
a0001c0002t0143g0226
a0001c0002t0149g0202
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0001c0011t0051g0091
a0001c0014t0135g0166
a0001c0015t0126g0149
a0001c0016t0052g0099
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0017g0179
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0018g0231
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0073g0068
a0002c0003t0085g0184
a0002c0003t0089g0175
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0099g0192
a0002c0003t0104g0208
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0145g0187
a0002c0003t0146g0170
a0002c0003t0148g0174
a0002c0003t0150g0191
a0002c0010t0038g0156
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
a0004c0008t0035g0203
a0004c0008t0036g0207
a0004c0008t0103g0227
a0004c0008t0124g0229
a0004c0008t0133g0232
a0004c0008t0142g0228
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
a0006c0012t0129g0140
a0007c0013t0132g0163
 230 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(227): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00621.hp1
HG00621.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02056.hp1
HG02056.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18955.hp1
NA18955.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18967.hp1
NA18967.hp2
NA18973.hp1
NA18973.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18990.hp1
NA18990.hp2
NA18994.hp1
NA18994.hp2
NA19000.hp1
NA19000.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19087.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.609-7430T>G
c.609-7430T>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 639058
chr17:639123 C
C
 T
T
 1 a0007c0013t0132g0163
a0007c0013t0132g0163
 1 HG04204.hp1
HG04204.hp1
 intron_variant MODIFIER c.609-7495G>A
c.609-7495G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 639123
chr17:639138 A
A
 G
G
 4 a0001c0001t0032g0114
a0001c0001t0095g0145
a0001c0001t0096g0146
others(1): Show 
a0001c0001t0032g0114
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0098g0147
 4 HG02818.hp2
HG02895.hp1
HG03225.hp2
others(1): Show 
HG02818.hp2
HG02895.hp1
HG03225.hp2
NA20300.hp2
 intron_variant MODIFIER c.609-7510T>C
c.609-7510T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 639138
chr17:639270 G
G
 A
A
 11 a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
others(8): Show 
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0016t0052g0099
 11 HG00099.hp2
HG00280.hp2
HG01099.hp2
others(8): Show 
HG00099.hp2
HG00280.hp2
HG01099.hp2
HG01168.hp2
HG01175.hp1
HG01515.hp2
HG01981.hp2
HG03491.hp1
HG03492.hp1
HG03688.hp1
NA18948.hp1
 intron_variant MODIFIER c.609-7642C>T
c.609-7642C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 639270
chr17:639374 A
A
 G
G
 1 a0001c0002t0050g0049
a0001c0002t0050g0049
 1 HG02280.hp1
HG02280.hp1
 intron_variant MODIFIER c.609-7746T>C
c.609-7746T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 639374
chr17:639699 G
G
 A
A
 1 a0001c0002t0078g0041
a0001c0002t0078g0041
 1 HG03516.hp2
HG03516.hp2
 intron_variant MODIFIER c.609-8071C>T
c.609-8071C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 639699
chr17:639811 C
C
 T
T
 1 a0001c0002t0014g0077
a0001c0002t0014g0077
 1 NA18967.hp1
NA18967.hp1
 intron_variant MODIFIER c.609-8183G>A
c.609-8183G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 639811
chr17:639876 A
A
 G
G
 68 a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
others(65): Show 
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0001g0094
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0065g0093
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0077g0095
a0001c0002t0078g0041
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0011t0051g0091
a0001c0016t0052g0099
a0002c0003t0073g0068
 68 HG00099.hp2
HG00140.hp2
HG00280.hp1
others(65): Show 
HG00099.hp2
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00621.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01099.hp2
HG01106.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01361.hp1
HG01496.hp1
HG01515.hp2
HG01978.hp1
HG01981.hp2
HG02135.hp1
HG02135.hp2
HG02602.hp1
HG02738.hp1
HG02886.hp1
HG03491.hp1
HG03492.hp1
HG03516.hp2
HG03688.hp1
HG04204.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp2
NA18940.hp1
NA18944.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18955.hp2
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18962.hp2
NA18967.hp1
NA18973.hp1
NA18977.hp2
NA18979.hp1
NA18984.hp2
NA18994.hp2
NA19000.hp2
NA19007.hp1
NA19009.hp1
NA19010.hp2
NA19064.hp2
NA19065.hp1
NA19070.hp1
NA19079.hp1
NA19084.hp1
NA19087.hp1
NA19090.hp1
NA19091.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.609-8248T>C
c.609-8248T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 639876
chr17:640206 C
C
 A
A
 3 a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0106g0117
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0106g0117
 3 HG01884.hp2
HG02109.hp2
HG02280.hp2
HG01884.hp2
HG02109.hp2
HG02280.hp2
 intron_variant MODIFIER c.609-8578G>T
c.609-8578G>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 640206
chr17:640355 C
C
 T
T
 53 a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
others(50): Show 
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0016t0052g0099
a0002c0003t0073g0068
 53 HG00099.hp2
HG00140.hp2
HG00280.hp1
others(50): Show 
HG00099.hp2
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00621.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01099.hp2
HG01106.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01361.hp1
HG01496.hp1
HG01515.hp2
HG01978.hp1
HG01981.hp2
HG02135.hp1
HG02738.hp1
HG02886.hp1
HG03491.hp1
HG03492.hp1
HG03688.hp1
HG04204.hp2
NA18906.hp2
NA18940.hp1
NA18944.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18959.hp2
NA18960.hp1
NA18962.hp2
NA18967.hp1
NA18973.hp1
NA18977.hp2
NA18979.hp1
NA19007.hp1
NA19009.hp1
NA19065.hp1
NA19070.hp1
NA19079.hp1
NA19084.hp1
NA19090.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.609-8727G>A
c.609-8727G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 640355
chr17:640412 C
C
 T
T
 4 a0001c0001t0032g0114
a0001c0001t0095g0145
a0001c0001t0096g0146
others(1): Show 
a0001c0001t0032g0114
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0098g0147
 4 HG02818.hp2
HG02895.hp1
HG03225.hp2
others(1): Show 
HG02818.hp2
HG02895.hp1
HG03225.hp2
NA20300.hp2
 intron_variant MODIFIER c.609-8784G>A
c.609-8784G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 640412
chr17:640498 G
G
 C
C
 15 a0001c0001t0017g0158
a0001c0001t0032g0204
a0001c0001t0033g0205
others(12): Show 
a0001c0001t0017g0158
a0001c0001t0032g0204
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0034g0162
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0122g0160
a0001c0001t0127g0159
a0001c0001t0138g0161
a0001c0001t0141g0165
a0001c0014t0135g0166
a0001c0015t0126g0149
a0002c0010t0038g0156
a0007c0013t0132g0163
 15 HG00741.hp1
HG01106.hp2
HG01109.hp1
others(12): Show 
HG00741.hp1
HG01106.hp2
HG01109.hp1
HG01257.hp1
HG01258.hp2
HG01891.hp1
HG02572.hp1
HG02723.hp1
HG02886.hp2
HG02895.hp2
HG02922.hp1
HG03225.hp1
HG04204.hp1
NA20129.hp1
NA21309.hp1
 intron_variant MODIFIER c.609-8870C>G
c.609-8870C>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 640498
chr17:640580 C
C
 T
T
 15 a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
others(12): Show 
a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0002t0078g0041
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0011t0051g0091
 15 HG01074.hp2
HG02135.hp2
HG02602.hp1
others(12): Show 
HG01074.hp2
HG02135.hp2
HG02602.hp1
HG03516.hp2
NA18747.hp1
NA18747.hp2
NA18955.hp2
NA18960.hp2
NA18984.hp2
NA18994.hp2
NA19000.hp2
NA19010.hp2
NA19064.hp2
NA19087.hp1
NA19091.hp1
 intron_variant MODIFIER c.609-8952G>A
c.609-8952G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 640580
chr17:640728 T
T
 G
G
 1 a0001c0001t0015g0135
a0001c0001t0015g0135
 1 NA18961.hp1
NA18961.hp1
 intron_variant MODIFIER c.609-9100A>C
c.609-9100A>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 640728
chr17:640876 C
C
 T
T
 30 a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
others(27): Show 
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
 30 HG01257.hp2
HG01516.hp2
HG01517.hp1
others(27): Show 
HG01257.hp2
HG01516.hp2
HG01517.hp1
HG02074.hp1
HG02109.hp1
HG03831.hp2
NA18612.hp2
NA18906.hp1
NA18945.hp1
NA18950.hp2
NA18957.hp1
NA18959.hp1
NA18961.hp2
NA18962.hp1
NA18977.hp1
NA18978.hp1
NA18984.hp1
NA18986.hp2
NA18990.hp1
NA18994.hp1
NA19011.hp2
NA19060.hp1
NA19064.hp1
NA19068.hp1
NA19080.hp1
NA19081.hp1
NA19087.hp2
NA19091.hp2
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.609-9248G>A
c.609-9248G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 640876
chr17:640999 C
C
 T
T
 229 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(226): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0017g0158
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0032g0114
a0001c0001t0032g0204
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0034g0126
a0001c0001t0034g0162
a0001c0001t0069g0012
a0001c0001t0084g0046
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0097g0199
a0001c0001t0098g0147
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0105g0201
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0108g0148
a0001c0001t0110g0127
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0118g0195
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0122g0160
a0001c0001t0123g0123
a0001c0001t0128g0132
a0001c0001t0134g0154
a0001c0001t0138g0161
a0001c0001t0141g0165
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0001g0094
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0017g0225
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0035g0219
a0001c0002t0038g0224
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0050g0049
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0065g0093
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0077g0095
a0001c0002t0078g0041
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0002t0086g0221
a0001c0002t0100g0223
a0001c0002t0109g0222
a0001c0002t0125g0116
a0001c0002t0143g0226
a0001c0002t0149g0202
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0001c0011t0051g0091
a0001c0014t0135g0166
a0001c0015t0126g0149
a0001c0016t0052g0099
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0017g0179
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0018g0231
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0073g0068
a0002c0003t0085g0184
a0002c0003t0089g0175
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0099g0192
a0002c0003t0104g0208
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0145g0187
a0002c0003t0146g0170
a0002c0003t0148g0174
a0002c0003t0150g0191
a0002c0010t0038g0156
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
a0004c0008t0035g0203
a0004c0008t0036g0207
a0004c0008t0103g0227
a0004c0008t0124g0229
a0004c0008t0133g0232
a0004c0008t0142g0228
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
a0006c0012t0129g0140
a0007c0013t0132g0163
 229 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(226): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00621.hp1
HG00621.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02056.hp1
HG02056.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18955.hp1
NA18955.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18967.hp1
NA18967.hp2
NA18973.hp1
NA18973.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18990.hp1
NA18990.hp2
NA18994.hp1
NA18994.hp2
NA19000.hp1
NA19000.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19087.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.609-9371G>A
c.609-9371G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 640999
chr17:641012 G
G
 A
A
 5 a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
others(2): Show 
a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0005t0080g0092
a0001c0011t0051g0091
 5 HG01074.hp2
NA18747.hp2
NA18955.hp2
others(2): Show 
HG01074.hp2
NA18747.hp2
NA18955.hp2
NA18984.hp2
NA19064.hp2
 intron_variant MODIFIER c.609-9384C>T
c.609-9384C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 641012
chr17:641103 A
A
 G
G
 68 a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
others(65): Show 
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0001g0094
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0065g0093
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0077g0095
a0001c0002t0078g0041
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0011t0051g0091
a0001c0016t0052g0099
a0002c0003t0073g0068
 68 HG00099.hp2
HG00140.hp2
HG00280.hp1
others(65): Show 
HG00099.hp2
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00621.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01099.hp2
HG01106.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01361.hp1
HG01496.hp1
HG01515.hp2
HG01978.hp1
HG01981.hp2
HG02135.hp1
HG02135.hp2
HG02602.hp1
HG02738.hp1
HG02886.hp1
HG03491.hp1
HG03492.hp1
HG03516.hp2
HG03688.hp1
HG04204.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp2
NA18940.hp1
NA18944.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18955.hp2
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18962.hp2
NA18967.hp1
NA18973.hp1
NA18977.hp2
NA18979.hp1
NA18984.hp2
NA18994.hp2
NA19000.hp2
NA19007.hp1
NA19009.hp1
NA19010.hp2
NA19064.hp2
NA19065.hp1
NA19070.hp1
NA19079.hp1
NA19084.hp1
NA19087.hp1
NA19090.hp1
NA19091.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.609-9475T>C
c.609-9475T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 641103
chr17:641147 C
C
 T
T
 1 a0001c0001t0106g0117
a0001c0001t0106g0117
 1 HG02109.hp2
HG02109.hp2
 intron_variant MODIFIER c.609-9519G>A
c.609-9519G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 641147
chr17:641148 G
G
 A
A
 2 a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0021g0100
a0001c0006t0021g0101
 2 HG03491.hp1
HG03492.hp1
HG03491.hp1
HG03492.hp1
 intron_variant MODIFIER c.609-9520C>T
c.609-9520C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 641148
chr17:641204 C
C
 T
T
 30 a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
others(27): Show 
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
 30 HG01257.hp2
HG01516.hp2
HG01517.hp1
others(27): Show 
HG01257.hp2
HG01516.hp2
HG01517.hp1
HG02074.hp1
HG02109.hp1
HG03831.hp2
NA18612.hp2
NA18906.hp1
NA18945.hp1
NA18950.hp2
NA18957.hp1
NA18959.hp1
NA18961.hp2
NA18962.hp1
NA18977.hp1
NA18978.hp1
NA18984.hp1
NA18986.hp2
NA18990.hp1
NA18994.hp1
NA19011.hp2
NA19060.hp1
NA19064.hp1
NA19068.hp1
NA19080.hp1
NA19081.hp1
NA19087.hp2
NA19091.hp2
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.609-9576G>A
c.609-9576G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 641204
chr17:641348 A
A
 G
G
 1 a0001c0001t0114g0142
a0001c0001t0114g0142
 1 HG02602.hp2
HG02602.hp2
 intron_variant MODIFIER c.609-9720T>C
c.609-9720T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 641348
chr17:641357 T
T
 C
C
 2 a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0030g0119
a0001c0001t0030g0120
 2 HG01884.hp2
HG02280.hp2
HG01884.hp2
HG02280.hp2
 intron_variant MODIFIER c.609-9729A>G
c.609-9729A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 641357
chr17:641377 C
C
 T
T
 53 a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
others(50): Show 
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0016t0052g0099
a0002c0003t0073g0068
 53 HG00099.hp2
HG00140.hp2
HG00280.hp1
others(50): Show 
HG00099.hp2
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00621.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01099.hp2
HG01106.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01361.hp1
HG01496.hp1
HG01515.hp2
HG01978.hp1
HG01981.hp2
HG02135.hp1
HG02738.hp1
HG02886.hp1
HG03491.hp1
HG03492.hp1
HG03688.hp1
HG04204.hp2
NA18906.hp2
NA18940.hp1
NA18944.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18959.hp2
NA18960.hp1
NA18962.hp2
NA18967.hp1
NA18973.hp1
NA18977.hp2
NA18979.hp1
NA19007.hp1
NA19009.hp1
NA19065.hp1
NA19070.hp1
NA19079.hp1
NA19084.hp1
NA19090.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.609-9749G>A
c.609-9749G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 641377
chr17:641507 C
C
 T
T
 14 a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
others(11): Show 
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0097g0199
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0105g0201
a0001c0001t0118g0195
a0001c0001t0134g0154
 14 HG01109.hp2
HG01346.hp2
HG01884.hp1
others(11): Show 
HG01109.hp2
HG01346.hp2
HG01884.hp1
HG01891.hp2
HG02572.hp2
HG02622.hp1
HG02622.hp2
HG02723.hp2
HG02818.hp1
HG02922.hp2
HG03139.hp1
HG03139.hp2
NA20129.hp2
NA20300.hp1
 intron_variant MODIFIER c.609-9879G>A
c.609-9879G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 641507
chr17:641513 T
T
 C
C
 30 a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
others(27): Show 
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
 30 HG01257.hp2
HG01516.hp2
HG01517.hp1
others(27): Show 
HG01257.hp2
HG01516.hp2
HG01517.hp1
HG02074.hp1
HG02109.hp1
HG03831.hp2
NA18612.hp2
NA18906.hp1
NA18945.hp1
NA18950.hp2
NA18957.hp1
NA18959.hp1
NA18961.hp2
NA18962.hp1
NA18977.hp1
NA18978.hp1
NA18984.hp1
NA18986.hp2
NA18990.hp1
NA18994.hp1
NA19011.hp2
NA19060.hp1
NA19064.hp1
NA19068.hp1
NA19080.hp1
NA19081.hp1
NA19087.hp2
NA19091.hp2
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.609-9885A>G
c.609-9885A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 641513
chr17:641752 A
A
 G
G
 30 a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
others(27): Show 
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
 30 HG01257.hp2
HG01516.hp2
HG01517.hp1
others(27): Show 
HG01257.hp2
HG01516.hp2
HG01517.hp1
HG02074.hp1
HG02109.hp1
HG03831.hp2
NA18612.hp2
NA18906.hp1
NA18945.hp1
NA18950.hp2
NA18957.hp1
NA18959.hp1
NA18961.hp2
NA18962.hp1
NA18977.hp1
NA18978.hp1
NA18984.hp1
NA18986.hp2
NA18990.hp1
NA18994.hp1
NA19011.hp2
NA19060.hp1
NA19064.hp1
NA19068.hp1
NA19080.hp1
NA19081.hp1
NA19087.hp2
NA19091.hp2
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.609-10124T>C
c.609-10124T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 641752
chr17:642015 G
G
 A
A
 1 a0001c0001t0118g0195
a0001c0001t0118g0195
 1 HG01346.hp2
HG01346.hp2
 intron_variant MODIFIER c.609-10387C>T
c.609-10387C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 642015
chr17:642132 C
C
 T
T
 1 a0001c0001t0098g0147
a0001c0001t0098g0147
 1 HG02818.hp2
HG02818.hp2
 intron_variant MODIFIER c.609-10504G>A
c.609-10504G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 642132
chr17:642350 G
G
 C
C
 1 a0001c0001t0084g0046
a0001c0001t0084g0046
 1 HG03516.hp1
HG03516.hp1
 intron_variant MODIFIER c.609-10722C>G
c.609-10722C>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 642350
chr17:642351 C
C
 T
T
 1 a0001c0001t0084g0046
a0001c0001t0084g0046
 1 HG03516.hp1
HG03516.hp1
 intron_variant MODIFIER c.609-10723G>A
c.609-10723G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 642351
chr17:642394 C
C
 T
T
 1 a0001c0001t0002g0210
a0001c0001t0002g0210
 1 NA18940.hp2
NA18940.hp2
 intron_variant MODIFIER c.609-10766G>A
c.609-10766G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 642394
chr17:642396 C
C
 T
T
 230 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(227): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0017g0158
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0032g0114
a0001c0001t0032g0204
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0034g0126
a0001c0001t0034g0162
a0001c0001t0069g0012
a0001c0001t0084g0046
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0097g0199
a0001c0001t0098g0147
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0105g0201
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0108g0148
a0001c0001t0110g0127
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0118g0195
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0122g0160
a0001c0001t0123g0123
a0001c0001t0127g0159
a0001c0001t0128g0132
a0001c0001t0134g0154
a0001c0001t0138g0161
a0001c0001t0141g0165
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0001g0094
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0017g0225
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0035g0219
a0001c0002t0038g0224
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0050g0049
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0065g0093
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0077g0095
a0001c0002t0078g0041
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0002t0086g0221
a0001c0002t0100g0223
a0001c0002t0109g0222
a0001c0002t0125g0116
a0001c0002t0143g0226
a0001c0002t0149g0202
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0001c0011t0051g0091
a0001c0014t0135g0166
a0001c0015t0126g0149
a0001c0016t0052g0099
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0017g0179
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0018g0231
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0073g0068
a0002c0003t0085g0184
a0002c0003t0089g0175
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0099g0192
a0002c0003t0104g0208
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0145g0187
a0002c0003t0146g0170
a0002c0003t0148g0174
a0002c0003t0150g0191
a0002c0010t0038g0156
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
a0004c0008t0035g0203
a0004c0008t0036g0207
a0004c0008t0103g0227
a0004c0008t0124g0229
a0004c0008t0133g0232
a0004c0008t0142g0228
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
a0006c0012t0129g0140
a0007c0013t0132g0163
 230 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(227): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00621.hp1
HG00621.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02056.hp1
HG02056.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18955.hp1
NA18955.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18967.hp1
NA18967.hp2
NA18973.hp1
NA18973.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18990.hp1
NA18990.hp2
NA18994.hp1
NA18994.hp2
NA19000.hp1
NA19000.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19087.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.609-10768G>A
c.609-10768G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 642396
chr17:642402 C
C
 G
G
 30 a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
others(27): Show 
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
 30 HG01257.hp2
HG01516.hp2
HG01517.hp1
others(27): Show 
HG01257.hp2
HG01516.hp2
HG01517.hp1
HG02074.hp1
HG02109.hp1
HG03831.hp2
NA18612.hp2
NA18906.hp1
NA18945.hp1
NA18950.hp2
NA18957.hp1
NA18959.hp1
NA18961.hp2
NA18962.hp1
NA18977.hp1
NA18978.hp1
NA18984.hp1
NA18986.hp2
NA18990.hp1
NA18994.hp1
NA19011.hp2
NA19060.hp1
NA19064.hp1
NA19068.hp1
NA19080.hp1
NA19081.hp1
NA19087.hp2
NA19091.hp2
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.609-10774G>C
c.609-10774G>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 642402
chr17:642451 C
C
 A
A
 4 a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
others(1): Show 
a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0005t0080g0092
 4 NA18747.hp2
NA18955.hp2
NA18984.hp2
others(1): Show 
NA18747.hp2
NA18955.hp2
NA18984.hp2
NA19064.hp2
 intron_variant MODIFIER c.609-10823G>T
c.609-10823G>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 642451
chr17:642454 C
C
 G
G
 4 a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
others(1): Show 
a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0005t0080g0092
 4 NA18747.hp2
NA18955.hp2
NA18984.hp2
others(1): Show 
NA18747.hp2
NA18955.hp2
NA18984.hp2
NA19064.hp2
 intron_variant MODIFIER c.609-10826G>C
c.609-10826G>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 642454
chr17:642455 T
T
 C
C
 4 a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
others(1): Show 
a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0005t0080g0092
 4 NA18747.hp2
NA18955.hp2
NA18984.hp2
others(1): Show 
NA18747.hp2
NA18955.hp2
NA18984.hp2
NA19064.hp2
 intron_variant MODIFIER c.609-10827A>G
c.609-10827A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 642455
chr17:642455 T
T
 TGAGGACA
others(71): Show 
TGAGGACAACACTCATACTTGGAAACCGAGGACAACACTCATACTTGGAA
AGCGAGGACAACACTCATACTTGGAAAGC
 3 a0001c0001t0017g0158
a0001c0001t0034g0162
a0001c0001t0141g0165
a0001c0001t0017g0158
a0001c0001t0034g0162
a0001c0001t0141g0165
 3 HG00741.hp1
HG01106.hp2
HG01109.hp1
HG00741.hp1
HG01106.hp2
HG01109.hp1
 intron_variant MODIFIER c.608+10758_609-1082
others(82): Show 
c.608+10758_609-10828dupGCTTTCCAAGTATGAGTGTTGTCCTC
GCTTTCCAAGTATGAGTGTTGTCCTCGGTTTCCAAGTATGAGTGTTGTCC
TC
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 642455
chr17:642455 TGAGGACA
others(513): Show 
TGAGGACAACACTCATACTTGGAAACCGAGGACAACACTCATACTTGGAA
AGCGAGGACAACACTCATACTTGGAAAGCGAGGACAACACTCATACTTGG
AAATCAAGGACAACACTCATACTTGGCAACTGAGGACAACACTCATACTT
GGCAACTGGGGACAACACTCATACTTGGAAAGCGAGGACAACACTCATAC
TTGGAAAGCGAGGACAACACTCATACTTGGCAACCGAGGACAACACTCAT
ACTTGGCAACCGAGGACAACACTCATACTTGGAAAGCGAGGACAACACTC
ATACTTGGAAAGCGAGGACAACACTCATACTTGGAAATCAAGGACAACAC
TCATACTTGGAAAGCGAGGACAACACTCATACTTGGAAAGCGAGGACAAC
ACTCATACTTGGAAATCGAGGACAACACTCATACTTGGAAATCGAGGACA
ACACTCATACTTGGCAACCGAGGACAACACTCATACTTGGCAACCGAGGA
CAACTCTCATACTTGGAAAGC
 T
T
 9 a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
others(6): Show 
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
 9 HG02135.hp2
HG02602.hp1
NA18747.hp1
others(6): Show 
HG02135.hp2
HG02602.hp1
NA18747.hp1
NA18960.hp2
NA18994.hp2
NA19000.hp2
NA19010.hp2
NA19087.hp1
NA19091.hp1
 intron_variant MODIFIER c.608+10316_609-1082
others(4): Show 
c.608+10316_609-10828del
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 642455
chr17:642480 C
C
 CCGAGGAC
others(71): Show 
CCGAGGACAACACTCATACTTGGAAAGCGAGGACAACACTCATACTTGGA
AAGCGAGGACAACACTCATACTTGGAAAG
 2 a0001c0001t0122g0160
a0001c0001t0138g0161
a0001c0001t0122g0160
a0001c0001t0138g0161
 2 HG01257.hp1
HG01258.hp2
HG01257.hp1
HG01258.hp2
 intron_variant MODIFIER c.608+10810_608+1081
others(82): Show 
c.608+10810_608+10811insCTTTCCAAGTATGAGTGTTGTCCTCG
CTTTCCAAGTATGAGTGTTGTCCTCGCTTTCCAAGTATGAGTGTTGTCCT
CG
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 642480
chr17:642480 C
C
 G
G
 1 a0002c0003t0093g0173
a0002c0003t0093g0173
 1 HG01167.hp1
HG01167.hp1
 intron_variant MODIFIER c.608+10811G>C
c.608+10811G>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 642480
chr17:642480 C
C
 T
T
 5 a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
others(2): Show 
a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0005t0080g0092
a0001c0011t0051g0091
 5 HG01074.hp2
NA18747.hp2
NA18955.hp2
others(2): Show 
HG01074.hp2
NA18747.hp2
NA18955.hp2
NA18984.hp2
NA19064.hp2
 intron_variant MODIFIER c.608+10811G>A
c.608+10811G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 642480
chr17:642507 C
C
 T
T
 6 a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
others(3): Show 
a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0002t0078g0041
a0001c0005t0080g0092
a0001c0011t0051g0091
 6 HG01074.hp2
HG03516.hp2
NA18747.hp2
others(3): Show 
HG01074.hp2
HG03516.hp2
NA18747.hp2
NA18955.hp2
NA18984.hp2
NA19064.hp2
 intron_variant MODIFIER c.608+10784G>A
c.608+10784G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 642507
chr17:642581 C
C
 A
A
 17 a0002c0003t0017g0179
a0002c0003t0018g0172
a0002c0003t0018g0214
others(14): Show 
a0002c0003t0017g0179
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0089g0175
a0002c0003t0131g0193
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0146g0170
a0002c0003t0148g0174
a0004c0008t0036g0207
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
 17 HG00323.hp2
HG00423.hp1
HG00621.hp1
others(14): Show 
HG00323.hp2
HG00423.hp1
HG00621.hp1
HG01070.hp2
HG01071.hp1
HG02074.hp2
HG02129.hp1
HG02132.hp1
HG02738.hp2
NA18946.hp1
NA18955.hp1
NA18957.hp2
NA18979.hp2
NA18983.hp1
NA18986.hp1
NA19066.hp2
NA19090.hp2
 intron_variant MODIFIER c.608+10710G>T
c.608+10710G>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 642581
chr17:642584 C
C
 T
T
 17 a0002c0003t0017g0179
a0002c0003t0018g0172
a0002c0003t0018g0214
others(14): Show 
a0002c0003t0017g0179
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0089g0175
a0002c0003t0131g0193
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0146g0170
a0002c0003t0148g0174
a0004c0008t0036g0207
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
 17 HG00323.hp2
HG00423.hp1
HG00621.hp1
others(14): Show 
HG00323.hp2
HG00423.hp1
HG00621.hp1
HG01070.hp2
HG01071.hp1
HG02074.hp2
HG02129.hp1
HG02132.hp1
HG02738.hp2
NA18946.hp1
NA18955.hp1
NA18957.hp2
NA18979.hp2
NA18983.hp1
NA18986.hp1
NA19066.hp2
NA19090.hp2
 intron_variant MODIFIER c.608+10707G>A
c.608+10707G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 642584
chr17:642585 T
T
 C
C
 17 a0002c0003t0017g0179
a0002c0003t0018g0172
a0002c0003t0018g0214
others(14): Show 
a0002c0003t0017g0179
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0089g0175
a0002c0003t0131g0193
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0146g0170
a0002c0003t0148g0174
a0004c0008t0036g0207
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
 17 HG00323.hp2
HG00423.hp1
HG00621.hp1
others(14): Show 
HG00323.hp2
HG00423.hp1
HG00621.hp1
HG01070.hp2
HG01071.hp1
HG02074.hp2
HG02129.hp1
HG02132.hp1
HG02738.hp2
NA18946.hp1
NA18955.hp1
NA18957.hp2
NA18979.hp2
NA18983.hp1
NA18986.hp1
NA19066.hp2
NA19090.hp2
 intron_variant MODIFIER c.608+10706A>G
c.608+10706A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 642585
chr17:642586 G
G
 A
A
 17 a0002c0003t0017g0179
a0002c0003t0018g0172
a0002c0003t0018g0214
others(14): Show 
a0002c0003t0017g0179
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0089g0175
a0002c0003t0131g0193
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0146g0170
a0002c0003t0148g0174
a0004c0008t0036g0207
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
 17 HG00323.hp2
HG00423.hp1
HG00621.hp1
others(14): Show 
HG00323.hp2
HG00423.hp1
HG00621.hp1
HG01070.hp2
HG01071.hp1
HG02074.hp2
HG02129.hp1
HG02132.hp1
HG02738.hp2
NA18946.hp1
NA18955.hp1
NA18957.hp2
NA18979.hp2
NA18983.hp1
NA18986.hp1
NA19066.hp2
NA19090.hp2
 intron_variant MODIFIER c.608+10705C>T
c.608+10705C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 642586
chr17:642633 A
A
 C
C
 5 a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
others(2): Show 
a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0005t0080g0092
a0001c0011t0051g0091
 5 HG01074.hp2
NA18747.hp2
NA18955.hp2
others(2): Show 
HG01074.hp2
NA18747.hp2
NA18955.hp2
NA18984.hp2
NA19064.hp2
 intron_variant MODIFIER c.608+10658T>G
c.608+10658T>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 642633
chr17:642636 G
G
 C
C
 5 a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
others(2): Show 
a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0005t0080g0092
a0001c0011t0051g0091
 5 HG01074.hp2
NA18747.hp2
NA18955.hp2
others(2): Show 
HG01074.hp2
NA18747.hp2
NA18955.hp2
NA18984.hp2
NA19064.hp2
 intron_variant MODIFIER c.608+10655C>G
c.608+10655C>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 642636
chr17:642637 C
C
 T
T
 5 a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
others(2): Show 
a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0005t0080g0092
a0001c0011t0051g0091
 5 HG01074.hp2
NA18747.hp2
NA18955.hp2
others(2): Show 
HG01074.hp2
NA18747.hp2
NA18955.hp2
NA18984.hp2
NA19064.hp2
 intron_variant MODIFIER c.608+10654G>A
c.608+10654G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 642637
chr17:642639 A
A
 G
G
 5 a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
others(2): Show 
a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0005t0080g0092
a0001c0011t0051g0091
 5 HG01074.hp2
NA18747.hp2
NA18955.hp2
others(2): Show 
HG01074.hp2
NA18747.hp2
NA18955.hp2
NA18984.hp2
NA19064.hp2
 intron_variant MODIFIER c.608+10652T>C
c.608+10652T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 642639
chr17:642685 C
C
 A
A
 6 a0001c0001t0084g0046
a0001c0002t0001g0094
a0001c0002t0065g0093
others(3): Show 
a0001c0001t0084g0046
a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0005t0080g0092
a0001c0011t0051g0091
 6 HG01074.hp2
HG03516.hp1
NA18747.hp2
others(3): Show 
HG01074.hp2
HG03516.hp1
NA18747.hp2
NA18955.hp2
NA18984.hp2
NA19064.hp2
 intron_variant MODIFIER c.608+10606G>T
c.608+10606G>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 642685
chr17:642688 C
C
 G
G
 6 a0001c0001t0084g0046
a0001c0002t0001g0094
a0001c0002t0065g0093
others(3): Show 
a0001c0001t0084g0046
a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0005t0080g0092
a0001c0011t0051g0091
 6 HG01074.hp2
HG03516.hp1
NA18747.hp2
others(3): Show 
HG01074.hp2
HG03516.hp1
NA18747.hp2
NA18955.hp2
NA18984.hp2
NA19064.hp2
 intron_variant MODIFIER c.608+10603G>C
c.608+10603G>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 642688
chr17:642711 C
C
 A
A
 1 a0001c0002t0010g0087
a0001c0002t0010g0087
 1 NA19084.hp1
NA19084.hp1
 intron_variant MODIFIER c.608+10580G>T
c.608+10580G>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 642711
chr17:642714 C
C
 G
G
 1 a0001c0002t0010g0087
a0001c0002t0010g0087
 1 NA19084.hp1
NA19084.hp1
 intron_variant MODIFIER c.608+10577G>C
c.608+10577G>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 642714
chr17:642737 A
A
 C
C
 5 a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
others(2): Show 
a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0005t0080g0092
a0001c0011t0051g0091
 5 HG01074.hp2
NA18747.hp2
NA18955.hp2
others(2): Show 
HG01074.hp2
NA18747.hp2
NA18955.hp2
NA18984.hp2
NA19064.hp2
 intron_variant MODIFIER c.608+10554T>G
c.608+10554T>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 642737
chr17:642740 G
G
 C
C
 5 a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
others(2): Show 
a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0005t0080g0092
a0001c0011t0051g0091
 5 HG01074.hp2
NA18747.hp2
NA18955.hp2
others(2): Show 
HG01074.hp2
NA18747.hp2
NA18955.hp2
NA18984.hp2
NA19064.hp2
 intron_variant MODIFIER c.608+10551C>G
c.608+10551C>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 642740
chr17:642766 G
G
 T
T
 18 a0001c0002t0010g0087
a0002c0003t0017g0179
a0002c0003t0018g0172
others(15): Show 
a0001c0002t0010g0087
a0002c0003t0017g0179
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0089g0175
a0002c0003t0131g0193
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0146g0170
a0002c0003t0148g0174
a0004c0008t0036g0207
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
 18 HG00323.hp2
HG00423.hp1
HG00621.hp1
others(15): Show 
HG00323.hp2
HG00423.hp1
HG00621.hp1
HG01070.hp2
HG01071.hp1
HG02074.hp2
HG02129.hp1
HG02132.hp1
HG02738.hp2
NA18946.hp1
NA18955.hp1
NA18957.hp2
NA18979.hp2
NA18983.hp1
NA18986.hp1
NA19066.hp2
NA19084.hp1
NA19090.hp2
 intron_variant MODIFIER c.608+10525C>A
c.608+10525C>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 642766
chr17:642768 G
G
 A
A
 18 a0001c0001t0087g0198
a0002c0003t0017g0179
a0002c0003t0018g0172
others(15): Show 
a0001c0001t0087g0198
a0002c0003t0017g0179
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0089g0175
a0002c0003t0131g0193
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0146g0170
a0002c0003t0148g0174
a0004c0008t0036g0207
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
 18 HG00323.hp2
HG00423.hp1
HG00621.hp1
others(15): Show 
HG00323.hp2
HG00423.hp1
HG00621.hp1
HG01070.hp2
HG01071.hp1
HG02074.hp2
HG02129.hp1
HG02132.hp1
HG02738.hp2
HG02818.hp1
NA18946.hp1
NA18955.hp1
NA18957.hp2
NA18979.hp2
NA18983.hp1
NA18986.hp1
NA19066.hp2
NA19090.hp2
 intron_variant MODIFIER c.608+10523C>T
c.608+10523C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 642768
chr17:642792 T
T
 G
G
 22 a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
others(19): Show 
a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0005t0080g0092
a0001c0011t0051g0091
a0002c0003t0017g0179
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0089g0175
a0002c0003t0131g0193
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0146g0170
a0002c0003t0148g0174
a0004c0008t0036g0207
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
 22 HG00323.hp2
HG00423.hp1
HG00621.hp1
others(19): Show 
HG00323.hp2
HG00423.hp1
HG00621.hp1
HG01070.hp2
HG01071.hp1
HG01074.hp2
HG02074.hp2
HG02129.hp1
HG02132.hp1
HG02738.hp2
NA18747.hp2
NA18946.hp1
NA18955.hp1
NA18955.hp2
NA18957.hp2
NA18979.hp2
NA18983.hp1
NA18984.hp2
NA18986.hp1
NA19064.hp2
NA19066.hp2
NA19090.hp2
 intron_variant MODIFIER c.608+10499A>C
c.608+10499A>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 642792
chr17:642792 TCAAGGAC
others(513): Show 
TCAAGGACAACACTCATACTTGGAAAGCGAGGACAACACTCATACTTGGA
AAGCGAGGACAACACTCATACTTGGAAATCGAGGACAACACTCATACTTG
GAAATCGAGGACAACACTCATACTTGGCAACCGAGGACAACACTCATACT
TGGCAACCGAGGACAACTCTCATACTTGGAAAGCGAGGACAACACTCATA
CTTGGAAAGCGAGGACAACACTCATACTTGGAAAGCGAGGACAACACTCA
TACTTGGAAATCAAGGACAACACTCATACTTGGCAACTGAGGACAACACT
CATACTTGGAAACCGAGGACAACACTCACACTTGGAAAGCGAGGACAACA
CTCATACTTGGAAAGCGAGGACAACACTCATACTTGGAAAGCGAGGACAA
CACTCATACTTGGCAACTGAGGACAACACTCATACTTGGAAACCGAGGAC
AACACTCATACTTGGAAAGTGAGGACAACACTCATACTTGGAAAGTGAGG
ACAACACTCATACTGGGAAAC
 T
T
 1 a0001c0002t0010g0087
a0001c0002t0010g0087
 1 NA19084.hp1
NA19084.hp1
 intron_variant MODIFIER c.608+9979_608+10498
others(3): Show 
c.608+9979_608+10498del
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 642792
chr17:642794 A
A
 AAGGACAA
others(19): Show 
AAGGACAACACTCATACTTGGAAAGCG
 2 a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0021g0100
a0001c0006t0021g0101
 2 HG03491.hp1
HG03492.hp1
HG03491.hp1
HG03492.hp1
 intron_variant MODIFIER c.608+10471_608+1049
others(30): Show 
c.608+10471_608+10496dupCGCTTTCCAAGTATGAGTGTTGTCCT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 642794
chr17:642794 A
A
 G
G
 24 a0001c0002t0001g0094
a0001c0002t0005g0065
a0001c0002t0065g0093
others(21): Show 
a0001c0002t0001g0094
a0001c0002t0005g0065
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0005t0080g0092
a0001c0011t0051g0091
a0002c0003t0017g0179
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0089g0175
a0002c0003t0131g0193
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0146g0170
a0002c0003t0148g0174
a0002c0010t0038g0156
a0004c0008t0036g0207
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
 24 HG00323.hp2
HG00423.hp1
HG00621.hp1
others(21): Show 
HG00323.hp2
HG00423.hp1
HG00621.hp1
HG01070.hp2
HG01071.hp1
HG01074.hp2
HG02074.hp2
HG02129.hp1
HG02132.hp1
HG02738.hp2
NA18747.hp2
NA18946.hp1
NA18948.hp2
NA18955.hp1
NA18955.hp2
NA18957.hp2
NA18979.hp2
NA18983.hp1
NA18984.hp2
NA18986.hp1
NA19064.hp2
NA19066.hp2
NA19090.hp2
NA21309.hp1
 intron_variant MODIFIER c.608+10497T>C
c.608+10497T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 642794
chr17:642818 G
G
 T
T
 5 a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
others(2): Show 
a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0005t0080g0092
a0001c0011t0051g0091
 5 HG01074.hp2
NA18747.hp2
NA18955.hp2
others(2): Show 
HG01074.hp2
NA18747.hp2
NA18955.hp2
NA18984.hp2
NA19064.hp2
 intron_variant MODIFIER c.608+10473C>A
c.608+10473C>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 642818
chr17:642820 G
G
 A
A
 5 a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
others(2): Show 
a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0005t0080g0092
a0001c0011t0051g0091
 5 HG01074.hp2
NA18747.hp2
NA18955.hp2
others(2): Show 
HG01074.hp2
NA18747.hp2
NA18955.hp2
NA18984.hp2
NA19064.hp2
 intron_variant MODIFIER c.608+10471C>T
c.608+10471C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 642820
chr17:642834 T
T
 A
A
 1 a0001c0001t0113g0122
a0001c0001t0113g0122
 1 HG00741.hp2
HG00741.hp2
 intron_variant MODIFIER c.608+10457A>T
c.608+10457A>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 642834
chr17:642867 A
A
 C
C
 1 a0001c0002t0109g0222
a0001c0002t0109g0222
 1 HG00099.hp1
HG00099.hp1
 intron_variant MODIFIER c.608+10424T>G
c.608+10424T>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 642867
chr17:642870 T
T
 C
C
 1 a0001c0002t0109g0222
a0001c0002t0109g0222
 1 HG00099.hp1
HG00099.hp1
 intron_variant MODIFIER c.608+10421A>G
c.608+10421A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 642870
chr17:642870 T
T
 G
G
 5 a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
others(2): Show 
a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0005t0080g0092
a0001c0011t0051g0091
 5 HG01074.hp2
NA18747.hp2
NA18955.hp2
others(2): Show 
HG01074.hp2
NA18747.hp2
NA18955.hp2
NA18984.hp2
NA19064.hp2
 intron_variant MODIFIER c.608+10421A>C
c.608+10421A>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 642870
chr17:642870 TCGAGGAC
others(435): Show 
TCGAGGACAACACTCATACTTGGAAATCGAGGACAACACTCATACTTGGC
AACCGAGGACAACACTCATACTTGGCAACCGAGGACAACTCTCATACTTG
GAAAGCGAGGACAACACTCATACTTGGAAAGCGAGGACAACACTCATACT
TGGAAAGCGAGGACAACACTCATACTTGGAAATCAAGGACAACACTCATA
CTTGGCAACTGAGGACAACACTCATACTTGGAAACCGAGGACAACACTCA
CACTTGGAAAGCGAGGACAACACTCATACTTGGAAAGCGAGGACAACACT
CATACTTGGAAAGCGAGGACAACACTCATACTTGGCAACTGAGGACAACA
CTCATACTTGGAAACCGAGGACAACACTCATACTTGGAAAGTGAGGACAA
CACTCATACTTGGAAAGTGAGGACAACACTCATACTGGGAAAC
 T
T
 1 a0001c0002t0005g0065
a0001c0002t0005g0065
 1 NA18948.hp2
NA18948.hp2
 intron_variant MODIFIER c.608+9979_608+10420
others(3): Show 
c.608+9979_608+10420del
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 642870
chr17:642871 C
C
 T
T
 1 a0001c0002t0109g0222
a0001c0002t0109g0222
 1 HG00099.hp1
HG00099.hp1
 intron_variant MODIFIER c.608+10420G>A
c.608+10420G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 642871
chr17:642872 GAGGACAA
others(175): Show 
GAGGACAACACTCATACTTGGAAATCGAGGACAACACTCATACTTGGCAA
CCGAGGACAACACTCATACTTGGCAACCGAGGACAACTCTCATACTTGGA
AAGCGAGGACAACACTCATACTTGGAAAGCGAGGACAACACTCATACTTG
GAAAGCGAGGACAACACTCATACTTGGAAATCA
 G
G
 1 a0001c0002t0109g0222
a0001c0002t0109g0222
 1 HG00099.hp1
HG00099.hp1
 intron_variant MODIFIER c.608+10237_608+1041
others(4): Show 
c.608+10237_608+10418del
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 642872
chr17:642893 A
A
 C
C
 1 a0001c0001t0084g0046
a0001c0001t0084g0046
 1 HG03516.hp1
HG03516.hp1
 intron_variant MODIFIER c.608+10398T>G
c.608+10398T>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 642893
chr17:642896 T
T
 C
C
 1 a0001c0001t0084g0046
a0001c0001t0084g0046
 1 HG03516.hp1
HG03516.hp1
 intron_variant MODIFIER c.608+10395A>G
c.608+10395A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 642896
chr17:642896 TCGAGGAC
others(409): Show 
TCGAGGACAACACTCATACTTGGCAACCGAGGACAACACTCATACTTGGC
AACCGAGGACAACTCTCATACTTGGAAAGCGAGGACAACACTCATACTTG
GAAAGCGAGGACAACACTCATACTTGGAAAGCGAGGACAACACTCATACT
TGGAAATCAAGGACAACACTCATACTTGGCAACTGAGGACAACACTCATA
CTTGGAAACCGAGGACAACACTCACACTTGGAAAGCGAGGACAACACTCA
TACTTGGAAAGCGAGGACAACACTCATACTTGGAAAGCGAGGACAACACT
CATACTTGGCAACTGAGGACAACACTCATACTTGGAAACCGAGGACAACA
CTCATACTTGGAAAGTGAGGACAACACTCATACTTGGAAAGTGAGGACAA
CACTCATACTGGGAAAC
 T
T
 39 a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
others(36): Show 
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0058g0052
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0002c0003t0073g0068
 39 HG00140.hp2
HG00280.hp1
HG00323.hp1
others(36): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp1
HG00621.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01106.hp1
HG01167.hp2
HG01168.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01361.hp1
HG01496.hp1
HG01978.hp1
HG02135.hp1
HG02738.hp1
HG02886.hp1
HG04204.hp2
NA18940.hp1
NA18944.hp1
NA18946.hp2
NA18959.hp2
NA18960.hp1
NA18962.hp2
NA18967.hp1
NA18973.hp1
NA18977.hp2
NA18979.hp1
NA19007.hp1
NA19009.hp1
NA19065.hp1
NA19070.hp1
NA19079.hp1
NA19090.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.608+9979_608+10394
others(3): Show 
c.608+9979_608+10394del
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 642896
chr17:642898 G
G
 A
A
 2 a0003c0004t0005g0027
a0003c0004t0005g0030
a0003c0004t0005g0027
a0003c0004t0005g0030
 2 NA19060.hp1
NA19081.hp1
NA19060.hp1
NA19081.hp1
 intron_variant MODIFIER c.608+10393C>T
c.608+10393C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 642898
chr17:642919 C
C
 A
A
 5 a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
others(2): Show 
a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0005t0080g0092
a0001c0011t0051g0091
 5 HG01074.hp2
NA18747.hp2
NA18955.hp2
others(2): Show 
HG01074.hp2
NA18747.hp2
NA18955.hp2
NA18984.hp2
NA19064.hp2
 intron_variant MODIFIER c.608+10372G>T
c.608+10372G>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 642919
chr17:642922 C
C
 T
T
 5 a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
others(2): Show 
a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0005t0080g0092
a0001c0011t0051g0091
 5 HG01074.hp2
NA18747.hp2
NA18955.hp2
others(2): Show 
HG01074.hp2
NA18747.hp2
NA18955.hp2
NA18984.hp2
NA19064.hp2
 intron_variant MODIFIER c.608+10369G>A
c.608+10369G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 642922
chr17:642959 T
T
 A
A
 180 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(177): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0017g0158
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0032g0114
a0001c0001t0032g0204
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0034g0126
a0001c0001t0034g0162
a0001c0001t0069g0012
a0001c0001t0084g0046
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0097g0199
a0001c0001t0098g0147
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0105g0201
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0108g0148
a0001c0001t0110g0127
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0118g0195
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0122g0160
a0001c0001t0123g0123
a0001c0001t0127g0159
a0001c0001t0128g0132
a0001c0001t0134g0154
a0001c0001t0138g0161
a0001c0001t0141g0165
a0001c0002t0001g0094
a0001c0002t0017g0225
a0001c0002t0035g0219
a0001c0002t0038g0224
a0001c0002t0049g0048
a0001c0002t0050g0049
a0001c0002t0055g0084
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0002t0078g0041
a0001c0002t0086g0221
a0001c0002t0100g0223
a0001c0002t0125g0116
a0001c0002t0143g0226
a0001c0002t0149g0202
a0001c0005t0080g0092
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0001c0011t0051g0091
a0001c0014t0135g0166
a0001c0015t0126g0149
a0001c0016t0052g0099
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0017g0179
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0018g0231
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0085g0184
a0002c0003t0089g0175
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0099g0192
a0002c0003t0104g0208
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0145g0187
a0002c0003t0146g0170
a0002c0003t0148g0174
a0002c0003t0150g0191
a0002c0010t0038g0156
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
a0004c0008t0035g0203
a0004c0008t0036g0207
a0004c0008t0103g0227
a0004c0008t0124g0229
a0004c0008t0133g0232
a0004c0008t0142g0228
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
a0006c0012t0129g0140
a0007c0013t0132g0163
 180 HG00099.hp2
HG00140.hp1
HG00280.hp2
others(177): Show 
HG00099.hp2
HG00140.hp1
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00621.hp1
HG00741.hp1
HG00741.hp2
HG01070.hp2
HG01071.hp1
HG01074.hp2
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02056.hp1
HG02056.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02145.hp1
HG02145.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
NA18612.hp1
NA18612.hp2
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18948.hp1
NA18950.hp1
NA18950.hp2
NA18955.hp1
NA18955.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18967.hp2
NA18973.hp2
NA18977.hp1
NA18978.hp1
NA18978.hp2
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18990.hp1
NA18990.hp2
NA18994.hp1
NA19000.hp1
NA19007.hp2
NA19009.hp2
NA19010.hp1
NA19011.hp1
NA19011.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19084.hp2
NA19087.hp2
NA19090.hp2
NA19091.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.608+10332A>T
c.608+10332A>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 642959
chr17:643036 C
C
 T
T
 4 a0001c0001t0032g0114
a0001c0001t0095g0145
a0001c0001t0096g0146
others(1): Show 
a0001c0001t0032g0114
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0098g0147
 4 HG02818.hp2
HG02895.hp1
HG03225.hp2
others(1): Show 
HG02818.hp2
HG02895.hp1
HG03225.hp2
NA20300.hp2
 intron_variant MODIFIER c.608+10255G>A
c.608+10255G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 643036
chr17:643049 A
A
 C
C
 14 a0001c0002t0017g0225
a0001c0002t0035g0219
a0001c0002t0038g0224
others(11): Show 
a0001c0002t0017g0225
a0001c0002t0035g0219
a0001c0002t0038g0224
a0001c0002t0050g0049
a0001c0002t0086g0221
a0001c0002t0100g0223
a0001c0002t0125g0116
a0001c0002t0143g0226
a0001c0002t0149g0202
a0004c0008t0035g0203
a0004c0008t0103g0227
a0004c0008t0124g0229
a0004c0008t0133g0232
a0004c0008t0142g0228
 14 HG00140.hp1
HG00438.hp1
HG01346.hp1
others(11): Show 
HG00140.hp1
HG00438.hp1
HG01346.hp1
HG01516.hp1
HG02145.hp1
HG02280.hp1
HG03942.hp2
HG04184.hp1
NA18944.hp2
NA18973.hp2
NA18990.hp2
NA19007.hp2
NA19011.hp1
NA19066.hp1
 intron_variant MODIFIER c.608+10242T>G
c.608+10242T>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 643049
chr17:643052 T
T
 C
C
 14 a0001c0002t0017g0225
a0001c0002t0035g0219
a0001c0002t0038g0224
others(11): Show 
a0001c0002t0017g0225
a0001c0002t0035g0219
a0001c0002t0038g0224
a0001c0002t0050g0049
a0001c0002t0086g0221
a0001c0002t0100g0223
a0001c0002t0125g0116
a0001c0002t0143g0226
a0001c0002t0149g0202
a0004c0008t0035g0203
a0004c0008t0103g0227
a0004c0008t0124g0229
a0004c0008t0133g0232
a0004c0008t0142g0228
 14 HG00140.hp1
HG00438.hp1
HG01346.hp1
others(11): Show 
HG00140.hp1
HG00438.hp1
HG01346.hp1
HG01516.hp1
HG02145.hp1
HG02280.hp1
HG03942.hp2
HG04184.hp1
NA18944.hp2
NA18973.hp2
NA18990.hp2
NA19007.hp2
NA19011.hp1
NA19066.hp1
 intron_variant MODIFIER c.608+10239A>G
c.608+10239A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 643052
chr17:643052 T
T
 G
G
 1 a0001c0001t0084g0046
a0001c0001t0084g0046
 1 HG03516.hp1
HG03516.hp1
 intron_variant MODIFIER c.608+10239A>C
c.608+10239A>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 643052
chr17:643053 C
C
 T
T
 14 a0001c0002t0017g0225
a0001c0002t0035g0219
a0001c0002t0038g0224
others(11): Show 
a0001c0002t0017g0225
a0001c0002t0035g0219
a0001c0002t0038g0224
a0001c0002t0050g0049
a0001c0002t0086g0221
a0001c0002t0100g0223
a0001c0002t0125g0116
a0001c0002t0143g0226
a0001c0002t0149g0202
a0004c0008t0035g0203
a0004c0008t0103g0227
a0004c0008t0124g0229
a0004c0008t0133g0232
a0004c0008t0142g0228
 14 HG00140.hp1
HG00438.hp1
HG01346.hp1
others(11): Show 
HG00140.hp1
HG00438.hp1
HG01346.hp1
HG01516.hp1
HG02145.hp1
HG02280.hp1
HG03942.hp2
HG04184.hp1
NA18944.hp2
NA18973.hp2
NA18990.hp2
NA19007.hp2
NA19011.hp1
NA19066.hp1
 intron_variant MODIFIER c.608+10238G>A
c.608+10238G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 643053
chr17:643054 A
A
 G
G
 15 a0001c0001t0084g0046
a0001c0002t0017g0225
a0001c0002t0035g0219
others(12): Show 
a0001c0001t0084g0046
a0001c0002t0017g0225
a0001c0002t0035g0219
a0001c0002t0038g0224
a0001c0002t0050g0049
a0001c0002t0086g0221
a0001c0002t0100g0223
a0001c0002t0125g0116
a0001c0002t0143g0226
a0001c0002t0149g0202
a0004c0008t0035g0203
a0004c0008t0103g0227
a0004c0008t0124g0229
a0004c0008t0133g0232
a0004c0008t0142g0228
 15 HG00140.hp1
HG00438.hp1
HG01346.hp1
others(12): Show 
HG00140.hp1
HG00438.hp1
HG01346.hp1
HG01516.hp1
HG02145.hp1
HG02280.hp1
HG03516.hp1
HG03942.hp2
HG04184.hp1
NA18944.hp2
NA18973.hp2
NA18990.hp2
NA19007.hp2
NA19011.hp1
NA19066.hp1
 intron_variant MODIFIER c.608+10237T>C
c.608+10237T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 643054
chr17:643075 C
C
 A
A
 1 a0001c0001t0084g0046
a0001c0001t0084g0046
 1 HG03516.hp1
HG03516.hp1
 intron_variant MODIFIER c.608+10216G>T
c.608+10216G>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 643075
chr17:643078 C
C
 T
T
 1 a0001c0001t0084g0046
a0001c0001t0084g0046
 1 HG03516.hp1
HG03516.hp1
 intron_variant MODIFIER c.608+10213G>A
c.608+10213G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 643078
chr17:643079 T
T
 C
C
 7 a0001c0001t0084g0046
a0001c0001t0119g0144
a0001c0002t0001g0094
others(4): Show 
a0001c0001t0084g0046
a0001c0001t0119g0144
a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0005t0080g0092
a0001c0011t0051g0091
 7 HG01074.hp2
HG03516.hp1
NA18747.hp2
others(4): Show 
HG01074.hp2
HG03516.hp1
NA18747.hp2
NA18955.hp2
NA18984.hp2
NA18987.hp2
NA19064.hp2
 intron_variant MODIFIER c.608+10212A>G
c.608+10212A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 643079
chr17:643080 G
G
 A
A
 1 a0001c0001t0084g0046
a0001c0001t0084g0046
 1 HG03516.hp1
HG03516.hp1
 intron_variant MODIFIER c.608+10211C>T
c.608+10211C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 643080
chr17:643101 A
A
 C
C
 1 a0001c0001t0084g0046
a0001c0001t0084g0046
 1 HG03516.hp1
HG03516.hp1
 intron_variant MODIFIER c.608+10190T>G
c.608+10190T>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 643101
chr17:643120 C
C
 T
T
 1 a0001c0001t0084g0046
a0001c0001t0084g0046
 1 HG03516.hp1
HG03516.hp1
 intron_variant MODIFIER c.608+10171G>A
c.608+10171G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 643120
chr17:643130 G
G
 C
C
 1 a0001c0001t0084g0046
a0001c0001t0084g0046
 1 HG03516.hp1
HG03516.hp1
 intron_variant MODIFIER c.608+10161C>G
c.608+10161C>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 643130
chr17:643141 A
A
 G
G
 1 a0002c0003t0099g0192
a0002c0003t0099g0192
 1 HG00438.hp2
HG00438.hp2
 intron_variant MODIFIER c.608+10150T>C
c.608+10150T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 643141
chr17:643146 T
T
 C
C
 1 a0001c0001t0084g0046
a0001c0001t0084g0046
 1 HG03516.hp1
HG03516.hp1
 intron_variant MODIFIER c.608+10145A>G
c.608+10145A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 643146
chr17:643205 C
C
 A
A
 136 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(133): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0017g0158
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0032g0114
a0001c0001t0032g0204
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0034g0126
a0001c0001t0034g0162
a0001c0001t0069g0012
a0001c0001t0084g0046
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0097g0199
a0001c0001t0098g0147
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0105g0201
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0108g0148
a0001c0001t0110g0127
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0118g0195
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0122g0160
a0001c0001t0123g0123
a0001c0001t0127g0159
a0001c0001t0128g0132
a0001c0001t0134g0154
a0001c0001t0138g0161
a0001c0001t0141g0165
a0001c0002t0001g0094
a0001c0002t0055g0084
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0002t0078g0041
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0001c0011t0051g0091
a0001c0014t0135g0166
a0001c0015t0126g0149
a0001c0016t0052g0099
a0002c0010t0038g0156
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
a0006c0012t0129g0140
a0007c0013t0132g0163
 136 HG00099.hp2
HG00280.hp2
HG00423.hp2
others(133): Show 
HG00099.hp2
HG00280.hp2
HG00423.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp2
HG01081.hp2
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp2
HG01346.hp2
HG01361.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp2
HG01978.hp2
HG01981.hp2
HG02040.hp2
HG02056.hp2
HG02074.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02132.hp2
HG02135.hp2
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02723.hp1
HG02723.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp2
HG04184.hp2
HG04199.hp2
HG04204.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp2
NA18945.hp1
NA18945.hp2
NA18948.hp1
NA18950.hp1
NA18950.hp2
NA18955.hp2
NA18957.hp1
NA18959.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18967.hp2
NA18977.hp1
NA18978.hp1
NA18978.hp2
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18986.hp2
NA18987.hp2
NA18990.hp1
NA18994.hp1
NA18994.hp2
NA19000.hp2
NA19009.hp2
NA19010.hp2
NA19011.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19079.hp2
NA19080.hp1
NA19081.hp1
NA19081.hp2
NA19087.hp1
NA19087.hp2
NA19091.hp1
NA19091.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.608+10086G>T
c.608+10086G>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 643205
chr17:643208 C
C
 G
G
 5 a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
others(2): Show 
a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0005t0080g0092
a0001c0011t0051g0091
 5 HG01074.hp2
NA18747.hp2
NA18955.hp2
others(2): Show 
HG01074.hp2
NA18747.hp2
NA18955.hp2
NA18984.hp2
NA19064.hp2
 intron_variant MODIFIER c.608+10083G>C
c.608+10083G>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 643208
chr17:643208 C
C
 T
T
 131 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(128): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0017g0158
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0032g0114
a0001c0001t0032g0204
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0034g0126
a0001c0001t0034g0162
a0001c0001t0069g0012
a0001c0001t0084g0046
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0097g0199
a0001c0001t0098g0147
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0105g0201
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0108g0148
a0001c0001t0110g0127
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0118g0195
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0122g0160
a0001c0001t0123g0123
a0001c0001t0127g0159
a0001c0001t0128g0132
a0001c0001t0134g0154
a0001c0001t0138g0161
a0001c0001t0141g0165
a0001c0002t0055g0084
a0001c0002t0078g0041
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0001c0014t0135g0166
a0001c0015t0126g0149
a0001c0016t0052g0099
a0002c0010t0038g0156
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
a0006c0012t0129g0140
a0007c0013t0132g0163
 131 HG00099.hp2
HG00280.hp2
HG00423.hp2
others(128): Show 
HG00099.hp2
HG00280.hp2
HG00423.hp2
HG00741.hp1
HG00741.hp2
HG01081.hp2
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp2
HG01346.hp2
HG01361.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp2
HG01978.hp2
HG01981.hp2
HG02040.hp2
HG02056.hp2
HG02074.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02132.hp2
HG02135.hp2
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02723.hp1
HG02723.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp2
HG04184.hp2
HG04199.hp2
HG04204.hp1
NA18612.hp2
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18940.hp2
NA18945.hp1
NA18945.hp2
NA18948.hp1
NA18950.hp1
NA18950.hp2
NA18957.hp1
NA18959.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18967.hp2
NA18977.hp1
NA18978.hp1
NA18978.hp2
NA18983.hp2
NA18984.hp1
NA18986.hp2
NA18987.hp2
NA18990.hp1
NA18994.hp1
NA18994.hp2
NA19000.hp2
NA19009.hp2
NA19010.hp2
NA19011.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19065.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19079.hp2
NA19080.hp1
NA19081.hp1
NA19081.hp2
NA19087.hp1
NA19087.hp2
NA19091.hp1
NA19091.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.608+10083G>A
c.608+10083G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 643208
chr17:643209 T
T
 C
C
 136 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(133): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0017g0158
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0032g0114
a0001c0001t0032g0204
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0034g0126
a0001c0001t0034g0162
a0001c0001t0069g0012
a0001c0001t0084g0046
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0097g0199
a0001c0001t0098g0147
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0105g0201
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0108g0148
a0001c0001t0110g0127
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0118g0195
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0122g0160
a0001c0001t0123g0123
a0001c0001t0127g0159
a0001c0001t0128g0132
a0001c0001t0134g0154
a0001c0001t0138g0161
a0001c0001t0141g0165
a0001c0002t0001g0094
a0001c0002t0055g0084
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0002t0078g0041
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0001c0011t0051g0091
a0001c0014t0135g0166
a0001c0015t0126g0149
a0001c0016t0052g0099
a0002c0010t0038g0156
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
a0006c0012t0129g0140
a0007c0013t0132g0163
 136 HG00099.hp2
HG00280.hp2
HG00423.hp2
others(133): Show 
HG00099.hp2
HG00280.hp2
HG00423.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp2
HG01081.hp2
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp2
HG01346.hp2
HG01361.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp2
HG01978.hp2
HG01981.hp2
HG02040.hp2
HG02056.hp2
HG02074.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02132.hp2
HG02135.hp2
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02723.hp1
HG02723.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp2
HG04184.hp2
HG04199.hp2
HG04204.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp2
NA18945.hp1
NA18945.hp2
NA18948.hp1
NA18950.hp1
NA18950.hp2
NA18955.hp2
NA18957.hp1
NA18959.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18967.hp2
NA18977.hp1
NA18978.hp1
NA18978.hp2
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18986.hp2
NA18987.hp2
NA18990.hp1
NA18994.hp1
NA18994.hp2
NA19000.hp2
NA19009.hp2
NA19010.hp2
NA19011.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19079.hp2
NA19080.hp1
NA19081.hp1
NA19081.hp2
NA19087.hp1
NA19087.hp2
NA19091.hp1
NA19091.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.608+10082A>G
c.608+10082A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 643209
chr17:643210 G
G
 A
A
 128 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(125): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0017g0158
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0032g0114
a0001c0001t0032g0204
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0034g0126
a0001c0001t0034g0162
a0001c0001t0069g0012
a0001c0001t0084g0046
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0097g0199
a0001c0001t0098g0147
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0105g0201
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0108g0148
a0001c0001t0110g0127
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0118g0195
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0122g0160
a0001c0001t0123g0123
a0001c0001t0127g0159
a0001c0001t0128g0132
a0001c0001t0138g0161
a0001c0001t0141g0165
a0001c0002t0055g0084
a0001c0002t0078g0041
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0001c0014t0135g0166
a0001c0015t0126g0149
a0001c0016t0052g0099
a0002c0010t0038g0156
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
a0006c0012t0129g0140
a0007c0013t0132g0163
 128 HG00099.hp2
HG00280.hp2
HG00423.hp2
others(125): Show 
HG00099.hp2
HG00280.hp2
HG00423.hp2
HG00741.hp1
HG00741.hp2
HG01081.hp2
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp2
HG01346.hp2
HG01361.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01928.hp2
HG01978.hp2
HG01981.hp2
HG02040.hp2
HG02056.hp2
HG02074.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02132.hp2
HG02135.hp2
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02723.hp1
HG02723.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp2
HG04184.hp2
HG04199.hp2
HG04204.hp1
NA18612.hp2
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18940.hp2
NA18945.hp1
NA18945.hp2
NA18948.hp1
NA18950.hp1
NA18950.hp2
NA18957.hp1
NA18959.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18967.hp2
NA18977.hp1
NA18978.hp1
NA18978.hp2
NA18983.hp2
NA18984.hp1
NA18986.hp2
NA18987.hp2
NA18990.hp1
NA18994.hp1
NA18994.hp2
NA19000.hp2
NA19009.hp2
NA19010.hp2
NA19011.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19065.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19079.hp2
NA19080.hp1
NA19081.hp1
NA19081.hp2
NA19087.hp1
NA19087.hp2
NA19091.hp1
NA19091.hp2
NA20129.hp1
NA20300.hp2
NA20805.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.608+10081C>T
c.608+10081C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 643210
chr17:643214 A
A
 G
G
 1 a0003c0004t0003g0018
a0003c0004t0003g0018
 1 NA20805.hp1
NA20805.hp1
 intron_variant MODIFIER c.608+10077T>C
c.608+10077T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 643214
chr17:643215 C
C
 T
T
 7 a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
others(4): Show 
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
 7 HG01257.hp2
HG01516.hp2
HG01517.hp1
others(4): Show 
HG01257.hp2
HG01516.hp2
HG01517.hp1
HG02109.hp1
NA18906.hp1
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.608+10076G>A
c.608+10076G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 643215
chr17:643231 A
A
 C
C
 57 a0001c0002t0001g0094
a0001c0002t0055g0084
a0001c0002t0065g0093
others(54): Show 
a0001c0002t0001g0094
a0001c0002t0055g0084
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0002t0078g0041
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0011t0051g0091
a0001c0016t0052g0099
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
 57 HG00099.hp2
HG00280.hp2
HG01074.hp2
others(54): Show 
HG00099.hp2
HG00280.hp2
HG01074.hp2
HG01099.hp2
HG01168.hp2
HG01175.hp1
HG01257.hp2
HG01515.hp2
HG01516.hp2
HG01517.hp1
HG01981.hp2
HG02074.hp1
HG02109.hp1
HG02135.hp2
HG02602.hp1
HG03491.hp1
HG03492.hp1
HG03516.hp2
HG03688.hp1
HG03831.hp2
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18945.hp1
NA18948.hp1
NA18950.hp2
NA18955.hp2
NA18957.hp1
NA18959.hp1
NA18960.hp2
NA18961.hp2
NA18962.hp1
NA18977.hp1
NA18978.hp1
NA18984.hp1
NA18984.hp2
NA18986.hp2
NA18990.hp1
NA18994.hp1
NA18994.hp2
NA19000.hp2
NA19010.hp2
NA19011.hp2
NA19060.hp1
NA19064.hp1
NA19064.hp2
NA19068.hp1
NA19080.hp1
NA19081.hp1
NA19087.hp1
NA19087.hp2
NA19091.hp1
NA19091.hp2
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.608+10060T>G
c.608+10060T>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 643231
chr17:643235 C
C
 T
T
 57 a0001c0002t0001g0094
a0001c0002t0055g0084
a0001c0002t0065g0093
others(54): Show 
a0001c0002t0001g0094
a0001c0002t0055g0084
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0002t0078g0041
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0011t0051g0091
a0001c0016t0052g0099
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
 57 HG00099.hp2
HG00280.hp2
HG01074.hp2
others(54): Show 
HG00099.hp2
HG00280.hp2
HG01074.hp2
HG01099.hp2
HG01168.hp2
HG01175.hp1
HG01257.hp2
HG01515.hp2
HG01516.hp2
HG01517.hp1
HG01981.hp2
HG02074.hp1
HG02109.hp1
HG02135.hp2
HG02602.hp1
HG03491.hp1
HG03492.hp1
HG03516.hp2
HG03688.hp1
HG03831.hp2
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18945.hp1
NA18948.hp1
NA18950.hp2
NA18955.hp2
NA18957.hp1
NA18959.hp1
NA18960.hp2
NA18961.hp2
NA18962.hp1
NA18977.hp1
NA18978.hp1
NA18984.hp1
NA18984.hp2
NA18986.hp2
NA18990.hp1
NA18994.hp1
NA18994.hp2
NA19000.hp2
NA19010.hp2
NA19011.hp2
NA19060.hp1
NA19064.hp1
NA19064.hp2
NA19068.hp1
NA19080.hp1
NA19081.hp1
NA19087.hp1
NA19087.hp2
NA19091.hp1
NA19091.hp2
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.608+10056G>A
c.608+10056G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 643235
chr17:643235 CGAGGACA
others(19): Show 
CGAGGACAACACTCATACTTGGAAAGT
 C
C
 53 a0001c0002t0017g0225
a0001c0002t0035g0219
a0001c0002t0038g0224
others(50): Show 
a0001c0002t0017g0225
a0001c0002t0035g0219
a0001c0002t0038g0224
a0001c0002t0050g0049
a0001c0002t0086g0221
a0001c0002t0100g0223
a0001c0002t0109g0222
a0001c0002t0125g0116
a0001c0002t0143g0226
a0001c0002t0149g0202
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0017g0179
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0018g0231
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0085g0184
a0002c0003t0089g0175
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0099g0192
a0002c0003t0104g0208
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0145g0187
a0002c0003t0146g0170
a0002c0003t0148g0174
a0002c0003t0150g0191
a0004c0008t0035g0203
a0004c0008t0036g0207
a0004c0008t0103g0227
a0004c0008t0124g0229
a0004c0008t0133g0232
a0004c0008t0142g0228
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
 53 HG00099.hp1
HG00140.hp1
HG00323.hp2
others(50): Show 
HG00099.hp1
HG00140.hp1
HG00323.hp2
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00621.hp1
HG01070.hp2
HG01071.hp1
HG01099.hp1
HG01167.hp1
HG01346.hp1
HG01516.hp1
HG01928.hp1
HG01981.hp1
HG02040.hp1
HG02056.hp1
HG02074.hp2
HG02083.hp1
HG02129.hp1
HG02132.hp1
HG02145.hp1
HG02280.hp1
HG02293.hp1
HG02300.hp1
HG02738.hp2
HG03491.hp2
HG03831.hp1
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04199.hp1
NA18612.hp1
NA18944.hp2
NA18946.hp1
NA18955.hp1
NA18957.hp2
NA18973.hp2
NA18979.hp2
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA18990.hp2
NA19000.hp1
NA19007.hp2
NA19010.hp1
NA19011.hp1
NA19066.hp1
NA19066.hp2
NA19074.hp1
NA19080.hp2
NA19084.hp2
NA19090.hp2
 intron_variant MODIFIER c.608+10030_608+1005
others(30): Show 
c.608+10030_608+10055delACTTTCCAAGTATGAGTGTTGTCCTC
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 643235
chr17:643254 TGGAAAGT
others(45): Show 
TGGAAAGTGAGGACAACACTCATACTTGGAAAGTGAGGACAACACTCATA
CTG
 T
T
 44 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(41): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0034g0126
a0001c0001t0069g0012
a0001c0001t0094g0129
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0110g0127
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0123g0123
a0001c0001t0128g0132
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0006c0012t0129g0140
 44 HG00423.hp2
HG00741.hp2
HG01081.hp2
others(41): Show 
HG00423.hp2
HG00741.hp2
HG01081.hp2
HG01175.hp2
HG01192.hp2
HG01255.hp2
HG01256.hp2
HG01361.hp2
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp2
HG01928.hp2
HG01978.hp2
HG02040.hp2
HG02056.hp2
HG02083.hp2
HG02109.hp2
HG02129.hp2
HG02132.hp2
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02602.hp2
HG03492.hp2
HG03688.hp2
HG04184.hp2
HG04199.hp2
NA18940.hp2
NA18945.hp2
NA18950.hp1
NA18961.hp1
NA18967.hp2
NA18978.hp2
NA18983.hp2
NA18987.hp2
NA19009.hp2
NA19060.hp2
NA19065.hp2
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19079.hp2
NA19081.hp2
 intron_variant MODIFIER c.608+9985_608+10036
others(55): Show 
c.608+9985_608+10036delCAGTATGAGTGTTGTCCTCACTTTCCA
AGTATGAGTGTTGTCCTCACTTTCC
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 643254
chr17:643260 G
G
 C
C
 91 a0001c0001t0017g0158
a0001c0001t0028g0196
a0001c0001t0028g0197
others(88): Show 
a0001c0001t0017g0158
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0032g0114
a0001c0001t0032g0204
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0034g0162
a0001c0001t0084g0046
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0097g0199
a0001c0001t0098g0147
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0105g0201
a0001c0001t0108g0148
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0118g0195
a0001c0001t0122g0160
a0001c0001t0127g0159
a0001c0001t0134g0154
a0001c0001t0138g0161
a0001c0001t0141g0165
a0001c0002t0001g0094
a0001c0002t0055g0084
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0002t0078g0041
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0011t0051g0091
a0001c0015t0126g0149
a0001c0016t0052g0099
a0002c0010t0038g0156
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
a0007c0013t0132g0163
 91 HG00099.hp2
HG00280.hp2
HG00741.hp1
others(88): Show 
HG00099.hp2
HG00280.hp2
HG00741.hp1
HG01074.hp2
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01168.hp2
HG01175.hp1
HG01192.hp1
HG01257.hp1
HG01257.hp2
HG01258.hp2
HG01346.hp2
HG01515.hp2
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01891.hp1
HG01891.hp2
HG01981.hp2
HG02074.hp1
HG02109.hp1
HG02135.hp2
HG02572.hp2
HG02602.hp1
HG02622.hp1
HG02622.hp2
HG02723.hp1
HG02723.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03491.hp1
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03688.hp1
HG03831.hp2
HG04204.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18945.hp1
NA18948.hp1
NA18950.hp2
NA18955.hp2
NA18957.hp1
NA18959.hp1
NA18960.hp2
NA18961.hp2
NA18962.hp1
NA18977.hp1
NA18978.hp1
NA18984.hp1
NA18984.hp2
NA18986.hp2
NA18990.hp1
NA18994.hp1
NA18994.hp2
NA19000.hp2
NA19010.hp2
NA19011.hp2
NA19060.hp1
NA19064.hp1
NA19064.hp2
NA19068.hp1
NA19080.hp1
NA19081.hp1
NA19087.hp1
NA19087.hp2
NA19091.hp1
NA19091.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.608+10031C>G
c.608+10031C>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 643260
chr17:643261 T
T
 C
C
 92 a0001c0001t0017g0158
a0001c0001t0028g0196
a0001c0001t0028g0197
others(89): Show 
a0001c0001t0017g0158
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0032g0114
a0001c0001t0032g0204
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0034g0162
a0001c0001t0084g0046
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0097g0199
a0001c0001t0098g0147
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0105g0201
a0001c0001t0108g0148
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0118g0195
a0001c0001t0122g0160
a0001c0001t0127g0159
a0001c0001t0134g0154
a0001c0001t0138g0161
a0001c0001t0141g0165
a0001c0002t0001g0094
a0001c0002t0055g0084
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0002t0078g0041
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0011t0051g0091
a0001c0014t0135g0166
a0001c0015t0126g0149
a0001c0016t0052g0099
a0002c0010t0038g0156
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
a0007c0013t0132g0163
 92 HG00099.hp2
HG00280.hp2
HG00741.hp1
others(89): Show 
HG00099.hp2
HG00280.hp2
HG00741.hp1
HG01074.hp2
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01168.hp2
HG01175.hp1
HG01192.hp1
HG01257.hp1
HG01257.hp2
HG01258.hp2
HG01346.hp2
HG01515.hp2
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01891.hp1
HG01891.hp2
HG01981.hp2
HG02074.hp1
HG02109.hp1
HG02135.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02622.hp1
HG02622.hp2
HG02723.hp1
HG02723.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03491.hp1
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03688.hp1
HG03831.hp2
HG04204.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18945.hp1
NA18948.hp1
NA18950.hp2
NA18955.hp2
NA18957.hp1
NA18959.hp1
NA18960.hp2
NA18961.hp2
NA18962.hp1
NA18977.hp1
NA18978.hp1
NA18984.hp1
NA18984.hp2
NA18986.hp2
NA18990.hp1
NA18994.hp1
NA18994.hp2
NA19000.hp2
NA19010.hp2
NA19011.hp2
NA19060.hp1
NA19064.hp1
NA19064.hp2
NA19068.hp1
NA19080.hp1
NA19081.hp1
NA19087.hp1
NA19087.hp2
NA19091.hp1
NA19091.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.608+10030A>G
c.608+10030A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 643261
chr17:643262 G
G
 A
A
 5 a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
others(2): Show 
a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0005t0080g0092
a0001c0011t0051g0091
 5 HG01074.hp2
NA18747.hp2
NA18955.hp2
others(2): Show 
HG01074.hp2
NA18747.hp2
NA18955.hp2
NA18984.hp2
NA19064.hp2
 intron_variant MODIFIER c.608+10029C>T
c.608+10029C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 643262
chr17:643287 T
T
 C
C
 1 a0001c0001t0084g0046
a0001c0001t0084g0046
 1 HG03516.hp1
HG03516.hp1
 intron_variant MODIFIER c.608+10004A>G
c.608+10004A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 643287
chr17:643313 C
C
 T
T
 1 a0001c0001t0108g0148
a0001c0001t0108g0148
 1 HG01192.hp1
HG01192.hp1
 intron_variant MODIFIER c.608+9978G>A
c.608+9978G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 643313
chr17:643324 C
C
 T
T
 14 a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
others(11): Show 
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0097g0199
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0105g0201
a0001c0001t0118g0195
a0001c0001t0134g0154
 14 HG01109.hp2
HG01346.hp2
HG01884.hp1
others(11): Show 
HG01109.hp2
HG01346.hp2
HG01884.hp1
HG01891.hp2
HG02572.hp2
HG02622.hp1
HG02622.hp2
HG02723.hp2
HG02818.hp1
HG02922.hp2
HG03139.hp1
HG03139.hp2
NA20129.hp2
NA20300.hp1
 intron_variant MODIFIER c.608+9967G>A
c.608+9967G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 643324
chr17:643486 C
C
 T
T
 14 a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
others(11): Show 
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0097g0199
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0105g0201
a0001c0001t0118g0195
a0001c0001t0134g0154
 14 HG01109.hp2
HG01346.hp2
HG01884.hp1
others(11): Show 
HG01109.hp2
HG01346.hp2
HG01884.hp1
HG01891.hp2
HG02572.hp2
HG02622.hp1
HG02622.hp2
HG02723.hp2
HG02818.hp1
HG02922.hp2
HG03139.hp1
HG03139.hp2
NA20129.hp2
NA20300.hp1
 intron_variant MODIFIER c.608+9805G>A
c.608+9805G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 643486
chr17:643521 TGAGGACA
others(19): Show 
TGAGGACAACACTCATACTTGGAAACC
 T
T
 213 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(210): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0017g0158
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0032g0114
a0001c0001t0032g0204
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0034g0126
a0001c0001t0034g0162
a0001c0001t0069g0012
a0001c0001t0084g0046
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0097g0199
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0105g0201
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0110g0127
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0118g0195
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0122g0160
a0001c0001t0123g0123
a0001c0001t0127g0159
a0001c0001t0128g0132
a0001c0001t0134g0154
a0001c0001t0138g0161
a0001c0001t0141g0165
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0017g0225
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0035g0219
a0001c0002t0038g0224
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0050g0049
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0002t0086g0221
a0001c0002t0100g0223
a0001c0002t0109g0222
a0001c0002t0125g0116
a0001c0002t0143g0226
a0001c0002t0149g0202
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0001c0014t0135g0166
a0001c0015t0126g0149
a0001c0016t0052g0099
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0017g0179
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0018g0231
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0073g0068
a0002c0003t0085g0184
a0002c0003t0089g0175
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0099g0192
a0002c0003t0104g0208
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0145g0187
a0002c0003t0146g0170
a0002c0003t0148g0174
a0002c0003t0150g0191
a0002c0010t0038g0156
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
a0004c0008t0035g0203
a0004c0008t0036g0207
a0004c0008t0103g0227
a0004c0008t0124g0229
a0004c0008t0133g0232
a0004c0008t0142g0228
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
a0006c0012t0129g0140
a0007c0013t0132g0163
 213 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(210): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00621.hp1
HG00621.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02056.hp1
HG02056.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02145.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
NA18612.hp1
NA18612.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18955.hp1
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18967.hp1
NA18967.hp2
NA18973.hp1
NA18973.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18990.hp1
NA18990.hp2
NA18994.hp1
NA19000.hp1
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19011.hp1
NA19011.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.608+9744_608+9769d
others(28): Show 
c.608+9744_608+9769delGGTTTCCAAGTATGAGTGTTGTCCTC
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 643521
chr17:643522 G
G
 GAGGACAA
others(383): Show 
GAGGACAACACTCACACTTGGAAAGCGAGGACAACACTCATACTTGGAAA
GCGAGGACAACACTCATACTTGGAAAGCGAGGACAACACTCATACTTGGA
AATCAAGGACAACACTCATACTTGGAAACCGAGGACAACACTCATACTTG
GAAACCGAGGACAACACTCATACTTGGAAAGTGAGGACAACACTCATACT
GGGAAACCGAGGACAACACTCATACTTGGCAACTGAGGACAACACTCATA
CTTGGAAACCGAGGACAACACTCATACTTGGCAACTGAGGACAATACTCA
TACTTGGAAAGCGAGGACAACACTCATACTTGGAAAGCGAGGACAACACT
CATACTTGGAAATCAAGGACAACACTCATACTTGGAAATCA
 1 a0001c0001t0108g0148
a0001c0001t0108g0148
 1 HG01192.hp1
HG01192.hp1
 intron_variant MODIFIER c.608+9768_608+9769i
others(392): Show 
c.608+9768_608+9769insTGATTTCCAAGTATGAGTGTTGTCCTTG
ATTTCCAAGTATGAGTGTTGTCCTCGCTTTCCAAGTATGAGTGTTGTCCT
CGCTTTCCAAGTATGAGTATTGTCCTCAGTTGCCAAGTATGAGTGTTGTC
CTCGGTTTCCAAGTATGAGTGTTGTCCTCAGTTGCCAAGTATGAGTGTTG
TCCTCGGTTTCCCAGTATGAGTGTTGTCCTCACTTTCCAAGTATGAGTGT
TGTCCTCGGTTTCCAAGTATGAGTGTTGTCCTCGGTTTCCAAGTATGAGT
GTTGTCCTTGATTTCCAAGTATGAGTGTTGTCCTCGCTTTCCAAGTATGA
GTGTTGTCCTCGCTTTCCAAGTATGAGTGTTGTCCTCGCTTTCCAAGTGT
GAGTGTTGTCCT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 643522
chr17:643543 A
A
 C
C
 1 a0001c0001t0108g0148
a0001c0001t0108g0148
 1 HG01192.hp1
HG01192.hp1
 intron_variant MODIFIER c.608+9748T>G
c.608+9748T>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 643543
chr17:643543 AAACCGAG
others(45): Show 
AAACCGAGGACAACACTCATACTTGGAAACCGAGGACAACACTCATACTT
GGC
 A
A
 1 a0001c0001t0098g0147
a0001c0001t0098g0147
 1 HG02818.hp2
HG02818.hp2
 intron_variant MODIFIER c.608+9696_608+9747d
others(54): Show 
c.608+9696_608+9747delGCCAAGTATGAGTGTTGTCCTCGGTTTC
CAAGTATGAGTGTTGTCCTCGGTT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 643543
chr17:643547 C
C
 CGAGGACA
others(19): Show 
CGAGGACAACACTCATACTTGGCAACT
 5 a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
others(2): Show 
a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0005t0080g0092
a0001c0011t0051g0091
 5 HG01074.hp2
NA18747.hp2
NA18955.hp2
others(2): Show 
HG01074.hp2
NA18747.hp2
NA18955.hp2
NA18984.hp2
NA19064.hp2
 intron_variant MODIFIER c.608+9743_608+9744i
others(28): Show 
c.608+9743_608+9744insAGTTGCCAAGTATGAGTGTTGTCCTC
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 643547
chr17:643547 C
C
 T
T
 1 a0001c0001t0108g0148
a0001c0001t0108g0148
 1 HG01192.hp1
HG01192.hp1
 intron_variant MODIFIER c.608+9744G>A
c.608+9744G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 643547
chr17:643569 A
A
 C
C
 10 a0001c0002t0078g0041
a0001c0005t0010g0008
a0001c0005t0019g0006
others(7): Show 
a0001c0002t0078g0041
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
 10 HG02135.hp2
HG02602.hp1
HG03516.hp2
others(7): Show 
HG02135.hp2
HG02602.hp1
HG03516.hp2
NA18747.hp1
NA18960.hp2
NA18994.hp2
NA19000.hp2
NA19010.hp2
NA19087.hp1
NA19091.hp1
 intron_variant MODIFIER c.608+9722T>G
c.608+9722T>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 643569
chr17:643595 C
C
 A
A
 15 a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
others(12): Show 
a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0002t0078g0041
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0011t0051g0091
 15 HG01074.hp2
HG02135.hp2
HG02602.hp1
others(12): Show 
HG01074.hp2
HG02135.hp2
HG02602.hp1
HG03516.hp2
NA18747.hp1
NA18747.hp2
NA18955.hp2
NA18960.hp2
NA18984.hp2
NA18994.hp2
NA19000.hp2
NA19010.hp2
NA19064.hp2
NA19087.hp1
NA19091.hp1
 intron_variant MODIFIER c.608+9696G>T
c.608+9696G>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 643595
chr17:643598 C
C
 G
G
 5 a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
others(2): Show 
a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0005t0080g0092
a0001c0011t0051g0091
 5 HG01074.hp2
NA18747.hp2
NA18955.hp2
others(2): Show 
HG01074.hp2
NA18747.hp2
NA18955.hp2
NA18984.hp2
NA19064.hp2
 intron_variant MODIFIER c.608+9693G>C
c.608+9693G>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 643598
chr17:643624 C
C
 G
G
 15 a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
others(12): Show 
a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0002t0078g0041
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0011t0051g0091
 15 HG01074.hp2
HG02135.hp2
HG02602.hp1
others(12): Show 
HG01074.hp2
HG02135.hp2
HG02602.hp1
HG03516.hp2
NA18747.hp1
NA18747.hp2
NA18955.hp2
NA18960.hp2
NA18984.hp2
NA18994.hp2
NA19000.hp2
NA19010.hp2
NA19064.hp2
NA19087.hp1
NA19091.hp1
 intron_variant MODIFIER c.608+9667G>C
c.608+9667G>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 643624
chr17:643626 G
G
 A
A
 1 a0001c0002t0001g0045
a0001c0002t0001g0045
 1 HG01070.hp1
HG01070.hp1
 intron_variant MODIFIER c.608+9665C>T
c.608+9665C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 643626
chr17:643645 G
G
 C
C
 38 a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
others(35): Show 
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0017g0179
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0018g0231
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0085g0184
a0002c0003t0089g0175
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0099g0192
a0002c0003t0104g0208
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0145g0187
a0002c0003t0146g0170
a0002c0003t0148g0174
a0002c0003t0150g0191
a0004c0008t0036g0207
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
 38 HG00323.hp2
HG00423.hp1
HG00438.hp2
others(35): Show 
HG00323.hp2
HG00423.hp1
HG00438.hp2
HG00621.hp1
HG01070.hp2
HG01071.hp1
HG01099.hp1
HG01167.hp1
HG01928.hp1
HG01981.hp1
HG02040.hp1
HG02056.hp1
HG02074.hp2
HG02083.hp1
HG02129.hp1
HG02132.hp1
HG02293.hp1
HG02300.hp1
HG02738.hp2
HG03491.hp2
HG03831.hp1
HG03942.hp1
HG04199.hp1
NA18612.hp1
NA18946.hp1
NA18955.hp1
NA18957.hp2
NA18979.hp2
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA19000.hp1
NA19010.hp1
NA19066.hp2
NA19074.hp1
NA19080.hp2
NA19084.hp2
NA19090.hp2
 intron_variant MODIFIER c.608+9646C>G
c.608+9646C>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 643645
chr17:643668 C
C
 CTTGGAAA
others(19): Show 
CTTGGAAAGCGAGGACAACACTCATAT
 10 a0001c0002t0078g0041
a0001c0005t0010g0008
a0001c0005t0019g0006
others(7): Show 
a0001c0002t0078g0041
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
 10 HG02135.hp2
HG02602.hp1
HG03516.hp2
others(7): Show 
HG02135.hp2
HG02602.hp1
HG03516.hp2
NA18747.hp1
NA18960.hp2
NA18994.hp2
NA19000.hp2
NA19010.hp2
NA19087.hp1
NA19091.hp1
 intron_variant MODIFIER c.608+9622_608+9623i
others(28): Show 
c.608+9622_608+9623insATATGAGTGTTGTCCTCGCTTTCCAA
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 643668
chr17:643668 C
C
 T
T
 5 a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
others(2): Show 
a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0005t0080g0092
a0001c0011t0051g0091
 5 HG01074.hp2
NA18747.hp2
NA18955.hp2
others(2): Show 
HG01074.hp2
NA18747.hp2
NA18955.hp2
NA18984.hp2
NA19064.hp2
 intron_variant MODIFIER c.608+9623G>A
c.608+9623G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 643668
chr17:643729 T
T
 C
C
 1 a0002c0003t0008g0180
a0002c0003t0008g0180
 1 HG02293.hp1
HG02293.hp1
 intron_variant MODIFIER c.608+9562A>G
c.608+9562A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 643729
chr17:643851 G
G
 T
T
 15 a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
others(12): Show 
a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0002t0078g0041
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0011t0051g0091
 15 HG01074.hp2
HG02135.hp2
HG02602.hp1
others(12): Show 
HG01074.hp2
HG02135.hp2
HG02602.hp1
HG03516.hp2
NA18747.hp1
NA18747.hp2
NA18955.hp2
NA18960.hp2
NA18984.hp2
NA18994.hp2
NA19000.hp2
NA19010.hp2
NA19064.hp2
NA19087.hp1
NA19091.hp1
 intron_variant MODIFIER c.608+9440C>A
c.608+9440C>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 643851
chr17:643884 G
G
 A
A
 53 a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
others(50): Show 
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0016t0052g0099
a0002c0003t0073g0068
 53 HG00099.hp2
HG00140.hp2
HG00280.hp1
others(50): Show 
HG00099.hp2
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00621.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01099.hp2
HG01106.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01361.hp1
HG01496.hp1
HG01515.hp2
HG01978.hp1
HG01981.hp2
HG02135.hp1
HG02738.hp1
HG02886.hp1
HG03491.hp1
HG03492.hp1
HG03688.hp1
HG04204.hp2
NA18906.hp2
NA18940.hp1
NA18944.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18959.hp2
NA18960.hp1
NA18962.hp2
NA18967.hp1
NA18973.hp1
NA18977.hp2
NA18979.hp1
NA19007.hp1
NA19009.hp1
NA19065.hp1
NA19070.hp1
NA19079.hp1
NA19084.hp1
NA19090.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.608+9407C>T
c.608+9407C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 643884
chr17:643904 G
G
 T
T
 1 a0001c0006t0039g0003
a0001c0006t0039g0003
 1 HG01515.hp2
HG01515.hp2
 intron_variant MODIFIER c.608+9387C>A
c.608+9387C>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 643904
chr17:643960 C
C
 A
A
 1 a0001c0001t0108g0148
a0001c0001t0108g0148
 1 HG01192.hp1
HG01192.hp1
 intron_variant MODIFIER c.608+9331G>T
c.608+9331G>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 643960
chr17:643975 A
A
 T
T
 1 a0002c0003t0146g0170
a0002c0003t0146g0170
 1 NA19090.hp2
NA19090.hp2
 intron_variant MODIFIER c.608+9316T>A
c.608+9316T>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 643975
chr17:644403 C
C
 A
A
 15 a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
others(12): Show 
a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0002t0078g0041
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0011t0051g0091
 15 HG01074.hp2
HG02135.hp2
HG02602.hp1
others(12): Show 
HG01074.hp2
HG02135.hp2
HG02602.hp1
HG03516.hp2
NA18747.hp1
NA18747.hp2
NA18955.hp2
NA18960.hp2
NA18984.hp2
NA18994.hp2
NA19000.hp2
NA19010.hp2
NA19064.hp2
NA19087.hp1
NA19091.hp1
 intron_variant MODIFIER c.608+8888G>T
c.608+8888G>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 644403
chr17:644584 GT
GT
 G
G
 5 a0001c0001t0017g0158
a0001c0001t0034g0162
a0001c0001t0122g0160
others(2): Show 
a0001c0001t0017g0158
a0001c0001t0034g0162
a0001c0001t0122g0160
a0001c0001t0138g0161
a0001c0001t0141g0165
 5 HG00741.hp1
HG01106.hp2
HG01109.hp1
others(2): Show 
HG00741.hp1
HG01106.hp2
HG01109.hp1
HG01257.hp1
HG01258.hp2
 intron_variant MODIFIER c.608+8706delA
c.608+8706delA
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 644584
chr17:644587 AT
AT
 A
A
 14 a0001c0001t0032g0204
a0001c0001t0033g0205
a0001c0001t0033g0206
others(11): Show 
a0001c0001t0032g0204
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0084g0046
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0127g0159
a0001c0002t0050g0049
a0001c0002t0078g0041
a0001c0014t0135g0166
a0001c0015t0126g0149
a0002c0010t0038g0156
a0003c0004t0025g0038
a0007c0013t0132g0163
 14 HG01891.hp1
HG02280.hp1
HG02572.hp1
others(11): Show 
HG01891.hp1
HG02280.hp1
HG02572.hp1
HG02723.hp1
HG02886.hp2
HG02895.hp2
HG02922.hp1
HG03225.hp1
HG03516.hp1
HG03516.hp2
HG04204.hp1
NA19068.hp1
NA20129.hp1
NA21309.hp1
 intron_variant MODIFIER c.608+8703delA
c.608+8703delA
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 644587
chr17:644588 T
T
 A
A
 5 a0001c0001t0017g0158
a0001c0001t0034g0162
a0001c0001t0122g0160
others(2): Show 
a0001c0001t0017g0158
a0001c0001t0034g0162
a0001c0001t0122g0160
a0001c0001t0138g0161
a0001c0001t0141g0165
 5 HG00741.hp1
HG01106.hp2
HG01109.hp1
others(2): Show 
HG00741.hp1
HG01106.hp2
HG01109.hp1
HG01257.hp1
HG01258.hp2
 intron_variant MODIFIER c.608+8703A>T
c.608+8703A>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 644588
chr17:644598 T
T
 C
C
 17 a0001c0002t0001g0094
a0001c0002t0026g0059
a0001c0002t0026g0060
others(14): Show 
a0001c0002t0001g0094
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0002t0078g0041
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0011t0051g0091
 17 HG01074.hp2
HG01256.hp1
HG01258.hp1
others(14): Show 
HG01074.hp2
HG01256.hp1
HG01258.hp1
HG02135.hp2
HG02602.hp1
HG03516.hp2
NA18747.hp1
NA18747.hp2
NA18955.hp2
NA18960.hp2
NA18984.hp2
NA18994.hp2
NA19000.hp2
NA19010.hp2
NA19064.hp2
NA19087.hp1
NA19091.hp1
 intron_variant MODIFIER c.608+8693A>G
c.608+8693A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 644598
chr17:644603 C
C
 CT
CT
 51 a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
others(48): Show 
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0016t0052g0099
a0002c0003t0073g0068
 51 HG00099.hp2
HG00140.hp2
HG00280.hp1
others(48): Show 
HG00099.hp2
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00621.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01099.hp2
HG01106.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01255.hp1
HG01361.hp1
HG01496.hp1
HG01515.hp2
HG01978.hp1
HG01981.hp2
HG02135.hp1
HG02738.hp1
HG02886.hp1
HG03491.hp1
HG03492.hp1
HG03688.hp1
HG04204.hp2
NA18906.hp2
NA18940.hp1
NA18944.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18959.hp2
NA18960.hp1
NA18962.hp2
NA18967.hp1
NA18973.hp1
NA18977.hp2
NA18979.hp1
NA19007.hp1
NA19009.hp1
NA19065.hp1
NA19070.hp1
NA19079.hp1
NA19084.hp1
NA19090.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.608+8687_608+8688i
others(3): Show 
c.608+8687_608+8688insA
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 644603
chr17:644603 C
C
 T
T
 17 a0001c0002t0001g0094
a0001c0002t0026g0059
a0001c0002t0026g0060
others(14): Show 
a0001c0002t0001g0094
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0002t0078g0041
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0011t0051g0091
 17 HG01074.hp2
HG01256.hp1
HG01258.hp1
others(14): Show 
HG01074.hp2
HG01256.hp1
HG01258.hp1
HG02135.hp2
HG02602.hp1
HG03516.hp2
NA18747.hp1
NA18747.hp2
NA18955.hp2
NA18960.hp2
NA18984.hp2
NA18994.hp2
NA19000.hp2
NA19010.hp2
NA19064.hp2
NA19087.hp1
NA19091.hp1
 intron_variant MODIFIER c.608+8688G>A
c.608+8688G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 644603
chr17:644609 G
G
 A
A
 5 a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
others(2): Show 
a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0005t0080g0092
a0001c0011t0051g0091
 5 HG01074.hp2
NA18747.hp2
NA18955.hp2
others(2): Show 
HG01074.hp2
NA18747.hp2
NA18955.hp2
NA18984.hp2
NA19064.hp2
 intron_variant MODIFIER c.608+8682C>T
c.608+8682C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 644609
chr17:644654 G
G
 C
C
 1 a0001c0002t0022g0085
a0001c0002t0022g0085
 1 NA18940.hp1
NA18940.hp1
 intron_variant MODIFIER c.608+8637C>G
c.608+8637C>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 644654
chr17:645013 T
T
 C
C
 15 a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
others(12): Show 
a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0002t0078g0041
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0011t0051g0091
 15 HG01074.hp2
HG02135.hp2
HG02602.hp1
others(12): Show 
HG01074.hp2
HG02135.hp2
HG02602.hp1
HG03516.hp2
NA18747.hp1
NA18747.hp2
NA18955.hp2
NA18960.hp2
NA18984.hp2
NA18994.hp2
NA19000.hp2
NA19010.hp2
NA19064.hp2
NA19087.hp1
NA19091.hp1
 intron_variant MODIFIER c.608+8278A>G
c.608+8278A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 645013
chr17:645191 C
C
 A
A
 5 a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
others(2): Show 
a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0005t0080g0092
a0001c0011t0051g0091
 5 HG01074.hp2
NA18747.hp2
NA18955.hp2
others(2): Show 
HG01074.hp2
NA18747.hp2
NA18955.hp2
NA18984.hp2
NA19064.hp2
 intron_variant MODIFIER c.608+8100G>T
c.608+8100G>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 645191
chr17:645263 C
C
 T
T
 2 a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0101g0200
a0001c0001t0102g0220
 2 HG02572.hp2
HG03139.hp1
HG02572.hp2
HG03139.hp1
 intron_variant MODIFIER c.608+8028G>A
c.608+8028G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 645263
chr17:645377 T
T
 C
C
 10 a0001c0002t0078g0041
a0001c0005t0010g0008
a0001c0005t0019g0006
others(7): Show 
a0001c0002t0078g0041
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
 10 HG02135.hp2
HG02602.hp1
HG03516.hp2
others(7): Show 
HG02135.hp2
HG02602.hp1
HG03516.hp2
NA18747.hp1
NA18960.hp2
NA18994.hp2
NA19000.hp2
NA19010.hp2
NA19087.hp1
NA19091.hp1
 intron_variant MODIFIER c.608+7914A>G
c.608+7914A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 645377
chr17:645535 C
C
 T
T
 14 a0001c0002t0017g0225
a0001c0002t0035g0219
a0001c0002t0038g0224
others(11): Show 
a0001c0002t0017g0225
a0001c0002t0035g0219
a0001c0002t0038g0224
a0001c0002t0086g0221
a0001c0002t0100g0223
a0001c0002t0109g0222
a0001c0002t0125g0116
a0001c0002t0143g0226
a0001c0002t0149g0202
a0004c0008t0035g0203
a0004c0008t0103g0227
a0004c0008t0124g0229
a0004c0008t0133g0232
a0004c0008t0142g0228
 14 HG00099.hp1
HG00140.hp1
HG00438.hp1
others(11): Show 
HG00099.hp1
HG00140.hp1
HG00438.hp1
HG01346.hp1
HG01516.hp1
HG02145.hp1
HG03942.hp2
HG04184.hp1
NA18944.hp2
NA18973.hp2
NA18990.hp2
NA19007.hp2
NA19011.hp1
NA19066.hp1
 intron_variant MODIFIER c.608+7756G>A
c.608+7756G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 645535
chr17:645764 T
T
 C
C
 30 a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
others(27): Show 
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
 30 HG01257.hp2
HG01516.hp2
HG01517.hp1
others(27): Show 
HG01257.hp2
HG01516.hp2
HG01517.hp1
HG02074.hp1
HG02109.hp1
HG03831.hp2
NA18612.hp2
NA18906.hp1
NA18945.hp1
NA18950.hp2
NA18957.hp1
NA18959.hp1
NA18961.hp2
NA18962.hp1
NA18977.hp1
NA18978.hp1
NA18984.hp1
NA18986.hp2
NA18990.hp1
NA18994.hp1
NA19011.hp2
NA19060.hp1
NA19064.hp1
NA19068.hp1
NA19080.hp1
NA19081.hp1
NA19087.hp2
NA19091.hp2
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.608+7527A>G
c.608+7527A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 645764
chr17:645765 A
A
 T
T
 30 a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
others(27): Show 
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
 30 HG01257.hp2
HG01516.hp2
HG01517.hp1
others(27): Show 
HG01257.hp2
HG01516.hp2
HG01517.hp1
HG02074.hp1
HG02109.hp1
HG03831.hp2
NA18612.hp2
NA18906.hp1
NA18945.hp1
NA18950.hp2
NA18957.hp1
NA18959.hp1
NA18961.hp2
NA18962.hp1
NA18977.hp1
NA18978.hp1
NA18984.hp1
NA18986.hp2
NA18990.hp1
NA18994.hp1
NA19011.hp2
NA19060.hp1
NA19064.hp1
NA19068.hp1
NA19080.hp1
NA19081.hp1
NA19087.hp2
NA19091.hp2
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.608+7526T>A
c.608+7526T>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 645765
chr17:645765 AGGCTCCC
others(1013): Show 
AGGCTCCCACACACATCTCCGTGACCGTGTGGCCACTGCCTCCTAAGGGT
CTTATCTTTTCTAATCCATATCACGGACTGGAGACTGGCTCTTACACACA
TCTCCGTGACCGCGTGGTCTCTGCCTGATAAGGGTCTTATCTTTTCTAAT
TCATACCACGGACTGGAGACTGGCTCCCACACACATCTCCGTGACCGTGT
GGCCACTGCCTCCTAAGGGTCTTATCTTTTCTAATCCATATCACGGACTG
GAGACTGGCTCCCACACACATCTCGGTGACCGCGTGGCCTCTGCCTGATA
AGGGTCTTATCTTTTCTAATTCATACCACGGACTGGAGACTGGCTCTTAC
ACACATCTCGGTGACCGCGTGGCCTCTGCCTGATAAGGGTCTTATCTTTT
CTAATTCATACCACGGACTGGAGACTGGCTCCCACACACATCTCCGTGAC
CGTGTGGCCTCTGCCTGATAAGGGTCTTATCTTTTCTAATCCATACCACG
GACTGGAGATCGGCTCCCACACACATCTCCATGACCGCGTGGCCTCTGCC
TGATAAGGGTCTTATTTTTTCTAATCCATACTACGGACTGGAGATCGGCT
CCCACACACATCTCCGTGACCGTGTGGCCACTGCCTCCTAAGGGTCTTAT
CTTTTCTAATCCATACCACTGACTGGAGATTGGCTCCCACACACATCTCC
GTGACCGCGTGGCCACTGCCTCCTAAGGGTCTTATCTTTTCTAATCCGTA
TCACGGACTGGAGACTGGCTCCCACACACATCTCCGTGACCGCATGGCCA
CTGCCTCCTAAGGGTCTTATCTTTTCTAATCCACACCACTGACTGGAGAT
CGGCTCCCACACACATCTCCGTGACCGCGTGGCCACTGCCTCCTAAGGGT
CTTATCTTTTCTAATCCATATCACGGACTGGAGACTGGCTCCCACACACA
TCTCCGTGACCGCGTGGCCACTGCCTCCTAAGGGTCTTATCTTTTCTAAT
CCACACCACTGACTGGAGATC
 A
A
 44 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(41): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0034g0126
a0001c0001t0069g0012
a0001c0001t0094g0129
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0110g0127
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0123g0123
a0001c0001t0128g0132
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0006c0012t0129g0140
 44 HG00423.hp2
HG00741.hp2
HG01081.hp2
others(41): Show 
HG00423.hp2
HG00741.hp2
HG01081.hp2
HG01175.hp2
HG01192.hp2
HG01255.hp2
HG01256.hp2
HG01361.hp2
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp2
HG01928.hp2
HG01978.hp2
HG02040.hp2
HG02056.hp2
HG02083.hp2
HG02109.hp2
HG02129.hp2
HG02132.hp2
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02602.hp2
HG03492.hp2
HG03688.hp2
HG04184.hp2
HG04199.hp2
NA18940.hp2
NA18945.hp2
NA18950.hp1
NA18961.hp1
NA18967.hp2
NA18978.hp2
NA18983.hp2
NA18987.hp2
NA19009.hp2
NA19060.hp2
NA19065.hp2
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19079.hp2
NA19081.hp2
 intron_variant MODIFIER c.608+6506_608+7525d
others(2): Show 
c.608+6506_608+7525del
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 645765
chr17:645792 T
T
 C
C
 10 a0001c0002t0078g0041
a0001c0005t0010g0008
a0001c0005t0019g0006
others(7): Show 
a0001c0002t0078g0041
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
 10 HG02135.hp2
HG02602.hp1
HG03516.hp2
others(7): Show 
HG02135.hp2
HG02602.hp1
HG03516.hp2
NA18747.hp1
NA18960.hp2
NA18994.hp2
NA19000.hp2
NA19010.hp2
NA19087.hp1
NA19091.hp1
 intron_variant MODIFIER c.608+7499A>G
c.608+7499A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 645792
chr17:645832 A
A
 G
G
 30 a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
others(27): Show 
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
 30 HG01257.hp2
HG01516.hp2
HG01517.hp1
others(27): Show 
HG01257.hp2
HG01516.hp2
HG01517.hp1
HG02074.hp1
HG02109.hp1
HG03831.hp2
NA18612.hp2
NA18906.hp1
NA18945.hp1
NA18950.hp2
NA18957.hp1
NA18959.hp1
NA18961.hp2
NA18962.hp1
NA18977.hp1
NA18978.hp1
NA18984.hp1
NA18986.hp2
NA18990.hp1
NA18994.hp1
NA19011.hp2
NA19060.hp1
NA19064.hp1
NA19068.hp1
NA19080.hp1
NA19081.hp1
NA19087.hp2
NA19091.hp2
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.608+7459T>C
c.608+7459T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 645832
chr17:645856 T
T
 C
C
 31 a0001c0001t0084g0046
a0003c0004t0003g0015
a0003c0004t0003g0018
others(28): Show 
a0001c0001t0084g0046
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
 31 HG01257.hp2
HG01516.hp2
HG01517.hp1
others(28): Show 
HG01257.hp2
HG01516.hp2
HG01517.hp1
HG02074.hp1
HG02109.hp1
HG03516.hp1
HG03831.hp2
NA18612.hp2
NA18906.hp1
NA18945.hp1
NA18950.hp2
NA18957.hp1
NA18959.hp1
NA18961.hp2
NA18962.hp1
NA18977.hp1
NA18978.hp1
NA18984.hp1
NA18986.hp2
NA18990.hp1
NA18994.hp1
NA19011.hp2
NA19060.hp1
NA19064.hp1
NA19068.hp1
NA19080.hp1
NA19081.hp1
NA19087.hp2
NA19091.hp2
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.608+7435A>G
c.608+7435A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 645856
chr17:645857 T
T
 C
C
 31 a0001c0001t0084g0046
a0003c0004t0003g0015
a0003c0004t0003g0018
others(28): Show 
a0001c0001t0084g0046
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
 31 HG01257.hp2
HG01516.hp2
HG01517.hp1
others(28): Show 
HG01257.hp2
HG01516.hp2
HG01517.hp1
HG02074.hp1
HG02109.hp1
HG03516.hp1
HG03831.hp2
NA18612.hp2
NA18906.hp1
NA18945.hp1
NA18950.hp2
NA18957.hp1
NA18959.hp1
NA18961.hp2
NA18962.hp1
NA18977.hp1
NA18978.hp1
NA18984.hp1
NA18986.hp2
NA18990.hp1
NA18994.hp1
NA19011.hp2
NA19060.hp1
NA19064.hp1
NA19068.hp1
NA19080.hp1
NA19081.hp1
NA19087.hp2
NA19091.hp2
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.608+7434A>G
c.608+7434A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 645857
chr17:645876 G
G
 A
A
 30 a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
others(27): Show 
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
 30 HG01257.hp2
HG01516.hp2
HG01517.hp1
others(27): Show 
HG01257.hp2
HG01516.hp2
HG01517.hp1
HG02074.hp1
HG02109.hp1
HG03831.hp2
NA18612.hp2
NA18906.hp1
NA18945.hp1
NA18950.hp2
NA18957.hp1
NA18959.hp1
NA18961.hp2
NA18962.hp1
NA18977.hp1
NA18978.hp1
NA18984.hp1
NA18986.hp2
NA18990.hp1
NA18994.hp1
NA19011.hp2
NA19060.hp1
NA19064.hp1
NA19068.hp1
NA19080.hp1
NA19081.hp1
NA19087.hp2
NA19091.hp2
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.608+7415C>T
c.608+7415C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 645876
chr17:645882 T
T
 C
C
 30 a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
others(27): Show 
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
 30 HG01257.hp2
HG01516.hp2
HG01517.hp1
others(27): Show 
HG01257.hp2
HG01516.hp2
HG01517.hp1
HG02074.hp1
HG02109.hp1
HG03831.hp2
NA18612.hp2
NA18906.hp1
NA18945.hp1
NA18950.hp2
NA18957.hp1
NA18959.hp1
NA18961.hp2
NA18962.hp1
NA18977.hp1
NA18978.hp1
NA18984.hp1
NA18986.hp2
NA18990.hp1
NA18994.hp1
NA19011.hp2
NA19060.hp1
NA19064.hp1
NA19068.hp1
NA19080.hp1
NA19081.hp1
NA19087.hp2
NA19091.hp2
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.608+7409A>G
c.608+7409A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 645882
chr17:645884 T
T
 A
A
 30 a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
others(27): Show 
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
 30 HG01257.hp2
HG01516.hp2
HG01517.hp1
others(27): Show 
HG01257.hp2
HG01516.hp2
HG01517.hp1
HG02074.hp1
HG02109.hp1
HG03831.hp2
NA18612.hp2
NA18906.hp1
NA18945.hp1
NA18950.hp2
NA18957.hp1
NA18959.hp1
NA18961.hp2
NA18962.hp1
NA18977.hp1
NA18978.hp1
NA18984.hp1
NA18986.hp2
NA18990.hp1
NA18994.hp1
NA19011.hp2
NA19060.hp1
NA19064.hp1
NA19068.hp1
NA19080.hp1
NA19081.hp1
NA19087.hp2
NA19091.hp2
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.608+7407A>T
c.608+7407A>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 645884
chr17:645891 G
G
 C
C
 30 a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
others(27): Show 
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
 30 HG01257.hp2
HG01516.hp2
HG01517.hp1
others(27): Show 
HG01257.hp2
HG01516.hp2
HG01517.hp1
HG02074.hp1
HG02109.hp1
HG03831.hp2
NA18612.hp2
NA18906.hp1
NA18945.hp1
NA18950.hp2
NA18957.hp1
NA18959.hp1
NA18961.hp2
NA18962.hp1
NA18977.hp1
NA18978.hp1
NA18984.hp1
NA18986.hp2
NA18990.hp1
NA18994.hp1
NA19011.hp2
NA19060.hp1
NA19064.hp1
NA19068.hp1
NA19080.hp1
NA19081.hp1
NA19087.hp2
NA19091.hp2
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.608+7400C>G
c.608+7400C>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 645891
chr17:645892 A
A
 C
C
 30 a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
others(27): Show 
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
 30 HG01257.hp2
HG01516.hp2
HG01517.hp1
others(27): Show 
HG01257.hp2
HG01516.hp2
HG01517.hp1
HG02074.hp1
HG02109.hp1
HG03831.hp2
NA18612.hp2
NA18906.hp1
NA18945.hp1
NA18950.hp2
NA18957.hp1
NA18959.hp1
NA18961.hp2
NA18962.hp1
NA18977.hp1
NA18978.hp1
NA18984.hp1
NA18986.hp2
NA18990.hp1
NA18994.hp1
NA19011.hp2
NA19060.hp1
NA19064.hp1
NA19068.hp1
NA19080.hp1
NA19081.hp1
NA19087.hp2
NA19091.hp2
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.608+7399T>G
c.608+7399T>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 645892
chr17:645915 T
T
 C
C
 30 a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
others(27): Show 
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
 30 HG01257.hp2
HG01516.hp2
HG01517.hp1
others(27): Show 
HG01257.hp2
HG01516.hp2
HG01517.hp1
HG02074.hp1
HG02109.hp1
HG03831.hp2
NA18612.hp2
NA18906.hp1
NA18945.hp1
NA18950.hp2
NA18957.hp1
NA18959.hp1
NA18961.hp2
NA18962.hp1
NA18977.hp1
NA18978.hp1
NA18984.hp1
NA18986.hp2
NA18990.hp1
NA18994.hp1
NA19011.hp2
NA19060.hp1
NA19064.hp1
NA19068.hp1
NA19080.hp1
NA19081.hp1
NA19087.hp2
NA19091.hp2
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.608+7376A>G
c.608+7376A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 645915
chr17:645920 C
C
 T
T
 30 a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
others(27): Show 
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
 30 HG01257.hp2
HG01516.hp2
HG01517.hp1
others(27): Show 
HG01257.hp2
HG01516.hp2
HG01517.hp1
HG02074.hp1
HG02109.hp1
HG03831.hp2
NA18612.hp2
NA18906.hp1
NA18945.hp1
NA18950.hp2
NA18957.hp1
NA18959.hp1
NA18961.hp2
NA18962.hp1
NA18977.hp1
NA18978.hp1
NA18984.hp1
NA18986.hp2
NA18990.hp1
NA18994.hp1
NA19011.hp2
NA19060.hp1
NA19064.hp1
NA19068.hp1
NA19080.hp1
NA19081.hp1
NA19087.hp2
NA19091.hp2
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.608+7371G>A
c.608+7371G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 645920
chr17:645954 C
C
 T
T
 1 a0001c0002t0086g0221
a0001c0002t0086g0221
 1 HG02145.hp1
HG02145.hp1
 intron_variant MODIFIER c.608+7337G>A
c.608+7337G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 645954
chr17:645960 C
C
 CGCGTGGC
others(420): Show 
CGCGTGGCCACTGCCTCCTAAGGGTCTTATCTTTTCTAATCCGTATCACG
ACTGGAGACTGACTCCCACACACATCTCCGTGACCGCGTGGCCACTGCCT
CCTAAGGGTCTTATCTTTTCTAATCCGTATCACGGACTGGAGACTGGCTC
CCACACACATCTCCGTGACCGCGTGGCCACTGCCTCCTAAGGGTCTTATC
TTTTCTAATCCACACCACTGACTGGAGATCGGCTCCCACACACATCTCTG
TGACCGCGTGGCCACTGCCTCCTAAGGGTCTTATCTTTTCTAATCCACAC
CACTGACTGGAGATCGGCTCCCACACACACAGGCTCCGTGACCGCGTGGC
CACTGCCTCCTAAGGGTCTTATCTTTTCTAATCTGTATCACGGACTGGAG
ACTGGCTCCCACACACATCTCCGTGACT
 1 a0003c0004t0022g0004
a0003c0004t0022g0004
 1 NA18961.hp2
NA18961.hp2
 intron_variant MODIFIER c.608+7330_608+7331i
others(429): Show 
c.608+7330_608+7331insAGTCACGGAGATGTGTGTGGGAGCCAGT
CTCCAGTCCGTGATACAGATTAGAAAAGATAAGACCCTTAGGAGGCAGTG
GCCACGCGGTCACGGAGCCTGTGTGTGTGGGAGCCGATCTCCAGTCAGTG
GTGTGGATTAGAAAAGATAAGACCCTTAGGAGGCAGTGGCCACGCGGTCA
CAGAGATGTGTGTGGGAGCCGATCTCCAGTCAGTGGTGTGGATTAGAAAA
GATAAGACCCTTAGGAGGCAGTGGCCACGCGGTCACGGAGATGTGTGTGG
GAGCCAGTCTCCAGTCCGTGATACGGATTAGAAAAGATAAGACCCTTAGG
AGGCAGTGGCCACGCGGTCACGGAGATGTGTGTGGGAGTCAGTCTCCAGT
CGTGATACGGATTAGAAAAGATAAGACCCTTAGGAGGCAGTGGCCACGC
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 645960
chr17:645962 T
T
 C
C
 30 a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
others(27): Show 
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
 30 HG01257.hp2
HG01516.hp2
HG01517.hp1
others(27): Show 
HG01257.hp2
HG01516.hp2
HG01517.hp1
HG02074.hp1
HG02109.hp1
HG03831.hp2
NA18612.hp2
NA18906.hp1
NA18945.hp1
NA18950.hp2
NA18957.hp1
NA18959.hp1
NA18961.hp2
NA18962.hp1
NA18977.hp1
NA18978.hp1
NA18984.hp1
NA18986.hp2
NA18990.hp1
NA18994.hp1
NA19011.hp2
NA19060.hp1
NA19064.hp1
NA19068.hp1
NA19080.hp1
NA19081.hp1
NA19087.hp2
NA19091.hp2
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.608+7329A>G
c.608+7329A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 645962
chr17:646001 C
C
 CGTATCAC
others(333): Show 
CGTATCACGGACTGGAGACTGACTCCCACACACATCTCCGTGACCGCGTG
GCCACTGCCTCCTAAGGGTCTTATCTTTTCTAATCCGTATCACGGACTGG
AGACTGGCTCCCACACACATCTCCGTGACCGCGTGGCCACTGCCTCCTAA
GGGTCTTATCTTTTCTAATCCACACCACTGACTGGAGATCGGCTCCCACA
CACATCTCTGTGACCGCGTGGCCACTGCCTCCTAAGGGTCTTATCTTTTC
TAATCCACACCACTGACTGGAGATCGGCTCCCACACACAGCTCCGTGACC
GCGTGGCCACTGCCTCCTAAGGGTCTTATCTTTTCTAATCT
 29 a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
others(26): Show 
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
 29 HG01257.hp2
HG01516.hp2
HG01517.hp1
others(26): Show 
HG01257.hp2
HG01516.hp2
HG01517.hp1
HG02074.hp1
HG02109.hp1
HG03831.hp2
NA18612.hp2
NA18906.hp1
NA18945.hp1
NA18950.hp2
NA18957.hp1
NA18959.hp1
NA18962.hp1
NA18977.hp1
NA18978.hp1
NA18984.hp1
NA18986.hp2
NA18990.hp1
NA18994.hp1
NA19011.hp2
NA19060.hp1
NA19064.hp1
NA19068.hp1
NA19080.hp1
NA19081.hp1
NA19087.hp2
NA19091.hp2
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.608+7289_608+7290i
others(342): Show 
c.608+7289_608+7290insAGATTAGAAAAGATAAGACCCTTAGGAG
GCAGTGGCCACGCGGTCACGGAGCTGTGTGTGGGAGCCGATCTCCAGTCA
GTGGTGTGGATTAGAAAAGATAAGACCCTTAGGAGGCAGTGGCCACGCGG
TCACAGAGATGTGTGTGGGAGCCGATCTCCAGTCAGTGGTGTGGATTAGA
AAAGATAAGACCCTTAGGAGGCAGTGGCCACGCGGTCACGGAGATGTGTG
TGGGAGCCAGTCTCCAGTCCGTGATACGGATTAGAAAAGATAAGACCCTT
AGGAGGCAGTGGCCACGCGGTCACGGAGATGTGTGTGGGAGTCAGTCTCC
AGTCCGTGATAC
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 646001
chr17:646002 A
A
 G
G
 30 a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
others(27): Show 
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
 30 HG01257.hp2
HG01516.hp2
HG01517.hp1
others(27): Show 
HG01257.hp2
HG01516.hp2
HG01517.hp1
HG02074.hp1
HG02109.hp1
HG03831.hp2
NA18612.hp2
NA18906.hp1
NA18945.hp1
NA18950.hp2
NA18957.hp1
NA18959.hp1
NA18961.hp2
NA18962.hp1
NA18977.hp1
NA18978.hp1
NA18984.hp1
NA18986.hp2
NA18990.hp1
NA18994.hp1
NA19011.hp2
NA19060.hp1
NA19064.hp1
NA19068.hp1
NA19080.hp1
NA19081.hp1
NA19087.hp2
NA19091.hp2
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.608+7289T>C
c.608+7289T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 646002
chr17:646039 G
G
 A
A
 1 a0001c0002t0001g0056
a0001c0002t0001g0056
 1 HG01167.hp2
HG01167.hp2
 intron_variant MODIFIER c.608+7252C>T
c.608+7252C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 646039
chr17:646039 G
G
 C
C
 30 a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
others(27): Show 
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
 30 HG01257.hp2
HG01516.hp2
HG01517.hp1
others(27): Show 
HG01257.hp2
HG01516.hp2
HG01517.hp1
HG02074.hp1
HG02109.hp1
HG03831.hp2
NA18612.hp2
NA18906.hp1
NA18945.hp1
NA18950.hp2
NA18957.hp1
NA18959.hp1
NA18961.hp2
NA18962.hp1
NA18977.hp1
NA18978.hp1
NA18984.hp1
NA18986.hp2
NA18990.hp1
NA18994.hp1
NA19011.hp2
NA19060.hp1
NA19064.hp1
NA19068.hp1
NA19080.hp1
NA19081.hp1
NA19087.hp2
NA19091.hp2
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.608+7252C>G
c.608+7252C>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 646039
chr17:646045 C
C
 T
T
 23 a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
others(20): Show 
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0060g0039
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
 23 HG01257.hp2
HG01516.hp2
HG01517.hp1
others(20): Show 
HG01257.hp2
HG01516.hp2
HG01517.hp1
HG02074.hp1
HG02109.hp1
HG03831.hp2
NA18612.hp2
NA18906.hp1
NA18950.hp2
NA18957.hp1
NA18959.hp1
NA18962.hp1
NA18977.hp1
NA18984.hp1
NA18986.hp2
NA18990.hp1
NA18994.hp1
NA19011.hp2
NA19068.hp1
NA19080.hp1
NA19087.hp2
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.608+7246G>A
c.608+7246G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 646045
chr17:646054 T
T
 A
A
 30 a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
others(27): Show 
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
 30 HG01257.hp2
HG01516.hp2
HG01517.hp1
others(27): Show 
HG01257.hp2
HG01516.hp2
HG01517.hp1
HG02074.hp1
HG02109.hp1
HG03831.hp2
NA18612.hp2
NA18906.hp1
NA18945.hp1
NA18950.hp2
NA18957.hp1
NA18959.hp1
NA18961.hp2
NA18962.hp1
NA18977.hp1
NA18978.hp1
NA18984.hp1
NA18986.hp2
NA18990.hp1
NA18994.hp1
NA19011.hp2
NA19060.hp1
NA19064.hp1
NA19068.hp1
NA19080.hp1
NA19081.hp1
NA19087.hp2
NA19091.hp2
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.608+7237A>T
c.608+7237A>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 646054
chr17:646061 G
G
 C
C
 30 a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
others(27): Show 
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
 30 HG01257.hp2
HG01516.hp2
HG01517.hp1
others(27): Show 
HG01257.hp2
HG01516.hp2
HG01517.hp1
HG02074.hp1
HG02109.hp1
HG03831.hp2
NA18612.hp2
NA18906.hp1
NA18945.hp1
NA18950.hp2
NA18957.hp1
NA18959.hp1
NA18961.hp2
NA18962.hp1
NA18977.hp1
NA18978.hp1
NA18984.hp1
NA18986.hp2
NA18990.hp1
NA18994.hp1
NA19011.hp2
NA19060.hp1
NA19064.hp1
NA19068.hp1
NA19080.hp1
NA19081.hp1
NA19087.hp2
NA19091.hp2
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.608+7230C>G
c.608+7230C>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 646061
chr17:646062 A
A
 C
C
 30 a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
others(27): Show 
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
 30 HG01257.hp2
HG01516.hp2
HG01517.hp1
others(27): Show 
HG01257.hp2
HG01516.hp2
HG01517.hp1
HG02074.hp1
HG02109.hp1
HG03831.hp2
NA18612.hp2
NA18906.hp1
NA18945.hp1
NA18950.hp2
NA18957.hp1
NA18959.hp1
NA18961.hp2
NA18962.hp1
NA18977.hp1
NA18978.hp1
NA18984.hp1
NA18986.hp2
NA18990.hp1
NA18994.hp1
NA19011.hp2
NA19060.hp1
NA19064.hp1
NA19068.hp1
NA19080.hp1
NA19081.hp1
NA19087.hp2
NA19091.hp2
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.608+7229T>G
c.608+7229T>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 646062
chr17:646085 T
T
 C
C
 30 a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
others(27): Show 
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
 30 HG01257.hp2
HG01516.hp2
HG01517.hp1
others(27): Show 
HG01257.hp2
HG01516.hp2
HG01517.hp1
HG02074.hp1
HG02109.hp1
HG03831.hp2
NA18612.hp2
NA18906.hp1
NA18945.hp1
NA18950.hp2
NA18957.hp1
NA18959.hp1
NA18961.hp2
NA18962.hp1
NA18977.hp1
NA18978.hp1
NA18984.hp1
NA18986.hp2
NA18990.hp1
NA18994.hp1
NA19011.hp2
NA19060.hp1
NA19064.hp1
NA19068.hp1
NA19080.hp1
NA19081.hp1
NA19087.hp2
NA19091.hp2
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.608+7206A>G
c.608+7206A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 646085
chr17:646087 A
A
 G
G
 30 a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
others(27): Show 
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
 30 HG01257.hp2
HG01516.hp2
HG01517.hp1
others(27): Show 
HG01257.hp2
HG01516.hp2
HG01517.hp1
HG02074.hp1
HG02109.hp1
HG03831.hp2
NA18612.hp2
NA18906.hp1
NA18945.hp1
NA18950.hp2
NA18957.hp1
NA18959.hp1
NA18961.hp2
NA18962.hp1
NA18977.hp1
NA18978.hp1
NA18984.hp1
NA18986.hp2
NA18990.hp1
NA18994.hp1
NA19011.hp2
NA19060.hp1
NA19064.hp1
NA19068.hp1
NA19080.hp1
NA19081.hp1
NA19087.hp2
NA19091.hp2
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.608+7204T>C
c.608+7204T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 646087
chr17:646090 C
C
 T
T
 30 a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
others(27): Show 
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
 30 HG01257.hp2
HG01516.hp2
HG01517.hp1
others(27): Show 
HG01257.hp2
HG01516.hp2
HG01517.hp1
HG02074.hp1
HG02109.hp1
HG03831.hp2
NA18612.hp2
NA18906.hp1
NA18945.hp1
NA18950.hp2
NA18957.hp1
NA18959.hp1
NA18961.hp2
NA18962.hp1
NA18977.hp1
NA18978.hp1
NA18984.hp1
NA18986.hp2
NA18990.hp1
NA18994.hp1
NA19011.hp2
NA19060.hp1
NA19064.hp1
NA19068.hp1
NA19080.hp1
NA19081.hp1
NA19087.hp2
NA19091.hp2
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.608+7201G>A
c.608+7201G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 646090
chr17:646111 T
T
 C
C
 30 a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
others(27): Show 
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
 30 HG01257.hp2
HG01516.hp2
HG01517.hp1
others(27): Show 
HG01257.hp2
HG01516.hp2
HG01517.hp1
HG02074.hp1
HG02109.hp1
HG03831.hp2
NA18612.hp2
NA18906.hp1
NA18945.hp1
NA18950.hp2
NA18957.hp1
NA18959.hp1
NA18961.hp2
NA18962.hp1
NA18977.hp1
NA18978.hp1
NA18984.hp1
NA18986.hp2
NA18990.hp1
NA18994.hp1
NA19011.hp2
NA19060.hp1
NA19064.hp1
NA19068.hp1
NA19080.hp1
NA19081.hp1
NA19087.hp2
NA19091.hp2
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.608+7180A>G
c.608+7180A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 646111
chr17:646112 T
T
 C
C
 30 a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
others(27): Show 
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
 30 HG01257.hp2
HG01516.hp2
HG01517.hp1
others(27): Show 
HG01257.hp2
HG01516.hp2
HG01517.hp1
HG02074.hp1
HG02109.hp1
HG03831.hp2
NA18612.hp2
NA18906.hp1
NA18945.hp1
NA18950.hp2
NA18957.hp1
NA18959.hp1
NA18961.hp2
NA18962.hp1
NA18977.hp1
NA18978.hp1
NA18984.hp1
NA18986.hp2
NA18990.hp1
NA18994.hp1
NA19011.hp2
NA19060.hp1
NA19064.hp1
NA19068.hp1
NA19080.hp1
NA19081.hp1
NA19087.hp2
NA19091.hp2
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.608+7179A>G
c.608+7179A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 646112
chr17:646124 G
G
 C
C
 39 a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
others(36): Show 
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
 39 HG01257.hp2
HG01516.hp2
HG01517.hp1
others(36): Show 
HG01257.hp2
HG01516.hp2
HG01517.hp1
HG02074.hp1
HG02109.hp1
HG02135.hp2
HG02602.hp1
HG03831.hp2
NA18612.hp2
NA18747.hp1
NA18906.hp1
NA18945.hp1
NA18950.hp2
NA18957.hp1
NA18959.hp1
NA18960.hp2
NA18961.hp2
NA18962.hp1
NA18977.hp1
NA18978.hp1
NA18984.hp1
NA18986.hp2
NA18990.hp1
NA18994.hp1
NA18994.hp2
NA19000.hp2
NA19010.hp2
NA19011.hp2
NA19060.hp1
NA19064.hp1
NA19068.hp1
NA19080.hp1
NA19081.hp1
NA19087.hp1
NA19087.hp2
NA19091.hp1
NA19091.hp2
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.608+7167C>G
c.608+7167C>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 646124
chr17:646139 T
T
 A
A
 30 a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
others(27): Show 
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
 30 HG01257.hp2
HG01516.hp2
HG01517.hp1
others(27): Show 
HG01257.hp2
HG01516.hp2
HG01517.hp1
HG02074.hp1
HG02109.hp1
HG03831.hp2
NA18612.hp2
NA18906.hp1
NA18945.hp1
NA18950.hp2
NA18957.hp1
NA18959.hp1
NA18961.hp2
NA18962.hp1
NA18977.hp1
NA18978.hp1
NA18984.hp1
NA18986.hp2
NA18990.hp1
NA18994.hp1
NA19011.hp2
NA19060.hp1
NA19064.hp1
NA19068.hp1
NA19080.hp1
NA19081.hp1
NA19087.hp2
NA19091.hp2
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.608+7152A>T
c.608+7152A>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 646139
chr17:646146 G
G
 C
C
 30 a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
others(27): Show 
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
 30 HG01257.hp2
HG01516.hp2
HG01517.hp1
others(27): Show 
HG01257.hp2
HG01516.hp2
HG01517.hp1
HG02074.hp1
HG02109.hp1
HG03831.hp2
NA18612.hp2
NA18906.hp1
NA18945.hp1
NA18950.hp2
NA18957.hp1
NA18959.hp1
NA18961.hp2
NA18962.hp1
NA18977.hp1
NA18978.hp1
NA18984.hp1
NA18986.hp2
NA18990.hp1
NA18994.hp1
NA19011.hp2
NA19060.hp1
NA19064.hp1
NA19068.hp1
NA19080.hp1
NA19081.hp1
NA19087.hp2
NA19091.hp2
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.608+7145C>G
c.608+7145C>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 646146
chr17:646147 A
A
 C
C
 30 a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
others(27): Show 
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
 30 HG01257.hp2
HG01516.hp2
HG01517.hp1
others(27): Show 
HG01257.hp2
HG01516.hp2
HG01517.hp1
HG02074.hp1
HG02109.hp1
HG03831.hp2
NA18612.hp2
NA18906.hp1
NA18945.hp1
NA18950.hp2
NA18957.hp1
NA18959.hp1
NA18961.hp2
NA18962.hp1
NA18977.hp1
NA18978.hp1
NA18984.hp1
NA18986.hp2
NA18990.hp1
NA18994.hp1
NA19011.hp2
NA19060.hp1
NA19064.hp1
NA19068.hp1
NA19080.hp1
NA19081.hp1
NA19087.hp2
NA19091.hp2
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.608+7144T>G
c.608+7144T>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 646147
chr17:646170 T
T
 C
C
 31 a0002c0003t0018g0172
a0003c0004t0003g0015
a0003c0004t0003g0018
others(28): Show 
a0002c0003t0018g0172
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
 31 HG01257.hp2
HG01516.hp2
HG01517.hp1
others(28): Show 
HG01257.hp2
HG01516.hp2
HG01517.hp1
HG02074.hp1
HG02109.hp1
HG02129.hp1
HG03831.hp2
NA18612.hp2
NA18906.hp1
NA18945.hp1
NA18950.hp2
NA18957.hp1
NA18959.hp1
NA18961.hp2
NA18962.hp1
NA18977.hp1
NA18978.hp1
NA18984.hp1
NA18986.hp2
NA18990.hp1
NA18994.hp1
NA19011.hp2
NA19060.hp1
NA19064.hp1
NA19068.hp1
NA19080.hp1
NA19081.hp1
NA19087.hp2
NA19091.hp2
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.608+7121A>G
c.608+7121A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 646170
chr17:646172 A
A
 G
G
 29 a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
others(26): Show 
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
 29 HG01257.hp2
HG01516.hp2
HG01517.hp1
others(26): Show 
HG01257.hp2
HG01516.hp2
HG01517.hp1
HG02074.hp1
HG02109.hp1
HG03831.hp2
NA18612.hp2
NA18906.hp1
NA18945.hp1
NA18950.hp2
NA18957.hp1
NA18959.hp1
NA18962.hp1
NA18977.hp1
NA18978.hp1
NA18984.hp1
NA18986.hp2
NA18990.hp1
NA18994.hp1
NA19011.hp2
NA19060.hp1
NA19064.hp1
NA19068.hp1
NA19080.hp1
NA19081.hp1
NA19087.hp2
NA19091.hp2
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.608+7119T>C
c.608+7119T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 646172
chr17:646173 T
T
 C
C
 1 a0003c0004t0022g0004
a0003c0004t0022g0004
 1 NA18961.hp2
NA18961.hp2
 intron_variant MODIFIER c.608+7118A>G
c.608+7118A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 646173
chr17:646175 C
C
 T
T
 29 a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
others(26): Show 
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
 29 HG01257.hp2
HG01516.hp2
HG01517.hp1
others(26): Show 
HG01257.hp2
HG01516.hp2
HG01517.hp1
HG02074.hp1
HG02109.hp1
HG03831.hp2
NA18612.hp2
NA18906.hp1
NA18945.hp1
NA18950.hp2
NA18957.hp1
NA18959.hp1
NA18962.hp1
NA18977.hp1
NA18978.hp1
NA18984.hp1
NA18986.hp2
NA18990.hp1
NA18994.hp1
NA19011.hp2
NA19060.hp1
NA19064.hp1
NA19068.hp1
NA19080.hp1
NA19081.hp1
NA19087.hp2
NA19091.hp2
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.608+7116G>A
c.608+7116G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 646175
chr17:646179 G
G
 T
T
 1 a0003c0004t0022g0004
a0003c0004t0022g0004
 1 NA18961.hp2
NA18961.hp2
 intron_variant MODIFIER c.608+7112C>A
c.608+7112C>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 646179
chr17:646189 C
C
 T
T
 2 a0002c0003t0018g0172
a0003c0004t0022g0004
a0002c0003t0018g0172
a0003c0004t0022g0004
 2 HG02129.hp1
NA18961.hp2
HG02129.hp1
NA18961.hp2
 intron_variant MODIFIER c.608+7102G>A
c.608+7102G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 646189
chr17:646190 T
T
 C
C
 2 a0002c0003t0018g0172
a0003c0004t0022g0004
a0002c0003t0018g0172
a0003c0004t0022g0004
 2 HG02129.hp1
NA18961.hp2
HG02129.hp1
NA18961.hp2
 intron_variant MODIFIER c.608+7101A>G
c.608+7101A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 646190
chr17:646209 C
C
 T
T
 1 a0003c0004t0022g0004
a0003c0004t0022g0004
 1 NA18961.hp2
NA18961.hp2
 intron_variant MODIFIER c.608+7082G>A
c.608+7082G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 646209
chr17:646210 G
G
 A
A
 54 a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
others(51): Show 
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0016t0052g0099
a0002c0003t0018g0172
a0002c0003t0073g0068
 54 HG00099.hp2
HG00140.hp2
HG00280.hp1
others(51): Show 
HG00099.hp2
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00621.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01099.hp2
HG01106.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01361.hp1
HG01496.hp1
HG01515.hp2
HG01978.hp1
HG01981.hp2
HG02129.hp1
HG02135.hp1
HG02738.hp1
HG02886.hp1
HG03491.hp1
HG03492.hp1
HG03688.hp1
HG04204.hp2
NA18906.hp2
NA18940.hp1
NA18944.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18959.hp2
NA18960.hp1
NA18962.hp2
NA18967.hp1
NA18973.hp1
NA18977.hp2
NA18979.hp1
NA19007.hp1
NA19009.hp1
NA19065.hp1
NA19070.hp1
NA19079.hp1
NA19084.hp1
NA19090.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.608+7081C>T
c.608+7081C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 646210
chr17:646217 T
T
 C
C
 31 a0002c0003t0018g0172
a0003c0004t0003g0015
a0003c0004t0003g0018
others(28): Show 
a0002c0003t0018g0172
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
 31 HG01257.hp2
HG01516.hp2
HG01517.hp1
others(28): Show 
HG01257.hp2
HG01516.hp2
HG01517.hp1
HG02074.hp1
HG02109.hp1
HG02129.hp1
HG03831.hp2
NA18612.hp2
NA18906.hp1
NA18945.hp1
NA18950.hp2
NA18957.hp1
NA18959.hp1
NA18961.hp2
NA18962.hp1
NA18977.hp1
NA18978.hp1
NA18984.hp1
NA18986.hp2
NA18990.hp1
NA18994.hp1
NA19011.hp2
NA19060.hp1
NA19064.hp1
NA19068.hp1
NA19080.hp1
NA19081.hp1
NA19087.hp2
NA19091.hp2
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.608+7074A>G
c.608+7074A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 646217
chr17:646224 T
T
 A
A
 30 a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
others(27): Show 
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
 30 HG01257.hp2
HG01516.hp2
HG01517.hp1
others(27): Show 
HG01257.hp2
HG01516.hp2
HG01517.hp1
HG02074.hp1
HG02109.hp1
HG03831.hp2
NA18612.hp2
NA18906.hp1
NA18945.hp1
NA18950.hp2
NA18957.hp1
NA18959.hp1
NA18961.hp2
NA18962.hp1
NA18977.hp1
NA18978.hp1
NA18984.hp1
NA18986.hp2
NA18990.hp1
NA18994.hp1
NA19011.hp2
NA19060.hp1
NA19064.hp1
NA19068.hp1
NA19080.hp1
NA19081.hp1
NA19087.hp2
NA19091.hp2
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.608+7067A>T
c.608+7067A>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 646224
chr17:646231 G
G
 C
C
 30 a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
others(27): Show 
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
 30 HG01257.hp2
HG01516.hp2
HG01517.hp1
others(27): Show 
HG01257.hp2
HG01516.hp2
HG01517.hp1
HG02074.hp1
HG02109.hp1
HG03831.hp2
NA18612.hp2
NA18906.hp1
NA18945.hp1
NA18950.hp2
NA18957.hp1
NA18959.hp1
NA18961.hp2
NA18962.hp1
NA18977.hp1
NA18978.hp1
NA18984.hp1
NA18986.hp2
NA18990.hp1
NA18994.hp1
NA19011.hp2
NA19060.hp1
NA19064.hp1
NA19068.hp1
NA19080.hp1
NA19081.hp1
NA19087.hp2
NA19091.hp2
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.608+7060C>G
c.608+7060C>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 646231
chr17:646232 A
A
 C
C
 30 a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
others(27): Show 
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
 30 HG01257.hp2
HG01516.hp2
HG01517.hp1
others(27): Show 
HG01257.hp2
HG01516.hp2
HG01517.hp1
HG02074.hp1
HG02109.hp1
HG03831.hp2
NA18612.hp2
NA18906.hp1
NA18945.hp1
NA18950.hp2
NA18957.hp1
NA18959.hp1
NA18961.hp2
NA18962.hp1
NA18977.hp1
NA18978.hp1
NA18984.hp1
NA18986.hp2
NA18990.hp1
NA18994.hp1
NA19011.hp2
NA19060.hp1
NA19064.hp1
NA19068.hp1
NA19080.hp1
NA19081.hp1
NA19087.hp2
NA19091.hp2
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.608+7059T>G
c.608+7059T>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 646232
chr17:646245 C
C
 T
T
 1 a0002c0003t0018g0172
a0002c0003t0018g0172
 1 HG02129.hp1
HG02129.hp1
 intron_variant MODIFIER c.608+7046G>A
c.608+7046G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 646245
chr17:646258 T
T
 C
C
 30 a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
others(27): Show 
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
 30 HG01257.hp2
HG01516.hp2
HG01517.hp1
others(27): Show 
HG01257.hp2
HG01516.hp2
HG01517.hp1
HG02074.hp1
HG02109.hp1
HG03831.hp2
NA18612.hp2
NA18906.hp1
NA18945.hp1
NA18950.hp2
NA18957.hp1
NA18959.hp1
NA18961.hp2
NA18962.hp1
NA18977.hp1
NA18978.hp1
NA18984.hp1
NA18986.hp2
NA18990.hp1
NA18994.hp1
NA19011.hp2
NA19060.hp1
NA19064.hp1
NA19068.hp1
NA19080.hp1
NA19081.hp1
NA19087.hp2
NA19091.hp2
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.608+7033A>G
c.608+7033A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 646258
chr17:646261 C
C
 T
T
 1 a0002c0003t0018g0172
a0002c0003t0018g0172
 1 HG02129.hp1
HG02129.hp1
 intron_variant MODIFIER c.608+7030G>A
c.608+7030G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 646261
chr17:646263 C
C
 T
T
 1 a0002c0003t0018g0172
a0002c0003t0018g0172
 1 HG02129.hp1
HG02129.hp1
 intron_variant MODIFIER c.608+7028G>A
c.608+7028G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 646263
chr17:646264 G
G
 T
T
 30 a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
others(27): Show 
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
 30 HG01257.hp2
HG01516.hp2
HG01517.hp1
others(27): Show 
HG01257.hp2
HG01516.hp2
HG01517.hp1
HG02074.hp1
HG02109.hp1
HG03831.hp2
NA18612.hp2
NA18906.hp1
NA18945.hp1
NA18950.hp2
NA18957.hp1
NA18959.hp1
NA18961.hp2
NA18962.hp1
NA18977.hp1
NA18978.hp1
NA18984.hp1
NA18986.hp2
NA18990.hp1
NA18994.hp1
NA19011.hp2
NA19060.hp1
NA19064.hp1
NA19068.hp1
NA19080.hp1
NA19081.hp1
NA19087.hp2
NA19091.hp2
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.608+7027C>A
c.608+7027C>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 646264
chr17:646276 G
G
 A
A
 13 a0001c0002t0017g0225
a0001c0002t0035g0219
a0001c0002t0038g0224
others(10): Show 
a0001c0002t0017g0225
a0001c0002t0035g0219
a0001c0002t0038g0224
a0001c0002t0100g0223
a0001c0002t0109g0222
a0001c0002t0125g0116
a0001c0002t0143g0226
a0001c0002t0149g0202
a0004c0008t0035g0203
a0004c0008t0103g0227
a0004c0008t0124g0229
a0004c0008t0133g0232
a0004c0008t0142g0228
 13 HG00099.hp1
HG00140.hp1
HG00438.hp1
others(10): Show 
HG00099.hp1
HG00140.hp1
HG00438.hp1
HG01346.hp1
HG01516.hp1
HG03942.hp2
HG04184.hp1
NA18944.hp2
NA18973.hp2
NA18990.hp2
NA19007.hp2
NA19011.hp1
NA19066.hp1
 intron_variant MODIFIER c.608+7015C>T
c.608+7015C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 646276
chr17:646294 C
C
 T
T
 29 a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
others(26): Show 
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
 29 HG01257.hp2
HG01516.hp2
HG01517.hp1
others(26): Show 
HG01257.hp2
HG01516.hp2
HG01517.hp1
HG02074.hp1
HG02109.hp1
HG03831.hp2
NA18612.hp2
NA18906.hp1
NA18945.hp1
NA18950.hp2
NA18957.hp1
NA18959.hp1
NA18962.hp1
NA18977.hp1
NA18978.hp1
NA18984.hp1
NA18986.hp2
NA18990.hp1
NA18994.hp1
NA19011.hp2
NA19060.hp1
NA19064.hp1
NA19068.hp1
NA19080.hp1
NA19081.hp1
NA19087.hp2
NA19091.hp2
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.608+6997G>A
c.608+6997G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 646294
chr17:646295 A
A
 G
G
 32 a0002c0003t0018g0172
a0002c0010t0038g0156
a0003c0004t0003g0015
others(29): Show 
a0002c0003t0018g0172
a0002c0010t0038g0156
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
 32 HG01257.hp2
HG01516.hp2
HG01517.hp1
others(29): Show 
HG01257.hp2
HG01516.hp2
HG01517.hp1
HG02074.hp1
HG02109.hp1
HG02129.hp1
HG03831.hp2
NA18612.hp2
NA18906.hp1
NA18945.hp1
NA18950.hp2
NA18957.hp1
NA18959.hp1
NA18961.hp2
NA18962.hp1
NA18977.hp1
NA18978.hp1
NA18984.hp1
NA18986.hp2
NA18990.hp1
NA18994.hp1
NA19011.hp2
NA19060.hp1
NA19064.hp1
NA19068.hp1
NA19080.hp1
NA19081.hp1
NA19087.hp2
NA19091.hp2
NA20805.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.608+6996T>C
c.608+6996T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 646295
chr17:646302 C
C
 T
T
 1 a0002c0003t0018g0172
a0002c0003t0018g0172
 1 HG02129.hp1
HG02129.hp1
 intron_variant MODIFIER c.608+6989G>A
c.608+6989G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 646302
chr17:646309 T
T
 A
A
 31 a0002c0003t0018g0172
a0003c0004t0003g0015
a0003c0004t0003g0018
others(28): Show 
a0002c0003t0018g0172
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
 31 HG01257.hp2
HG01516.hp2
HG01517.hp1
others(28): Show 
HG01257.hp2
HG01516.hp2
HG01517.hp1
HG02074.hp1
HG02109.hp1
HG02129.hp1
HG03831.hp2
NA18612.hp2
NA18906.hp1
NA18945.hp1
NA18950.hp2
NA18957.hp1
NA18959.hp1
NA18961.hp2
NA18962.hp1
NA18977.hp1
NA18978.hp1
NA18984.hp1
NA18986.hp2
NA18990.hp1
NA18994.hp1
NA19011.hp2
NA19060.hp1
NA19064.hp1
NA19068.hp1
NA19080.hp1
NA19081.hp1
NA19087.hp2
NA19091.hp2
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.608+6982A>T
c.608+6982A>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 646309
chr17:646316 G
G
 C
C
 31 a0002c0003t0018g0172
a0003c0004t0003g0015
a0003c0004t0003g0018
others(28): Show 
a0002c0003t0018g0172
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
 31 HG01257.hp2
HG01516.hp2
HG01517.hp1
others(28): Show 
HG01257.hp2
HG01516.hp2
HG01517.hp1
HG02074.hp1
HG02109.hp1
HG02129.hp1
HG03831.hp2
NA18612.hp2
NA18906.hp1
NA18945.hp1
NA18950.hp2
NA18957.hp1
NA18959.hp1
NA18961.hp2
NA18962.hp1
NA18977.hp1
NA18978.hp1
NA18984.hp1
NA18986.hp2
NA18990.hp1
NA18994.hp1
NA19011.hp2
NA19060.hp1
NA19064.hp1
NA19068.hp1
NA19080.hp1
NA19081.hp1
NA19087.hp2
NA19091.hp2
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.608+6975C>G
c.608+6975C>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 646316
chr17:646317 A
A
 C
C
 31 a0002c0003t0018g0172
a0003c0004t0003g0015
a0003c0004t0003g0018
others(28): Show 
a0002c0003t0018g0172
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
 31 HG01257.hp2
HG01516.hp2
HG01517.hp1
others(28): Show 
HG01257.hp2
HG01516.hp2
HG01517.hp1
HG02074.hp1
HG02109.hp1
HG02129.hp1
HG03831.hp2
NA18612.hp2
NA18906.hp1
NA18945.hp1
NA18950.hp2
NA18957.hp1
NA18959.hp1
NA18961.hp2
NA18962.hp1
NA18977.hp1
NA18978.hp1
NA18984.hp1
NA18986.hp2
NA18990.hp1
NA18994.hp1
NA19011.hp2
NA19060.hp1
NA19064.hp1
NA19068.hp1
NA19080.hp1
NA19081.hp1
NA19087.hp2
NA19091.hp2
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.608+6974T>G
c.608+6974T>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 646317
chr17:646330 T
T
 C
C
 31 a0002c0003t0018g0172
a0003c0004t0003g0015
a0003c0004t0003g0018
others(28): Show 
a0002c0003t0018g0172
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
 31 HG01257.hp2
HG01516.hp2
HG01517.hp1
others(28): Show 
HG01257.hp2
HG01516.hp2
HG01517.hp1
HG02074.hp1
HG02109.hp1
HG02129.hp1
HG03831.hp2
NA18612.hp2
NA18906.hp1
NA18945.hp1
NA18950.hp2
NA18957.hp1
NA18959.hp1
NA18961.hp2
NA18962.hp1
NA18977.hp1
NA18978.hp1
NA18984.hp1
NA18986.hp2
NA18990.hp1
NA18994.hp1
NA19011.hp2
NA19060.hp1
NA19064.hp1
NA19068.hp1
NA19080.hp1
NA19081.hp1
NA19087.hp2
NA19091.hp2
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.608+6961A>G
c.608+6961A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 646330
chr17:646342 A
A
 G
G
 1 a0003c0004t0022g0004
a0003c0004t0022g0004
 1 NA18961.hp2
NA18961.hp2
 intron_variant MODIFIER c.608+6949T>C
c.608+6949T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 646342
chr17:646343 T
T
 C
C
 29 a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
others(26): Show 
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
 29 HG01257.hp2
HG01516.hp2
HG01517.hp1
others(26): Show 
HG01257.hp2
HG01516.hp2
HG01517.hp1
HG02074.hp1
HG02109.hp1
HG03831.hp2
NA18612.hp2
NA18906.hp1
NA18945.hp1
NA18950.hp2
NA18957.hp1
NA18959.hp1
NA18962.hp1
NA18977.hp1
NA18978.hp1
NA18984.hp1
NA18986.hp2
NA18990.hp1
NA18994.hp1
NA19011.hp2
NA19060.hp1
NA19064.hp1
NA19068.hp1
NA19080.hp1
NA19081.hp1
NA19087.hp2
NA19091.hp2
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.608+6948A>G
c.608+6948A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 646343
chr17:646345 C
C
 T
T
 1 a0003c0004t0022g0004
a0003c0004t0022g0004
 1 NA18961.hp2
NA18961.hp2
 intron_variant MODIFIER c.608+6946G>A
c.608+6946G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 646345
chr17:646346 T
T
 C
C
 31 a0002c0003t0018g0172
a0003c0004t0003g0015
a0003c0004t0003g0018
others(28): Show 
a0002c0003t0018g0172
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
 31 HG01257.hp2
HG01516.hp2
HG01517.hp1
others(28): Show 
HG01257.hp2
HG01516.hp2
HG01517.hp1
HG02074.hp1
HG02109.hp1
HG02129.hp1
HG03831.hp2
NA18612.hp2
NA18906.hp1
NA18945.hp1
NA18950.hp2
NA18957.hp1
NA18959.hp1
NA18961.hp2
NA18962.hp1
NA18977.hp1
NA18978.hp1
NA18984.hp1
NA18986.hp2
NA18990.hp1
NA18994.hp1
NA19011.hp2
NA19060.hp1
NA19064.hp1
NA19068.hp1
NA19080.hp1
NA19081.hp1
NA19087.hp2
NA19091.hp2
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.608+6945A>G
c.608+6945A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 646346
chr17:646349 G
G
 T
T
 30 a0002c0003t0018g0172
a0003c0004t0003g0015
a0003c0004t0003g0018
others(27): Show 
a0002c0003t0018g0172
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
 30 HG01257.hp2
HG01516.hp2
HG01517.hp1
others(27): Show 
HG01257.hp2
HG01516.hp2
HG01517.hp1
HG02074.hp1
HG02109.hp1
HG02129.hp1
HG03831.hp2
NA18612.hp2
NA18906.hp1
NA18945.hp1
NA18950.hp2
NA18957.hp1
NA18959.hp1
NA18962.hp1
NA18977.hp1
NA18978.hp1
NA18984.hp1
NA18986.hp2
NA18990.hp1
NA18994.hp1
NA19011.hp2
NA19060.hp1
NA19064.hp1
NA19068.hp1
NA19080.hp1
NA19081.hp1
NA19087.hp2
NA19091.hp2
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.608+6942C>A
c.608+6942C>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 646349
chr17:646359 T
T
 C
C
 1 a0003c0004t0022g0004
a0003c0004t0022g0004
 1 NA18961.hp2
NA18961.hp2
 intron_variant MODIFIER c.608+6932A>G
c.608+6932A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 646359
chr17:646360 C
C
 T
T
 2 a0002c0003t0018g0172
a0003c0004t0022g0004
a0002c0003t0018g0172
a0003c0004t0022g0004
 2 HG02129.hp1
NA18961.hp2
HG02129.hp1
NA18961.hp2
 intron_variant MODIFIER c.608+6931G>A
c.608+6931G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 646360
chr17:646387 T
T
 C
C
 32 a0001c0001t0084g0046
a0002c0003t0018g0172
a0003c0004t0003g0015
others(29): Show 
a0001c0001t0084g0046
a0002c0003t0018g0172
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
 32 HG01257.hp2
HG01516.hp2
HG01517.hp1
others(29): Show 
HG01257.hp2
HG01516.hp2
HG01517.hp1
HG02074.hp1
HG02109.hp1
HG02129.hp1
HG03516.hp1
HG03831.hp2
NA18612.hp2
NA18906.hp1
NA18945.hp1
NA18950.hp2
NA18957.hp1
NA18959.hp1
NA18961.hp2
NA18962.hp1
NA18977.hp1
NA18978.hp1
NA18984.hp1
NA18986.hp2
NA18990.hp1
NA18994.hp1
NA19011.hp2
NA19060.hp1
NA19064.hp1
NA19068.hp1
NA19080.hp1
NA19081.hp1
NA19087.hp2
NA19091.hp2
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.608+6904A>G
c.608+6904A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 646387
chr17:646396 T
T
 C
C
 5 a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
others(2): Show 
a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0005t0080g0092
a0001c0011t0051g0091
 5 HG01074.hp2
NA18747.hp2
NA18955.hp2
others(2): Show 
HG01074.hp2
NA18747.hp2
NA18955.hp2
NA18984.hp2
NA19064.hp2
 intron_variant MODIFIER c.608+6895A>G
c.608+6895A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 646396
chr17:646427 A
A
 G
G
 30 a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
others(27): Show 
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
 30 HG01257.hp2
HG01516.hp2
HG01517.hp1
others(27): Show 
HG01257.hp2
HG01516.hp2
HG01517.hp1
HG02074.hp1
HG02109.hp1
HG03831.hp2
NA18612.hp2
NA18906.hp1
NA18945.hp1
NA18950.hp2
NA18957.hp1
NA18959.hp1
NA18961.hp2
NA18962.hp1
NA18977.hp1
NA18978.hp1
NA18984.hp1
NA18986.hp2
NA18990.hp1
NA18994.hp1
NA19011.hp2
NA19060.hp1
NA19064.hp1
NA19068.hp1
NA19080.hp1
NA19081.hp1
NA19087.hp2
NA19091.hp2
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.608+6864T>C
c.608+6864T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 646427
chr17:646428 T
T
 C
C
 1 a0002c0003t0018g0172
a0002c0003t0018g0172
 1 HG02129.hp1
HG02129.hp1
 intron_variant MODIFIER c.608+6863A>G
c.608+6863A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 646428
chr17:646430 C
C
 T
T
 30 a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
others(27): Show 
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
 30 HG01257.hp2
HG01516.hp2
HG01517.hp1
others(27): Show 
HG01257.hp2
HG01516.hp2
HG01517.hp1
HG02074.hp1
HG02109.hp1
HG03831.hp2
NA18612.hp2
NA18906.hp1
NA18945.hp1
NA18950.hp2
NA18957.hp1
NA18959.hp1
NA18961.hp2
NA18962.hp1
NA18977.hp1
NA18978.hp1
NA18984.hp1
NA18986.hp2
NA18990.hp1
NA18994.hp1
NA19011.hp2
NA19060.hp1
NA19064.hp1
NA19068.hp1
NA19080.hp1
NA19081.hp1
NA19087.hp2
NA19091.hp2
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.608+6861G>A
c.608+6861G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 646430
chr17:646434 T
T
 G
G
 30 a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
others(27): Show 
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
 30 HG01257.hp2
HG01516.hp2
HG01517.hp1
others(27): Show 
HG01257.hp2
HG01516.hp2
HG01517.hp1
HG02074.hp1
HG02109.hp1
HG03831.hp2
NA18612.hp2
NA18906.hp1
NA18945.hp1
NA18950.hp2
NA18957.hp1
NA18959.hp1
NA18961.hp2
NA18962.hp1
NA18977.hp1
NA18978.hp1
NA18984.hp1
NA18986.hp2
NA18990.hp1
NA18994.hp1
NA19011.hp2
NA19060.hp1
NA19064.hp1
NA19068.hp1
NA19080.hp1
NA19081.hp1
NA19087.hp2
NA19091.hp2
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.608+6857A>C
c.608+6857A>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 646434
chr17:646444 T
T
 C
C
 30 a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
others(27): Show 
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
 30 HG01257.hp2
HG01516.hp2
HG01517.hp1
others(27): Show 
HG01257.hp2
HG01516.hp2
HG01517.hp1
HG02074.hp1
HG02109.hp1
HG03831.hp2
NA18612.hp2
NA18906.hp1
NA18945.hp1
NA18950.hp2
NA18957.hp1
NA18959.hp1
NA18961.hp2
NA18962.hp1
NA18977.hp1
NA18978.hp1
NA18984.hp1
NA18986.hp2
NA18990.hp1
NA18994.hp1
NA19011.hp2
NA19060.hp1
NA19064.hp1
NA19068.hp1
NA19080.hp1
NA19081.hp1
NA19087.hp2
NA19091.hp2
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.608+6847A>G
c.608+6847A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 646444
chr17:646444 T
T
 TCGGCTCC
others(163): Show 
TCGGCTCCCACACACATCTCCGTGACCGCGTGGCCACTGCCTCCTAAGGG
TCTTATCTTTTCTAATCCACACCACTGACTGGAGATTGGCTCCCACACAC
ATCTCCGTGACCGCGTGGCCACTGCCTCCTAAGGGTCTTATCTTTTCTAA
TCCGTATCACGGACTGGAGAC
 5 a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
others(2): Show 
a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0005t0080g0092
a0001c0011t0051g0091
 5 HG01074.hp2
NA18747.hp2
NA18955.hp2
others(2): Show 
HG01074.hp2
NA18747.hp2
NA18955.hp2
NA18984.hp2
NA19064.hp2
 intron_variant MODIFIER c.608+6846_608+6847i
others(172): Show 
c.608+6846_608+6847insGTCTCCAGTCCGTGATACGGATTAGAAA
AGATAAGACCCTTAGGAGGCAGTGGCCACGCGGTCACGGAGATGTGTGTG
GGAGCCAATCTCCAGTCAGTGGTGTGGATTAGAAAAGATAAGACCCTTAG
GAGGCAGTGGCCACGCGGTCACGGAGATGTGTGTGGGAGCCG
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 646444
chr17:646444 T
T
 TCGGCTCC
others(248): Show 
TCGGCTCCCACACACATCTCCGTGACCGCGTGGCCACTGCCTCCTAAGGG
TCTTATCTTTTCTAATCCACACCACTGACTGGAGATTGGCTCCCACACAC
ATCTCCGTGACCGCGTGGCCACTGCCTCCTAAGGGTCTTATCTTTTCTAA
TCCGTATCACGGACTGGAGACTGGCTCCCACACACATCTCCGTGACCGCG
TGGCCACTGCCTCCTAAGGGTCTTATCTTTTCTAATCCGTATCACGGACT
GGAGAC
 1 a0001c0005t0019g0007
a0001c0005t0019g0007
 1 HG02602.hp1
HG02602.hp1
 intron_variant MODIFIER c.608+6846_608+6847i
others(257): Show 
c.608+6846_608+6847insGTCTCCAGTCCGTGATACGGATTAGAAA
AGATAAGACCCTTAGGAGGCAGTGGCCACGCGGTCACGGAGATGTGTGTG
GGAGCCAGTCTCCAGTCCGTGATACGGATTAGAAAAGATAAGACCCTTAG
GAGGCAGTGGCCACGCGGTCACGGAGATGTGTGTGGGAGCCAATCTCCAG
TCAGTGGTGTGGATTAGAAAAGATAAGACCCTTAGGAGGCAGTGGCCACG
CGGTCACGGAGATGTGTGTGGGAGCCG
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 646444
chr17:646444 T
T
 TCGGCTCC
others(673): Show 
TCGGCTCCCACACACATCTCCGTGACCGCGTGGCCACTGCCTCCTAAGGG
TCTTATCTTTTCTAATCCACACCACTGACTGGAGATTGGCTCCCACACAC
ATCTCCGTGACCGCGTGGCCACTGCCTCCTAAGGGTCTTATCTTTTCTAA
TCCGTATCACGGACTGGAGACTGGCTCCCACACACATCTCCGTGACCGCG
TGGCCACTGCCTCCTAAGGGTCTTATCTTTTCTAATCCGTATCACGGACT
GGAGACTGGCTCCCACACACATCTCCGTGACCGCGTGGCCACTGCCTCCT
AAGGGTCTTATCTTTTCTAATCCGTATCACGGACTGGAGACTGGCTCCCA
CACACATCTCCGTGACCGTGTGGCCACTGCCTCCTAAGGGTCTTATCTTT
TCTAATCCACACCACTGACTGGAGATCGGCTCCCACACACATCTCTGTGA
CCGCGTGGCCACTGCCTCCTAAGGGTCTTATCTTTTCTAATCCACACCAC
TGACTGGAGATCGGCTCCCACACACATCTCCGTGACCGCGTGGCCACTGC
CTCCTAAGGGTCTTATCTTTTCTAATCCGTATCACGGACTGGAGACTGGC
TCCCACACACATCTCCGTGACCGCGTGGCCACTGCCTCCTAAGGGTCTTA
TCTTTTCTAATCCGTATCACGGACTGGAGAC
 9 a0001c0002t0078g0041
a0001c0005t0010g0008
a0001c0005t0019g0006
others(6): Show 
a0001c0002t0078g0041
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
 9 HG02135.hp2
HG03516.hp2
NA18747.hp1
others(6): Show 
HG02135.hp2
HG03516.hp2
NA18747.hp1
NA18960.hp2
NA18994.hp2
NA19000.hp2
NA19010.hp2
NA19087.hp1
NA19091.hp1
 intron_variant MODIFIER c.608+6846_608+6847i
others(682): Show 
c.608+6846_608+6847insGTCTCCAGTCCGTGATACGGATTAGAAA
AGATAAGACCCTTAGGAGGCAGTGGCCACGCGGTCACGGAGATGTGTGTG
GGAGCCAGTCTCCAGTCCGTGATACGGATTAGAAAAGATAAGACCCTTAG
GAGGCAGTGGCCACGCGGTCACGGAGATGTGTGTGGGAGCCGATCTCCAG
TCAGTGGTGTGGATTAGAAAAGATAAGACCCTTAGGAGGCAGTGGCCACG
CGGTCACAGAGATGTGTGTGGGAGCCGATCTCCAGTCAGTGGTGTGGATT
AGAAAAGATAAGACCCTTAGGAGGCAGTGGCCACACGGTCACGGAGATGT
GTGTGGGAGCCAGTCTCCAGTCCGTGATACGGATTAGAAAAGATAAGACC
CTTAGGAGGCAGTGGCCACGCGGTCACGGAGATGTGTGTGGGAGCCAGTC
TCCAGTCCGTGATACGGATTAGAAAAGATAAGACCCTTAGGAGGCAGTGG
CCACGCGGTCACGGAGATGTGTGTGGGAGCCAGTCTCCAGTCCGTGATAC
GGATTAGAAAAGATAAGACCCTTAGGAGGCAGTGGCCACGCGGTCACGGA
GATGTGTGTGGGAGCCAATCTCCAGTCAGTGGTGTGGATTAGAAAAGATA
AGACCCTTAGGAGGCAGTGGCCACGCGGTCACGGAGATGTGTGTGGGAGC
CG
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 646444
chr17:646444 T
T
 TTGGCTCC
others(1268): Show 
TTGGCTCCCACACACATCTCCGTGACCACGTGGCCACTGCCTCCTAAGGG
TCTTATCTTTTCTAATCCACACCACTGACTGGAGATTGGCTCCCACACAC
ATCTCCGTGACCGCGTGGCCACTGCCTCCTAAGGGTCTTATCTTTTCTAA
TTCATACCACGGACTGGAGACTGGCTCCCACACACATCTCCGTGACCGTG
TGGCCACTGCCTCCTAAGGGTCTTATCTTTTCTAATCCGTATCACGGACT
GGAGACTGGCTCCCACACACATCTCCGTGACCACGTGGCCACTGCCTCCT
AAGGGTCTTATCTTTTCTAATCCATATCACGGACTGGAGACTGGCTCCCA
CACACATCTCCGTGACCGCGTGGCCACTGCCTCCTAAGGGTCTTATCTTT
TCTAATCCGTATCACGGACTGGAGACTGGCTCCCACACACATCTCCGTGA
CCGCGTGGCCACTGCCTCCTAAGGGTCTTATCTTTTCTAATCCGTATCAC
GGACTGGAGACTGGCTCCCACACACATCTCCGTGACCACGTGGCCACTGC
CTCCTAAGGGTCTTATCTTTTCTAATCCACACCACTGACTGGAGATCGGC
TCCCACACACATCTCTGTGACCGCGTGGCCACTGCCTCCTAAGGGTCTTA
TCTTTTCTAATCCACACCACTGACTGGAGATCGGCTCCCACACACATCTC
CGTGACCGCGTGGCCACTGCCTCCTAAGGGTCTTATCTTTTCTAATCCGT
ATCACGGACTGGAGACTGGCTCCCACACACATCTCCGTGACTGCGTGGCC
ACTGCCTCCTAAGGGTCTTATCTTTTCTAATCCGTATCACGGACTGGAGA
CTGGCTCCCACACACATCTCCGTGACCGCGTGGCCACTGCCTCCTAAGGG
TCTTATCTTTTCTAATCCGTATCACGGACTGGAGACTGGCTCCCACACAC
ATCTCCGTGACCGCGTGGCCACTGCCTCCTAAGGGTCTTATCTTTTCTAA
TCCACACCACTGACTGGAGATCGGCTCCCACACACATCTCTGTGACCGCG
TGGCCACTGCCTCCTAAGGGTCTTATCTTTTCTAATCCACACCACTGACT
GGAGATCGGCTCCCACACACATCTCCGTGACCGCGTGGCCACTGCCTCCT
AAGGGTCTTATCTTTTCTAATCCGTATCACGGACTGGAGACTGGCTCCCA
CACACATCTCCGTGACCGCGTGGCCACTGCCTCCTAAGGGTCTTATCTTT
TCTAATCCGTATCACGGACTGGAGAC
 1 a0001c0002t0076g0050
a0001c0002t0076g0050
 1 NA18973.hp1
NA18973.hp1
 intron_variant MODIFIER c.608+6846_608+6847i
others(1277): Show 
c.608+6846_608+6847insGTCTCCAGTCCGTGATACGGATTAGAAA
AGATAAGACCCTTAGGAGGCAGTGGCCACGCGGTCACGGAGATGTGTGTG
GGAGCCAGTCTCCAGTCCGTGATACGGATTAGAAAAGATAAGACCCTTAG
GAGGCAGTGGCCACGCGGTCACGGAGATGTGTGTGGGAGCCGATCTCCAG
TCAGTGGTGTGGATTAGAAAAGATAAGACCCTTAGGAGGCAGTGGCCACG
CGGTCACAGAGATGTGTGTGGGAGCCGATCTCCAGTCAGTGGTGTGGATT
AGAAAAGATAAGACCCTTAGGAGGCAGTGGCCACGCGGTCACGGAGATGT
GTGTGGGAGCCAGTCTCCAGTCCGTGATACGGATTAGAAAAGATAAGACC
CTTAGGAGGCAGTGGCCACGCGGTCACGGAGATGTGTGTGGGAGCCAGTC
TCCAGTCCGTGATACGGATTAGAAAAGATAAGACCCTTAGGAGGCAGTGG
CCACGCAGTCACGGAGATGTGTGTGGGAGCCAGTCTCCAGTCCGTGATAC
GGATTAGAAAAGATAAGACCCTTAGGAGGCAGTGGCCACGCGGTCACGGA
GATGTGTGTGGGAGCCGATCTCCAGTCAGTGGTGTGGATTAGAAAAGATA
AGACCCTTAGGAGGCAGTGGCCACGCGGTCACAGAGATGTGTGTGGGAGC
CGATCTCCAGTCAGTGGTGTGGATTAGAAAAGATAAGACCCTTAGGAGGC
AGTGGCCACGTGGTCACGGAGATGTGTGTGGGAGCCAGTCTCCAGTCCGT
GATACGGATTAGAAAAGATAAGACCCTTAGGAGGCAGTGGCCACGCGGTC
ACGGAGATGTGTGTGGGAGCCAGTCTCCAGTCCGTGATACGGATTAGAAA
AGATAAGACCCTTAGGAGGCAGTGGCCACGCGGTCACGGAGATGTGTGTG
GGAGCCAGTCTCCAGTCCGTGATATGGATTAGAAAAGATAAGACCCTTAG
GAGGCAGTGGCCACGTGGTCACGGAGATGTGTGTGGGAGCCAGTCTCCAG
TCCGTGATACGGATTAGAAAAGATAAGACCCTTAGGAGGCAGTGGCCACA
CGGTCACGGAGATGTGTGTGGGAGCCAGTCTCCAGTCCGTGGTATGAATT
AGAAAAGATAAGACCCTTAGGAGGCAGTGGCCACGCGGTCACGGAGATGT
GTGTGGGAGCCAATCTCCAGTCAGTGGTGTGGATTAGAAAAGATAAGACC
CTTAGGAGGCAGTGGCCACGTGGTCACGGAGATGTGTGTGGGAGCCA
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 646444
chr17:646444 T
T
 TTGGCTCC
others(1268): Show 
TTGGCTCCCACACACATCTCCGTGACCACGTGGCCACTGCCTCCTAAGGG
TCTTATCTTTTCTAATCCACACCACTGACTGGAGATTGGCTCCCACACAC
ATCTCCGTGACCGCGTGGCCACTGCCTCCTAAGGGTCTTATCTTTTCTAA
TTCATACCACGGACTGGAGACTGGCTCCCACACACATCTCCGTGACCGTG
TGGCCACTGCCTCCTAAGGGTCTTATCTTTTCTAATCCGTATCACGGACT
GGAGACTGGCTCCCACACACATCTCCGTGACCACGTGGCCACTGCCTCCT
AAGGGTCTTATCTTTTCTAATCCATATCACGGACTGGAGACTGGCTCCCA
CACACATCTCCGTGACCGCGTGGCCACTGCCTCCTAAGGGTCTTATCTTT
TCTAATCCGTATCACGGACTGGAGACTGGCTCCCACACACATCTCCGTGA
CCGCGTGGCCACTGCCTCCTAAGGGTCTTATCTTTTCTAATCCGTATCAC
GGACTGGAGACTGGCTCCCACACACATCTCCGTGACCGCGTGGCCACTGC
CTCCTAAGGGTCTTATCTTTTCTAATCCACACCACTGACTGGAGATCGGC
TCCCACACACATCTCTGTGACCGCGTGGCCACTGCCTCCTAAGGGTCTTA
TCTTTTCTAATCCACACCACTGACTGGAGATCGGCTCCCACACACATCTC
CGTGACCGCGTGGCCACTGCCTCCTAAGGGTCTTATCTTTTCTAATCCAT
ATCACGGACTGGAGACTGGCTCCCACACACATCTCCGTGACTGCGTGGCC
ACTGCCTCCTAAGGGTCTTATCTTTTCTAATCCGTATCACGGACTGGAGA
CTGGCTCCCACACACATCTCCGTGACCGCGTGGCCACTGCCTCCTAAGGG
TCTTATCTTTTCTAATCCGTATCACGGACTGGAGACTGGCTCCCACACAC
ATCTCCGTGACCGCGTGGCCACTGCCTCCTAAGGGTCTTATCTTTTCTAA
TCCACACCACTGACTGGAGATCGGCTCCCACACACATCTCTGTGACCGCG
TGGCCACTGCCTCCTAAGGGTCTTATCTTTTCTAATCCACACCACTGACT
GGAGATCGGCTCCCACACACATCTCCGTGACCGCGTGGCCACTGCCTCCT
AAGGGTCTTATCTTTTCTAATCCGTATCACGGACTGGAGACTGGCTCCCA
CACACATCTCCGTGACCGCGTGGCCACTGCCTCCTAAGGGTCTTATCTTT
TCTAATCCGTATCACGGACTGGAGAC
 5 a0001c0002t0001g0056
a0001c0002t0001g0082
a0001c0002t0003g0053
others(2): Show 
a0001c0002t0001g0056
a0001c0002t0001g0082
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0014g0055
 5 HG01071.hp2
HG01074.hp1
HG01167.hp2
others(2): Show 
HG01071.hp2
HG01074.hp1
HG01167.hp2
HG02886.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.608+6846_608+6847i
others(1277): Show 
c.608+6846_608+6847insGTCTCCAGTCCGTGATACGGATTAGAAA
AGATAAGACCCTTAGGAGGCAGTGGCCACGCGGTCACGGAGATGTGTGTG
GGAGCCAGTCTCCAGTCCGTGATACGGATTAGAAAAGATAAGACCCTTAG
GAGGCAGTGGCCACGCGGTCACGGAGATGTGTGTGGGAGCCGATCTCCAG
TCAGTGGTGTGGATTAGAAAAGATAAGACCCTTAGGAGGCAGTGGCCACG
CGGTCACAGAGATGTGTGTGGGAGCCGATCTCCAGTCAGTGGTGTGGATT
AGAAAAGATAAGACCCTTAGGAGGCAGTGGCCACGCGGTCACGGAGATGT
GTGTGGGAGCCAGTCTCCAGTCCGTGATACGGATTAGAAAAGATAAGACC
CTTAGGAGGCAGTGGCCACGCGGTCACGGAGATGTGTGTGGGAGCCAGTC
TCCAGTCCGTGATACGGATTAGAAAAGATAAGACCCTTAGGAGGCAGTGG
CCACGCAGTCACGGAGATGTGTGTGGGAGCCAGTCTCCAGTCCGTGATAT
GGATTAGAAAAGATAAGACCCTTAGGAGGCAGTGGCCACGCGGTCACGGA
GATGTGTGTGGGAGCCGATCTCCAGTCAGTGGTGTGGATTAGAAAAGATA
AGACCCTTAGGAGGCAGTGGCCACGCGGTCACAGAGATGTGTGTGGGAGC
CGATCTCCAGTCAGTGGTGTGGATTAGAAAAGATAAGACCCTTAGGAGGC
AGTGGCCACGCGGTCACGGAGATGTGTGTGGGAGCCAGTCTCCAGTCCGT
GATACGGATTAGAAAAGATAAGACCCTTAGGAGGCAGTGGCCACGCGGTC
ACGGAGATGTGTGTGGGAGCCAGTCTCCAGTCCGTGATACGGATTAGAAA
AGATAAGACCCTTAGGAGGCAGTGGCCACGCGGTCACGGAGATGTGTGTG
GGAGCCAGTCTCCAGTCCGTGATATGGATTAGAAAAGATAAGACCCTTAG
GAGGCAGTGGCCACGTGGTCACGGAGATGTGTGTGGGAGCCAGTCTCCAG
TCCGTGATACGGATTAGAAAAGATAAGACCCTTAGGAGGCAGTGGCCACA
CGGTCACGGAGATGTGTGTGGGAGCCAGTCTCCAGTCCGTGGTATGAATT
AGAAAAGATAAGACCCTTAGGAGGCAGTGGCCACGCGGTCACGGAGATGT
GTGTGGGAGCCAATCTCCAGTCAGTGGTGTGGATTAGAAAAGATAAGACC
CTTAGGAGGCAGTGGCCACGTGGTCACGGAGATGTGTGTGGGAGCCA
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 646444
chr17:646444 T
T
 TTGGCTCC
others(1608): Show 
TTGGCTCCCACACACATCTCCGTGACCACGTGGCCACTGCCTCCTAAGGG
TCTTATCTTTTCTAATCCACACCACTGACTGGAGATTGGCTCCCACACAC
ATCTCCGTGACCGCGTGGCCACTGCCTCCTAAGGGTCTTATCTTTTCTAA
TTCATACCACGGACTGGAGACTGGCTCCCACACACATCTCCGTGACCGTG
TGGCCACTGCCTCCTAAGGGTCTTATCTTTTCTAATCCGTATCACGGACT
GGAGACTGGCTCCCACACACATCTCCGTGACCACGTGGCCACTGCCTCCT
AAGGGTCTTATCTTTTCTAATCCATATCACGGACTGGAGACTGGCTCCCA
CACACATCTCCGTGACCGCGTGGCCACTGCCTCCTAAGGGTCTTATCTTT
TCTAATCCGTATCACGGACTGGAGACTGGCTCCCACACACATCTCCGTGA
CCGCGTGGCCACTGCCTCCTAAGGGTCTTATCTTTTCTAATCCGTATCAC
GGACTGGAGACTGGCTCCCACACACATCTCCGTGACCGCGTGGCCACTGC
CTCCTAAGGGTCTTATCTTTTCTAATCCACACCACTGACTGGAGATCGGC
TCCCACACACATCTCTGTGACCGCGTGGCCACTGCCTCCTAAGGGTCTTA
TCTTTTCTAATCCACACCACTGACTGGAGATCGGCTCCCACACACATCTC
CGTGACCGCGTGGCCACTGCCTCCTAAGGGTCTTATCTTTTCTAATCCAT
ATCACGGACTGGAGACTGGCTCCCACACACATCTCCGTGACTGCGTGGCC
ACTGCCTCCTAAGGGTCTTATCTTTTCTAATCCGTATCACGGACTGGAGA
CTGGCTCCCACACACATCTCCGTGACCGCGTGGCCACTGCCTCCTAAGGG
TCTTATCTTTTCTAATCCGTATCACGGACTGGAGACTGGCTCCCACACAC
ATCTCCGTGACCGCGTGGCCACTGCCTCCTAAGGGTCTTATCTTTTCTAA
TCCACACCACTGACTGGAGATCGGCTCCCACACACATCTCTGTGACCGCG
TGGCCACTGCCTCCTAAGGGTCTTATCTTTTCTAATCCACACCACTGACT
GGAGATCGGCTCCCACACACATCTCCGTGACCGCGTGGCCACTGCCTCCT
AAGGGTCTTATCTTTTCTAATCCGTATCACGGACTGGAGACTGGCTCCCA
CACACATCTCCGTGACCGCGTGGCCACTGCCTCCTAAGGGTCTTATCTTT
TCTAATCCGTATCACGGACTGGAGACTGGCTCCCACACACATCTCCGTGA
CCGCGTGGCCACTGCCTCCTAAGGGTCTTATCTTTTCTAATCCACACCAC
TGACTGGAGATCGGCTCCCACACACATCTCTGTGACCGCGTGGCCACTGC
CTCCTAAGGGTCTTATCTTTTCTAATCCACACCACTGACTGGAGATCGGC
TCCCACACACATCTCCGTGACCGCGTGGCCACTGCCTCCTAAGGGTCTTA
TCTTTTCTAATCCGTATCACGGACTGGAGACTGGCTCCCACACACATCTC
CGTGACCGCGTGGCCACTGCCTCCTAAGGGTCTTATCTTTTCTAATCCGT
ATCACGGACTGGAGAC
 1 a0001c0002t0014g0074
a0001c0002t0014g0074
 1 HG01255.hp1
HG01255.hp1
 intron_variant MODIFIER c.608+6846_608+6847i
others(1617): Show 
c.608+6846_608+6847insGTCTCCAGTCCGTGATACGGATTAGAAA
AGATAAGACCCTTAGGAGGCAGTGGCCACGCGGTCACGGAGATGTGTGTG
GGAGCCAGTCTCCAGTCCGTGATACGGATTAGAAAAGATAAGACCCTTAG
GAGGCAGTGGCCACGCGGTCACGGAGATGTGTGTGGGAGCCGATCTCCAG
TCAGTGGTGTGGATTAGAAAAGATAAGACCCTTAGGAGGCAGTGGCCACG
CGGTCACAGAGATGTGTGTGGGAGCCGATCTCCAGTCAGTGGTGTGGATT
AGAAAAGATAAGACCCTTAGGAGGCAGTGGCCACGCGGTCACGGAGATGT
GTGTGGGAGCCAGTCTCCAGTCCGTGATACGGATTAGAAAAGATAAGACC
CTTAGGAGGCAGTGGCCACGCGGTCACGGAGATGTGTGTGGGAGCCAGTC
TCCAGTCCGTGATACGGATTAGAAAAGATAAGACCCTTAGGAGGCAGTGG
CCACGCGGTCACGGAGATGTGTGTGGGAGCCGATCTCCAGTCAGTGGTGT
GGATTAGAAAAGATAAGACCCTTAGGAGGCAGTGGCCACGCGGTCACAGA
GATGTGTGTGGGAGCCGATCTCCAGTCAGTGGTGTGGATTAGAAAAGATA
AGACCCTTAGGAGGCAGTGGCCACGCGGTCACGGAGATGTGTGTGGGAGC
CAGTCTCCAGTCCGTGATACGGATTAGAAAAGATAAGACCCTTAGGAGGC
AGTGGCCACGCGGTCACGGAGATGTGTGTGGGAGCCAGTCTCCAGTCCGT
GATACGGATTAGAAAAGATAAGACCCTTAGGAGGCAGTGGCCACGCAGTC
ACGGAGATGTGTGTGGGAGCCAGTCTCCAGTCCGTGATATGGATTAGAAA
AGATAAGACCCTTAGGAGGCAGTGGCCACGCGGTCACGGAGATGTGTGTG
GGAGCCGATCTCCAGTCAGTGGTGTGGATTAGAAAAGATAAGACCCTTAG
GAGGCAGTGGCCACGCGGTCACAGAGATGTGTGTGGGAGCCGATCTCCAG
TCAGTGGTGTGGATTAGAAAAGATAAGACCCTTAGGAGGCAGTGGCCACG
CGGTCACGGAGATGTGTGTGGGAGCCAGTCTCCAGTCCGTGATACGGATT
AGAAAAGATAAGACCCTTAGGAGGCAGTGGCCACGCGGTCACGGAGATGT
GTGTGGGAGCCAGTCTCCAGTCCGTGATACGGATTAGAAAAGATAAGACC
CTTAGGAGGCAGTGGCCACGCGGTCACGGAGATGTGTGTGGGAGCCAGTC
TCCAGTCCGTGATATGGATTAGAAAAGATAAGACCCTTAGGAGGCAGTGG
CCACGTGGTCACGGAGATGTGTGTGGGAGCCAGTCTCCAGTCCGTGATAC
GGATTAGAAAAGATAAGACCCTTAGGAGGCAGTGGCCACACGGTCACGGA
GATGTGTGTGGGAGCCAGTCTCCAGTCCGTGGTATGAATTAGAAAAGATA
AGACCCTTAGGAGGCAGTGGCCACGCGGTCACGGAGATGTGTGTGGGAGC
CAATCTCCAGTCAGTGGTGTGGATTAGAAAAGATAAGACCCTTAGGAGGC
AGTGGCCACGTGGTCACGGAGATGTGTGTGGGAGCCA
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 646444
chr17:646444 T
T
 TTGGCTCC
others(1268): Show 
TTGGCTCCCACACACATCTCCGTGACCACGTGGCCACTGCCTCCTAAGGG
TCTTATCTTTTCTAATCCACACCACTGACTGGAGATTGGCTCCCACACAC
ATCTCCGTGACCGCGTGGCCACTGCCTCCTAAGGGTCTTATCTTTTCTAA
TTCATACCACGGACTGGAGACTGGCTCCCACACACATCTCCGTGACCGTG
TGGCCACTGCCTCCTAAGGGTCTTATCTTTTCTAATCCGTATCACGGACT
GGAGACTGGCTCCCACACACATCTCCGTGACCACGTGGCCACTGCCTCCT
AAGGGTCTTATCTTTTCTAATCCATATCACGGACTGGAGACTGGCTCCCA
CACACATCTCCGTGACCGCGTGGCCACTGCCTCCTAAGGGTCTTATCTTT
TCTAATCCGTATCACGGACTGGAGACTGGCTCCCACACACATCTCCGTGA
CCGCGTGGCCACTGCCTCCTAAGGGTCTTATCTTTTCTAATCCGTATCAC
GGACTGGAGACTGGCTCCCACACACATCTCCGTGACCGCGTGGCCACTGC
CTCCTAAGGGTCTTATCTTTTCTAATCCACACCACTGACTGGAGATCGGC
TCCCACACACATCTCTGTGACCGCGTGGCCACTGCCTCCTAAGGGTCTTA
TCTTTTCTAATCCACACCACTGACTGGAGATCGGCTCCCACACACATCTC
CGTGACCGCGTGGCCACTGCCTCCTAAGGGTCTTATCTTTTCTAATCCGT
ATCACGGACTGGAGACTGGCTCCCACACACATCTCCGTGACTGCGTGGCC
ACTGCCTCCTAAGGGTCTTATCTTTTCTAATCCGTATCACGGACTGGAGA
CTGGCTCCCACACACATCTCCGTGACCGCGTGGCCACTGCCTCCTAAGGG
TCTTATCTTTTCTAATCCGTATCACGGACTGGAGACTGGCTCCCACACAC
ATCTCCGTGACCGCGTGGCCACTGCCTCCTAAGGGTCTTATCTTTTCTAA
TCCACACCACTGACTGGAGATCGGCTCCCACACACATCTCTGTGACCGCG
TGGCCACTGCCTCCTAAGGGTCTTATCTTTTCTAATCCACACCACTGACT
GGAGATCGGCTCCCACACACATCTCCGTGACCGCGTGGCCACTGCCTCCT
AAGGGTCTTATCTTTTCTAATCCGTATCACGGACTGGAGACTGGCTCCCA
CACACATCTCCGTGACCGCGTGGCCACTGCCTCCTAAGGGTCTTATCTTT
TCTAATCCGTATCACGGACTGGAGAC
 28 a0001c0002t0001g0045
a0001c0002t0001g0090
a0001c0002t0003g0072
others(25): Show 
a0001c0002t0001g0045
a0001c0002t0001g0090
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0083
a0001c0002t0014g0077
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0058g0052
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0002c0003t0073g0068
 28 HG00621.hp2
HG01070.hp1
HG01081.hp1
others(25): Show 
HG00621.hp2
HG01070.hp1
HG01081.hp1
HG01106.hp1
HG01168.hp1
HG01256.hp1
HG01258.hp1
HG01361.hp1
HG01496.hp1
HG02135.hp1
HG02738.hp1
NA18940.hp1
NA18944.hp1
NA18946.hp2
NA18959.hp2
NA18960.hp1
NA18962.hp2
NA18967.hp1
NA18977.hp2
NA18979.hp1
NA19007.hp1
NA19009.hp1
NA19065.hp1
NA19070.hp1
NA19079.hp1
NA19084.hp1
NA19090.hp1
NA20805.hp2
 intron_variant MODIFIER c.608+6846_608+6847i
others(1277): Show 
c.608+6846_608+6847insGTCTCCAGTCCGTGATACGGATTAGAAA
AGATAAGACCCTTAGGAGGCAGTGGCCACGCGGTCACGGAGATGTGTGTG
GGAGCCAGTCTCCAGTCCGTGATACGGATTAGAAAAGATAAGACCCTTAG
GAGGCAGTGGCCACGCGGTCACGGAGATGTGTGTGGGAGCCGATCTCCAG
TCAGTGGTGTGGATTAGAAAAGATAAGACCCTTAGGAGGCAGTGGCCACG
CGGTCACAGAGATGTGTGTGGGAGCCGATCTCCAGTCAGTGGTGTGGATT
AGAAAAGATAAGACCCTTAGGAGGCAGTGGCCACGCGGTCACGGAGATGT
GTGTGGGAGCCAGTCTCCAGTCCGTGATACGGATTAGAAAAGATAAGACC
CTTAGGAGGCAGTGGCCACGCGGTCACGGAGATGTGTGTGGGAGCCAGTC
TCCAGTCCGTGATACGGATTAGAAAAGATAAGACCCTTAGGAGGCAGTGG
CCACGCAGTCACGGAGATGTGTGTGGGAGCCAGTCTCCAGTCCGTGATAC
GGATTAGAAAAGATAAGACCCTTAGGAGGCAGTGGCCACGCGGTCACGGA
GATGTGTGTGGGAGCCGATCTCCAGTCAGTGGTGTGGATTAGAAAAGATA
AGACCCTTAGGAGGCAGTGGCCACGCGGTCACAGAGATGTGTGTGGGAGC
CGATCTCCAGTCAGTGGTGTGGATTAGAAAAGATAAGACCCTTAGGAGGC
AGTGGCCACGCGGTCACGGAGATGTGTGTGGGAGCCAGTCTCCAGTCCGT
GATACGGATTAGAAAAGATAAGACCCTTAGGAGGCAGTGGCCACGCGGTC
ACGGAGATGTGTGTGGGAGCCAGTCTCCAGTCCGTGATACGGATTAGAAA
AGATAAGACCCTTAGGAGGCAGTGGCCACGCGGTCACGGAGATGTGTGTG
GGAGCCAGTCTCCAGTCCGTGATATGGATTAGAAAAGATAAGACCCTTAG
GAGGCAGTGGCCACGTGGTCACGGAGATGTGTGTGGGAGCCAGTCTCCAG
TCCGTGATACGGATTAGAAAAGATAAGACCCTTAGGAGGCAGTGGCCACA
CGGTCACGGAGATGTGTGTGGGAGCCAGTCTCCAGTCCGTGGTATGAATT
AGAAAAGATAAGACCCTTAGGAGGCAGTGGCCACGCGGTCACGGAGATGT
GTGTGGGAGCCAATCTCCAGTCAGTGGTGTGGATTAGAAAAGATAAGACC
CTTAGGAGGCAGTGGCCACGTGGTCACGGAGATGTGTGTGGGAGCCA
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 646444
chr17:646444 T
T
 TTGGCTCC
others(1268): Show 
TTGGCTCCCACACACATCTCCGTGACCACGTGGCCACTGCCTCCTAAGGG
TCTTATCTTTTCTAATCCACACCACTGACTGGAGATTGGCTCCCACACAC
ATCTCCGTGACCGCGTGGCCACTGCCTCCTAAGGGTCTTATCTTTTCTAA
TTCATACCACGGACTGGAGACTGGCTCCCACACACATCTCCGTGACCGTG
TGGCCACTGCCTCCTAAGGGTCTTATCTTTTCTAATCCGTATCACGGACT
GGAGACTGGCTCCCACACACATCTCCGTGACCACGTGGCCACTGCCTCCT
AAGGGTCTTATCTTTTCTAATCCATATCACGGACTGGAGACTGGCTCCCA
CACACATCTCCGTGACCGCGTGGCCACTGCCTCCTAAGGGTCTTATCTTT
TCTAATCCGTATCACGGACTGGAGACTGGCTCCCACACACATCTCCGTGA
CCGCGTGGCCACTGCCTCCTAAGGGTCTTATCTTTTCTAATCCGTATCAC
GGACTGGAGACTGGCTCCCACACACATCTCCGTGACCGCGTGGCCACTGC
CTCCTAAGGGTCTTATCTTTTCTAATCCACACCACTGACTGGAGATCGGC
TCCCACACACATCTCTGTGACCGCGTGGCCACTGCCTCCTAAGGGTCTTA
TCTTTTCTAATCCACACCACTGACTGGAGATCGGCTCCCACACACATCTC
CGTGACCGCGTGGCCACTGCCTCCTAAGGGTCTTATCTTTTCTAATCCGT
ATCACGGACTGGAGACTGGCTCCCACACACATCTCCGTGACTGCGTGGCC
ACTGCCTCCTAAGGGTCTTATCTTTTCTGATCCGTATCACGGACTGGAGA
CTGGCTCCCACACACATCTCCGTGACCGCGTGGCCACTGCCTCCTAAGGG
TCTTATCTTTTCTAATCCGTATCACGGACTGGAGACTGGCTCCCACACAC
ATCTCCGTGACCGCGTGGCCACTGCCTCCTAAGGGTCTTATCTTTTCTAA
TCCACACCACTGACTGGAGATCGGCTCCCACACACATCTCTGTGACCGCG
TGGCCACTGCCTCCTAAGGGTCTTATCTTTTCTAATCCACACCACTGACT
GGAGATCGGCTCCCACACACATCTCCGTGACCGCGTGGCCACTGCCTCCT
AAGGGTCTTATCTTTTCTAATCCGTATCACGGACTGGAGACTGGCTCCCA
CACACATCTCCGTGACCGCGTGGCCACTGCCTCCTAAGGGTCTTATCTTT
TCTAATCCGTATCACGGACTGGAGAC
 1 a0001c0002t0025g0075
a0001c0002t0025g0075
 1 HG01978.hp1
HG01978.hp1
 intron_variant MODIFIER c.608+6846_608+6847i
others(1277): Show 
c.608+6846_608+6847insGTCTCCAGTCCGTGATACGGATTAGAAA
AGATAAGACCCTTAGGAGGCAGTGGCCACGCGGTCACGGAGATGTGTGTG
GGAGCCAGTCTCCAGTCCGTGATACGGATTAGAAAAGATAAGACCCTTAG
GAGGCAGTGGCCACGCGGTCACGGAGATGTGTGTGGGAGCCGATCTCCAG
TCAGTGGTGTGGATTAGAAAAGATAAGACCCTTAGGAGGCAGTGGCCACG
CGGTCACAGAGATGTGTGTGGGAGCCGATCTCCAGTCAGTGGTGTGGATT
AGAAAAGATAAGACCCTTAGGAGGCAGTGGCCACGCGGTCACGGAGATGT
GTGTGGGAGCCAGTCTCCAGTCCGTGATACGGATTAGAAAAGATAAGACC
CTTAGGAGGCAGTGGCCACGCGGTCACGGAGATGTGTGTGGGAGCCAGTC
TCCAGTCCGTGATACGGATCAGAAAAGATAAGACCCTTAGGAGGCAGTGG
CCACGCAGTCACGGAGATGTGTGTGGGAGCCAGTCTCCAGTCCGTGATAC
GGATTAGAAAAGATAAGACCCTTAGGAGGCAGTGGCCACGCGGTCACGGA
GATGTGTGTGGGAGCCGATCTCCAGTCAGTGGTGTGGATTAGAAAAGATA
AGACCCTTAGGAGGCAGTGGCCACGCGGTCACAGAGATGTGTGTGGGAGC
CGATCTCCAGTCAGTGGTGTGGATTAGAAAAGATAAGACCCTTAGGAGGC
AGTGGCCACGCGGTCACGGAGATGTGTGTGGGAGCCAGTCTCCAGTCCGT
GATACGGATTAGAAAAGATAAGACCCTTAGGAGGCAGTGGCCACGCGGTC
ACGGAGATGTGTGTGGGAGCCAGTCTCCAGTCCGTGATACGGATTAGAAA
AGATAAGACCCTTAGGAGGCAGTGGCCACGCGGTCACGGAGATGTGTGTG
GGAGCCAGTCTCCAGTCCGTGATATGGATTAGAAAAGATAAGACCCTTAG
GAGGCAGTGGCCACGTGGTCACGGAGATGTGTGTGGGAGCCAGTCTCCAG
TCCGTGATACGGATTAGAAAAGATAAGACCCTTAGGAGGCAGTGGCCACA
CGGTCACGGAGATGTGTGTGGGAGCCAGTCTCCAGTCCGTGGTATGAATT
AGAAAAGATAAGACCCTTAGGAGGCAGTGGCCACGCGGTCACGGAGATGT
GTGTGGGAGCCAATCTCCAGTCAGTGGTGTGGATTAGAAAAGATAAGACC
CTTAGGAGGCAGTGGCCACGTGGTCACGGAGATGTGTGTGGGAGCCA
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 646444
chr17:646444 T
T
 TTGGCTCC
others(928): Show 
TTGGCTCCCACACACATCTCCGTGACCACGTGGCCACTGCCTCCTAAGGG
TCTTATCTTTTCTAATCCACACCACTGACTGGAGATTGGCTCCCACACAC
ATCTCCGTGACCGCGTGGCCACTGCCTCCTAAGGGTCTTATCTTTTCTAA
TTCATACCACGGACTGGAGACTGGCTCCCACACACATCTCCGTGACCGTG
TGGCCACTGCCTCCTAAGGGTCTTATCTTTTCTAATCCGTATCACGGACT
GGAGACTGGCTCCCACACACATCTCCGTGACCACGTGGCCACTGCCTCCT
AAGGGTCTTATCTTTTCTAATCCATATCACGGACTGGAGACTGGCTCCCA
CACACATCTCCGTGACCGCGTGGCCACTGCCTCCTAAGGGTCTTATCTTT
TCTAATCCGTATCACGGACTGGAGACTGGCTCCCACACACATCTCCGTGA
CCGCGTGGCCACTGCCTCCTAAGGGTCTTATCTTTTCTAATCCGTATCAC
GGACTGGAGACTGGCTCCCACACACATCTCCGTGACCGCGTGGCCACTGC
CTCCTAAGGGTCTTATCTTTTCTAATCCGTATCACGGACTGGAGACTGGC
TCCCACACACATCTCCGTGACCGCGTGGCCACTGCCTCCTAAGGGTCTTA
TCTTTTCTAATCCACACCACTGACTGGAGATCGGCTCCCACACACATCTC
TGTGACCGCGTGGCCACTGCCTCCTAAGGGTCTTATCTTTTCTAATCCAC
ACCACTGACTGGAGATCGGCTCCCACACACATCTCCGTGACCGCGTGGCC
ACTGCCTCCTAAGGGTCTTATCTTTTCTAATCCGTATCACGGACTGGAGA
CTGGCTCCCACACACATCTCCGTGACCGCGTGGCCACTGCCTCCTAAGGG
TCTTATCTTTTCTAATCCGTATCACGGACTGGAGAC
 1 a0001c0002t0055g0084
a0001c0002t0055g0084
 1 NA18906.hp2
NA18906.hp2
 intron_variant MODIFIER c.608+6846_608+6847i
others(937): Show 
c.608+6846_608+6847insGTCTCCAGTCCGTGATACGGATTAGAAA
AGATAAGACCCTTAGGAGGCAGTGGCCACGCGGTCACGGAGATGTGTGTG
GGAGCCAGTCTCCAGTCCGTGATACGGATTAGAAAAGATAAGACCCTTAG
GAGGCAGTGGCCACGCGGTCACGGAGATGTGTGTGGGAGCCGATCTCCAG
TCAGTGGTGTGGATTAGAAAAGATAAGACCCTTAGGAGGCAGTGGCCACG
CGGTCACAGAGATGTGTGTGGGAGCCGATCTCCAGTCAGTGGTGTGGATT
AGAAAAGATAAGACCCTTAGGAGGCAGTGGCCACGCGGTCACGGAGATGT
GTGTGGGAGCCAGTCTCCAGTCCGTGATACGGATTAGAAAAGATAAGACC
CTTAGGAGGCAGTGGCCACGCGGTCACGGAGATGTGTGTGGGAGCCAGTC
TCCAGTCCGTGATACGGATTAGAAAAGATAAGACCCTTAGGAGGCAGTGG
CCACGCGGTCACGGAGATGTGTGTGGGAGCCAGTCTCCAGTCCGTGATAC
GGATTAGAAAAGATAAGACCCTTAGGAGGCAGTGGCCACGCGGTCACGGA
GATGTGTGTGGGAGCCAGTCTCCAGTCCGTGATATGGATTAGAAAAGATA
AGACCCTTAGGAGGCAGTGGCCACGTGGTCACGGAGATGTGTGTGGGAGC
CAGTCTCCAGTCCGTGATACGGATTAGAAAAGATAAGACCCTTAGGAGGC
AGTGGCCACACGGTCACGGAGATGTGTGTGGGAGCCAGTCTCCAGTCCGT
GGTATGAATTAGAAAAGATAAGACCCTTAGGAGGCAGTGGCCACGCGGTC
ACGGAGATGTGTGTGGGAGCCAATCTCCAGTCAGTGGTGTGGATTAGAAA
AGATAAGACCCTTAGGAGGCAGTGGCCACGTGGTCACGGAGATGTGTGTG
GGAGCCA
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 646444
chr17:646444 T
T
 TTGGCTCC
others(1353): Show 
TTGGCTCCCACACACATCTCCGTGACCGCGTGGCCACTGCCTCCTAAGGG
TCTTATCTTTTCTAATCCACACCACTGACTGGAGATTGGCTCCCACACAC
ATCTCCGTGACCGCGTGGCCACTGCCTCCTAAGGGTCTTATCTTTTCTAA
TTCATACCACGGACTGGAGACTGGCTCCCACACACATCTCCGTGACCGTG
TGGCCACTGCCTCCTAAGGGTCTTATCTTTTCTAATCCGTATCACGGACT
GGAGACTGGCTCCCACACACATCTCCGTGACCACGTGGCCACTGCCTCCT
AAGGGTCTTATCTTTTCTAATCCATATCACGGACTGGAGACTGGCTCCCA
CACACATCTCCGTGACCGCGTGGCCACTGCCTCCTAAGGGTCTTATCTTT
TCTAATCCGTATCACGGACTGGAGACTGGCTCCCACACACATCTCCGTGA
CCGCGTGGCCACTGCCTCCTAAGGGTCTTATCTTTTCTAATCCGTATCAC
GGACTGGAGACTGGCTCCCACACACATCTCCGTGACCGCGTGGCCACTGC
CTCCTAAGGGTCTTATCTTTTCTAATCCACACCACTGACTGGAGATCGGC
TCCCACACACATCTCTGTGACCGCGTGGCCACTGCCTCCTAAGGGTCTTA
TCTTTTCTAATCCACACCACTGACTGGAGATCGGCTCCCACACACAGCTC
CGTGACCGCGTGGCCACTGCCTCCTAAGGGTCTTATCTTTTCTAATCCGT
ATCACGGACTGGAGACTGGCTCCCACACACATCTCCGTGACTGCGTGGCC
ACTGCCTCCTAAGGGTCTTATCTTTTCTAATCCGTATCACGGACTGGAGA
CTGGCTCCCACACACATCTCCGTGACCGCGTGGCCACTGCCTCCTAAGGG
TCTTATCTTTTCTAATCCGTATCACGGACTGGAGACTGGCTCCCACACAC
ATCTCCGTGACCGCGTGGCCACTGCCTCCTAAGGGTCTTATCTTTTCTAA
TCCGTATCACGGACTGGAGACTGGCTCCCACACACATCTCCGTGACCGCG
TGGCCACTGCCTCCTAAGGGTCTTATCTTTTCTAATCCACACCACTGACT
GGAGATCGGCTCCCACACACATCTCTGTGACCGCGTGGCCACTGCCTCCT
AAGGGTCTTATCTTTTCTAATCCACACCACTGACTGGAGATCGGCTCCCA
CACACATCTCCGTGACCGCGTGGCCACTGCCTCCTAAGGGTCTTATCTTT
TCTAATCCGTATCACGGACTGGAGACTGGCTCCCACACACATCTCCGTGA
CCGCGTGGCCACTGCCTCCTAAGGGTCTTATCTTTTCTAATCCGTATCAC
GGACTGGAGAC
 5 a0001c0001t0017g0158
a0001c0001t0034g0162
a0001c0001t0122g0160
others(2): Show 
a0001c0001t0017g0158
a0001c0001t0034g0162
a0001c0001t0122g0160
a0001c0001t0138g0161
a0001c0001t0141g0165
 5 HG00741.hp1
HG01106.hp2
HG01109.hp1
others(2): Show 
HG00741.hp1
HG01106.hp2
HG01109.hp1
HG01257.hp1
HG01258.hp2
 intron_variant MODIFIER c.608+6846_608+6847i
others(1362): Show 
c.608+6846_608+6847insGTCTCCAGTCCGTGATACGGATTAGAAA
AGATAAGACCCTTAGGAGGCAGTGGCCACGCGGTCACGGAGATGTGTGTG
GGAGCCAGTCTCCAGTCCGTGATACGGATTAGAAAAGATAAGACCCTTAG
GAGGCAGTGGCCACGCGGTCACGGAGATGTGTGTGGGAGCCGATCTCCAG
TCAGTGGTGTGGATTAGAAAAGATAAGACCCTTAGGAGGCAGTGGCCACG
CGGTCACAGAGATGTGTGTGGGAGCCGATCTCCAGTCAGTGGTGTGGATT
AGAAAAGATAAGACCCTTAGGAGGCAGTGGCCACGCGGTCACGGAGATGT
GTGTGGGAGCCAGTCTCCAGTCCGTGATACGGATTAGAAAAGATAAGACC
CTTAGGAGGCAGTGGCCACGCGGTCACGGAGATGTGTGTGGGAGCCAGTC
TCCAGTCCGTGATACGGATTAGAAAAGATAAGACCCTTAGGAGGCAGTGG
CCACGCGGTCACGGAGATGTGTGTGGGAGCCAGTCTCCAGTCCGTGATAC
GGATTAGAAAAGATAAGACCCTTAGGAGGCAGTGGCCACGCAGTCACGGA
GATGTGTGTGGGAGCCAGTCTCCAGTCCGTGATACGGATTAGAAAAGATA
AGACCCTTAGGAGGCAGTGGCCACGCGGTCACGGAGCTGTGTGTGGGAGC
CGATCTCCAGTCAGTGGTGTGGATTAGAAAAGATAAGACCCTTAGGAGGC
AGTGGCCACGCGGTCACAGAGATGTGTGTGGGAGCCGATCTCCAGTCAGT
GGTGTGGATTAGAAAAGATAAGACCCTTAGGAGGCAGTGGCCACGCGGTC
ACGGAGATGTGTGTGGGAGCCAGTCTCCAGTCCGTGATACGGATTAGAAA
AGATAAGACCCTTAGGAGGCAGTGGCCACGCGGTCACGGAGATGTGTGTG
GGAGCCAGTCTCCAGTCCGTGATACGGATTAGAAAAGATAAGACCCTTAG
GAGGCAGTGGCCACGCGGTCACGGAGATGTGTGTGGGAGCCAGTCTCCAG
TCCGTGATATGGATTAGAAAAGATAAGACCCTTAGGAGGCAGTGGCCACG
TGGTCACGGAGATGTGTGTGGGAGCCAGTCTCCAGTCCGTGATACGGATT
AGAAAAGATAAGACCCTTAGGAGGCAGTGGCCACACGGTCACGGAGATGT
GTGTGGGAGCCAGTCTCCAGTCCGTGGTATGAATTAGAAAAGATAAGACC
CTTAGGAGGCAGTGGCCACGCGGTCACGGAGATGTGTGTGGGAGCCAATC
TCCAGTCAGTGGTGTGGATTAGAAAAGATAAGACCCTTAGGAGGCAGTGG
CCACGCGGTCACGGAGATGTGTGTGGGAGCCA
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 646444
chr17:646444 T
T
 TTGGCTCC
others(1438): Show 
TTGGCTCCCACACACATCTCCGTGACCGCGTGGCCACTGCCTCCTAAGGG
TCTTATCTTTTCTAATCCACACCACTGACTGGAGATTGGCTCCCACACAC
ATCTCCGTGACCGCGTGGCCACTGCCTCCTAAGGGTCTTATCTTTTCTAA
TTCATACCACGGACTGGAGACTGGCTCCCACACACATCTCCGTGACCGTG
TGGCCACTGCCTCCTAAGGGTCTTATCTTTTCTAATCCGTATCACGGACT
GGAGACTGGCTCCCACACACATCTCCGTGACCACGTGGCCACTGCCTCCT
AAGGGTCTTATCTTTTCTAATCCATATCACGGACTGGAGACTGGCTCCCA
CACACATCTCCGTGACCGCGTGGCCACTGCCTCCTAAGGGTCTTATCTTT
TCTAATCCGTATCACGGACTGGAGACTGGCTCCCACACACATCTCCGTGA
CCGCGTGGCCACTGCCTCCTAAGGGTCTTATCTTTTCTAATCCGTATCAC
GGACTGGAGACTGGCTCCCACACACATCTCCGTGACCGCGTGGCCACTGC
CTCCTAAGGGTCTTATCTTTTCTAATCCACACCACTGACTGGAGATCGGC
TCCCACACACATCTCTGTGACCGCGTGGCCACTGCCTCCTAAGGGTCTTA
TCTTTTCTAATCCACACCACTGACTGGAGATCGGCTCCCACACACAGCTC
CGTGACCGCGTGGCCACTGCCTCCTAAGGGTCTTATCTTTTCTAATCCGT
ATCACGGACTGGAGACTGGCTCCCACACACATCTCCGTGACTGCGTGGCC
ACTGCCTCCTAAGGGTCTTATCTTTTCTAATCCGTATCACGGACTGGAGA
CTGGCTCCCACACACATCTCCGTGACCGCGTGGCCACTGCCTCCTAAGGG
TCTTATCTTTTCTAATCCGTATCACGGACTGGAGACTGGCTCCCACACAC
ATCTCCGTGACCGCGTGGCCACTGCCTCCTAAGGGTCTTATCTTTTCTAA
TCCGTATCACGGACTGGAGACTGGCTCCCACACACATCTCCGTGACCGCG
TGGCCACTGCCTCCTAAGGGTCTTATCTTTTCTAATCCACACCACTGACT
GGAGATCGGCTCCCACACACATCTCTGTGACCGCGTGGCCACTGCCTCCT
AAGGGTCTTATCTTTTCTAATCCACACCACTGACTGGAGATCGGCTCCCA
CACACATCTCCGTGACCGCGTGGCCACTGCCTCCTAAGGGTCTTATCTTT
TCTAATCCGTATCACGGACTGGAGACTGGCTCCCACACACATCTCCGTGA
CCGCGTGGCCACTGCCTCCTAAGGGTCTTATCTTTTCTAATCCGTATCAC
GGACTGGAGACTGGCTCCCACACACATCTCCGTGACCGCGTGGCCACTGC
CTCCTAAGGGTCTTATCTTTTCTAATCCGTATCACGGACTGGAGAC
 1 a0001c0001t0084g0046
a0001c0001t0084g0046
 1 HG03516.hp1
HG03516.hp1
 intron_variant MODIFIER c.608+6846_608+6847i
others(1447): Show 
c.608+6846_608+6847insGTCTCCAGTCCGTGATACGGATTAGAAA
AGATAAGACCCTTAGGAGGCAGTGGCCACGCGGTCACGGAGATGTGTGTG
GGAGCCAGTCTCCAGTCCGTGATACGGATTAGAAAAGATAAGACCCTTAG
GAGGCAGTGGCCACGCGGTCACGGAGATGTGTGTGGGAGCCAGTCTCCAG
TCCGTGATACGGATTAGAAAAGATAAGACCCTTAGGAGGCAGTGGCCACG
CGGTCACGGAGATGTGTGTGGGAGCCGATCTCCAGTCAGTGGTGTGGATT
AGAAAAGATAAGACCCTTAGGAGGCAGTGGCCACGCGGTCACAGAGATGT
GTGTGGGAGCCGATCTCCAGTCAGTGGTGTGGATTAGAAAAGATAAGACC
CTTAGGAGGCAGTGGCCACGCGGTCACGGAGATGTGTGTGGGAGCCAGTC
TCCAGTCCGTGATACGGATTAGAAAAGATAAGACCCTTAGGAGGCAGTGG
CCACGCGGTCACGGAGATGTGTGTGGGAGCCAGTCTCCAGTCCGTGATAC
GGATTAGAAAAGATAAGACCCTTAGGAGGCAGTGGCCACGCGGTCACGGA
GATGTGTGTGGGAGCCAGTCTCCAGTCCGTGATACGGATTAGAAAAGATA
AGACCCTTAGGAGGCAGTGGCCACGCAGTCACGGAGATGTGTGTGGGAGC
CAGTCTCCAGTCCGTGATACGGATTAGAAAAGATAAGACCCTTAGGAGGC
AGTGGCCACGCGGTCACGGAGCTGTGTGTGGGAGCCGATCTCCAGTCAGT
GGTGTGGATTAGAAAAGATAAGACCCTTAGGAGGCAGTGGCCACGCGGTC
ACAGAGATGTGTGTGGGAGCCGATCTCCAGTCAGTGGTGTGGATTAGAAA
AGATAAGACCCTTAGGAGGCAGTGGCCACGCGGTCACGGAGATGTGTGTG
GGAGCCAGTCTCCAGTCCGTGATACGGATTAGAAAAGATAAGACCCTTAG
GAGGCAGTGGCCACGCGGTCACGGAGATGTGTGTGGGAGCCAGTCTCCAG
TCCGTGATACGGATTAGAAAAGATAAGACCCTTAGGAGGCAGTGGCCACG
CGGTCACGGAGATGTGTGTGGGAGCCAGTCTCCAGTCCGTGATATGGATT
AGAAAAGATAAGACCCTTAGGAGGCAGTGGCCACGTGGTCACGGAGATGT
GTGTGGGAGCCAGTCTCCAGTCCGTGATACGGATTAGAAAAGATAAGACC
CTTAGGAGGCAGTGGCCACACGGTCACGGAGATGTGTGTGGGAGCCAGTC
TCCAGTCCGTGGTATGAATTAGAAAAGATAAGACCCTTAGGAGGCAGTGG
CCACGCGGTCACGGAGATGTGTGTGGGAGCCAATCTCCAGTCAGTGGTGT
GGATTAGAAAAGATAAGACCCTTAGGAGGCAGTGGCCACGCGGTCACGGA
GATGTGTGTGGGAGCCA
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 646444
chr17:646444 T
T
 TTGGCTCC
others(1268): Show 
TTGGCTCCCACACACATCTCCGTGACCGCGTGGCCACTGCCTCCTAAGGG
TCTTATCTTTTCTAATTCATACCACGGACTGGAGACTGGCTCCCACACAC
ATCTCCGTGACCGTGTGGCCACTGCCTCCTAAGGGTCTTATCTTTTCTAA
TCCGTATCACGGACTGGAGACTGGCTCCCACACACATCTCCGTGACCACG
TGGCCACTGCCTCCTAAGGGTCTTATCTTTTCTAATCCATATCACGGACT
GGAGACTGGCTCCCACACACATCTCCGTGACCGCGTGGCCACTGCCTCCT
AAGGGTCTTATCTTTTCTAATCCGTATCACGGACTGGAGACTGGCTCCCA
CACACATCTCCGTGACCGCGTGGCCACTGCCTCCTAAGGGTCTTATCTTT
TCTAATCCGTATCACGGACTGGAGACTGGCTCCCACACACATCTCCGTGA
CCGCGTGGCCACTGCCTCCTAAGGGTCTTATCTTTTCTAATCCACACCAC
TGACTGGAGATCGGCTCCCACACACATCTCTGTGACCGCGTGGCCACTGC
CTCCTAAGGGTCTTATCTTTTCTAATCCACACCACTGACTGGAGATCGGC
TCCCACACACAGCTCCATGACCGCGTGGCCACTGCCTCCTAAGGGTCTTA
TCTTTTCTAATCCGTATCACGGACTGGAGACTGGCTCCCACACACATCTC
CGTGACTGCGTGGCCACTGCCTCCTAAGGGTCTTATCTTTTCTAATCCGT
ATCACGGACTGGAGACTGGCTCCCACACACATCTCCGTGACCGCGTGGCC
ACTGCCTCCTAAGGGTCTTATCTTTTCTAATCCGTATCACGGACTGGAGA
CTGGCTCCCACACACATCTCCGTGACCGCGTGGCCACTGCCTCCTAAGGG
TCTTATCTTTTCTAATCCGTATCACGGACTGGAGACTGGCTCCCACACAC
ATCTCCGTGACCGCGTGGCCACTGCCTCCTAAGGGTCTTATCTTTTCTAA
TCCACACCACTGACTGGAGATCGGCTCCCACACACATCTCTGTGACCGCG
TGGCCACTGCCTCCTAAGGGTCTTATCTTTTCTAATCCACACCACTGACT
GGAGATCGGCTCCCACACACATCTCCGTGACCGCGTGGCCACTGCCTCCT
AAGGGTCTTATCTTTTCTAATCCGTATCACGGACTGGAGACTGGCTCCCA
CACACATCTCCGTGACCGCGTGGCCACTGCCTCCTAAGGGTCTTATCTTT
TCTAATCCGTATCACGGACTGGAGAC
 1 a0002c0003t0018g0172
a0002c0003t0018g0172
 1 HG02129.hp1
HG02129.hp1
 intron_variant MODIFIER c.608+6846_608+6847i
others(1277): Show 
c.608+6846_608+6847insGTCTCCAGTCCGTGATACGGATTAGAAA
AGATAAGACCCTTAGGAGGCAGTGGCCACGCGGTCACGGAGATGTGTGTG
GGAGCCAGTCTCCAGTCCGTGATACGGATTAGAAAAGATAAGACCCTTAG
GAGGCAGTGGCCACGCGGTCACGGAGATGTGTGTGGGAGCCGATCTCCAG
TCAGTGGTGTGGATTAGAAAAGATAAGACCCTTAGGAGGCAGTGGCCACG
CGGTCACAGAGATGTGTGTGGGAGCCGATCTCCAGTCAGTGGTGTGGATT
AGAAAAGATAAGACCCTTAGGAGGCAGTGGCCACGCGGTCACGGAGATGT
GTGTGGGAGCCAGTCTCCAGTCCGTGATACGGATTAGAAAAGATAAGACC
CTTAGGAGGCAGTGGCCACGCGGTCACGGAGATGTGTGTGGGAGCCAGTC
TCCAGTCCGTGATACGGATTAGAAAAGATAAGACCCTTAGGAGGCAGTGG
CCACGCGGTCACGGAGATGTGTGTGGGAGCCAGTCTCCAGTCCGTGATAC
GGATTAGAAAAGATAAGACCCTTAGGAGGCAGTGGCCACGCAGTCACGGA
GATGTGTGTGGGAGCCAGTCTCCAGTCCGTGATACGGATTAGAAAAGATA
AGACCCTTAGGAGGCAGTGGCCACGCGGTCATGGAGCTGTGTGTGGGAGC
CGATCTCCAGTCAGTGGTGTGGATTAGAAAAGATAAGACCCTTAGGAGGC
AGTGGCCACGCGGTCACAGAGATGTGTGTGGGAGCCGATCTCCAGTCAGT
GGTGTGGATTAGAAAAGATAAGACCCTTAGGAGGCAGTGGCCACGCGGTC
ACGGAGATGTGTGTGGGAGCCAGTCTCCAGTCCGTGATACGGATTAGAAA
AGATAAGACCCTTAGGAGGCAGTGGCCACGCGGTCACGGAGATGTGTGTG
GGAGCCAGTCTCCAGTCCGTGATACGGATTAGAAAAGATAAGACCCTTAG
GAGGCAGTGGCCACGCGGTCACGGAGATGTGTGTGGGAGCCAGTCTCCAG
TCCGTGATATGGATTAGAAAAGATAAGACCCTTAGGAGGCAGTGGCCACG
TGGTCACGGAGATGTGTGTGGGAGCCAGTCTCCAGTCCGTGATACGGATT
AGAAAAGATAAGACCCTTAGGAGGCAGTGGCCACACGGTCACGGAGATGT
GTGTGGGAGCCAGTCTCCAGTCCGTGGTATGAATTAGAAAAGATAAGACC
CTTAGGAGGCAGTGGCCACGCGGTCACGGAGATGTGTGTGGGAGCCA
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 646444
chr17:646445 T
T
 TGGCTCCC
others(1098): Show 
TGGCTCCCACACACATCTCCGTGACCACGTGGCCACTGCCTCCTAAGGGT
CTTATCTTTTCTAATCCACACCACTGACTGGAGATTGGCTCCCACACACA
TCTCCGTGACCGCGTGGCCACTGCCTCCTAAGGGTCTTATCTTTTCTAAT
TCATACCACGGACTGGAGACTGGCTCCCACACACATCTCCGTGACCGTGT
GGCCACTGCCTCCTAAGGGTCTTATCTTTTCTAATCCGTATCACGGACTG
GAGACTGGCTCCCACACACATCTCCGTGACCACGTGGCCACTGCCTCCTA
AGGGTCTTATCTTTTCTAATCCATATCACGGACTGGAGACTGGCTCCCAC
ACACATCTCCGTGACCGCGTGGCCACTGCCTCCTAAGGGTCTTATCTTTT
CTAATCCGTATCACGGACTGGAGACTGGCTCCCACACACATCTCCGTGAC
CGCGTGGCCACTGCCTCCTAAGGGTCTTATCTTTTCTAATCCGTATCACG
GACTGGAGACTGGCTCCCACACACATCTCCGTGACCGCGTGGCCACTGCC
TCCTAAGGGTCTTATCTTTTCTAATCCACACCACTGACTGGAGATCGGCT
CCCACACACATCTCTGTGACCGCGTGGCCACTGCCTCCTAAGGGTCTTAT
CTTTTCTAATCCACACCACTGACTGGAGATCGGCTCCCACACACATCTCC
GTGACCGCGTGGCCACTGCCTCCTAAGGGTCTTATCTTTTCTAATCCGTA
TCACGGACTGGAGACTGGCTCCCACACACATCTCCGTGACTGCGTGGCCA
CTGCCTCCTAAGGGTCTTATCTTTTCTAATCCGTATCACGGACTGGAGAC
TGGCTCCCACACACATCTCCGTGACCGCGTGGCCACTGCCTCCTAAGGGT
CTTATCTTTTCTAATCCGTATCACGGACTGGAGACTGGCTCCCACACACA
TCTCCGTGACCGCGTGGCCACTGCCTCCTAAGGGTCTTATCTTTTCTAAT
CCACACCACTGACTGGAGATCGGCTCCCACACACATCTCTGTGACCGCGT
GGCCACTGCCTCCTAAGGGTCTTATCTTTTCTAATCCACACCACTGACTG
GAGATC
 5 a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
others(2): Show 
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0005g0065
a0001c0002t0013g0078
 5 HG00140.hp2
HG00280.hp1
HG00323.hp1
others(2): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp1
HG04204.hp2
NA18948.hp2
 intron_variant MODIFIER c.608+6845_608+6846i
others(1107): Show 
c.608+6845_608+6846insGATCTCCAGTCAGTGGTGTGGATTAGAA
AAGATAAGACCCTTAGGAGGCAGTGGCCACGCGGTCACAGAGATGTGTGT
GGGAGCCGATCTCCAGTCAGTGGTGTGGATTAGAAAAGATAAGACCCTTA
GGAGGCAGTGGCCACGCGGTCACGGAGATGTGTGTGGGAGCCAGTCTCCA
GTCCGTGATACGGATTAGAAAAGATAAGACCCTTAGGAGGCAGTGGCCAC
GCGGTCACGGAGATGTGTGTGGGAGCCAGTCTCCAGTCCGTGATACGGAT
TAGAAAAGATAAGACCCTTAGGAGGCAGTGGCCACGCAGTCACGGAGATG
TGTGTGGGAGCCAGTCTCCAGTCCGTGATACGGATTAGAAAAGATAAGAC
CCTTAGGAGGCAGTGGCCACGCGGTCACGGAGATGTGTGTGGGAGCCGAT
CTCCAGTCAGTGGTGTGGATTAGAAAAGATAAGACCCTTAGGAGGCAGTG
GCCACGCGGTCACAGAGATGTGTGTGGGAGCCGATCTCCAGTCAGTGGTG
TGGATTAGAAAAGATAAGACCCTTAGGAGGCAGTGGCCACGCGGTCACGG
AGATGTGTGTGGGAGCCAGTCTCCAGTCCGTGATACGGATTAGAAAAGAT
AAGACCCTTAGGAGGCAGTGGCCACGCGGTCACGGAGATGTGTGTGGGAG
CCAGTCTCCAGTCCGTGATACGGATTAGAAAAGATAAGACCCTTAGGAGG
CAGTGGCCACGCGGTCACGGAGATGTGTGTGGGAGCCAGTCTCCAGTCCG
TGATATGGATTAGAAAAGATAAGACCCTTAGGAGGCAGTGGCCACGTGGT
CACGGAGATGTGTGTGGGAGCCAGTCTCCAGTCCGTGATACGGATTAGAA
AAGATAAGACCCTTAGGAGGCAGTGGCCACACGGTCACGGAGATGTGTGT
GGGAGCCAGTCTCCAGTCCGTGGTATGAATTAGAAAAGATAAGACCCTTA
GGAGGCAGTGGCCACGCGGTCACGGAGATGTGTGTGGGAGCCAATCTCCA
GTCAGTGGTGTGGATTAGAAAAGATAAGACCCTTAGGAGGCAGTGGCCAC
GTGGTCACGGAGATGTGTGTGGGAGCC
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 646445
chr17:646471 G
G
 A
A
 39 a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0082
others(36): Show 
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0002c0003t0018g0172
a0002c0003t0073g0068
a0003c0004t0022g0004
 39 HG00621.hp2
HG01070.hp1
HG01071.hp2
others(36): Show 
HG00621.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01106.hp1
HG01167.hp2
HG01168.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01361.hp1
HG01496.hp1
HG01978.hp1
HG02129.hp1
HG02135.hp1
HG02738.hp1
HG02886.hp1
NA18906.hp2
NA18940.hp1
NA18944.hp1
NA18946.hp2
NA18959.hp2
NA18960.hp1
NA18961.hp2
NA18962.hp2
NA18967.hp1
NA18973.hp1
NA18977.hp2
NA18979.hp1
NA19007.hp1
NA19009.hp1
NA19065.hp1
NA19070.hp1
NA19079.hp1
NA19084.hp1
NA19090.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.608+6820C>T
c.608+6820C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 646471
chr17:646471 G
G
 GCGTGGCC
others(1268): Show 
GCGTGGCCACTGCCTCCTAAGGGTCTTATCTTTTCTAATCCACACCACTG
ACTGCAGATTGGCTCCCACACACATCTCCGTGACCGCGTGGCCACTGCCT
CCTAAGGGTCTTATCTTTTCTAATTCATACCACGGACTGGAGACTGGCTC
CCACACACATCTCCGTGACCGTGTGGCCACTGCCTCCTAAGGGTCTTATC
TTTTCTAATCCGTATCACGGACTGGAGACTGGCTCCCACACACATCTCCG
TGACCACGTGGCCACTGCCTCCTAAGGGTCTTATCTTTTCTAATCCATAT
CACGGACTGGAGACTGGCTCCCACACACATCTCCGTGACCGCGTGGCCAC
TGCCTCCTAAGGGTCTTATCTTTTCTAATCCGTATCACGGACTGGAGACT
GGCTCCCACACACATCTCCGTGACCGCGTGGCCACTGCCTCCTAAGGGTC
TTATCTTTTCTAATCCACACCACTGACTGGAGATCGGCTCCCACACACAT
CTCTGTGACCGCGTGGCCACTGCCTCCTAAGGGTCTTATCTTTTCTAATC
CACACCACTGACTGGAGATCGGCTCCCACACACAGCTCCATGACCGCGTG
GCCACTGCCTCCTAAGGGTCTTATCTTTTCTAATCCGTATCACGGACTGG
AGACTGGCTCCCACACACATCTCCGTGACTGCGTGGCCACTGCCTCCTAA
GGGTCTTATCTTTTCTAATCCGTATCACGGACTGGAGACTGGCTCCCACA
CACATCTCCGTGACCGCGTGGCCACTGCCTCCTAAGGGTCTTATCTTTTC
TAATCCGTATCACGGACTGGAGACTGGCTCCCACACACATCTCCGTGACC
GCGTGGCCACTGCCTCCTAAGGGTCTTATCTTTTCTAATCCGTATCACGG
ACTGGAGACTGGCTCCCACACACATCTCCGTGACCGCGTGGCCACTGCCT
CCTAAGGGTCTTATCTTTTCTAATCCACACCACTGACTGGAGATCGGCTC
CCACACACATCTCTGTGACCGCGTGGCCACTGCCTCCTAAGGGTCTTATC
TTTTCTAATCCACACCACTGACTGGAGATCGGCTCCCACACACATCTCCG
TGACCGCGTGGCCACTGCCTCCTAAGGGTCTTATCTTTTCTAATCCGTAT
CACGGACTGGAGACTGGCTCCCACACACATCTCCGTGACCGCGTGGCCAC
TGCCTCCTAAGGGTCTTATCTTTTCTAATCCGTATCACGGACTGGAGACT
GGCTCCCACACACATCTCCGTGACCA
 3 a0002c0003t0009g0218
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0009g0218
a0002c0003t0027g0169
a0002c0003t0027g0181
 3 HG02056.hp1
NA19000.hp1
NA19074.hp1
HG02056.hp1
NA19000.hp1
NA19074.hp1
 intron_variant MODIFIER c.608+6819_608+6820i
others(1277): Show 
c.608+6819_608+6820insTGGTCACGGAGATGTGTGTGGGAGCCAG
TCTCCAGTCCGTGATACGGATTAGAAAAGATAAGACCCTTAGGAGGCAGT
GGCCACGCGGTCACGGAGATGTGTGTGGGAGCCAGTCTCCAGTCCGTGAT
ACGGATTAGAAAAGATAAGACCCTTAGGAGGCAGTGGCCACGCGGTCACG
GAGATGTGTGTGGGAGCCGATCTCCAGTCAGTGGTGTGGATTAGAAAAGA
TAAGACCCTTAGGAGGCAGTGGCCACGCGGTCACAGAGATGTGTGTGGGA
GCCGATCTCCAGTCAGTGGTGTGGATTAGAAAAGATAAGACCCTTAGGAG
GCAGTGGCCACGCGGTCACGGAGATGTGTGTGGGAGCCAGTCTCCAGTCC
GTGATACGGATTAGAAAAGATAAGACCCTTAGGAGGCAGTGGCCACGCGG
TCACGGAGATGTGTGTGGGAGCCAGTCTCCAGTCCGTGATACGGATTAGA
AAAGATAAGACCCTTAGGAGGCAGTGGCCACGCGGTCACGGAGATGTGTG
TGGGAGCCAGTCTCCAGTCCGTGATACGGATTAGAAAAGATAAGACCCTT
AGGAGGCAGTGGCCACGCAGTCACGGAGATGTGTGTGGGAGCCAGTCTCC
AGTCCGTGATACGGATTAGAAAAGATAAGACCCTTAGGAGGCAGTGGCCA
CGCGGTCATGGAGCTGTGTGTGGGAGCCGATCTCCAGTCAGTGGTGTGGA
TTAGAAAAGATAAGACCCTTAGGAGGCAGTGGCCACGCGGTCACAGAGAT
GTGTGTGGGAGCCGATCTCCAGTCAGTGGTGTGGATTAGAAAAGATAAGA
CCCTTAGGAGGCAGTGGCCACGCGGTCACGGAGATGTGTGTGGGAGCCAG
TCTCCAGTCCGTGATACGGATTAGAAAAGATAAGACCCTTAGGAGGCAGT
GGCCACGCGGTCACGGAGATGTGTGTGGGAGCCAGTCTCCAGTCCGTGAT
ATGGATTAGAAAAGATAAGACCCTTAGGAGGCAGTGGCCACGTGGTCACG
GAGATGTGTGTGGGAGCCAGTCTCCAGTCCGTGATACGGATTAGAAAAGA
TAAGACCCTTAGGAGGCAGTGGCCACACGGTCACGGAGATGTGTGTGGGA
GCCAGTCTCCAGTCCGTGGTATGAATTAGAAAAGATAAGACCCTTAGGAG
GCAGTGGCCACGCGGTCACGGAGATGTGTGTGGGAGCCAATCTGCAGTCA
GTGGTGTGGATTAGAAAAGATAAGACCCTTAGGAGGCAGTGGCCACG
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 646471
chr17:646471 G
G
 GCGTGGCC
others(1353): Show 
GCGTGGCCACTGCCTCCTAAGGGTCTTATCTTTTCTAATCCACACCACTG
ACTGGAGATTGGCTCCCACACACATCTCCGTGACCGCGTGCCCACTGCCT
CCTAAGGGTCTTATCTTTTCTAATTCATACCACGGACTGGAGACTGGCTC
CCACACACATCTCCGTGACCGTGTGGCCACTGCCTCCTAAGGGTCTTATC
TTTTCTAATCCGTATCACGGACTGGAGACTGGCTCCCACACACATCTCCG
TGACCACGTGGCCACTGCCTCCTAAGGGTCTTATCTTTTCTAATCCATAT
CACGGACTGGAGACTGGCTCCCACACACATCTCCGTGACCGCGTGGCCAC
TGCCTCCTAAGGGTCTTATCTTTTCTAATCCGTATCACGGACTGGAGACT
GGCTCCCACACACATCTCCGTGACCGCGTGGCCACTGCCTCCTAAGGGTC
TTATCTTTTCTAATCCGTATCACGGACTGGAGACTGGCTCCCACACACAT
CTCCGTGACCGCGTGGCCACTGCCTCCTAAGGGTCTTATCTTTTCTAATC
CACACCACTGACTGGAGATCGGCTCCCACACACATCTCTGTGACCGCGTG
GCCACTGCCTCCTAAGGGTCTTATCTTTTCTAATCCACACCACTGACTGG
AGATCGGCTCCCACACACAGCTCCGTGACCGCGTGGCCACTGCCTCCTAA
GGGTCTTATCTTTTCTAATCCGTATCACGGACTGGAGACTGGCTCCCACA
CACATCTCCGTGACCGCGTGGCCACTGCCTCCTAAGGGTCTTATCTTTTC
TAATCCGTATCACGGACTGGAGACTGGCTCCCACACACATCTCCGTGACC
GCGTGGCCACTGCCTCCTAAGGGTCTTATCTTTTCTAATCCGTATCACGG
ACTGGAGACTGGCTCCCACACACATCTCCGTGACCGCGTGGCCACTGCCT
CCTAAGGGTCTTATCTTTTCTAATCCGTATCACGGACTGGAGACTGGCTC
CCACACACATCTCCGTGACCGCGTGGCCACTGCCTCCTAAGGGTCTTATC
TTTTCTAATCCACACCACTGACTGGAGATCGGCTCCCACACACATCTCCG
TGACCGCGTGGCCACTGCCTCCTAAGGGTCTTATCTTTTCTAATCCACAC
CACTGACTGGAGATCGGCTCCCACACACATCTCCGTGACCGCGTGGCCAC
TGCCTCCTAAGGGTCTTATCTTTTCTAATCCGTATCACGGACTGGAGACT
GGCTCCCACACACATCTCCGTGACCGCGTGGCCACTGCCTCCTAAGGGTC
TTATCTTTTCTAATCCGTATCACGGACTGGAGACTGGCTCCCACACACAT
CTCCGTGACCA
 2 a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0028g0196
a0001c0001t0028g0197
 2 HG02622.hp1
HG02723.hp2
HG02622.hp1
HG02723.hp2
 intron_variant MODIFIER c.608+6819_608+6820i
others(1362): Show 
c.608+6819_608+6820insTGGTCACGGAGATGTGTGTGGGAGCCAG
TCTCCAGTCCGTGATACGGATTAGAAAAGATAAGACCCTTAGGAGGCAGT
GGCCACGCGGTCACGGAGATGTGTGTGGGAGCCAGTCTCCAGTCCGTGAT
ACGGATTAGAAAAGATAAGACCCTTAGGAGGCAGTGGCCACGCGGTCACG
GAGATGTGTGTGGGAGCCGATCTCCAGTCAGTGGTGTGGATTAGAAAAGA
TAAGACCCTTAGGAGGCAGTGGCCACGCGGTCACGGAGATGTGTGTGGGA
GCCGATCTCCAGTCAGTGGTGTGGATTAGAAAAGATAAGACCCTTAGGAG
GCAGTGGCCACGCGGTCACGGAGATGTGTGTGGGAGCCAGTCTCCAGTCC
GTGATACGGATTAGAAAAGATAAGACCCTTAGGAGGCAGTGGCCACGCGG
TCACGGAGATGTGTGTGGGAGCCAGTCTCCAGTCCGTGATACGGATTAGA
AAAGATAAGACCCTTAGGAGGCAGTGGCCACGCGGTCACGGAGATGTGTG
TGGGAGCCAGTCTCCAGTCCGTGATACGGATTAGAAAAGATAAGACCCTT
AGGAGGCAGTGGCCACGCGGTCACGGAGATGTGTGTGGGAGCCAGTCTCC
AGTCCGTGATACGGATTAGAAAAGATAAGACCCTTAGGAGGCAGTGGCCA
CGCGGTCACGGAGCTGTGTGTGGGAGCCGATCTCCAGTCAGTGGTGTGGA
TTAGAAAAGATAAGACCCTTAGGAGGCAGTGGCCACGCGGTCACAGAGAT
GTGTGTGGGAGCCGATCTCCAGTCAGTGGTGTGGATTAGAAAAGATAAGA
CCCTTAGGAGGCAGTGGCCACGCGGTCACGGAGATGTGTGTGGGAGCCAG
TCTCCAGTCCGTGATACGGATTAGAAAAGATAAGACCCTTAGGAGGCAGT
GGCCACGCGGTCACGGAGATGTGTGTGGGAGCCAGTCTCCAGTCCGTGAT
ACGGATTAGAAAAGATAAGACCCTTAGGAGGCAGTGGCCACGCGGTCACG
GAGATGTGTGTGGGAGCCAGTCTCCAGTCCGTGATATGGATTAGAAAAGA
TAAGACCCTTAGGAGGCAGTGGCCACGTGGTCACGGAGATGTGTGTGGGA
GCCAGTCTCCAGTCCGTGATACGGATTAGAAAAGATAAGACCCTTAGGAG
GCAGTGGCCACACGGTCACGGAGATGTGTGTGGGAGCCAGTCTCCAGTCC
GTGGTATGAATTAGAAAAGATAAGACCCTTAGGAGGCAGTGGGCACGCGG
TCACGGAGATGTGTGTGGGAGCCAATCTCCAGTCAGTGGTGTGGATTAGA
AAAGATAAGACCCTTAGGAGGCAGTGGCCACG
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 646471
chr17:646471 G
G
 GCGTGGCC
others(1353): Show 
GCGTGGCCACTGCCTCCTAAGGGTCTTATCTTTTCTAATCCACACCACTG
ACTGGAGATTGGCTCCCACACACATCTCCGTGACCGCGTGCCCACTGCCT
CCTAAGGGTCTTATCTTTTCTAATTCATACCACGGACTGGAGACTGGCTC
CCACACACATCTCCGTGACCGTGTGGCCACTGCCTCCTAAGGGTCTTATC
TTTTCTAATCCGTATCACGGACTGGAGACTGGCTCCCACACACATCTCCG
TGACCACGTGGCCACTGCCTCCTAAGGGTCTTATCTTTTCTAATCCATAT
CACGGACTGGAGACTGGCTCCCACACACATCTCCGTGACCGCGTGGCCAC
TGCCTCCTAAGGGTCTTATCTTTTCTAATCCGTATCACGGACTGGAGACT
GGCTCCCACACACATCTCCGTGACCGCGTGGCCACTGCCTCCTAAGGGTC
TTATCTTTTCTAATCCGTATCACGGACTGGAGACTGGCTCCCACACACAT
CTCCGTGACCGCGTGGCCACTGCCTCCTAAGGGTCTTATCTTTTCTAATC
CACACCACTGACTGGAGATCGGCTCCCACACACATCTCTGTGACCGCGTG
GCCACTGCCTCCTAAGGGTCTTATCTTTTCTAATCCACACCACTGACTGG
AGATCGGCTCCCACACACAGCTCCGTGACCGCGTGGCCACTGCCTCCTAA
GGGTCTTATCTTTTCTAATCCGTATCACGGACTGGAGACTGGCTCCCACA
CACATCTCCGTGACTGCGTGGCCACTGCCTCCTAAGGGTCTTATCTTTTC
TAATCCGTATCACGGACTGGAGACTGGCTCCCACACACATCTCCGTGACC
GCGTGGCCACTGCCTCCTAAGGGTCTTATCTTTTCTAATCCGTATCACGG
ACTGGAGACTGGCTCCCACACACATCTCCGTGACCGCGTGGCCACTGCCT
CCTAAGGGTCTTATCTTTTCTAATCCGTATCACGGACTGGAGACTGGCTC
CCACACACATCTCCGTGACCGCGTGGCCACTGCCTCCTAAGGGTCTTATC
TTTTCTAATCCACACCACTGACTGGAGATCGGCTCCCACACACATCTCTG
TGACCGCGTGGCCACTGCCTCCTAAGGGTCTTATCTTTTCTAATCCACAC
CACTGACTGGAGATCGGCTCCCACACACATCTCCGTGACCGCGTGGCCAC
TGCCTCCTAAGGGTCTTATCTTTTCTAATCCGTATCACGGACTGGAGACT
GGCTCCCACACACATCTCCGTGACCGCGTGGCCACTGCCTCCTAAGGGTC
TTATCTTTTCTAATCCGTATCACGGACTGGAGACTGGCTCCCACACACAT
CTCCGTGACCA
 10 a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0031g0153
others(7): Show 
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0088g0152
a0001c0001t0097g0199
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0118g0195
a0001c0001t0134g0154
 10 HG01346.hp2
HG01884.hp1
HG01891.hp2
others(7): Show 
HG01346.hp2
HG01884.hp1
HG01891.hp2
HG02572.hp2
HG02622.hp2
HG02922.hp2
HG03139.hp1
HG03139.hp2
NA20129.hp2
NA20300.hp1
 intron_variant MODIFIER c.608+6819_608+6820i
others(1362): Show 
c.608+6819_608+6820insTGGTCACGGAGATGTGTGTGGGAGCCAG
TCTCCAGTCCGTGATACGGATTAGAAAAGATAAGACCCTTAGGAGGCAGT
GGCCACGCGGTCACGGAGATGTGTGTGGGAGCCAGTCTCCAGTCCGTGAT
ACGGATTAGAAAAGATAAGACCCTTAGGAGGCAGTGGCCACGCGGTCACG
GAGATGTGTGTGGGAGCCGATCTCCAGTCAGTGGTGTGGATTAGAAAAGA
TAAGACCCTTAGGAGGCAGTGGCCACGCGGTCACAGAGATGTGTGTGGGA
GCCGATCTCCAGTCAGTGGTGTGGATTAGAAAAGATAAGACCCTTAGGAG
GCAGTGGCCACGCGGTCACGGAGATGTGTGTGGGAGCCAGTCTCCAGTCC
GTGATACGGATTAGAAAAGATAAGACCCTTAGGAGGCAGTGGCCACGCGG
TCACGGAGATGTGTGTGGGAGCCAGTCTCCAGTCCGTGATACGGATTAGA
AAAGATAAGACCCTTAGGAGGCAGTGGCCACGCGGTCACGGAGATGTGTG
TGGGAGCCAGTCTCCAGTCCGTGATACGGATTAGAAAAGATAAGACCCTT
AGGAGGCAGTGGCCACGCAGTCACGGAGATGTGTGTGGGAGCCAGTCTCC
AGTCCGTGATACGGATTAGAAAAGATAAGACCCTTAGGAGGCAGTGGCCA
CGCGGTCACGGAGCTGTGTGTGGGAGCCGATCTCCAGTCAGTGGTGTGGA
TTAGAAAAGATAAGACCCTTAGGAGGCAGTGGCCACGCGGTCACAGAGAT
GTGTGTGGGAGCCGATCTCCAGTCAGTGGTGTGGATTAGAAAAGATAAGA
CCCTTAGGAGGCAGTGGCCACGCGGTCACGGAGATGTGTGTGGGAGCCAG
TCTCCAGTCCGTGATACGGATTAGAAAAGATAAGACCCTTAGGAGGCAGT
GGCCACGCGGTCACGGAGATGTGTGTGGGAGCCAGTCTCCAGTCCGTGAT
ACGGATTAGAAAAGATAAGACCCTTAGGAGGCAGTGGCCACGCGGTCACG
GAGATGTGTGTGGGAGCCAGTCTCCAGTCCGTGATATGGATTAGAAAAGA
TAAGACCCTTAGGAGGCAGTGGCCACGTGGTCACGGAGATGTGTGTGGGA
GCCAGTCTCCAGTCCGTGATACGGATTAGAAAAGATAAGACCCTTAGGAG
GCAGTGGCCACACGGTCACGGAGATGTGTGTGGGAGCCAGTCTCCAGTCC
GTGGTATGAATTAGAAAAGATAAGACCCTTAGGAGGCAGTGGGCACGCGG
TCACGGAGATGTGTGTGGGAGCCAATCTCCAGTCAGTGGTGTGGATTAGA
AAAGATAAGACCCTTAGGAGGCAGTGGCCACG
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 646471
chr17:646471 G
G
 GCGTGGCC
others(1353): Show 
GCGTGGCCACTGCCTCCTAAGGGTCTTATCTTTTCTAATCCACACCACTG
ACTGGAGATTGGCTCCCACACACATCTCCGTGACCGCGTGGCCACTGCCT
CCTAAGGGTCTTATCTTTTCTAATTCATACCACGGACTGGAGACTGGCTC
CCACACACATCTCCGTGACCGCGTGGCCACTGCCTCCTAAGGGTCTTATC
TTTTCTAATCCGTATCACGGACTGGAGACTGGCTCCCACACACATCTCCG
TGACCACGTGGCCACTGCCTCCTAAGGGTCTTATCTTTTCTAATCCATAT
CACGGACTGGAGACTGGCTCCCACACACATCTCCGTGACCACGTGGCCAC
TGCCTCCTAAGGGTCTTATCTTTTCTAATCCGTATCACGGACTGGAGACT
GGCTCCCACACACATCTCCGTGACCGCGTGGCCACTGCCTCCTAAGGGTC
TTATCTTTTCTAATCCGTATCACGGACTGGAGACTGGCTCCCACACACAT
CTCCGTGACCGCGTGGCCACTGCCTCCTAAGGGTCTTATCTTTTCTAATC
CACACCACTGACTGGAGATCGGCTCCCACACACATCTCTGTGACCGCGTG
GCCACTGCCTCCTAAGGGTCTTATCTTTTCTAATCCACACCACTGACTGG
AGATCGGCTCCCACACACAGCTCCGTGACCGCGTGGCCACTGCCTCCTAA
GGGTCTTATCTTTTCTAATCCGTATCACGGACTGGAGACTGGCTCCCACA
CACATCTCCGTGACTGCGTGGCCACTGCCTCCTAAGGGTCTTATCTTTTC
TAATCCGTATCACGGACTGGAGACTGGCTCCCACACACATCTCCGTGACC
GCGTGGCCACTGCCTCCTAAGGGTCTTATCTTTTCTAATCCGTATCACGG
ACTGGAGACTGGCTCCCACACACATCTCCGTGACCGCGTGGCCACTGCCT
CCTAAGGGTCTTATCTTTTCTAATCCGTATCACGGACTGGAGACTGGCTC
CCACACACATCTCCGTGACCGCGTGGCCACTGCCTCCTAAGGGTCTTATC
TTTTCTAATCCACACCACTGACTGGAGATCGGCTCCCACACACATCTCTG
TGACCGCGTGGCCACTGCCTCCTAAGGGTCTTATCTTTTCTAATCCACAC
CACTGACTGGAGATCGGCTCCCACACACATCTCCGTGACCGCGTGGCCAC
TGCCTCCTAAGGGTCTTATCTTTTCTAATCCGTATCACGGACTGGAGACT
GGCTCCCACACACATCTCCGTGACCGCGTGGCCACTGCCTCCTAAGGGTC
TTATCTTTTCTAATCCGTATCACGGACTGGAGACTGGCTCCCACACACAT
CTCCGTGACCA
 1 a0001c0015t0126g0149
a0001c0015t0126g0149
 1 HG02723.hp1
HG02723.hp1
 intron_variant MODIFIER c.608+6819_608+6820i
others(1362): Show 
c.608+6819_608+6820insTGGTCACGGAGATGTGTGTGGGAGCCAG
TCTCCAGTCCGTGATACGGATTAGAAAAGATAAGACCCTTAGGAGGCAGT
GGCCACGCGGTCACGGAGATGTGTGTGGGAGCCAGTCTCCAGTCCGTGAT
ACGGATTAGAAAAGATAAGACCCTTAGGAGGCAGTGGCCACGCGGTCACG
GAGATGTGTGTGGGAGCCGATCTCCAGTCAGTGGTGTGGATTAGAAAAGA
TAAGACCCTTAGGAGGCAGTGGCCACGCGGTCACAGAGATGTGTGTGGGA
GCCGATCTCCAGTCAGTGGTGTGGATTAGAAAAGATAAGACCCTTAGGAG
GCAGTGGCCACGCGGTCACGGAGATGTGTGTGGGAGCCAGTCTCCAGTCC
GTGATACGGATTAGAAAAGATAAGACCCTTAGGAGGCAGTGGCCACGCGG
TCACGGAGATGTGTGTGGGAGCCAGTCTCCAGTCCGTGATACGGATTAGA
AAAGATAAGACCCTTAGGAGGCAGTGGCCACGCGGTCACGGAGATGTGTG
TGGGAGCCAGTCTCCAGTCCGTGATACGGATTAGAAAAGATAAGACCCTT
AGGAGGCAGTGGCCACGCAGTCACGGAGATGTGTGTGGGAGCCAGTCTCC
AGTCCGTGATACGGATTAGAAAAGATAAGACCCTTAGGAGGCAGTGGCCA
CGCGGTCACGGAGCTGTGTGTGGGAGCCGATCTCCAGTCAGTGGTGTGGA
TTAGAAAAGATAAGACCCTTAGGAGGCAGTGGCCACGCGGTCACAGAGAT
GTGTGTGGGAGCCGATCTCCAGTCAGTGGTGTGGATTAGAAAAGATAAGA
CCCTTAGGAGGCAGTGGCCACGCGGTCACGGAGATGTGTGTGGGAGCCAG
TCTCCAGTCCGTGATACGGATTAGAAAAGATAAGACCCTTAGGAGGCAGT
GGCCACGCGGTCACGGAGATGTGTGTGGGAGCCAGTCTCCAGTCCGTGAT
ACGGATTAGAAAAGATAAGACCCTTAGGAGGCAGTGGCCACGTGGTCACG
GAGATGTGTGTGGGAGCCAGTCTCCAGTCCGTGATATGGATTAGAAAAGA
TAAGACCCTTAGGAGGCAGTGGCCACGTGGTCACGGAGATGTGTGTGGGA
GCCAGTCTCCAGTCCGTGATACGGATTAGAAAAGATAAGACCCTTAGGAG
GCAGTGGCCACGCGGTCACGGAGATGTGTGTGGGAGCCAGTCTCCAGTCC
GTGGTATGAATTAGAAAAGATAAGACCCTTAGGAGGCAGTGGCCACGCGG
TCACGGAGATGTGTGTGGGAGCCAATCTCCAGTCAGTGGTGTGGATTAGA
AAAGATAAGACCCTTAGGAGGCAGTGGCCACG
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 646471
chr17:646471 G
G
 GCGTGGCC
others(1353): Show 
GCGTGGCCACTGCCTCCTAAGGGTCTTATCTTTTCTAATCCACACCACTG
ACTGGAGATTGGCTCCCACACACATCTCCGTGACCGCGTGGCCACTGCCT
CCTAAGGGTCTTATCTTTTCTAATTCATACCACGGACTGGAGACTGGCTC
CCACACACATCTCCGTGACCGCGTGGCCACTGCCTCCTAAGGGTCTTATC
TTTTCTAATCCGTATCACGGACTGGAGACTGGCTCCCACACACATCTCCG
TGACCACGTGGCCACTGCCTCCTAAGGGTCTTATCTTTTCTAATCCATAT
CACGGACTGGAGACTGGCTCCCACACACATCTCCGTGACCGCGTGGCCAC
TGCCTCCTAAGGGTCTTATCTTTTCTAATCCGTATCACGGACTGGAGACT
GGCTCCCACACACATCTCCGTGACCGCGTGGCCACTGCCTCCTAAGGGTC
TTATCTTTTCTAATCCGTATCACGGACTGGAGACTGGCTCCCACACACAT
CTCCGTGACCGCGTGGCCACTGCCTCCTAAGGGTCTTATCTTTTCTAATC
CACACCACTGACTGGAGATCGGCTCCCACACACATCTCTGTGACCGCGTG
GCCACTGCCTCCTAAGGGTCTTATCTTTTCTAATCCACACCACTGACTGG
AGATCGGCTCCCACACACAGCTCCGTGACCGCGTGGCCACTGCCTCCTAA
GGGTCTTATCTTTTCTAATCCGTATCACGGACTGGAGACTGGCTCCCACA
CACATCTCCGTGACTGCGTGGCCACTGCCTCCTAAGGGTCTTATCTTTTC
TAATCCGTATCACGGACTGGAGACTGGCTCCCACACACATCTCCGTGACC
GCGTGGCCACTGCCTCCTAAGGGTCTTATCTTTTCTAATCCGTATCACGG
ACTGGAGACTGGCTCCCACACACATCTCCGTGACCGCGTGGCCACTGCCT
CCTAAGGGTCTTATCTTTTCTAATCCGTATCACGGACTGGAGACTGGCTC
CCACACACATCTCCGTGACCGCGTGGCCACTGCCTCCTAAGGGTCTTATC
TTTTCTAATCCACACCACTGACTGGAGATCGGCTCCCACACACATCTCTG
TGACCGCGTGGCCACTGCCTCCTAAGGGTCTTATCTTTTCTAATCCACAC
CACTGACTGGAGATCGGCTCCCACACACATCTCCGTGACCGCGTGGCCAC
TGCCTCCTAAGGGTCTTATCTTTTCTAATCCGTATCACGGACTGGAGACT
GGCTCCCACACACATCTCCGTGACCGCGTGGCCACTGCCTCCTAAGGGTC
TTATCTTTTCTAATCCGTATCACGGACTGGAGACTGGCTCCCACACACAT
CTCCGTGACCA
 1 a0001c0014t0135g0166
a0001c0014t0135g0166
 1 HG02572.hp1
HG02572.hp1
 intron_variant MODIFIER c.608+6819_608+6820i
others(1362): Show 
c.608+6819_608+6820insTGGTCACGGAGATGTGTGTGGGAGCCAG
TCTCCAGTCCGTGATACGGATTAGAAAAGATAAGACCCTTAGGAGGCAGT
GGCCACGCGGTCACGGAGATGTGTGTGGGAGCCAGTCTCCAGTCCGTGAT
ACGGATTAGAAAAGATAAGACCCTTAGGAGGCAGTGGCCACGCGGTCACG
GAGATGTGTGTGGGAGCCGATCTCCAGTCAGTGGTGTGGATTAGAAAAGA
TAAGACCCTTAGGAGGCAGTGGCCACGCGGTCACAGAGATGTGTGTGGGA
GCCGATCTCCAGTCAGTGGTGTGGATTAGAAAAGATAAGACCCTTAGGAG
GCAGTGGCCACGCGGTCACGGAGATGTGTGTGGGAGCCAGTCTCCAGTCC
GTGATACGGATTAGAAAAGATAAGACCCTTAGGAGGCAGTGGCCACGCGG
TCACGGAGATGTGTGTGGGAGCCAGTCTCCAGTCCGTGATACGGATTAGA
AAAGATAAGACCCTTAGGAGGCAGTGGCCACGCGGTCACGGAGATGTGTG
TGGGAGCCAGTCTCCAGTCCGTGATACGGATTAGAAAAGATAAGACCCTT
AGGAGGCAGTGGCCACGCAGTCACGGAGATGTGTGTGGGAGCCAGTCTCC
AGTCCGTGATACGGATTAGAAAAGATAAGACCCTTAGGAGGCAGTGGCCA
CGCGGTCACGGAGCTGTGTGTGGGAGCCGATCTCCAGTCAGTGGTGTGGA
TTAGAAAAGATAAGACCCTTAGGAGGCAGTGGCCACGCGGTCACAGAGAT
GTGTGTGGGAGCCGATCTCCAGTCAGTGGTGTGGATTAGAAAAGATAAGA
CCCTTAGGAGGCAGTGGCCACGCGGTCACGGAGATGTGTGTGGGAGCCAG
TCTCCAGTCCGTGATACGGATTAGAAAAGATAAGACCCTTAGGAGGCAGT
GGCCACGCGGTCACGGAGATGTGTGTGGGAGCCAGTCTCCAGTCCGTGAT
ACGGATTAGAAAAGATAAGACCCTTAGGAGGCAGTGGCCACGCGGTCACG
GAGATGTGTGTGGGAGCCAGTCTCCAGTCCGTGATATGGATTAGAAAAGA
TAAGACCCTTAGGAGGCAGTGGCCACGTGGTCACGGAGATGTGTGTGGGA
GCCAGTCTCCAGTCCGTGATACGGATTAGAAAAGATAAGACCCTTAGGAG
GCAGTGGCCACGCGGTCACGGAGATGTGTGTGGGAGCCAGTCTCCAGTCC
GTGGTATGAATTAGAAAAGATAAGACCCTTAGGAGGCAGTGGCCACGCGG
TCACGGAGATGTGTGTGGGAGCCAATCTCCAGTCAGTGGTGTGGATTAGA
AAAGATAAGACCCTTAGGAGGCAGTGGCCACG
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 646471
chr17:646471 G
G
 GCGTGGCC
others(1268): Show 
GCGTGGCCACTGCCTCCTAAGGGTCTTATCTTTTCTAATCCACACCACTG
ACTGGAGATTGGCTCCCACACACATCTCCGTGACCGCGTGGCCACTGCCT
CCTAAGGGTCTTATCTTTTCTAATTCATACCACGGACTGGAGACTGGCTC
CCACACACATCTCCGTGACCGTGTGGCCACTGCCTCCTAAGGGTCTTATC
TTTTCTAATCCGTATCACGGACTGGAGACTGGCTCCCACACACATCTCCG
TGACCACGTGGCCACTGCCTCCTAAGGGTCTTATCTTTTCTAATCCATAT
CACGGACTGGAGACTGGCTCCCACACACATCTCCGTGACCGCGTGGCCAC
TGCCTCCTAAGGGTCTTATCTTTTCTAATCCGTATCACGGACTGGAGACT
GGCTCCCACACACATCTCCGTGACCGCGTGGCCACTGCCTCCTAAGGGTC
TTATCTTTTCTAATCCACACCACTGACTGGAGATCGGCTCCCACACACAT
CTCTGTGACCGCGTGGCCACTGCCTCCTAAGGGTCTTATCTTTTCTAATC
CACACCACTGACTGGAGATCGGCTCCCACACACAGCTCCATGACCGCGTG
GCCACTGCCTCCTAAGGGTCTTATCTTTTCTAATCCGTATCACGGACTGG
AGACTGGCTCCCACACACATCTCCGTGACTGCGTGGCCACTGCCTCCTAA
GGGTCTTATCTTTTCTAATCCGTATCACGGACTGGAGACTGGCTCCCACA
CACATCTCCGTGACCGCGTGGCCACTGCCTCCTAAGGGTCTTATCTTTTC
TAATCCGTATCACGGACTGGAGACTGGCTCCCACACACATCTCCGTGACC
GCGTGGCCACTGCCTCCTAAGGGTCTTATCTTTTCTAATCCGTATCACGG
ACTGGAGACTGGCTCCCACACACATCTCCGTGACCGCGTGGCCACTGCCT
CCTAAGGGTCTTATCTTTTCTAATCCACACCACTGACTGGAGATCGGCTC
CCACACACATCTCTGTGACCGCGTGGCCACTGCCTCCTAAGGGTCTTATC
TTTTCTAATCCACACCACTGACTGGAGATCGGCTCCCACACACATCTCCG
TGACCGCGTGGCCACTGCCTCCTAAGGGTCTTATCTTTTCTAATCCGTAT
CACGGACTGGAGACTGGCTCCCACACACATCTCCGTGACCGCGTGGCCAC
TGCCTCCTAAGGGTCTTATCTTTTCTAATCCGTATCACGGACTGGAGACT
GGCTCCCACACACATCTCCGTGACCA
 16 a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
others(13): Show 
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0018g0231
a0002c0003t0085g0184
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0099g0192
a0002c0003t0104g0208
a0002c0003t0145g0187
a0002c0003t0150g0191
 16 HG00438.hp2
HG01099.hp1
HG01928.hp1
others(13): Show 
HG00438.hp2
HG01099.hp1
HG01928.hp1
HG01981.hp1
HG02040.hp1
HG02083.hp1
HG02293.hp1
HG02300.hp1
HG03491.hp2
HG03942.hp1
HG04199.hp1
NA18612.hp1
NA18987.hp1
NA19010.hp1
NA19080.hp2
NA19084.hp2
 intron_variant MODIFIER c.608+6819_608+6820i
others(1277): Show 
c.608+6819_608+6820insTGGTCACGGAGATGTGTGTGGGAGCCAG
TCTCCAGTCCGTGATACGGATTAGAAAAGATAAGACCCTTAGGAGGCAGT
GGCCACGCGGTCACGGAGATGTGTGTGGGAGCCAGTCTCCAGTCCGTGAT
ACGGATTAGAAAAGATAAGACCCTTAGGAGGCAGTGGCCACGCGGTCACG
GAGATGTGTGTGGGAGCCGATCTCCAGTCAGTGGTGTGGATTAGAAAAGA
TAAGACCCTTAGGAGGCAGTGGCCACGCGGTCACAGAGATGTGTGTGGGA
GCCGATCTCCAGTCAGTGGTGTGGATTAGAAAAGATAAGACCCTTAGGAG
GCAGTGGCCACGCGGTCACGGAGATGTGTGTGGGAGCCAGTCTCCAGTCC
GTGATACGGATTAGAAAAGATAAGACCCTTAGGAGGCAGTGGCCACGCGG
TCACGGAGATGTGTGTGGGAGCCAGTCTCCAGTCCGTGATACGGATTAGA
AAAGATAAGACCCTTAGGAGGCAGTGGCCACGCGGTCACGGAGATGTGTG
TGGGAGCCAGTCTCCAGTCCGTGATACGGATTAGAAAAGATAAGACCCTT
AGGAGGCAGTGGCCACGCAGTCACGGAGATGTGTGTGGGAGCCAGTCTCC
AGTCCGTGATACGGATTAGAAAAGATAAGACCCTTAGGAGGCAGTGGCCA
CGCGGTCATGGAGCTGTGTGTGGGAGCCGATCTCCAGTCAGTGGTGTGGA
TTAGAAAAGATAAGACCCTTAGGAGGCAGTGGCCACGCGGTCACAGAGAT
GTGTGTGGGAGCCGATCTCCAGTCAGTGGTGTGGATTAGAAAAGATAAGA
CCCTTAGGAGGCAGTGGCCACGCGGTCACGGAGATGTGTGTGGGAGCCAG
TCTCCAGTCCGTGATACGGATTAGAAAAGATAAGACCCTTAGGAGGCAGT
GGCCACGCGGTCACGGAGATGTGTGTGGGAGCCAGTCTCCAGTCCGTGAT
ATGGATTAGAAAAGATAAGACCCTTAGGAGGCAGTGGCCACGTGGTCACG
GAGATGTGTGTGGGAGCCAGTCTCCAGTCCGTGATACGGATTAGAAAAGA
TAAGACCCTTAGGAGGCAGTGGCCACACGGTCACGGAGATGTGTGTGGGA
GCCAGTCTCCAGTCCGTGGTATGAATTAGAAAAGATAAGACCCTTAGGAG
GCAGTGGCCACGCGGTCACGGAGATGTGTGTGGGAGCCAATCTCCAGTCA
GTGGTGTGGATTAGAAAAGATAAGACCCTTAGGAGGCAGTGGCCACG
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 646471
chr17:646471 G
G
 GCGTGGCC
others(1353): Show 
GCGTGGCCACTGCCTCCTAAGGGTCTTATCTTTTCTAATCCACACCACTG
ACTGGAGATTGGCTCCCACACACATCTCCGTGACCGCGTGGCCACTGCCT
CCTAAGGGTCTTATCTTTTCTAATTCATACCACGGACTGGAGACTGGCTC
CCACACACATCTCCGTGACCGTGTGGCCACTGCCTCCTAAGGGTCTTATC
TTTTCTAATCCGTATCACGGACTGGAGACTGGCTCCCACACACATCTCCG
TGACCACGTGGCCACTGCCTCCTAAGGGTCTTATCTTTTCTAATCCATAT
CACGGACTGGAGACTGGCTCCCACACACATCTCCGTGACCGCGTGGCCAC
TGCCTCCTAAGGGTCTTATCTTTTCTAATCCGTATCACGGACTGGAGACT
GGCTCCCACACACATCTCCGTGACCGCGTGGCCACTGCCTCCTAAGGGTC
TTATCTTTTCTAATCCGTATCACGGACTGGAGACTGGCTCCCACACACAT
CTCCGTGACCGCGTGGCCACTGCCTCCTAAGGGTCTTATCTTTTCTAATC
CACACCACTGACTGGAGATCAGCTCCCACACACATCTCTGTGACCGCGTG
GCCACTGCCTCCTAAGGGTCTTATCTTTTCTAATCCACACCACTGACTGG
AGATCGGCTCCCACACACAGCTCCGTGACCGCGTGGCCACTGCCTCCTAA
GGGTCTTATCTTTTCTAATCCGTATCACGGACTGGAGACTGGCTCCCACA
CACATCTCCGTGACTGCGTGGCCACTGCCTCCTAAGGGTCTTATCTTTTC
TAATCCGTATCACGGACTGGAGACTGGCTCCCACACACATCTCCGTGACC
GCGTGGCCACTGCCTCCTAAGGGTCTTATCTTTTCTAATCCGTATCACGG
ACTGGAGACTGGCTCCCACACACATCTCCGTGACCGCGTGGCCACTGCCT
CCTAAGGGTCTTATCTTTTCTAATCCGTATCACGGACTGGAGACTGGCTC
CCACACACATCTCCGTGACCGCGTGGCCACTGCCTCCTAAGGGTCTTATC
TTTTCTAATCCACACCACTGACTGGAGATCGGCTCCCACACACATCTCTG
TGACCGCGTGGCCACTGCCTCCTAAGGGTCTTATCTTTTCTAATCCACAC
CACTGACTGGAGATCGGCTCCCACACACATCTCCGTGACCGCGTGGCCAC
TGCCTCCTAAGGGTCTTATCTTTTCTAATCCGTATCACGGACTGGAGACT
GGCTCCCACACACATCTCCGTGACCGCGTGGCCACTGCCTCCTAAGGGTC
TTATCTTTTCTAATCCGTATCACGGACTGGAGACTGGCTCCCACACACAT
CTCCGTGACCA
 1 a0001c0001t0032g0204
a0001c0001t0032g0204
 1 HG02922.hp1
HG02922.hp1
 intron_variant MODIFIER c.608+6819_608+6820i
others(1362): Show 
c.608+6819_608+6820insTGGTCACGGAGATGTGTGTGGGAGCCAG
TCTCCAGTCCGTGATACGGATTAGAAAAGATAAGACCCTTAGGAGGCAGT
GGCCACGCGGTCACGGAGATGTGTGTGGGAGCCAGTCTCCAGTCCGTGAT
ACGGATTAGAAAAGATAAGACCCTTAGGAGGCAGTGGCCACGCGGTCACG
GAGATGTGTGTGGGAGCCGATCTCCAGTCAGTGGTGTGGATTAGAAAAGA
TAAGACCCTTAGGAGGCAGTGGCCACGCGGTCACAGAGATGTGTGTGGGA
GCCGATCTCCAGTCAGTGGTGTGGATTAGAAAAGATAAGACCCTTAGGAG
GCAGTGGCCACGCGGTCACGGAGATGTGTGTGGGAGCCAGTCTCCAGTCC
GTGATACGGATTAGAAAAGATAAGACCCTTAGGAGGCAGTGGCCACGCGG
TCACGGAGATGTGTGTGGGAGCCAGTCTCCAGTCCGTGATACGGATTAGA
AAAGATAAGACCCTTAGGAGGCAGTGGCCACGCGGTCACGGAGATGTGTG
TGGGAGCCAGTCTCCAGTCCGTGATACGGATTAGAAAAGATAAGACCCTT
AGGAGGCAGTGGCCACGCAGTCACGGAGATGTGTGTGGGAGCCAGTCTCC
AGTCCGTGATACGGATTAGAAAAGATAAGACCCTTAGGAGGCAGTGGCCA
CGCGGTCACGGAGCTGTGTGTGGGAGCCGATCTCCAGTCAGTGGTGTGGA
TTAGAAAAGATAAGACCCTTAGGAGGCAGTGGCCACGCGGTCACAGAGAT
GTGTGTGGGAGCTGATCTCCAGTCAGTGGTGTGGATTAGAAAAGATAAGA
CCCTTAGGAGGCAGTGGCCACGCGGTCACGGAGATGTGTGTGGGAGCCAG
TCTCCAGTCCGTGATACGGATTAGAAAAGATAAGACCCTTAGGAGGCAGT
GGCCACGCGGTCACGGAGATGTGTGTGGGAGCCAGTCTCCAGTCCGTGAT
ACGGATTAGAAAAGATAAGACCCTTAGGAGGCAGTGGCCACGCGGTCACG
GAGATGTGTGTGGGAGCCAGTCTCCAGTCCGTGATATGGATTAGAAAAGA
TAAGACCCTTAGGAGGCAGTGGCCACGTGGTCACGGAGATGTGTGTGGGA
GCCAGTCTCCAGTCCGTGATACGGATTAGAAAAGATAAGACCCTTAGGAG
GCAGTGGCCACACGGTCACGGAGATGTGTGTGGGAGCCAGTCTCCAGTCC
GTGGTATGAATTAGAAAAGATAAGACCCTTAGGAGGCAGTGGCCACGCGG
TCACGGAGATGTGTGTGGGAGCCAATCTCCAGTCAGTGGTGTGGATTAGA
AAAGATAAGACCCTTAGGAGGCAGTGGCCACG
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 646471
chr17:646471 G
G
 GCGTGGCC
others(1353): Show 
GCGTGGCCACTGCCTCCTAAGGGTCTTATCTTTTCTAATCCACACCACTG
ACTGGAGATTGGCTCCCACACACATCTCCGTGACCGCGTGGCCACTGCCT
CCTAAGGGTCTTATCTTTTCTAATTCATACCACGGACTGGAGACTGGCTC
CCACACACATCTCCGTGACCGTGTGGCCACTGCCTCCTAAGGGTCTTATC
TTTTCTAATCCGTATCACGGACTGGAGACTGGCTCCCACACACATCTCCG
TGACCACGTGGCCACTGCCTCCTAAGGGTCTTATCTTTTCTAATCCATAT
CACGGACTGGAGACTGGCTCCCACACACATCTCCGTGACCGCGTGGCCAC
TGCCTCCTAAGGGTCTTATCTTTTCTAATCCGTATCACGGACTGGAGACT
GGCTCCCACACACATCTCCGTGACCGCGTGGCCACTGCCTCCTAAGGGTC
TTATCTTTTCTAATCCGTATCACGGACTGGAGACTGGCTCCCACACACAT
CTCCGTGACCGCGTGGCCACTGCCTCCTAAGGGTCTTATCTTTTCTAATC
CACACCACTGACTGGAGATCGGCTCCCACACACATCTCTGTGACCGCGTG
GCCACTGCCTCCTAAGGGTCTTATCTTTTCTAATCCACACCACTGACTGG
AGATCGGCTCCCACACACAGCTCCATGACCGCGTGGCCACTGCCTCCTAA
GGGTCTTATCTTTTCTAATCCGTATCACGGACTGGAGACTGGCTCCCACA
CACATCTCCGTGACTGCGTGGCCACTGCCTCCTAAGGGTCTTATCTTTTC
TAATCCGTATCACGGACTGGAGACTGGCTCCCACACACATCTCCGTGACC
GCGTGGCCACTGCCTCCTAAGGGTCTTATCTTTTCTAATCCGTATCACGG
ACTGGAGACTGGCTCCCACACACATCTCCGTGACCGCGTGGCCACTGCCT
CCTAAGGGTCTTATCTTTTCTAATCCGTATCACGGACTGGAGACTGGCTC
CCACACACATCTCCGTGACCGCGTGGCCACTGCCTCCTAAGGGTCTTATC
TTTTCTAATCCACACCACTGACTGGAGATCGGCTCCCACACACATCTCTG
TGACCGCGTGGCCACTGCCTCCTAAGGGTCTTATCTTTTCTAATCCACAC
CACTGACTGGAGATCGGCTCCCACACACATCTCCGTGACCGCGTGGCCAC
TGCCTCCTAAGGGTCTTATCTTTTCTAATCCGTATCACGGACTGGAGACT
GGCTCCCACACACATCTCCGTGACCGCGTGGCCACTGCCTCCTAAGGGTC
TTATCTTTTCTAATCCGTATCACGGACTGGAGACTGGCTCCCACACACAT
CTCCGTGACCA
 18 a0001c0002t0050g0049
a0002c0003t0017g0179
a0002c0003t0018g0214
others(15): Show 
a0001c0002t0050g0049
a0002c0003t0017g0179
a0002c0003t0018g0214
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0089g0175
a0002c0003t0093g0173
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0146g0170
a0002c0003t0148g0174
a0004c0008t0036g0207
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
 18 HG00323.hp2
HG00423.hp1
HG00621.hp1
others(15): Show 
HG00323.hp2
HG00423.hp1
HG00621.hp1
HG01070.hp2
HG01071.hp1
HG01167.hp1
HG02074.hp2
HG02132.hp1
HG02280.hp1
HG02738.hp2
HG03831.hp1
NA18946.hp1
NA18955.hp1
NA18957.hp2
NA18979.hp2
NA18986.hp1
NA19066.hp2
NA19090.hp2
 intron_variant MODIFIER c.608+6819_608+6820i
others(1362): Show 
c.608+6819_608+6820insTGGTCACGGAGATGTGTGTGGGAGCCAG
TCTCCAGTCCGTGATACGGATTAGAAAAGATAAGACCCTTAGGAGGCAGT
GGCCACGCGGTCACGGAGATGTGTGTGGGAGCCAGTCTCCAGTCCGTGAT
ACGGATTAGAAAAGATAAGACCCTTAGGAGGCAGTGGCCACGCGGTCACG
GAGATGTGTGTGGGAGCCGATCTCCAGTCAGTGGTGTGGATTAGAAAAGA
TAAGACCCTTAGGAGGCAGTGGCCACGCGGTCACAGAGATGTGTGTGGGA
GCCGATCTCCAGTCAGTGGTGTGGATTAGAAAAGATAAGACCCTTAGGAG
GCAGTGGCCACGCGGTCACGGAGATGTGTGTGGGAGCCAGTCTCCAGTCC
GTGATACGGATTAGAAAAGATAAGACCCTTAGGAGGCAGTGGCCACGCGG
TCACGGAGATGTGTGTGGGAGCCAGTCTCCAGTCCGTGATACGGATTAGA
AAAGATAAGACCCTTAGGAGGCAGTGGCCACGCGGTCACGGAGATGTGTG
TGGGAGCCAGTCTCCAGTCCGTGATACGGATTAGAAAAGATAAGACCCTT
AGGAGGCAGTGGCCACGCAGTCACGGAGATGTGTGTGGGAGCCAGTCTCC
AGTCCGTGATACGGATTAGAAAAGATAAGACCCTTAGGAGGCAGTGGCCA
CGCGGTCATGGAGCTGTGTGTGGGAGCCGATCTCCAGTCAGTGGTGTGGA
TTAGAAAAGATAAGACCCTTAGGAGGCAGTGGCCACGCGGTCACAGAGAT
GTGTGTGGGAGCCGATCTCCAGTCAGTGGTGTGGATTAGAAAAGATAAGA
CCCTTAGGAGGCAGTGGCCACGCGGTCACGGAGATGTGTGTGGGAGCCAG
TCTCCAGTCCGTGATACGGATTAGAAAAGATAAGACCCTTAGGAGGCAGT
GGCCACGCGGTCACGGAGATGTGTGTGGGAGCCAGTCTCCAGTCCGTGAT
ACGGATTAGAAAAGATAAGACCCTTAGGAGGCAGTGGCCACGCGGTCACG
GAGATGTGTGTGGGAGCCAGTCTCCAGTCCGTGATATGGATTAGAAAAGA
TAAGACCCTTAGGAGGCAGTGGCCACGTGGTCACGGAGATGTGTGTGGGA
GCCAGTCTCCAGTCCGTGATACGGATTAGAAAAGATAAGACCCTTAGGAG
GCAGTGGCCACACGGTCACGGAGATGTGTGTGGGAGCCAGTCTCCAGTCC
GTGGTATGAATTAGAAAAGATAAGACCCTTAGGAGGCAGTGGCCACGCGG
TCACGGAGATGTGTGTGGGAGCCAATCTCCAGTCAGTGGTGTGGATTAGA
AAAGATAAGACCCTTAGGAGGCAGTGGCCACG
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 646471
chr17:646471 G
G
 GCGTGGCC
others(1353): Show 
GCGTGGCCACTGCCTCCTAAGGGTCTTATCTTTTCTAATCCACACCACTG
ACTGGAGATTGGCTCCCACACACATCTCCGTGACCGCGTGGCCACTGCCT
CCTAAGGGTCTTATCTTTTCTAATTCATACCACGGACTGGAGACTGGCTC
CCACACACATCTCCGTGACCGTGTGGCCACTGCCTCCTAAGGGTCTTATC
TTTTCTAATCCGTATCACGGACTGGAGACTGGCTCCCACACACATCTCCG
TGACCACGTGGCCACTGCCTCCTAAGGGTCTTATCTTTTCTAATCCATAT
CACGGACTGGAGACTGGCTCCCACACACATCTCCGTGACCGCGTGGCCAC
TGCCTCCTAAGGGTCTTATCTTTTCTAATCCGTATCACGGACTGGAGACT
GGCTCCCACACACATCTCCGTGACCGCGTGGCCACTGCCTCCTAAGGGTC
TTATCTTTTCTAATCCGTATCACGGACTGGAGACTGGCTCCCACACACAT
CTCCGTGACCGCGTGGCCACTGCCTCCTAAGGGTCTTATCTTTTCTAATC
CACACCACTGACTGGAGATCGGCTCCCACACACATCTCTGTGACCGCGTG
GCCACTGCCTCCTAAGGGTCTTATCTTTTCTAATCCACACCACTGACTGG
AGATCGGCTCCCACACACAGCTCCATGACCGCGTGGCCACTGCCTCCTAA
GGGTCTTATCTTTTCTAATCCGTATCACGGACTGGAGACTGGCTCCCACA
CACATCTCCGTGACTGCGTGGCTACTGCCTCCTAAGGGTCTTATCTTTTC
TAATCCGTATCACGGACTGGAGACTGGCTCCCACACACATCTCCGTGACC
GCGTGGCCACTGCCTCCTAAGGGTCTTATCTTTTCTAATCCGTATCACGG
ACTGGAGACTGGCTCCCACACACATCTCCGTGACCGCGTGGCCACTGCCT
CCTAAGGGTCTTATCTTTTCTAATCCGTATCACGGACTGGAGACTGGCTC
CCACACACATCTCCGTGACCGCGTGGCCACTGCCTCCTAAGGGTCTTATC
TTTTCTAATCCACACCACTGACTGGAGATCGGCTCCCACACACATCTCTG
TGACCGCGTGGCCACTGCCTCCTAAGGGTCTTATCTTTTCTAATCCACAC
CACTGACTGGAGATCGGCTCCCACACACATCTCCGTGACCGCGTGGCCAC
TGCCTCCTAAGGGTCTTATCTTTTCTAATCCGTATCACGGACTGGAGACT
GGCTCCCACACACATCTCCGTGACCGCGTGGCCACTGCCTCCTAAGGGTC
TTATCTTTTCTAATCCGTATCACGGACTGGAGACTGGCTCCCACACACAT
CTCCGTGACCA
 1 a0002c0003t0139g0167
a0002c0003t0139g0167
 1 NA18983.hp1
NA18983.hp1
 intron_variant MODIFIER c.608+6819_608+6820i
others(1362): Show 
c.608+6819_608+6820insTGGTCACGGAGATGTGTGTGGGAGCCAG
TCTCCAGTCCGTGATACGGATTAGAAAAGATAAGACCCTTAGGAGGCAGT
GGCCACGCGGTCACGGAGATGTGTGTGGGAGCCAGTCTCCAGTCCGTGAT
ACGGATTAGAAAAGATAAGACCCTTAGGAGGCAGTGGCCACGCGGTCACG
GAGATGTGTGTGGGAGCCGATCTCCAGTCAGTGGTGTGGATTAGAAAAGA
TAAGACCCTTAGGAGGCAGTGGCCACGCGGTCACAGAGATGTGTGTGGGA
GCCGATCTCCAGTCAGTGGTGTGGATTAGAAAAGATAAGACCCTTAGGAG
GCAGTGGCCACGCGGTCACGGAGATGTGTGTGGGAGCCAGTCTCCAGTCC
GTGATACGGATTAGAAAAGATAAGACCCTTAGGAGGCAGTGGCCACGCGG
TCACGGAGATGTGTGTGGGAGCCAGTCTCCAGTCCGTGATACGGATTAGA
AAAGATAAGACCCTTAGGAGGCAGTGGCCACGCGGTCACGGAGATGTGTG
TGGGAGCCAGTCTCCAGTCCGTGATACGGATTAGAAAAGATAAGACCCTT
AGGAGGCAGTAGCCACGCAGTCACGGAGATGTGTGTGGGAGCCAGTCTCC
AGTCCGTGATACGGATTAGAAAAGATAAGACCCTTAGGAGGCAGTGGCCA
CGCGGTCATGGAGCTGTGTGTGGGAGCCGATCTCCAGTCAGTGGTGTGGA
TTAGAAAAGATAAGACCCTTAGGAGGCAGTGGCCACGCGGTCACAGAGAT
GTGTGTGGGAGCCGATCTCCAGTCAGTGGTGTGGATTAGAAAAGATAAGA
CCCTTAGGAGGCAGTGGCCACGCGGTCACGGAGATGTGTGTGGGAGCCAG
TCTCCAGTCCGTGATACGGATTAGAAAAGATAAGACCCTTAGGAGGCAGT
GGCCACGCGGTCACGGAGATGTGTGTGGGAGCCAGTCTCCAGTCCGTGAT
ACGGATTAGAAAAGATAAGACCCTTAGGAGGCAGTGGCCACGCGGTCACG
GAGATGTGTGTGGGAGCCAGTCTCCAGTCCGTGATATGGATTAGAAAAGA
TAAGACCCTTAGGAGGCAGTGGCCACGTGGTCACGGAGATGTGTGTGGGA
GCCAGTCTCCAGTCCGTGATACGGATTAGAAAAGATAAGACCCTTAGGAG
GCAGTGGCCACACGGTCACGGAGATGTGTGTGGGAGCCAGTCTCCAGTCC
GTGGTATGAATTAGAAAAGATAAGACCCTTAGGAGGCAGTGGCCACGCGG
TCACGGAGATGTGTGTGGGAGCCAATCTCCAGTCAGTGGTGTGGATTAGA
AAAGATAAGACCCTTAGGAGGCAGTGGCCACG
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 646471
chr17:646471 G
G
 GCGTGGCC
others(1353): Show 
GCGTGGCCACTGCCTCCTAAGGGTCTTATCTTTTCTAATCCACACCACTG
ACTGGAGATTGGCTCCCACACACATCTCCGTGACCGCGTGGCCACTGCCT
CCTAAGGGTCTTATCTTTTCTAATTCATACCACGGACTGGAGACTGGCTC
CCACACACATCTCCGTGACCGTGTGGCCACTGCCTCCTAAGGGTCTTATC
TTTTCTAATCCGTATCACGGACTGGAGACTGGCTCCCACACACATCTCCG
TGACCACGTGGCCACTGCCTCCTAAGGGTCTTATCTTTTCTAATCCATAT
CACGGACTGGAGACTGGCTCCCACACACATCTCCGTGACCGCGTGGCCAC
TGCCTCCTAAGGGTCTTATCTTTTCTAATCCGTATCACGGACTGGAGACT
GGCTCCCACACACATCTCCGTGACCGCGTGGCCACTGCCTCCTAAGGGTC
TTATCTTTTCTAATCCGTATCACGGACTGGAGACTGGCTCCCACACACAT
CTCCGTGACCGCGTGGCCACTGCCTCCTAAGGGTCTTATCTTTTCTAATC
CACACCACTGACTGGAGATCGGCTCCCACACACATCTCTGTGACCGCGTG
GCCACTGCCTCCTAAGGGTCTTATCTTTTCTAATCCACACCACTGACTGG
AGATCGGCTCCCACACACAGCTCCGTGACCGCGTGGCCACTGCCTCCTAA
GGGTCTTATCTTTTCTAATCCATATCACGGACTGGAGACTGGCTCCCACA
CACATCTCCGTGACTGCGTGGCCACTGCCTCCTAAGGGTCTTATCTTTTC
TAATCCGTATCACGGACTGGAGACTGGCTCCCACACACATCTCCGTGACC
GCGTGGCCACTGCCTCCTAAGGGTCTTATCTTTTCTAATCCGTATCACGG
ACTGGAGACTGGCTCCCACACACATCTCCGTGACCGCGTGGCCACTGCCT
CCTAAGGGTCTTATCTTTTCTAATCCGTATCACGGACTGGAGACTGGCTC
CCACACACATCTCCGTGACCGCGTGGCCACTGCCTCCTAAGGGTCTTATC
TTTTCTAATCCACACCACTGACTGGAGATCGGCTCCCACACACATCTCTG
TGACCGCGTGGCCACTGCCTCCTAAGGGTCTTATCTTTTCTAATCCACAC
CACTGACTGGAGATCGGCTCCCACACACATCTCCGTGACCGCGTGGCCAC
TGCCTCCTAAGGGTCTTATCTTTTCTAATCCGTATCACGGACTGGAGACT
GGCTCCCACACACATCTCCGTGACCGCGTGGCCACTGCCTCCTAAGGGTC
TTATCTTTTCTAATCCGTATCACGGACTGGAGACTGGCTCCCACACACAT
CTCCGTGACCA
 1 a0001c0001t0108g0148
a0001c0001t0108g0148
 1 HG01192.hp1
HG01192.hp1
 intron_variant MODIFIER c.608+6819_608+6820i
others(1362): Show 
c.608+6819_608+6820insTGGTCACGGAGATGTGTGTGGGAGCCAG
TCTCCAGTCCGTGATACGGATTAGAAAAGATAAGACCCTTAGGAGGCAGT
GGCCACGCGGTCACGGAGATGTGTGTGGGAGCCAGTCTCCAGTCCGTGAT
ACGGATTAGAAAAGATAAGACCCTTAGGAGGCAGTGGCCACGCGGTCACG
GAGATGTGTGTGGGAGCCGATCTCCAGTCAGTGGTGTGGATTAGAAAAGA
TAAGACCCTTAGGAGGCAGTGGCCACGCGGTCACAGAGATGTGTGTGGGA
GCCGATCTCCAGTCAGTGGTGTGGATTAGAAAAGATAAGACCCTTAGGAG
GCAGTGGCCACGCGGTCACGGAGATGTGTGTGGGAGCCAGTCTCCAGTCC
GTGATACGGATTAGAAAAGATAAGACCCTTAGGAGGCAGTGGCCACGCGG
TCACGGAGATGTGTGTGGGAGCCAGTCTCCAGTCCGTGATACGGATTAGA
AAAGATAAGACCCTTAGGAGGCAGTGGCCACGCGGTCACGGAGATGTGTG
TGGGAGCCAGTCTCCAGTCCGTGATACGGATTAGAAAAGATAAGACCCTT
AGGAGGCAGTGGCCACGCAGTCACGGAGATGTGTGTGGGAGCCAGTCTCC
AGTCCGTGATATGGATTAGAAAAGATAAGACCCTTAGGAGGCAGTGGCCA
CGCGGTCACGGAGCTGTGTGTGGGAGCCGATCTCCAGTCAGTGGTGTGGA
TTAGAAAAGATAAGACCCTTAGGAGGCAGTGGCCACGCGGTCACAGAGAT
GTGTGTGGGAGCCGATCTCCAGTCAGTGGTGTGGATTAGAAAAGATAAGA
CCCTTAGGAGGCAGTGGCCACGCGGTCACGGAGATGTGTGTGGGAGCCAG
TCTCCAGTCCGTGATACGGATTAGAAAAGATAAGACCCTTAGGAGGCAGT
GGCCACGCGGTCACGGAGATGTGTGTGGGAGCCAGTCTCCAGTCCGTGAT
ACGGATTAGAAAAGATAAGACCCTTAGGAGGCAGTGGCCACGCGGTCACG
GAGATGTGTGTGGGAGCCAGTCTCCAGTCCGTGATATGGATTAGAAAAGA
TAAGACCCTTAGGAGGCAGTGGCCACGTGGTCACGGAGATGTGTGTGGGA
GCCAGTCTCCAGTCCGTGATACGGATTAGAAAAGATAAGACCCTTAGGAG
GCAGTGGCCACACGGTCACGGAGATGTGTGTGGGAGCCAGTCTCCAGTCC
GTGGTATGAATTAGAAAAGATAAGACCCTTAGGAGGCAGTGGCCACGCGG
TCACGGAGATGTGTGTGGGAGCCAATCTCCAGTCAGTGGTGTGGATTAGA
AAAGATAAGACCCTTAGGAGGCAGTGGCCACG
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 646471
chr17:646471 G
G
 GCGTGGCC
others(1353): Show 
GCGTGGCCACTGCCTCCTAAGGGTCTTATCTTTTCTAATCCACACCACTG
ACTGGAGATTGGCTCCCACACACATCTCCGTGACCGCGTGGCCACTGCCT
CCTAAGGGTCTTATCTTTTCTAATTCATACCACGGACTGGAGACTGGCTC
CCACACACATCTCCGTGACCGTGTGGCCACTGCCTCCTAAGGGTCTTATC
TTTTCTAATCCGTATCACGGACTGGAGACTGGCTCCCACACACATCTCCG
TGACCACGTGGCCACTGCCTCCTAAGGGTCTTATCTTTTCTAATCCATAT
CACGGACTGGAGACTGGCTCCCACACACATCTCCGTGACCGCGTGGCCAC
TGCCTCCTAAGGGTCTTATCTTTTCTAATCCGTATCACGGACTGGAGACT
GGCTCCCACACACATCTCCGTGACCGCGTGGCCACTGCCTCCTAAGGGTC
TTATCTTTTCTAATCCGTATCACGGACTGGAGACTGGCTCCCACACACAT
CTCCGTGACCGCGTGGCCACTGCCTCCTAAGGGTCTTATCTTTTCTAATC
CACACCACTGACTGGAGATCGGCTCCCACACACATCTCTGTGACCGCGTG
GCCACTGCCTCCTAAGGGTCTTATCTTTTCTAATCCACACCACTGACTGG
AGATCGGCTCCCACACACAGCTCCGTGACCGCGTGGCCACTGCCTCCTAA
GGGTCTTATCTTTTCTAATCCGTATCACGGACTGGAGACTGGCTCCCACA
CACATCTCCGTGACTGCGTGGCCACTGCCTCCTAAGGGTCTTATCTTTTC
TAATCCGTATCACGGACTGGAGACTGGCTCCCACACACATCTCCGTGACC
GCGTGGCCACTGCCTCCTAAGGGTCTTATCTTTTCTAATCCGTATCACGG
ACTGGAGACTGGCTCCCACACACATCTCCGTGACCGCGTGGCCACTGCCT
CCTAAGGGTCTTATCTTTTCTAATCCGTATCACGGACTGGAGACTGGCTC
CCACACACATCTCCGTGACCGCGTGGCCACTGCCTCCTAAGGGTCTTATC
TTTTCTAATCCACACCACTGACTGGAGATCGGCTCCCACACACATCTCTG
TGACCGCGTGGCCACTGCCTCCTAAGGGTCTTATCTTTTCTAATCCACAC
CACTGACTGGAGATCGGCTCCCACACACATCTCCGTGACCGCGTGGCCAC
TGCCTCCTAAGGGTCTTATCTTTTCTAATCCGTATCACGGACTGGAGACT
GGCTCCCACACACATCTCCGTGACCGCGTGGCCACTGCCTCCTAAGGGTC
TTATCTTTTCTAATCCGTATCACGGACTGGAGACTGGCTCCCACACACAT
CTCCGTGACCA
 9 a0001c0001t0032g0114
a0001c0001t0033g0205
a0001c0001t0033g0206
others(6): Show 
a0001c0001t0032g0114
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0127g0159
a0007c0013t0132g0163
 9 HG01891.hp1
HG02886.hp2
HG02895.hp1
others(6): Show 
HG01891.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG03225.hp1
HG03225.hp2
HG04204.hp1
NA20129.hp1
NA20300.hp2
 intron_variant MODIFIER c.608+6819_608+6820i
others(1362): Show 
c.608+6819_608+6820insTGGTCACGGAGATGTGTGTGGGAGCCAG
TCTCCAGTCCGTGATACGGATTAGAAAAGATAAGACCCTTAGGAGGCAGT
GGCCACGCGGTCACGGAGATGTGTGTGGGAGCCAGTCTCCAGTCCGTGAT
ACGGATTAGAAAAGATAAGACCCTTAGGAGGCAGTGGCCACGCGGTCACG
GAGATGTGTGTGGGAGCCGATCTCCAGTCAGTGGTGTGGATTAGAAAAGA
TAAGACCCTTAGGAGGCAGTGGCCACGCGGTCACAGAGATGTGTGTGGGA
GCCGATCTCCAGTCAGTGGTGTGGATTAGAAAAGATAAGACCCTTAGGAG
GCAGTGGCCACGCGGTCACGGAGATGTGTGTGGGAGCCAGTCTCCAGTCC
GTGATACGGATTAGAAAAGATAAGACCCTTAGGAGGCAGTGGCCACGCGG
TCACGGAGATGTGTGTGGGAGCCAGTCTCCAGTCCGTGATACGGATTAGA
AAAGATAAGACCCTTAGGAGGCAGTGGCCACGCGGTCACGGAGATGTGTG
TGGGAGCCAGTCTCCAGTCCGTGATACGGATTAGAAAAGATAAGACCCTT
AGGAGGCAGTGGCCACGCAGTCACGGAGATGTGTGTGGGAGCCAGTCTCC
AGTCCGTGATACGGATTAGAAAAGATAAGACCCTTAGGAGGCAGTGGCCA
CGCGGTCACGGAGCTGTGTGTGGGAGCCGATCTCCAGTCAGTGGTGTGGA
TTAGAAAAGATAAGACCCTTAGGAGGCAGTGGCCACGCGGTCACAGAGAT
GTGTGTGGGAGCCGATCTCCAGTCAGTGGTGTGGATTAGAAAAGATAAGA
CCCTTAGGAGGCAGTGGCCACGCGGTCACGGAGATGTGTGTGGGAGCCAG
TCTCCAGTCCGTGATACGGATTAGAAAAGATAAGACCCTTAGGAGGCAGT
GGCCACGCGGTCACGGAGATGTGTGTGGGAGCCAGTCTCCAGTCCGTGAT
ACGGATTAGAAAAGATAAGACCCTTAGGAGGCAGTGGCCACGCGGTCACG
GAGATGTGTGTGGGAGCCAGTCTCCAGTCCGTGATATGGATTAGAAAAGA
TAAGACCCTTAGGAGGCAGTGGCCACGTGGTCACGGAGATGTGTGTGGGA
GCCAGTCTCCAGTCCGTGATACGGATTAGAAAAGATAAGACCCTTAGGAG
GCAGTGGCCACACGGTCACGGAGATGTGTGTGGGAGCCAGTCTCCAGTCC
GTGGTATGAATTAGAAAAGATAAGACCCTTAGGAGGCAGTGGCCACGCGG
TCACGGAGATGTGTGTGGGAGCCAATCTCCAGTCAGTGGTGTGGATTAGA
AAAGATAAGACCCTTAGGAGGCAGTGGCCACG
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 646471
chr17:646471 G
G
 GCGTGGCC
others(1268): Show 
GCGTGGCCACTGCCTCCTAAGGGTCTTATCTTTTCTAATCCACACCACTG
ACTGGAGATTGGCTCCCACACACATCTCCGTGACCGCGTGGCCACTGCCT
CCTAAGGGTCTTATCTTTTCTAATTCATACCACGGACTGGAGACTGGCTC
CCACACACATCTCCGTGACCGTGTGGCCACTGCCTCCTAAGGGTCTTATC
TTTTCTAATCCGTATCACGGACTGGAGACTGGCTCCCACACACATCTCCG
TGACCACGTGGCCACTGCCTCCTAAGGGTCTTATCTTTTCTAATCCATAT
CACGGACTGGAGACTGGCTCCCACACACATCTCCGTGACCGCGTGGCCAC
TGCCTCCTAAGGGTCTTATCTTTTCTAATCCGTATCACGGACTGGAGACT
GGCTCCCACACACATCTCCGTGACCGCGTGGCCACTGCCTCCTAAGGGTC
TTATCTTTTCTAATCCGTATCACGGACTGGAGACTGGCTCCCACACACAT
CTCCGTGACCGCGTGGCCACTGCCTCCTAAGGGTCTTATCTTTTCTAATC
CACACCACTGACTGGAGATCGGCTCCCACACACATCTCTGTGACCGCGTG
GCCACTGCCTCCTAAGGGTCTTATCTTTTCTAATCCACACCACTGACTGG
AGATCGGCTCCCACACACATCTCCGTGACCGCGTGGCCACTGCCTCCTAA
GGGTCTTATCTTTTCTAATCCGTATCACGGACTGGAGACTGGCTCCCACA
CACATCTCCGTGACTGCGTGGCCACTGCCTCCTAAGGGTCTTATCTTTTC
TAATCCGTATCACGGACTGGAGACTGGCTCCCACACACATCTCCGTGACC
GCGTGGCCACTGCCTCCTAAGGGTCTTATCTTTTCTAATCCGTATCACGG
ACTGGAGACTGGCTCCCACACACATCTCCGTGACCGCGTGGCCACTGCCT
CCTAAGGGTCTTATCTTTTCTAATCCACACCACTGACTGGAGATCGGCTC
CCACACACATCTCTGTGACCGCGTGGCCACTGCCTCCTAAGGGTCTTATC
TTTTCTAATCCACACCACTGACTGGAGATCGGCTCCCACACACATCTCCG
TGACCGCGTGGCCACTGCCTCCTAAGGGTCTTATCTTTTCTAATCCGTAT
CACGGACTGGAGACTGGCTCCCACACACATCTCCGTGACCGCGTGGCCAC
TGCCTCCTAAGGGTCTTATCTTTTCTAATCCGTATCACGGACTGGAGACT
GGCTCCCACACACATCTCCGTGACCA
 11 a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
others(8): Show 
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0016t0052g0099
 11 HG00099.hp2
HG00280.hp2
HG01099.hp2
others(8): Show 
HG00099.hp2
HG00280.hp2
HG01099.hp2
HG01168.hp2
HG01175.hp1
HG01515.hp2
HG01981.hp2
HG03491.hp1
HG03492.hp1
HG03688.hp1
NA18948.hp1
 intron_variant MODIFIER c.608+6819_608+6820i
others(1277): Show 
c.608+6819_608+6820insTGGTCACGGAGATGTGTGTGGGAGCCAG
TCTCCAGTCCGTGATACGGATTAGAAAAGATAAGACCCTTAGGAGGCAGT
GGCCACGCGGTCACGGAGATGTGTGTGGGAGCCAGTCTCCAGTCCGTGAT
ACGGATTAGAAAAGATAAGACCCTTAGGAGGCAGTGGCCACGCGGTCACG
GAGATGTGTGTGGGAGCCGATCTCCAGTCAGTGGTGTGGATTAGAAAAGA
TAAGACCCTTAGGAGGCAGTGGCCACGCGGTCACAGAGATGTGTGTGGGA
GCCGATCTCCAGTCAGTGGTGTGGATTAGAAAAGATAAGACCCTTAGGAG
GCAGTGGCCACGCGGTCACGGAGATGTGTGTGGGAGCCAGTCTCCAGTCC
GTGATACGGATTAGAAAAGATAAGACCCTTAGGAGGCAGTGGCCACGCGG
TCACGGAGATGTGTGTGGGAGCCAGTCTCCAGTCCGTGATACGGATTAGA
AAAGATAAGACCCTTAGGAGGCAGTGGCCACGCAGTCACGGAGATGTGTG
TGGGAGCCAGTCTCCAGTCCGTGATACGGATTAGAAAAGATAAGACCCTT
AGGAGGCAGTGGCCACGCGGTCACGGAGATGTGTGTGGGAGCCGATCTCC
AGTCAGTGGTGTGGATTAGAAAAGATAAGACCCTTAGGAGGCAGTGGCCA
CGCGGTCACAGAGATGTGTGTGGGAGCCGATCTCCAGTCAGTGGTGTGGA
TTAGAAAAGATAAGACCCTTAGGAGGCAGTGGCCACGCGGTCACGGAGAT
GTGTGTGGGAGCCAGTCTCCAGTCCGTGATACGGATTAGAAAAGATAAGA
CCCTTAGGAGGCAGTGGCCACGCGGTCACGGAGATGTGTGTGGGAGCCAG
TCTCCAGTCCGTGATACGGATTAGAAAAGATAAGACCCTTAGGAGGCAGT
GGCCACGCGGTCACGGAGATGTGTGTGGGAGCCAGTCTCCAGTCCGTGAT
ATGGATTAGAAAAGATAAGACCCTTAGGAGGCAGTGGCCACGTGGTCACG
GAGATGTGTGTGGGAGCCAGTCTCCAGTCCGTGATACGGATTAGAAAAGA
TAAGACCCTTAGGAGGCAGTGGCCACACGGTCACGGAGATGTGTGTGGGA
GCCAGTCTCCAGTCCGTGGTATGAATTAGAAAAGATAAGACCCTTAGGAG
GCAGTGGCCACGCGGTCACGGAGATGTGTGTGGGAGCCAATCTCCAGTCA
GTGGTGTGGATTAGAAAAGATAAGACCCTTAGGAGGCAGTGGCCACG
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 646471
chr17:646471 G
G
 GCGTGGCC
others(1438): Show 
GCGTGGCCACTGCCTCCTAAGGGTCTTATCTTTTCTAATCCACACCACTG
ACTGGAGATTGGCTCCCACACACATCTCCGTGACCGCGTGGCCACTGCCT
CCTAAGGGTCTTATCTTTTCTAATTCATACCACGGACTGGAGACTGGCTC
CCACACACATCTCCGTGACCGTGTGGCCACTGCCTCCTAAGGGTCTTATC
TTTTCTAATCCGTATCACGGACTGGAGACTGGCTCCCACACACATCTCCG
TGACCACGTGGCCACTGCCTCCTAAGGGTCTTATCTTTTCTAATCCGTAT
CACGGACTGGAGACTGGCTCCCACACACATCTCCGTGACCACGTGGCCAC
TGCCTCCTAAGGGTCTTATCTTTTCTAATCCATATCACGGACTGGAGACT
GGCTCCCACACACATCTCCGTGACCGCGTGGCCACTGCCTCCTAAGGGTC
TTATCTTTTCTAATCCGTATCACGGACTGGAGACTGGCTCCCACACACAT
CTCCGTGACCGCGTGGCCACTGCCTCCTAAGGGTCTTATCTTTTCTAATC
CGTATCACGGACTGGAGACTGGCTCCCACACACATCTCCGTGACCGCGTG
GCCACTGCCTCCTAAGGGTCTTATCTTTTCTAATCCACACCACTGACTGG
AGATCGGCTCCCACACACATCTCTGTGACCGCGTGGCCACTGCCTCCTAA
GGGTCTTATCTTTTCTAATCCACACCACTGACTGGAGATCGGCTCCCACA
CACAGCTCCGTGACCGCGTGGCCACTGCCTCCTAAGGGTCTTATCTTTTC
TAATCCGTATCACGGACTGGAGACTGGCTCCCACACACATCTCCGTGACT
GCGTGGCCACTGCCTCCTAAGGGTCTTATCTTTTCTAATCCGTATCACGG
ACTGGAGACTGGCTCCCACACACATCTCCGTGACCGCGTGGCCACTGCCT
CCTAAGGGTCTTATCTTTTCTAATCCGTATCACGGACTGGAGACTGGCTC
CCACACACATCTCCGTGACCGCGTGGCCACTGCCTCCTAAGGGTCTTATC
TTTTCTAATCCGTATCACGGACTGGAGACTGGCTCCCACACACATCTCCG
TGACCGCGTGGCCACTGCCTCCTAAGGGTCTTATCTTTTCTAATCCACAC
CACTGACTGGAGATCGGCTCCCACACACATCTCTGTGACCGCGTGGCCAC
TGCCTCCTAAGGGTCTTATCTTTTCTAATCCACACCACTGACTGGAGATC
GGCTCCCACACACATCTCCGTGACCGCGTGGCCACTGCCTCCTAAGGGTC
TTATCTTTTCTAATCCGTATCACGGACTGGAGACTGGCTCCCACACACAT
CTCCGTGACCGCGTGGCCACTGCCTCCTAAGGGTCTTATCTTTTCTAATC
CGTATCACGGACTGGAGACTGGCTCCCACACACATCTCCGTGACCA
 1 a0002c0010t0038g0156
a0002c0010t0038g0156
 1 NA21309.hp1
NA21309.hp1
 intron_variant MODIFIER c.608+6819_608+6820i
others(1447): Show 
c.608+6819_608+6820insTGGTCACGGAGATGTGTGTGGGAGCCAG
TCTCCAGTCCGTGATACGGATTAGAAAAGATAAGACCCTTAGGAGGCAGT
GGCCACGCGGTCACGGAGATGTGTGTGGGAGCCAGTCTCCAGTCCGTGAT
ACGGATTAGAAAAGATAAGACCCTTAGGAGGCAGTGGCCACGCGGTCACG
GAGATGTGTGTGGGAGCCGATCTCCAGTCAGTGGTGTGGATTAGAAAAGA
TAAGACCCTTAGGAGGCAGTGGCCACGCGGTCACAGAGATGTGTGTGGGA
GCCGATCTCCAGTCAGTGGTGTGGATTAGAAAAGATAAGACCCTTAGGAG
GCAGTGGCCACGCGGTCACGGAGATGTGTGTGGGAGCCAGTCTCCAGTCC
GTGATACGGATTAGAAAAGATAAGACCCTTAGGAGGCAGTGGCCACGCGG
TCACGGAGATGTGTGTGGGAGCCAGTCTCCAGTCCGTGATACGGATTAGA
AAAGATAAGACCCTTAGGAGGCAGTGGCCACGCGGTCACGGAGATGTGTG
TGGGAGCCAGTCTCCAGTCCGTGATACGGATTAGAAAAGATAAGACCCTT
AGGAGGCAGTGGCCACGCAGTCACGGAGATGTGTGTGGGAGCCAGTCTCC
AGTCCGTGATACGGATTAGAAAAGATAAGACCCTTAGGAGGCAGTGGCCA
CGCGGTCACGGAGCTGTGTGTGGGAGCCGATCTCCAGTCAGTGGTGTGGA
TTAGAAAAGATAAGACCCTTAGGAGGCAGTGGCCACGCGGTCACAGAGAT
GTGTGTGGGAGCCGATCTCCAGTCAGTGGTGTGGATTAGAAAAGATAAGA
CCCTTAGGAGGCAGTGGCCACGCGGTCACGGAGATGTGTGTGGGAGCCAG
TCTCCAGTCCGTGATACGGATTAGAAAAGATAAGACCCTTAGGAGGCAGT
GGCCACGCGGTCACGGAGATGTGTGTGGGAGCCAGTCTCCAGTCCGTGAT
ACGGATTAGAAAAGATAAGACCCTTAGGAGGCAGTGGCCACGCGGTCACG
GAGATGTGTGTGGGAGCCAGTCTCCAGTCCGTGATATGGATTAGAAAAGA
TAAGACCCTTAGGAGGCAGTGGCCACGTGGTCACGGAGATGTGTGTGGGA
GCCAGTCTCCAGTCCGTGATACGGATTAGAAAAGATAAGACCCTTAGGAG
GCAGTGGCCACGTGGTCACGGAGATGTGTGTGGGAGCCAGTCTCCAGTCC
GTGATACGGATTAGAAAAGATAAGACCCTTAGGAGGCAGTGGCCACACGG
TCACGGAGATGTGTGTGGGAGCCAGTCTCCAGTCCGTGGTATGAATTAGA
AAAGATAAGACCCTTAGGAGGCAGTGGCCACGCGGTCACGGAGATGTGTG
TGGGAGCCAATCTCCAGTCAGTGGTGTGGATTAGAAAAGATAAGACCCTT
AGGAGGCAGTGGCCACG
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 646471
chr17:646471 G
G
 GCGTGGCC
others(78): Show 
GCGTGGCCACTGCCTCCTAAGGGTCTTATCTTTTCTAATCCGTATCACGG
ACTGGAGACTGGCTCCCACACACATCTCCGTGACCA
 29 a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
others(26): Show 
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
 29 HG01257.hp2
HG01516.hp2
HG01517.hp1
others(26): Show 
HG01257.hp2
HG01516.hp2
HG01517.hp1
HG02074.hp1
HG02109.hp1
HG03831.hp2
NA18612.hp2
NA18906.hp1
NA18945.hp1
NA18950.hp2
NA18957.hp1
NA18959.hp1
NA18962.hp1
NA18977.hp1
NA18978.hp1
NA18984.hp1
NA18986.hp2
NA18990.hp1
NA18994.hp1
NA19011.hp2
NA19060.hp1
NA19064.hp1
NA19068.hp1
NA19080.hp1
NA19081.hp1
NA19087.hp2
NA19091.hp2
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.608+6819_608+6820i
others(87): Show 
c.608+6819_608+6820insTGGTCACGGAGATGTGTGTGGGAGCCAG
TCTCCAGTCCGTGATACGGATTAGAAAAGATAAGACCCTTAGGAGGCAGT
GGCCACG
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 646471
chr17:646471 G
G
 GTGTGGCC
others(1353): Show 
GTGTGGCCACTGCCTCCTAAGGGTCTTATCTTTTCTAATCCACACCACTG
ACTGGAGATTGGCTCCCACACACATCTCCGTGACCGCGTGCCCACTGCCT
CCTAAGGGTCTTATCTTTTCTAATTCATACCACGGACTGGAGACTGGCTC
CCACACACATCTCCGTGACCGTGTGGCCACTGCCTCCTAAGGGTCTTATC
TTTTCTAATCCGTATCACGGACTGGAGACTGGCTCCCACACACATCTCCG
TGACCACGTGGCCACTGCCTCCTAAGGGTCTTATCTTTTCTAATCCATAT
CACGGACTGGAGACTGGCTCCCACACACATCTCCGTGACCGCGTGGCCAC
TGCCTCCTAAGGGTCTTATCTTTTCTAATCCGTATCACGGACTGGAGACT
GGCTCCCACACACATCTCCGTGACCGCGTGGCCACTGCCTCCTAAGGGTC
TTATCTTTTCTAATCCGTATCACGGACTGGAGACTGGCTCCCACACACAT
CTCCGTGACCGCGTGGCCACTGCCTCCTAAGGGTCTTATCTTTTCTAATC
CACACCACTGACTGGAGATCGGCTCCCACACACATCTCTGTGACCGCGTG
GCCACTGCCTCCTAAGGGTCTTATCTTTTCTAATCCACACCACTGACTGG
AGATCGGCTCCCACACACAGCTCCGTGACCGCGTGGCCACTGCCTCCTAA
GGGTCTTATCTTTTCTAATCCGTATCACGGACTGGAGACTGGCTCCCACA
CACATCTCCGTGACTGCGTGGCCACTGCCTCCTAAGGGTCTTATCTTTTC
TAATCCGTATCACGGACTGGAGACTGGCTCCCACACACATCTCCGTGACC
GCGTGGCCACTGCCTCCTAAGGGTCTTATCTTTTCTAATCCGTATCACGG
ACTGGAGACTGGCTCCCACACACATCTCCGTGACCGCGTGGCCACTGCCT
CCTAAGGGTCTTATCTTTTCTAATCCGTATCACGGACTGGAGACTGGCTC
CCACACACATCTCCGTGACCGCGTGGCCACTGCCTCCTAAGGGTCTTATC
TTTTCTAATCCACACCACTGACTGGAGATCGGCTCCCACACACATCTCTG
TGACCGCGTGGCCACTGCCTCCTAAGGGTCTTATCTTTTCTAATCCACAC
CACTGACTGGAGATCGGCTCCCACACACATCTCCGTGACCGCGTGGCCAC
TGCCTCCTAAGGGTCTTATCTTTTCTAATCCGTATCACGGACTGGAGACT
GGCTCCCACACACATCTCCGTGACCGCGTGGCCACTGCCTCCTAAGGGTC
TTATCTTTTCTAATCCGTATCACGGACTGGAGACTGGCTCCCACACACAT
CTCCGTGACCA
 2 a0001c0001t0087g0198
a0001c0001t0105g0201
a0001c0001t0087g0198
a0001c0001t0105g0201
 2 HG01109.hp2
HG02818.hp1
HG01109.hp2
HG02818.hp1
 intron_variant MODIFIER c.608+6819_608+6820i
others(1362): Show 
c.608+6819_608+6820insTGGTCACGGAGATGTGTGTGGGAGCCAG
TCTCCAGTCCGTGATACGGATTAGAAAAGATAAGACCCTTAGGAGGCAGT
GGCCACGCGGTCACGGAGATGTGTGTGGGAGCCAGTCTCCAGTCCGTGAT
ACGGATTAGAAAAGATAAGACCCTTAGGAGGCAGTGGCCACGCGGTCACG
GAGATGTGTGTGGGAGCCGATCTCCAGTCAGTGGTGTGGATTAGAAAAGA
TAAGACCCTTAGGAGGCAGTGGCCACGCGGTCACAGAGATGTGTGTGGGA
GCCGATCTCCAGTCAGTGGTGTGGATTAGAAAAGATAAGACCCTTAGGAG
GCAGTGGCCACGCGGTCACGGAGATGTGTGTGGGAGCCAGTCTCCAGTCC
GTGATACGGATTAGAAAAGATAAGACCCTTAGGAGGCAGTGGCCACGCGG
TCACGGAGATGTGTGTGGGAGCCAGTCTCCAGTCCGTGATACGGATTAGA
AAAGATAAGACCCTTAGGAGGCAGTGGCCACGCGGTCACGGAGATGTGTG
TGGGAGCCAGTCTCCAGTCCGTGATACGGATTAGAAAAGATAAGACCCTT
AGGAGGCAGTGGCCACGCAGTCACGGAGATGTGTGTGGGAGCCAGTCTCC
AGTCCGTGATACGGATTAGAAAAGATAAGACCCTTAGGAGGCAGTGGCCA
CGCGGTCACGGAGCTGTGTGTGGGAGCCGATCTCCAGTCAGTGGTGTGGA
TTAGAAAAGATAAGACCCTTAGGAGGCAGTGGCCACGCGGTCACAGAGAT
GTGTGTGGGAGCCGATCTCCAGTCAGTGGTGTGGATTAGAAAAGATAAGA
CCCTTAGGAGGCAGTGGCCACGCGGTCACGGAGATGTGTGTGGGAGCCAG
TCTCCAGTCCGTGATACGGATTAGAAAAGATAAGACCCTTAGGAGGCAGT
GGCCACGCGGTCACGGAGATGTGTGTGGGAGCCAGTCTCCAGTCCGTGAT
ACGGATTAGAAAAGATAAGACCCTTAGGAGGCAGTGGCCACGCGGTCACG
GAGATGTGTGTGGGAGCCAGTCTCCAGTCCGTGATATGGATTAGAAAAGA
TAAGACCCTTAGGAGGCAGTGGCCACGTGGTCACGGAGATGTGTGTGGGA
GCCAGTCTCCAGTCCGTGATACGGATTAGAAAAGATAAGACCCTTAGGAG
GCAGTGGCCACACGGTCACGGAGATGTGTGTGGGAGCCAGTCTCCAGTCC
GTGGTATGAATTAGAAAAGATAAGACCCTTAGGAGGCAGTGGGCACGCGG
TCACGGAGATGTGTGTGGGAGCCAATCTCCAGTCAGTGGTGTGGATTAGA
AAAGATAAGACCCTTAGGAGGCAGTGGCCACA
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 646471
chr17:646488 T
T
 TAAGGGTC
others(1353): Show 
TAAGGGTCTTATCTTTTCTAATCCACACCACTGACTGGAGATTGGCTCCC
ACACACATCTCCGTGACCGCGTGGCCACTGCCTCCTAAGGGTCTTATCTT
TTCTAATTCATACCACGGACTGGAGACTGGCTCCCACACACATCTCCGTG
ACCGTGTGGCCACTGCCTCCTAAGGGTCTTATCTTTTCTAATCCGTATCA
CGGACTGGAGACTGGCTCCCACACACATCTCCGTGACCACGTGGCCACTG
CCTCCTAAGGGTCTTATCTTTTCTAATCCATATCACGGACTGGAGACTGG
CTCCCACACACATCTCCGTGACCGCGTGGCCACTGCCTCCTAAGGGTCTT
ATCTTTTCTAATCCGTATCACGGACTGGAGACTGGCTCCCACACACATCT
CCGTGACCGCGTGGCCACTGCCTCCTAAGGGTCTTATCTTTTCTAATCCG
TATCACGGACTGGAGACTGGCTCCCACACACATCTCCGTGACCGCGTGGC
CACTGCCTCCTAAGGGTCTTATCTTTTCTAATCCACACCACTGACTGGAG
ATCGGCTCCCACACACATCTCTGTGACCGCGTGGCCACTGCCTCCTAAGG
GTCTTATCTTTTCTAATCCACACCACTGACTGGAGATCGGCTCCCACACA
CAGCTCCATGACCGCGTGGCCACTGCCTCCTAAGGGTCTTATCTTTTCTA
ATCCGTATCACGGACTGGAGACTGGCTCCCACACACATCTCCGTGACTGC
GTGGCCACTGCCTCCTAAGGGTCTTATCTTTTCTAATCCGTATCACGGAC
TGGAGACTGGCTCCCACACACATCTCCGTGACCGCGTGGCCACTGCCTCC
TAAGGGTCTTATCTTTTCTAATCCGTATCACGGACTGGAGACTGGCTCCC
ACACACATCTCCGTGACCGCGTGGCCACTGCCTCCTAAGGGTCTTATCTT
TTCTAATCCGTATCACGGACTGGAGACTGGCTCCCACACACATCTCCGTG
ACCGCGTGGCCACTGCCTCCTAAGGGTCTTATCTTTTCTAATCCACACCA
CTGACTGGAGATCGGCTCCCACACACATCTCTGTGACCGCGTGGCCACTG
CCTCCTAAGGGTCTTATCTTTTCTAATCCACACCACTGACTGGAGATCGG
CTCCCACACACATCTCCGTGACCGCGTGGCCACTGCCTCCTAAGGGTCTT
ATCTTTTCTAATCCGTATCACGGACTGGAGACTGGCTCCCACACACATCT
CCGTGACCGCGTGGCCACTGCCTCCTAAGGGTCTTATCTTTTCTAATCCG
TATCACGGACTGGAGACTGGCTCCCACACACATCTCCGTGACCACGTGGC
CACTGCCTCCG
 13 a0001c0002t0017g0225
a0001c0002t0038g0224
a0001c0002t0086g0221
others(10): Show 
a0001c0002t0017g0225
a0001c0002t0038g0224
a0001c0002t0086g0221
a0001c0002t0100g0223
a0001c0002t0109g0222
a0001c0002t0125g0116
a0001c0002t0143g0226
a0001c0002t0149g0202
a0004c0008t0035g0203
a0004c0008t0103g0227
a0004c0008t0124g0229
a0004c0008t0133g0232
a0004c0008t0142g0228
 13 HG00099.hp1
HG00140.hp1
HG01346.hp1
others(10): Show 
HG00099.hp1
HG00140.hp1
HG01346.hp1
HG01516.hp1
HG02145.hp1
HG03942.hp2
HG04184.hp1
NA18944.hp2
NA18973.hp2
NA18990.hp2
NA19007.hp2
NA19011.hp1
NA19066.hp1
 intron_variant MODIFIER c.608+6802_608+6803i
others(1362): Show 
c.608+6802_608+6803insCGGAGGCAGTGGCCACGTGGTCACGGAG
ATGTGTGTGGGAGCCAGTCTCCAGTCCGTGATACGGATTAGAAAAGATAA
GACCCTTAGGAGGCAGTGGCCACGCGGTCACGGAGATGTGTGTGGGAGCC
AGTCTCCAGTCCGTGATACGGATTAGAAAAGATAAGACCCTTAGGAGGCA
GTGGCCACGCGGTCACGGAGATGTGTGTGGGAGCCGATCTCCAGTCAGTG
GTGTGGATTAGAAAAGATAAGACCCTTAGGAGGCAGTGGCCACGCGGTCA
CAGAGATGTGTGTGGGAGCCGATCTCCAGTCAGTGGTGTGGATTAGAAAA
GATAAGACCCTTAGGAGGCAGTGGCCACGCGGTCACGGAGATGTGTGTGG
GAGCCAGTCTCCAGTCCGTGATACGGATTAGAAAAGATAAGACCCTTAGG
AGGCAGTGGCCACGCGGTCACGGAGATGTGTGTGGGAGCCAGTCTCCAGT
CCGTGATACGGATTAGAAAAGATAAGACCCTTAGGAGGCAGTGGCCACGC
GGTCACGGAGATGTGTGTGGGAGCCAGTCTCCAGTCCGTGATACGGATTA
GAAAAGATAAGACCCTTAGGAGGCAGTGGCCACGCAGTCACGGAGATGTG
TGTGGGAGCCAGTCTCCAGTCCGTGATACGGATTAGAAAAGATAAGACCC
TTAGGAGGCAGTGGCCACGCGGTCATGGAGCTGTGTGTGGGAGCCGATCT
CCAGTCAGTGGTGTGGATTAGAAAAGATAAGACCCTTAGGAGGCAGTGGC
CACGCGGTCACAGAGATGTGTGTGGGAGCCGATCTCCAGTCAGTGGTGTG
GATTAGAAAAGATAAGACCCTTAGGAGGCAGTGGCCACGCGGTCACGGAG
ATGTGTGTGGGAGCCAGTCTCCAGTCCGTGATACGGATTAGAAAAGATAA
GACCCTTAGGAGGCAGTGGCCACGCGGTCACGGAGATGTGTGTGGGAGCC
AGTCTCCAGTCCGTGATACGGATTAGAAAAGATAAGACCCTTAGGAGGCA
GTGGCCACGCGGTCACGGAGATGTGTGTGGGAGCCAGTCTCCAGTCCGTG
ATATGGATTAGAAAAGATAAGACCCTTAGGAGGCAGTGGCCACGTGGTCA
CGGAGATGTGTGTGGGAGCCAGTCTCCAGTCCGTGATACGGATTAGAAAA
GATAAGACCCTTAGGAGGCAGTGGCCACACGGTCACGGAGATGTGTGTGG
GAGCCAGTCTCCAGTCCGTGGTATGAATTAGAAAAGATAAGACCCTTAGG
AGGCAGTGGCCACGCGGTCACGGAGATGTGTGTGGGAGCCAATCTCCAGT
CAGTGGTGTGGATTAGAAAAGATAAGACCCTT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 646488
chr17:646489 A
A
 G
G
 5 a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
others(2): Show 
a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0005t0080g0092
a0001c0011t0051g0091
 5 HG01074.hp2
NA18747.hp2
NA18955.hp2
others(2): Show 
HG01074.hp2
NA18747.hp2
NA18955.hp2
NA18984.hp2
NA19064.hp2
 intron_variant MODIFIER c.608+6802T>C
c.608+6802T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 646489
chr17:646512 G
G
 A
A
 3 a0001c0001t0084g0046
a0001c0001t0098g0147
a0001c0002t0035g0219
a0001c0001t0084g0046
a0001c0001t0098g0147
a0001c0002t0035g0219
 3 HG00438.hp1
HG02818.hp2
HG03516.hp1
HG00438.hp1
HG02818.hp2
HG03516.hp1
 intron_variant MODIFIER c.608+6779C>T
c.608+6779C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 646512
chr17:646513 T
T
 C
C
 3 a0001c0001t0084g0046
a0001c0001t0098g0147
a0001c0002t0035g0219
a0001c0001t0084g0046
a0001c0001t0098g0147
a0001c0002t0035g0219
 3 HG00438.hp1
HG02818.hp2
HG03516.hp1
HG00438.hp1
HG02818.hp2
HG03516.hp1
 intron_variant MODIFIER c.608+6778A>G
c.608+6778A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 646513
chr17:646515 T
T
 C
C
 3 a0001c0001t0084g0046
a0001c0001t0098g0147
a0001c0002t0035g0219
a0001c0001t0084g0046
a0001c0001t0098g0147
a0001c0002t0035g0219
 3 HG00438.hp1
HG02818.hp2
HG03516.hp1
HG00438.hp1
HG02818.hp2
HG03516.hp1
 intron_variant MODIFIER c.608+6776A>G
c.608+6776A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 646515
chr17:646519 G
G
 T
T
 3 a0001c0001t0084g0046
a0001c0001t0098g0147
a0001c0002t0035g0219
a0001c0001t0084g0046
a0001c0001t0098g0147
a0001c0002t0035g0219
 3 HG00438.hp1
HG02818.hp2
HG03516.hp1
HG00438.hp1
HG02818.hp2
HG03516.hp1
 intron_variant MODIFIER c.608+6772C>A
c.608+6772C>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 646519
chr17:646529 C
C
 T
T
 2 a0001c0001t0098g0147
a0001c0002t0035g0219
a0001c0001t0098g0147
a0001c0002t0035g0219
 2 HG00438.hp1
HG02818.hp2
HG00438.hp1
HG02818.hp2
 intron_variant MODIFIER c.608+6762G>A
c.608+6762G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 646529
chr17:646549 C
C
 CGTGACCG
others(1013): Show 
CGTGACCGCGTGGCCACTGCCTCCTAAGGGTCTTATCTTTTCTAATTCAT
ACCACGGACTGGAGACTGGCTCCCACACACATCTCCGTGACCGTGTGGCC
ACTGCCTCCTAAGGGTCTTATCTTTTCTAATCCGTATCACGGACTGGAGA
CTGGCTCCCACACACATCTCCGTGACCACGTGGCCACTGCCTCCTAAGGG
TCTTATCTTTTCTAATCCATATCACGGACTGGAGACTGGCTCCCACACAC
ATCTCCGTGACCGCGTGGCCACTGCCTCCTAAGGGTCTTATCTTTTCTAA
TCCGTATCACGGACTGGAGACTGGCTCCCACACACATCTCCGTGACCGCG
TGGCCACTGCCTCCTAAGGGTCTTATCTTTTCTAATCCGTATCACGGACT
GGAGACTGGCTCCCACACACATCTCCGTGACCGCGTGGCCACTGCCTCCT
AAGGGTCTTATCTTTTCTAATCCACACCACTGACTGGAGATCGGCTCCCA
CACACATCTCTGTGACCGCGTGGCCACTGCCTCCTAAGGGTCTTATCTTT
TCTAATCCACACCACTGACTGGAGATCGGCTCCCACACACAGCTCCATGA
CCGCGTGGCCACTGCCTCCTAAGGGTCTTATCTTTTCTAATCCGTATCAC
GGACTGGAGACTGGCTCCCACACACATCTCCGTGACTGCGTGGCCACTGC
CTCCTAAGGGTCTTATCTTTTCTAATCCGTATCACGGACTGGAGACTGGC
TCCCACACACATCTCCGTGACCGCGTGGCCACTGCCTCCTAAGGGTCTTA
TCTTTTCTAATCCGTATCACGGACTGGAGACTGGCTCCCACACACATCTC
CGTGACCGCGTGGCCACTGCCTCCTAAGGGTCTTATCTTTTCTAATCCGT
ATCACGGACTGGAGACTGGCTCCCACACACATCTCCGTGACCGCGTGGCC
ACTGCCTCCTAAGGGTCTTATCTTTTCTAATCCACACCACTGACTGGAGA
TCGGCTCCCACACACATCTCT
 1 a0001c0002t0035g0219
a0001c0002t0035g0219
 1 HG00438.hp1
HG00438.hp1
 intron_variant MODIFIER c.608+6741_608+6742i
others(1022): Show 
c.608+6741_608+6742insAGAGATGTGTGTGGGAGCCGATCTCCAG
TCAGTGGTGTGGATTAGAAAAGATAAGACCCTTAGGAGGCAGTGGCCACG
CGGTCACGGAGATGTGTGTGGGAGCCAGTCTCCAGTCCGTGATACGGATT
AGAAAAGATAAGACCCTTAGGAGGCAGTGGCCACGCGGTCACGGAGATGT
GTGTGGGAGCCAGTCTCCAGTCCGTGATACGGATTAGAAAAGATAAGACC
CTTAGGAGGCAGTGGCCACGCGGTCACGGAGATGTGTGTGGGAGCCAGTC
TCCAGTCCGTGATACGGATTAGAAAAGATAAGACCCTTAGGAGGCAGTGG
CCACGCAGTCACGGAGATGTGTGTGGGAGCCAGTCTCCAGTCCGTGATAC
GGATTAGAAAAGATAAGACCCTTAGGAGGCAGTGGCCACGCGGTCATGGA
GCTGTGTGTGGGAGCCGATCTCCAGTCAGTGGTGTGGATTAGAAAAGATA
AGACCCTTAGGAGGCAGTGGCCACGCGGTCACAGAGATGTGTGTGGGAGC
CGATCTCCAGTCAGTGGTGTGGATTAGAAAAGATAAGACCCTTAGGAGGC
AGTGGCCACGCGGTCACGGAGATGTGTGTGGGAGCCAGTCTCCAGTCCGT
GATACGGATTAGAAAAGATAAGACCCTTAGGAGGCAGTGGCCACGCGGTC
ACGGAGATGTGTGTGGGAGCCAGTCTCCAGTCCGTGATACGGATTAGAAA
AGATAAGACCCTTAGGAGGCAGTGGCCACGCGGTCACGGAGATGTGTGTG
GGAGCCAGTCTCCAGTCCGTGATATGGATTAGAAAAGATAAGACCCTTAG
GAGGCAGTGGCCACGTGGTCACGGAGATGTGTGTGGGAGCCAGTCTCCAG
TCCGTGATACGGATTAGAAAAGATAAGACCCTTAGGAGGCAGTGGCCACA
CGGTCACGGAGATGTGTGTGGGAGCCAGTCTCCAGTCCGTGGTATGAATT
AGAAAAGATAAGACCCTTAGGAGGCAGTGGCCACGCGGTCAC
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 646549
chr17:646556 G
G
 A
A
 2 a0001c0002t0078g0041
a0002c0003t0145g0187
a0001c0002t0078g0041
a0002c0003t0145g0187
 2 HG03516.hp2
HG04199.hp1
HG03516.hp2
HG04199.hp1
 intron_variant MODIFIER c.608+6735C>T
c.608+6735C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 646556
chr17:646557 C
C
 T
T
 1 a0001c0005t0019g0007
a0001c0005t0019g0007
 1 HG02602.hp1
HG02602.hp1
 intron_variant MODIFIER c.608+6734G>A
c.608+6734G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 646557
chr17:646558 A
A
 G
G
 186 a0001c0001t0017g0158
a0001c0001t0028g0196
a0001c0001t0028g0197
others(183): Show 
a0001c0001t0017g0158
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0032g0114
a0001c0001t0032g0204
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0034g0162
a0001c0001t0084g0046
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0097g0199
a0001c0001t0098g0147
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0105g0201
a0001c0001t0108g0148
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0118g0195
a0001c0001t0122g0160
a0001c0001t0127g0159
a0001c0001t0134g0154
a0001c0001t0138g0161
a0001c0001t0141g0165
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0001g0094
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0017g0225
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0035g0219
a0001c0002t0038g0224
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0050g0049
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0065g0093
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0077g0095
a0001c0002t0078g0041
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0002t0086g0221
a0001c0002t0100g0223
a0001c0002t0109g0222
a0001c0002t0125g0116
a0001c0002t0143g0226
a0001c0002t0149g0202
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0011t0051g0091
a0001c0014t0135g0166
a0001c0015t0126g0149
a0001c0016t0052g0099
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0017g0179
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0018g0231
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0073g0068
a0002c0003t0085g0184
a0002c0003t0089g0175
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0099g0192
a0002c0003t0104g0208
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0145g0187
a0002c0003t0146g0170
a0002c0003t0148g0174
a0002c0003t0150g0191
a0002c0010t0038g0156
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
a0004c0008t0035g0203
a0004c0008t0036g0207
a0004c0008t0103g0227
a0004c0008t0124g0229
a0004c0008t0133g0232
a0004c0008t0142g0228
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
a0007c0013t0132g0163
 186 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(183): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00621.hp1
HG00621.hp2
HG00741.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01192.hp1
HG01255.hp1
HG01256.hp1
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01496.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01978.hp1
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02056.hp1
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02109.hp1
HG02129.hp1
HG02132.hp1
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02280.hp1
HG02293.hp1
HG02300.hp1
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02622.hp1
HG02622.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03688.hp1
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04199.hp1
HG04204.hp1
HG04204.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18946.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp2
NA18955.hp1
NA18955.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18967.hp1
NA18973.hp1
NA18973.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18990.hp1
NA18990.hp2
NA18994.hp1
NA18994.hp2
NA19000.hp1
NA19000.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19060.hp1
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19070.hp1
NA19074.hp1
NA19079.hp1
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19087.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.608+6733T>C
c.608+6733T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 646558
chr17:646595 C
C
 T
T
 1 a0001c0001t0098g0147
a0001c0001t0098g0147
 1 HG02818.hp2
HG02818.hp2
 intron_variant MODIFIER c.608+6696G>A
c.608+6696G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 646595
chr17:646598 C
C
 T
T
 6 a0001c0001t0098g0147
a0001c0002t0001g0094
a0001c0002t0065g0093
others(3): Show 
a0001c0001t0098g0147
a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0005t0080g0092
a0001c0011t0051g0091
 6 HG01074.hp2
HG02818.hp2
NA18747.hp2
others(3): Show 
HG01074.hp2
HG02818.hp2
NA18747.hp2
NA18955.hp2
NA18984.hp2
NA19064.hp2
 intron_variant MODIFIER c.608+6693G>A
c.608+6693G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 646598
chr17:646600 C
C
 T
T
 5 a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
others(2): Show 
a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0005t0080g0092
a0001c0011t0051g0091
 5 HG01074.hp2
NA18747.hp2
NA18955.hp2
others(2): Show 
HG01074.hp2
NA18747.hp2
NA18955.hp2
NA18984.hp2
NA19064.hp2
 intron_variant MODIFIER c.608+6691G>A
c.608+6691G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 646600
chr17:646603 C
C
 CGGACTGG
others(703): Show 
CGGACTGGAGACTGGCTCCCACACACATCTCCGTGACCGTGTGGCCACTG
CCTCCTAAGGGTCTTATCTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTT
TTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGG
GATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTG
CCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGG
CTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGG
ATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAG
TGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAAGGGTCTTATCTT
TTCTAATCCACACCACTGACTGGAGATCGGCTCCCACACACATCTCTGTG
ACCGCGTGGCCACTGCCTCCTAAGGGTCTTATCTTTTCTAATCCACACCA
CTGACTGGAGATCGGCTCCCACACACATCTCCGTGACCGCGTGGCCACTG
CCTCCTAAGGGTCTTATCTTTTCTAATCCGTATCACGGACTGGAGACTGG
CTCCCACACACATCTCCGTGACCGCGTGGCCACTGCCTCCTAAGGGTCTT
ATCTTTTCTAATCCGTATCACGGACTGGAGACTGGCTCCCACACACATCT
CCGTGACCGCG
 1 a0001c0002t0077g0095
a0001c0002t0077g0095
 1 NA19064.hp2
NA19064.hp2
 intron_variant MODIFIER c.608+6687_608+6688i
others(712): Show 
c.608+6687_608+6688insCGCGGTCACGGAGATGTGTGTGGGAGCC
AGTCTCCAGTCCGTGATACGGATTAGAAAAGATAAGACCCTTAGGAGGCA
GTGGCCACGCGGTCACGGAGATGTGTGTGGGAGCCAGTCTCCAGTCCGTG
ATACGGATTAGAAAAGATAAGACCCTTAGGAGGCAGTGGCCACGCGGTCA
CGGAGATGTGTGTGGGAGCCGATCTCCAGTCAGTGGTGTGGATTAGAAAA
GATAAGACCCTTAGGAGGCAGTGGCCACGCGGTCACAGAGATGTGTGTGG
GAGCCGATCTCCAGTCAGTGGTGTGGATTAGAAAAGATAAGACCCTTGGC
CGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGC
GGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGA
AACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGG
CGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAA
CCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAG
CCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAA
AAAAAAAAAAGAAAAGATAAGACCCTTAGGAGGCAGTGGCCACACGGTCA
CGGAGATGTGTGTGGGAGCCAGTCTCCAGTCC
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 646603
chr17:646603 C
C
 CGGACTGG
others(709): Show 
CGGACTGGAGACTGGCTCCCACACACATCTCCGTGACCGTGTGGCCACTG
CCTCCTAAGGGTCTTATCTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTT
TTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAG
TGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATT
CTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTAC
GCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTA
GCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTC
CCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAAGGGTCT
TATCTTTTCTAATCCACACCACTGACTGGAGATCGGCTCCCACACACATC
TCTGTGACCGCGTGGCCACTGCCTCCTAAGGGTCTTATCTTTTCTAATCC
ACACCACTGACTGGAGATCGGCTCCCACACACATCTCCGTGACCGCGTGG
CCACTGCCTCCTAAGGGTCTTATCTTTTCTAATCCGTATCACGGACTGGA
GACTGGCTCCCACACACATCTCCGTGACCGCGTGGCCACTGCCTCCTAAG
GGTCTTATCTTTTCTAATCCGTATCACGGACTGGAGACTGGCTCCCACAC
ACATCTCCGTGACCGCG
 2 a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0001g0094
a0001c0002t0065g0093
 2 NA18747.hp2
NA18984.hp2
NA18747.hp2
NA18984.hp2
 intron_variant MODIFIER c.608+6687_608+6688i
others(718): Show 
c.608+6687_608+6688insCGCGGTCACGGAGATGTGTGTGGGAGCC
AGTCTCCAGTCCGTGATACGGATTAGAAAAGATAAGACCCTTAGGAGGCA
GTGGCCACGCGGTCACGGAGATGTGTGTGGGAGCCAGTCTCCAGTCCGTG
ATACGGATTAGAAAAGATAAGACCCTTAGGAGGCAGTGGCCACGCGGTCA
CGGAGATGTGTGTGGGAGCCGATCTCCAGTCAGTGGTGTGGATTAGAAAA
GATAAGACCCTTAGGAGGCAGTGGCCACGCGGTCACAGAGATGTGTGTGG
GAGCCGATCTCCAGTCAGTGGTGTGGATTAGAAAAGATAAGACCCTTGGC
CGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGC
GGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGA
AACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGG
CGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAA
CCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAG
CCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAA
AAAAAAAAAAAAAAAAGAAAAGATAAGACCCTTAGGAGGCAGTGGCCACA
CGGTCACGGAGATGTGTGTGGGAGCCAGTCTCCAGTCC
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 646603
chr17:646603 C
C
 CGGACTGG
others(710): Show 
CGGACTGGAGACTGGCTCCCACACACATCTCCGTGACCGTGTGGCCACTG
CCTCCTAAGGGTCTTATCTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTT
TTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCA
GTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCAT
TCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTA
CGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTT
AGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCT
CCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAAGGGTC
TTATCTTTTCTAATCCACACCACTGACTGGAGATCGGCTCCCACACACAT
CTCTGTGACCGCGTGGCCACTGCCTCCTAAGGGTCTTATCTTTTCTAATC
CACACCACTGACTGGAGATCGGCTCCCACACACATCTCCGTGACCGCGTG
GCCACTGCCTCCTAAGGGTCTTATCTTTTCTAATCCGTATCACGGACTGG
AGACTGGCTCCCACACACATCTCCGTGACCGCGTGGCCACTGCCTCCTAA
GGGTCTTATCTTTTCTAATCCGTATCACGGACTGGAGACTGGCTCCCACA
CACATCTCCGTGACCGCG
 1 a0001c0005t0080g0092
a0001c0005t0080g0092
 1 NA18955.hp2
NA18955.hp2
 intron_variant MODIFIER c.608+6687_608+6688i
others(719): Show 
c.608+6687_608+6688insCGCGGTCACGGAGATGTGTGTGGGAGCC
AGTCTCCAGTCCGTGATACGGATTAGAAAAGATAAGACCCTTAGGAGGCA
GTGGCCACGCGGTCACGGAGATGTGTGTGGGAGCCAGTCTCCAGTCCGTG
ATACGGATTAGAAAAGATAAGACCCTTAGGAGGCAGTGGCCACGCGGTCA
CGGAGATGTGTGTGGGAGCCGATCTCCAGTCAGTGGTGTGGATTAGAAAA
GATAAGACCCTTAGGAGGCAGTGGCCACGCGGTCACAGAGATGTGTGTGG
GAGCCGATCTCCAGTCAGTGGTGTGGATTAGAAAAGATAAGACCCTTGGC
CGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGC
GGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGA
AACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGG
CGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAA
CCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAG
CCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAA
AAAAAAAAAAAAAAAAAGAAAAGATAAGACCCTTAGGAGGCAGTGGCCAC
ACGGTCACGGAGATGTGTGTGGGAGCCAGTCTCCAGTCC
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 646603
chr17:646603 C
C
 CGGACTGG
others(711): Show 
CGGACTGGAGACTGGCTCCCACACACATCTCCGTGACCGTGTGGCCACTG
CCTCCTAAGGGTCTTATCTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTT
TTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGC
AGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCA
TTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACT
ACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTT
TAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCC
TCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAAGGGT
CTTATCTTTTCTAATCCACACCACTGACTGGAGATCGGCTCCCACACACA
TCTCTGTGACCGCGTGGCCACTGCCTCCTAAGGGTCTTATCTTTTCTAAT
CCACACCACTGACTGGAGATCGGCTCCCACACACATCTCCGTGACCGCGT
GGCCACTGCCTCCTAAGGGTCTTATCTTTTCTAATCCGTATCACGGACTG
GAGACTGGCTCCCACACACATCTCCGTGACCGCGTGGCCACTGCCTCCTA
AGGGTCTTATCTTTTCTAATCCGTATCACGGACTGGAGACTGGCTCCCAC
ACACATCTCCGTGACCGCG
 1 a0001c0011t0051g0091
a0001c0011t0051g0091
 1 HG01074.hp2
HG01074.hp2
 intron_variant MODIFIER c.608+6687_608+6688i
others(720): Show 
c.608+6687_608+6688insCGCGGTCACGGAGATGTGTGTGGGAGCC
AGTCTCCAGTCCGTGATACGGATTAGAAAAGATAAGACCCTTAGGAGGCA
GTGGCCACGCGGTCACGGAGATGTGTGTGGGAGCCAGTCTCCAGTCCGTG
ATACGGATTAGAAAAGATAAGACCCTTAGGAGGCAGTGGCCACGCGGTCA
CGGAGATGTGTGTGGGAGCCGATCTCCAGTCAGTGGTGTGGATTAGAAAA
GATAAGACCCTTAGGAGGCAGTGGCCACGCGGTCACAGAGATGTGTGTGG
GAGCCGATCTCCAGTCAGTGGTGTGGATTAGAAAAGATAAGACCCTTGGC
CGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGC
GGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGA
AACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGG
CGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAA
CCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAG
CCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAA
AAAAAAAAAAAAAAAAAAGAAAAGATAAGACCCTTAGGAGGCAGTGGCCA
CACGGTCACGGAGATGTGTGTGGGAGCCAGTCTCCAGTCC
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 646603
chr17:646604 T
T
 G
G
 1 a0001c0001t0098g0147
a0001c0001t0098g0147
 1 HG02818.hp2
HG02818.hp2
 intron_variant MODIFIER c.608+6687A>C
c.608+6687A>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 646604
chr17:646606 A
A
 G
G
 5 a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
others(2): Show 
a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0005t0080g0092
a0001c0011t0051g0091
 5 HG01074.hp2
NA18747.hp2
NA18955.hp2
others(2): Show 
HG01074.hp2
NA18747.hp2
NA18955.hp2
NA18984.hp2
NA19064.hp2
 intron_variant MODIFIER c.608+6685T>C
c.608+6685T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 646606
chr17:646614 T
T
 C
C
 2 a0001c0001t0098g0147
a0001c0002t0072g0071
a0001c0001t0098g0147
a0001c0002t0072g0071
 2 HG02818.hp2
NA18960.hp1
HG02818.hp2
NA18960.hp1
 intron_variant MODIFIER c.608+6677A>G
c.608+6677A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 646614
chr17:646615 C
C
 CGGCTCCC
others(248): Show 
CGGCTCCCACACACATCTCTGTGACCGCGTGGCCACTGCCTCCTAAGGGT
CTTATCTTTTCTAATCCACACCACTGACTGGAGATCGGCTCCCACACACA
TCTCCGTGACCGCGTGGCCACTGCCTCCTAAGGGTCTTATCTTTTCTAAT
CCGTATCACGGACTGGAGACTGGCTCCCACACACATCTCCGTGACCGCGT
GGCCACTGCCTCCTAAGGGTCTTATCTTTTCTAATCCGTATCACGGACTG
GAGACT
 1 a0001c0005t0019g0007
a0001c0005t0019g0007
 1 HG02602.hp1
HG02602.hp1
 intron_variant MODIFIER c.608+6675_608+6676i
others(257): Show 
c.608+6675_608+6676insAGTCTCCAGTCCGTGATACGGATTAGAA
AAGATAAGACCCTTAGGAGGCAGTGGCCACGCGGTCACGGAGATGTGTGT
GGGAGCCAGTCTCCAGTCCGTGATACGGATTAGAAAAGATAAGACCCTTA
GGAGGCAGTGGCCACGCGGTCACGGAGATGTGTGTGGGAGCCGATCTCCA
GTCAGTGGTGTGGATTAGAAAAGATAAGACCCTTAGGAGGCAGTGGCCAC
GCGGTCACAGAGATGTGTGTGGGAGCC
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 646615
chr17:646615 C
C
 T
T
 2 a0001c0001t0098g0147
a0001c0002t0072g0071
a0001c0001t0098g0147
a0001c0002t0072g0071
 2 HG02818.hp2
NA18960.hp1
HG02818.hp2
NA18960.hp1
 intron_variant MODIFIER c.608+6676G>A
c.608+6676G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 646615
chr17:646642 C
C
 T
T
 1 a0001c0001t0098g0147
a0001c0001t0098g0147
 1 HG02818.hp2
HG02818.hp2
 intron_variant MODIFIER c.608+6649G>A
c.608+6649G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 646642
chr17:646682 A
A
 G
G
 2 a0001c0001t0098g0147
a0001c0005t0019g0007
a0001c0001t0098g0147
a0001c0005t0019g0007
 2 HG02602.hp1
HG02818.hp2
HG02602.hp1
HG02818.hp2
 intron_variant MODIFIER c.608+6609T>C
c.608+6609T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 646682
chr17:646688 C
C
 T
T
 1 a0002c0003t0146g0170
a0002c0003t0146g0170
 1 NA19090.hp2
NA19090.hp2
 intron_variant MODIFIER c.608+6603G>A
c.608+6603G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 646688
chr17:646726 G
G
 A
A
 1 a0001c0001t0098g0147
a0001c0001t0098g0147
 1 HG02818.hp2
HG02818.hp2
 intron_variant MODIFIER c.608+6565C>T
c.608+6565C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 646726
chr17:646768 C
C
 T
T
 1 a0001c0001t0098g0147
a0001c0001t0098g0147
 1 HG02818.hp2
HG02818.hp2
 intron_variant MODIFIER c.608+6523G>A
c.608+6523G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 646768
chr17:646770 C
C
 T
T
 1 a0001c0001t0098g0147
a0001c0001t0098g0147
 1 HG02818.hp2
HG02818.hp2
 intron_variant MODIFIER c.608+6521G>A
c.608+6521G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 646770
chr17:646771 CACT
CACT
 C
C
 53 a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
others(50): Show 
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0016t0052g0099
a0002c0003t0073g0068
 53 HG00099.hp2
HG00140.hp2
HG00280.hp1
others(50): Show 
HG00099.hp2
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00621.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01099.hp2
HG01106.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01361.hp1
HG01496.hp1
HG01515.hp2
HG01978.hp1
HG01981.hp2
HG02135.hp1
HG02738.hp1
HG02886.hp1
HG03491.hp1
HG03492.hp1
HG03688.hp1
HG04204.hp2
NA18906.hp2
NA18940.hp1
NA18944.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18959.hp2
NA18960.hp1
NA18962.hp2
NA18967.hp1
NA18973.hp1
NA18977.hp2
NA18979.hp1
NA19007.hp1
NA19009.hp1
NA19065.hp1
NA19070.hp1
NA19079.hp1
NA19084.hp1
NA19090.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.608+6517_608+6519d
others(5): Show 
c.608+6517_608+6519delAGT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 646771
chr17:646774 T
T
 G
G
 1 a0001c0001t0098g0147
a0001c0001t0098g0147
 1 HG02818.hp2
HG02818.hp2
 intron_variant MODIFIER c.608+6517A>C
c.608+6517A>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 646774
chr17:646784 T
T
 C
C
 1 a0001c0001t0098g0147
a0001c0001t0098g0147
 1 HG02818.hp2
HG02818.hp2
 intron_variant MODIFIER c.608+6507A>G
c.608+6507A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 646784
chr17:646785 C
C
 T
T
 1 a0001c0001t0098g0147
a0001c0001t0098g0147
 1 HG02818.hp2
HG02818.hp2
 intron_variant MODIFIER c.608+6506G>A
c.608+6506G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 646785
chr17:646804 C
C
 T
T
 9 a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
others(6): Show 
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
 9 HG02135.hp2
HG02602.hp1
NA18747.hp1
others(6): Show 
HG02135.hp2
HG02602.hp1
NA18747.hp1
NA18960.hp2
NA18994.hp2
NA19000.hp2
NA19010.hp2
NA19087.hp1
NA19091.hp1
 intron_variant MODIFIER c.608+6487G>A
c.608+6487G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 646804
chr17:646810 C
C
 T
T
 48 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(45): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0032g0114
a0001c0001t0034g0126
a0001c0001t0069g0012
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0108g0148
a0001c0001t0110g0127
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0123g0123
a0001c0001t0128g0132
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0006c0012t0129g0140
 48 HG00423.hp2
HG00741.hp2
HG01081.hp2
others(45): Show 
HG00423.hp2
HG00741.hp2
HG01081.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp2
HG01361.hp2
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp2
HG01928.hp2
HG01978.hp2
HG02040.hp2
HG02056.hp2
HG02083.hp2
HG02109.hp2
HG02129.hp2
HG02132.hp2
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02602.hp2
HG02895.hp1
HG03225.hp2
HG03492.hp2
HG03688.hp2
HG04184.hp2
HG04199.hp2
NA18940.hp2
NA18945.hp2
NA18950.hp1
NA18961.hp1
NA18967.hp2
NA18978.hp2
NA18983.hp2
NA18987.hp2
NA19009.hp2
NA19060.hp2
NA19065.hp2
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19079.hp2
NA19081.hp2
NA20300.hp2
 intron_variant MODIFIER c.608+6481G>A
c.608+6481G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 646810
chr17:646852 A
A
 G
G
 1 a0001c0001t0098g0147
a0001c0001t0098g0147
 1 HG02818.hp2
HG02818.hp2
 intron_variant MODIFIER c.608+6439T>C
c.608+6439T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 646852
chr17:646869 T
T
 C
C
 1 a0001c0001t0098g0147
a0001c0001t0098g0147
 1 HG02818.hp2
HG02818.hp2
 intron_variant MODIFIER c.608+6422A>G
c.608+6422A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 646869
chr17:646870 C
C
 T
T
 1 a0001c0001t0098g0147
a0001c0001t0098g0147
 1 HG02818.hp2
HG02818.hp2
 intron_variant MODIFIER c.608+6421G>A
c.608+6421G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 646870
chr17:647381 C
C
 T
T
 12 a0001c0002t0017g0225
a0001c0002t0038g0224
a0001c0002t0100g0223
others(9): Show 
a0001c0002t0017g0225
a0001c0002t0038g0224
a0001c0002t0100g0223
a0001c0002t0109g0222
a0001c0002t0125g0116
a0001c0002t0143g0226
a0001c0002t0149g0202
a0004c0008t0035g0203
a0004c0008t0103g0227
a0004c0008t0124g0229
a0004c0008t0133g0232
a0004c0008t0142g0228
 12 HG00099.hp1
HG00140.hp1
HG01346.hp1
others(9): Show 
HG00099.hp1
HG00140.hp1
HG01346.hp1
HG01516.hp1
HG03942.hp2
HG04184.hp1
NA18944.hp2
NA18973.hp2
NA18990.hp2
NA19007.hp2
NA19011.hp1
NA19066.hp1
 intron_variant MODIFIER c.608+5910G>A
c.608+5910G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 647381
chr17:647794 G
G
 C
C
 3 a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0134g0154
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0134g0154
 3 HG01891.hp2
NA20129.hp2
NA20300.hp1
HG01891.hp2
NA20129.hp2
NA20300.hp1
 intron_variant MODIFIER c.608+5497C>G
c.608+5497C>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 647794
chr17:647924 G
G
 A
A
 1 a0001c0002t0017g0225
a0001c0002t0017g0225
 1 HG01516.hp1
HG01516.hp1
 intron_variant MODIFIER c.608+5367C>T
c.608+5367C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 647924
chr17:648038 C
C
 A
A
 1 a0001c0001t0119g0144
a0001c0001t0119g0144
 1 NA18987.hp2
NA18987.hp2
 intron_variant MODIFIER c.608+5253G>T
c.608+5253G>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 648038
chr17:648076 T
T
 C
C
 53 a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
others(50): Show 
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0016t0052g0099
a0002c0003t0073g0068
 53 HG00099.hp2
HG00140.hp2
HG00280.hp1
others(50): Show 
HG00099.hp2
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00621.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01099.hp2
HG01106.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01361.hp1
HG01496.hp1
HG01515.hp2
HG01978.hp1
HG01981.hp2
HG02135.hp1
HG02738.hp1
HG02886.hp1
HG03491.hp1
HG03492.hp1
HG03688.hp1
HG04204.hp2
NA18906.hp2
NA18940.hp1
NA18944.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18959.hp2
NA18960.hp1
NA18962.hp2
NA18967.hp1
NA18973.hp1
NA18977.hp2
NA18979.hp1
NA19007.hp1
NA19009.hp1
NA19065.hp1
NA19070.hp1
NA19079.hp1
NA19084.hp1
NA19090.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.608+5215A>G
c.608+5215A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 648076
chr17:648162 G
G
 A
A
 10 a0001c0002t0078g0041
a0001c0005t0010g0008
a0001c0005t0019g0006
others(7): Show 
a0001c0002t0078g0041
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
 10 HG02135.hp2
HG02602.hp1
HG03516.hp2
others(7): Show 
HG02135.hp2
HG02602.hp1
HG03516.hp2
NA18747.hp1
NA18960.hp2
NA18994.hp2
NA19000.hp2
NA19010.hp2
NA19087.hp1
NA19091.hp1
 intron_variant MODIFIER c.608+5129C>T
c.608+5129C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 648162
chr17:648317 A
A
 G
G
 230 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(227): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0017g0158
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0032g0114
a0001c0001t0032g0204
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0034g0126
a0001c0001t0034g0162
a0001c0001t0069g0012
a0001c0001t0084g0046
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0097g0199
a0001c0001t0098g0147
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0105g0201
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0108g0148
a0001c0001t0110g0127
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0118g0195
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0122g0160
a0001c0001t0123g0123
a0001c0001t0127g0159
a0001c0001t0128g0132
a0001c0001t0134g0154
a0001c0001t0138g0161
a0001c0001t0141g0165
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0001g0094
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0017g0225
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0035g0219
a0001c0002t0038g0224
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0050g0049
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0065g0093
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0077g0095
a0001c0002t0078g0041
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0002t0086g0221
a0001c0002t0100g0223
a0001c0002t0109g0222
a0001c0002t0125g0116
a0001c0002t0143g0226
a0001c0002t0149g0202
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0001c0011t0051g0091
a0001c0014t0135g0166
a0001c0015t0126g0149
a0001c0016t0052g0099
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0017g0179
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0018g0231
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0073g0068
a0002c0003t0085g0184
a0002c0003t0089g0175
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0099g0192
a0002c0003t0104g0208
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0145g0187
a0002c0003t0146g0170
a0002c0003t0148g0174
a0002c0003t0150g0191
a0002c0010t0038g0156
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
a0004c0008t0035g0203
a0004c0008t0036g0207
a0004c0008t0103g0227
a0004c0008t0124g0229
a0004c0008t0133g0232
a0004c0008t0142g0228
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
a0006c0012t0129g0140
a0007c0013t0132g0163
 230 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(227): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00621.hp1
HG00621.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02056.hp1
HG02056.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18955.hp1
NA18955.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18967.hp1
NA18967.hp2
NA18973.hp1
NA18973.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18990.hp1
NA18990.hp2
NA18994.hp1
NA18994.hp2
NA19000.hp1
NA19000.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19087.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.608+4974T>C
c.608+4974T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 648317
chr17:648348 G
G
 A
A
 1 a0001c0007t0012g0111
a0001c0007t0012g0111
 1 HG01978.hp2
HG01978.hp2
 intron_variant MODIFIER c.608+4943C>T
c.608+4943C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 648348
chr17:648506 G
G
 T
T
 1 a0001c0002t0078g0041
a0001c0002t0078g0041
 1 HG03516.hp2
HG03516.hp2
 intron_variant MODIFIER c.608+4785C>A
c.608+4785C>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 648506
chr17:648613 T
T
 C
C
 79 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(76): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0017g0158
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0032g0114
a0001c0001t0032g0204
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0034g0126
a0001c0001t0034g0162
a0001c0001t0069g0012
a0001c0001t0084g0046
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0097g0199
a0001c0001t0098g0147
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0105g0201
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0108g0148
a0001c0001t0110g0127
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0118g0195
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0122g0160
a0001c0001t0123g0123
a0001c0001t0127g0159
a0001c0001t0128g0132
a0001c0001t0134g0154
a0001c0001t0138g0161
a0001c0001t0141g0165
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0001c0014t0135g0166
a0001c0015t0126g0149
a0002c0010t0038g0156
a0006c0012t0129g0140
a0007c0013t0132g0163
 79 HG00423.hp2
HG00741.hp1
HG00741.hp2
others(76): Show 
HG00423.hp2
HG00741.hp1
HG00741.hp2
HG01081.hp2
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01346.hp2
HG01361.hp2
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp2
HG01978.hp2
HG02040.hp2
HG02056.hp2
HG02083.hp2
HG02109.hp2
HG02129.hp2
HG02132.hp2
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02723.hp1
HG02723.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03492.hp2
HG03516.hp1
HG03688.hp2
HG04184.hp2
HG04199.hp2
HG04204.hp1
NA18940.hp2
NA18945.hp2
NA18950.hp1
NA18961.hp1
NA18967.hp2
NA18978.hp2
NA18983.hp2
NA18987.hp2
NA19009.hp2
NA19060.hp2
NA19065.hp2
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19079.hp2
NA19081.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA21309.hp1
 intron_variant MODIFIER c.608+4678A>G
c.608+4678A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 648613
chr17:648644 A
A
 AACTGAAG
others(34): Show 
AACTGAAGATCTTACACTGGAGGACAGAGGAATGGAACAGGC
 8 a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
others(5): Show 
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0097g0199
a0001c0001t0105g0201
 8 HG01109.hp2
HG01884.hp1
HG02622.hp1
others(5): Show 
HG01109.hp2
HG01884.hp1
HG02622.hp1
HG02622.hp2
HG02723.hp2
HG02818.hp1
HG02922.hp2
HG03139.hp2
 intron_variant MODIFIER c.608+4606_608+4646d
others(43): Show 
c.608+4606_608+4646dupGCCTGTTCCATTCCTCTGTCCTCCAGTG
TAAGATCTTCAGT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 648644
chr17:648744 A
A
 G
G
 31 a0001c0002t0035g0219
a0003c0004t0003g0015
a0003c0004t0003g0018
others(28): Show 
a0001c0002t0035g0219
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
 31 HG00438.hp1
HG01257.hp2
HG01516.hp2
others(28): Show 
HG00438.hp1
HG01257.hp2
HG01516.hp2
HG01517.hp1
HG02074.hp1
HG02109.hp1
HG03831.hp2
NA18612.hp2
NA18906.hp1
NA18945.hp1
NA18950.hp2
NA18957.hp1
NA18959.hp1
NA18961.hp2
NA18962.hp1
NA18977.hp1
NA18978.hp1
NA18984.hp1
NA18986.hp2
NA18990.hp1
NA18994.hp1
NA19011.hp2
NA19060.hp1
NA19064.hp1
NA19068.hp1
NA19080.hp1
NA19081.hp1
NA19087.hp2
NA19091.hp2
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.608+4547T>C
c.608+4547T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 648744
chr17:648745 T
T
 G
G
 31 a0001c0002t0035g0219
a0003c0004t0003g0015
a0003c0004t0003g0018
others(28): Show 
a0001c0002t0035g0219
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
 31 HG00438.hp1
HG01257.hp2
HG01516.hp2
others(28): Show 
HG00438.hp1
HG01257.hp2
HG01516.hp2
HG01517.hp1
HG02074.hp1
HG02109.hp1
HG03831.hp2
NA18612.hp2
NA18906.hp1
NA18945.hp1
NA18950.hp2
NA18957.hp1
NA18959.hp1
NA18961.hp2
NA18962.hp1
NA18977.hp1
NA18978.hp1
NA18984.hp1
NA18986.hp2
NA18990.hp1
NA18994.hp1
NA19011.hp2
NA19060.hp1
NA19064.hp1
NA19068.hp1
NA19080.hp1
NA19081.hp1
NA19087.hp2
NA19091.hp2
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.608+4546A>C
c.608+4546A>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 648745
chr17:648750 C
C
 CAGAGGAA
others(34): Show 
CAGAGGAATGGAACAGGCACTGAAGATCTTACACTGGAGGAT
 10 a0001c0002t0078g0041
a0001c0005t0010g0008
a0001c0005t0019g0006
others(7): Show 
a0001c0002t0078g0041
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
 10 HG02135.hp2
HG02602.hp1
HG03516.hp2
others(7): Show 
HG02135.hp2
HG02602.hp1
HG03516.hp2
NA18747.hp1
NA18960.hp2
NA18994.hp2
NA19000.hp2
NA19010.hp2
NA19087.hp1
NA19091.hp1
 intron_variant MODIFIER c.608+4540_608+4541i
others(43): Show 
c.608+4540_608+4541insATCCTCCAGTGTAAGATCTTCAGTGCCT
GTTCCATTCCTCT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 648750
chr17:648766 G
G
 A
A
 1 a0001c0002t0066g0070
a0001c0002t0066g0070
 1 NA18946.hp2
NA18946.hp2
 intron_variant MODIFIER c.608+4525C>T
c.608+4525C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 648766
chr17:648785 G
G
 A
A
 31 a0001c0002t0035g0219
a0003c0004t0003g0015
a0003c0004t0003g0018
others(28): Show 
a0001c0002t0035g0219
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
 31 HG00438.hp1
HG01257.hp2
HG01516.hp2
others(28): Show 
HG00438.hp1
HG01257.hp2
HG01516.hp2
HG01517.hp1
HG02074.hp1
HG02109.hp1
HG03831.hp2
NA18612.hp2
NA18906.hp1
NA18945.hp1
NA18950.hp2
NA18957.hp1
NA18959.hp1
NA18961.hp2
NA18962.hp1
NA18977.hp1
NA18978.hp1
NA18984.hp1
NA18986.hp2
NA18990.hp1
NA18994.hp1
NA19011.hp2
NA19060.hp1
NA19064.hp1
NA19068.hp1
NA19080.hp1
NA19081.hp1
NA19087.hp2
NA19091.hp2
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.608+4506C>T
c.608+4506C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 648785
chr17:648802 A
A
 AACAGGTA
others(34): Show 
AACAGGTAATGAAGATCTTACACTGGAGGACAGAGGAATGGT
 4 a0002c0003t0018g0214
a0005c0009t0130g0178
a0005c0009t0137g0189
others(1): Show 
a0002c0003t0018g0214
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
 4 HG00621.hp1
NA18946.hp1
NA18955.hp1
others(1): Show 
HG00621.hp1
NA18946.hp1
NA18955.hp1
NA19066.hp2
 intron_variant MODIFIER c.608+4448_608+4488d
others(43): Show 
c.608+4448_608+4488dupACCATTCCTCTGTCCTCCAGTGTAAGAT
CTTCATTACCTGT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 648802
chr17:648808 T
T
 C
C
 102 a0001c0001t0002g0213
a0001c0001t0034g0126
a0001c0001t0114g0142
others(99): Show 
a0001c0001t0002g0213
a0001c0001t0034g0126
a0001c0001t0114g0142
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0001g0094
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0035g0219
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0065g0093
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0077g0095
a0001c0002t0078g0041
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0011t0051g0091
a0001c0016t0052g0099
a0002c0003t0073g0068
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
 102 HG00099.hp2
HG00140.hp2
HG00280.hp1
others(99): Show 
HG00099.hp2
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00438.hp1
HG00621.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01099.hp2
HG01106.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01361.hp1
HG01496.hp1
HG01515.hp2
HG01516.hp2
HG01517.hp1
HG01978.hp1
HG01981.hp2
HG02074.hp1
HG02109.hp1
HG02135.hp1
HG02135.hp2
HG02602.hp1
HG02602.hp2
HG02738.hp1
HG02886.hp1
HG03491.hp1
HG03492.hp1
HG03516.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp2
HG04204.hp2
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18944.hp1
NA18945.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp2
NA18955.hp2
NA18957.hp1
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18967.hp1
NA18973.hp1
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18979.hp1
NA18984.hp1
NA18984.hp2
NA18986.hp2
NA18990.hp1
NA18994.hp1
NA18994.hp2
NA19000.hp2
NA19007.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp2
NA19060.hp1
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19068.hp1
NA19070.hp1
NA19079.hp1
NA19080.hp1
NA19081.hp1
NA19084.hp1
NA19087.hp1
NA19087.hp2
NA19090.hp1
NA19091.hp1
NA19091.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.608+4483A>G
c.608+4483A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 648808
chr17:648810 A
A
 C
C
 3 a0001c0001t0002g0213
a0001c0001t0034g0126
a0001c0001t0114g0142
a0001c0001t0002g0213
a0001c0001t0034g0126
a0001c0001t0114g0142
 3 HG01256.hp2
HG02602.hp2
HG03688.hp2
HG01256.hp2
HG02602.hp2
HG03688.hp2
 intron_variant MODIFIER c.608+4481T>G
c.608+4481T>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 648810
chr17:648826 G
G
 A
A
 31 a0001c0002t0035g0219
a0003c0004t0003g0015
a0003c0004t0003g0018
others(28): Show 
a0001c0002t0035g0219
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
 31 HG00438.hp1
HG01257.hp2
HG01516.hp2
others(28): Show 
HG00438.hp1
HG01257.hp2
HG01516.hp2
HG01517.hp1
HG02074.hp1
HG02109.hp1
HG03831.hp2
NA18612.hp2
NA18906.hp1
NA18945.hp1
NA18950.hp2
NA18957.hp1
NA18959.hp1
NA18961.hp2
NA18962.hp1
NA18977.hp1
NA18978.hp1
NA18984.hp1
NA18986.hp2
NA18990.hp1
NA18994.hp1
NA19011.hp2
NA19060.hp1
NA19064.hp1
NA19068.hp1
NA19080.hp1
NA19081.hp1
NA19087.hp2
NA19091.hp2
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.608+4465C>T
c.608+4465C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 648826
chr17:648843 T
T
 A
A
 34 a0001c0001t0002g0213
a0001c0001t0034g0126
a0001c0001t0114g0142
others(31): Show 
a0001c0001t0002g0213
a0001c0001t0034g0126
a0001c0001t0114g0142
a0001c0002t0035g0219
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
 34 HG00438.hp1
HG01256.hp2
HG01257.hp2
others(31): Show 
HG00438.hp1
HG01256.hp2
HG01257.hp2
HG01516.hp2
HG01517.hp1
HG02074.hp1
HG02109.hp1
HG02602.hp2
HG03688.hp2
HG03831.hp2
NA18612.hp2
NA18906.hp1
NA18945.hp1
NA18950.hp2
NA18957.hp1
NA18959.hp1
NA18961.hp2
NA18962.hp1
NA18977.hp1
NA18978.hp1
NA18984.hp1
NA18986.hp2
NA18990.hp1
NA18994.hp1
NA19011.hp2
NA19060.hp1
NA19064.hp1
NA19068.hp1
NA19080.hp1
NA19081.hp1
NA19087.hp2
NA19091.hp2
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.608+4448A>T
c.608+4448A>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 648843
chr17:648851 C
C
 A
A
 31 a0001c0002t0035g0219
a0003c0004t0003g0015
a0003c0004t0003g0018
others(28): Show 
a0001c0002t0035g0219
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
 31 HG00438.hp1
HG01257.hp2
HG01516.hp2
others(28): Show 
HG00438.hp1
HG01257.hp2
HG01516.hp2
HG01517.hp1
HG02074.hp1
HG02109.hp1
HG03831.hp2
NA18612.hp2
NA18906.hp1
NA18945.hp1
NA18950.hp2
NA18957.hp1
NA18959.hp1
NA18961.hp2
NA18962.hp1
NA18977.hp1
NA18978.hp1
NA18984.hp1
NA18986.hp2
NA18990.hp1
NA18994.hp1
NA19011.hp2
NA19060.hp1
NA19064.hp1
NA19068.hp1
NA19080.hp1
NA19081.hp1
NA19087.hp2
NA19091.hp2
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.608+4440G>T
c.608+4440G>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 648851
chr17:648852 TG
TG
 T
T
 3 a0001c0001t0002g0213
a0001c0001t0034g0126
a0001c0001t0114g0142
a0001c0001t0002g0213
a0001c0001t0034g0126
a0001c0001t0114g0142
 3 HG01256.hp2
HG02602.hp2
HG03688.hp2
HG01256.hp2
HG02602.hp2
HG03688.hp2
 intron_variant MODIFIER c.608+4438delC
c.608+4438delC
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 648852
chr17:648867 G
G
 A
A
 34 a0001c0001t0002g0213
a0001c0001t0034g0126
a0001c0001t0114g0142
others(31): Show 
a0001c0001t0002g0213
a0001c0001t0034g0126
a0001c0001t0114g0142
a0001c0002t0035g0219
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
 34 HG00438.hp1
HG01256.hp2
HG01257.hp2
others(31): Show 
HG00438.hp1
HG01256.hp2
HG01257.hp2
HG01516.hp2
HG01517.hp1
HG02074.hp1
HG02109.hp1
HG02602.hp2
HG03688.hp2
HG03831.hp2
NA18612.hp2
NA18906.hp1
NA18945.hp1
NA18950.hp2
NA18957.hp1
NA18959.hp1
NA18961.hp2
NA18962.hp1
NA18977.hp1
NA18978.hp1
NA18984.hp1
NA18986.hp2
NA18990.hp1
NA18994.hp1
NA19011.hp2
NA19060.hp1
NA19064.hp1
NA19068.hp1
NA19080.hp1
NA19081.hp1
NA19087.hp2
NA19091.hp2
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.608+4424C>T
c.608+4424C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 648867
chr17:648868 G
G
 T
T
 3 a0001c0001t0002g0213
a0001c0001t0034g0126
a0001c0001t0114g0142
a0001c0001t0002g0213
a0001c0001t0034g0126
a0001c0001t0114g0142
 3 HG01256.hp2
HG02602.hp2
HG03688.hp2
HG01256.hp2
HG02602.hp2
HG03688.hp2
 intron_variant MODIFIER c.608+4423C>A
c.608+4423C>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 648868
chr17:648893 T
T
 TG
TG
 35 a0001c0001t0002g0213
a0001c0001t0034g0126
a0001c0001t0114g0142
others(32): Show 
a0001c0001t0002g0213
a0001c0001t0034g0126
a0001c0001t0114g0142
a0001c0002t0035g0219
a0001c0002t0049g0048
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
 35 HG00438.hp1
HG01256.hp2
HG01257.hp2
others(32): Show 
HG00438.hp1
HG01256.hp2
HG01257.hp2
HG01516.hp2
HG01517.hp1
HG02074.hp1
HG02109.hp1
HG02145.hp2
HG02602.hp2
HG03688.hp2
HG03831.hp2
NA18612.hp2
NA18906.hp1
NA18945.hp1
NA18950.hp2
NA18957.hp1
NA18959.hp1
NA18961.hp2
NA18962.hp1
NA18977.hp1
NA18978.hp1
NA18984.hp1
NA18986.hp2
NA18990.hp1
NA18994.hp1
NA19011.hp2
NA19060.hp1
NA19064.hp1
NA19068.hp1
NA19080.hp1
NA19081.hp1
NA19087.hp2
NA19091.hp2
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.608+4397_608+4398i
others(3): Show 
c.608+4397_608+4398insC
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 648893
chr17:648907 A
A
 G
G
 34 a0001c0001t0002g0213
a0001c0001t0034g0126
a0001c0001t0114g0142
others(31): Show 
a0001c0001t0002g0213
a0001c0001t0034g0126
a0001c0001t0114g0142
a0001c0002t0035g0219
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
 34 HG00438.hp1
HG01256.hp2
HG01257.hp2
others(31): Show 
HG00438.hp1
HG01256.hp2
HG01257.hp2
HG01516.hp2
HG01517.hp1
HG02074.hp1
HG02109.hp1
HG02602.hp2
HG03688.hp2
HG03831.hp2
NA18612.hp2
NA18906.hp1
NA18945.hp1
NA18950.hp2
NA18957.hp1
NA18959.hp1
NA18961.hp2
NA18962.hp1
NA18977.hp1
NA18978.hp1
NA18984.hp1
NA18986.hp2
NA18990.hp1
NA18994.hp1
NA19011.hp2
NA19060.hp1
NA19064.hp1
NA19068.hp1
NA19080.hp1
NA19081.hp1
NA19087.hp2
NA19091.hp2
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.608+4384T>C
c.608+4384T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 648907
chr17:648908 T
T
 G
G
 34 a0001c0001t0002g0213
a0001c0001t0034g0126
a0001c0001t0114g0142
others(31): Show 
a0001c0001t0002g0213
a0001c0001t0034g0126
a0001c0001t0114g0142
a0001c0002t0035g0219
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
 34 HG00438.hp1
HG01256.hp2
HG01257.hp2
others(31): Show 
HG00438.hp1
HG01256.hp2
HG01257.hp2
HG01516.hp2
HG01517.hp1
HG02074.hp1
HG02109.hp1
HG02602.hp2
HG03688.hp2
HG03831.hp2
NA18612.hp2
NA18906.hp1
NA18945.hp1
NA18950.hp2
NA18957.hp1
NA18959.hp1
NA18961.hp2
NA18962.hp1
NA18977.hp1
NA18978.hp1
NA18984.hp1
NA18986.hp2
NA18990.hp1
NA18994.hp1
NA19011.hp2
NA19060.hp1
NA19064.hp1
NA19068.hp1
NA19080.hp1
NA19081.hp1
NA19087.hp2
NA19091.hp2
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.608+4383A>C
c.608+4383A>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 648908
chr17:648932 C
C
 A
A
 3 a0001c0001t0002g0213
a0001c0001t0034g0126
a0001c0001t0114g0142
a0001c0001t0002g0213
a0001c0001t0034g0126
a0001c0001t0114g0142
 3 HG01256.hp2
HG02602.hp2
HG03688.hp2
HG01256.hp2
HG02602.hp2
HG03688.hp2
 intron_variant MODIFIER c.608+4359G>T
c.608+4359G>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 648932
chr17:648948 G
G
 A
A
 3 a0001c0001t0002g0213
a0001c0001t0034g0126
a0001c0001t0114g0142
a0001c0001t0002g0213
a0001c0001t0034g0126
a0001c0001t0114g0142
 3 HG01256.hp2
HG02602.hp2
HG03688.hp2
HG01256.hp2
HG02602.hp2
HG03688.hp2
 intron_variant MODIFIER c.608+4343C>T
c.608+4343C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 648948
chr17:648973 A
A
 C
C
 31 a0001c0002t0035g0219
a0003c0004t0003g0015
a0003c0004t0003g0018
others(28): Show 
a0001c0002t0035g0219
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
 31 HG00438.hp1
HG01257.hp2
HG01516.hp2
others(28): Show 
HG00438.hp1
HG01257.hp2
HG01516.hp2
HG01517.hp1
HG02074.hp1
HG02109.hp1
HG03831.hp2
NA18612.hp2
NA18906.hp1
NA18945.hp1
NA18950.hp2
NA18957.hp1
NA18959.hp1
NA18961.hp2
NA18962.hp1
NA18977.hp1
NA18978.hp1
NA18984.hp1
NA18986.hp2
NA18990.hp1
NA18994.hp1
NA19011.hp2
NA19060.hp1
NA19064.hp1
NA19068.hp1
NA19080.hp1
NA19081.hp1
NA19087.hp2
NA19091.hp2
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.608+4318T>G
c.608+4318T>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 648973
chr17:648989 A
A
 G
G
 31 a0001c0002t0035g0219
a0003c0004t0003g0015
a0003c0004t0003g0018
others(28): Show 
a0001c0002t0035g0219
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
 31 HG00438.hp1
HG01257.hp2
HG01516.hp2
others(28): Show 
HG00438.hp1
HG01257.hp2
HG01516.hp2
HG01517.hp1
HG02074.hp1
HG02109.hp1
HG03831.hp2
NA18612.hp2
NA18906.hp1
NA18945.hp1
NA18950.hp2
NA18957.hp1
NA18959.hp1
NA18961.hp2
NA18962.hp1
NA18977.hp1
NA18978.hp1
NA18984.hp1
NA18986.hp2
NA18990.hp1
NA18994.hp1
NA19011.hp2
NA19060.hp1
NA19064.hp1
NA19068.hp1
NA19080.hp1
NA19081.hp1
NA19087.hp2
NA19091.hp2
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.608+4302T>C
c.608+4302T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 648989
chr17:649003 T
T
 TG
TG
 147 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(144): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0032g0114
a0001c0001t0034g0126
a0001c0001t0069g0012
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0098g0147
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0110g0127
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0123g0123
a0001c0001t0128g0132
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0001g0094
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0035g0219
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0065g0093
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0077g0095
a0001c0002t0078g0041
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0001c0011t0051g0091
a0001c0016t0052g0099
a0002c0003t0073g0068
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
a0006c0012t0129g0140
 147 HG00099.hp2
HG00140.hp2
HG00280.hp1
others(144): Show 
HG00099.hp2
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00423.hp2
HG00438.hp1
HG00621.hp2
HG00741.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01106.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01361.hp1
HG01361.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp2
HG01928.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp2
HG02040.hp2
HG02056.hp2
HG02074.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02602.hp1
HG02602.hp2
HG02738.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG03225.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03516.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp2
HG04184.hp2
HG04199.hp2
HG04204.hp2
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18944.hp1
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18955.hp2
NA18957.hp1
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18967.hp1
NA18967.hp2
NA18973.hp1
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18986.hp2
NA18987.hp2
NA18990.hp1
NA18994.hp1
NA18994.hp2
NA19000.hp2
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19011.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19081.hp1
NA19081.hp2
NA19084.hp1
NA19087.hp1
NA19087.hp2
NA19090.hp1
NA19091.hp1
NA19091.hp2
NA20300.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.608+4287dupC
c.608+4287dupC
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 649003
chr17:649003 T
T
 TGGAACAG
others(35): Show 
TGGAACAGGCAATGAAGATCTTACACTAGAGGACAGAGGAATG
 6 a0001c0002t0017g0225
a0001c0002t0086g0221
a0001c0002t0100g0223
others(3): Show 
a0001c0002t0017g0225
a0001c0002t0086g0221
a0001c0002t0100g0223
a0001c0002t0149g0202
a0004c0008t0103g0227
a0004c0008t0124g0229
 6 HG01516.hp1
HG02145.hp1
HG03942.hp2
others(3): Show 
HG01516.hp1
HG02145.hp1
HG03942.hp2
NA18944.hp2
NA18973.hp2
NA18990.hp2
 intron_variant MODIFIER c.608+4287_608+4288i
others(44): Show 
c.608+4287_608+4288insCATTCCTCTGTCCTCTAGTGTAAGATCT
TCATTGCCTGTTCC
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 649003
chr17:649003 T
T
 TGGAACAG
others(76): Show 
TGGAACAGGCAATGAAGATCTTACACTAGAGGACAGAGGAATGGAACAGG
CACTGAAGATCTTACACTGGAGGACAGAGGAATG
 77 a0001c0001t0017g0158
a0001c0001t0028g0196
a0001c0001t0028g0197
others(74): Show 
a0001c0001t0017g0158
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0032g0204
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0034g0162
a0001c0001t0084g0046
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0097g0199
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0105g0201
a0001c0001t0108g0148
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0118g0195
a0001c0001t0122g0160
a0001c0001t0127g0159
a0001c0001t0134g0154
a0001c0001t0138g0161
a0001c0001t0141g0165
a0001c0002t0038g0224
a0001c0002t0050g0049
a0001c0002t0109g0222
a0001c0002t0125g0116
a0001c0002t0143g0226
a0001c0014t0135g0166
a0001c0015t0126g0149
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0017g0179
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0018g0231
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0085g0184
a0002c0003t0089g0175
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0099g0192
a0002c0003t0104g0208
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0145g0187
a0002c0003t0146g0170
a0002c0003t0148g0174
a0002c0003t0150g0191
a0002c0010t0038g0156
a0004c0008t0035g0203
a0004c0008t0036g0207
a0004c0008t0133g0232
a0004c0008t0142g0228
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
a0007c0013t0132g0163
 77 HG00099.hp1
HG00140.hp1
HG00323.hp2
others(74): Show 
HG00099.hp1
HG00140.hp1
HG00323.hp2
HG00423.hp1
HG00438.hp2
HG00621.hp1
HG00741.hp1
HG01070.hp2
HG01071.hp1
HG01099.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01192.hp1
HG01257.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01884.hp1
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01981.hp1
HG02040.hp1
HG02056.hp1
HG02074.hp2
HG02083.hp1
HG02129.hp1
HG02132.hp1
HG02280.hp1
HG02293.hp1
HG02300.hp1
HG02572.hp1
HG02572.hp2
HG02622.hp1
HG02622.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp2
HG02818.hp1
HG02886.hp2
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03491.hp2
HG03516.hp1
HG03831.hp1
HG03942.hp1
HG04184.hp1
HG04199.hp1
HG04204.hp1
NA18612.hp1
NA18946.hp1
NA18955.hp1
NA18957.hp2
NA18979.hp2
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA19000.hp1
NA19007.hp2
NA19010.hp1
NA19011.hp1
NA19066.hp1
NA19066.hp2
NA19074.hp1
NA19080.hp2
NA19084.hp2
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA21309.hp1
 intron_variant MODIFIER c.608+4287_608+4288i
others(85): Show 
c.608+4287_608+4288insCATTCCTCTGTCCTCCAGTGTAAGATCT
TCAGTGCCTGTTCCATTCCTCTGTCCTCTAGTGTAAGATCTTCATTGCCT
GTTCC
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 649003
chr17:649012 A
A
 G
G
 53 a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
others(50): Show 
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0016t0052g0099
a0002c0003t0073g0068
 53 HG00099.hp2
HG00140.hp2
HG00280.hp1
others(50): Show 
HG00099.hp2
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00621.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01099.hp2
HG01106.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01361.hp1
HG01496.hp1
HG01515.hp2
HG01978.hp1
HG01981.hp2
HG02135.hp1
HG02738.hp1
HG02886.hp1
HG03491.hp1
HG03492.hp1
HG03688.hp1
HG04204.hp2
NA18906.hp2
NA18940.hp1
NA18944.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18959.hp2
NA18960.hp1
NA18962.hp2
NA18967.hp1
NA18973.hp1
NA18977.hp2
NA18979.hp1
NA19007.hp1
NA19009.hp1
NA19065.hp1
NA19070.hp1
NA19079.hp1
NA19084.hp1
NA19090.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.608+4279T>C
c.608+4279T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 649012
chr17:649013 A
A
 C
C
 122 a0001c0001t0002g0213
a0001c0001t0017g0158
a0001c0001t0028g0196
others(119): Show 
a0001c0001t0002g0213
a0001c0001t0017g0158
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0032g0204
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0034g0126
a0001c0001t0034g0162
a0001c0001t0084g0046
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0097g0199
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0105g0201
a0001c0001t0108g0148
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0114g0142
a0001c0001t0118g0195
a0001c0001t0122g0160
a0001c0001t0127g0159
a0001c0001t0134g0154
a0001c0001t0138g0161
a0001c0001t0141g0165
a0001c0002t0001g0094
a0001c0002t0017g0225
a0001c0002t0035g0219
a0001c0002t0038g0224
a0001c0002t0050g0049
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0002t0086g0221
a0001c0002t0100g0223
a0001c0002t0109g0222
a0001c0002t0125g0116
a0001c0002t0143g0226
a0001c0002t0149g0202
a0001c0005t0080g0092
a0001c0011t0051g0091
a0001c0014t0135g0166
a0001c0015t0126g0149
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0017g0179
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0018g0231
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0085g0184
a0002c0003t0089g0175
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0099g0192
a0002c0003t0104g0208
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0145g0187
a0002c0003t0146g0170
a0002c0003t0148g0174
a0002c0003t0150g0191
a0002c0010t0038g0156
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
a0004c0008t0035g0203
a0004c0008t0036g0207
a0004c0008t0103g0227
a0004c0008t0124g0229
a0004c0008t0133g0232
a0004c0008t0142g0228
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
a0007c0013t0132g0163
 122 HG00099.hp1
HG00140.hp1
HG00323.hp2
others(119): Show 
HG00099.hp1
HG00140.hp1
HG00323.hp2
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00621.hp1
HG00741.hp1
HG01070.hp2
HG01071.hp1
HG01074.hp2
HG01099.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01192.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01981.hp1
HG02040.hp1
HG02056.hp1
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02109.hp1
HG02129.hp1
HG02132.hp1
HG02145.hp1
HG02280.hp1
HG02293.hp1
HG02300.hp1
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp2
HG02818.hp1
HG02886.hp2
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03491.hp2
HG03516.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04199.hp1
HG04204.hp1
NA18612.hp1
NA18612.hp2
NA18747.hp2
NA18906.hp1
NA18944.hp2
NA18945.hp1
NA18946.hp1
NA18950.hp2
NA18955.hp1
NA18955.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18961.hp2
NA18962.hp1
NA18973.hp2
NA18977.hp1
NA18978.hp1
NA18979.hp2
NA18983.hp1
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18990.hp1
NA18990.hp2
NA18994.hp1
NA19000.hp1
NA19007.hp2
NA19010.hp1
NA19011.hp1
NA19011.hp2
NA19060.hp1
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19074.hp1
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19084.hp2
NA19087.hp2
NA19090.hp2
NA19091.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20805.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.608+4278T>G
c.608+4278T>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 649013
chr17:649018 A
A
 G
G
 230 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(227): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0017g0158
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0032g0114
a0001c0001t0032g0204
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0034g0126
a0001c0001t0034g0162
a0001c0001t0069g0012
a0001c0001t0084g0046
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0097g0199
a0001c0001t0098g0147
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0105g0201
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0108g0148
a0001c0001t0110g0127
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0118g0195
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0122g0160
a0001c0001t0123g0123
a0001c0001t0127g0159
a0001c0001t0128g0132
a0001c0001t0134g0154
a0001c0001t0138g0161
a0001c0001t0141g0165
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0001g0094
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0017g0225
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0035g0219
a0001c0002t0038g0224
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0050g0049
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0065g0093
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0077g0095
a0001c0002t0078g0041
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0002t0086g0221
a0001c0002t0100g0223
a0001c0002t0109g0222
a0001c0002t0125g0116
a0001c0002t0143g0226
a0001c0002t0149g0202
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0001c0011t0051g0091
a0001c0014t0135g0166
a0001c0015t0126g0149
a0001c0016t0052g0099
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0017g0179
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0018g0231
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0073g0068
a0002c0003t0085g0184
a0002c0003t0089g0175
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0099g0192
a0002c0003t0104g0208
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0145g0187
a0002c0003t0146g0170
a0002c0003t0148g0174
a0002c0003t0150g0191
a0002c0010t0038g0156
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
a0004c0008t0035g0203
a0004c0008t0036g0207
a0004c0008t0103g0227
a0004c0008t0124g0229
a0004c0008t0133g0232
a0004c0008t0142g0228
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
a0006c0012t0129g0140
a0007c0013t0132g0163
 230 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(227): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00621.hp1
HG00621.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02056.hp1
HG02056.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18955.hp1
NA18955.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18967.hp1
NA18967.hp2
NA18973.hp1
NA18973.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18990.hp1
NA18990.hp2
NA18994.hp1
NA18994.hp2
NA19000.hp1
NA19000.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19087.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.608+4273T>C
c.608+4273T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 649018
chr17:649029 G
G
 A
A
 56 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(53): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0032g0114
a0001c0001t0069g0012
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0098g0147
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0110g0127
a0001c0001t0113g0122
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0123g0123
a0001c0001t0128g0132
a0001c0002t0049g0048
a0001c0002t0078g0041
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0006c0012t0129g0140
 56 HG00423.hp2
HG00741.hp2
HG01081.hp2
others(53): Show 
HG00423.hp2
HG00741.hp2
HG01081.hp2
HG01175.hp2
HG01192.hp2
HG01255.hp2
HG01361.hp2
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp2
HG01928.hp2
HG01978.hp2
HG02040.hp2
HG02056.hp2
HG02083.hp2
HG02109.hp2
HG02129.hp2
HG02132.hp2
HG02135.hp2
HG02145.hp2
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02602.hp1
HG02818.hp2
HG02895.hp1
HG03225.hp2
HG03492.hp2
HG03516.hp2
HG04184.hp2
HG04199.hp2
NA18747.hp1
NA18940.hp2
NA18945.hp2
NA18950.hp1
NA18960.hp2
NA18961.hp1
NA18967.hp2
NA18978.hp2
NA18983.hp2
NA18987.hp2
NA18994.hp2
NA19000.hp2
NA19009.hp2
NA19010.hp2
NA19060.hp2
NA19065.hp2
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19079.hp2
NA19081.hp2
NA19087.hp1
NA19091.hp1
NA20300.hp2
 intron_variant MODIFIER c.608+4262C>T
c.608+4262C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 649029
chr17:649040 G
G
 A
A
 38 a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
others(35): Show 
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0017g0179
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0018g0231
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0085g0184
a0002c0003t0089g0175
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0099g0192
a0002c0003t0104g0208
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0145g0187
a0002c0003t0146g0170
a0002c0003t0148g0174
a0002c0003t0150g0191
a0004c0008t0036g0207
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
 38 HG00323.hp2
HG00423.hp1
HG00438.hp2
others(35): Show 
HG00323.hp2
HG00423.hp1
HG00438.hp2
HG00621.hp1
HG01070.hp2
HG01071.hp1
HG01099.hp1
HG01167.hp1
HG01928.hp1
HG01981.hp1
HG02040.hp1
HG02056.hp1
HG02074.hp2
HG02083.hp1
HG02129.hp1
HG02132.hp1
HG02293.hp1
HG02300.hp1
HG02738.hp2
HG03491.hp2
HG03831.hp1
HG03942.hp1
HG04199.hp1
NA18612.hp1
NA18946.hp1
NA18955.hp1
NA18957.hp2
NA18979.hp2
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA19000.hp1
NA19010.hp1
NA19066.hp2
NA19074.hp1
NA19080.hp2
NA19084.hp2
NA19090.hp2
 intron_variant MODIFIER c.608+4251C>T
c.608+4251C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 649040
chr17:649071 G
G
 GAGGACAG
others(34): Show 
GAGGACAGAGGAATGGAACAGGCACCGAAGATCGTACACTGT
 1 a0003c0004t0006g0033
a0003c0004t0006g0033
 1 NA18950.hp2
NA18950.hp2
 intron_variant MODIFIER c.608+4219_608+4220i
others(43): Show 
c.608+4219_608+4220insACAGTGTACGATCTTCGGTGCCTGTTCC
ATTCCTCTGTCCT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 649071
chr17:649071 G
G
 GAGGACAG
others(34): Show 
GAGGACAGAGGAATGGAACAGGCACCGAAGATTGTACACTGT
 30 a0001c0002t0035g0219
a0003c0004t0003g0015
a0003c0004t0003g0018
others(27): Show 
a0001c0002t0035g0219
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
 30 HG00438.hp1
HG01257.hp2
HG01516.hp2
others(27): Show 
HG00438.hp1
HG01257.hp2
HG01516.hp2
HG01517.hp1
HG02074.hp1
HG02109.hp1
HG03831.hp2
NA18612.hp2
NA18906.hp1
NA18945.hp1
NA18957.hp1
NA18959.hp1
NA18961.hp2
NA18962.hp1
NA18977.hp1
NA18978.hp1
NA18984.hp1
NA18986.hp2
NA18990.hp1
NA18994.hp1
NA19011.hp2
NA19060.hp1
NA19064.hp1
NA19068.hp1
NA19080.hp1
NA19081.hp1
NA19087.hp2
NA19091.hp2
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.608+4219_608+4220i
others(43): Show 
c.608+4219_608+4220insACAGTGTACAATCTTCGGTGCCTGTTCC
ATTCCTCTGTCCT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 649071
chr17:649096 T
T
 C
C
 31 a0001c0002t0035g0219
a0003c0004t0003g0015
a0003c0004t0003g0018
others(28): Show 
a0001c0002t0035g0219
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
 31 HG00438.hp1
HG01257.hp2
HG01516.hp2
others(28): Show 
HG00438.hp1
HG01257.hp2
HG01516.hp2
HG01517.hp1
HG02074.hp1
HG02109.hp1
HG03831.hp2
NA18612.hp2
NA18906.hp1
NA18945.hp1
NA18950.hp2
NA18957.hp1
NA18959.hp1
NA18961.hp2
NA18962.hp1
NA18977.hp1
NA18978.hp1
NA18984.hp1
NA18986.hp2
NA18990.hp1
NA18994.hp1
NA19011.hp2
NA19060.hp1
NA19064.hp1
NA19068.hp1
NA19080.hp1
NA19081.hp1
NA19087.hp2
NA19091.hp2
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.608+4195A>G
c.608+4195A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 649096
chr17:649102 T
T
 G
G
 53 a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
others(50): Show 
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0016t0052g0099
a0002c0003t0073g0068
 53 HG00099.hp2
HG00140.hp2
HG00280.hp1
others(50): Show 
HG00099.hp2
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00621.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01099.hp2
HG01106.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01361.hp1
HG01496.hp1
HG01515.hp2
HG01978.hp1
HG01981.hp2
HG02135.hp1
HG02738.hp1
HG02886.hp1
HG03491.hp1
HG03492.hp1
HG03688.hp1
HG04204.hp2
NA18906.hp2
NA18940.hp1
NA18944.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18959.hp2
NA18960.hp1
NA18962.hp2
NA18967.hp1
NA18973.hp1
NA18977.hp2
NA18979.hp1
NA19007.hp1
NA19009.hp1
NA19065.hp1
NA19070.hp1
NA19079.hp1
NA19084.hp1
NA19090.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.608+4189A>C
c.608+4189A>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 649102
chr17:649112 G
G
 GAGGACAG
others(34): Show 
GAGGACAGAGGAATGGAACAGGCACCGAAGATTGTACACTGT
 1 a0001c0002t0014g0077
a0001c0002t0014g0077
 1 NA18967.hp1
NA18967.hp1
 intron_variant MODIFIER c.608+4178_608+4179i
others(43): Show 
c.608+4178_608+4179insACAGTGTACAATCTTCGGTGCCTGTTCC
ATTCCTCTGTCCT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 649112
chr17:649137 T
T
 C
C
 32 a0001c0002t0014g0077
a0001c0002t0035g0219
a0003c0004t0003g0015
others(29): Show 
a0001c0002t0014g0077
a0001c0002t0035g0219
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
 32 HG00438.hp1
HG01257.hp2
HG01516.hp2
others(29): Show 
HG00438.hp1
HG01257.hp2
HG01516.hp2
HG01517.hp1
HG02074.hp1
HG02109.hp1
HG03831.hp2
NA18612.hp2
NA18906.hp1
NA18945.hp1
NA18950.hp2
NA18957.hp1
NA18959.hp1
NA18961.hp2
NA18962.hp1
NA18967.hp1
NA18977.hp1
NA18978.hp1
NA18984.hp1
NA18986.hp2
NA18990.hp1
NA18994.hp1
NA19011.hp2
NA19060.hp1
NA19064.hp1
NA19068.hp1
NA19080.hp1
NA19081.hp1
NA19087.hp2
NA19091.hp2
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.608+4154A>G
c.608+4154A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 649137
chr17:649137 T
T
 TGAAGATC
others(75): Show 
TGAAGATCTTACACTGGAGGACAGAGGAATGGAACAGGCACCGAAGATTG
TACACTGTAGGACAGAGGAATGGAACAGGCACC
 25 a0001c0001t0017g0158
a0001c0001t0028g0196
a0001c0001t0028g0197
others(22): Show 
a0001c0001t0017g0158
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0034g0162
a0001c0001t0084g0046
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0097g0199
a0001c0001t0105g0201
a0001c0001t0108g0148
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0118g0195
a0001c0001t0122g0160
a0001c0001t0127g0159
a0001c0001t0138g0161
a0001c0001t0141g0165
a0001c0014t0135g0166
a0001c0015t0126g0149
a0002c0010t0038g0156
a0007c0013t0132g0163
 25 HG00741.hp1
HG01106.hp2
HG01109.hp1
others(22): Show 
HG00741.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01192.hp1
HG01257.hp1
HG01258.hp2
HG01346.hp2
HG01884.hp1
HG01891.hp1
HG02572.hp1
HG02622.hp1
HG02622.hp2
HG02723.hp1
HG02723.hp2
HG02818.hp1
HG02886.hp2
HG02895.hp2
HG02922.hp2
HG03139.hp2
HG03225.hp1
HG03516.hp1
HG04204.hp1
NA20129.hp1
NA21309.hp1
 intron_variant MODIFIER c.608+4153_608+4154i
others(84): Show 
c.608+4153_608+4154insGGTGCCTGTTCCATTCCTCTGTCCTACA
GTGTACAATCTTCGGTGCCTGTTCCATTCCTCTGTCCTCCAGTGTAAGAT
CTTC
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 649137
chr17:649137 T
T
 TGAAGATC
others(116): Show 
TGAAGATCTTACACTGGAGGACAGAGGAATGGAACAGGCACCGAAGATTG
TACACTGTAGGACAGAGGAATGGAACAGGCACCGAAGATCTTACACTGGA
GGACAGAGGAATGGAACAGGCACC
 2 a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0101g0200
a0001c0001t0102g0220
 2 HG02572.hp2
HG03139.hp1
HG02572.hp2
HG03139.hp1
 intron_variant MODIFIER c.608+4153_608+4154i
others(125): Show 
c.608+4153_608+4154insGGTGCCTGTTCCATTCCTCTGTCCTCCA
GTGTAAGATCTTCGGTGCCTGTTCCATTCCTCTGTCCTACAGTGTACAAT
CTTCGGTGCCTGTTCCATTCCTCTGTCCTCCAGTGTAAGATCTTC
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 649137
chr17:649137 T
T
 TGAAGATC
others(116): Show 
TGAAGATCTTACACTGGAGGACAGAGGAATGGAACAGGCACTGAAGATCT
TACACTGGAGGACAGAGGAATGGAACAGGCACCGAAGATTGTACACTGTA
GGACAGAGGAATGGAACAGGCACC
 1 a0001c0001t0114g0142
a0001c0001t0114g0142
 1 HG02602.hp2
HG02602.hp2
 intron_variant MODIFIER c.608+4153_608+4154i
others(125): Show 
c.608+4153_608+4154insGGTGCCTGTTCCATTCCTCTGTCCTACA
GTGTACAATCTTCGGTGCCTGTTCCATTCCTCTGTCCTCCAGTGTAAGAT
CTTCAGTGCCTGTTCCATTCCTCTGTCCTCCAGTGTAAGATCTTC
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 649137
chr17:649137 T
T
 TGAAGATC
others(157): Show 
TGAAGATCTTACACTGGAGGACAGAGGAATGGAACAGGCACTGAAGATCT
TACACTGGAGGACAGAGGAATGGAACAGGCACCGAAGATTGTACACTGTA
GGACAGAGGAATGGAACAGGCACCGAAGATCTTACACTGGAGGACAGAGG
AATGGAACAGGCACC
 2 a0001c0001t0002g0213
a0001c0001t0034g0126
a0001c0001t0002g0213
a0001c0001t0034g0126
 2 HG01256.hp2
HG03688.hp2
HG01256.hp2
HG03688.hp2
 intron_variant MODIFIER c.608+4153_608+4154i
others(166): Show 
c.608+4153_608+4154insGGTGCCTGTTCCATTCCTCTGTCCTCCA
GTGTAAGATCTTCGGTGCCTGTTCCATTCCTCTGTCCTACAGTGTACAAT
CTTCGGTGCCTGTTCCATTCCTCTGTCCTCCAGTGTAAGATCTTCAGTGC
CTGTTCCATTCCTCTGTCCTCCAGTGTAAGATCTTC
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 649137
chr17:649137 T
T
 TGAAGATC
others(198): Show 
TGAAGATCTTACACTGGAGGACAGAGGAATGGAACAGGCACTGAAGATCT
TACACTGGAGGACAGAGGAATGGAACAGGCACTGAAGATCTTACACTGGA
GGACAGAGGAATGGAACAGGCACCGAAGATCGTACACTGTAGGACAGAGG
AATGGAACAGGCACCGAAGATCTTACACTGGAGGACAGAGGAATGGAACA
GGCACC
 1 a0001c0001t0106g0117
a0001c0001t0106g0117
 1 HG02109.hp2
HG02109.hp2
 intron_variant MODIFIER c.608+4153_608+4154i
others(207): Show 
c.608+4153_608+4154insGGTGCCTGTTCCATTCCTCTGTCCTCCA
GTGTAAGATCTTCGGTGCCTGTTCCATTCCTCTGTCCTACAGTGTACGAT
CTTCGGTGCCTGTTCCATTCCTCTGTCCTCCAGTGTAAGATCTTCAGTGC
CTGTTCCATTCCTCTGTCCTCCAGTGTAAGATCTTCAGTGCCTGTTCCAT
TCCTCTGTCCTCCAGTGTAAGATCTTC
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 649137
chr17:649137 T
T
 TGAAGATC
others(157): Show 
TGAAGATCTTACACTGGAGGACAGAGGAATGGAACAGGCACTGAAGATCT
TACACTGGAGGACAGAGGAATGGAACAGGCACTGAAGATCTTACACTGGA
GGACAGAGGAATGGAACAGGCACCGAAGATTGTACACTGTAGGACAGAGG
AATGGAACAGGCACC
 4 a0001c0001t0032g0114
a0001c0001t0096g0146
a0001c0001t0098g0147
others(1): Show 
a0001c0001t0032g0114
a0001c0001t0096g0146
a0001c0001t0098g0147
a0001c0002t0001g0056
 4 HG01167.hp2
HG02818.hp2
HG02895.hp1
others(1): Show 
HG01167.hp2
HG02818.hp2
HG02895.hp1
HG03225.hp2
 intron_variant MODIFIER c.608+4153_608+4154i
others(166): Show 
c.608+4153_608+4154insGGTGCCTGTTCCATTCCTCTGTCCTACA
GTGTACAATCTTCGGTGCCTGTTCCATTCCTCTGTCCTCCAGTGTAAGAT
CTTCAGTGCCTGTTCCATTCCTCTGTCCTCCAGTGTAAGATCTTCAGTGC
CTGTTCCATTCCTCTGTCCTCCAGTGTAAGATCTTC
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 649137
chr17:649137 T
T
 TGAAGATC
others(198): Show 
TGAAGATCTTACACTGGAGGACAGAGGAATGGAACAGGCACTGAAGATCT
TACACTGGAGGACAGAGGAATGGAACAGGCACTGAAGATCTTACACTGGA
GGACAGAGGAATGGAACAGGCACCGAAGATTGTACACTGTAGGACAGAGG
AATGGAACAGGCACCGAAGATCTTACACTGGAGGACAGAGGAATGGAACA
GGCACC
 40 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(37): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0094g0129
a0001c0001t0107g0212
a0001c0001t0110g0127
a0001c0001t0113g0122
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0123g0123
a0001c0001t0128g0132
a0001c0002t0049g0048
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0006c0012t0129g0140
 40 HG00423.hp2
HG00741.hp2
HG01081.hp2
others(37): Show 
HG00423.hp2
HG00741.hp2
HG01081.hp2
HG01175.hp2
HG01192.hp2
HG01255.hp2
HG01361.hp2
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp2
HG01928.hp2
HG01978.hp2
HG02040.hp2
HG02056.hp2
HG02083.hp2
HG02129.hp2
HG02132.hp2
HG02145.hp2
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG03492.hp2
HG04184.hp2
HG04199.hp2
NA18940.hp2
NA18945.hp2
NA18950.hp1
NA18961.hp1
NA18967.hp2
NA18978.hp2
NA18983.hp2
NA18987.hp2
NA19009.hp2
NA19060.hp2
NA19065.hp2
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19081.hp2
 intron_variant MODIFIER c.608+4153_608+4154i
others(207): Show 
c.608+4153_608+4154insGGTGCCTGTTCCATTCCTCTGTCCTCCA
GTGTAAGATCTTCGGTGCCTGTTCCATTCCTCTGTCCTACAGTGTACAAT
CTTCGGTGCCTGTTCCATTCCTCTGTCCTCCAGTGTAAGATCTTCAGTGC
CTGTTCCATTCCTCTGTCCTCCAGTGTAAGATCTTCAGTGCCTGTTCCAT
TCCTCTGTCCTCCAGTGTAAGATCTTC
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 649137
chr17:649137 T
T
 TGAAGATC
others(157): Show 
TGAAGATCTTACACTGGAGGACAGAGGAATGGAACAGGCACTGAAGATCT
TACACTGGAGGACAGAGGAATGGAACAGGCACTGAAGATCTTACACTGGA
GGACAGAGGAATGGAACAGGCACCTAAGATTGTACACTGTAGGACAGAGG
AATGGAACAGGCACC
 1 a0001c0001t0095g0145
a0001c0001t0095g0145
 1 NA20300.hp2
NA20300.hp2
 intron_variant MODIFIER c.608+4153_608+4154i
others(166): Show 
c.608+4153_608+4154insGGTGCCTGTTCCATTCCTCTGTCCTACA
GTGTACAATCTTAGGTGCCTGTTCCATTCCTCTGTCCTCCAGTGTAAGAT
CTTCAGTGCCTGTTCCATTCCTCTGTCCTCCAGTGTAAGATCTTCAGTGC
CTGTTCCATTCCTCTGTCCTCCAGTGTAAGATCTTC
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 649137
chr17:649137 T
T
 TGAAGATC
others(157): Show 
TGAAGATCTTACACTGGAGGACAGAGGAATGGAACAGGCACTGAAGATCT
TACACTGGAGGACAGAGGAATGGAACAGGCACTGAAGATCTTACACTGGA
GGACAGAGGAATGGAACAGGCACTGAAGATTGTACACTGGAGGACAGAGG
AATGGAACAGGCACC
 1 a0001c0005t0044g0096
a0001c0005t0044g0096
 1 NA18960.hp2
NA18960.hp2
 intron_variant MODIFIER c.608+4153_608+4154i
others(166): Show 
c.608+4153_608+4154insGGTGCCTGTTCCATTCCTCTGTCCTCCA
GTGTACAATCTTCAGTGCCTGTTCCATTCCTCTGTCCTCCAGTGTAAGAT
CTTCAGTGCCTGTTCCATTCCTCTGTCCTCCAGTGTAAGATCTTCAGTGC
CTGTTCCATTCCTCTGTCCTCCAGTGTAAGATCTTC
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 649137
chr17:649137 T
T
 TGAAGATC
others(198): Show 
TGAAGATCTTACACTGGAGGACAGAGGAATGGAACAGGCACTGAAGATCT
TACACTGGAGGACAGAGGAATGGAACAGGCACTGAAGATCTTACACTGGA
GGACAGAGGAATGGAACAGGCACTGAAGATTGTACACTGGAGGACAGAGG
AATGGAACAGGCACCGAAGATCTTACACTGGAGGACAGAGGAATGGAACA
GGCACC
 9 a0001c0002t0078g0041
a0001c0005t0010g0008
a0001c0005t0019g0006
others(6): Show 
a0001c0002t0078g0041
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0045g0009
a0001c0005t0046g0011
 9 HG02135.hp2
HG02602.hp1
HG03516.hp2
others(6): Show 
HG02135.hp2
HG02602.hp1
HG03516.hp2
NA18747.hp1
NA18994.hp2
NA19000.hp2
NA19010.hp2
NA19087.hp1
NA19091.hp1
 intron_variant MODIFIER c.608+4153_608+4154i
others(207): Show 
c.608+4153_608+4154insGGTGCCTGTTCCATTCCTCTGTCCTCCA
GTGTAAGATCTTCGGTGCCTGTTCCATTCCTCTGTCCTCCAGTGTACAAT
CTTCAGTGCCTGTTCCATTCCTCTGTCCTCCAGTGTAAGATCTTCAGTGC
CTGTTCCATTCCTCTGTCCTCCAGTGTAAGATCTTCAGTGCCTGTTCCAT
TCCTCTGTCCTCCAGTGTAAGATCTTC
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 649137
chr17:649137 T
T
 TGAAGATC
others(198): Show 
TGAAGATCTTACACTGGAGGACAGAGGAATGGAACAGGCACTGAAGATCT
TACACTGGAGGACAGAGGAATGGAACAGGCACTGAAGATCTTACACTGGA
GGACAGAGGAATGGAACAGGCACTGAAGATTGTACACTGTAGGACAGAGG
AATGGAACAGGCACCGAAGATCTTACACTGGAGGACAGAGGAATGGAACA
GGCACC
 5 a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
others(2): Show 
a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0005t0080g0092
a0001c0011t0051g0091
 5 HG01074.hp2
NA18747.hp2
NA18955.hp2
others(2): Show 
HG01074.hp2
NA18747.hp2
NA18955.hp2
NA18984.hp2
NA19064.hp2
 intron_variant MODIFIER c.608+4153_608+4154i
others(207): Show 
c.608+4153_608+4154insGGTGCCTGTTCCATTCCTCTGTCCTCCA
GTGTAAGATCTTCGGTGCCTGTTCCATTCCTCTGTCCTACAGTGTACAAT
CTTCAGTGCCTGTTCCATTCCTCTGTCCTCCAGTGTAAGATCTTCAGTGC
CTGTTCCATTCCTCTGTCCTCCAGTGTAAGATCTTCAGTGCCTGTTCCAT
TCCTCTGTCCTCCAGTGTAAGATCTTC
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 649137
chr17:649137 T
T
 TGAAGATC
others(116): Show 
TGAAGATCTTACACTGGAGGACAGAGGAATGGAACAGGCACTGAAGATCT
TACACTGGAGGACAGAGGAATGGAAGAGGCACCGAAGATTGTACACTGTA
GGACAGAGGAATGGAACAGGCACC
 6 a0001c0002t0017g0225
a0001c0002t0086g0221
a0001c0002t0100g0223
others(3): Show 
a0001c0002t0017g0225
a0001c0002t0086g0221
a0001c0002t0100g0223
a0001c0002t0149g0202
a0004c0008t0103g0227
a0004c0008t0124g0229
 6 HG01516.hp1
HG02145.hp1
HG03942.hp2
others(3): Show 
HG01516.hp1
HG02145.hp1
HG03942.hp2
NA18944.hp2
NA18973.hp2
NA18990.hp2
 intron_variant MODIFIER c.608+4153_608+4154i
others(125): Show 
c.608+4153_608+4154insGGTGCCTGTTCCATTCCTCTGTCCTACA
GTGTACAATCTTCGGTGCCTCTTCCATTCCTCTGTCCTCCAGTGTAAGAT
CTTCAGTGCCTGTTCCATTCCTCTGTCCTCCAGTGTAAGATCTTC
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 649137
chr17:649137 T
T
 TGAAGATC
others(75): Show 
TGAAGATCTTACACTGGAGGACAGAGGAATGGAAGAGGCACCGAAGATTG
TACACTGTAGGACAGAGGAATGGAACAGGCACC
 8 a0001c0002t0038g0224
a0001c0002t0050g0049
a0001c0002t0109g0222
others(5): Show 
a0001c0002t0038g0224
a0001c0002t0050g0049
a0001c0002t0109g0222
a0001c0002t0125g0116
a0001c0002t0143g0226
a0004c0008t0035g0203
a0004c0008t0133g0232
a0004c0008t0142g0228
 8 HG00099.hp1
HG00140.hp1
HG01346.hp1
others(5): Show 
HG00099.hp1
HG00140.hp1
HG01346.hp1
HG02280.hp1
HG04184.hp1
NA19007.hp2
NA19011.hp1
NA19066.hp1
 intron_variant MODIFIER c.608+4153_608+4154i
others(84): Show 
c.608+4153_608+4154insGGTGCCTGTTCCATTCCTCTGTCCTACA
GTGTACAATCTTCGGTGCCTCTTCCATTCCTCTGTCCTCCAGTGTAAGAT
CTTC
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 649137
chr17:649153 G
G
 GAGGACAG
others(34): Show 
GAGGACAGAGGAATGGAACAGGCACCGAAGATTGTACACTGT
 1 a0001c0001t0032g0204
a0001c0001t0032g0204
 1 HG02922.hp1
HG02922.hp1
 intron_variant MODIFIER c.608+4137_608+4138i
others(43): Show 
c.608+4137_608+4138insACAGTGTACAATCTTCGGTGCCTGTTCC
ATTCCTCTGTCCT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 649153
chr17:649153 G
G
 GAGGACAG
others(116): Show 
GAGGACAGAGGAATGGAACAGGCACTGAAGATCTTACACTGGAGGACAGA
GGAATGGAACAGGCACTGAAGATCTTACACTGGAGGACAGAGGAATGGAA
CAGGCACCGAAGATTGTACACTGT
 50 a0001c0002t0001g0045
a0001c0002t0001g0066
a0001c0002t0001g0079
others(47): Show 
a0001c0002t0001g0045
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0016t0052g0099
a0002c0003t0073g0068
 50 HG00099.hp2
HG00140.hp2
HG00280.hp1
others(47): Show 
HG00099.hp2
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00621.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01106.hp1
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01361.hp1
HG01496.hp1
HG01515.hp2
HG01978.hp1
HG01981.hp2
HG02135.hp1
HG02738.hp1
HG02886.hp1
HG03491.hp1
HG03492.hp1
HG03688.hp1
HG04204.hp2
NA18906.hp2
NA18940.hp1
NA18944.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18959.hp2
NA18960.hp1
NA18962.hp2
NA18973.hp1
NA18977.hp2
NA18979.hp1
NA19007.hp1
NA19009.hp1
NA19065.hp1
NA19070.hp1
NA19079.hp1
NA19084.hp1
NA19090.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.608+4137_608+4138i
others(125): Show 
c.608+4137_608+4138insACAGTGTACAATCTTCGGTGCCTGTTCC
ATTCCTCTGTCCTCCAGTGTAAGATCTTCAGTGCCTGTTCCATTCCTCTG
TCCTCCAGTGTAAGATCTTCAGTGCCTGTTCCATTCCTCTGTCCT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 649153
chr17:649153 G
G
 GAGGACAG
others(34): Show 
GAGGACAGAGGAATGGAAGAGGCACCGAAGATTGTACACTGT
 38 a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
others(35): Show 
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0017g0179
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0018g0231
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0085g0184
a0002c0003t0089g0175
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0099g0192
a0002c0003t0104g0208
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0145g0187
a0002c0003t0146g0170
a0002c0003t0148g0174
a0002c0003t0150g0191
a0004c0008t0036g0207
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
 38 HG00323.hp2
HG00423.hp1
HG00438.hp2
others(35): Show 
HG00323.hp2
HG00423.hp1
HG00438.hp2
HG00621.hp1
HG01070.hp2
HG01071.hp1
HG01099.hp1
HG01167.hp1
HG01928.hp1
HG01981.hp1
HG02040.hp1
HG02056.hp1
HG02074.hp2
HG02083.hp1
HG02129.hp1
HG02132.hp1
HG02293.hp1
HG02300.hp1
HG02738.hp2
HG03491.hp2
HG03831.hp1
HG03942.hp1
HG04199.hp1
NA18612.hp1
NA18946.hp1
NA18955.hp1
NA18957.hp2
NA18979.hp2
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA19000.hp1
NA19010.hp1
NA19066.hp2
NA19074.hp1
NA19080.hp2
NA19084.hp2
NA19090.hp2
 intron_variant MODIFIER c.608+4137_608+4138i
others(43): Show 
c.608+4137_608+4138insACAGTGTACAATCTTCGGTGCCTCTTCC
ATTCCTCTGTCCT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 649153
chr17:649178 C
C
 CGAAGATT
others(116): Show 
CGAAGATTGTACACTGTAGGACAGAGGAATGGAACAGGCACCGAAGATCT
TACACTGGAGGACAGAGGAATGGAACAGGCACCGAAGATCTTACACTGGA
GGACAGAGGAATGGAACAGGCACT
 3 a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0134g0154
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0134g0154
 3 HG01891.hp2
NA20129.hp2
NA20300.hp1
HG01891.hp2
NA20129.hp2
NA20300.hp1
 intron_variant MODIFIER c.608+4112_608+4113i
others(125): Show 
c.608+4112_608+4113insAGTGCCTGTTCCATTCCTCTGTCCTCCA
GTGTAAGATCTTCGGTGCCTGTTCCATTCCTCTGTCCTCCAGTGTAAGAT
CTTCGGTGCCTGTTCCATTCCTCTGTCCTACAGTGTACAATCTTC
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 649178
chr17:649178 C
C
 T
T
 2 a0001c0001t0069g0012
a0001c0006t0074g0097
a0001c0001t0069g0012
a0001c0006t0074g0097
 2 HG01099.hp2
NA19079.hp2
HG01099.hp2
NA19079.hp2
 intron_variant MODIFIER c.608+4113G>A
c.608+4113G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 649178
chr17:649194 G
G
 GAGGACAG
others(75): Show 
GAGGACAGAGGAATGGAACAGGCACTGAAGATCTTACACTGGAGGACAGA
GGAATGGAACAGGCACCGAAGATTGTACACTGT
 1 a0001c0006t0074g0097
a0001c0006t0074g0097
 1 HG01099.hp2
HG01099.hp2
 intron_variant MODIFIER c.608+4096_608+4097i
others(84): Show 
c.608+4096_608+4097insACAGTGTACAATCTTCGGTGCCTGTTCC
ATTCCTCTGTCCTCCAGTGTAAGATCTTCAGTGCCTGTTCCATTCCTCTG
TCCT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 649194
chr17:649219 C
C
 T
T
 1 a0001c0001t0069g0012
a0001c0001t0069g0012
 1 NA19079.hp2
NA19079.hp2
 intron_variant MODIFIER c.608+4072G>A
c.608+4072G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 649219
chr17:649234 A
A
 G
G
 137 a0001c0001t0017g0158
a0001c0001t0028g0196
a0001c0001t0028g0197
others(134): Show 
a0001c0001t0017g0158
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0032g0114
a0001c0001t0032g0204
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0034g0162
a0001c0001t0069g0012
a0001c0001t0084g0046
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0097g0199
a0001c0001t0098g0147
a0001c0001t0105g0201
a0001c0001t0108g0148
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0114g0142
a0001c0001t0118g0195
a0001c0001t0122g0160
a0001c0001t0127g0159
a0001c0001t0138g0161
a0001c0001t0141g0165
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0017g0225
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0038g0224
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0050g0049
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0002t0086g0221
a0001c0002t0100g0223
a0001c0002t0109g0222
a0001c0002t0125g0116
a0001c0002t0143g0226
a0001c0002t0149g0202
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0014t0135g0166
a0001c0015t0126g0149
a0001c0016t0052g0099
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0017g0179
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0018g0231
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0073g0068
a0002c0003t0085g0184
a0002c0003t0089g0175
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0099g0192
a0002c0003t0104g0208
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0145g0187
a0002c0003t0146g0170
a0002c0003t0148g0174
a0002c0003t0150g0191
a0002c0010t0038g0156
a0004c0008t0035g0203
a0004c0008t0036g0207
a0004c0008t0103g0227
a0004c0008t0124g0229
a0004c0008t0133g0232
a0004c0008t0142g0228
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
a0007c0013t0132g0163
 137 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(134): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00438.hp2
HG00621.hp1
HG00621.hp2
HG00741.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01192.hp1
HG01255.hp1
HG01256.hp1
HG01257.hp1
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01496.hp1
HG01515.hp2
HG01516.hp1
HG01884.hp1
HG01891.hp1
HG01928.hp1
HG01978.hp1
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02056.hp1
HG02074.hp2
HG02083.hp1
HG02129.hp1
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02280.hp1
HG02293.hp1
HG02300.hp1
HG02572.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03516.hp1
HG03688.hp1
HG03831.hp1
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04199.hp1
HG04204.hp1
HG04204.hp2
NA18612.hp1
NA18906.hp2
NA18940.hp1
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18955.hp1
NA18957.hp2
NA18959.hp2
NA18960.hp1
NA18962.hp2
NA18967.hp1
NA18973.hp1
NA18973.hp2
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA18990.hp2
NA19000.hp1
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19010.hp1
NA19011.hp1
NA19065.hp1
NA19066.hp1
NA19066.hp2
NA19070.hp1
NA19074.hp1
NA19079.hp1
NA19079.hp2
NA19080.hp2
NA19084.hp1
NA19084.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
NA20300.hp2
NA20805.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.608+4057T>C
c.608+4057T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 649234
chr17:649235 G
G
 GAGGACAG
others(75): Show 
GAGGACAGAGGAATGGAACAGGCACCGAAGATCTTACACTGGAGGACAGA
GGAATGGAACAGGCACCGAAGATCTTACACTAT
 35 a0001c0001t0032g0204
a0002c0003t0008g0180
a0002c0003t0008g0182
others(32): Show 
a0001c0001t0032g0204
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0017g0179
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0018g0231
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0036g0176
a0002c0003t0085g0184
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0099g0192
a0002c0003t0104g0208
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0145g0187
a0002c0003t0148g0174
a0002c0003t0150g0191
a0004c0008t0036g0207
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
 35 HG00323.hp2
HG00423.hp1
HG00438.hp2
others(32): Show 
HG00323.hp2
HG00423.hp1
HG00438.hp2
HG00621.hp1
HG01070.hp2
HG01071.hp1
HG01099.hp1
HG01167.hp1
HG01928.hp1
HG01981.hp1
HG02040.hp1
HG02056.hp1
HG02083.hp1
HG02129.hp1
HG02293.hp1
HG02300.hp1
HG02738.hp2
HG02922.hp1
HG03491.hp2
HG03831.hp1
HG03942.hp1
HG04199.hp1
NA18612.hp1
NA18946.hp1
NA18955.hp1
NA18957.hp2
NA18979.hp2
NA18983.hp1
NA18987.hp1
NA19000.hp1
NA19010.hp1
NA19066.hp2
NA19074.hp1
NA19080.hp2
NA19084.hp2
 intron_variant MODIFIER c.608+4055_608+4056i
others(84): Show 
c.608+4055_608+4056insATAGTGTAAGATCTTCGGTGCCTGTTCC
ATTCCTCTGTCCTCCAGTGTAAGATCTTCGGTGCCTGTTCCATTCCTCTG
TCCT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 649235
chr17:649235 G
G
 T
T
 94 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(91): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0034g0126
a0001c0001t0094g0129
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0110g0127
a0001c0001t0113g0122
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0123g0123
a0001c0001t0128g0132
a0001c0001t0134g0154
a0001c0002t0001g0094
a0001c0002t0035g0219
a0001c0002t0049g0048
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0002t0078g0041
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0001c0011t0051g0091
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
a0006c0012t0129g0140
 94 HG00423.hp2
HG00438.hp1
HG00741.hp2
others(91): Show 
HG00423.hp2
HG00438.hp1
HG00741.hp2
HG01074.hp2
HG01081.hp2
HG01175.hp2
HG01192.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp2
HG01361.hp2
HG01496.hp2
HG01515.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp2
HG01891.hp2
HG01928.hp2
HG01978.hp2
HG02040.hp2
HG02056.hp2
HG02074.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02132.hp2
HG02135.hp2
HG02145.hp2
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02572.hp2
HG02602.hp1
HG03139.hp1
HG03492.hp2
HG03516.hp2
HG03688.hp2
HG03831.hp2
HG04184.hp2
HG04199.hp2
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18940.hp2
NA18945.hp1
NA18945.hp2
NA18950.hp1
NA18950.hp2
NA18955.hp2
NA18957.hp1
NA18959.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18967.hp2
NA18977.hp1
NA18978.hp1
NA18978.hp2
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18986.hp2
NA18987.hp2
NA18990.hp1
NA18994.hp1
NA18994.hp2
NA19000.hp2
NA19009.hp2
NA19010.hp2
NA19011.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19080.hp1
NA19081.hp1
NA19081.hp2
NA19087.hp1
NA19087.hp2
NA19091.hp1
NA19091.hp2
NA20129.hp2
NA20300.hp1
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.608+4056C>A
c.608+4056C>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 649235
chr17:649267 C
C
 T
T
 1 a0001c0001t0069g0012
a0001c0001t0069g0012
 1 NA19079.hp2
NA19079.hp2
 intron_variant MODIFIER c.608+4024G>A
c.608+4024G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 649267
chr17:649268 T
T
 G
G
 1 a0001c0001t0069g0012
a0001c0001t0069g0012
 1 NA19079.hp2
NA19079.hp2
 intron_variant MODIFIER c.608+4023A>C
c.608+4023A>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 649268
chr17:649275 G
G
 A
A
 44 a0001c0001t0017g0158
a0001c0001t0028g0196
a0001c0001t0028g0197
others(41): Show 
a0001c0001t0017g0158
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0034g0162
a0001c0001t0084g0046
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0097g0199
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0105g0201
a0001c0001t0108g0148
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0114g0142
a0001c0001t0118g0195
a0001c0001t0122g0160
a0001c0001t0127g0159
a0001c0001t0138g0161
a0001c0001t0141g0165
a0001c0002t0001g0056
a0001c0002t0014g0077
a0001c0002t0017g0225
a0001c0002t0038g0224
a0001c0002t0050g0049
a0001c0002t0086g0221
a0001c0002t0100g0223
a0001c0002t0109g0222
a0001c0002t0125g0116
a0001c0002t0143g0226
a0001c0002t0149g0202
a0001c0014t0135g0166
a0001c0015t0126g0149
a0002c0010t0038g0156
a0004c0008t0035g0203
a0004c0008t0103g0227
a0004c0008t0124g0229
a0004c0008t0133g0232
a0004c0008t0142g0228
a0007c0013t0132g0163
 44 HG00099.hp1
HG00140.hp1
HG00741.hp1
others(41): Show 
HG00099.hp1
HG00140.hp1
HG00741.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01192.hp1
HG01257.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01516.hp1
HG01884.hp1
HG01891.hp1
HG02145.hp1
HG02280.hp1
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02723.hp1
HG02723.hp2
HG02818.hp1
HG02886.hp2
HG02895.hp2
HG02922.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03516.hp1
HG03942.hp2
HG04184.hp1
HG04204.hp1
NA18944.hp2
NA18967.hp1
NA18973.hp2
NA18990.hp2
NA19007.hp2
NA19011.hp1
NA19066.hp1
NA20129.hp1
NA21309.hp1
 intron_variant MODIFIER c.608+4016C>T
c.608+4016C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 649275
chr17:649276 G
G
 GAGGACAG
others(34): Show 
GAGGACAGAGGAATGGAACAGGCACCGAAGATCTTACACTAT
 54 a0001c0002t0001g0045
a0001c0002t0001g0066
a0001c0002t0001g0079
others(51): Show 
a0001c0002t0001g0045
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0016t0052g0099
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0073g0068
a0002c0003t0089g0175
a0002c0003t0146g0170
 54 HG00099.hp2
HG00140.hp2
HG00280.hp1
others(51): Show 
HG00099.hp2
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00621.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01106.hp1
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01361.hp1
HG01496.hp1
HG01515.hp2
HG01978.hp1
HG01981.hp2
HG02074.hp2
HG02132.hp1
HG02135.hp1
HG02738.hp1
HG02886.hp1
HG03491.hp1
HG03492.hp1
HG03688.hp1
HG04204.hp2
NA18906.hp2
NA18940.hp1
NA18944.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18959.hp2
NA18960.hp1
NA18962.hp2
NA18973.hp1
NA18977.hp2
NA18979.hp1
NA18986.hp1
NA19007.hp1
NA19009.hp1
NA19065.hp1
NA19070.hp1
NA19079.hp1
NA19084.hp1
NA19090.hp1
NA19090.hp2
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.608+4014_608+4015i
others(43): Show 
c.608+4014_608+4015insATAGTGTAAGATCTTCGGTGCCTGTTCC
ATTCCTCTGTCCT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 649276
chr17:649276 G
G
 T
T
 45 a0001c0001t0017g0158
a0001c0001t0028g0196
a0001c0001t0028g0197
others(42): Show 
a0001c0001t0017g0158
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0034g0162
a0001c0001t0069g0012
a0001c0001t0084g0046
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0097g0199
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0105g0201
a0001c0001t0108g0148
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0114g0142
a0001c0001t0118g0195
a0001c0001t0122g0160
a0001c0001t0127g0159
a0001c0001t0138g0161
a0001c0001t0141g0165
a0001c0002t0001g0056
a0001c0002t0014g0077
a0001c0002t0017g0225
a0001c0002t0038g0224
a0001c0002t0050g0049
a0001c0002t0086g0221
a0001c0002t0100g0223
a0001c0002t0109g0222
a0001c0002t0125g0116
a0001c0002t0143g0226
a0001c0002t0149g0202
a0001c0014t0135g0166
a0001c0015t0126g0149
a0002c0010t0038g0156
a0004c0008t0035g0203
a0004c0008t0103g0227
a0004c0008t0124g0229
a0004c0008t0133g0232
a0004c0008t0142g0228
a0007c0013t0132g0163
 45 HG00099.hp1
HG00140.hp1
HG00741.hp1
others(42): Show 
HG00099.hp1
HG00140.hp1
HG00741.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01192.hp1
HG01257.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01516.hp1
HG01884.hp1
HG01891.hp1
HG02145.hp1
HG02280.hp1
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02723.hp1
HG02723.hp2
HG02818.hp1
HG02886.hp2
HG02895.hp2
HG02922.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03516.hp1
HG03942.hp2
HG04184.hp1
HG04204.hp1
NA18944.hp2
NA18967.hp1
NA18973.hp2
NA18990.hp2
NA19007.hp2
NA19011.hp1
NA19066.hp1
NA19079.hp2
NA20129.hp1
NA21309.hp1
 intron_variant MODIFIER c.608+4015C>A
c.608+4015C>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 649276
chr17:649317 G
G
 GAGGACAG
others(34): Show 
GAGGACAGAGGAATGGAACAGGCACCGAAGATCTTACACTAT
 1 a0001c0006t0074g0097
a0001c0006t0074g0097
 1 HG01099.hp2
HG01099.hp2
 intron_variant MODIFIER c.608+3973_608+3974i
others(43): Show 
c.608+3973_608+3974insATAGTGTAAGATCTTCGGTGCCTGTTCC
ATTCCTCTGTCCT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 649317
chr17:649342 C
C
 T
T
 15 a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
others(12): Show 
a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0002t0078g0041
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0011t0051g0091
 15 HG01074.hp2
HG02135.hp2
HG02602.hp1
others(12): Show 
HG01074.hp2
HG02135.hp2
HG02602.hp1
HG03516.hp2
NA18747.hp1
NA18747.hp2
NA18955.hp2
NA18960.hp2
NA18984.hp2
NA18994.hp2
NA19000.hp2
NA19010.hp2
NA19064.hp2
NA19087.hp1
NA19091.hp1
 intron_variant MODIFIER c.608+3949G>A
c.608+3949G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 649342
chr17:649383 C
C
 CGAAGATC
others(34): Show 
CGAAGATCTTACACTGGAGGACAGAGGAATGGAACAGGCACT
 42 a0001c0001t0017g0158
a0001c0001t0028g0196
a0001c0001t0028g0197
others(39): Show 
a0001c0001t0017g0158
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0032g0114
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0034g0162
a0001c0001t0084g0046
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0097g0199
a0001c0001t0105g0201
a0001c0001t0108g0148
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0118g0195
a0001c0001t0122g0160
a0001c0001t0127g0159
a0001c0001t0138g0161
a0001c0001t0141g0165
a0001c0002t0017g0225
a0001c0002t0038g0224
a0001c0002t0050g0049
a0001c0002t0086g0221
a0001c0002t0100g0223
a0001c0002t0109g0222
a0001c0002t0125g0116
a0001c0002t0143g0226
a0001c0002t0149g0202
a0001c0014t0135g0166
a0001c0015t0126g0149
a0002c0010t0038g0156
a0004c0008t0035g0203
a0004c0008t0103g0227
a0004c0008t0124g0229
a0004c0008t0133g0232
a0004c0008t0142g0228
a0007c0013t0132g0163
 42 HG00099.hp1
HG00140.hp1
HG00741.hp1
others(39): Show 
HG00099.hp1
HG00140.hp1
HG00741.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01192.hp1
HG01257.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01516.hp1
HG01884.hp1
HG01891.hp1
HG02145.hp1
HG02280.hp1
HG02572.hp1
HG02622.hp1
HG02622.hp2
HG02723.hp1
HG02723.hp2
HG02818.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp2
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03516.hp1
HG03942.hp2
HG04184.hp1
HG04204.hp1
NA18944.hp2
NA18973.hp2
NA18990.hp2
NA19007.hp2
NA19011.hp1
NA19066.hp1
NA20129.hp1
NA20300.hp2
NA21309.hp1
 intron_variant MODIFIER c.608+3907_608+3908i
others(43): Show 
c.608+3907_608+3908insAGTGCCTGTTCCATTCCTCTGTCCTCCA
GTGTAAGATCTTC
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 649383
chr17:649383 C
C
 T
T
 129 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(126): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0032g0204
a0001c0001t0034g0126
a0001c0001t0094g0129
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0110g0127
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0123g0123
a0001c0001t0128g0132
a0001c0001t0134g0154
a0001c0002t0001g0094
a0001c0002t0035g0219
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0002t0078g0041
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0001c0011t0051g0091
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0017g0179
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0018g0231
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0036g0176
a0002c0003t0085g0184
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0099g0192
a0002c0003t0104g0208
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0145g0187
a0002c0003t0148g0174
a0002c0003t0150g0191
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
a0004c0008t0036g0207
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
a0006c0012t0129g0140
 129 HG00323.hp2
HG00423.hp1
HG00423.hp2
others(126): Show 
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00621.hp1
HG00741.hp2
HG01070.hp2
HG01071.hp1
HG01074.hp2
HG01081.hp2
HG01099.hp1
HG01167.hp1
HG01175.hp2
HG01192.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp2
HG01361.hp2
HG01496.hp2
HG01515.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp2
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01978.hp2
HG01981.hp1
HG02040.hp1
HG02040.hp2
HG02056.hp1
HG02056.hp2
HG02074.hp1
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp2
HG02135.hp2
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02738.hp2
HG02922.hp1
HG03139.hp1
HG03491.hp2
HG03492.hp2
HG03516.hp2
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18940.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18950.hp1
NA18950.hp2
NA18955.hp1
NA18955.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18967.hp2
NA18977.hp1
NA18978.hp1
NA18978.hp2
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18990.hp1
NA18994.hp1
NA18994.hp2
NA19000.hp1
NA19000.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp2
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19084.hp2
NA19087.hp1
NA19087.hp2
NA19091.hp1
NA19091.hp2
NA20129.hp2
NA20300.hp1
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.608+3908G>A
c.608+3908G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 649383
chr17:649423 A
A
 C
C
 62 a0001c0001t0032g0114
a0001c0001t0069g0012
a0001c0001t0095g0145
others(59): Show 
a0001c0001t0032g0114
a0001c0001t0069g0012
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0098g0147
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0016t0052g0099
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0073g0068
a0002c0003t0089g0175
a0002c0003t0146g0170
 62 HG00099.hp2
HG00140.hp2
HG00280.hp1
others(59): Show 
HG00099.hp2
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00621.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01099.hp2
HG01106.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01361.hp1
HG01496.hp1
HG01515.hp2
HG01978.hp1
HG01981.hp2
HG02074.hp2
HG02132.hp1
HG02135.hp1
HG02738.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG03225.hp2
HG03491.hp1
HG03492.hp1
HG03688.hp1
HG04204.hp2
NA18906.hp2
NA18940.hp1
NA18944.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18959.hp2
NA18960.hp1
NA18962.hp2
NA18967.hp1
NA18973.hp1
NA18977.hp2
NA18979.hp1
NA18986.hp1
NA19007.hp1
NA19009.hp1
NA19065.hp1
NA19070.hp1
NA19079.hp1
NA19079.hp2
NA19084.hp1
NA19090.hp1
NA19090.hp2
NA20300.hp2
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.608+3868T>G
c.608+3868T>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 649423
chr17:649424 T
T
 C
C
 2 a0001c0001t0069g0012
a0001c0006t0074g0097
a0001c0001t0069g0012
a0001c0006t0074g0097
 2 HG01099.hp2
NA19079.hp2
HG01099.hp2
NA19079.hp2
 intron_variant MODIFIER c.608+3867A>G
c.608+3867A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 649424
chr17:649439 G
G
 A
A
 1 a0001c0001t0069g0012
a0001c0001t0069g0012
 1 NA19079.hp2
NA19079.hp2
 intron_variant MODIFIER c.608+3852C>T
c.608+3852C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 649439
chr17:649440 G
G
 T
T
 1 a0001c0001t0069g0012
a0001c0001t0069g0012
 1 NA19079.hp2
NA19079.hp2
 intron_variant MODIFIER c.608+3851C>A
c.608+3851C>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 649440
chr17:649464 C
C
 A
A
 56 a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
others(53): Show 
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0016t0052g0099
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0073g0068
a0002c0003t0089g0175
a0002c0003t0146g0170
 56 HG00099.hp2
HG00140.hp2
HG00280.hp1
others(53): Show 
HG00099.hp2
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00621.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01106.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01361.hp1
HG01496.hp1
HG01515.hp2
HG01978.hp1
HG01981.hp2
HG02074.hp2
HG02132.hp1
HG02135.hp1
HG02738.hp1
HG02886.hp1
HG03491.hp1
HG03492.hp1
HG03688.hp1
HG04204.hp2
NA18906.hp2
NA18940.hp1
NA18944.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18959.hp2
NA18960.hp1
NA18962.hp2
NA18967.hp1
NA18973.hp1
NA18977.hp2
NA18979.hp1
NA18986.hp1
NA19007.hp1
NA19009.hp1
NA19065.hp1
NA19070.hp1
NA19079.hp1
NA19084.hp1
NA19090.hp1
NA19090.hp2
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.608+3827G>T
c.608+3827G>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 649464
chr17:649465 T
T
 C
C
 1 a0001c0001t0069g0012
a0001c0001t0069g0012
 1 NA19079.hp2
NA19079.hp2
 intron_variant MODIFIER c.608+3826A>G
c.608+3826A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 649465
chr17:649521 G
G
 GGAGGACA
others(75): Show 
GGAGGACAGAGGAATGGAACAGGCACTGAAGATCTTACACTGGAGGACAG
AGGAATGGAACAGGCAATGAAGATCTTACACTA
 1 a0001c0001t0084g0046
a0001c0001t0084g0046
 1 HG03516.hp1
HG03516.hp1
 intron_variant MODIFIER c.608+3769_608+3770i
others(84): Show 
c.608+3769_608+3770insTAGTGTAAGATCTTCATTGCCTGTTCCA
TTCCTCTGTCCTCCAGTGTAAGATCTTCAGTGCCTGTTCCATTCCTCTGT
CCTC
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 649521
chr17:649560 C
C
 CTGGAGGA
others(34): Show 
CTGGAGGACAGAGGAATGGAACAGGCACTGAAGATCTTACAG
 4 a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0089g0175
others(1): Show 
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0089g0175
a0002c0003t0146g0170
 4 HG02074.hp2
HG02132.hp1
NA18986.hp1
others(1): Show 
HG02074.hp2
HG02132.hp1
NA18986.hp1
NA19090.hp2
 intron_variant MODIFIER c.608+3690_608+3730d
others(43): Show 
c.608+3690_608+3730dupCTGTAAGATCTTCAGTGCCTGTTCCATT
CCTCTGTCCTCCA
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 649560
chr17:649584 G
G
 A
A
 1 a0001c0007t0012g0110
a0001c0007t0012g0110
 1 HG02300.hp2
HG02300.hp2
 intron_variant MODIFIER c.608+3707C>T
c.608+3707C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 649584
chr17:649601 G
G
 C
C
 53 a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
others(50): Show 
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0016t0052g0099
a0002c0003t0073g0068
 53 HG00099.hp2
HG00140.hp2
HG00280.hp1
others(50): Show 
HG00099.hp2
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00621.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01099.hp2
HG01106.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01361.hp1
HG01496.hp1
HG01515.hp2
HG01978.hp1
HG01981.hp2
HG02135.hp1
HG02738.hp1
HG02886.hp1
HG03491.hp1
HG03492.hp1
HG03688.hp1
HG04204.hp2
NA18906.hp2
NA18940.hp1
NA18944.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18959.hp2
NA18960.hp1
NA18962.hp2
NA18967.hp1
NA18973.hp1
NA18977.hp2
NA18979.hp1
NA19007.hp1
NA19009.hp1
NA19065.hp1
NA19070.hp1
NA19079.hp1
NA19084.hp1
NA19090.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.608+3690C>G
c.608+3690C>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 649601
chr17:649603 G
G
 A
A
 1 a0001c0005t0042g0044
a0001c0005t0042g0044
 1 NA19000.hp2
NA19000.hp2
 intron_variant MODIFIER c.608+3688C>T
c.608+3688C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 649603
chr17:649681 C
C
 T
T
 4 a0001c0001t0032g0114
a0001c0001t0095g0145
a0001c0001t0096g0146
others(1): Show 
a0001c0001t0032g0114
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0098g0147
 4 HG02818.hp2
HG02895.hp1
HG03225.hp2
others(1): Show 
HG02818.hp2
HG02895.hp1
HG03225.hp2
NA20300.hp2
 intron_variant MODIFIER c.608+3610G>A
c.608+3610G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 649681
chr17:649685 G
G
 A
A
 5 a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
others(2): Show 
a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0005t0080g0092
a0001c0011t0051g0091
 5 HG01074.hp2
NA18747.hp2
NA18955.hp2
others(2): Show 
HG01074.hp2
NA18747.hp2
NA18955.hp2
NA18984.hp2
NA19064.hp2
 intron_variant MODIFIER c.608+3606C>T
c.608+3606C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 649685
chr17:649686 G
G
 T
T
 5 a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
others(2): Show 
a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0005t0080g0092
a0001c0011t0051g0091
 5 HG01074.hp2
NA18747.hp2
NA18955.hp2
others(2): Show 
HG01074.hp2
NA18747.hp2
NA18955.hp2
NA18984.hp2
NA19064.hp2
 intron_variant MODIFIER c.608+3605C>A
c.608+3605C>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 649686
chr17:649691 C
C
 T
T
 173 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(170): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0017g0158
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0032g0114
a0001c0001t0032g0204
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0034g0126
a0001c0001t0034g0162
a0001c0001t0069g0012
a0001c0001t0084g0046
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0097g0199
a0001c0001t0098g0147
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0105g0201
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0108g0148
a0001c0001t0110g0127
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0118g0195
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0122g0160
a0001c0001t0123g0123
a0001c0001t0127g0159
a0001c0001t0128g0132
a0001c0001t0134g0154
a0001c0001t0138g0161
a0001c0001t0141g0165
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0035g0219
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0078g0041
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0001c0014t0135g0166
a0001c0015t0126g0149
a0001c0016t0052g0099
a0002c0003t0073g0068
a0002c0010t0038g0156
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
a0006c0012t0129g0140
a0007c0013t0132g0163
 173 HG00099.hp2
HG00140.hp2
HG00280.hp1
others(170): Show 
HG00099.hp2
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00423.hp2
HG00438.hp1
HG00621.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp2
HG02040.hp2
HG02056.hp2
HG02074.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp2
HG04184.hp2
HG04199.hp2
HG04204.hp1
HG04204.hp2
NA18612.hp2
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18944.hp1
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18957.hp1
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18967.hp1
NA18967.hp2
NA18973.hp1
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18983.hp2
NA18984.hp1
NA18986.hp2
NA18987.hp2
NA18990.hp1
NA18994.hp1
NA18994.hp2
NA19000.hp2
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19011.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19065.hp1
NA19065.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19081.hp1
NA19081.hp2
NA19084.hp1
NA19087.hp1
NA19087.hp2
NA19090.hp1
NA19091.hp1
NA19091.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.608+3600G>A
c.608+3600G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 649691
chr17:649706 C
C
 G
G
 5 a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
others(2): Show 
a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0005t0080g0092
a0001c0011t0051g0091
 5 HG01074.hp2
NA18747.hp2
NA18955.hp2
others(2): Show 
HG01074.hp2
NA18747.hp2
NA18955.hp2
NA18984.hp2
NA19064.hp2
 intron_variant MODIFIER c.608+3585G>C
c.608+3585G>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 649706
chr17:649742 G
G
 A
A
 3 a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
 3 HG01175.hp1
HG01515.hp2
HG01981.hp2
HG01175.hp1
HG01515.hp2
HG01981.hp2
 intron_variant MODIFIER c.608+3549C>T
c.608+3549C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 649742
chr17:649837 C
C
 A
A
 1 a0001c0001t0108g0148
a0001c0001t0108g0148
 1 HG01192.hp1
HG01192.hp1
 intron_variant MODIFIER c.608+3454G>T
c.608+3454G>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 649837
chr17:650017 A
A
 G
G
 4 a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
others(1): Show 
a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0005t0080g0092
 4 NA18747.hp2
NA18955.hp2
NA18984.hp2
others(1): Show 
NA18747.hp2
NA18955.hp2
NA18984.hp2
NA19064.hp2
 intron_variant MODIFIER c.608+3274T>C
c.608+3274T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 650017
chr17:650084 G
G
 A
A
 31 a0001c0002t0035g0219
a0003c0004t0003g0015
a0003c0004t0003g0018
others(28): Show 
a0001c0002t0035g0219
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
 31 HG00438.hp1
HG01257.hp2
HG01516.hp2
others(28): Show 
HG00438.hp1
HG01257.hp2
HG01516.hp2
HG01517.hp1
HG02074.hp1
HG02109.hp1
HG03831.hp2
NA18612.hp2
NA18906.hp1
NA18945.hp1
NA18950.hp2
NA18957.hp1
NA18959.hp1
NA18961.hp2
NA18962.hp1
NA18977.hp1
NA18978.hp1
NA18984.hp1
NA18986.hp2
NA18990.hp1
NA18994.hp1
NA19011.hp2
NA19060.hp1
NA19064.hp1
NA19068.hp1
NA19080.hp1
NA19081.hp1
NA19087.hp2
NA19091.hp2
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.608+3207C>T
c.608+3207C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 650084
chr17:650193 T
T
 C
C
 1 a0001c0007t0062g0104
a0001c0007t0062g0104
 1 HG02293.hp2
HG02293.hp2
 intron_variant MODIFIER c.608+3098A>G
c.608+3098A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 650193
chr17:650232 C
C
 G
G
 1 a0001c0001t0120g0211
a0001c0001t0120g0211
 1 HG04184.hp2
HG04184.hp2
 intron_variant MODIFIER c.608+3059G>C
c.608+3059G>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 650232
chr17:650281 GC
GC
 G
G
 9 a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
others(6): Show 
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
 9 HG02135.hp2
HG02602.hp1
NA18747.hp1
others(6): Show 
HG02135.hp2
HG02602.hp1
NA18747.hp1
NA18960.hp2
NA18994.hp2
NA19000.hp2
NA19010.hp2
NA19087.hp1
NA19091.hp1
 intron_variant MODIFIER c.608+3009delG
c.608+3009delG
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 650281
chr17:650322 C
C
 T
T
 5 a0001c0002t0001g0056
a0001c0002t0001g0082
a0001c0002t0003g0053
others(2): Show 
a0001c0002t0001g0056
a0001c0002t0001g0082
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0014g0055
 5 HG01071.hp2
HG01074.hp1
HG01167.hp2
others(2): Show 
HG01071.hp2
HG01074.hp1
HG01167.hp2
HG02886.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.608+2969G>A
c.608+2969G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 650322
chr17:650374 G
G
 C
C
 1 a0003c0004t0003g0015
a0003c0004t0003g0015
 1 HG01257.hp2
HG01257.hp2
 intron_variant MODIFIER c.608+2917C>G
c.608+2917C>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 650374
chr17:650376 A
A
 T
T
 31 a0001c0002t0035g0219
a0003c0004t0003g0015
a0003c0004t0003g0018
others(28): Show 
a0001c0002t0035g0219
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
 31 HG00438.hp1
HG01257.hp2
HG01516.hp2
others(28): Show 
HG00438.hp1
HG01257.hp2
HG01516.hp2
HG01517.hp1
HG02074.hp1
HG02109.hp1
HG03831.hp2
NA18612.hp2
NA18906.hp1
NA18945.hp1
NA18950.hp2
NA18957.hp1
NA18959.hp1
NA18961.hp2
NA18962.hp1
NA18977.hp1
NA18978.hp1
NA18984.hp1
NA18986.hp2
NA18990.hp1
NA18994.hp1
NA19011.hp2
NA19060.hp1
NA19064.hp1
NA19068.hp1
NA19080.hp1
NA19081.hp1
NA19087.hp2
NA19091.hp2
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.608+2915T>A
c.608+2915T>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 650376
chr17:650496 C
C
 CA
CA
 49 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(46): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0032g0114
a0001c0001t0034g0126
a0001c0001t0069g0012
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0098g0147
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0108g0148
a0001c0001t0110g0127
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0123g0123
a0001c0001t0128g0132
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0006c0012t0129g0140
 49 HG00423.hp2
HG00741.hp2
HG01081.hp2
others(46): Show 
HG00423.hp2
HG00741.hp2
HG01081.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp2
HG01361.hp2
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp2
HG01928.hp2
HG01978.hp2
HG02040.hp2
HG02056.hp2
HG02083.hp2
HG02109.hp2
HG02129.hp2
HG02132.hp2
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02602.hp2
HG02818.hp2
HG02895.hp1
HG03225.hp2
HG03492.hp2
HG03688.hp2
HG04184.hp2
HG04199.hp2
NA18940.hp2
NA18945.hp2
NA18950.hp1
NA18961.hp1
NA18967.hp2
NA18978.hp2
NA18983.hp2
NA18987.hp2
NA19009.hp2
NA19060.hp2
NA19065.hp2
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19079.hp2
NA19081.hp2
NA20300.hp2
 intron_variant MODIFIER c.608+2794dupT
c.608+2794dupT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 650496
chr17:650584 A
A
 G
G
 1 a0001c0001t0108g0148
a0001c0001t0108g0148
 1 HG01192.hp1
HG01192.hp1
 intron_variant MODIFIER c.608+2707T>C
c.608+2707T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 650584
chr17:650785 G
G
 A
A
 15 a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
others(12): Show 
a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0002t0078g0041
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0011t0051g0091
 15 HG01074.hp2
HG02135.hp2
HG02602.hp1
others(12): Show 
HG01074.hp2
HG02135.hp2
HG02602.hp1
HG03516.hp2
NA18747.hp1
NA18747.hp2
NA18955.hp2
NA18960.hp2
NA18984.hp2
NA18994.hp2
NA19000.hp2
NA19010.hp2
NA19064.hp2
NA19087.hp1
NA19091.hp1
 intron_variant MODIFIER c.608+2506C>T
c.608+2506C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 650785
chr17:650840 C
C
 T
T
 178 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(175): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0017g0158
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0032g0114
a0001c0001t0032g0204
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0034g0126
a0001c0001t0034g0162
a0001c0001t0069g0012
a0001c0001t0084g0046
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0097g0199
a0001c0001t0098g0147
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0105g0201
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0108g0148
a0001c0001t0110g0127
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0118g0195
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0122g0160
a0001c0001t0123g0123
a0001c0001t0127g0159
a0001c0001t0128g0132
a0001c0001t0134g0154
a0001c0001t0138g0161
a0001c0001t0141g0165
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0001g0094
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0035g0219
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0065g0093
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0077g0095
a0001c0002t0078g0041
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0001c0011t0051g0091
a0001c0014t0135g0166
a0001c0015t0126g0149
a0001c0016t0052g0099
a0002c0003t0073g0068
a0002c0010t0038g0156
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
a0006c0012t0129g0140
a0007c0013t0132g0163
 178 HG00099.hp2
HG00140.hp2
HG00280.hp1
others(175): Show 
HG00099.hp2
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00423.hp2
HG00438.hp1
HG00621.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp2
HG02040.hp2
HG02056.hp2
HG02074.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp2
HG04184.hp2
HG04199.hp2
HG04204.hp1
HG04204.hp2
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18944.hp1
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18955.hp2
NA18957.hp1
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18967.hp1
NA18967.hp2
NA18973.hp1
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18986.hp2
NA18987.hp2
NA18990.hp1
NA18994.hp1
NA18994.hp2
NA19000.hp2
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19011.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19081.hp1
NA19081.hp2
NA19084.hp1
NA19087.hp1
NA19087.hp2
NA19090.hp1
NA19091.hp1
NA19091.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.608+2451G>A
c.608+2451G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 650840
chr17:650910 T
T
 A
A
 1 a0001c0001t0106g0117
a0001c0001t0106g0117
 1 HG02109.hp2
HG02109.hp2
 intron_variant MODIFIER c.608+2381A>T
c.608+2381A>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 650910
chr17:651169 T
T
 C
C
 1 a0002c0010t0038g0156
a0002c0010t0038g0156
 1 NA21309.hp1
NA21309.hp1
 intron_variant MODIFIER c.608+2122A>G
c.608+2122A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 651169
chr17:651273 T
T
 C
C
 5 a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
others(2): Show 
a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0005t0080g0092
a0001c0011t0051g0091
 5 HG01074.hp2
NA18747.hp2
NA18955.hp2
others(2): Show 
HG01074.hp2
NA18747.hp2
NA18955.hp2
NA18984.hp2
NA19064.hp2
 intron_variant MODIFIER c.608+2018A>G
c.608+2018A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 651273
chr17:651371 G
G
 A
A
 1 a0001c0001t0084g0046
a0001c0001t0084g0046
 1 HG03516.hp1
HG03516.hp1
 intron_variant MODIFIER c.608+1920C>T
c.608+1920C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 651371
chr17:651387 A
A
 C
C
 3 a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0134g0154
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0134g0154
 3 HG01891.hp2
NA20129.hp2
NA20300.hp1
HG01891.hp2
NA20129.hp2
NA20300.hp1
 intron_variant MODIFIER c.608+1904T>G
c.608+1904T>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 651387
chr17:651499 G
G
 A
A
 1 a0002c0003t0018g0231
a0002c0003t0018g0231
 1 HG03942.hp1
HG03942.hp1
 intron_variant MODIFIER c.608+1792C>T
c.608+1792C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 651499
chr17:651513 C
C
 T
T
 2 a0002c0003t0017g0179
a0002c0003t0139g0167
a0002c0003t0017g0179
a0002c0003t0139g0167
 2 NA18957.hp2
NA18983.hp1
NA18957.hp2
NA18983.hp1
 intron_variant MODIFIER c.608+1778G>A
c.608+1778G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 651513
chr17:651574 G
G
 C
C
 49 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(46): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0032g0114
a0001c0001t0034g0126
a0001c0001t0069g0012
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0098g0147
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0108g0148
a0001c0001t0110g0127
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0123g0123
a0001c0001t0128g0132
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0006c0012t0129g0140
 49 HG00423.hp2
HG00741.hp2
HG01081.hp2
others(46): Show 
HG00423.hp2
HG00741.hp2
HG01081.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp2
HG01361.hp2
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp2
HG01928.hp2
HG01978.hp2
HG02040.hp2
HG02056.hp2
HG02083.hp2
HG02109.hp2
HG02129.hp2
HG02132.hp2
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02602.hp2
HG02818.hp2
HG02895.hp1
HG03225.hp2
HG03492.hp2
HG03688.hp2
HG04184.hp2
HG04199.hp2
NA18940.hp2
NA18945.hp2
NA18950.hp1
NA18961.hp1
NA18967.hp2
NA18978.hp2
NA18983.hp2
NA18987.hp2
NA19009.hp2
NA19060.hp2
NA19065.hp2
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19079.hp2
NA19081.hp2
NA20300.hp2
 intron_variant MODIFIER c.608+1717C>G
c.608+1717C>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 651574
chr17:651611 T
T
 C
C
 24 a0001c0002t0035g0219
a0003c0004t0004g0014
a0003c0004t0004g0019
others(21): Show 
a0001c0002t0035g0219
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
 24 HG00438.hp1
HG02074.hp1
HG03831.hp2
others(21): Show 
HG00438.hp1
HG02074.hp1
HG03831.hp2
NA18612.hp2
NA18945.hp1
NA18950.hp2
NA18957.hp1
NA18959.hp1
NA18961.hp2
NA18962.hp1
NA18977.hp1
NA18978.hp1
NA18984.hp1
NA18986.hp2
NA18990.hp1
NA18994.hp1
NA19011.hp2
NA19060.hp1
NA19064.hp1
NA19068.hp1
NA19080.hp1
NA19081.hp1
NA19087.hp2
NA19091.hp2
 intron_variant MODIFIER c.608+1680A>G
c.608+1680A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 651611
chr17:651618 T
T
 C
C
 42 a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
others(39): Show 
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0002c0003t0073g0068
 42 HG00140.hp2
HG00280.hp1
HG00323.hp1
others(39): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp1
HG00621.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01106.hp1
HG01167.hp2
HG01168.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01361.hp1
HG01496.hp1
HG01978.hp1
HG02135.hp1
HG02738.hp1
HG02886.hp1
HG04204.hp2
NA18906.hp2
NA18940.hp1
NA18944.hp1
NA18946.hp2
NA18948.hp2
NA18959.hp2
NA18960.hp1
NA18962.hp2
NA18967.hp1
NA18973.hp1
NA18977.hp2
NA18979.hp1
NA19007.hp1
NA19009.hp1
NA19065.hp1
NA19070.hp1
NA19079.hp1
NA19084.hp1
NA19090.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.608+1673A>G
c.608+1673A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 651618
chr17:651672 G
G
 A
A
 53 a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
others(50): Show 
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0016t0052g0099
a0002c0003t0073g0068
 53 HG00099.hp2
HG00140.hp2
HG00280.hp1
others(50): Show 
HG00099.hp2
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00621.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01099.hp2
HG01106.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01361.hp1
HG01496.hp1
HG01515.hp2
HG01978.hp1
HG01981.hp2
HG02135.hp1
HG02738.hp1
HG02886.hp1
HG03491.hp1
HG03492.hp1
HG03688.hp1
HG04204.hp2
NA18906.hp2
NA18940.hp1
NA18944.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18959.hp2
NA18960.hp1
NA18962.hp2
NA18967.hp1
NA18973.hp1
NA18977.hp2
NA18979.hp1
NA19007.hp1
NA19009.hp1
NA19065.hp1
NA19070.hp1
NA19079.hp1
NA19084.hp1
NA19090.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.608+1619C>T
c.608+1619C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 651672
chr17:652005 A
A
 AT
AT
 5 a0001c0001t0113g0122
a0001c0001t0120g0211
a0001c0005t0019g0006
others(2): Show 
a0001c0001t0113g0122
a0001c0001t0120g0211
a0001c0005t0019g0006
a0002c0003t0018g0231
a0003c0004t0061g0031
 5 HG00741.hp2
HG03942.hp1
HG04184.hp2
others(2): Show 
HG00741.hp2
HG03942.hp1
HG04184.hp2
NA18978.hp1
NA19010.hp2
 intron_variant MODIFIER c.608+1285dupA
c.608+1285dupA
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 652005
chr17:652005 AT
AT
 A
A
 5 a0001c0001t0084g0046
a0001c0001t0119g0144
a0001c0002t0001g0080
others(2): Show 
a0001c0001t0084g0046
a0001c0001t0119g0144
a0001c0002t0001g0080
a0001c0002t0078g0041
a0001c0002t0079g0086
 5 HG00323.hp1
HG01106.hp1
HG03516.hp1
others(2): Show 
HG00323.hp1
HG01106.hp1
HG03516.hp1
HG03516.hp2
NA18987.hp2
 intron_variant MODIFIER c.608+1285delA
c.608+1285delA
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 652005
chr17:652089 C
C
 CACCT
CACCT
 4 a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
others(1): Show 
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0025g0038
 4 NA18612.hp2
NA18990.hp1
NA19011.hp2
others(1): Show 
NA18612.hp2
NA18990.hp1
NA19011.hp2
NA19068.hp1
 intron_variant MODIFIER c.608+1201_608+1202i
others(6): Show 
c.608+1201_608+1202insAGGT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 652089
chr17:652361 A
A
 G
G
 1 a0001c0002t0035g0219
a0001c0002t0035g0219
 1 HG00438.hp1
HG00438.hp1
 intron_variant MODIFIER c.608+930T>C
c.608+930T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 652361
chr17:652538 C
C
 T
T
 31 a0001c0002t0035g0219
a0003c0004t0003g0015
a0003c0004t0003g0018
others(28): Show 
a0001c0002t0035g0219
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
 31 HG00438.hp1
HG01257.hp2
HG01516.hp2
others(28): Show 
HG00438.hp1
HG01257.hp2
HG01516.hp2
HG01517.hp1
HG02074.hp1
HG02109.hp1
HG03831.hp2
NA18612.hp2
NA18906.hp1
NA18945.hp1
NA18950.hp2
NA18957.hp1
NA18959.hp1
NA18961.hp2
NA18962.hp1
NA18977.hp1
NA18978.hp1
NA18984.hp1
NA18986.hp2
NA18990.hp1
NA18994.hp1
NA19011.hp2
NA19060.hp1
NA19064.hp1
NA19068.hp1
NA19080.hp1
NA19081.hp1
NA19087.hp2
NA19091.hp2
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.608+753G>A
c.608+753G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 652538
chr17:652576 A
A
 G
G
 99 a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
others(96): Show 
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0001g0094
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0035g0219
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0065g0093
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0077g0095
a0001c0002t0078g0041
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0011t0051g0091
a0001c0016t0052g0099
a0002c0003t0073g0068
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
 99 HG00099.hp2
HG00140.hp2
HG00280.hp1
others(96): Show 
HG00099.hp2
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00438.hp1
HG00621.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01099.hp2
HG01106.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01255.hp1
HG01256.hp1
HG01257.hp2
HG01258.hp1
HG01361.hp1
HG01496.hp1
HG01515.hp2
HG01516.hp2
HG01517.hp1
HG01978.hp1
HG01981.hp2
HG02074.hp1
HG02109.hp1
HG02135.hp1
HG02135.hp2
HG02602.hp1
HG02738.hp1
HG02886.hp1
HG03491.hp1
HG03492.hp1
HG03516.hp2
HG03688.hp1
HG03831.hp2
HG04204.hp2
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18944.hp1
NA18945.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp2
NA18955.hp2
NA18957.hp1
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18967.hp1
NA18973.hp1
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18979.hp1
NA18984.hp1
NA18984.hp2
NA18986.hp2
NA18990.hp1
NA18994.hp1
NA18994.hp2
NA19000.hp2
NA19007.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp2
NA19060.hp1
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19068.hp1
NA19070.hp1
NA19079.hp1
NA19080.hp1
NA19081.hp1
NA19084.hp1
NA19087.hp1
NA19087.hp2
NA19090.hp1
NA19091.hp1
NA19091.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.608+715T>C
c.608+715T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 652576
chr17:652641 C
C
 T
T
 1 a0001c0001t0106g0117
a0001c0001t0106g0117
 1 HG02109.hp2
HG02109.hp2
 intron_variant MODIFIER c.608+650G>A
c.608+650G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 652641
chr17:652655 C
C
 G
G
 2 a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0020g0005
a0001c0005t0020g0010
 2 NA19087.hp1
NA19091.hp1
NA19087.hp1
NA19091.hp1
 intron_variant MODIFIER c.608+636G>C
c.608+636G>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 652655
chr17:652914 C
C
 G
G
 1 a0002c0003t0008g0183
a0002c0003t0008g0183
 1 NA19010.hp1
NA19010.hp1
 intron_variant MODIFIER c.608+377G>C
c.608+377G>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 652914
chr17:653123 C
C
 T
T
 1 a0001c0001t0118g0195
a0001c0001t0118g0195
 1 HG01346.hp2
HG01346.hp2
 intron_variant MODIFIER c.608+168G>A
c.608+168G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 653123
chr17:653131 T
T
 C
C
 1 a0001c0001t0084g0046
a0001c0001t0084g0046
 1 HG03516.hp1
HG03516.hp1
 intron_variant MODIFIER c.608+160A>G
c.608+160A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 653131
chr17:653155 CGGTGACA
others(54): Show 
CGGTGACAGTTTACCTTTTGGAAAGCTGCCGGATCTGCGGAATCCCCATA
TACTTTCCCTCT
 C
C
 1 a0001c0001t0107g0212
a0001c0001t0107g0212
 1 HG01255.hp2
HG01255.hp2
 intron_variant MODIFIER c.608+75_608+135delA
others(60): Show 
c.608+75_608+135delAGAGGGAAAGTATATGGGGATTCCGCAGATC
CGGCAGCTTTCCAAAAGGTAAACTGTCACC
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 653155
chr17:653173 TGGAAAGC
others(54): Show 
TGGAAAGCTGCCGGATCTGCGGAATCCCCATATACTTTCCCTCTGGTGAC
AGTTTACCTTTC
 T
T
 15 a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
others(12): Show 
a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0002t0078g0041
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0011t0051g0091
 15 HG01074.hp2
HG02135.hp2
HG02602.hp1
others(12): Show 
HG01074.hp2
HG02135.hp2
HG02602.hp1
HG03516.hp2
NA18747.hp1
NA18747.hp2
NA18955.hp2
NA18960.hp2
NA18984.hp2
NA18994.hp2
NA19000.hp2
NA19010.hp2
NA19064.hp2
NA19087.hp1
NA19091.hp1
 intron_variant MODIFIER c.608+57_608+117delG
others(60): Show 
c.608+57_608+117delGAAAGGTAAACTGTCACCAGAGGGAAAGTAT
ATGGGGATTCCGCAGATCCGGCAGCTTTCC
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 653173
chr17:653245 C
C
 A
A
 14 a0001c0001t0017g0158
a0001c0001t0032g0204
a0001c0001t0033g0205
others(11): Show 
a0001c0001t0017g0158
a0001c0001t0032g0204
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0034g0162
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0122g0160
a0001c0001t0127g0159
a0001c0001t0138g0161
a0001c0001t0141g0165
a0001c0014t0135g0166
a0001c0015t0126g0149
a0007c0013t0132g0163
 14 HG00741.hp1
HG01106.hp2
HG01109.hp1
others(11): Show 
HG00741.hp1
HG01106.hp2
HG01109.hp1
HG01257.hp1
HG01258.hp2
HG01891.hp1
HG02572.hp1
HG02723.hp1
HG02886.hp2
HG02895.hp2
HG02922.hp1
HG03225.hp1
HG04204.hp1
NA20129.hp1
 intron_variant MODIFIER c.608+46G>T
c.608+46G>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 7/21 chr17 653245
chr17:653457 G
G
 A
A
 1 a0001c0002t0007g0062
a0001c0002t0007g0062
 1 NA18959.hp2
NA18959.hp2
 intron_variant MODIFIER c.489-47C>T
c.489-47C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 6/21 chr17 653457
chr17:653532 C
C
 G
G
 2 a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0101g0200
a0001c0001t0102g0220
 2 HG02572.hp2
HG03139.hp1
HG02572.hp2
HG03139.hp1
 intron_variant MODIFIER c.489-122G>C
c.489-122G>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 6/21 chr17 653532
chr17:653644 A
A
 G
G
 53 a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
others(50): Show 
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0016t0052g0099
a0002c0003t0073g0068
 53 HG00099.hp2
HG00140.hp2
HG00280.hp1
others(50): Show 
HG00099.hp2
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00621.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01099.hp2
HG01106.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01361.hp1
HG01496.hp1
HG01515.hp2
HG01978.hp1
HG01981.hp2
HG02135.hp1
HG02738.hp1
HG02886.hp1
HG03491.hp1
HG03492.hp1
HG03688.hp1
HG04204.hp2
NA18906.hp2
NA18940.hp1
NA18944.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18959.hp2
NA18960.hp1
NA18962.hp2
NA18967.hp1
NA18973.hp1
NA18977.hp2
NA18979.hp1
NA19007.hp1
NA19009.hp1
NA19065.hp1
NA19070.hp1
NA19079.hp1
NA19084.hp1
NA19090.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.489-234T>C
c.489-234T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 6/21 chr17 653644
chr17:653782 T
T
 C
C
 1 a0001c0001t0084g0046
a0001c0001t0084g0046
 1 HG03516.hp1
HG03516.hp1
 intron_variant MODIFIER c.489-372A>G
c.489-372A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 6/21 chr17 653782
chr17:653813 C
C
 A
A
 15 a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
others(12): Show 
a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0002t0078g0041
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0011t0051g0091
 15 HG01074.hp2
HG02135.hp2
HG02602.hp1
others(12): Show 
HG01074.hp2
HG02135.hp2
HG02602.hp1
HG03516.hp2
NA18747.hp1
NA18747.hp2
NA18955.hp2
NA18960.hp2
NA18984.hp2
NA18994.hp2
NA19000.hp2
NA19010.hp2
NA19064.hp2
NA19087.hp1
NA19091.hp1
 intron_variant MODIFIER c.489-403G>T
c.489-403G>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 6/21 chr17 653813
chr17:653883 G
G
 A
A
 53 a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
others(50): Show 
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0016t0052g0099
a0002c0003t0073g0068
 53 HG00099.hp2
HG00140.hp2
HG00280.hp1
others(50): Show 
HG00099.hp2
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00621.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01099.hp2
HG01106.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01361.hp1
HG01496.hp1
HG01515.hp2
HG01978.hp1
HG01981.hp2
HG02135.hp1
HG02738.hp1
HG02886.hp1
HG03491.hp1
HG03492.hp1
HG03688.hp1
HG04204.hp2
NA18906.hp2
NA18940.hp1
NA18944.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18959.hp2
NA18960.hp1
NA18962.hp2
NA18967.hp1
NA18973.hp1
NA18977.hp2
NA18979.hp1
NA19007.hp1
NA19009.hp1
NA19065.hp1
NA19070.hp1
NA19079.hp1
NA19084.hp1
NA19090.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.489-473C>T
c.489-473C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 6/21 chr17 653883
chr17:653909 G
G
 A
A
 68 a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
others(65): Show 
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0001g0094
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0065g0093
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0077g0095
a0001c0002t0078g0041
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0011t0051g0091
a0001c0016t0052g0099
a0002c0003t0073g0068
 68 HG00099.hp2
HG00140.hp2
HG00280.hp1
others(65): Show 
HG00099.hp2
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00621.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01099.hp2
HG01106.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01361.hp1
HG01496.hp1
HG01515.hp2
HG01978.hp1
HG01981.hp2
HG02135.hp1
HG02135.hp2
HG02602.hp1
HG02738.hp1
HG02886.hp1
HG03491.hp1
HG03492.hp1
HG03516.hp2
HG03688.hp1
HG04204.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp2
NA18940.hp1
NA18944.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18955.hp2
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18962.hp2
NA18967.hp1
NA18973.hp1
NA18977.hp2
NA18979.hp1
NA18984.hp2
NA18994.hp2
NA19000.hp2
NA19007.hp1
NA19009.hp1
NA19010.hp2
NA19064.hp2
NA19065.hp1
NA19070.hp1
NA19079.hp1
NA19084.hp1
NA19087.hp1
NA19090.hp1
NA19091.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.489-499C>T
c.489-499C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 6/21 chr17 653909
chr17:654150 G
G
 A
A
 9 a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
others(6): Show 
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
 9 HG02135.hp2
HG02602.hp1
NA18747.hp1
others(6): Show 
HG02135.hp2
HG02602.hp1
NA18747.hp1
NA18960.hp2
NA18994.hp2
NA19000.hp2
NA19010.hp2
NA19087.hp1
NA19091.hp1
 intron_variant MODIFIER c.489-740C>T
c.489-740C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 6/21 chr17 654150
chr17:654264 G
G
 A
A
 12 a0001c0002t0017g0225
a0001c0002t0038g0224
a0001c0002t0086g0221
others(9): Show 
a0001c0002t0017g0225
a0001c0002t0038g0224
a0001c0002t0086g0221
a0001c0002t0100g0223
a0001c0002t0125g0116
a0001c0002t0143g0226
a0001c0002t0149g0202
a0004c0008t0035g0203
a0004c0008t0103g0227
a0004c0008t0124g0229
a0004c0008t0133g0232
a0004c0008t0142g0228
 12 HG00140.hp1
HG01346.hp1
HG01516.hp1
others(9): Show 
HG00140.hp1
HG01346.hp1
HG01516.hp1
HG02145.hp1
HG03942.hp2
HG04184.hp1
NA18944.hp2
NA18973.hp2
NA18990.hp2
NA19007.hp2
NA19011.hp1
NA19066.hp1
 intron_variant MODIFIER c.489-854C>T
c.489-854C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 6/21 chr17 654264
chr17:654361 T
T
 C
C
 1 a0002c0003t0009g0188
a0002c0003t0009g0188
 1 NA19080.hp2
NA19080.hp2
 intron_variant MODIFIER c.489-951A>G
c.489-951A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 6/21 chr17 654361
chr17:654443 A
A
 G
G
 31 a0001c0002t0035g0219
a0003c0004t0003g0015
a0003c0004t0003g0018
others(28): Show 
a0001c0002t0035g0219
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
 31 HG00438.hp1
HG01257.hp2
HG01516.hp2
others(28): Show 
HG00438.hp1
HG01257.hp2
HG01516.hp2
HG01517.hp1
HG02074.hp1
HG02109.hp1
HG03831.hp2
NA18612.hp2
NA18906.hp1
NA18945.hp1
NA18950.hp2
NA18957.hp1
NA18959.hp1
NA18961.hp2
NA18962.hp1
NA18977.hp1
NA18978.hp1
NA18984.hp1
NA18986.hp2
NA18990.hp1
NA18994.hp1
NA19011.hp2
NA19060.hp1
NA19064.hp1
NA19068.hp1
NA19080.hp1
NA19081.hp1
NA19087.hp2
NA19091.hp2
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.489-1033T>C
c.489-1033T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 6/21 chr17 654443
chr17:654501 G
G
 A
A
 1 a0001c0002t0078g0041
a0001c0002t0078g0041
 1 HG03516.hp2
HG03516.hp2
 intron_variant MODIFIER c.489-1091C>T
c.489-1091C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 6/21 chr17 654501
chr17:654591 A
A
 G
G
 4 a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0088g0152
others(1): Show 
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0088g0152
a0001c0001t0097g0199
 4 HG01884.hp1
HG02622.hp2
HG02922.hp2
others(1): Show 
HG01884.hp1
HG02622.hp2
HG02922.hp2
HG03139.hp2
 intron_variant MODIFIER c.489-1181T>C
c.489-1181T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 6/21 chr17 654591
chr17:654598 T
T
 G
G
 15 a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
others(12): Show 
a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0002t0078g0041
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0011t0051g0091
 15 HG01074.hp2
HG02135.hp2
HG02602.hp1
others(12): Show 
HG01074.hp2
HG02135.hp2
HG02602.hp1
HG03516.hp2
NA18747.hp1
NA18747.hp2
NA18955.hp2
NA18960.hp2
NA18984.hp2
NA18994.hp2
NA19000.hp2
NA19010.hp2
NA19064.hp2
NA19087.hp1
NA19091.hp1
 intron_variant MODIFIER c.489-1188A>C
c.489-1188A>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 6/21 chr17 654598
chr17:654654 G
G
 A
A
 54 a0001c0001t0107g0212
a0001c0002t0001g0045
a0001c0002t0001g0056
others(51): Show 
a0001c0001t0107g0212
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0016t0052g0099
a0002c0003t0073g0068
 54 HG00099.hp2
HG00140.hp2
HG00280.hp1
others(51): Show 
HG00099.hp2
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00621.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01099.hp2
HG01106.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01258.hp1
HG01361.hp1
HG01496.hp1
HG01515.hp2
HG01978.hp1
HG01981.hp2
HG02135.hp1
HG02738.hp1
HG02886.hp1
HG03491.hp1
HG03492.hp1
HG03688.hp1
HG04204.hp2
NA18906.hp2
NA18940.hp1
NA18944.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18959.hp2
NA18960.hp1
NA18962.hp2
NA18967.hp1
NA18973.hp1
NA18977.hp2
NA18979.hp1
NA19007.hp1
NA19009.hp1
NA19065.hp1
NA19070.hp1
NA19079.hp1
NA19084.hp1
NA19090.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.488+1184C>T
c.488+1184C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 6/21 chr17 654654
chr17:654667 G
G
 A
A
 49 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(46): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0032g0114
a0001c0001t0034g0126
a0001c0001t0069g0012
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0098g0147
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0108g0148
a0001c0001t0110g0127
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0123g0123
a0001c0001t0128g0132
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0006c0012t0129g0140
 49 HG00423.hp2
HG00741.hp2
HG01081.hp2
others(46): Show 
HG00423.hp2
HG00741.hp2
HG01081.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp2
HG01361.hp2
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp2
HG01928.hp2
HG01978.hp2
HG02040.hp2
HG02056.hp2
HG02083.hp2
HG02109.hp2
HG02129.hp2
HG02132.hp2
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02602.hp2
HG02818.hp2
HG02895.hp1
HG03225.hp2
HG03492.hp2
HG03688.hp2
HG04184.hp2
HG04199.hp2
NA18940.hp2
NA18945.hp2
NA18950.hp1
NA18961.hp1
NA18967.hp2
NA18978.hp2
NA18983.hp2
NA18987.hp2
NA19009.hp2
NA19060.hp2
NA19065.hp2
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19079.hp2
NA19081.hp2
NA20300.hp2
 intron_variant MODIFIER c.488+1171C>T
c.488+1171C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 6/21 chr17 654667
chr17:654736 C
C
 CA
CA
 68 a0001c0001t0017g0158
a0001c0001t0028g0196
a0001c0001t0028g0197
others(65): Show 
a0001c0001t0017g0158
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0032g0114
a0001c0001t0032g0204
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0034g0162
a0001c0001t0084g0046
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0097g0199
a0001c0001t0098g0147
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0105g0201
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0118g0195
a0001c0001t0122g0160
a0001c0001t0127g0159
a0001c0001t0134g0154
a0001c0001t0138g0161
a0001c0001t0141g0165
a0001c0002t0001g0094
a0001c0002t0007g0062
a0001c0002t0035g0219
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0005t0080g0092
a0001c0011t0051g0091
a0001c0014t0135g0166
a0001c0015t0126g0149
a0002c0003t0145g0187
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
a0007c0013t0132g0163
 68 HG00438.hp1
HG00741.hp1
HG01074.hp2
others(65): Show 
HG00438.hp1
HG00741.hp1
HG01074.hp2
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp2
HG01346.hp2
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01891.hp1
HG01891.hp2
HG02074.hp1
HG02109.hp1
HG02572.hp1
HG02572.hp2
HG02622.hp1
HG02622.hp2
HG02723.hp1
HG02723.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03516.hp1
HG03831.hp2
HG04199.hp1
HG04204.hp1
NA18612.hp2
NA18747.hp2
NA18906.hp1
NA18945.hp1
NA18950.hp2
NA18955.hp2
NA18957.hp1
NA18959.hp1
NA18959.hp2
NA18962.hp1
NA18977.hp1
NA18984.hp1
NA18984.hp2
NA18986.hp2
NA18990.hp1
NA18994.hp1
NA19011.hp2
NA19060.hp1
NA19064.hp1
NA19064.hp2
NA19080.hp1
NA19081.hp1
NA19087.hp2
NA19091.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.488+1101dupT
c.488+1101dupT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 6/21 chr17 654736
chr17:654751 A
A
 AG
AG
 44 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(41): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0034g0126
a0001c0001t0069g0012
a0001c0001t0094g0129
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0110g0127
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0123g0123
a0001c0001t0128g0132
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0006c0012t0129g0140
 44 HG00423.hp2
HG00741.hp2
HG01081.hp2
others(41): Show 
HG00423.hp2
HG00741.hp2
HG01081.hp2
HG01175.hp2
HG01192.hp2
HG01255.hp2
HG01256.hp2
HG01361.hp2
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp2
HG01928.hp2
HG01978.hp2
HG02040.hp2
HG02056.hp2
HG02083.hp2
HG02109.hp2
HG02129.hp2
HG02132.hp2
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02602.hp2
HG03492.hp2
HG03688.hp2
HG04184.hp2
HG04199.hp2
NA18940.hp2
NA18945.hp2
NA18950.hp1
NA18961.hp1
NA18967.hp2
NA18978.hp2
NA18983.hp2
NA18987.hp2
NA19009.hp2
NA19060.hp2
NA19065.hp2
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19079.hp2
NA19081.hp2
 intron_variant MODIFIER c.488+1086_488+1087i
others(3): Show 
c.488+1086_488+1087insC
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 6/21 chr17 654751
chr17:654811 C
C
 T
T
 8 a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
others(5): Show 
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0097g0199
a0001c0001t0105g0201
 8 HG01109.hp2
HG01884.hp1
HG02622.hp1
others(5): Show 
HG01109.hp2
HG01884.hp1
HG02622.hp1
HG02622.hp2
HG02723.hp2
HG02818.hp1
HG02922.hp2
HG03139.hp2
 intron_variant MODIFIER c.488+1027G>A
c.488+1027G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 6/21 chr17 654811
chr17:654935 C
C
 T
T
 3 a0002c0003t0008g0182
a0002c0003t0090g0171
a0002c0003t0104g0208
a0002c0003t0008g0182
a0002c0003t0090g0171
a0002c0003t0104g0208
 3 HG02083.hp1
NA18612.hp1
NA18987.hp1
HG02083.hp1
NA18612.hp1
NA18987.hp1
 intron_variant MODIFIER c.488+903G>A
c.488+903G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 6/21 chr17 654935
chr17:655097 G
G
 A
A
 1 a0002c0003t0150g0191
a0002c0003t0150g0191
 1 HG01981.hp1
HG01981.hp1
 intron_variant MODIFIER c.488+741C>T
c.488+741C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 6/21 chr17 655097
chr17:655165 C
C
 T
T
 1 a0001c0005t0019g0006
a0001c0005t0019g0006
 1 NA19010.hp2
NA19010.hp2
 intron_variant MODIFIER c.488+673G>A
c.488+673G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 6/21 chr17 655165
chr17:655277 T
T
 C
C
 1 a0002c0003t0008g0183
a0002c0003t0008g0183
 1 NA19010.hp1
NA19010.hp1
 intron_variant MODIFIER c.488+561A>G
c.488+561A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 6/21 chr17 655277
chr17:655315 T
T
 TAAAAAGT
others(8): Show 
TAAAAAGTAGATTGAA
 229 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(226): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0017g0158
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0032g0114
a0001c0001t0032g0204
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0034g0126
a0001c0001t0034g0162
a0001c0001t0069g0012
a0001c0001t0084g0046
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0097g0199
a0001c0001t0098g0147
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0105g0201
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0108g0148
a0001c0001t0110g0127
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0118g0195
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0122g0160
a0001c0001t0123g0123
a0001c0001t0127g0159
a0001c0001t0128g0132
a0001c0001t0134g0154
a0001c0001t0138g0161
a0001c0001t0141g0165
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0001g0094
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0017g0225
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0035g0219
a0001c0002t0038g0224
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0050g0049
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0065g0093
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0077g0095
a0001c0002t0078g0041
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0002t0086g0221
a0001c0002t0100g0223
a0001c0002t0109g0222
a0001c0002t0125g0116
a0001c0002t0143g0226
a0001c0002t0149g0202
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0001c0011t0051g0091
a0001c0014t0135g0166
a0001c0015t0126g0149
a0001c0016t0052g0099
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0017g0179
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0018g0231
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0073g0068
a0002c0003t0085g0184
a0002c0003t0089g0175
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0099g0192
a0002c0003t0104g0208
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0145g0187
a0002c0003t0146g0170
a0002c0003t0148g0174
a0002c0003t0150g0191
a0002c0010t0038g0156
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
a0004c0008t0035g0203
a0004c0008t0036g0207
a0004c0008t0103g0227
a0004c0008t0124g0229
a0004c0008t0133g0232
a0004c0008t0142g0228
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
a0006c0012t0129g0140
a0007c0013t0132g0163
 229 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(226): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00621.hp1
HG00621.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02056.hp1
HG02056.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18955.hp1
NA18955.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18967.hp2
NA18973.hp1
NA18973.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18990.hp1
NA18990.hp2
NA18994.hp1
NA18994.hp2
NA19000.hp1
NA19000.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19087.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.488+522_488+523ins
others(15): Show 
c.488+522_488+523insTTCAATCTACTTTTT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 6/21 chr17 655315
chr17:655315 T
T
 TAAAAAGT
others(9): Show 
TAAAAAGTAGATTGAAA
 1 a0001c0002t0014g0077
a0001c0002t0014g0077
 1 NA18967.hp1
NA18967.hp1
 intron_variant MODIFIER c.488+522_488+523ins
others(16): Show 
c.488+522_488+523insTTTCAATCTACTTTTT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 6/21 chr17 655315
chr17:655368 AC
AC
 A
A
 38 a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
others(35): Show 
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0017g0179
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0018g0231
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0085g0184
a0002c0003t0089g0175
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0099g0192
a0002c0003t0104g0208
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0145g0187
a0002c0003t0146g0170
a0002c0003t0148g0174
a0002c0003t0150g0191
a0004c0008t0036g0207
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
 38 HG00323.hp2
HG00423.hp1
HG00438.hp2
others(35): Show 
HG00323.hp2
HG00423.hp1
HG00438.hp2
HG00621.hp1
HG01070.hp2
HG01071.hp1
HG01099.hp1
HG01167.hp1
HG01928.hp1
HG01981.hp1
HG02040.hp1
HG02056.hp1
HG02074.hp2
HG02083.hp1
HG02129.hp1
HG02132.hp1
HG02293.hp1
HG02300.hp1
HG02738.hp2
HG03491.hp2
HG03831.hp1
HG03942.hp1
HG04199.hp1
NA18612.hp1
NA18946.hp1
NA18955.hp1
NA18957.hp2
NA18979.hp2
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA19000.hp1
NA19010.hp1
NA19066.hp2
NA19074.hp1
NA19080.hp2
NA19084.hp2
NA19090.hp2
 intron_variant MODIFIER c.488+469delG
c.488+469delG
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 6/21 chr17 655368
chr17:655372 T
T
 C
C
 10 a0001c0002t0078g0041
a0001c0005t0010g0008
a0001c0005t0019g0006
others(7): Show 
a0001c0002t0078g0041
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
 10 HG02135.hp2
HG02602.hp1
HG03516.hp2
others(7): Show 
HG02135.hp2
HG02602.hp1
HG03516.hp2
NA18747.hp1
NA18960.hp2
NA18994.hp2
NA19000.hp2
NA19010.hp2
NA19087.hp1
NA19091.hp1
 intron_variant MODIFIER c.488+466A>G
c.488+466A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 6/21 chr17 655372
chr17:655473 C
C
 T
T
 1 a0001c0006t0041g0001
a0001c0006t0041g0001
 1 HG01175.hp1
HG01175.hp1
 intron_variant MODIFIER c.488+365G>A
c.488+365G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 6/21 chr17 655473
chr17:655475 CGTCACTC
others(28): Show 
CGTCACTCTGTCTGCCTGGAGTGCATATGGGCCTGT
 C
C
 3 a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
 3 NA18612.hp2
NA18990.hp1
NA19011.hp2
NA18612.hp2
NA18990.hp1
NA19011.hp2
 intron_variant MODIFIER c.488+328_488+362del
others(35): Show 
c.488+328_488+362delACAGGCCCATATGCACTCCAGGCAGACAGA
GTGAC
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 6/21 chr17 655475
chr17:655549 ACT
ACT
 A
A
 41 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(38): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0034g0126
a0001c0001t0069g0012
a0001c0001t0094g0129
a0001c0001t0107g0212
a0001c0001t0110g0127
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0123g0123
a0001c0001t0128g0132
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0006c0012t0129g0140
 41 HG00423.hp2
HG00741.hp2
HG01081.hp2
others(38): Show 
HG00423.hp2
HG00741.hp2
HG01081.hp2
HG01175.hp2
HG01192.hp2
HG01255.hp2
HG01256.hp2
HG01361.hp2
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01928.hp2
HG01978.hp2
HG02040.hp2
HG02056.hp2
HG02083.hp2
HG02129.hp2
HG02132.hp2
HG02293.hp2
HG02300.hp2
HG02602.hp2
HG03492.hp2
HG03688.hp2
HG04184.hp2
HG04199.hp2
NA18940.hp2
NA18945.hp2
NA18950.hp1
NA18961.hp1
NA18967.hp2
NA18978.hp2
NA18983.hp2
NA18987.hp2
NA19009.hp2
NA19060.hp2
NA19065.hp2
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19079.hp2
NA19081.hp2
 intron_variant MODIFIER c.488+287_488+288del
others(2): Show 
c.488+287_488+288delAG
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 6/21 chr17 655549
chr17:655620 C
C
 T
T
 4 a0002c0003t0036g0176
a0002c0003t0131g0193
a0002c0003t0140g0194
others(1): Show 
a0002c0003t0036g0176
a0002c0003t0131g0193
a0002c0003t0140g0194
a0002c0003t0144g0215
 4 HG00323.hp2
HG01070.hp2
HG01071.hp1
others(1): Show 
HG00323.hp2
HG01070.hp2
HG01071.hp1
HG02738.hp2
 intron_variant MODIFIER c.488+218G>A
c.488+218G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 6/21 chr17 655620
chr17:655748 T
T
 C
C
 1 a0001c0002t0109g0222
a0001c0002t0109g0222
 1 HG00099.hp1
HG00099.hp1
 intron_variant MODIFIER c.488+90A>G
c.488+90A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 6/21 chr17 655748
chr17:656125 T
T
 G
G
 2 a0002c0003t0131g0193
a0002c0003t0140g0194
a0002c0003t0131g0193
a0002c0003t0140g0194
 2 HG01070.hp2
HG01071.hp1
HG01070.hp2
HG01071.hp1
 intron_variant MODIFIER c.373-172A>C
c.373-172A>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 5/21 chr17 656125
chr17:656278 C
C
 T
T
 9 a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
others(6): Show 
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
 9 HG02135.hp2
HG02602.hp1
NA18747.hp1
others(6): Show 
HG02135.hp2
HG02602.hp1
NA18747.hp1
NA18960.hp2
NA18994.hp2
NA19000.hp2
NA19010.hp2
NA19087.hp1
NA19091.hp1
 intron_variant MODIFIER c.373-325G>A
c.373-325G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 5/21 chr17 656278
chr17:656299 G
G
 A
A
 3 a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0134g0154
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0134g0154
 3 HG01891.hp2
NA20129.hp2
NA20300.hp1
HG01891.hp2
NA20129.hp2
NA20300.hp1
 intron_variant MODIFIER c.373-346C>T
c.373-346C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 5/21 chr17 656299
chr17:656648 A
A
 T
T
 53 a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
others(50): Show 
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0016t0052g0099
a0002c0003t0073g0068
 53 HG00099.hp2
HG00140.hp2
HG00280.hp1
others(50): Show 
HG00099.hp2
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00621.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01099.hp2
HG01106.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01361.hp1
HG01496.hp1
HG01515.hp2
HG01978.hp1
HG01981.hp2
HG02135.hp1
HG02738.hp1
HG02886.hp1
HG03491.hp1
HG03492.hp1
HG03688.hp1
HG04204.hp2
NA18906.hp2
NA18940.hp1
NA18944.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18959.hp2
NA18960.hp1
NA18962.hp2
NA18967.hp1
NA18973.hp1
NA18977.hp2
NA18979.hp1
NA19007.hp1
NA19009.hp1
NA19065.hp1
NA19070.hp1
NA19079.hp1
NA19084.hp1
NA19090.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.373-695T>A
c.373-695T>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 5/21 chr17 656648
chr17:656700 A
A
 ATG
ATG
 2 a0001c0005t0010g0008
a0001c0005t0042g0044
a0001c0005t0010g0008
a0001c0005t0042g0044
 2 NA18747.hp1
NA19000.hp2
NA18747.hp1
NA19000.hp2
 intron_variant MODIFIER c.373-749_373-748dup
others(2): Show 
c.373-749_373-748dupCA
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 5/21 chr17 656700
chr17:656700 A
A
 ATGTGTG
ATGTGTG
 6 a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0010
others(3): Show 
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0010
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
 6 HG02135.hp2
HG02602.hp1
NA18960.hp2
others(3): Show 
HG02135.hp2
HG02602.hp1
NA18960.hp2
NA18994.hp2
NA19010.hp2
NA19091.hp1
 intron_variant MODIFIER c.373-753_373-748dup
others(6): Show 
c.373-753_373-748dupCACACA
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 5/21 chr17 656700
chr17:656700 A
A
 ATGTGTGT
others(1): Show 
ATGTGTGTG
 8 a0001c0005t0020g0005
a0003c0004t0003g0015
a0003c0004t0003g0043
others(5): Show 
a0001c0005t0020g0005
a0003c0004t0003g0015
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0040
a0003c0004t0064g0042
a0003c0004t0071g0037
 8 HG01257.hp2
HG01516.hp2
HG01517.hp1
others(5): Show 
HG01257.hp2
HG01516.hp2
HG01517.hp1
HG02074.hp1
NA18906.hp1
NA18957.hp1
NA18984.hp1
NA19087.hp1
 intron_variant MODIFIER c.373-755_373-748dup
others(8): Show 
c.373-755_373-748dupCACACACA
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 5/21 chr17 656700
chr17:656700 A
A
 ATGTGTGT
others(5): Show 
ATGTGTGTGTGTG
 23 a0001c0002t0078g0041
a0003c0004t0003g0018
a0003c0004t0003g0036
others(20): Show 
a0001c0002t0078g0041
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0004g0021
a0003c0004t0004g0026
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0081g0035
 23 HG02109.hp1
HG03516.hp2
HG03831.hp2
others(20): Show 
HG02109.hp1
HG03516.hp2
HG03831.hp2
NA18945.hp1
NA18950.hp2
NA18959.hp1
NA18961.hp2
NA18962.hp1
NA18977.hp1
NA18978.hp1
NA18986.hp2
NA18990.hp1
NA18994.hp1
NA19011.hp2
NA19060.hp1
NA19064.hp1
NA19068.hp1
NA19080.hp1
NA19081.hp1
NA19087.hp2
NA19091.hp2
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.373-759_373-748dup
others(12): Show 
c.373-759_373-748dupCACACACACACA
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 5/21 chr17 656700
chr17:656700 A
A
 ATGTGTGT
others(11): Show 
ATGTGTGTGTGTGTGTGTG
 1 a0003c0004t0004g0025
a0003c0004t0004g0025
 1 NA18612.hp2
NA18612.hp2
 intron_variant MODIFIER c.373-765_373-748dup
others(18): Show 
c.373-765_373-748dupCACACACACACACACACA
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 5/21 chr17 656700
chr17:656700 A
A
 G
G
 5 a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
others(2): Show 
a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0005t0080g0092
a0001c0011t0051g0091
 5 HG01074.hp2
NA18747.hp2
NA18955.hp2
others(2): Show 
HG01074.hp2
NA18747.hp2
NA18955.hp2
NA18984.hp2
NA19064.hp2
 intron_variant MODIFIER c.373-747T>C
c.373-747T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 5/21 chr17 656700
chr17:656700 ATG
ATG
 A
A
 68 a0001c0001t0017g0158
a0001c0001t0032g0204
a0001c0001t0033g0205
others(65): Show 
a0001c0001t0017g0158
a0001c0001t0032g0204
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0034g0162
a0001c0001t0084g0046
a0001c0001t0095g0145
a0001c0001t0107g0212
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0122g0160
a0001c0001t0127g0159
a0001c0001t0138g0161
a0001c0001t0141g0165
a0001c0002t0017g0225
a0001c0002t0035g0219
a0001c0002t0038g0224
a0001c0002t0050g0049
a0001c0002t0100g0223
a0001c0002t0109g0222
a0001c0002t0125g0116
a0001c0002t0143g0226
a0001c0014t0135g0166
a0001c0015t0126g0149
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0017g0179
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0018g0231
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0085g0184
a0002c0003t0089g0175
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0099g0192
a0002c0003t0104g0208
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0145g0187
a0002c0003t0146g0170
a0002c0003t0148g0174
a0002c0003t0150g0191
a0002c0010t0038g0156
a0004c0008t0035g0203
a0004c0008t0036g0207
a0004c0008t0103g0227
a0004c0008t0124g0229
a0004c0008t0133g0232
a0004c0008t0142g0228
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
 68 HG00099.hp1
HG00140.hp1
HG00323.hp2
others(65): Show 
HG00099.hp1
HG00140.hp1
HG00323.hp2
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00621.hp1
HG00741.hp1
HG01070.hp2
HG01071.hp1
HG01099.hp1
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01255.hp2
HG01257.hp1
HG01258.hp2
HG01346.hp1
HG01516.hp1
HG01891.hp1
HG01928.hp1
HG01981.hp1
HG02040.hp1
HG02056.hp1
HG02074.hp2
HG02083.hp1
HG02129.hp1
HG02132.hp1
HG02280.hp1
HG02293.hp1
HG02300.hp1
HG02572.hp1
HG02723.hp1
HG02738.hp2
HG02886.hp2
HG02895.hp2
HG02922.hp1
HG03225.hp1
HG03491.hp2
HG03516.hp1
HG03831.hp1
HG03942.hp1
HG04184.hp1
HG04199.hp1
NA18612.hp1
NA18944.hp2
NA18946.hp1
NA18955.hp1
NA18957.hp2
NA18973.hp2
NA18979.hp2
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA18990.hp2
NA19000.hp1
NA19007.hp2
NA19010.hp1
NA19011.hp1
NA19066.hp1
NA19066.hp2
NA19074.hp1
NA19080.hp2
NA19084.hp2
NA19090.hp2
NA20129.hp1
NA20300.hp2
NA21309.hp1
 intron_variant MODIFIER c.373-749_373-748del
others(2): Show 
c.373-749_373-748delCA
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 5/21 chr17 656700
chr17:656700 ATGTG
ATGTG
 A
A
 49 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(46): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0032g0114
a0001c0001t0034g0126
a0001c0001t0069g0012
a0001c0001t0094g0129
a0001c0001t0098g0147
a0001c0001t0106g0117
a0001c0001t0108g0148
a0001c0001t0110g0127
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0123g0123
a0001c0001t0128g0132
a0001c0002t0001g0082
a0001c0002t0082g0069
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0002c0003t0073g0068
a0006c0012t0129g0140
 49 HG00423.hp2
HG00741.hp2
HG01081.hp2
others(46): Show 
HG00423.hp2
HG00741.hp2
HG01081.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01256.hp2
HG01361.hp2
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp2
HG01928.hp2
HG01978.hp2
HG02040.hp2
HG02056.hp2
HG02083.hp2
HG02109.hp2
HG02129.hp2
HG02132.hp2
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02602.hp2
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG03492.hp2
HG03688.hp2
HG04184.hp2
HG04199.hp2
NA18940.hp2
NA18945.hp2
NA18950.hp1
NA18961.hp1
NA18967.hp2
NA18977.hp2
NA18978.hp2
NA18983.hp2
NA18987.hp2
NA19009.hp2
NA19060.hp2
NA19065.hp2
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19081.hp2
 intron_variant MODIFIER c.373-751_373-748del
others(4): Show 
c.373-751_373-748delCACA
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 5/21 chr17 656700
chr17:656700 ATGTGTG
ATGTGTG
 A
A
 50 a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
others(47): Show 
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0090
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0079g0086
a0001c0002t0083g0067
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0016t0052g0099
 50 HG00099.hp2
HG00140.hp2
HG00280.hp1
others(47): Show 
HG00099.hp2
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00621.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01099.hp2
HG01106.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01361.hp1
HG01496.hp1
HG01515.hp2
HG01978.hp1
HG01981.hp2
HG02135.hp1
HG02738.hp1
HG03491.hp1
HG03492.hp1
HG03688.hp1
HG04204.hp2
NA18906.hp2
NA18940.hp1
NA18944.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18959.hp2
NA18960.hp1
NA18962.hp2
NA18967.hp1
NA18973.hp1
NA18979.hp1
NA19007.hp1
NA19009.hp1
NA19065.hp1
NA19070.hp1
NA19084.hp1
NA19090.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.373-753_373-748del
others(6): Show 
c.373-753_373-748delCACACA
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 5/21 chr17 656700
chr17:656700 ATGTGTGT
others(3): Show 
ATGTGTGTGTG
 A
A
 1 a0001c0001t0096g0146
a0001c0001t0096g0146
 1 HG03225.hp2
HG03225.hp2
 intron_variant MODIFIER c.373-757_373-748del
others(10): Show 
c.373-757_373-748delCACACACACA
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 5/21 chr17 656700
chr17:656700 ATGTGTGT
others(5): Show 
ATGTGTGTGTGTG
 A
A
 15 a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
others(12): Show 
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0097g0199
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0105g0201
a0001c0001t0118g0195
a0001c0001t0134g0154
a0001c0002t0149g0202
 15 HG01109.hp2
HG01346.hp2
HG01884.hp1
others(12): Show 
HG01109.hp2
HG01346.hp2
HG01884.hp1
HG01891.hp2
HG02572.hp2
HG02622.hp1
HG02622.hp2
HG02723.hp2
HG02818.hp1
HG02922.hp2
HG03139.hp1
HG03139.hp2
HG03942.hp2
NA20129.hp2
NA20300.hp1
 intron_variant MODIFIER c.373-759_373-748del
others(12): Show 
c.373-759_373-748delCACACACACACA
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 5/21 chr17 656700
chr17:656744 CATT
CATT
 C
C
 15 a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
others(12): Show 
a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0002t0078g0041
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0011t0051g0091
 15 HG01074.hp2
HG02135.hp2
HG02602.hp1
others(12): Show 
HG01074.hp2
HG02135.hp2
HG02602.hp1
HG03516.hp2
NA18747.hp1
NA18747.hp2
NA18955.hp2
NA18960.hp2
NA18984.hp2
NA18994.hp2
NA19000.hp2
NA19010.hp2
NA19064.hp2
NA19087.hp1
NA19091.hp1
 intron_variant MODIFIER c.373-794_373-792del
others(3): Show 
c.373-794_373-792delAAT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 5/21 chr17 656744
chr17:656769 T
T
 C
C
 7 a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
others(4): Show 
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
 7 HG01257.hp2
HG01516.hp2
HG01517.hp1
others(4): Show 
HG01257.hp2
HG01516.hp2
HG01517.hp1
HG02109.hp1
NA18906.hp1
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.373-816A>G
c.373-816A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 5/21 chr17 656769
chr17:656868 G
G
 A
A
 14 a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
others(11): Show 
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0097g0199
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0105g0201
a0001c0001t0118g0195
a0001c0001t0134g0154
 14 HG01109.hp2
HG01346.hp2
HG01884.hp1
others(11): Show 
HG01109.hp2
HG01346.hp2
HG01884.hp1
HG01891.hp2
HG02572.hp2
HG02622.hp1
HG02622.hp2
HG02723.hp2
HG02818.hp1
HG02922.hp2
HG03139.hp1
HG03139.hp2
NA20129.hp2
NA20300.hp1
 intron_variant MODIFIER c.373-915C>T
c.373-915C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 5/21 chr17 656868
chr17:656981 G
G
 A
A
 30 a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
others(27): Show 
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
 30 HG01257.hp2
HG01516.hp2
HG01517.hp1
others(27): Show 
HG01257.hp2
HG01516.hp2
HG01517.hp1
HG02074.hp1
HG02109.hp1
HG03831.hp2
NA18612.hp2
NA18906.hp1
NA18945.hp1
NA18950.hp2
NA18957.hp1
NA18959.hp1
NA18961.hp2
NA18962.hp1
NA18977.hp1
NA18978.hp1
NA18984.hp1
NA18986.hp2
NA18990.hp1
NA18994.hp1
NA19011.hp2
NA19060.hp1
NA19064.hp1
NA19068.hp1
NA19080.hp1
NA19081.hp1
NA19087.hp2
NA19091.hp2
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.373-1028C>T
c.373-1028C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 5/21 chr17 656981
chr17:657165 C
C
 T
T
 1 a0007c0013t0132g0163
a0007c0013t0132g0163
 1 HG04204.hp1
HG04204.hp1
 intron_variant MODIFIER c.373-1212G>A
c.373-1212G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 5/21 chr17 657165
chr17:657183 T
T
 C
C
 3 a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0106g0117
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0106g0117
 3 HG01884.hp2
HG02109.hp2
HG02280.hp2
HG01884.hp2
HG02109.hp2
HG02280.hp2
 intron_variant MODIFIER c.373-1230A>G
c.373-1230A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 5/21 chr17 657183
chr17:657359 G
G
 A
A
 1 a0001c0001t0101g0200
a0001c0001t0101g0200
 1 HG03139.hp1
HG03139.hp1
 intron_variant MODIFIER c.373-1406C>T
c.373-1406C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 5/21 chr17 657359
chr17:657364 T
T
 C
C
 53 a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
others(50): Show 
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0016t0052g0099
a0002c0003t0073g0068
 53 HG00099.hp2
HG00140.hp2
HG00280.hp1
others(50): Show 
HG00099.hp2
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00621.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01099.hp2
HG01106.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01361.hp1
HG01496.hp1
HG01515.hp2
HG01978.hp1
HG01981.hp2
HG02135.hp1
HG02738.hp1
HG02886.hp1
HG03491.hp1
HG03492.hp1
HG03688.hp1
HG04204.hp2
NA18906.hp2
NA18940.hp1
NA18944.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18959.hp2
NA18960.hp1
NA18962.hp2
NA18967.hp1
NA18973.hp1
NA18977.hp2
NA18979.hp1
NA19007.hp1
NA19009.hp1
NA19065.hp1
NA19070.hp1
NA19079.hp1
NA19084.hp1
NA19090.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.373-1411A>G
c.373-1411A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 5/21 chr17 657364
chr17:657430 C
C
 T
T
 3 a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0134g0154
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0134g0154
 3 HG01891.hp2
NA20129.hp2
NA20300.hp1
HG01891.hp2
NA20129.hp2
NA20300.hp1
 intron_variant MODIFIER c.373-1477G>A
c.373-1477G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 5/21 chr17 657430
chr17:657611 T
T
 C
C
 42 a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
others(39): Show 
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0002c0003t0073g0068
 42 HG00140.hp2
HG00280.hp1
HG00323.hp1
others(39): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp1
HG00621.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01106.hp1
HG01167.hp2
HG01168.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01361.hp1
HG01496.hp1
HG01978.hp1
HG02135.hp1
HG02738.hp1
HG02886.hp1
HG04204.hp2
NA18906.hp2
NA18940.hp1
NA18944.hp1
NA18946.hp2
NA18948.hp2
NA18959.hp2
NA18960.hp1
NA18962.hp2
NA18967.hp1
NA18973.hp1
NA18977.hp2
NA18979.hp1
NA19007.hp1
NA19009.hp1
NA19065.hp1
NA19070.hp1
NA19079.hp1
NA19084.hp1
NA19090.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.373-1658A>G
c.373-1658A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 5/21 chr17 657611
chr17:657622 T
T
 A
A
 5 a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
others(2): Show 
a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0005t0080g0092
a0001c0011t0051g0091
 5 HG01074.hp2
NA18747.hp2
NA18955.hp2
others(2): Show 
HG01074.hp2
NA18747.hp2
NA18955.hp2
NA18984.hp2
NA19064.hp2
 intron_variant MODIFIER c.373-1669A>T
c.373-1669A>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 5/21 chr17 657622
chr17:657747 C
C
 A
A
 6 a0001c0002t0001g0056
a0001c0002t0001g0082
a0001c0002t0003g0053
others(3): Show 
a0001c0002t0001g0056
a0001c0002t0001g0082
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0014g0055
a0001c0002t0014g0074
 6 HG01071.hp2
HG01074.hp1
HG01167.hp2
others(3): Show 
HG01071.hp2
HG01074.hp1
HG01167.hp2
HG01255.hp1
HG02886.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.373-1794G>T
c.373-1794G>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 5/21 chr17 657747
chr17:657814 A
A
 G
G
 1 a0001c0001t0084g0046
a0001c0001t0084g0046
 1 HG03516.hp1
HG03516.hp1
 intron_variant MODIFIER c.373-1861T>C
c.373-1861T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 5/21 chr17 657814
chr17:657911 C
C
 T
T
 3 a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0106g0117
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0106g0117
 3 HG01884.hp2
HG02109.hp2
HG02280.hp2
HG01884.hp2
HG02109.hp2
HG02280.hp2
 intron_variant MODIFIER c.373-1958G>A
c.373-1958G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 5/21 chr17 657911
chr17:657938 C
C
 A
A
 1 a0001c0001t0032g0114
a0001c0001t0032g0114
 1 HG02895.hp1
HG02895.hp1
 intron_variant MODIFIER c.373-1985G>T
c.373-1985G>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 5/21 chr17 657938
chr17:657939 GCACTAAA
others(85): Show 
GCACTAAAGTGAGAAACTCGGCAGGGAGTTCGTGGATAGATACATCCCAC
TAAAGTGAGATACTCGGCCGTGAGTTCGTGGATAGATACATCC
 G
G
 130 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(127): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0017g0158
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0032g0114
a0001c0001t0032g0204
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0034g0126
a0001c0001t0034g0162
a0001c0001t0069g0012
a0001c0001t0084g0046
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0097g0199
a0001c0001t0098g0147
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0105g0201
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0108g0148
a0001c0001t0110g0127
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0118g0195
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0122g0160
a0001c0001t0123g0123
a0001c0001t0127g0159
a0001c0001t0128g0132
a0001c0001t0134g0154
a0001c0001t0138g0161
a0001c0001t0141g0165
a0001c0002t0017g0225
a0001c0002t0035g0219
a0001c0002t0038g0224
a0001c0002t0050g0049
a0001c0002t0086g0221
a0001c0002t0100g0223
a0001c0002t0109g0222
a0001c0002t0125g0116
a0001c0002t0143g0226
a0001c0002t0149g0202
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0001c0015t0126g0149
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0017g0179
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0018g0231
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0085g0184
a0002c0003t0089g0175
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0099g0192
a0002c0003t0104g0208
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0145g0187
a0002c0003t0146g0170
a0002c0003t0148g0174
a0002c0003t0150g0191
a0002c0010t0038g0156
a0004c0008t0035g0203
a0004c0008t0036g0207
a0004c0008t0103g0227
a0004c0008t0124g0229
a0004c0008t0133g0232
a0004c0008t0142g0228
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
a0006c0012t0129g0140
a0007c0013t0132g0163
 130 HG00099.hp1
HG00140.hp1
HG00323.hp2
others(127): Show 
HG00099.hp1
HG00140.hp1
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00621.hp1
HG00741.hp1
HG00741.hp2
HG01070.hp2
HG01071.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp2
HG01496.hp2
HG01515.hp1
HG01516.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01978.hp2
HG01981.hp1
HG02040.hp1
HG02040.hp2
HG02056.hp1
HG02056.hp2
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02145.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02572.hp2
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03491.hp2
HG03492.hp2
HG03516.hp1
HG03688.hp2
HG03831.hp1
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
NA18612.hp1
NA18940.hp2
NA18944.hp2
NA18945.hp2
NA18946.hp1
NA18950.hp1
NA18955.hp1
NA18957.hp2
NA18961.hp1
NA18967.hp2
NA18973.hp2
NA18978.hp2
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18986.hp1
NA18987.hp1
NA18990.hp2
NA19000.hp1
NA19007.hp2
NA19009.hp2
NA19010.hp1
NA19011.hp1
NA19060.hp2
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp2
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp2
NA19080.hp2
NA19081.hp2
NA19084.hp2
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA21309.hp1
 intron_variant MODIFIER c.373-2078_373-1987d
others(94): Show 
c.373-2078_373-1987delGGATGTATCTATCCACGAACTCACGGCC
GAGTATCTCACTTTAGTGGGATGTATCTATCCACGAACTCCCTGCCGAGT
TTCTCACTTTAGTG
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 5/21 chr17 657939
chr17:658036 A
A
 G
G
 1 a0001c0001t0084g0046
a0001c0001t0084g0046
 1 HG03516.hp1
HG03516.hp1
 intron_variant MODIFIER c.373-2083T>C
c.373-2083T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 5/21 chr17 658036
chr17:658055 G
G
 GGAGTTCG
others(131): Show 
GGAGTTCGTGGATAGTTACATCCCACTAAAGTGAGAAACTCAGCAGGGAG
TTCGTGGATAGATACATCCCACTAAAGTGAGAAACTCAGCCGTGAGTTCG
TGGATAGATACATCCCACTGAAGTGAGACACTCGGCCGT
 2 a0001c0002t0055g0084
a0001c0006t0068g0098
a0001c0002t0055g0084
a0001c0006t0068g0098
 2 NA18906.hp2
NA18948.hp1
NA18906.hp2
NA18948.hp1
 intron_variant MODIFIER c.373-2103_373-2102i
others(140): Show 
c.373-2103_373-2102insACGGCCGAGTGTCTCACTTCAGTGGGAT
GTATCTATCCACGAACTCACGGCTGAGTTTCTCACTTTAGTGGGATGTAT
CTATCCACGAACTCCCTGCTGAGTTTCTCACTTTAGTGGGATGTAACTAT
CCACGAACTC
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 5/21 chr17 658055
chr17:658055 GGAGTTCG
others(39): Show 
GGAGTTCGTGGATAGATACATCCCACTAAAGTGAGATACTCGGCCGT
 G
G
 41 a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
others(38): Show 
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0058g0052
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0002c0003t0073g0068
 41 HG00140.hp2
HG00280.hp1
HG00323.hp1
others(38): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp1
HG00621.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01106.hp1
HG01167.hp2
HG01168.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01361.hp1
HG01496.hp1
HG01978.hp1
HG02135.hp1
HG02738.hp1
HG02886.hp1
HG04204.hp2
NA18940.hp1
NA18944.hp1
NA18946.hp2
NA18948.hp2
NA18959.hp2
NA18960.hp1
NA18962.hp2
NA18967.hp1
NA18973.hp1
NA18977.hp2
NA18979.hp1
NA19007.hp1
NA19009.hp1
NA19065.hp1
NA19070.hp1
NA19079.hp1
NA19084.hp1
NA19090.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.373-2148_373-2103d
others(48): Show 
c.373-2148_373-2103delACGGCCGAGTATCTCACTTTAGTGGGAT
GTATCTATCCACGAACTC
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 5/21 chr17 658055
chr17:658070 A
A
 T
T
 57 a0001c0001t0119g0144
a0001c0002t0001g0094
a0001c0002t0065g0093
others(54): Show 
a0001c0001t0119g0144
a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0002t0078g0041
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0074g0097
a0001c0011t0051g0091
a0001c0014t0135g0166
a0001c0016t0052g0099
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
 57 HG00099.hp2
HG00280.hp2
HG01074.hp2
others(54): Show 
HG00099.hp2
HG00280.hp2
HG01074.hp2
HG01099.hp2
HG01168.hp2
HG01175.hp1
HG01257.hp2
HG01515.hp2
HG01516.hp2
HG01517.hp1
HG01981.hp2
HG02074.hp1
HG02109.hp1
HG02135.hp2
HG02572.hp1
HG02602.hp1
HG03491.hp1
HG03492.hp1
HG03516.hp2
HG03688.hp1
HG03831.hp2
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18945.hp1
NA18950.hp2
NA18955.hp2
NA18957.hp1
NA18959.hp1
NA18960.hp2
NA18961.hp2
NA18962.hp1
NA18977.hp1
NA18978.hp1
NA18984.hp1
NA18984.hp2
NA18986.hp2
NA18987.hp2
NA18990.hp1
NA18994.hp1
NA18994.hp2
NA19000.hp2
NA19010.hp2
NA19011.hp2
NA19060.hp1
NA19064.hp1
NA19064.hp2
NA19068.hp1
NA19080.hp1
NA19081.hp1
NA19087.hp1
NA19087.hp2
NA19091.hp1
NA19091.hp2
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.373-2117T>A
c.373-2117T>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 5/21 chr17 658070
chr17:658076 CCCACTAA
others(84): Show 
CCCACTAAAGTGAGATACTCGGCCGTGAGTTCGTGGATAGATACATCCCA
CTAAAGTGAGAAACTCGGCAGGGAGTTCGTGGATAGTTACAT
 C
C
 1 a0001c0001t0119g0144
a0001c0001t0119g0144
 1 NA18987.hp2
NA18987.hp2
 intron_variant MODIFIER c.373-2214_373-2124d
others(93): Show 
c.373-2214_373-2124delATGTAACTATCCACGAACTCCCTGCCGA
GTTTCTCACTTTAGTGGGATGTATCTATCCACGAACTCACGGCCGAGTAT
CTCACTTTAGTGG
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 5/21 chr17 658076
chr17:658082 A
A
 G
G
 2 a0001c0002t0055g0084
a0001c0006t0068g0098
a0001c0002t0055g0084
a0001c0006t0068g0098
 2 NA18906.hp2
NA18948.hp1
NA18906.hp2
NA18948.hp1
 intron_variant MODIFIER c.373-2129T>C
c.373-2129T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 5/21 chr17 658082
chr17:658091 T
T
 A
A
 58 a0001c0002t0001g0094
a0001c0002t0055g0084
a0001c0002t0065g0093
others(55): Show 
a0001c0002t0001g0094
a0001c0002t0055g0084
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0002t0078g0041
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0011t0051g0091
a0001c0014t0135g0166
a0001c0016t0052g0099
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
 58 HG00099.hp2
HG00280.hp2
HG01074.hp2
others(55): Show 
HG00099.hp2
HG00280.hp2
HG01074.hp2
HG01099.hp2
HG01168.hp2
HG01175.hp1
HG01257.hp2
HG01515.hp2
HG01516.hp2
HG01517.hp1
HG01981.hp2
HG02074.hp1
HG02109.hp1
HG02135.hp2
HG02572.hp1
HG02602.hp1
HG03491.hp1
HG03492.hp1
HG03516.hp2
HG03688.hp1
HG03831.hp2
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18945.hp1
NA18948.hp1
NA18950.hp2
NA18955.hp2
NA18957.hp1
NA18959.hp1
NA18960.hp2
NA18961.hp2
NA18962.hp1
NA18977.hp1
NA18978.hp1
NA18984.hp1
NA18984.hp2
NA18986.hp2
NA18990.hp1
NA18994.hp1
NA18994.hp2
NA19000.hp2
NA19010.hp2
NA19011.hp2
NA19060.hp1
NA19064.hp1
NA19064.hp2
NA19068.hp1
NA19080.hp1
NA19081.hp1
NA19087.hp1
NA19087.hp2
NA19091.hp1
NA19091.hp2
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.373-2138A>T
c.373-2138A>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 5/21 chr17 658091
chr17:658095 C
C
 CAGCAGGG
others(270): Show 
CAGCAGGGAGTTCGTGGATAGATACATCCCACTGAAGTGAGACACTCGGC
CGTGAGTTCGTGGATAGATAACATCCCACTAAAGTGAGAAACTCGGCCGT
GAGTTCGTGGATAGATACATCCCACTGAAGTGAGACACTCGGCCGTGAGT
TCGTGGATAGATACATCCCACTGAAGTGAGAAACTCGGCCGTGAGTTCGT
GGATAGATACATCCCACTGAAGTGAGAAACTCGGCCGTGAGTTCGTGGAT
AGATACATCCCACTGAAGTGAGAAACTT
 1 a0001c0014t0135g0166
a0001c0014t0135g0166
 1 HG02572.hp1
HG02572.hp1
 intron_variant MODIFIER c.373-2143_373-2142i
others(279): Show 
c.373-2143_373-2142insAAGTTTCTCACTTCAGTGGGATGTATCT
ATCCACGAACTCACGGCCGAGTTTCTCACTTCAGTGGGATGTATCTATCC
ACGAACTCACGGCCGAGTTTCTCACTTCAGTGGGATGTATCTATCCACGA
ACTCACGGCCGAGTGTCTCACTTCAGTGGGATGTATCTATCCACGAACTC
ACGGCCGAGTTTCTCACTTTAGTGGGATGTTATCTATCCACGAACTCACG
GCCGAGTGTCTCACTTCAGTGGGATGTATCTATCCACGAACTCCCTGCT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 5/21 chr17 658095
chr17:658096 G
G
 A
A
 55 a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
others(52): Show 
a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0002t0078g0041
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0074g0097
a0001c0011t0051g0091
a0001c0016t0052g0099
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
 55 HG00099.hp2
HG00280.hp2
HG01074.hp2
others(52): Show 
HG00099.hp2
HG00280.hp2
HG01074.hp2
HG01099.hp2
HG01168.hp2
HG01175.hp1
HG01257.hp2
HG01515.hp2
HG01516.hp2
HG01517.hp1
HG01981.hp2
HG02074.hp1
HG02109.hp1
HG02135.hp2
HG02602.hp1
HG03491.hp1
HG03492.hp1
HG03516.hp2
HG03688.hp1
HG03831.hp2
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18945.hp1
NA18950.hp2
NA18955.hp2
NA18957.hp1
NA18959.hp1
NA18960.hp2
NA18961.hp2
NA18962.hp1
NA18977.hp1
NA18978.hp1
NA18984.hp1
NA18984.hp2
NA18986.hp2
NA18990.hp1
NA18994.hp1
NA18994.hp2
NA19000.hp2
NA19010.hp2
NA19011.hp2
NA19060.hp1
NA19064.hp1
NA19064.hp2
NA19068.hp1
NA19080.hp1
NA19081.hp1
NA19087.hp1
NA19087.hp2
NA19091.hp1
NA19091.hp2
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.373-2143C>T
c.373-2143C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 5/21 chr17 658096
chr17:658099 C
C
 A
A
 55 a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
others(52): Show 
a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0002t0078g0041
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0074g0097
a0001c0011t0051g0091
a0001c0016t0052g0099
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
 55 HG00099.hp2
HG00280.hp2
HG01074.hp2
others(52): Show 
HG00099.hp2
HG00280.hp2
HG01074.hp2
HG01099.hp2
HG01168.hp2
HG01175.hp1
HG01257.hp2
HG01515.hp2
HG01516.hp2
HG01517.hp1
HG01981.hp2
HG02074.hp1
HG02109.hp1
HG02135.hp2
HG02602.hp1
HG03491.hp1
HG03492.hp1
HG03516.hp2
HG03688.hp1
HG03831.hp2
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18945.hp1
NA18950.hp2
NA18955.hp2
NA18957.hp1
NA18959.hp1
NA18960.hp2
NA18961.hp2
NA18962.hp1
NA18977.hp1
NA18978.hp1
NA18984.hp1
NA18984.hp2
NA18986.hp2
NA18990.hp1
NA18994.hp1
NA18994.hp2
NA19000.hp2
NA19010.hp2
NA19011.hp2
NA19060.hp1
NA19064.hp1
NA19064.hp2
NA19068.hp1
NA19080.hp1
NA19081.hp1
NA19087.hp1
NA19087.hp2
NA19091.hp1
NA19091.hp2
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.373-2146G>T
c.373-2146G>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 5/21 chr17 658099
chr17:658101 T
T
 G
G
 55 a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
others(52): Show 
a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0002t0078g0041
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0074g0097
a0001c0011t0051g0091
a0001c0016t0052g0099
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
 55 HG00099.hp2
HG00280.hp2
HG01074.hp2
others(52): Show 
HG00099.hp2
HG00280.hp2
HG01074.hp2
HG01099.hp2
HG01168.hp2
HG01175.hp1
HG01257.hp2
HG01515.hp2
HG01516.hp2
HG01517.hp1
HG01981.hp2
HG02074.hp1
HG02109.hp1
HG02135.hp2
HG02602.hp1
HG03491.hp1
HG03492.hp1
HG03516.hp2
HG03688.hp1
HG03831.hp2
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18945.hp1
NA18950.hp2
NA18955.hp2
NA18957.hp1
NA18959.hp1
NA18960.hp2
NA18961.hp2
NA18962.hp1
NA18977.hp1
NA18978.hp1
NA18984.hp1
NA18984.hp2
NA18986.hp2
NA18990.hp1
NA18994.hp1
NA18994.hp2
NA19000.hp2
NA19010.hp2
NA19011.hp2
NA19060.hp1
NA19064.hp1
NA19064.hp2
NA19068.hp1
NA19080.hp1
NA19081.hp1
NA19087.hp1
NA19087.hp2
NA19091.hp1
NA19091.hp2
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.373-2148A>C
c.373-2148A>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 5/21 chr17 658101
chr17:658108 G
G
 A
A
 2 a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0079
a0001c0002t0001g0080
 2 HG00280.hp1
HG00323.hp1
HG00280.hp1
HG00323.hp1
 intron_variant MODIFIER c.373-2155C>T
c.373-2155C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 5/21 chr17 658108
chr17:658116 A
A
 T
T
 41 a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
others(38): Show 
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0058g0052
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0002c0003t0073g0068
 41 HG00140.hp2
HG00280.hp1
HG00323.hp1
others(38): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp1
HG00621.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01106.hp1
HG01167.hp2
HG01168.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01361.hp1
HG01496.hp1
HG01978.hp1
HG02135.hp1
HG02738.hp1
HG02886.hp1
HG04204.hp2
NA18940.hp1
NA18944.hp1
NA18946.hp2
NA18948.hp2
NA18959.hp2
NA18960.hp1
NA18962.hp2
NA18967.hp1
NA18973.hp1
NA18977.hp2
NA18979.hp1
NA19007.hp1
NA19009.hp1
NA19065.hp1
NA19070.hp1
NA19079.hp1
NA19084.hp1
NA19090.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.373-2163T>A
c.373-2163T>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 5/21 chr17 658116
chr17:658117 TACATCCC
others(132): Show 
TACATCCCACTAAAGTGAGAAACTCGGCAGGGAGTTCGTGGATAGTTACA
TCCCACTAAAGTGAGAAACTCAGCAGGGAGTTCGTGGATAGATACATCCC
ATTGAAGTGAGACACTCGGCCGTGAGTTCGTGGATAGATA
 T
T
 1 a0003c0004t0006g0016
a0003c0004t0006g0016
 1 NA18962.hp1
NA18962.hp1
 intron_variant MODIFIER c.373-2303_373-2165d
others(2): Show 
c.373-2303_373-2165del
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 5/21 chr17 658117
chr17:658126 C
C
 G
G
 1 a0001c0002t0078g0041
a0001c0002t0078g0041
 1 HG03516.hp2
HG03516.hp2
 intron_variant MODIFIER c.373-2173G>C
c.373-2173G>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 5/21 chr17 658126
chr17:658128 A
A
 G
G
 3 a0001c0002t0055g0084
a0001c0006t0068g0098
a0001c0014t0135g0166
a0001c0002t0055g0084
a0001c0006t0068g0098
a0001c0014t0135g0166
 3 HG02572.hp1
NA18906.hp2
NA18948.hp1
HG02572.hp1
NA18906.hp2
NA18948.hp1
 intron_variant MODIFIER c.373-2175T>C
c.373-2175T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 5/21 chr17 658128
chr17:658142 G
G
 A
A
 95 a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
others(92): Show 
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0001g0094
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0058g0052
a0001c0002t0065g0093
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0077g0095
a0001c0002t0078g0041
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0074g0097
a0001c0011t0051g0091
a0001c0016t0052g0099
a0002c0003t0073g0068
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
 95 HG00099.hp2
HG00140.hp2
HG00280.hp1
others(92): Show 
HG00099.hp2
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00621.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01099.hp2
HG01106.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01255.hp1
HG01256.hp1
HG01257.hp2
HG01258.hp1
HG01361.hp1
HG01496.hp1
HG01515.hp2
HG01516.hp2
HG01517.hp1
HG01978.hp1
HG01981.hp2
HG02074.hp1
HG02109.hp1
HG02135.hp1
HG02135.hp2
HG02602.hp1
HG02738.hp1
HG02886.hp1
HG03491.hp1
HG03492.hp1
HG03516.hp2
HG03688.hp1
HG03831.hp2
HG04204.hp2
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18940.hp1
NA18944.hp1
NA18945.hp1
NA18946.hp2
NA18948.hp2
NA18950.hp2
NA18955.hp2
NA18957.hp1
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp2
NA18962.hp2
NA18967.hp1
NA18973.hp1
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18979.hp1
NA18984.hp1
NA18984.hp2
NA18986.hp2
NA18990.hp1
NA18994.hp1
NA18994.hp2
NA19000.hp2
NA19007.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp2
NA19060.hp1
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19068.hp1
NA19070.hp1
NA19079.hp1
NA19080.hp1
NA19081.hp1
NA19084.hp1
NA19087.hp1
NA19087.hp2
NA19090.hp1
NA19091.hp1
NA19091.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.373-2189C>T
c.373-2189C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 5/21 chr17 658142
chr17:658145 A
A
 C
C
 55 a0001c0002t0001g0094
a0001c0002t0055g0084
a0001c0002t0065g0093
others(52): Show 
a0001c0002t0001g0094
a0001c0002t0055g0084
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0002t0078g0041
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0074g0097
a0001c0011t0051g0091
a0001c0016t0052g0099
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
 55 HG00099.hp2
HG00280.hp2
HG01074.hp2
others(52): Show 
HG00099.hp2
HG00280.hp2
HG01074.hp2
HG01099.hp2
HG01168.hp2
HG01175.hp1
HG01257.hp2
HG01515.hp2
HG01516.hp2
HG01517.hp1
HG01981.hp2
HG02074.hp1
HG02109.hp1
HG02135.hp2
HG02602.hp1
HG03491.hp1
HG03492.hp1
HG03516.hp2
HG03688.hp1
HG03831.hp2
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18945.hp1
NA18950.hp2
NA18955.hp2
NA18957.hp1
NA18959.hp1
NA18960.hp2
NA18961.hp2
NA18977.hp1
NA18978.hp1
NA18984.hp1
NA18984.hp2
NA18986.hp2
NA18990.hp1
NA18994.hp1
NA18994.hp2
NA19000.hp2
NA19010.hp2
NA19011.hp2
NA19060.hp1
NA19064.hp1
NA19064.hp2
NA19068.hp1
NA19080.hp1
NA19081.hp1
NA19087.hp1
NA19087.hp2
NA19091.hp1
NA19091.hp2
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.373-2192T>G
c.373-2192T>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 5/21 chr17 658145
chr17:658147 G
G
 T
T
 55 a0001c0002t0001g0094
a0001c0002t0055g0084
a0001c0002t0065g0093
others(52): Show 
a0001c0002t0001g0094
a0001c0002t0055g0084
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0002t0078g0041
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0074g0097
a0001c0011t0051g0091
a0001c0016t0052g0099
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
 55 HG00099.hp2
HG00280.hp2
HG01074.hp2
others(52): Show 
HG00099.hp2
HG00280.hp2
HG01074.hp2
HG01099.hp2
HG01168.hp2
HG01175.hp1
HG01257.hp2
HG01515.hp2
HG01516.hp2
HG01517.hp1
HG01981.hp2
HG02074.hp1
HG02109.hp1
HG02135.hp2
HG02602.hp1
HG03491.hp1
HG03492.hp1
HG03516.hp2
HG03688.hp1
HG03831.hp2
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18945.hp1
NA18950.hp2
NA18955.hp2
NA18957.hp1
NA18959.hp1
NA18960.hp2
NA18961.hp2
NA18977.hp1
NA18978.hp1
NA18984.hp1
NA18984.hp2
NA18986.hp2
NA18990.hp1
NA18994.hp1
NA18994.hp2
NA19000.hp2
NA19010.hp2
NA19011.hp2
NA19060.hp1
NA19064.hp1
NA19064.hp2
NA19068.hp1
NA19080.hp1
NA19081.hp1
NA19087.hp1
NA19087.hp2
NA19091.hp1
NA19091.hp2
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.373-2194C>A
c.373-2194C>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 5/21 chr17 658147
chr17:658162 T
T
 A
A
 98 a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
others(95): Show 
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0001g0094
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0065g0093
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0077g0095
a0001c0002t0078g0041
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0011t0051g0091
a0001c0014t0135g0166
a0001c0016t0052g0099
a0002c0003t0073g0068
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
 98 HG00099.hp2
HG00140.hp2
HG00280.hp1
others(95): Show 
HG00099.hp2
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00621.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01099.hp2
HG01106.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01255.hp1
HG01256.hp1
HG01257.hp2
HG01258.hp1
HG01361.hp1
HG01496.hp1
HG01515.hp2
HG01516.hp2
HG01517.hp1
HG01978.hp1
HG01981.hp2
HG02074.hp1
HG02109.hp1
HG02135.hp1
HG02135.hp2
HG02572.hp1
HG02602.hp1
HG02738.hp1
HG02886.hp1
HG03491.hp1
HG03492.hp1
HG03516.hp2
HG03688.hp1
HG03831.hp2
HG04204.hp2
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18944.hp1
NA18945.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp2
NA18955.hp2
NA18957.hp1
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp2
NA18962.hp2
NA18967.hp1
NA18973.hp1
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18979.hp1
NA18984.hp1
NA18984.hp2
NA18986.hp2
NA18990.hp1
NA18994.hp1
NA18994.hp2
NA19000.hp2
NA19007.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp2
NA19060.hp1
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19068.hp1
NA19070.hp1
NA19079.hp1
NA19080.hp1
NA19081.hp1
NA19084.hp1
NA19087.hp1
NA19087.hp2
NA19090.hp1
NA19091.hp1
NA19091.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.373-2209A>T
c.373-2209A>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 5/21 chr17 658162
chr17:658169 C
C
 CCACCAAA
others(39): Show 
CCACCAAAGTGAGAAACTTGGCCGTGAGTTCTTGGATAGATACATCG
 1 a0001c0014t0135g0166
a0001c0014t0135g0166
 1 HG02572.hp1
HG02572.hp1
 intron_variant MODIFIER c.373-2217_373-2216i
others(48): Show 
c.373-2217_373-2216insCGATGTATCTATCCAAGAACTCACGGCC
AAGTTTCTCACTTTGGTG
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 5/21 chr17 658169
chr17:658174 A
A
 G
G
 56 a0001c0002t0001g0094
a0001c0002t0055g0084
a0001c0002t0065g0093
others(53): Show 
a0001c0002t0001g0094
a0001c0002t0055g0084
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0002t0078g0041
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0011t0051g0091
a0001c0016t0052g0099
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
 56 HG00099.hp2
HG00280.hp2
HG01074.hp2
others(53): Show 
HG00099.hp2
HG00280.hp2
HG01074.hp2
HG01099.hp2
HG01168.hp2
HG01175.hp1
HG01257.hp2
HG01515.hp2
HG01516.hp2
HG01517.hp1
HG01981.hp2
HG02074.hp1
HG02109.hp1
HG02135.hp2
HG02602.hp1
HG03491.hp1
HG03492.hp1
HG03516.hp2
HG03688.hp1
HG03831.hp2
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18945.hp1
NA18948.hp1
NA18950.hp2
NA18955.hp2
NA18957.hp1
NA18959.hp1
NA18960.hp2
NA18961.hp2
NA18977.hp1
NA18978.hp1
NA18984.hp1
NA18984.hp2
NA18986.hp2
NA18990.hp1
NA18994.hp1
NA18994.hp2
NA19000.hp2
NA19010.hp2
NA19011.hp2
NA19060.hp1
NA19064.hp1
NA19064.hp2
NA19068.hp1
NA19080.hp1
NA19081.hp1
NA19087.hp1
NA19087.hp2
NA19091.hp1
NA19091.hp2
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.373-2221T>C
c.373-2221T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 5/21 chr17 658174
chr17:658183 A
A
 C
C
 54 a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
others(51): Show 
a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0002t0078g0041
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0074g0097
a0001c0011t0051g0091
a0001c0016t0052g0099
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
 54 HG00099.hp2
HG00280.hp2
HG01074.hp2
others(51): Show 
HG00099.hp2
HG00280.hp2
HG01074.hp2
HG01099.hp2
HG01168.hp2
HG01175.hp1
HG01257.hp2
HG01515.hp2
HG01516.hp2
HG01517.hp1
HG01981.hp2
HG02074.hp1
HG02109.hp1
HG02135.hp2
HG02602.hp1
HG03491.hp1
HG03492.hp1
HG03516.hp2
HG03688.hp1
HG03831.hp2
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18945.hp1
NA18950.hp2
NA18955.hp2
NA18957.hp1
NA18959.hp1
NA18960.hp2
NA18961.hp2
NA18977.hp1
NA18978.hp1
NA18984.hp1
NA18984.hp2
NA18986.hp2
NA18990.hp1
NA18994.hp1
NA18994.hp2
NA19000.hp2
NA19010.hp2
NA19011.hp2
NA19060.hp1
NA19064.hp1
NA19064.hp2
NA19068.hp1
NA19080.hp1
NA19081.hp1
NA19087.hp1
NA19087.hp2
NA19091.hp1
NA19091.hp2
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.373-2230T>G
c.373-2230T>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 5/21 chr17 658183
chr17:658188 A
A
 G
G
 57 a0001c0002t0001g0094
a0001c0002t0055g0084
a0001c0002t0065g0093
others(54): Show 
a0001c0002t0001g0094
a0001c0002t0055g0084
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0002t0078g0041
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0011t0051g0091
a0001c0014t0135g0166
a0001c0016t0052g0099
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
 57 HG00099.hp2
HG00280.hp2
HG01074.hp2
others(54): Show 
HG00099.hp2
HG00280.hp2
HG01074.hp2
HG01099.hp2
HG01168.hp2
HG01175.hp1
HG01257.hp2
HG01515.hp2
HG01516.hp2
HG01517.hp1
HG01981.hp2
HG02074.hp1
HG02109.hp1
HG02135.hp2
HG02572.hp1
HG02602.hp1
HG03491.hp1
HG03492.hp1
HG03516.hp2
HG03688.hp1
HG03831.hp2
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18945.hp1
NA18948.hp1
NA18950.hp2
NA18955.hp2
NA18957.hp1
NA18959.hp1
NA18960.hp2
NA18961.hp2
NA18977.hp1
NA18978.hp1
NA18984.hp1
NA18984.hp2
NA18986.hp2
NA18990.hp1
NA18994.hp1
NA18994.hp2
NA19000.hp2
NA19010.hp2
NA19011.hp2
NA19060.hp1
NA19064.hp1
NA19064.hp2
NA19068.hp1
NA19080.hp1
NA19081.hp1
NA19087.hp1
NA19087.hp2
NA19091.hp1
NA19091.hp2
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.373-2235T>C
c.373-2235T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 5/21 chr17 658188
chr17:658191 A
A
 C
C
 97 a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
others(94): Show 
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0001g0094
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0065g0093
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0077g0095
a0001c0002t0078g0041
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0011t0051g0091
a0001c0016t0052g0099
a0002c0003t0073g0068
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
 97 HG00099.hp2
HG00140.hp2
HG00280.hp1
others(94): Show 
HG00099.hp2
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00621.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01099.hp2
HG01106.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01255.hp1
HG01256.hp1
HG01257.hp2
HG01258.hp1
HG01361.hp1
HG01496.hp1
HG01515.hp2
HG01516.hp2
HG01517.hp1
HG01978.hp1
HG01981.hp2
HG02074.hp1
HG02109.hp1
HG02135.hp1
HG02135.hp2
HG02602.hp1
HG02738.hp1
HG02886.hp1
HG03491.hp1
HG03492.hp1
HG03516.hp2
HG03688.hp1
HG03831.hp2
HG04204.hp2
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18944.hp1
NA18945.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp2
NA18955.hp2
NA18957.hp1
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp2
NA18962.hp2
NA18967.hp1
NA18973.hp1
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18979.hp1
NA18984.hp1
NA18984.hp2
NA18986.hp2
NA18990.hp1
NA18994.hp1
NA18994.hp2
NA19000.hp2
NA19007.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp2
NA19060.hp1
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19068.hp1
NA19070.hp1
NA19079.hp1
NA19080.hp1
NA19081.hp1
NA19084.hp1
NA19087.hp1
NA19087.hp2
NA19090.hp1
NA19091.hp1
NA19091.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.373-2238T>G
c.373-2238T>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 5/21 chr17 658191
chr17:658192 G
G
 A
A
 9 a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
others(6): Show 
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
 9 HG02135.hp2
HG02602.hp1
NA18747.hp1
others(6): Show 
HG02135.hp2
HG02602.hp1
NA18747.hp1
NA18960.hp2
NA18994.hp2
NA19000.hp2
NA19010.hp2
NA19087.hp1
NA19091.hp1
 intron_variant MODIFIER c.373-2239C>T
c.373-2239C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 5/21 chr17 658192
chr17:658193 G
G
 T
T
 97 a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
others(94): Show 
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0001g0094
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0065g0093
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0077g0095
a0001c0002t0078g0041
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0011t0051g0091
a0001c0016t0052g0099
a0002c0003t0073g0068
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
 97 HG00099.hp2
HG00140.hp2
HG00280.hp1
others(94): Show 
HG00099.hp2
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00621.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01099.hp2
HG01106.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01255.hp1
HG01256.hp1
HG01257.hp2
HG01258.hp1
HG01361.hp1
HG01496.hp1
HG01515.hp2
HG01516.hp2
HG01517.hp1
HG01978.hp1
HG01981.hp2
HG02074.hp1
HG02109.hp1
HG02135.hp1
HG02135.hp2
HG02602.hp1
HG02738.hp1
HG02886.hp1
HG03491.hp1
HG03492.hp1
HG03516.hp2
HG03688.hp1
HG03831.hp2
HG04204.hp2
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18944.hp1
NA18945.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp2
NA18955.hp2
NA18957.hp1
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp2
NA18962.hp2
NA18967.hp1
NA18973.hp1
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18979.hp1
NA18984.hp1
NA18984.hp2
NA18986.hp2
NA18990.hp1
NA18994.hp1
NA18994.hp2
NA19000.hp2
NA19007.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp2
NA19060.hp1
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19068.hp1
NA19070.hp1
NA19079.hp1
NA19080.hp1
NA19081.hp1
NA19084.hp1
NA19087.hp1
NA19087.hp2
NA19090.hp1
NA19091.hp1
NA19091.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.373-2240C>A
c.373-2240C>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 5/21 chr17 658193
chr17:658204 A
A
 G
G
 1 a0001c0014t0135g0166
a0001c0014t0135g0166
 1 HG02572.hp1
HG02572.hp1
 intron_variant MODIFIER c.373-2251T>C
c.373-2251T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 5/21 chr17 658204
chr17:658218 T
T
 C
C
 229 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(226): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0017g0158
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0032g0114
a0001c0001t0032g0204
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0034g0126
a0001c0001t0034g0162
a0001c0001t0069g0012
a0001c0001t0084g0046
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0097g0199
a0001c0001t0098g0147
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0105g0201
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0108g0148
a0001c0001t0110g0127
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0118g0195
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0122g0160
a0001c0001t0123g0123
a0001c0001t0127g0159
a0001c0001t0128g0132
a0001c0001t0134g0154
a0001c0001t0138g0161
a0001c0001t0141g0165
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0001g0094
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0017g0225
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0035g0219
a0001c0002t0038g0224
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0050g0049
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0065g0093
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0077g0095
a0001c0002t0078g0041
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0002t0086g0221
a0001c0002t0100g0223
a0001c0002t0109g0222
a0001c0002t0125g0116
a0001c0002t0143g0226
a0001c0002t0149g0202
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0001c0011t0051g0091
a0001c0014t0135g0166
a0001c0015t0126g0149
a0001c0016t0052g0099
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0017g0179
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0018g0231
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0073g0068
a0002c0003t0085g0184
a0002c0003t0089g0175
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0099g0192
a0002c0003t0104g0208
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0145g0187
a0002c0003t0146g0170
a0002c0003t0148g0174
a0002c0003t0150g0191
a0002c0010t0038g0156
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
a0004c0008t0035g0203
a0004c0008t0036g0207
a0004c0008t0103g0227
a0004c0008t0124g0229
a0004c0008t0133g0232
a0004c0008t0142g0228
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
a0006c0012t0129g0140
a0007c0013t0132g0163
 229 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(226): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00621.hp1
HG00621.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02056.hp1
HG02056.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18955.hp1
NA18955.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp2
NA18967.hp1
NA18967.hp2
NA18973.hp1
NA18973.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18990.hp1
NA18990.hp2
NA18994.hp1
NA18994.hp2
NA19000.hp1
NA19000.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19087.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.373-2265A>G
c.373-2265A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 5/21 chr17 658218
chr17:658220 G
G
 A
A
 1 a0001c0014t0135g0166
a0001c0014t0135g0166
 1 HG02572.hp1
HG02572.hp1
 intron_variant MODIFIER c.373-2267C>T
c.373-2267C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 5/21 chr17 658220
chr17:658229 C
C
 A
A
 55 a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
others(52): Show 
a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0002t0078g0041
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0011t0051g0091
a0001c0016t0052g0099
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
 55 HG00099.hp2
HG00280.hp2
HG01074.hp2
others(52): Show 
HG00099.hp2
HG00280.hp2
HG01074.hp2
HG01099.hp2
HG01168.hp2
HG01175.hp1
HG01257.hp2
HG01515.hp2
HG01516.hp2
HG01517.hp1
HG01981.hp2
HG02074.hp1
HG02109.hp1
HG02135.hp2
HG02602.hp1
HG03491.hp1
HG03492.hp1
HG03516.hp2
HG03688.hp1
HG03831.hp2
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18945.hp1
NA18948.hp1
NA18950.hp2
NA18955.hp2
NA18957.hp1
NA18959.hp1
NA18960.hp2
NA18961.hp2
NA18977.hp1
NA18978.hp1
NA18984.hp1
NA18984.hp2
NA18986.hp2
NA18990.hp1
NA18994.hp1
NA18994.hp2
NA19000.hp2
NA19010.hp2
NA19011.hp2
NA19060.hp1
NA19064.hp1
NA19064.hp2
NA19068.hp1
NA19080.hp1
NA19081.hp1
NA19087.hp1
NA19087.hp2
NA19091.hp1
NA19091.hp2
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.373-2276G>T
c.373-2276G>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 5/21 chr17 658229
chr17:658253 G
G
 A
A
 2 a0001c0001t0122g0160
a0001c0001t0138g0161
a0001c0001t0122g0160
a0001c0001t0138g0161
 2 HG01257.hp1
HG01258.hp2
HG01257.hp1
HG01258.hp2
 intron_variant MODIFIER c.373-2300C>T
c.373-2300C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 5/21 chr17 658253
chr17:658255 TA
TA
 T
T
 47 a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
others(44): Show 
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0039g0003
a0001c0006t0053g0102
a0001c0014t0135g0166
a0002c0003t0073g0068
 47 HG00099.hp2
HG00140.hp2
HG00280.hp1
others(44): Show 
HG00099.hp2
HG00140.hp2
HG00280.hp1
HG00323.hp1
HG00621.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01106.hp1
HG01167.hp2
HG01168.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01361.hp1
HG01496.hp1
HG01515.hp2
HG01978.hp1
HG02135.hp1
HG02572.hp1
HG02738.hp1
HG02886.hp1
HG03492.hp1
HG03688.hp1
HG04204.hp2
NA18906.hp2
NA18940.hp1
NA18944.hp1
NA18946.hp2
NA18948.hp2
NA18959.hp2
NA18960.hp1
NA18962.hp2
NA18967.hp1
NA18973.hp1
NA18977.hp2
NA18979.hp1
NA19007.hp1
NA19009.hp1
NA19065.hp1
NA19070.hp1
NA19079.hp1
NA19084.hp1
NA19090.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.373-2303delT
c.373-2303delT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 5/21 chr17 658255
chr17:658256 A
A
 ACATCCCA
others(38): Show 
ACATCCCACTGAAGTGAGAAACTCGGCAGGGAGTTCGTGGATAGAT
 7 a0001c0006t0021g0101
a0001c0006t0040g0002
a0001c0006t0041g0001
others(4): Show 
a0001c0006t0021g0101
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0016t0052g0099
 7 HG00280.hp2
HG01099.hp2
HG01168.hp2
others(4): Show 
HG00280.hp2
HG01099.hp2
HG01168.hp2
HG01175.hp1
HG01981.hp2
HG03491.hp1
NA18948.hp1
 intron_variant MODIFIER c.373-2304_373-2303i
others(47): Show 
c.373-2304_373-2303insATCTATCCACGAACTCCCTGCCGAGTTT
CTCACTTCAGTGGGATG
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 5/21 chr17 658256
chr17:658267 A
A
 G
G
 54 a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
others(51): Show 
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0014t0135g0166
a0001c0016t0052g0099
a0002c0003t0073g0068
 54 HG00099.hp2
HG00140.hp2
HG00280.hp1
others(51): Show 
HG00099.hp2
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00621.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01099.hp2
HG01106.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01361.hp1
HG01496.hp1
HG01515.hp2
HG01978.hp1
HG01981.hp2
HG02135.hp1
HG02572.hp1
HG02738.hp1
HG02886.hp1
HG03491.hp1
HG03492.hp1
HG03688.hp1
HG04204.hp2
NA18906.hp2
NA18940.hp1
NA18944.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18959.hp2
NA18960.hp1
NA18962.hp2
NA18967.hp1
NA18973.hp1
NA18977.hp2
NA18979.hp1
NA19007.hp1
NA19009.hp1
NA19065.hp1
NA19070.hp1
NA19079.hp1
NA19084.hp1
NA19090.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.373-2314T>C
c.373-2314T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 5/21 chr17 658267
chr17:658276 A
A
 C
C
 2 a0001c0014t0135g0166
a0003c0004t0006g0016
a0001c0014t0135g0166
a0003c0004t0006g0016
 2 HG02572.hp1
NA18962.hp1
HG02572.hp1
NA18962.hp1
 intron_variant MODIFIER c.373-2323T>G
c.373-2323T>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 5/21 chr17 658276
chr17:658292 C
C
 T
T
 4 a0002c0003t0036g0176
a0002c0003t0131g0193
a0002c0003t0140g0194
others(1): Show 
a0002c0003t0036g0176
a0002c0003t0131g0193
a0002c0003t0140g0194
a0002c0003t0144g0215
 4 HG00323.hp2
HG01070.hp2
HG01071.hp1
others(1): Show 
HG00323.hp2
HG01070.hp2
HG01071.hp1
HG02738.hp2
 intron_variant MODIFIER c.373-2339G>A
c.373-2339G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 5/21 chr17 658292
chr17:658322 C
C
 A
A
 53 a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
others(50): Show 
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0016t0052g0099
a0002c0003t0073g0068
 53 HG00099.hp2
HG00140.hp2
HG00280.hp1
others(50): Show 
HG00099.hp2
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00621.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01099.hp2
HG01106.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01361.hp1
HG01496.hp1
HG01515.hp2
HG01978.hp1
HG01981.hp2
HG02135.hp1
HG02738.hp1
HG02886.hp1
HG03491.hp1
HG03492.hp1
HG03688.hp1
HG04204.hp2
NA18906.hp2
NA18940.hp1
NA18944.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18959.hp2
NA18960.hp1
NA18962.hp2
NA18967.hp1
NA18973.hp1
NA18977.hp2
NA18979.hp1
NA19007.hp1
NA19009.hp1
NA19065.hp1
NA19070.hp1
NA19079.hp1
NA19084.hp1
NA19090.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.373-2369G>T
c.373-2369G>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 5/21 chr17 658322
chr17:658377 G
G
 T
T
 29 a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
others(26): Show 
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
 29 HG01257.hp2
HG01516.hp2
HG01517.hp1
others(26): Show 
HG01257.hp2
HG01516.hp2
HG01517.hp1
HG02074.hp1
HG02109.hp1
HG03831.hp2
NA18612.hp2
NA18906.hp1
NA18945.hp1
NA18950.hp2
NA18957.hp1
NA18959.hp1
NA18961.hp2
NA18977.hp1
NA18978.hp1
NA18984.hp1
NA18986.hp2
NA18990.hp1
NA18994.hp1
NA19011.hp2
NA19060.hp1
NA19064.hp1
NA19068.hp1
NA19080.hp1
NA19081.hp1
NA19087.hp2
NA19091.hp2
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.373-2424C>A
c.373-2424C>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 5/21 chr17 658377
chr17:658399 C
C
 T
T
 4 a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
others(1): Show 
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0094g0129
 4 HG00423.hp2
NA18950.hp1
NA18961.hp1
others(1): Show 
HG00423.hp2
NA18950.hp1
NA18961.hp1
NA19060.hp2
 intron_variant MODIFIER c.373-2446G>A
c.373-2446G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 5/21 chr17 658399
chr17:658405 G
G
 A
A
 1 a0003c0004t0006g0016
a0003c0004t0006g0016
 1 NA18962.hp1
NA18962.hp1
 intron_variant MODIFIER c.373-2452C>T
c.373-2452C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 5/21 chr17 658405
chr17:658414 A
A
 C
C
 1 a0003c0004t0006g0016
a0003c0004t0006g0016
 1 NA18962.hp1
NA18962.hp1
 intron_variant MODIFIER c.373-2461T>G
c.373-2461T>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 5/21 chr17 658414
chr17:658423 G
G
 A
A
 1 a0001c0001t0084g0046
a0001c0001t0084g0046
 1 HG03516.hp1
HG03516.hp1
 intron_variant MODIFIER c.373-2470C>T
c.373-2470C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 5/21 chr17 658423
chr17:658460 AACTTGGC
others(177): Show 
AACTTGGCCGTGAGTTCGTGGATAGATACATCCCACTGAAGTGAGAAACT
CGGCAGGGAGTTCGTGGATAGATACATCCCACCAAAGTGAGAAACTTGGC
CGTGAGTTCTTGGATAGATACATCGCACTAAAGTGAGAAACTCGGCAGGG
AGTTCGTGGGTAGATACATCCCACTAAAGTGAGAT
 A
A
 1 a0003c0004t0006g0016
a0003c0004t0006g0016
 1 NA18962.hp1
NA18962.hp1
 intron_variant MODIFIER c.373-2691_373-2508d
others(2): Show 
c.373-2691_373-2508del
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 5/21 chr17 658460
chr17:658542 C
C
 T
T
 97 a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
others(94): Show 
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0001g0094
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0065g0093
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0077g0095
a0001c0002t0078g0041
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0011t0051g0091
a0001c0016t0052g0099
a0002c0003t0073g0068
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
 97 HG00099.hp2
HG00140.hp2
HG00280.hp1
others(94): Show 
HG00099.hp2
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00621.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01099.hp2
HG01106.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01255.hp1
HG01256.hp1
HG01257.hp2
HG01258.hp1
HG01361.hp1
HG01496.hp1
HG01515.hp2
HG01516.hp2
HG01517.hp1
HG01978.hp1
HG01981.hp2
HG02074.hp1
HG02109.hp1
HG02135.hp1
HG02135.hp2
HG02602.hp1
HG02738.hp1
HG02886.hp1
HG03491.hp1
HG03492.hp1
HG03516.hp2
HG03688.hp1
HG03831.hp2
HG04204.hp2
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18944.hp1
NA18945.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp2
NA18955.hp2
NA18957.hp1
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp2
NA18962.hp2
NA18967.hp1
NA18973.hp1
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18979.hp1
NA18984.hp1
NA18984.hp2
NA18986.hp2
NA18990.hp1
NA18994.hp1
NA18994.hp2
NA19000.hp2
NA19007.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp2
NA19060.hp1
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19068.hp1
NA19070.hp1
NA19079.hp1
NA19080.hp1
NA19081.hp1
NA19084.hp1
NA19087.hp1
NA19087.hp2
NA19090.hp1
NA19091.hp1
NA19091.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.373-2589G>A
c.373-2589G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 5/21 chr17 658542
chr17:658644 T
T
 C
C
 229 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(226): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0017g0158
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0032g0114
a0001c0001t0032g0204
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0034g0126
a0001c0001t0034g0162
a0001c0001t0069g0012
a0001c0001t0084g0046
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0097g0199
a0001c0001t0098g0147
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0105g0201
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0108g0148
a0001c0001t0110g0127
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0118g0195
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0122g0160
a0001c0001t0123g0123
a0001c0001t0127g0159
a0001c0001t0128g0132
a0001c0001t0134g0154
a0001c0001t0138g0161
a0001c0001t0141g0165
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0001g0094
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0017g0225
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0035g0219
a0001c0002t0038g0224
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0050g0049
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0065g0093
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0077g0095
a0001c0002t0078g0041
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0002t0086g0221
a0001c0002t0100g0223
a0001c0002t0109g0222
a0001c0002t0125g0116
a0001c0002t0143g0226
a0001c0002t0149g0202
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0001c0011t0051g0091
a0001c0014t0135g0166
a0001c0015t0126g0149
a0001c0016t0052g0099
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0017g0179
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0018g0231
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0073g0068
a0002c0003t0085g0184
a0002c0003t0089g0175
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0099g0192
a0002c0003t0104g0208
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0145g0187
a0002c0003t0146g0170
a0002c0003t0148g0174
a0002c0003t0150g0191
a0002c0010t0038g0156
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
a0004c0008t0035g0203
a0004c0008t0036g0207
a0004c0008t0103g0227
a0004c0008t0124g0229
a0004c0008t0133g0232
a0004c0008t0142g0228
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
a0006c0012t0129g0140
a0007c0013t0132g0163
 229 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(226): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00621.hp1
HG00621.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02056.hp1
HG02056.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18955.hp1
NA18955.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp2
NA18967.hp1
NA18967.hp2
NA18973.hp1
NA18973.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18990.hp1
NA18990.hp2
NA18994.hp1
NA18994.hp2
NA19000.hp1
NA19000.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19087.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.373-2691A>G
c.373-2691A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 5/21 chr17 658644
chr17:658653 G
G
 C
C
 41 a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
others(38): Show 
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0058g0052
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0002c0003t0073g0068
 41 HG00140.hp2
HG00280.hp1
HG00323.hp1
others(38): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp1
HG00621.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01106.hp1
HG01167.hp2
HG01168.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01361.hp1
HG01496.hp1
HG01978.hp1
HG02135.hp1
HG02738.hp1
HG02886.hp1
HG04204.hp2
NA18940.hp1
NA18944.hp1
NA18946.hp2
NA18948.hp2
NA18959.hp2
NA18960.hp1
NA18962.hp2
NA18967.hp1
NA18973.hp1
NA18977.hp2
NA18979.hp1
NA19007.hp1
NA19009.hp1
NA19065.hp1
NA19070.hp1
NA19079.hp1
NA19084.hp1
NA19090.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.373-2700C>G
c.373-2700C>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 5/21 chr17 658653
chr17:658653 G
G
 T
T
 1 a0003c0004t0006g0016
a0003c0004t0006g0016
 1 NA18962.hp1
NA18962.hp1
 intron_variant MODIFIER c.373-2700C>A
c.373-2700C>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 5/21 chr17 658653
chr17:658660 C
C
 T
T
 1 a0001c0001t0032g0204
a0001c0001t0032g0204
 1 HG02922.hp1
HG02922.hp1
 intron_variant MODIFIER c.373-2707G>A
c.373-2707G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 5/21 chr17 658660
chr17:658688 G
G
 A
A
 4 a0001c0001t0032g0114
a0001c0001t0095g0145
a0001c0001t0096g0146
others(1): Show 
a0001c0001t0032g0114
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0098g0147
 4 HG02818.hp2
HG02895.hp1
HG03225.hp2
others(1): Show 
HG02818.hp2
HG02895.hp1
HG03225.hp2
NA20300.hp2
 intron_variant MODIFIER c.373-2735C>T
c.373-2735C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 5/21 chr17 658688
chr17:658690 C
C
 A
A
 1 a0003c0004t0006g0016
a0003c0004t0006g0016
 1 NA18962.hp1
NA18962.hp1
 intron_variant MODIFIER c.373-2737G>T
c.373-2737G>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 5/21 chr17 658690
chr17:658736 C
C
 A
A
 1 a0003c0004t0006g0016
a0003c0004t0006g0016
 1 NA18962.hp1
NA18962.hp1
 intron_variant MODIFIER c.373-2783G>T
c.373-2783G>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 5/21 chr17 658736
chr17:658744 C
C
 T
T
 1 a0001c0001t0084g0046
a0001c0001t0084g0046
 1 HG03516.hp1
HG03516.hp1
 intron_variant MODIFIER c.373-2791G>A
c.373-2791G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 5/21 chr17 658744
chr17:658898 C
C
 T
T
 230 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(227): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0017g0158
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0032g0114
a0001c0001t0032g0204
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0034g0126
a0001c0001t0034g0162
a0001c0001t0069g0012
a0001c0001t0084g0046
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0097g0199
a0001c0001t0098g0147
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0105g0201
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0108g0148
a0001c0001t0110g0127
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0118g0195
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0122g0160
a0001c0001t0123g0123
a0001c0001t0127g0159
a0001c0001t0128g0132
a0001c0001t0134g0154
a0001c0001t0138g0161
a0001c0001t0141g0165
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0001g0094
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0017g0225
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0035g0219
a0001c0002t0038g0224
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0050g0049
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0065g0093
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0077g0095
a0001c0002t0078g0041
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0002t0086g0221
a0001c0002t0100g0223
a0001c0002t0109g0222
a0001c0002t0125g0116
a0001c0002t0143g0226
a0001c0002t0149g0202
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0001c0011t0051g0091
a0001c0014t0135g0166
a0001c0015t0126g0149
a0001c0016t0052g0099
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0017g0179
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0018g0231
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0073g0068
a0002c0003t0085g0184
a0002c0003t0089g0175
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0099g0192
a0002c0003t0104g0208
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0145g0187
a0002c0003t0146g0170
a0002c0003t0148g0174
a0002c0003t0150g0191
a0002c0010t0038g0156
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
a0004c0008t0035g0203
a0004c0008t0036g0207
a0004c0008t0103g0227
a0004c0008t0124g0229
a0004c0008t0133g0232
a0004c0008t0142g0228
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
a0006c0012t0129g0140
a0007c0013t0132g0163
 230 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(227): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00621.hp1
HG00621.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02056.hp1
HG02056.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18955.hp1
NA18955.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18967.hp1
NA18967.hp2
NA18973.hp1
NA18973.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18990.hp1
NA18990.hp2
NA18994.hp1
NA18994.hp2
NA19000.hp1
NA19000.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19087.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.372+2911G>A
c.372+2911G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 5/21 chr17 658898
chr17:659004 G
G
 A
A
 98 a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
others(95): Show 
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0001g0094
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0065g0093
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0077g0095
a0001c0002t0078g0041
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0011t0051g0091
a0001c0016t0052g0099
a0002c0003t0073g0068
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
 98 HG00099.hp2
HG00140.hp2
HG00280.hp1
others(95): Show 
HG00099.hp2
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00621.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01099.hp2
HG01106.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01255.hp1
HG01256.hp1
HG01257.hp2
HG01258.hp1
HG01361.hp1
HG01496.hp1
HG01515.hp2
HG01516.hp2
HG01517.hp1
HG01978.hp1
HG01981.hp2
HG02074.hp1
HG02109.hp1
HG02135.hp1
HG02135.hp2
HG02602.hp1
HG02738.hp1
HG02886.hp1
HG03491.hp1
HG03492.hp1
HG03516.hp2
HG03688.hp1
HG03831.hp2
HG04204.hp2
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18944.hp1
NA18945.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp2
NA18955.hp2
NA18957.hp1
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18967.hp1
NA18973.hp1
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18979.hp1
NA18984.hp1
NA18984.hp2
NA18986.hp2
NA18990.hp1
NA18994.hp1
NA18994.hp2
NA19000.hp2
NA19007.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp2
NA19060.hp1
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19068.hp1
NA19070.hp1
NA19079.hp1
NA19080.hp1
NA19081.hp1
NA19084.hp1
NA19087.hp1
NA19087.hp2
NA19090.hp1
NA19091.hp1
NA19091.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.372+2805C>T
c.372+2805C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 5/21 chr17 659004
chr17:659037 TA
TA
 T
T
 61 a0001c0001t0015g0135
a0001c0001t0030g0119
a0001c0001t0119g0144
others(58): Show 
a0001c0001t0015g0135
a0001c0001t0030g0119
a0001c0001t0119g0144
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0001g0094
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0077g0095
a0001c0002t0078g0041
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0011t0051g0091
a0002c0003t0073g0068
a0002c0003t0085g0184
a0002c0003t0131g0193
a0002c0003t0145g0187
a0003c0004t0054g0032
 61 HG00140.hp2
HG00280.hp1
HG00323.hp1
others(58): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp1
HG00621.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01106.hp1
HG01167.hp2
HG01168.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01361.hp1
HG01496.hp1
HG01978.hp1
HG02135.hp1
HG02135.hp2
HG02280.hp2
HG02602.hp1
HG02738.hp1
HG02886.hp1
HG03491.hp2
HG03516.hp2
HG04199.hp1
HG04204.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp2
NA18940.hp1
NA18944.hp1
NA18948.hp2
NA18955.hp2
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18962.hp2
NA18967.hp1
NA18973.hp1
NA18977.hp2
NA18979.hp1
NA18987.hp2
NA18994.hp2
NA19000.hp2
NA19007.hp1
NA19009.hp1
NA19010.hp2
NA19064.hp2
NA19065.hp1
NA19070.hp1
NA19079.hp1
NA19084.hp1
NA19087.hp1
NA19087.hp2
NA19090.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.372+2771delT
c.372+2771delT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 5/21 chr17 659037
chr17:659054 G
G
 T
T
 230 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(227): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0017g0158
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0032g0114
a0001c0001t0032g0204
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0034g0126
a0001c0001t0034g0162
a0001c0001t0069g0012
a0001c0001t0084g0046
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0097g0199
a0001c0001t0098g0147
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0105g0201
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0108g0148
a0001c0001t0110g0127
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0118g0195
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0122g0160
a0001c0001t0123g0123
a0001c0001t0127g0159
a0001c0001t0128g0132
a0001c0001t0134g0154
a0001c0001t0138g0161
a0001c0001t0141g0165
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0001g0094
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0017g0225
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0035g0219
a0001c0002t0038g0224
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0050g0049
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0065g0093
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0077g0095
a0001c0002t0078g0041
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0002t0086g0221
a0001c0002t0100g0223
a0001c0002t0109g0222
a0001c0002t0125g0116
a0001c0002t0143g0226
a0001c0002t0149g0202
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0001c0011t0051g0091
a0001c0014t0135g0166
a0001c0015t0126g0149
a0001c0016t0052g0099
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0017g0179
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0018g0231
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0073g0068
a0002c0003t0085g0184
a0002c0003t0089g0175
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0099g0192
a0002c0003t0104g0208
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0145g0187
a0002c0003t0146g0170
a0002c0003t0148g0174
a0002c0003t0150g0191
a0002c0010t0038g0156
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
a0004c0008t0035g0203
a0004c0008t0036g0207
a0004c0008t0103g0227
a0004c0008t0124g0229
a0004c0008t0133g0232
a0004c0008t0142g0228
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
a0006c0012t0129g0140
a0007c0013t0132g0163
 230 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(227): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00621.hp1
HG00621.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02056.hp1
HG02056.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18955.hp1
NA18955.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18967.hp1
NA18967.hp2
NA18973.hp1
NA18973.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18990.hp1
NA18990.hp2
NA18994.hp1
NA18994.hp2
NA19000.hp1
NA19000.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19087.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.372+2755C>A
c.372+2755C>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 5/21 chr17 659054
chr17:659095 C
C
 CA
CA
 16 a0001c0001t0017g0158
a0001c0001t0033g0205
a0001c0001t0033g0206
others(13): Show 
a0001c0001t0017g0158
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0034g0162
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0122g0160
a0001c0001t0127g0159
a0001c0001t0138g0161
a0001c0001t0141g0165
a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0005t0080g0092
a0001c0011t0051g0091
a0007c0013t0132g0163
 16 HG00741.hp1
HG01074.hp2
HG01106.hp2
others(13): Show 
HG00741.hp1
HG01074.hp2
HG01106.hp2
HG01109.hp1
HG01257.hp1
HG01258.hp2
HG01891.hp1
HG02886.hp2
HG02895.hp2
HG03225.hp1
HG04204.hp1
NA18747.hp2
NA18955.hp2
NA18984.hp2
NA19064.hp2
NA20129.hp1
 intron_variant MODIFIER c.372+2713dupT
c.372+2713dupT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 5/21 chr17 659095
chr17:659163 C
C
 T
T
 1 a0001c0002t0125g0116
a0001c0002t0125g0116
 1 NA19007.hp2
NA19007.hp2
 intron_variant MODIFIER c.372+2646G>A
c.372+2646G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 5/21 chr17 659163
chr17:659173 G
G
 A
A
 1 a0003c0004t0004g0025
a0003c0004t0004g0025
 1 NA18612.hp2
NA18612.hp2
 intron_variant MODIFIER c.372+2636C>T
c.372+2636C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 5/21 chr17 659173
chr17:659238 C
C
 A
A
 30 a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
others(27): Show 
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
 30 HG01257.hp2
HG01516.hp2
HG01517.hp1
others(27): Show 
HG01257.hp2
HG01516.hp2
HG01517.hp1
HG02074.hp1
HG02109.hp1
HG03831.hp2
NA18612.hp2
NA18906.hp1
NA18945.hp1
NA18950.hp2
NA18957.hp1
NA18959.hp1
NA18961.hp2
NA18962.hp1
NA18977.hp1
NA18978.hp1
NA18984.hp1
NA18986.hp2
NA18990.hp1
NA18994.hp1
NA19011.hp2
NA19060.hp1
NA19064.hp1
NA19068.hp1
NA19080.hp1
NA19081.hp1
NA19087.hp2
NA19091.hp2
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.372+2571G>T
c.372+2571G>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 5/21 chr17 659238
chr17:659255 G
G
 C
C
 53 a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
others(50): Show 
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0016t0052g0099
a0002c0003t0073g0068
 53 HG00099.hp2
HG00140.hp2
HG00280.hp1
others(50): Show 
HG00099.hp2
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00621.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01099.hp2
HG01106.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01361.hp1
HG01496.hp1
HG01515.hp2
HG01978.hp1
HG01981.hp2
HG02135.hp1
HG02738.hp1
HG02886.hp1
HG03491.hp1
HG03492.hp1
HG03688.hp1
HG04204.hp2
NA18906.hp2
NA18940.hp1
NA18944.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18959.hp2
NA18960.hp1
NA18962.hp2
NA18967.hp1
NA18973.hp1
NA18977.hp2
NA18979.hp1
NA19007.hp1
NA19009.hp1
NA19065.hp1
NA19070.hp1
NA19079.hp1
NA19084.hp1
NA19090.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.372+2554C>G
c.372+2554C>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 5/21 chr17 659255
chr17:659267 G
G
 A
A
 4 a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0088g0152
others(1): Show 
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0088g0152
a0001c0001t0097g0199
 4 HG01884.hp1
HG02622.hp2
HG02922.hp2
others(1): Show 
HG01884.hp1
HG02622.hp2
HG02922.hp2
HG03139.hp2
 intron_variant MODIFIER c.372+2542C>T
c.372+2542C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 5/21 chr17 659267
chr17:659291 T
T
 A
A
 45 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(42): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0034g0126
a0001c0001t0069g0012
a0001c0001t0094g0129
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0110g0127
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0123g0123
a0001c0001t0128g0132
a0001c0002t0050g0049
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0006c0012t0129g0140
 45 HG00423.hp2
HG00741.hp2
HG01081.hp2
others(42): Show 
HG00423.hp2
HG00741.hp2
HG01081.hp2
HG01175.hp2
HG01192.hp2
HG01255.hp2
HG01256.hp2
HG01361.hp2
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp2
HG01928.hp2
HG01978.hp2
HG02040.hp2
HG02056.hp2
HG02083.hp2
HG02109.hp2
HG02129.hp2
HG02132.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02602.hp2
HG03492.hp2
HG03688.hp2
HG04184.hp2
HG04199.hp2
NA18940.hp2
NA18945.hp2
NA18950.hp1
NA18961.hp1
NA18967.hp2
NA18978.hp2
NA18983.hp2
NA18987.hp2
NA19009.hp2
NA19060.hp2
NA19065.hp2
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19079.hp2
NA19081.hp2
 intron_variant MODIFIER c.372+2518A>T
c.372+2518A>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 5/21 chr17 659291
chr17:659307 A
A
 G
G
 230 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(227): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0017g0158
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0032g0114
a0001c0001t0032g0204
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0034g0126
a0001c0001t0034g0162
a0001c0001t0069g0012
a0001c0001t0084g0046
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0097g0199
a0001c0001t0098g0147
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0105g0201
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0108g0148
a0001c0001t0110g0127
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0118g0195
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0122g0160
a0001c0001t0123g0123
a0001c0001t0127g0159
a0001c0001t0128g0132
a0001c0001t0134g0154
a0001c0001t0138g0161
a0001c0001t0141g0165
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0001g0094
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0017g0225
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0035g0219
a0001c0002t0038g0224
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0050g0049
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0065g0093
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0077g0095
a0001c0002t0078g0041
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0002t0086g0221
a0001c0002t0100g0223
a0001c0002t0109g0222
a0001c0002t0125g0116
a0001c0002t0143g0226
a0001c0002t0149g0202
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0001c0011t0051g0091
a0001c0014t0135g0166
a0001c0015t0126g0149
a0001c0016t0052g0099
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0017g0179
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0018g0231
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0073g0068
a0002c0003t0085g0184
a0002c0003t0089g0175
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0099g0192
a0002c0003t0104g0208
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0145g0187
a0002c0003t0146g0170
a0002c0003t0148g0174
a0002c0003t0150g0191
a0002c0010t0038g0156
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
a0004c0008t0035g0203
a0004c0008t0036g0207
a0004c0008t0103g0227
a0004c0008t0124g0229
a0004c0008t0133g0232
a0004c0008t0142g0228
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
a0006c0012t0129g0140
a0007c0013t0132g0163
 230 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(227): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00621.hp1
HG00621.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02056.hp1
HG02056.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18955.hp1
NA18955.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18967.hp1
NA18967.hp2
NA18973.hp1
NA18973.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18990.hp1
NA18990.hp2
NA18994.hp1
NA18994.hp2
NA19000.hp1
NA19000.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19087.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.372+2502T>C
c.372+2502T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 5/21 chr17 659307
chr17:659335 C
C
 G
G
 230 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(227): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0017g0158
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0032g0114
a0001c0001t0032g0204
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0034g0126
a0001c0001t0034g0162
a0001c0001t0069g0012
a0001c0001t0084g0046
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0097g0199
a0001c0001t0098g0147
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0105g0201
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0108g0148
a0001c0001t0110g0127
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0118g0195
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0122g0160
a0001c0001t0123g0123
a0001c0001t0127g0159
a0001c0001t0128g0132
a0001c0001t0134g0154
a0001c0001t0138g0161
a0001c0001t0141g0165
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0001g0094
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0017g0225
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0035g0219
a0001c0002t0038g0224
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0050g0049
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0065g0093
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0077g0095
a0001c0002t0078g0041
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0002t0086g0221
a0001c0002t0100g0223
a0001c0002t0109g0222
a0001c0002t0125g0116
a0001c0002t0143g0226
a0001c0002t0149g0202
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0001c0011t0051g0091
a0001c0014t0135g0166
a0001c0015t0126g0149
a0001c0016t0052g0099
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0017g0179
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0018g0231
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0073g0068
a0002c0003t0085g0184
a0002c0003t0089g0175
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0099g0192
a0002c0003t0104g0208
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0145g0187
a0002c0003t0146g0170
a0002c0003t0148g0174
a0002c0003t0150g0191
a0002c0010t0038g0156
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
a0004c0008t0035g0203
a0004c0008t0036g0207
a0004c0008t0103g0227
a0004c0008t0124g0229
a0004c0008t0133g0232
a0004c0008t0142g0228
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
a0006c0012t0129g0140
a0007c0013t0132g0163
 230 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(227): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00621.hp1
HG00621.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02056.hp1
HG02056.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18955.hp1
NA18955.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18967.hp1
NA18967.hp2
NA18973.hp1
NA18973.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18990.hp1
NA18990.hp2
NA18994.hp1
NA18994.hp2
NA19000.hp1
NA19000.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19087.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.372+2474G>C
c.372+2474G>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 5/21 chr17 659335
chr17:659415 G
G
 A
A
 1 a0001c0002t0100g0223
a0001c0002t0100g0223
 1 NA18944.hp2
NA18944.hp2
 intron_variant MODIFIER c.372+2394C>T
c.372+2394C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 5/21 chr17 659415
chr17:659434 C
C
 T
T
 1 a0001c0002t0049g0048
a0001c0002t0049g0048
 1 HG02145.hp2
HG02145.hp2
 intron_variant MODIFIER c.372+2375G>A
c.372+2375G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 5/21 chr17 659434
chr17:659527 C
C
 G
G
 15 a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
others(12): Show 
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0097g0199
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0105g0201
a0001c0001t0118g0195
a0001c0001t0134g0154
a0002c0010t0038g0156
 15 HG01109.hp2
HG01346.hp2
HG01884.hp1
others(12): Show 
HG01109.hp2
HG01346.hp2
HG01884.hp1
HG01891.hp2
HG02572.hp2
HG02622.hp1
HG02622.hp2
HG02723.hp2
HG02818.hp1
HG02922.hp2
HG03139.hp1
HG03139.hp2
NA20129.hp2
NA20300.hp1
NA21309.hp1
 intron_variant MODIFIER c.372+2282G>C
c.372+2282G>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 5/21 chr17 659527
chr17:659528 T
T
 C
C
 30 a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
others(27): Show 
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
 30 HG01257.hp2
HG01516.hp2
HG01517.hp1
others(27): Show 
HG01257.hp2
HG01516.hp2
HG01517.hp1
HG02074.hp1
HG02109.hp1
HG03831.hp2
NA18612.hp2
NA18906.hp1
NA18945.hp1
NA18950.hp2
NA18957.hp1
NA18959.hp1
NA18961.hp2
NA18962.hp1
NA18977.hp1
NA18978.hp1
NA18984.hp1
NA18986.hp2
NA18990.hp1
NA18994.hp1
NA19011.hp2
NA19060.hp1
NA19064.hp1
NA19068.hp1
NA19080.hp1
NA19081.hp1
NA19087.hp2
NA19091.hp2
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.372+2281A>G
c.372+2281A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 5/21 chr17 659528
chr17:659649 AGTCCTAA
others(46): Show 
AGTCCTAAATATTCTCCCTCTGCTTCATCTCAAGACTCTATCCCTTCTCT
CTAT
 A
A
 1 a0001c0002t0050g0049
a0001c0002t0050g0049
 1 HG02280.hp1
HG02280.hp1
 intron_variant MODIFIER c.372+2107_372+2159d
others(55): Show 
c.372+2107_372+2159delATAGAGAGAAGGGATAGAGTCTTGAGAT
GAAGCAGAGGGAGAATATTTAGGAC
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 5/21 chr17 659649
chr17:659659 A
A
 G
G
 1 a0002c0003t0018g0214
a0002c0003t0018g0214
 1 HG00621.hp1
HG00621.hp1
 intron_variant MODIFIER c.372+2150T>C
c.372+2150T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 5/21 chr17 659659
chr17:659751 T
T
 C
C
 2 a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0031g0153
a0001c0001t0031g0155
 2 HG01891.hp2
NA20129.hp2
HG01891.hp2
NA20129.hp2
 intron_variant MODIFIER c.372+2058A>G
c.372+2058A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 5/21 chr17 659751
chr17:659796 C
C
 T
T
 2 a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0031g0153
a0001c0001t0031g0155
 2 HG01891.hp2
NA20129.hp2
HG01891.hp2
NA20129.hp2
 intron_variant MODIFIER c.372+2013G>A
c.372+2013G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 5/21 chr17 659796
chr17:659862 C
C
 G
G
 1 a0001c0002t0086g0221
a0001c0002t0086g0221
 1 HG02145.hp1
HG02145.hp1
 intron_variant MODIFIER c.372+1947G>C
c.372+1947G>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 5/21 chr17 659862
chr17:660098 G
G
 A
A
 53 a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
others(50): Show 
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0016t0052g0099
a0002c0003t0073g0068
 53 HG00099.hp2
HG00140.hp2
HG00280.hp1
others(50): Show 
HG00099.hp2
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00621.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01099.hp2
HG01106.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01361.hp1
HG01496.hp1
HG01515.hp2
HG01978.hp1
HG01981.hp2
HG02135.hp1
HG02738.hp1
HG02886.hp1
HG03491.hp1
HG03492.hp1
HG03688.hp1
HG04204.hp2
NA18906.hp2
NA18940.hp1
NA18944.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18959.hp2
NA18960.hp1
NA18962.hp2
NA18967.hp1
NA18973.hp1
NA18977.hp2
NA18979.hp1
NA19007.hp1
NA19009.hp1
NA19065.hp1
NA19070.hp1
NA19079.hp1
NA19084.hp1
NA19090.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.372+1711C>T
c.372+1711C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 5/21 chr17 660098
chr17:660100 G
G
 A
A
 1 a0001c0007t0062g0104
a0001c0007t0062g0104
 1 HG02293.hp2
HG02293.hp2
 intron_variant MODIFIER c.372+1709C>T
c.372+1709C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 5/21 chr17 660100
chr17:660105 G
G
 A
A
 30 a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
others(27): Show 
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
 30 HG01257.hp2
HG01516.hp2
HG01517.hp1
others(27): Show 
HG01257.hp2
HG01516.hp2
HG01517.hp1
HG02074.hp1
HG02109.hp1
HG03831.hp2
NA18612.hp2
NA18906.hp1
NA18945.hp1
NA18950.hp2
NA18957.hp1
NA18959.hp1
NA18961.hp2
NA18962.hp1
NA18977.hp1
NA18978.hp1
NA18984.hp1
NA18986.hp2
NA18990.hp1
NA18994.hp1
NA19011.hp2
NA19060.hp1
NA19064.hp1
NA19068.hp1
NA19080.hp1
NA19081.hp1
NA19087.hp2
NA19091.hp2
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.372+1704C>T
c.372+1704C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 5/21 chr17 660105
chr17:660110 C
C
 T
T
 9 a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
others(6): Show 
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
 9 HG02135.hp2
HG02602.hp1
NA18747.hp1
others(6): Show 
HG02135.hp2
HG02602.hp1
NA18747.hp1
NA18960.hp2
NA18994.hp2
NA19000.hp2
NA19010.hp2
NA19087.hp1
NA19091.hp1
 intron_variant MODIFIER c.372+1699G>A
c.372+1699G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 5/21 chr17 660110
chr17:660147 A
A
 G
G
 1 a0003c0004t0047g0017
a0003c0004t0047g0017
 1 NA18994.hp1
NA18994.hp1
 intron_variant MODIFIER c.372+1662T>C
c.372+1662T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 5/21 chr17 660147
chr17:660307 A
A
 G
G
 1 a0001c0002t0078g0041
a0001c0002t0078g0041
 1 HG03516.hp2
HG03516.hp2
 intron_variant MODIFIER c.372+1502T>C
c.372+1502T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 5/21 chr17 660307
chr17:660338 C
C
 T
T
 3 a0001c0002t0082g0069
a0001c0002t0083g0067
a0002c0003t0073g0068
a0001c0002t0082g0069
a0001c0002t0083g0067
a0002c0003t0073g0068
 3 HG00621.hp2
NA18977.hp2
NA19079.hp1
HG00621.hp2
NA18977.hp2
NA19079.hp1
 intron_variant MODIFIER c.372+1471G>A
c.372+1471G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 5/21 chr17 660338
chr17:660502 C
C
 T
T
 5 a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
others(2): Show 
a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0005t0080g0092
a0001c0011t0051g0091
 5 HG01074.hp2
NA18747.hp2
NA18955.hp2
others(2): Show 
HG01074.hp2
NA18747.hp2
NA18955.hp2
NA18984.hp2
NA19064.hp2
 intron_variant MODIFIER c.372+1307G>A
c.372+1307G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 5/21 chr17 660502
chr17:660527 C
C
 A
A
 14 a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
others(11): Show 
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0097g0199
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0105g0201
a0001c0001t0118g0195
a0001c0001t0134g0154
 14 HG01109.hp2
HG01346.hp2
HG01884.hp1
others(11): Show 
HG01109.hp2
HG01346.hp2
HG01884.hp1
HG01891.hp2
HG02572.hp2
HG02622.hp1
HG02622.hp2
HG02723.hp2
HG02818.hp1
HG02922.hp2
HG03139.hp1
HG03139.hp2
NA20129.hp2
NA20300.hp1
 intron_variant MODIFIER c.372+1282G>T
c.372+1282G>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 5/21 chr17 660527
chr17:660601 A
A
 C
C
 1 a0001c0001t0108g0148
a0001c0001t0108g0148
 1 HG01192.hp1
HG01192.hp1
 intron_variant MODIFIER c.372+1208T>G
c.372+1208T>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 5/21 chr17 660601
chr17:660609 TGGTGCTG
others(87): Show 
TGGTGCTGCTGGGTGTGGTGCACCCTTGGGGAAGGACGAGGGCCCCTGGG
TGCTGCTGGGTGTGGTGCATCCTTGGTGAAGGACGAGGGCCCCTG
 T
T
 5 a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
others(2): Show 
a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0005t0080g0092
a0001c0011t0051g0091
 5 HG01074.hp2
NA18747.hp2
NA18955.hp2
others(2): Show 
HG01074.hp2
NA18747.hp2
NA18955.hp2
NA18984.hp2
NA19064.hp2
 intron_variant MODIFIER c.372+1106_372+1199d
others(96): Show 
c.372+1106_372+1199delCAGGGGCCCTCGTCCTTCACCAAGGATG
CACCACACCCAGCAGCACCCAGGGGCCCTCGTCCTTCCCCAAGGGTGCAC
CACACCCAGCAGCACC
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 5/21 chr17 660609
chr17:660637 GGGAAGGA
others(38): Show 
GGGAAGGACGAGGGCCCCTGGGTGCTGCTGGGTGTGGTGCATCCTT
 G
G
 1 a0002c0010t0038g0156
a0002c0010t0038g0156
 1 NA21309.hp1
NA21309.hp1
 intron_variant MODIFIER c.372+1127_372+1171d
others(47): Show 
c.372+1127_372+1171delAAGGATGCACCACACCCAGCAGCACCCA
GGGGCCCTCGTCCTTCC
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 5/21 chr17 660637
chr17:660638 GGAAGGAC
others(40): Show 
GGAAGGACGAGGGCCCCTGGGTGCTGCTGGGTGTGGTGCATCCTTGGT
 G
G
 89 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(86): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0017g0158
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0032g0114
a0001c0001t0032g0204
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0034g0126
a0001c0001t0034g0162
a0001c0001t0069g0012
a0001c0001t0084g0046
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0097g0199
a0001c0001t0098g0147
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0105g0201
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0108g0148
a0001c0001t0110g0127
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0118g0195
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0122g0160
a0001c0001t0123g0123
a0001c0001t0127g0159
a0001c0001t0128g0132
a0001c0001t0134g0154
a0001c0001t0138g0161
a0001c0001t0141g0165
a0001c0002t0050g0049
a0001c0002t0078g0041
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0001c0014t0135g0166
a0001c0015t0126g0149
a0006c0012t0129g0140
a0007c0013t0132g0163
 89 HG00423.hp2
HG00741.hp1
HG00741.hp2
others(86): Show 
HG00423.hp2
HG00741.hp1
HG00741.hp2
HG01081.hp2
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01346.hp2
HG01361.hp2
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp2
HG01978.hp2
HG02040.hp2
HG02056.hp2
HG02083.hp2
HG02109.hp2
HG02129.hp2
HG02132.hp2
HG02135.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02723.hp1
HG02723.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03688.hp2
HG04184.hp2
HG04199.hp2
HG04204.hp1
NA18747.hp1
NA18940.hp2
NA18945.hp2
NA18950.hp1
NA18960.hp2
NA18961.hp1
NA18967.hp2
NA18978.hp2
NA18983.hp2
NA18987.hp2
NA18994.hp2
NA19000.hp2
NA19009.hp2
NA19010.hp2
NA19060.hp2
NA19065.hp2
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19079.hp2
NA19081.hp2
NA19087.hp1
NA19091.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
 intron_variant MODIFIER c.372+1124_372+1170d
others(49): Show 
c.372+1124_372+1170delACCAAGGATGCACCACACCCAGCAGCAC
CCAGGGGCCCTCGTCCTTC
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 5/21 chr17 660638
chr17:660685 T
T
 G
G
 1 a0002c0010t0038g0156
a0002c0010t0038g0156
 1 NA21309.hp1
NA21309.hp1
 intron_variant MODIFIER c.372+1124A>C
c.372+1124A>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 5/21 chr17 660685
chr17:660994 C
C
 T
T
 11 a0001c0002t0078g0041
a0001c0005t0010g0008
a0001c0005t0019g0006
others(8): Show 
a0001c0002t0078g0041
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0003c0004t0004g0014
 11 HG02135.hp2
HG02602.hp1
HG03516.hp2
others(8): Show 
HG02135.hp2
HG02602.hp1
HG03516.hp2
NA18747.hp1
NA18957.hp1
NA18960.hp2
NA18994.hp2
NA19000.hp2
NA19010.hp2
NA19087.hp1
NA19091.hp1
 intron_variant MODIFIER c.372+815G>A
c.372+815G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 5/21 chr17 660994
chr17:661108 C
C
 A
A
 1 a0002c0010t0038g0156
a0002c0010t0038g0156
 1 NA21309.hp1
NA21309.hp1
 intron_variant MODIFIER c.372+701G>T
c.372+701G>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 5/21 chr17 661108
chr17:661224 GA
GA
 G
G
 5 a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
others(2): Show 
a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0005t0080g0092
a0001c0011t0051g0091
 5 HG01074.hp2
NA18747.hp2
NA18955.hp2
others(2): Show 
HG01074.hp2
NA18747.hp2
NA18955.hp2
NA18984.hp2
NA19064.hp2
 intron_variant MODIFIER c.372+584delT
c.372+584delT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 5/21 chr17 661224
chr17:661262 C
C
 T
T
 1 a0002c0003t0146g0170
a0002c0003t0146g0170
 1 NA19090.hp2
NA19090.hp2
 intron_variant MODIFIER c.372+547G>A
c.372+547G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 5/21 chr17 661262
chr17:661282 G
G
 A
A
 9 a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
others(6): Show 
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
 9 HG02135.hp2
HG02602.hp1
NA18747.hp1
others(6): Show 
HG02135.hp2
HG02602.hp1
NA18747.hp1
NA18960.hp2
NA18994.hp2
NA19000.hp2
NA19010.hp2
NA19087.hp1
NA19091.hp1
 intron_variant MODIFIER c.372+527C>T
c.372+527C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 5/21 chr17 661282
chr17:661381 C
C
 T
T
 53 a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
others(50): Show 
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0016t0052g0099
a0002c0003t0073g0068
 53 HG00099.hp2
HG00140.hp2
HG00280.hp1
others(50): Show 
HG00099.hp2
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00621.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01099.hp2
HG01106.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01361.hp1
HG01496.hp1
HG01515.hp2
HG01978.hp1
HG01981.hp2
HG02135.hp1
HG02738.hp1
HG02886.hp1
HG03491.hp1
HG03492.hp1
HG03688.hp1
HG04204.hp2
NA18906.hp2
NA18940.hp1
NA18944.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18959.hp2
NA18960.hp1
NA18962.hp2
NA18967.hp1
NA18973.hp1
NA18977.hp2
NA18979.hp1
NA19007.hp1
NA19009.hp1
NA19065.hp1
NA19070.hp1
NA19079.hp1
NA19084.hp1
NA19090.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.372+428G>A
c.372+428G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 5/21 chr17 661381
chr17:661474 T
T
 A
A
 2 a0001c0001t0002g0134
a0001c0001t0002g0141
a0001c0001t0002g0134
a0001c0001t0002g0141
 2 HG02083.hp2
NA19074.hp2
HG02083.hp2
NA19074.hp2
 intron_variant MODIFIER c.372+335A>T
c.372+335A>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 5/21 chr17 661474
chr17:661520 C
C
 CA
CA
 70 a0001c0001t0106g0117
a0001c0002t0001g0094
a0001c0002t0065g0093
others(67): Show 
a0001c0001t0106g0117
a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0002t0078g0041
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0011t0051g0091
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0017g0179
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0018g0231
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0085g0184
a0002c0003t0089g0175
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0099g0192
a0002c0003t0104g0208
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0145g0187
a0002c0003t0146g0170
a0002c0003t0148g0174
a0002c0003t0150g0191
a0002c0010t0038g0156
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0025
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0004c0008t0036g0207
a0005c0009t0130g0178
a0005c0009t0147g0177
 70 HG00323.hp2
HG00423.hp1
HG00438.hp2
others(67): Show 
HG00323.hp2
HG00423.hp1
HG00438.hp2
HG00621.hp1
HG01070.hp2
HG01071.hp1
HG01074.hp2
HG01099.hp1
HG01167.hp1
HG01928.hp1
HG01981.hp1
HG02040.hp1
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp1
HG02135.hp2
HG02293.hp1
HG02300.hp1
HG02602.hp1
HG02738.hp2
HG03491.hp2
HG03516.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG04199.hp1
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18945.hp1
NA18946.hp1
NA18955.hp2
NA18957.hp1
NA18957.hp2
NA18960.hp2
NA18961.hp2
NA18962.hp1
NA18978.hp1
NA18979.hp2
NA18983.hp1
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18987.hp1
NA18994.hp1
NA18994.hp2
NA19000.hp1
NA19000.hp2
NA19010.hp1
NA19010.hp2
NA19060.hp1
NA19064.hp1
NA19064.hp2
NA19066.hp2
NA19068.hp1
NA19074.hp1
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19084.hp2
NA19087.hp1
NA19087.hp2
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA21309.hp1
 intron_variant MODIFIER c.372+288dupT
c.372+288dupT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 5/21 chr17 661520
chr17:661520 C
C
 CAA
CAA
 49 a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
others(46): Show 
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0002c0003t0009g0218
a0002c0003t0073g0068
a0003c0004t0004g0021
a0003c0004t0004g0026
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0005c0009t0137g0189
 49 HG00140.hp2
HG00280.hp1
HG00323.hp1
others(46): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp1
HG00621.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01106.hp1
HG01167.hp2
HG01168.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01361.hp1
HG01496.hp1
HG01978.hp1
HG02056.hp1
HG02135.hp1
HG02738.hp1
HG02886.hp1
HG04204.hp2
NA18906.hp2
NA18940.hp1
NA18944.hp1
NA18946.hp2
NA18948.hp2
NA18950.hp2
NA18955.hp1
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18962.hp2
NA18967.hp1
NA18973.hp1
NA18977.hp1
NA18977.hp2
NA18979.hp1
NA18986.hp2
NA18990.hp1
NA19007.hp1
NA19011.hp2
NA19065.hp1
NA19070.hp1
NA19079.hp1
NA19084.hp1
NA19090.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.372+287_372+288dup
others(2): Show 
c.372+287_372+288dupTT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 5/21 chr17 661520
chr17:661520 C
C
 CAAA
CAAA
 12 a0001c0002t0010g0057
a0001c0006t0001g0113
a0001c0006t0021g0100
others(9): Show 
a0001c0002t0010g0057
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0016t0052g0099
 12 HG00099.hp2
HG00280.hp2
HG01099.hp2
others(9): Show 
HG00099.hp2
HG00280.hp2
HG01099.hp2
HG01168.hp2
HG01175.hp1
HG01515.hp2
HG01981.hp2
HG03491.hp1
HG03492.hp1
HG03688.hp1
NA18948.hp1
NA19009.hp1
 intron_variant MODIFIER c.372+286_372+288dup
others(3): Show 
c.372+286_372+288dupTTT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 5/21 chr17 661520
chr17:661542 CA
CA
 C
C
 14 a0001c0002t0017g0225
a0001c0002t0035g0219
a0001c0002t0038g0224
others(11): Show 
a0001c0002t0017g0225
a0001c0002t0035g0219
a0001c0002t0038g0224
a0001c0002t0086g0221
a0001c0002t0100g0223
a0001c0002t0109g0222
a0001c0002t0125g0116
a0001c0002t0143g0226
a0001c0002t0149g0202
a0004c0008t0035g0203
a0004c0008t0103g0227
a0004c0008t0124g0229
a0004c0008t0133g0232
a0004c0008t0142g0228
 14 HG00099.hp1
HG00140.hp1
HG00438.hp1
others(11): Show 
HG00099.hp1
HG00140.hp1
HG00438.hp1
HG01346.hp1
HG01516.hp1
HG02145.hp1
HG03942.hp2
HG04184.hp1
NA18944.hp2
NA18973.hp2
NA18990.hp2
NA19007.hp2
NA19011.hp1
NA19066.hp1
 intron_variant MODIFIER c.372+266delT
c.372+266delT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 5/21 chr17 661542
chr17:662024 AT
AT
 A
A
 38 a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
others(35): Show 
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0017g0179
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0018g0231
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0085g0184
a0002c0003t0089g0175
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0099g0192
a0002c0003t0104g0208
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0145g0187
a0002c0003t0146g0170
a0002c0003t0148g0174
a0002c0003t0150g0191
a0004c0008t0036g0207
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
 38 HG00323.hp2
HG00423.hp1
HG00438.hp2
others(35): Show 
HG00323.hp2
HG00423.hp1
HG00438.hp2
HG00621.hp1
HG01070.hp2
HG01071.hp1
HG01099.hp1
HG01167.hp1
HG01928.hp1
HG01981.hp1
HG02040.hp1
HG02056.hp1
HG02074.hp2
HG02083.hp1
HG02129.hp1
HG02132.hp1
HG02293.hp1
HG02300.hp1
HG02738.hp2
HG03491.hp2
HG03831.hp1
HG03942.hp1
HG04199.hp1
NA18612.hp1
NA18946.hp1
NA18955.hp1
NA18957.hp2
NA18979.hp2
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA19000.hp1
NA19010.hp1
NA19066.hp2
NA19074.hp1
NA19080.hp2
NA19084.hp2
NA19090.hp2
 intron_variant MODIFIER c.286-130delA
c.286-130delA
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 662024
chr17:662154 A
A
 T
T
 15 a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
others(12): Show 
a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0002t0078g0041
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0011t0051g0091
 15 HG01074.hp2
HG02135.hp2
HG02602.hp1
others(12): Show 
HG01074.hp2
HG02135.hp2
HG02602.hp1
HG03516.hp2
NA18747.hp1
NA18747.hp2
NA18955.hp2
NA18960.hp2
NA18984.hp2
NA18994.hp2
NA19000.hp2
NA19010.hp2
NA19064.hp2
NA19087.hp1
NA19091.hp1
 intron_variant MODIFIER c.286-259T>A
c.286-259T>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 662154
chr17:662259 C
C
 A
A
 5 a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
others(2): Show 
a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0005t0080g0092
a0001c0011t0051g0091
 5 HG01074.hp2
NA18747.hp2
NA18955.hp2
others(2): Show 
HG01074.hp2
NA18747.hp2
NA18955.hp2
NA18984.hp2
NA19064.hp2
 intron_variant MODIFIER c.286-364G>T
c.286-364G>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 662259
chr17:662413 G
G
 A
A
 1 a0001c0001t0128g0132
a0001c0001t0128g0132
 1 HG02056.hp2
HG02056.hp2
 intron_variant MODIFIER c.286-518C>T
c.286-518C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 662413
chr17:662414 A
A
 G
G
 6 a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
others(3): Show 
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0059g0029
a0003c0004t0061g0031
a0003c0004t0063g0034
 6 NA18945.hp1
NA18978.hp1
NA19060.hp1
others(3): Show 
NA18945.hp1
NA18978.hp1
NA19060.hp1
NA19064.hp1
NA19081.hp1
NA19091.hp2
 intron_variant MODIFIER c.286-519T>C
c.286-519T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 662414
chr17:662416 A
A
 G
G
 6 a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
others(3): Show 
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0059g0029
a0003c0004t0061g0031
a0003c0004t0063g0034
 6 NA18945.hp1
NA18978.hp1
NA19060.hp1
others(3): Show 
NA18945.hp1
NA18978.hp1
NA19060.hp1
NA19064.hp1
NA19081.hp1
NA19091.hp2
 intron_variant MODIFIER c.286-521T>C
c.286-521T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 662416
chr17:662418 A
A
 G
G
 6 a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
others(3): Show 
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0059g0029
a0003c0004t0061g0031
a0003c0004t0063g0034
 6 NA18945.hp1
NA18978.hp1
NA19060.hp1
others(3): Show 
NA18945.hp1
NA18978.hp1
NA19060.hp1
NA19064.hp1
NA19081.hp1
NA19091.hp2
 intron_variant MODIFIER c.286-523T>C
c.286-523T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 662418
chr17:662456 A
A
 G
G
 30 a0001c0001t0002g0121
a0001c0001t0002g0137
a0001c0001t0002g0139
others(27): Show 
a0001c0001t0002g0121
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0069g0012
a0001c0001t0094g0129
a0001c0001t0107g0212
a0001c0001t0110g0127
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0119g0144
a0001c0001t0121g0143
a0001c0001t0123g0123
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0006c0012t0129g0140
 30 HG00423.hp2
HG01081.hp2
HG01175.hp2
others(27): Show 
HG00423.hp2
HG01081.hp2
HG01175.hp2
HG01192.hp2
HG01255.hp2
HG01361.hp2
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01928.hp2
HG01978.hp2
HG02132.hp2
HG02293.hp2
HG02300.hp2
HG03492.hp2
HG04199.hp2
NA18945.hp2
NA18950.hp1
NA18961.hp1
NA18967.hp2
NA18978.hp2
NA18983.hp2
NA18987.hp2
NA19009.hp2
NA19060.hp2
NA19065.hp2
NA19068.hp2
NA19070.hp2
NA19079.hp2
NA19081.hp2
 intron_variant MODIFIER c.286-561T>C
c.286-561T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 662456
chr17:662460 C
C
 T
T
 1 a0002c0003t0144g0215
a0002c0003t0144g0215
 1 HG02738.hp2
HG02738.hp2
 intron_variant MODIFIER c.286-565G>A
c.286-565G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 662460
chr17:662461 G
G
 A
A
 5 a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
others(2): Show 
a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0005t0080g0092
a0001c0011t0051g0091
 5 HG01074.hp2
NA18747.hp2
NA18955.hp2
others(2): Show 
HG01074.hp2
NA18747.hp2
NA18955.hp2
NA18984.hp2
NA19064.hp2
 intron_variant MODIFIER c.286-566C>T
c.286-566C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 662461
chr17:662471 C
C
 T
T
 1 a0002c0003t0136g0216
a0002c0003t0136g0216
 1 HG03831.hp1
HG03831.hp1
 intron_variant MODIFIER c.286-576G>A
c.286-576G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 662471
chr17:662486 A
A
 G
G
 1 a0002c0003t0136g0216
a0002c0003t0136g0216
 1 HG03831.hp1
HG03831.hp1
 intron_variant MODIFIER c.286-591T>C
c.286-591T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 662486
chr17:662500 T
T
 C
C
 1 a0001c0002t0014g0077
a0001c0002t0014g0077
 1 NA18967.hp1
NA18967.hp1
 intron_variant MODIFIER c.286-605A>G
c.286-605A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 662500
chr17:662503 C
C
 G
G
 13 a0001c0001t0017g0158
a0001c0001t0032g0204
a0001c0001t0033g0205
others(10): Show 
a0001c0001t0017g0158
a0001c0001t0032g0204
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0034g0162
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0113g0122
a0001c0001t0122g0160
a0001c0001t0127g0159
a0001c0001t0138g0161
a0001c0001t0141g0165
a0007c0013t0132g0163
 13 HG00741.hp1
HG00741.hp2
HG01106.hp2
others(10): Show 
HG00741.hp1
HG00741.hp2
HG01106.hp2
HG01109.hp1
HG01257.hp1
HG01258.hp2
HG01891.hp1
HG02886.hp2
HG02895.hp2
HG02922.hp1
HG03225.hp1
HG04204.hp1
NA20129.hp1
 intron_variant MODIFIER c.286-608G>C
c.286-608G>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 662503
chr17:662505 C
C
 T
T
 180 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(177): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0017g0158
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0032g0114
a0001c0001t0032g0204
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0034g0162
a0001c0001t0069g0012
a0001c0001t0084g0046
a0001c0001t0087g0198
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0097g0199
a0001c0001t0098g0147
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0105g0201
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0108g0148
a0001c0001t0110g0127
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0122g0160
a0001c0001t0123g0123
a0001c0001t0127g0159
a0001c0001t0128g0132
a0001c0001t0134g0154
a0001c0001t0138g0161
a0001c0001t0141g0165
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0001g0094
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0050g0049
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0065g0093
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0077g0095
a0001c0002t0078g0041
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0002t0125g0116
a0001c0005t0010g0008
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0011t0051g0091
a0001c0014t0135g0166
a0001c0015t0126g0149
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0017g0179
a0002c0003t0018g0214
a0002c0003t0018g0231
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0073g0068
a0002c0003t0085g0184
a0002c0003t0089g0175
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0099g0192
a0002c0003t0104g0208
a0002c0003t0131g0193
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0146g0170
a0002c0003t0148g0174
a0002c0010t0038g0156
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
a0004c0008t0036g0207
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
a0006c0012t0129g0140
a0007c0013t0132g0163
 180 HG00140.hp2
HG00280.hp1
HG00323.hp1
others(177): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp2
HG00621.hp1
HG00621.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01192.hp1
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp2
HG01361.hp1
HG01361.hp2
HG01496.hp1
HG01515.hp2
HG01516.hp2
HG01517.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01978.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02056.hp1
HG02056.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02280.hp1
HG02280.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG03139.hp1
HG03225.hp1
HG03225.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03831.hp2
HG03942.hp1
HG04184.hp2
HG04199.hp2
HG04204.hp1
HG04204.hp2
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18944.hp1
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18955.hp1
NA18955.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp2
NA18967.hp1
NA18967.hp2
NA18973.hp1
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18990.hp1
NA18994.hp1
NA18994.hp2
NA19000.hp1
NA19000.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19011.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19087.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.286-610G>A
c.286-610G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 662505
chr17:662506 G
G
 A
A
 21 a0001c0002t0017g0225
a0001c0002t0035g0219
a0001c0002t0038g0224
others(18): Show 
a0001c0002t0017g0225
a0001c0002t0035g0219
a0001c0002t0038g0224
a0001c0002t0086g0221
a0001c0002t0100g0223
a0001c0002t0109g0222
a0001c0002t0143g0226
a0001c0002t0149g0202
a0001c0005t0019g0006
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0150g0191
a0004c0008t0035g0203
a0004c0008t0103g0227
a0004c0008t0124g0229
a0004c0008t0133g0232
a0004c0008t0142g0228
 21 HG00099.hp1
HG00140.hp1
HG00438.hp1
others(18): Show 
HG00099.hp1
HG00140.hp1
HG00438.hp1
HG01099.hp1
HG01346.hp1
HG01516.hp1
HG01981.hp1
HG02083.hp1
HG02145.hp1
HG02293.hp1
HG02300.hp1
HG03942.hp2
HG04184.hp1
NA18612.hp1
NA18944.hp2
NA18973.hp2
NA18990.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19066.hp1
 intron_variant MODIFIER c.286-611C>T
c.286-611C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 662506
chr17:662513 C
C
 T
T
 1 a0001c0001t0095g0145
a0001c0001t0095g0145
 1 NA20300.hp2
NA20300.hp2
 intron_variant MODIFIER c.286-618G>A
c.286-618G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 662513
chr17:662517 A
A
 G
G
 4 a0001c0002t0003g0072
a0001c0002t0024g0073
a0001c0002t0024g0088
others(1): Show 
a0001c0002t0003g0072
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0100g0223
 4 HG01081.hp1
HG01361.hp1
HG01496.hp1
others(1): Show 
HG01081.hp1
HG01361.hp1
HG01496.hp1
NA18944.hp2
 intron_variant MODIFIER c.286-622T>C
c.286-622T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 662517
chr17:662551 C
C
 T
T
 1 a0003c0004t0054g0032
a0003c0004t0054g0032
 1 NA19087.hp2
NA19087.hp2
 intron_variant MODIFIER c.286-656G>A
c.286-656G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 662551
chr17:662552 A
A
 G
G
 1 a0003c0004t0054g0032
a0003c0004t0054g0032
 1 NA19087.hp2
NA19087.hp2
 intron_variant MODIFIER c.286-657T>C
c.286-657T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 662552
chr17:662612 C
C
 A
A
 1 a0001c0005t0020g0010
a0001c0005t0020g0010
 1 NA19091.hp1
NA19091.hp1
 intron_variant MODIFIER c.286-717G>T
c.286-717G>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 662612
chr17:662749 A
A
 AGAGAAGA
others(31): Show 
AGAGAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG
 1 a0002c0003t0146g0170
a0002c0003t0146g0170
 1 NA19090.hp2
NA19090.hp2
 intron_variant MODIFIER c.286-855_286-854ins
others(38): Show 
c.286-855_286-854insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT
TTCTTCTC
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 662749
chr17:662751 G
G
 A
A
 1 a0002c0003t0146g0170
a0002c0003t0146g0170
 1 NA19090.hp2
NA19090.hp2
 intron_variant MODIFIER c.286-856C>T
c.286-856C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 662751
chr17:662751 G
G
 GACAAAGA
others(25): Show 
GACAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA
 2 a0001c0002t0077g0095
a0001c0005t0080g0092
a0001c0002t0077g0095
a0001c0005t0080g0092
 2 NA18955.hp2
NA19064.hp2
NA18955.hp2
NA19064.hp2
 intron_variant MODIFIER c.286-857_286-856ins
others(32): Show 
c.286-857_286-856insTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT
GT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 662751
chr17:662751 G
G
 GACAAAGA
others(29): Show 
GACAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA
 1 a0001c0002t0065g0093
a0001c0002t0065g0093
 1 NA18984.hp2
NA18984.hp2
 intron_variant MODIFIER c.286-857_286-856ins
others(36): Show 
c.286-857_286-856insTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT
CTTTGT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 662751
chr17:662751 G
G
 GAGAAAGA
others(1): Show 
GAGAAAGAA
 5 a0001c0002t0001g0045
a0001c0002t0001g0090
a0001c0002t0025g0075
others(2): Show 
a0001c0002t0001g0045
a0001c0002t0001g0090
a0001c0002t0025g0075
a0001c0002t0067g0076
a0003c0004t0004g0019
 5 HG01070.hp1
HG01168.hp1
HG01978.hp1
others(2): Show 
HG01070.hp1
HG01168.hp1
HG01978.hp1
HG02074.hp1
HG02738.hp1
 intron_variant MODIFIER c.286-864_286-857dup
others(8): Show 
c.286-864_286-857dupTTCTTTCT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 662751
chr17:662751 G
G
 GAGAAAGA
others(5): Show 
GAGAAAGAAAGAA
 2 a0003c0004t0004g0014
a0003c0004t0004g0040
a0003c0004t0004g0014
a0003c0004t0004g0040
 2 NA18957.hp1
NA18984.hp1
NA18957.hp1
NA18984.hp1
 intron_variant MODIFIER c.286-868_286-857dup
others(12): Show 
c.286-868_286-857dupTTCTTTCTTTCT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 662751
chr17:662751 G
G
 GAGAAAGA
others(9): Show 
GAGAAAGAAAGAAAGAA
 1 a0003c0004t0006g0016
a0003c0004t0006g0016
 1 NA18962.hp1
NA18962.hp1
 intron_variant MODIFIER c.286-872_286-857dup
others(16): Show 
c.286-872_286-857dupTTCTTTCTTTCTTTCT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 662751
chr17:662751 G
G
 GAGAAAGA
others(13): Show 
GAGAAAGAAAGAAAGAAAGAA
 9 a0003c0004t0003g0018
a0003c0004t0004g0026
a0003c0004t0005g0027
others(6): Show 
a0003c0004t0003g0018
a0003c0004t0004g0026
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0047g0017
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0081g0035
 9 NA18945.hp1
NA18990.hp1
NA18994.hp1
others(6): Show 
NA18945.hp1
NA18990.hp1
NA18994.hp1
NA19060.hp1
NA19080.hp1
NA19081.hp1
NA19091.hp2
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.286-876_286-857dup
others(20): Show 
c.286-876_286-857dupTTCTTTCTTTCTTTCTTTCT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 662751
chr17:662751 G
G
 GAGAAAGA
others(17): Show 
GAGAAAGAAAGAAAGAAAGAAAGAA
 9 a0003c0004t0003g0043
a0003c0004t0004g0021
a0003c0004t0004g0025
others(6): Show 
a0003c0004t0003g0043
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0006g0023
a0003c0004t0022g0004
a0003c0004t0054g0032
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
 9 HG01516.hp2
HG01517.hp1
NA18612.hp2
others(6): Show 
HG01516.hp2
HG01517.hp1
NA18612.hp2
NA18961.hp2
NA18978.hp1
NA18986.hp2
NA19011.hp2
NA19064.hp1
NA19087.hp2
 intron_variant MODIFIER c.286-857_286-856ins
others(24): Show 
c.286-857_286-856insTTCTTTCTTTCTTTCTTTCTTTCT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 662751
chr17:662751 G
G
 GAGAAAGA
others(21): Show 
GAGAAAGAAAGAAAGAAAGAAAGAAAGAA
 6 a0003c0004t0003g0015
a0003c0004t0003g0036
a0003c0004t0006g0022
others(3): Show 
a0003c0004t0003g0015
a0003c0004t0003g0036
a0003c0004t0006g0022
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0071g0037
 6 HG01257.hp2
HG02109.hp1
NA18906.hp1
others(3): Show 
HG01257.hp2
HG02109.hp1
NA18906.hp1
NA18950.hp2
NA18959.hp1
NA18977.hp1
 intron_variant MODIFIER c.286-857_286-856ins
others(28): Show 
c.286-857_286-856insTTCTTTCTTTCTTTCTTTCTTTCTTTCT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 662751
chr17:662751 G
G
 GAGAAAGA
others(25): Show 
GAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA
 2 a0003c0004t0025g0038
a0003c0004t0060g0039
a0003c0004t0025g0038
a0003c0004t0060g0039
 2 HG03831.hp2
NA19068.hp1
HG03831.hp2
NA19068.hp1
 intron_variant MODIFIER c.286-857_286-856ins
others(32): Show 
c.286-857_286-856insTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT
CT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 662751
chr17:662751 G
G
 GAGAAAGA
others(29): Show 
GAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA
 1 a0004c0008t0036g0207
a0004c0008t0036g0207
 1 HG00423.hp1
HG00423.hp1
 intron_variant MODIFIER c.286-857_286-856ins
others(36): Show 
c.286-857_286-856insTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT
CTTTCT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 662751
chr17:662751 GAGAA
GAGAA
 G
G
 67 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(64): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0032g0114
a0001c0001t0034g0126
a0001c0001t0069g0012
a0001c0001t0084g0046
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0097g0199
a0001c0001t0098g0147
a0001c0001t0102g0220
a0001c0001t0105g0201
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0108g0148
a0001c0001t0110g0127
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0118g0195
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0123g0123
a0001c0001t0128g0132
a0001c0001t0134g0154
a0001c0002t0017g0225
a0001c0002t0035g0219
a0001c0002t0038g0224
a0001c0002t0050g0049
a0001c0002t0086g0221
a0001c0002t0100g0223
a0001c0002t0109g0222
a0001c0002t0125g0116
a0001c0002t0143g0226
a0001c0002t0149g0202
a0004c0008t0035g0203
a0004c0008t0103g0227
a0004c0008t0124g0229
a0004c0008t0133g0232
a0004c0008t0142g0228
a0006c0012t0129g0140
 67 HG00099.hp1
HG00140.hp1
HG00423.hp2
others(64): Show 
HG00099.hp1
HG00140.hp1
HG00423.hp2
HG00438.hp1
HG00741.hp2
HG01109.hp2
HG01192.hp1
HG01255.hp2
HG01256.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp2
HG01516.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG02040.hp2
HG02056.hp2
HG02083.hp2
HG02109.hp2
HG02129.hp2
HG02132.hp2
HG02145.hp1
HG02280.hp1
HG02280.hp2
HG02572.hp2
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02723.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02922.hp2
HG03139.hp2
HG03225.hp2
HG03492.hp2
HG03516.hp1
HG03688.hp2
HG03942.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp2
NA18940.hp2
NA18944.hp2
NA18945.hp2
NA18950.hp1
NA18961.hp1
NA18973.hp2
NA18978.hp2
NA18983.hp2
NA18987.hp2
NA18990.hp2
NA19007.hp2
NA19009.hp2
NA19011.hp1
NA19060.hp2
NA19065.hp2
NA19066.hp1
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19079.hp2
NA19081.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
 intron_variant MODIFIER c.286-860_286-857del
others(4): Show 
c.286-860_286-857delTTCT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 662751
chr17:662753 G
G
 C
C
 2 a0001c0002t0001g0094
a0001c0011t0051g0091
a0001c0002t0001g0094
a0001c0011t0051g0091
 2 HG01074.hp2
NA18747.hp2
HG01074.hp2
NA18747.hp2
 intron_variant MODIFIER c.286-858C>G
c.286-858C>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 662753
chr17:662771 A
A
 G
G
 2 a0001c0001t0016g0118
a0001c0001t0101g0200
a0001c0001t0016g0118
a0001c0001t0101g0200
 2 HG03139.hp1
NA18967.hp2
HG03139.hp1
NA18967.hp2
 intron_variant MODIFIER c.286-876T>C
c.286-876T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 662771
chr17:662771 AAG
AAG
 A
A
 31 a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
others(28): Show 
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0007g0062
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0014g0055
a0001c0002t0048g0089
a0001c0002t0058g0052
a0001c0002t0066g0070
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0005t0010g0008
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0044g0096
a0001c0005t0046g0011
a0001c0006t0001g0113
a0001c0006t0039g0003
a0001c0006t0068g0098
a0001c0007t0012g0108
a0001c0007t0012g0110
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0073g0068
a0002c0003t0091g0209
a0002c0003t0104g0208
a0002c0003t0150g0191
 31 HG00280.hp1
HG00323.hp1
HG00621.hp2
others(28): Show 
HG00280.hp1
HG00323.hp1
HG00621.hp2
HG01071.hp2
HG01074.hp1
HG01496.hp2
HG01515.hp2
HG01981.hp1
HG02083.hp1
HG02300.hp1
HG02300.hp2
HG02602.hp1
HG02886.hp1
HG03688.hp1
NA18747.hp1
NA18946.hp2
NA18948.hp1
NA18959.hp2
NA18960.hp2
NA18977.hp2
NA18979.hp1
NA18987.hp1
NA18994.hp2
NA19009.hp1
NA19010.hp1
NA19065.hp1
NA19079.hp1
NA19084.hp1
NA19087.hp1
NA19090.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.286-878_286-877del
others(2): Show 
c.286-878_286-877delCT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 662771
chr17:662773 G
G
 A
A
 2 a0001c0001t0016g0118
a0001c0001t0101g0200
a0001c0001t0016g0118
a0001c0001t0101g0200
 2 HG03139.hp1
NA18967.hp2
HG03139.hp1
NA18967.hp2
 intron_variant MODIFIER c.286-878C>T
c.286-878C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 662773
chr17:662773 G
G
 GAA
GAA
 58 a0001c0001t0117g0230
a0001c0002t0001g0066
a0001c0002t0003g0072
others(55): Show 
a0001c0001t0117g0230
a0001c0002t0001g0066
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0063
a0001c0002t0013g0083
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0043g0064
a0001c0002t0055g0084
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0078g0041
a0001c0002t0079g0086
a0001c0005t0019g0006
a0001c0005t0020g0010
a0001c0005t0045g0009
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0074g0097
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0001c0016t0052g0099
a0002c0003t0008g0217
a0002c0003t0009g0188
a0002c0003t0017g0179
a0002c0003t0018g0172
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0037g0168
a0002c0003t0089g0175
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0099g0192
a0002c0003t0131g0193
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0145g0187
a0002c0003t0148g0174
a0005c0009t0137g0189
a0005c0009t0147g0177
 58 HG00099.hp2
HG00280.hp2
HG00438.hp2
others(55): Show 
HG00099.hp2
HG00280.hp2
HG00438.hp2
HG01070.hp2
HG01071.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01167.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01361.hp1
HG01496.hp1
HG01515.hp1
HG01517.hp2
HG01928.hp2
HG01978.hp2
HG01981.hp2
HG02074.hp2
HG02129.hp1
HG02132.hp1
HG02135.hp1
HG02135.hp2
HG02293.hp2
HG03491.hp1
HG03492.hp1
HG03516.hp2
HG04199.hp1
HG04204.hp2
NA18906.hp2
NA18940.hp1
NA18944.hp1
NA18948.hp2
NA18955.hp1
NA18957.hp2
NA18960.hp1
NA18962.hp2
NA18967.hp1
NA18973.hp1
NA18979.hp2
NA18983.hp1
NA19000.hp1
NA19007.hp1
NA19010.hp2
NA19066.hp2
NA19070.hp1
NA19074.hp1
NA19080.hp2
NA19084.hp2
NA19091.hp1
NA20805.hp2
 intron_variant MODIFIER c.286-879_286-878ins
others(2): Show 
c.286-879_286-878insTT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 662773
chr17:662773 G
G
 GAAAGAA
GAAAGAA
 7 a0001c0002t0001g0094
a0001c0005t0042g0044
a0002c0003t0009g0218
others(4): Show 
a0001c0002t0001g0094
a0001c0005t0042g0044
a0002c0003t0009g0218
a0002c0003t0018g0214
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0136g0216
 7 HG00323.hp2
HG00621.hp1
HG02056.hp1
others(4): Show 
HG00323.hp2
HG00621.hp1
HG02056.hp1
HG03831.hp1
NA18747.hp2
NA18986.hp1
NA19000.hp2
 intron_variant MODIFIER c.286-879_286-878ins
others(6): Show 
c.286-879_286-878insTTCTTT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 662773
chr17:662773 G
G
 GAAAGAAA
others(3): Show 
GAAAGAAAGAA
 6 a0002c0003t0009g0186
a0002c0003t0018g0231
a0002c0003t0085g0184
others(3): Show 
a0002c0003t0009g0186
a0002c0003t0018g0231
a0002c0003t0085g0184
a0002c0003t0090g0171
a0002c0003t0144g0215
a0005c0009t0130g0178
 6 HG02040.hp1
HG02738.hp2
HG03491.hp2
others(3): Show 
HG02040.hp1
HG02738.hp2
HG03491.hp2
HG03942.hp1
NA18612.hp1
NA18946.hp1
 intron_variant MODIFIER c.286-879_286-878ins
others(10): Show 
c.286-879_286-878insTTCTTTCTTT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 662773
chr17:662773 G
G
 GAAAGAAA
others(7): Show 
GAAAGAAAGAAAGAA
 2 a0002c0003t0008g0180
a0002c0003t0009g0185
a0002c0003t0008g0180
a0002c0003t0009g0185
 2 HG01928.hp1
HG02293.hp1
HG01928.hp1
HG02293.hp1
 intron_variant MODIFIER c.286-879_286-878ins
others(14): Show 
c.286-879_286-878insTTCTTTCTTTCTTT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 662773
chr17:662773 G
G
 GAAAGAAA
others(23): Show 
GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA
 1 a0001c0011t0051g0091
a0001c0011t0051g0091
 1 HG01074.hp2
HG01074.hp2
 intron_variant MODIFIER c.286-879_286-878ins
others(30): Show 
c.286-879_286-878insTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 662773
chr17:662786 A
A
 G
G
 1 a0001c0005t0045g0009
a0001c0005t0045g0009
 1 HG02135.hp2
HG02135.hp2
 intron_variant MODIFIER c.286-891T>C
c.286-891T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 662786
chr17:662787 A
A
 G
G
 106 a0001c0001t0117g0230
a0001c0002t0001g0056
a0001c0002t0001g0066
others(103): Show 
a0001c0001t0117g0230
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0094
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0066g0070
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0078g0041
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0046g0011
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0001c0011t0051g0091
a0001c0016t0052g0099
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0017g0179
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0018g0231
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0073g0068
a0002c0003t0085g0184
a0002c0003t0089g0175
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0099g0192
a0002c0003t0104g0208
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0145g0187
a0002c0003t0148g0174
a0002c0003t0150g0191
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
 106 HG00099.hp2
HG00140.hp2
HG00280.hp1
others(103): Show 
HG00099.hp2
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00438.hp2
HG00621.hp1
HG00621.hp2
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01361.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp2
HG01928.hp1
HG01928.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02056.hp1
HG02074.hp2
HG02083.hp1
HG02129.hp1
HG02132.hp1
HG02135.hp1
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02602.hp1
HG02738.hp2
HG02886.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03516.hp2
HG03688.hp1
HG03831.hp1
HG03942.hp1
HG04199.hp1
HG04204.hp2
NA18612.hp1
NA18747.hp1
NA18747.hp2
NA18906.hp2
NA18940.hp1
NA18944.hp1
NA18946.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18955.hp1
NA18957.hp2
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18962.hp2
NA18967.hp1
NA18973.hp1
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA18994.hp2
NA19000.hp1
NA19000.hp2
NA19007.hp1
NA19009.hp1
NA19010.hp1
NA19010.hp2
NA19065.hp1
NA19066.hp2
NA19070.hp1
NA19074.hp1
NA19079.hp1
NA19080.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19090.hp1
NA19091.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.286-892T>C
c.286-892T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 662787
chr17:662791 G
G
 A
A
 3 a0001c0002t0078g0041
a0001c0005t0045g0009
a0001c0011t0051g0091
a0001c0002t0078g0041
a0001c0005t0045g0009
a0001c0011t0051g0091
 3 HG01074.hp2
HG02135.hp2
HG03516.hp2
HG01074.hp2
HG02135.hp2
HG03516.hp2
 intron_variant MODIFIER c.286-896C>T
c.286-896C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 662791
chr17:662791 G
G
 GAGAAAGA
others(7): Show 
GAGAAAGAAAGAAAA
 1 a0002c0003t0145g0187
a0002c0003t0145g0187
 1 HG04199.hp1
HG04199.hp1
 intron_variant MODIFIER c.286-897_286-896ins
others(14): Show 
c.286-897_286-896insTTTTCTTTCTTTCT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 662791
chr17:662793 A
A
 G
G
 1 a0001c0005t0020g0010
a0001c0005t0020g0010
 1 NA19091.hp1
NA19091.hp1
 intron_variant MODIFIER c.286-898T>C
c.286-898T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 662793
chr17:662793 AAG
AAG
 A
A
 4 a0001c0002t0014g0074
a0001c0006t0074g0097
a0001c0007t0011g0105
others(1): Show 
a0001c0002t0014g0074
a0001c0006t0074g0097
a0001c0007t0011g0105
a0001c0007t0011g0106
 4 HG01099.hp2
HG01255.hp1
HG01515.hp1
others(1): Show 
HG01099.hp2
HG01255.hp1
HG01515.hp1
HG01517.hp2
 intron_variant MODIFIER c.286-900_286-899del
others(2): Show 
c.286-900_286-899delCT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 662793
chr17:662795 G
G
 A
A
 1 a0001c0005t0020g0010
a0001c0005t0020g0010
 1 NA19091.hp1
NA19091.hp1
 intron_variant MODIFIER c.286-900C>T
c.286-900C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 662795
chr17:662795 G
G
 GAAAGAAA
others(25): Show 
GAAAGAAAGAAAGAAAGAGAAAGAAAGAAAAAA
 2 a0002c0003t0009g0188
a0002c0003t0017g0179
a0002c0003t0009g0188
a0002c0003t0017g0179
 2 NA18957.hp2
NA19080.hp2
NA18957.hp2
NA19080.hp2
 intron_variant MODIFIER c.286-901_286-900ins
others(32): Show 
c.286-901_286-900insTTTTTTCTTTCTTTCTCTTTCTTTCTTTCT
TT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 662795
chr17:662795 G
G
 GAAAGAAA
others(21): Show 
GAAAGAAAGAAAGAGAAAGAAAGAAAAAA
 6 a0002c0003t0018g0172
a0002c0003t0037g0168
a0002c0003t0092g0190
others(3): Show 
a0002c0003t0018g0172
a0002c0003t0037g0168
a0002c0003t0092g0190
a0002c0003t0148g0174
a0005c0009t0137g0189
a0005c0009t0147g0177
 6 HG02129.hp1
HG02132.hp1
NA18955.hp1
others(3): Show 
HG02129.hp1
HG02132.hp1
NA18955.hp1
NA18979.hp2
NA19066.hp2
NA19084.hp2
 intron_variant MODIFIER c.286-901_286-900ins
others(28): Show 
c.286-901_286-900insTTTTTTCTTTCTTTCTCTTTCTTTCTTT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 662795
chr17:662795 G
G
 GAAGAGAA
others(12): Show 
GAAGAGAAAGAAAGAAAAAA
 1 a0002c0003t0093g0173
a0002c0003t0093g0173
 1 HG01167.hp1
HG01167.hp1
 intron_variant MODIFIER c.286-901_286-900ins
others(19): Show 
c.286-901_286-900insTTTTTTCTTTCTTTCTCTT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 662795
chr17:662797 G
G
 A
A
 13 a0001c0002t0003g0072
a0001c0002t0014g0077
a0001c0002t0024g0073
others(10): Show 
a0001c0002t0003g0072
a0001c0002t0014g0077
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0076g0050
a0001c0002t0078g0041
a0001c0005t0045g0009
a0001c0006t0053g0102
a0001c0007t0012g0111
a0001c0011t0051g0091
a0001c0016t0052g0099
a0002c0003t0089g0175
a0002c0003t0145g0187
 13 HG00099.hp2
HG01074.hp2
HG01081.hp1
others(10): Show 
HG00099.hp2
HG01074.hp2
HG01081.hp1
HG01168.hp2
HG01361.hp1
HG01496.hp1
HG01978.hp2
HG02074.hp2
HG02135.hp2
HG03516.hp2
HG04199.hp1
NA18967.hp1
NA18973.hp1
 intron_variant MODIFIER c.286-902C>T
c.286-902C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 662797
chr17:662799 A
A
 AAG
AAG
 9 a0002c0003t0009g0188
a0002c0003t0017g0179
a0002c0003t0018g0172
others(6): Show 
a0002c0003t0009g0188
a0002c0003t0017g0179
a0002c0003t0018g0172
a0002c0003t0037g0168
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0148g0174
a0005c0009t0137g0189
a0005c0009t0147g0177
 9 HG01167.hp1
HG02129.hp1
HG02132.hp1
others(6): Show 
HG01167.hp1
HG02129.hp1
HG02132.hp1
NA18955.hp1
NA18957.hp2
NA18979.hp2
NA19066.hp2
NA19080.hp2
NA19084.hp2
 intron_variant MODIFIER c.286-906_286-905dup
others(2): Show 
c.286-906_286-905dupCT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 662799
chr17:662799 A
A
 AAGAAAAA
others(7): Show 
AAGAAAAAAAGAAAG
 1 a0002c0003t0009g0185
a0002c0003t0009g0185
 1 HG01928.hp1
HG01928.hp1
 intron_variant MODIFIER c.286-905_286-904ins
others(14): Show 
c.286-905_286-904insCTTTCTTTTTTTCT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 662799
chr17:662799 A
A
 AAGAAAGA
others(12): Show 
AAGAAAGAAAAAAAAGAAAG
 3 a0002c0003t0009g0186
a0002c0003t0018g0214
a0002c0003t0085g0184
a0002c0003t0009g0186
a0002c0003t0018g0214
a0002c0003t0085g0184
 3 HG00621.hp1
HG02040.hp1
HG03491.hp2
HG00621.hp1
HG02040.hp1
HG03491.hp2
 intron_variant MODIFIER c.286-905_286-904ins
others(19): Show 
c.286-905_286-904insCTTTCTTTTTTTTCTTTCT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 662799
chr17:662799 A
A
 AAGAAAGA
others(11): Show 
AAGAAAGAAAAAAAGAAAG
 10 a0001c0002t0001g0094
a0002c0003t0008g0217
a0002c0003t0009g0218
others(7): Show 
a0001c0002t0001g0094
a0002c0003t0008g0217
a0002c0003t0009g0218
a0002c0003t0018g0231
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0037g0115
a0002c0003t0136g0216
a0002c0003t0139g0167
a0005c0009t0130g0178
 10 HG01099.hp1
HG02056.hp1
HG03831.hp1
others(7): Show 
HG01099.hp1
HG02056.hp1
HG03831.hp1
HG03942.hp1
NA18747.hp2
NA18946.hp1
NA18983.hp1
NA18986.hp1
NA19000.hp1
NA19074.hp1
 intron_variant MODIFIER c.286-922_286-905dup
others(18): Show 
c.286-922_286-905dupCTTTCTTTTTTTCTTTCT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 662799
chr17:662799 A
A
 G
G
 12 a0001c0002t0003g0072
a0001c0002t0014g0077
a0001c0002t0024g0073
others(9): Show 
a0001c0002t0003g0072
a0001c0002t0014g0077
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0076g0050
a0001c0002t0078g0041
a0001c0005t0045g0009
a0001c0006t0053g0102
a0001c0007t0012g0111
a0001c0011t0051g0091
a0001c0016t0052g0099
a0002c0003t0145g0187
 12 HG00099.hp2
HG01074.hp2
HG01081.hp1
others(9): Show 
HG00099.hp2
HG01074.hp2
HG01081.hp1
HG01168.hp2
HG01361.hp1
HG01496.hp1
HG01978.hp2
HG02135.hp2
HG03516.hp2
HG04199.hp1
NA18967.hp1
NA18973.hp1
 intron_variant MODIFIER c.286-904T>C
c.286-904T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 662799
chr17:662801 G
G
 T
T
 1 a0001c0005t0020g0010
a0001c0005t0020g0010
 1 NA19091.hp1
NA19091.hp1
 intron_variant MODIFIER c.286-906C>A
c.286-906C>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 662801
chr17:662805 G
G
 A
A
 4 a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0005t0080g0092
others(1): Show 
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0005t0080g0092
a0002c0003t0146g0170
 4 NA18955.hp2
NA18984.hp2
NA19064.hp2
others(1): Show 
NA18955.hp2
NA18984.hp2
NA19064.hp2
NA19090.hp2
 intron_variant MODIFIER c.286-910C>T
c.286-910C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 662805
chr17:662806 A
A
 AAAAAAAG
others(9): Show 
AAAAAAAGAAGAGAAAG
 1 a0001c0005t0020g0010
a0001c0005t0020g0010
 1 NA19091.hp1
NA19091.hp1
 intron_variant MODIFIER c.286-912_286-911ins
others(16): Show 
c.286-912_286-911insCTTTCTCTTCTTTTTT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 662806
chr17:662807 A
A
 G
G
 4 a0001c0002t0014g0074
a0001c0006t0074g0097
a0001c0007t0011g0105
others(1): Show 
a0001c0002t0014g0074
a0001c0006t0074g0097
a0001c0007t0011g0105
a0001c0007t0011g0106
 4 HG01099.hp2
HG01255.hp1
HG01515.hp1
others(1): Show 
HG01099.hp2
HG01255.hp1
HG01515.hp1
HG01517.hp2
 intron_variant MODIFIER c.286-912T>C
c.286-912T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 662807
chr17:662809 A
A
 G
G
 12 a0001c0002t0003g0072
a0001c0002t0014g0077
a0001c0002t0024g0073
others(9): Show 
a0001c0002t0003g0072
a0001c0002t0014g0077
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0065g0093
a0001c0002t0076g0050
a0001c0002t0077g0095
a0001c0005t0080g0092
a0001c0006t0053g0102
a0001c0007t0012g0111
a0001c0016t0052g0099
a0002c0003t0146g0170
 12 HG00099.hp2
HG01081.hp1
HG01168.hp2
others(9): Show 
HG00099.hp2
HG01081.hp1
HG01168.hp2
HG01361.hp1
HG01496.hp1
HG01978.hp2
NA18955.hp2
NA18967.hp1
NA18973.hp1
NA18984.hp2
NA19064.hp2
NA19090.hp2
 intron_variant MODIFIER c.286-914T>C
c.286-914T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 662809
chr17:662811 A
A
 G
G
 4 a0001c0002t0014g0074
a0001c0006t0074g0097
a0001c0007t0011g0105
others(1): Show 
a0001c0002t0014g0074
a0001c0006t0074g0097
a0001c0007t0011g0105
a0001c0007t0011g0106
 4 HG01099.hp2
HG01255.hp1
HG01515.hp1
others(1): Show 
HG01099.hp2
HG01255.hp1
HG01515.hp1
HG01517.hp2
 intron_variant MODIFIER c.286-916T>C
c.286-916T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 662811
chr17:662811 AAGAAAGA
others(3): Show 
AAGAAAGAAAG
 A
A
 1 a0001c0002t0075g0051
a0001c0002t0075g0051
 1 NA19070.hp1
NA19070.hp1
 intron_variant MODIFIER c.286-926_286-917del
others(10): Show 
c.286-926_286-917delCTTTCTTTCT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 662811
chr17:662813 G
G
 A
A
 12 a0001c0002t0003g0072
a0001c0002t0014g0074
a0001c0002t0014g0077
others(9): Show 
a0001c0002t0003g0072
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0076g0050
a0001c0006t0053g0102
a0001c0006t0074g0097
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0111
a0001c0016t0052g0099
 12 HG00099.hp2
HG01081.hp1
HG01099.hp2
others(9): Show 
HG00099.hp2
HG01081.hp1
HG01099.hp2
HG01168.hp2
HG01255.hp1
HG01361.hp1
HG01496.hp1
HG01515.hp1
HG01517.hp2
HG01978.hp2
NA18967.hp1
NA18973.hp1
 intron_variant MODIFIER c.286-918C>T
c.286-918C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 662813
chr17:662815 A
A
 AAG
AAG
 23 a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0005t0010g0008
others(20): Show 
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0046g0011
a0001c0005t0080g0092
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0036g0176
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0099g0192
a0002c0003t0104g0208
a0002c0003t0131g0193
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0146g0170
a0002c0003t0150g0191
 23 HG00323.hp2
HG00438.hp2
HG01070.hp2
others(20): Show 
HG00323.hp2
HG00438.hp2
HG01070.hp2
HG01071.hp1
HG01981.hp1
HG02083.hp1
HG02293.hp1
HG02300.hp1
HG02602.hp1
HG02738.hp2
NA18612.hp1
NA18747.hp1
NA18955.hp2
NA18960.hp2
NA18984.hp2
NA18987.hp1
NA18994.hp2
NA19000.hp2
NA19010.hp1
NA19010.hp2
NA19064.hp2
NA19087.hp1
NA19090.hp2
 intron_variant MODIFIER c.286-922_286-921dup
others(2): Show 
c.286-922_286-921dupCT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 662815
chr17:662815 A
A
 G
G
 4 a0001c0002t0014g0074
a0001c0006t0074g0097
a0001c0007t0011g0105
others(1): Show 
a0001c0002t0014g0074
a0001c0006t0074g0097
a0001c0007t0011g0105
a0001c0007t0011g0106
 4 HG01099.hp2
HG01255.hp1
HG01515.hp1
others(1): Show 
HG01099.hp2
HG01255.hp1
HG01515.hp1
HG01517.hp2
 intron_variant MODIFIER c.286-920T>C
c.286-920T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 662815
chr17:662817 G
G
 A
A
 4 a0001c0002t0014g0074
a0001c0006t0074g0097
a0001c0007t0011g0105
others(1): Show 
a0001c0002t0014g0074
a0001c0006t0074g0097
a0001c0007t0011g0105
a0001c0007t0011g0106
 4 HG01099.hp2
HG01255.hp1
HG01515.hp1
others(1): Show 
HG01099.hp2
HG01255.hp1
HG01515.hp1
HG01517.hp2
 intron_variant MODIFIER c.286-922C>T
c.286-922C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 662817
chr17:662819 A
A
 G
G
 46 a0001c0001t0117g0230
a0001c0002t0001g0056
a0001c0002t0001g0066
others(43): Show 
a0001c0001t0117g0230
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0022g0085
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0066g0070
a0001c0002t0072g0071
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0002c0003t0073g0068
 46 HG00140.hp2
HG00280.hp1
HG00280.hp2
others(43): Show 
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00621.hp2
HG01071.hp2
HG01074.hp1
HG01081.hp2
HG01106.hp1
HG01167.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01256.hp1
HG01258.hp1
HG01496.hp2
HG01515.hp2
HG01928.hp2
HG01981.hp2
HG02135.hp1
HG02293.hp2
HG02300.hp2
HG02886.hp1
HG03491.hp1
HG03492.hp1
HG03688.hp1
HG04204.hp2
NA18906.hp2
NA18940.hp1
NA18944.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18959.hp2
NA18960.hp1
NA18962.hp2
NA18977.hp2
NA18979.hp1
NA19007.hp1
NA19009.hp1
NA19065.hp1
NA19079.hp1
NA19084.hp1
NA19090.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.286-924T>C
c.286-924T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 662819
chr17:662821 G
G
 A
A
 50 a0001c0001t0117g0230
a0001c0002t0001g0056
a0001c0002t0001g0066
others(47): Show 
a0001c0001t0117g0230
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0022g0085
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0066g0070
a0001c0002t0072g0071
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0002c0003t0073g0068
 50 HG00140.hp2
HG00280.hp1
HG00280.hp2
others(47): Show 
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00621.hp2
HG01071.hp2
HG01074.hp1
HG01081.hp2
HG01099.hp2
HG01106.hp1
HG01167.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp2
HG01928.hp2
HG01981.hp2
HG02135.hp1
HG02293.hp2
HG02300.hp2
HG02886.hp1
HG03491.hp1
HG03492.hp1
HG03688.hp1
HG04204.hp2
NA18906.hp2
NA18940.hp1
NA18944.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18959.hp2
NA18960.hp1
NA18962.hp2
NA18977.hp2
NA18979.hp1
NA19007.hp1
NA19009.hp1
NA19065.hp1
NA19079.hp1
NA19084.hp1
NA19090.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.286-926C>T
c.286-926C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 662821
chr17:662823 G
G
 A
A
 19 a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
others(16): Show 
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0046g0011
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0036g0176
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0099g0192
a0002c0003t0104g0208
a0002c0003t0131g0193
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0150g0191
 19 HG00323.hp2
HG00438.hp2
HG01070.hp2
others(16): Show 
HG00323.hp2
HG00438.hp2
HG01070.hp2
HG01071.hp1
HG01981.hp1
HG02083.hp1
HG02293.hp1
HG02300.hp1
HG02602.hp1
HG02738.hp2
NA18612.hp1
NA18747.hp1
NA18960.hp2
NA18987.hp1
NA18994.hp2
NA19000.hp2
NA19010.hp1
NA19010.hp2
NA19087.hp1
 intron_variant MODIFIER c.286-928C>T
c.286-928C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 662823
chr17:662825 AAG
AAG
 A
A
 10 a0001c0002t0003g0072
a0001c0002t0007g0081
a0001c0002t0014g0077
others(7): Show 
a0001c0002t0003g0072
a0001c0002t0007g0081
a0001c0002t0014g0077
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0076g0050
a0001c0006t0053g0102
a0001c0007t0012g0111
a0001c0015t0126g0149
a0001c0016t0052g0099
 10 HG00099.hp2
HG01081.hp1
HG01168.hp2
others(7): Show 
HG00099.hp2
HG01081.hp1
HG01168.hp2
HG01361.hp1
HG01496.hp1
HG01978.hp2
HG02723.hp1
NA18967.hp1
NA18973.hp1
NA19065.hp1
 intron_variant MODIFIER c.286-932_286-931del
others(2): Show 
c.286-932_286-931delCT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 662825
chr17:662827 G
G
 A
A
 19 a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
others(16): Show 
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0046g0011
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0036g0176
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0099g0192
a0002c0003t0104g0208
a0002c0003t0131g0193
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0150g0191
 19 HG00323.hp2
HG00438.hp2
HG01070.hp2
others(16): Show 
HG00323.hp2
HG00438.hp2
HG01070.hp2
HG01071.hp1
HG01981.hp1
HG02083.hp1
HG02293.hp1
HG02300.hp1
HG02602.hp1
HG02738.hp2
NA18612.hp1
NA18747.hp1
NA18960.hp2
NA18987.hp1
NA18994.hp2
NA19000.hp2
NA19010.hp1
NA19010.hp2
NA19087.hp1
 intron_variant MODIFIER c.286-932C>T
c.286-932C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 662827
chr17:662827 G
G
 GAAAGGA
GAAAGGA
 3 a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0005t0080g0092
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0005t0080g0092
 3 NA18955.hp2
NA18984.hp2
NA19064.hp2
NA18955.hp2
NA18984.hp2
NA19064.hp2
 intron_variant MODIFIER c.286-933_286-932ins
others(6): Show 
c.286-933_286-932insTCCTTT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 662827
chr17:662829 G
G
 A
A
 45 a0001c0001t0117g0230
a0001c0002t0001g0056
a0001c0002t0001g0066
others(42): Show 
a0001c0001t0117g0230
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0022g0085
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0066g0070
a0001c0002t0072g0071
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0002c0003t0073g0068
 45 HG00140.hp2
HG00280.hp1
HG00280.hp2
others(42): Show 
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00621.hp2
HG01071.hp2
HG01074.hp1
HG01081.hp2
HG01106.hp1
HG01167.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01256.hp1
HG01258.hp1
HG01496.hp2
HG01515.hp2
HG01928.hp2
HG01981.hp2
HG02135.hp1
HG02293.hp2
HG02300.hp2
HG02886.hp1
HG03491.hp1
HG03492.hp1
HG03688.hp1
HG04204.hp2
NA18906.hp2
NA18940.hp1
NA18944.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18959.hp2
NA18960.hp1
NA18962.hp2
NA18977.hp2
NA18979.hp1
NA19007.hp1
NA19009.hp1
NA19079.hp1
NA19084.hp1
NA19090.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.286-934C>T
c.286-934C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 662829
chr17:662830 A
A
 AAAGG
AAAGG
 3 a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0097g0199
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0097g0199
 3 HG02622.hp2
HG02922.hp2
HG03139.hp2
HG02622.hp2
HG02922.hp2
HG03139.hp2
 intron_variant MODIFIER c.286-936_286-935ins
others(4): Show 
c.286-936_286-935insCCTT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 662830
chr17:662830 A
A
 G
G
 4 a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0005t0080g0092
others(1): Show 
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0005t0080g0092
a0002c0003t0146g0170
 4 NA18955.hp2
NA18984.hp2
NA19064.hp2
others(1): Show 
NA18955.hp2
NA18984.hp2
NA19064.hp2
NA19090.hp2
 intron_variant MODIFIER c.286-935T>C
c.286-935T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 662830
chr17:662832 AGAAAGG
AGAAAGG
 A
A
 45 a0001c0001t0117g0230
a0001c0002t0001g0056
a0001c0002t0001g0066
others(42): Show 
a0001c0001t0117g0230
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0022g0085
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0066g0070
a0001c0002t0072g0071
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0002c0003t0073g0068
 45 HG00140.hp2
HG00280.hp1
HG00280.hp2
others(42): Show 
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00621.hp2
HG01071.hp2
HG01074.hp1
HG01081.hp2
HG01106.hp1
HG01167.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01256.hp1
HG01258.hp1
HG01496.hp2
HG01515.hp2
HG01928.hp2
HG01981.hp2
HG02135.hp1
HG02293.hp2
HG02300.hp2
HG02886.hp1
HG03491.hp1
HG03492.hp1
HG03688.hp1
HG04204.hp2
NA18906.hp2
NA18940.hp1
NA18944.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18959.hp2
NA18960.hp1
NA18962.hp2
NA18977.hp2
NA18979.hp1
NA19007.hp1
NA19009.hp1
NA19079.hp1
NA19084.hp1
NA19090.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.286-943_286-938del
others(6): Show 
c.286-943_286-938delCCTTTC
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 662832
chr17:662833 G
G
 A
A
 1 a0001c0002t0007g0081
a0001c0002t0007g0081
 1 NA19065.hp1
NA19065.hp1
 intron_variant MODIFIER c.286-938C>T
c.286-938C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 662833
chr17:662834 A
A
 AAAGAGAA
others(33): Show 
AAAGAGAAAGAGAAAGAAAGAAAGGAAGGAAGGAAGGAAGG
 1 a0001c0005t0042g0044
a0001c0005t0042g0044
 1 NA19000.hp2
NA19000.hp2
 intron_variant MODIFIER c.286-940_286-939ins
others(40): Show 
c.286-940_286-939insCCTTCCTTCCTTCCTTCCTTTCTTTCTTTC
TCTTTCTCTT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 662834
chr17:662834 A
A
 AAAGAGAA
others(25): Show 
AAAGAGAAAGAGAAAGAAAGGAAGGAAGGAAGG
 3 a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0044g0096
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0044g0096
 3 NA18747.hp1
NA18960.hp2
NA19010.hp2
NA18747.hp1
NA18960.hp2
NA19010.hp2
 intron_variant MODIFIER c.286-940_286-939ins
others(32): Show 
c.286-940_286-939insCCTTCCTTCCTTCCTTTCTTTCTCTTTCTC
TT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 662834
chr17:662834 A
A
 AAAGAGAA
others(29): Show 
AAAGAGAAAGAGAAAGAAAGGAAGGAAGGAAGGAAGG
 2 a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0019g0007
a0001c0005t0020g0005
 2 HG02602.hp1
NA19087.hp1
HG02602.hp1
NA19087.hp1
 intron_variant MODIFIER c.286-940_286-939ins
others(36): Show 
c.286-940_286-939insCCTTCCTTCCTTCCTTCCTTTCTTTCTCTT
TCTCTT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 662834
chr17:662834 A
A
 AAAGAGAA
others(37): Show 
AAAGAGAAAGAGAAAGAAAGGAAGGAAGGAAGGAAGGAAGGAAGG
 1 a0001c0005t0046g0011
a0001c0005t0046g0011
 1 NA18994.hp2
NA18994.hp2
 intron_variant MODIFIER c.286-940_286-939ins
others(44): Show 
c.286-940_286-939insCCTTCCTTCCTTCCTTCCTTCCTTCCTTTC
TTTCTCTTTCTCTT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 662834
chr17:662834 A
A
 AAAGAGAA
others(25): Show 
AAAGAGAAAGAGAAAGGAAGGAAGGAAGGAAGG
 10 a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
others(7): Show 
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0036g0176
a0002c0003t0091g0209
a0002c0003t0099g0192
a0002c0003t0104g0208
a0002c0003t0131g0193
a0002c0003t0140g0194
a0002c0003t0144g0215
 10 HG00323.hp2
HG00438.hp2
HG01070.hp2
others(7): Show 
HG00323.hp2
HG00438.hp2
HG01070.hp2
HG01071.hp1
HG02083.hp1
HG02293.hp1
HG02300.hp1
HG02738.hp2
NA18987.hp1
NA19010.hp1
 intron_variant MODIFIER c.286-940_286-939ins
others(32): Show 
c.286-940_286-939insCCTTCCTTCCTTCCTTCCTTTCTCTTTCTC
TT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 662834
chr17:662834 A
A
 AAAGAGAA
others(29): Show 
AAAGAGAAAGAGAAAGGAAGGAAGGAAGGAAGGAAGG
 2 a0002c0003t0090g0171
a0002c0003t0150g0191
a0002c0003t0090g0171
a0002c0003t0150g0191
 2 HG01981.hp1
NA18612.hp1
HG01981.hp1
NA18612.hp1
 intron_variant MODIFIER c.286-940_286-939ins
others(36): Show 
c.286-940_286-939insCCTTCCTTCCTTCCTTCCTTCCTTTCTCTT
TCTCTT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 662834
chr17:662834 A
A
 AAAGG
AAAGG
 9 a0001c0001t0028g0196
a0001c0001t0031g0153
a0001c0001t0031g0155
others(6): Show 
a0001c0001t0028g0196
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0134g0154
a0001c0014t0135g0166
a0003c0004t0004g0025
a0003c0004t0004g0026
 9 HG01891.hp2
HG02572.hp1
HG02572.hp2
others(6): Show 
HG01891.hp2
HG02572.hp1
HG02572.hp2
HG02723.hp2
HG03139.hp1
NA18612.hp2
NA18990.hp1
NA20129.hp2
NA20300.hp1
 intron_variant MODIFIER c.286-943_286-940dup
others(4): Show 
c.286-943_286-940dupCCTT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 662834
chr17:662834 A
A
 AAAGGAAG
others(1): Show 
AAAGGAAGG
 3 a0001c0001t0087g0198
a0001c0001t0105g0201
a0001c0011t0051g0091
a0001c0001t0087g0198
a0001c0001t0105g0201
a0001c0011t0051g0091
 3 HG01074.hp2
HG01109.hp2
HG02818.hp1
HG01074.hp2
HG01109.hp2
HG02818.hp1
 intron_variant MODIFIER c.286-947_286-940dup
others(8): Show 
c.286-947_286-940dupCCTTCCTT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 662834
chr17:662834 A
A
 AAAGGAAG
others(5): Show 
AAAGGAAGGAAGG
 1 a0001c0002t0001g0094
a0001c0002t0001g0094
 1 NA18747.hp2
NA18747.hp2
 intron_variant MODIFIER c.286-951_286-940dup
others(12): Show 
c.286-951_286-940dupCCTTCCTTCCTT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 662834
chr17:662834 A
A
 AAAGGAAG
others(13): Show 
AAAGGAAGGAAGGAAGGAAGG
 2 a0001c0005t0020g0010
a0001c0005t0045g0009
a0001c0005t0020g0010
a0001c0005t0045g0009
 2 HG02135.hp2
NA19091.hp1
HG02135.hp2
NA19091.hp1
 intron_variant MODIFIER c.286-959_286-940dup
others(20): Show 
c.286-959_286-940dupCCTTCCTTCCTTCCTTCCTT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 662834
chr17:662834 A
A
 G
G
 33 a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0088g0152
others(30): Show 
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0088g0152
a0001c0001t0097g0199
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0005t0080g0092
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0017g0179
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0018g0231
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0085g0184
a0002c0003t0089g0175
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0145g0187
a0002c0003t0146g0170
a0002c0003t0148g0174
a0004c0008t0036g0207
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
 33 HG00423.hp1
HG00621.hp1
HG01099.hp1
others(30): Show 
HG00423.hp1
HG00621.hp1
HG01099.hp1
HG01167.hp1
HG01884.hp1
HG01928.hp1
HG02040.hp1
HG02056.hp1
HG02074.hp2
HG02129.hp1
HG02132.hp1
HG02622.hp2
HG02922.hp2
HG03139.hp2
HG03491.hp2
HG03831.hp1
HG03942.hp1
HG04199.hp1
NA18946.hp1
NA18955.hp1
NA18955.hp2
NA18957.hp2
NA18979.hp2
NA18983.hp1
NA18984.hp2
NA18986.hp1
NA19000.hp1
NA19064.hp2
NA19066.hp2
NA19074.hp1
NA19080.hp2
NA19084.hp2
NA19090.hp2
 intron_variant MODIFIER c.286-939T>C
c.286-939T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 662834
chr17:662834 AAAGG
AAAGG
 A
A
 29 a0001c0001t0017g0158
a0001c0001t0032g0204
a0001c0001t0033g0205
others(26): Show 
a0001c0001t0017g0158
a0001c0001t0032g0204
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0034g0162
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0122g0160
a0001c0001t0127g0159
a0001c0001t0138g0161
a0001c0001t0141g0165
a0001c0002t0017g0225
a0001c0002t0035g0219
a0001c0002t0038g0224
a0001c0002t0049g0048
a0001c0002t0086g0221
a0001c0002t0100g0223
a0001c0002t0109g0222
a0001c0002t0125g0116
a0001c0002t0143g0226
a0003c0004t0003g0018
a0003c0004t0003g0043
a0003c0004t0064g0042
a0003c0004t0071g0037
a0004c0008t0103g0227
a0004c0008t0124g0229
a0004c0008t0133g0232
a0004c0008t0142g0228
a0007c0013t0132g0163
 29 HG00099.hp1
HG00140.hp1
HG00438.hp1
others(26): Show 
HG00099.hp1
HG00140.hp1
HG00438.hp1
HG00741.hp1
HG01106.hp2
HG01109.hp1
HG01257.hp1
HG01258.hp2
HG01346.hp1
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01891.hp1
HG02145.hp1
HG02145.hp2
HG02886.hp2
HG02895.hp2
HG02922.hp1
HG03225.hp1
HG04204.hp1
NA18906.hp1
NA18944.hp2
NA18973.hp2
NA18990.hp2
NA19007.hp2
NA19011.hp1
NA19066.hp1
NA20129.hp1
NA20805.hp1
 intron_variant MODIFIER c.286-943_286-940del
others(4): Show 
c.286-943_286-940delCCTT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 662834
chr17:662834 AAAGGAAG
others(1): Show 
AAAGGAAGG
 A
A
 38 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(35): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0032g0114
a0001c0001t0034g0126
a0001c0001t0069g0012
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0098g0147
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0110g0127
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0119g0144
a0001c0001t0121g0143
a0001c0001t0123g0123
a0001c0001t0128g0132
a0001c0002t0050g0049
a0002c0010t0038g0156
a0006c0012t0129g0140
 38 HG00423.hp2
HG01255.hp2
HG01256.hp2
others(35): Show 
HG00423.hp2
HG01255.hp2
HG01256.hp2
HG01361.hp2
HG01884.hp2
HG02040.hp2
HG02056.hp2
HG02083.hp2
HG02109.hp2
HG02129.hp2
HG02132.hp2
HG02280.hp1
HG02280.hp2
HG02602.hp2
HG02818.hp2
HG02895.hp1
HG03225.hp2
HG03492.hp2
HG03688.hp2
HG04199.hp2
NA18940.hp2
NA18945.hp2
NA18950.hp1
NA18961.hp1
NA18967.hp2
NA18978.hp2
NA18983.hp2
NA18987.hp2
NA19009.hp2
NA19060.hp2
NA19065.hp2
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19079.hp2
NA19081.hp2
NA20300.hp2
NA21309.hp1
 intron_variant MODIFIER c.286-947_286-940del
others(8): Show 
c.286-947_286-940delCCTTCCTT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 662834
chr17:662834 AAAGGAAG
others(5): Show 
AAAGGAAGGAAGG
 A
A
 2 a0001c0001t0084g0046
a0001c0002t0078g0041
a0001c0001t0084g0046
a0001c0002t0078g0041
 2 HG03516.hp1
HG03516.hp2
HG03516.hp1
HG03516.hp2
 intron_variant MODIFIER c.286-951_286-940del
others(12): Show 
c.286-951_286-940delCCTTCCTTCCTT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 662834
chr17:662834 AAAGGAAG
others(9): Show 
AAAGGAAGGAAGGAAGG
 A
A
 1 a0001c0001t0108g0148
a0001c0001t0108g0148
 1 HG01192.hp1
HG01192.hp1
 intron_variant MODIFIER c.286-955_286-940del
others(16): Show 
c.286-955_286-940delCCTTCCTTCCTTCCTT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 662834
chr17:662837 G
G
 A
A
 8 a0001c0002t0003g0072
a0001c0002t0014g0077
a0001c0002t0024g0073
others(5): Show 
a0001c0002t0003g0072
a0001c0002t0014g0077
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0076g0050
a0001c0006t0053g0102
a0001c0007t0012g0111
a0001c0016t0052g0099
 8 HG00099.hp2
HG01081.hp1
HG01168.hp2
others(5): Show 
HG00099.hp2
HG01081.hp1
HG01168.hp2
HG01361.hp1
HG01496.hp1
HG01978.hp2
NA18967.hp1
NA18973.hp1
 intron_variant MODIFIER c.286-942C>T
c.286-942C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 662837
chr17:662838 G
G
 A
A
 14 a0001c0002t0003g0072
a0001c0002t0007g0081
a0001c0002t0014g0074
others(11): Show 
a0001c0002t0003g0072
a0001c0002t0007g0081
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0006t0053g0102
a0001c0006t0074g0097
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0111
a0001c0016t0052g0099
 14 HG00099.hp2
HG01081.hp1
HG01099.hp2
others(11): Show 
HG00099.hp2
HG01081.hp1
HG01099.hp2
HG01168.hp2
HG01255.hp1
HG01361.hp1
HG01496.hp1
HG01515.hp1
HG01517.hp2
HG01978.hp2
NA18967.hp1
NA18973.hp1
NA19065.hp1
NA19070.hp1
 intron_variant MODIFIER c.286-943C>T
c.286-943C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 662838
chr17:662841 G
G
 A
A
 5 a0001c0002t0014g0074
a0001c0002t0075g0051
a0001c0006t0074g0097
others(2): Show 
a0001c0002t0014g0074
a0001c0002t0075g0051
a0001c0006t0074g0097
a0001c0007t0011g0105
a0001c0007t0011g0106
 5 HG01099.hp2
HG01255.hp1
HG01515.hp1
others(2): Show 
HG01099.hp2
HG01255.hp1
HG01515.hp1
HG01517.hp2
NA19070.hp1
 intron_variant MODIFIER c.286-946C>T
c.286-946C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 662841
chr17:662841 GGAAGGAA
others(25): Show 
GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAC
 G
G
 5 a0001c0001t0120g0211
a0001c0002t0001g0045
a0001c0002t0001g0090
others(2): Show 
a0001c0001t0120g0211
a0001c0002t0001g0045
a0001c0002t0001g0090
a0001c0002t0025g0075
a0001c0002t0067g0076
 5 HG01070.hp1
HG01168.hp1
HG01978.hp1
others(2): Show 
HG01070.hp1
HG01168.hp1
HG01978.hp1
HG02738.hp1
HG04184.hp2
 intron_variant MODIFIER c.286-978_286-947del
others(32): Show 
c.286-978_286-947delGTTCCTTCCTTCCTTCCTTCCTTCCTTCCT
TC
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 662841
chr17:662842 G
G
 A
A
 59 a0001c0001t0117g0230
a0001c0002t0001g0056
a0001c0002t0001g0066
others(56): Show 
a0001c0001t0117g0230
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0066g0070
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0001c0016t0052g0099
a0002c0003t0073g0068
 59 HG00099.hp2
HG00140.hp2
HG00280.hp1
others(56): Show 
HG00099.hp2
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00621.hp2
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01106.hp1
HG01167.hp2
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01361.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp2
HG01928.hp2
HG01978.hp2
HG01981.hp2
HG02135.hp1
HG02293.hp2
HG02300.hp2
HG02886.hp1
HG03491.hp1
HG03492.hp1
HG03688.hp1
HG04204.hp2
NA18906.hp2
NA18940.hp1
NA18944.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18959.hp2
NA18960.hp1
NA18962.hp2
NA18967.hp1
NA18973.hp1
NA18977.hp2
NA18979.hp1
NA19007.hp1
NA19009.hp1
NA19065.hp1
NA19070.hp1
NA19079.hp1
NA19084.hp1
NA19090.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.286-947C>T
c.286-947C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 662842
chr17:662846 G
G
 A
A
 58 a0001c0001t0117g0230
a0001c0002t0001g0056
a0001c0002t0001g0066
others(55): Show 
a0001c0001t0117g0230
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0066g0070
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0001c0016t0052g0099
a0002c0003t0073g0068
 58 HG00099.hp2
HG00140.hp2
HG00280.hp1
others(55): Show 
HG00099.hp2
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00621.hp2
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01106.hp1
HG01167.hp2
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01361.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp2
HG01928.hp2
HG01978.hp2
HG01981.hp2
HG02135.hp1
HG02293.hp2
HG02300.hp2
HG02886.hp1
HG03491.hp1
HG03492.hp1
HG03688.hp1
HG04204.hp2
NA18906.hp2
NA18940.hp1
NA18944.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18959.hp2
NA18960.hp1
NA18962.hp2
NA18967.hp1
NA18973.hp1
NA18977.hp2
NA18979.hp1
NA19007.hp1
NA19009.hp1
NA19070.hp1
NA19079.hp1
NA19084.hp1
NA19090.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.286-951C>T
c.286-951C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 662846
chr17:662849 GGA
GGA
 G
G
 52 a0001c0001t0117g0230
a0001c0002t0001g0056
a0001c0002t0001g0066
others(49): Show 
a0001c0001t0117g0230
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0077
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0066g0070
a0001c0002t0072g0071
a0001c0002t0076g0050
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0001c0016t0052g0099
a0002c0003t0073g0068
 52 HG00140.hp2
HG00280.hp1
HG00280.hp2
others(49): Show 
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00621.hp2
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01167.hp2
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01256.hp1
HG01258.hp1
HG01361.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01928.hp2
HG01978.hp2
HG01981.hp2
HG02135.hp1
HG02293.hp2
HG02300.hp2
HG02886.hp1
HG03491.hp1
HG03492.hp1
HG03688.hp1
HG04204.hp2
NA18906.hp2
NA18940.hp1
NA18944.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18959.hp2
NA18960.hp1
NA18962.hp2
NA18967.hp1
NA18973.hp1
NA18977.hp2
NA18979.hp1
NA19007.hp1
NA19009.hp1
NA19079.hp1
NA19084.hp1
NA19090.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.286-956_286-955del
others(2): Show 
c.286-956_286-955delTC
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 662849
chr17:662850 G
G
 A
A
 6 a0001c0002t0007g0081
a0001c0002t0014g0074
a0001c0002t0075g0051
others(3): Show 
a0001c0002t0007g0081
a0001c0002t0014g0074
a0001c0002t0075g0051
a0001c0006t0074g0097
a0001c0007t0011g0105
a0001c0007t0011g0106
 6 HG01099.hp2
HG01255.hp1
HG01515.hp1
others(3): Show 
HG01099.hp2
HG01255.hp1
HG01515.hp1
HG01517.hp2
NA19065.hp1
NA19070.hp1
 intron_variant MODIFIER c.286-955C>T
c.286-955C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 662850
chr17:662853 G
G
 A
A
 1 a0001c0006t0053g0102
a0001c0006t0053g0102
 1 HG00099.hp2
HG00099.hp2
 intron_variant MODIFIER c.286-958C>T
c.286-958C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 662853
chr17:662853 G
G
 C
C
 13 a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
others(10): Show 
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0036g0176
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0099g0192
a0002c0003t0104g0208
a0002c0003t0131g0193
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0146g0170
a0002c0003t0150g0191
 13 HG00323.hp2
HG00438.hp2
HG01070.hp2
others(10): Show 
HG00323.hp2
HG00438.hp2
HG01070.hp2
HG01071.hp1
HG01981.hp1
HG02083.hp1
HG02293.hp1
HG02300.hp1
HG02738.hp2
NA18612.hp1
NA18987.hp1
NA19010.hp1
NA19090.hp2
 intron_variant MODIFIER c.286-958C>G
c.286-958C>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 662853
chr17:662853 G
G
 GA
GA
 4 a0001c0002t0014g0074
a0001c0006t0074g0097
a0001c0007t0011g0105
others(1): Show 
a0001c0002t0014g0074
a0001c0006t0074g0097
a0001c0007t0011g0105
a0001c0007t0011g0106
 4 HG01099.hp2
HG01255.hp1
HG01515.hp1
others(1): Show 
HG01099.hp2
HG01255.hp1
HG01515.hp1
HG01517.hp2
 intron_variant MODIFIER c.286-959_286-958ins
others(1): Show 
c.286-959_286-958insT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 662853
chr17:662853 G
G
 GGAAGGAA
others(5): Show 
GGAAGGAAGGAAC
 24 a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
others(21): Show 
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0017g0179
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0018g0231
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0085g0184
a0002c0003t0089g0175
a0002c0003t0093g0173
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0145g0187
a0002c0003t0148g0174
a0004c0008t0036g0207
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
 24 HG00423.hp1
HG00621.hp1
HG01099.hp1
others(21): Show 
HG00423.hp1
HG00621.hp1
HG01099.hp1
HG01167.hp1
HG01928.hp1
HG02040.hp1
HG02056.hp1
HG02074.hp2
HG02129.hp1
HG02132.hp1
HG03491.hp2
HG03831.hp1
HG03942.hp1
HG04199.hp1
NA18946.hp1
NA18955.hp1
NA18957.hp2
NA18979.hp2
NA18983.hp1
NA18986.hp1
NA19000.hp1
NA19066.hp2
NA19074.hp1
NA19080.hp2
 intron_variant MODIFIER c.286-959_286-958ins
others(12): Show 
c.286-959_286-958insGTTCCTTCCTTC
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 662853
chr17:662854 G
G
 A
A
 52 a0001c0001t0117g0230
a0001c0002t0001g0056
a0001c0002t0001g0066
others(49): Show 
a0001c0001t0117g0230
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0077
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0066g0070
a0001c0002t0072g0071
a0001c0002t0076g0050
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0001c0016t0052g0099
a0002c0003t0073g0068
 52 HG00140.hp2
HG00280.hp1
HG00280.hp2
others(49): Show 
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00621.hp2
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01167.hp2
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01256.hp1
HG01258.hp1
HG01361.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01928.hp2
HG01978.hp2
HG01981.hp2
HG02135.hp1
HG02293.hp2
HG02300.hp2
HG02886.hp1
HG03491.hp1
HG03492.hp1
HG03688.hp1
HG04204.hp2
NA18906.hp2
NA18940.hp1
NA18944.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18959.hp2
NA18960.hp1
NA18962.hp2
NA18967.hp1
NA18973.hp1
NA18977.hp2
NA18979.hp1
NA19007.hp1
NA19009.hp1
NA19079.hp1
NA19084.hp1
NA19090.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.286-959C>T
c.286-959C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 662854
chr17:662857 G
G
 A
A
 4 a0001c0002t0014g0074
a0001c0006t0074g0097
a0001c0007t0011g0105
others(1): Show 
a0001c0002t0014g0074
a0001c0006t0074g0097
a0001c0007t0011g0105
a0001c0007t0011g0106
 4 HG01099.hp2
HG01255.hp1
HG01515.hp1
others(1): Show 
HG01099.hp2
HG01255.hp1
HG01515.hp1
HG01517.hp2
 intron_variant MODIFIER c.286-962C>T
c.286-962C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 662857
chr17:662857 GGA
GGA
 G
G
 52 a0001c0001t0117g0230
a0001c0002t0001g0056
a0001c0002t0001g0066
others(49): Show 
a0001c0001t0117g0230
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0077
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0066g0070
a0001c0002t0072g0071
a0001c0002t0076g0050
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0001c0016t0052g0099
a0002c0003t0073g0068
 52 HG00140.hp2
HG00280.hp1
HG00280.hp2
others(49): Show 
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00621.hp2
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01167.hp2
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01256.hp1
HG01258.hp1
HG01361.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01928.hp2
HG01978.hp2
HG01981.hp2
HG02135.hp1
HG02293.hp2
HG02300.hp2
HG02886.hp1
HG03491.hp1
HG03492.hp1
HG03688.hp1
HG04204.hp2
NA18906.hp2
NA18940.hp1
NA18944.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18959.hp2
NA18960.hp1
NA18962.hp2
NA18967.hp1
NA18973.hp1
NA18977.hp2
NA18979.hp1
NA19007.hp1
NA19009.hp1
NA19079.hp1
NA19084.hp1
NA19090.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.286-964_286-963del
others(2): Show 
c.286-964_286-963delTC
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 662857
chr17:662858 G
G
 A
A
 3 a0001c0002t0007g0081
a0001c0002t0075g0051
a0001c0006t0053g0102
a0001c0002t0007g0081
a0001c0002t0075g0051
a0001c0006t0053g0102
 3 HG00099.hp2
NA19065.hp1
NA19070.hp1
HG00099.hp2
NA19065.hp1
NA19070.hp1
 intron_variant MODIFIER c.286-963C>T
c.286-963C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 662858
chr17:662858 GA
GA
 G
G
 4 a0001c0002t0014g0074
a0001c0006t0074g0097
a0001c0007t0011g0105
others(1): Show 
a0001c0002t0014g0074
a0001c0006t0074g0097
a0001c0007t0011g0105
a0001c0007t0011g0106
 4 HG01099.hp2
HG01255.hp1
HG01515.hp1
others(1): Show 
HG01099.hp2
HG01255.hp1
HG01515.hp1
HG01517.hp2
 intron_variant MODIFIER c.286-964delT
c.286-964delT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 662858
chr17:662862 G
G
 A
A
 58 a0001c0001t0117g0230
a0001c0002t0001g0056
a0001c0002t0001g0066
others(55): Show 
a0001c0001t0117g0230
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0066g0070
a0001c0002t0072g0071
a0001c0002t0076g0050
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0001c0016t0052g0099
a0002c0003t0073g0068
 58 HG00099.hp2
HG00140.hp2
HG00280.hp1
others(55): Show 
HG00099.hp2
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00621.hp2
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01106.hp1
HG01167.hp2
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01361.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp2
HG01928.hp2
HG01978.hp2
HG01981.hp2
HG02135.hp1
HG02293.hp2
HG02300.hp2
HG02886.hp1
HG03491.hp1
HG03492.hp1
HG03688.hp1
HG04204.hp2
NA18906.hp2
NA18940.hp1
NA18944.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18959.hp2
NA18960.hp1
NA18962.hp2
NA18967.hp1
NA18973.hp1
NA18977.hp2
NA18979.hp1
NA19007.hp1
NA19009.hp1
NA19065.hp1
NA19079.hp1
NA19084.hp1
NA19090.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.286-967C>T
c.286-967C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 662862
chr17:662865 G
G
 C
C
 2 a0001c0001t0113g0122
a0001c0015t0126g0149
a0001c0001t0113g0122
a0001c0015t0126g0149
 2 HG00741.hp2
HG02723.hp1
HG00741.hp2
HG02723.hp1
 intron_variant MODIFIER c.286-970C>G
c.286-970C>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 662865
chr17:662866 G
G
 A
A
 57 a0001c0001t0117g0230
a0001c0002t0001g0056
a0001c0002t0001g0066
others(54): Show 
a0001c0001t0117g0230
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0066g0070
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0001c0016t0052g0099
a0002c0003t0073g0068
 57 HG00140.hp2
HG00280.hp1
HG00280.hp2
others(54): Show 
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00621.hp2
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01106.hp1
HG01167.hp2
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01361.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp2
HG01928.hp2
HG01978.hp2
HG01981.hp2
HG02135.hp1
HG02293.hp2
HG02300.hp2
HG02886.hp1
HG03491.hp1
HG03492.hp1
HG03688.hp1
HG04204.hp2
NA18906.hp2
NA18940.hp1
NA18944.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18959.hp2
NA18960.hp1
NA18962.hp2
NA18967.hp1
NA18973.hp1
NA18977.hp2
NA18979.hp1
NA19007.hp1
NA19009.hp1
NA19070.hp1
NA19079.hp1
NA19084.hp1
NA19090.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.286-971C>T
c.286-971C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 662866
chr17:662869 GGAAC
GGAAC
 G
G
 3 a0001c0001t0113g0122
a0001c0001t0118g0195
a0001c0015t0126g0149
a0001c0001t0113g0122
a0001c0001t0118g0195
a0001c0015t0126g0149
 3 HG00741.hp2
HG01346.hp2
HG02723.hp1
HG00741.hp2
HG01346.hp2
HG02723.hp1
 intron_variant MODIFIER c.286-978_286-975del
others(4): Show 
c.286-978_286-975delGTTC
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 662869
chr17:662870 G
G
 A
A
 1 a0001c0002t0075g0051
a0001c0002t0075g0051
 1 NA19070.hp1
NA19070.hp1
 intron_variant MODIFIER c.286-975C>T
c.286-975C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 662870
chr17:662873 C
C
 G
G
 61 a0001c0001t0117g0230
a0001c0002t0001g0056
a0001c0002t0001g0066
others(58): Show 
a0001c0001t0117g0230
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0066g0070
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0001c0016t0052g0099
a0002c0003t0073g0068
a0003c0004t0025g0038
a0004c0008t0035g0203
 61 HG00099.hp2
HG00140.hp2
HG00280.hp1
others(58): Show 
HG00099.hp2
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00621.hp2
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01106.hp1
HG01167.hp2
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01361.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp2
HG01928.hp2
HG01978.hp2
HG01981.hp2
HG02135.hp1
HG02293.hp2
HG02300.hp2
HG02886.hp1
HG03491.hp1
HG03492.hp1
HG03688.hp1
HG04184.hp1
HG04204.hp2
NA18906.hp2
NA18940.hp1
NA18944.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18959.hp2
NA18960.hp1
NA18962.hp2
NA18967.hp1
NA18973.hp1
NA18977.hp2
NA18979.hp1
NA19007.hp1
NA19009.hp1
NA19065.hp1
NA19068.hp1
NA19070.hp1
NA19079.hp1
NA19084.hp1
NA19090.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.286-978G>C
c.286-978G>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 662873
chr17:662885 G
G
 C
C
 1 a0001c0001t0118g0195
a0001c0001t0118g0195
 1 HG01346.hp2
HG01346.hp2
 intron_variant MODIFIER c.286-990C>G
c.286-990C>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 662885
chr17:662885 G
G
 T
T
 2 a0004c0008t0103g0227
a0004c0008t0133g0232
a0004c0008t0103g0227
a0004c0008t0133g0232
 2 NA18973.hp2
NA19011.hp1
NA18973.hp2
NA19011.hp1
 intron_variant MODIFIER c.286-990C>A
c.286-990C>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 662885
chr17:662891 A
A
 C
C
 2 a0001c0001t0113g0122
a0001c0015t0126g0149
a0001c0001t0113g0122
a0001c0015t0126g0149
 2 HG00741.hp2
HG02723.hp1
HG00741.hp2
HG02723.hp1
 intron_variant MODIFIER c.286-996T>G
c.286-996T>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 662891
chr17:662891 AAGGC
AAGGC
 A
A
 24 a0001c0001t0084g0046
a0001c0001t0108g0148
a0001c0002t0001g0094
others(21): Show 
a0001c0001t0084g0046
a0001c0001t0108g0148
a0001c0002t0001g0094
a0001c0002t0017g0225
a0001c0002t0035g0219
a0001c0002t0038g0224
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0002t0078g0041
a0001c0002t0086g0221
a0001c0002t0100g0223
a0001c0002t0109g0222
a0001c0002t0125g0116
a0001c0002t0143g0226
a0001c0002t0149g0202
a0001c0005t0080g0092
a0001c0011t0051g0091
a0002c0003t0089g0175
a0003c0004t0047g0017
a0003c0004t0056g0020
a0004c0008t0103g0227
a0004c0008t0124g0229
a0004c0008t0133g0232
a0004c0008t0142g0228
 24 HG00099.hp1
HG00140.hp1
HG00438.hp1
others(21): Show 
HG00099.hp1
HG00140.hp1
HG00438.hp1
HG01074.hp2
HG01192.hp1
HG01346.hp1
HG01516.hp1
HG02074.hp2
HG02145.hp1
HG03516.hp1
HG03516.hp2
HG03942.hp2
NA18747.hp2
NA18944.hp2
NA18955.hp2
NA18973.hp2
NA18984.hp2
NA18990.hp2
NA18994.hp1
NA19007.hp2
NA19011.hp1
NA19064.hp2
NA19066.hp1
NA19080.hp1
 intron_variant MODIFIER c.286-1000_286-997de
others(5): Show 
c.286-1000_286-997delGCCT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 662891
chr17:662891 AAGGCAGG
others(5): Show 
AAGGCAGGCAGGC
 A
A
 1 a0001c0002t0007g0081
a0001c0002t0007g0081
 1 NA19065.hp1
NA19065.hp1
 intron_variant MODIFIER c.286-1008_286-997de
others(13): Show 
c.286-1008_286-997delGCCTGCCTGCCT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 662891
chr17:662895 C
C
 A
A
 55 a0001c0001t0118g0195
a0001c0002t0007g0058
a0001c0002t0007g0062
others(52): Show 
a0001c0001t0118g0195
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0010g0057
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0058g0052
a0001c0002t0075g0051
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0017g0179
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0018g0231
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0085g0184
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0099g0192
a0002c0003t0104g0208
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0145g0187
a0002c0003t0146g0170
a0002c0003t0148g0174
a0002c0003t0150g0191
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0025g0038
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
a0004c0008t0035g0203
a0004c0008t0036g0207
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
 55 HG00323.hp2
HG00423.hp1
HG00438.hp2
others(52): Show 
HG00323.hp2
HG00423.hp1
HG00438.hp2
HG00621.hp1
HG01070.hp2
HG01071.hp1
HG01099.hp1
HG01167.hp1
HG01257.hp2
HG01346.hp2
HG01516.hp2
HG01517.hp1
HG01928.hp1
HG01981.hp1
HG02040.hp1
HG02056.hp1
HG02083.hp1
HG02109.hp1
HG02129.hp1
HG02132.hp1
HG02293.hp1
HG02300.hp1
HG02738.hp2
HG03491.hp2
HG03831.hp1
HG03942.hp1
HG04184.hp1
HG04199.hp1
NA18612.hp1
NA18906.hp1
NA18944.hp1
NA18946.hp1
NA18955.hp1
NA18957.hp2
NA18959.hp2
NA18962.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA19000.hp1
NA19007.hp1
NA19009.hp1
NA19010.hp1
NA19066.hp2
NA19068.hp1
NA19070.hp1
NA19074.hp1
NA19080.hp2
NA19084.hp2
NA19090.hp1
NA19090.hp2
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.286-1000G>T
c.286-1000G>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 662895
chr17:662899 C
C
 A
A
 1 a0001c0001t0118g0195
a0001c0001t0118g0195
 1 HG01346.hp2
HG01346.hp2
 intron_variant MODIFIER c.286-1004G>T
c.286-1004G>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 662899
chr17:662903 C
C
 A
A
 1 a0001c0001t0118g0195
a0001c0001t0118g0195
 1 HG01346.hp2
HG01346.hp2
 intron_variant MODIFIER c.286-1008G>T
c.286-1008G>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 662903
chr17:663037 C
C
 T
T
 2 a0003c0004t0047g0017
a0003c0004t0056g0020
a0003c0004t0047g0017
a0003c0004t0056g0020
 2 NA18994.hp1
NA19080.hp1
NA18994.hp1
NA19080.hp1
 intron_variant MODIFIER c.286-1142G>A
c.286-1142G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 663037
chr17:663058 C
C
 T
T
 5 a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
others(2): Show 
a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0005t0080g0092
a0001c0011t0051g0091
 5 HG01074.hp2
NA18747.hp2
NA18955.hp2
others(2): Show 
HG01074.hp2
NA18747.hp2
NA18955.hp2
NA18984.hp2
NA19064.hp2
 intron_variant MODIFIER c.286-1163G>A
c.286-1163G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 663058
chr17:663071 C
C
 T
T
 8 a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
others(5): Show 
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
 8 HG02135.hp2
HG02602.hp1
NA18747.hp1
others(5): Show 
HG02135.hp2
HG02602.hp1
NA18747.hp1
NA18960.hp2
NA18994.hp2
NA19010.hp2
NA19087.hp1
NA19091.hp1
 intron_variant MODIFIER c.286-1176G>A
c.286-1176G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 663071
chr17:663158 A
A
 G
G
 12 a0001c0001t0017g0158
a0001c0001t0032g0204
a0001c0001t0033g0205
others(9): Show 
a0001c0001t0017g0158
a0001c0001t0032g0204
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0034g0162
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0122g0160
a0001c0001t0127g0159
a0001c0001t0138g0161
a0001c0001t0141g0165
a0007c0013t0132g0163
 12 HG00741.hp1
HG01106.hp2
HG01109.hp1
others(9): Show 
HG00741.hp1
HG01106.hp2
HG01109.hp1
HG01257.hp1
HG01258.hp2
HG01891.hp1
HG02886.hp2
HG02895.hp2
HG02922.hp1
HG03225.hp1
HG04204.hp1
NA20129.hp1
 intron_variant MODIFIER c.286-1263T>C
c.286-1263T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 663158
chr17:663188 C
C
 T
T
 63 a0001c0001t0117g0230
a0001c0002t0001g0045
a0001c0002t0001g0056
others(60): Show 
a0001c0001t0117g0230
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0001c0016t0052g0099
a0002c0003t0073g0068
 63 HG00099.hp2
HG00140.hp2
HG00280.hp1
others(60): Show 
HG00099.hp2
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00621.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01106.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01361.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp2
HG01928.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp2
HG02135.hp1
HG02293.hp2
HG02300.hp2
HG02738.hp1
HG02886.hp1
HG03491.hp1
HG03492.hp1
HG03688.hp1
HG04204.hp2
NA18906.hp2
NA18940.hp1
NA18944.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18959.hp2
NA18960.hp1
NA18962.hp2
NA18967.hp1
NA18973.hp1
NA18977.hp2
NA18979.hp1
NA19007.hp1
NA19009.hp1
NA19065.hp1
NA19070.hp1
NA19079.hp1
NA19084.hp1
NA19090.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.286-1293G>A
c.286-1293G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 663188
chr17:663273 T
T
 G
G
 1 a0002c0003t0145g0187
a0002c0003t0145g0187
 1 HG04199.hp1
HG04199.hp1
 intron_variant MODIFIER c.286-1378A>C
c.286-1378A>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 663273
chr17:663347 G
G
 A
A
 1 a0001c0001t0084g0046
a0001c0001t0084g0046
 1 HG03516.hp1
HG03516.hp1
 intron_variant MODIFIER c.286-1452C>T
c.286-1452C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 663347
chr17:663492 C
C
 A
A
 1 a0001c0001t0118g0195
a0001c0001t0118g0195
 1 HG01346.hp2
HG01346.hp2
 intron_variant MODIFIER c.286-1597G>T
c.286-1597G>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 663492
chr17:663606 A
A
 G
G
 2 a0003c0004t0004g0021
a0003c0004t0004g0026
a0003c0004t0004g0021
a0003c0004t0004g0026
 2 NA18990.hp1
NA19011.hp2
NA18990.hp1
NA19011.hp2
 intron_variant MODIFIER c.286-1711T>C
c.286-1711T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 663606
chr17:663757 A
A
 G
G
 1 a0002c0010t0038g0156
a0002c0010t0038g0156
 1 NA21309.hp1
NA21309.hp1
 intron_variant MODIFIER c.286-1862T>C
c.286-1862T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 663757
chr17:663813 CCAATGGT
others(3): Show 
CCAATGGTAAA
 C
C
 30 a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
others(27): Show 
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
 30 HG01257.hp2
HG01516.hp2
HG01517.hp1
others(27): Show 
HG01257.hp2
HG01516.hp2
HG01517.hp1
HG02074.hp1
HG02109.hp1
HG03831.hp2
NA18612.hp2
NA18906.hp1
NA18945.hp1
NA18950.hp2
NA18957.hp1
NA18959.hp1
NA18961.hp2
NA18962.hp1
NA18977.hp1
NA18978.hp1
NA18984.hp1
NA18986.hp2
NA18990.hp1
NA18994.hp1
NA19011.hp2
NA19060.hp1
NA19064.hp1
NA19068.hp1
NA19080.hp1
NA19081.hp1
NA19087.hp2
NA19091.hp2
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.286-1928_286-1919d
others(12): Show 
c.286-1928_286-1919delTTTACCATTG
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 663813
chr17:663825 A
A
 T
T
 30 a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
others(27): Show 
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
 30 HG01257.hp2
HG01516.hp2
HG01517.hp1
others(27): Show 
HG01257.hp2
HG01516.hp2
HG01517.hp1
HG02074.hp1
HG02109.hp1
HG03831.hp2
NA18612.hp2
NA18906.hp1
NA18945.hp1
NA18950.hp2
NA18957.hp1
NA18959.hp1
NA18961.hp2
NA18962.hp1
NA18977.hp1
NA18978.hp1
NA18984.hp1
NA18986.hp2
NA18990.hp1
NA18994.hp1
NA19011.hp2
NA19060.hp1
NA19064.hp1
NA19068.hp1
NA19080.hp1
NA19081.hp1
NA19087.hp2
NA19091.hp2
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.286-1930T>A
c.286-1930T>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 663825
chr17:663931 T
T
 C
C
 63 a0001c0001t0117g0230
a0001c0002t0001g0045
a0001c0002t0001g0056
others(60): Show 
a0001c0001t0117g0230
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0001c0016t0052g0099
a0002c0003t0073g0068
 63 HG00099.hp2
HG00140.hp2
HG00280.hp1
others(60): Show 
HG00099.hp2
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00621.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01106.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01361.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp2
HG01928.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp2
HG02135.hp1
HG02293.hp2
HG02300.hp2
HG02738.hp1
HG02886.hp1
HG03491.hp1
HG03492.hp1
HG03688.hp1
HG04204.hp2
NA18906.hp2
NA18940.hp1
NA18944.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18959.hp2
NA18960.hp1
NA18962.hp2
NA18967.hp1
NA18973.hp1
NA18977.hp2
NA18979.hp1
NA19007.hp1
NA19009.hp1
NA19065.hp1
NA19070.hp1
NA19079.hp1
NA19084.hp1
NA19090.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.286-2036A>G
c.286-2036A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 663931
chr17:664110 A
A
 G
G
 230 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(227): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0017g0158
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0032g0114
a0001c0001t0032g0204
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0034g0126
a0001c0001t0034g0162
a0001c0001t0069g0012
a0001c0001t0084g0046
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0097g0199
a0001c0001t0098g0147
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0105g0201
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0108g0148
a0001c0001t0110g0127
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0118g0195
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0122g0160
a0001c0001t0123g0123
a0001c0001t0127g0159
a0001c0001t0128g0132
a0001c0001t0134g0154
a0001c0001t0138g0161
a0001c0001t0141g0165
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0001g0094
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0017g0225
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0035g0219
a0001c0002t0038g0224
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0050g0049
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0065g0093
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0077g0095
a0001c0002t0078g0041
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0002t0086g0221
a0001c0002t0100g0223
a0001c0002t0109g0222
a0001c0002t0125g0116
a0001c0002t0143g0226
a0001c0002t0149g0202
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0001c0011t0051g0091
a0001c0014t0135g0166
a0001c0015t0126g0149
a0001c0016t0052g0099
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0017g0179
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0018g0231
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0073g0068
a0002c0003t0085g0184
a0002c0003t0089g0175
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0099g0192
a0002c0003t0104g0208
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0145g0187
a0002c0003t0146g0170
a0002c0003t0148g0174
a0002c0003t0150g0191
a0002c0010t0038g0156
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
a0004c0008t0035g0203
a0004c0008t0036g0207
a0004c0008t0103g0227
a0004c0008t0124g0229
a0004c0008t0133g0232
a0004c0008t0142g0228
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
a0006c0012t0129g0140
a0007c0013t0132g0163
 230 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(227): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00621.hp1
HG00621.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02056.hp1
HG02056.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18955.hp1
NA18955.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18967.hp1
NA18967.hp2
NA18973.hp1
NA18973.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18990.hp1
NA18990.hp2
NA18994.hp1
NA18994.hp2
NA19000.hp1
NA19000.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19087.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.286-2215T>C
c.286-2215T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 664110
chr17:664337 C
C
 G
G
 2 a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0020g0005
a0001c0005t0020g0010
 2 NA19087.hp1
NA19091.hp1
NA19087.hp1
NA19091.hp1
 intron_variant MODIFIER c.286-2442G>C
c.286-2442G>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 664337
chr17:664364 C
C
 T
T
 1 a0001c0002t0078g0041
a0001c0002t0078g0041
 1 HG03516.hp2
HG03516.hp2
 intron_variant MODIFIER c.286-2469G>A
c.286-2469G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 664364
chr17:664462 A
A
 C
C
 1 a0001c0006t0040g0002
a0001c0006t0040g0002
 1 HG01981.hp2
HG01981.hp2
 intron_variant MODIFIER c.286-2567T>G
c.286-2567T>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 664462
chr17:664655 G
G
 A
A
 53 a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
others(50): Show 
a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0002t0078g0041
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0011t0051g0091
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0017g0179
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0018g0231
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0085g0184
a0002c0003t0089g0175
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0099g0192
a0002c0003t0104g0208
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0145g0187
a0002c0003t0146g0170
a0002c0003t0148g0174
a0002c0003t0150g0191
a0004c0008t0036g0207
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
 53 HG00323.hp2
HG00423.hp1
HG00438.hp2
others(50): Show 
HG00323.hp2
HG00423.hp1
HG00438.hp2
HG00621.hp1
HG01070.hp2
HG01071.hp1
HG01074.hp2
HG01099.hp1
HG01167.hp1
HG01928.hp1
HG01981.hp1
HG02040.hp1
HG02056.hp1
HG02074.hp2
HG02083.hp1
HG02129.hp1
HG02132.hp1
HG02135.hp2
HG02293.hp1
HG02300.hp1
HG02602.hp1
HG02738.hp2
HG03491.hp2
HG03516.hp2
HG03831.hp1
HG03942.hp1
HG04199.hp1
NA18612.hp1
NA18747.hp1
NA18747.hp2
NA18946.hp1
NA18955.hp1
NA18955.hp2
NA18957.hp2
NA18960.hp2
NA18979.hp2
NA18983.hp1
NA18984.hp2
NA18986.hp1
NA18987.hp1
NA18994.hp2
NA19000.hp1
NA19000.hp2
NA19010.hp1
NA19010.hp2
NA19064.hp2
NA19066.hp2
NA19074.hp1
NA19080.hp2
NA19084.hp2
NA19087.hp1
NA19090.hp2
NA19091.hp1
 intron_variant MODIFIER c.286-2760C>T
c.286-2760C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 664655
chr17:664715 G
G
 C
C
 54 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(51): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0017g0158
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0032g0114
a0001c0001t0032g0204
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0034g0126
a0001c0001t0034g0162
a0001c0001t0069g0012
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0098g0147
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0108g0148
a0001c0001t0110g0127
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0122g0160
a0001c0001t0123g0123
a0001c0001t0127g0159
a0001c0001t0128g0132
a0001c0001t0138g0161
a0001c0001t0141g0165
a0001c0014t0135g0166
a0001c0015t0126g0149
a0002c0010t0038g0156
a0006c0012t0129g0140
a0007c0013t0132g0163
 54 HG00423.hp2
HG00741.hp1
HG00741.hp2
others(51): Show 
HG00423.hp2
HG00741.hp1
HG00741.hp2
HG01106.hp2
HG01109.hp1
HG01192.hp1
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01361.hp2
HG01884.hp2
HG01891.hp1
HG02040.hp2
HG02056.hp2
HG02083.hp2
HG02109.hp2
HG02129.hp2
HG02132.hp2
HG02280.hp2
HG02572.hp1
HG02602.hp2
HG02723.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG03225.hp1
HG03225.hp2
HG03492.hp2
HG03688.hp2
HG04184.hp2
HG04199.hp2
HG04204.hp1
NA18940.hp2
NA18945.hp2
NA18950.hp1
NA18961.hp1
NA18967.hp2
NA18978.hp2
NA18983.hp2
NA18987.hp2
NA19009.hp2
NA19060.hp2
NA19065.hp2
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19079.hp2
NA19081.hp2
NA20129.hp1
NA20300.hp2
NA21309.hp1
 intron_variant MODIFIER c.286-2820C>G
c.286-2820C>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 664715
chr17:664785 G
G
 A
A
 30 a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
others(27): Show 
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
 30 HG01257.hp2
HG01516.hp2
HG01517.hp1
others(27): Show 
HG01257.hp2
HG01516.hp2
HG01517.hp1
HG02074.hp1
HG02109.hp1
HG03831.hp2
NA18612.hp2
NA18906.hp1
NA18945.hp1
NA18950.hp2
NA18957.hp1
NA18959.hp1
NA18961.hp2
NA18962.hp1
NA18977.hp1
NA18978.hp1
NA18984.hp1
NA18986.hp2
NA18990.hp1
NA18994.hp1
NA19011.hp2
NA19060.hp1
NA19064.hp1
NA19068.hp1
NA19080.hp1
NA19081.hp1
NA19087.hp2
NA19091.hp2
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.286-2890C>T
c.286-2890C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 664785
chr17:664806 T
T
 C
C
 31 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(28): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0034g0126
a0001c0001t0069g0012
a0001c0001t0094g0129
a0001c0001t0107g0212
a0001c0001t0110g0127
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0123g0123
a0001c0001t0128g0132
a0006c0012t0129g0140
 31 HG00423.hp2
HG00741.hp2
HG01255.hp2
others(28): Show 
HG00423.hp2
HG00741.hp2
HG01255.hp2
HG01256.hp2
HG01361.hp2
HG02040.hp2
HG02056.hp2
HG02083.hp2
HG02129.hp2
HG02132.hp2
HG02602.hp2
HG03492.hp2
HG03688.hp2
HG04184.hp2
HG04199.hp2
NA18940.hp2
NA18945.hp2
NA18950.hp1
NA18961.hp1
NA18967.hp2
NA18978.hp2
NA18983.hp2
NA18987.hp2
NA19009.hp2
NA19060.hp2
NA19065.hp2
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19079.hp2
NA19081.hp2
 intron_variant MODIFIER c.286-2911A>G
c.286-2911A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 664806
chr17:664877 G
G
 A
A
 13 a0001c0002t0017g0225
a0001c0002t0035g0219
a0001c0002t0038g0224
others(10): Show 
a0001c0002t0017g0225
a0001c0002t0035g0219
a0001c0002t0038g0224
a0001c0002t0100g0223
a0001c0002t0109g0222
a0001c0002t0125g0116
a0001c0002t0143g0226
a0001c0002t0149g0202
a0004c0008t0035g0203
a0004c0008t0103g0227
a0004c0008t0124g0229
a0004c0008t0133g0232
a0004c0008t0142g0228
 13 HG00099.hp1
HG00140.hp1
HG00438.hp1
others(10): Show 
HG00099.hp1
HG00140.hp1
HG00438.hp1
HG01346.hp1
HG01516.hp1
HG03942.hp2
HG04184.hp1
NA18944.hp2
NA18973.hp2
NA18990.hp2
NA19007.hp2
NA19011.hp1
NA19066.hp1
 intron_variant MODIFIER c.286-2982C>T
c.286-2982C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 664877
chr17:664913 T
T
 A
A
 146 a0001c0001t0117g0230
a0001c0002t0001g0045
a0001c0002t0001g0056
others(143): Show 
a0001c0001t0117g0230
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0001g0094
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0065g0093
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0077g0095
a0001c0002t0078g0041
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0001c0011t0051g0091
a0001c0016t0052g0099
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0017g0179
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0018g0231
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0073g0068
a0002c0003t0085g0184
a0002c0003t0089g0175
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0099g0192
a0002c0003t0104g0208
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0145g0187
a0002c0003t0146g0170
a0002c0003t0148g0174
a0002c0003t0150g0191
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
a0004c0008t0036g0207
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
 146 HG00099.hp2
HG00140.hp2
HG00280.hp1
others(143): Show 
HG00099.hp2
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00438.hp2
HG00621.hp1
HG00621.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01255.hp1
HG01256.hp1
HG01257.hp2
HG01258.hp1
HG01361.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01928.hp1
HG01928.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02056.hp1
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02109.hp1
HG02129.hp1
HG02132.hp1
HG02135.hp1
HG02135.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02602.hp1
HG02738.hp1
HG02738.hp2
HG02886.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03516.hp2
HG03688.hp1
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG04199.hp1
HG04204.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18944.hp1
NA18945.hp1
NA18946.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp2
NA18955.hp1
NA18955.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18967.hp1
NA18973.hp1
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18990.hp1
NA18994.hp1
NA18994.hp2
NA19000.hp1
NA19000.hp2
NA19007.hp1
NA19009.hp1
NA19010.hp1
NA19010.hp2
NA19011.hp2
NA19060.hp1
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19066.hp2
NA19068.hp1
NA19070.hp1
NA19074.hp1
NA19079.hp1
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19087.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.286-3018A>T
c.286-3018A>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 664913
chr17:665013 G
G
 A
A
 13 a0001c0001t0017g0158
a0001c0001t0032g0204
a0001c0001t0033g0205
others(10): Show 
a0001c0001t0017g0158
a0001c0001t0032g0204
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0034g0162
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0122g0160
a0001c0001t0127g0159
a0001c0001t0138g0161
a0001c0001t0141g0165
a0002c0010t0038g0156
a0007c0013t0132g0163
 13 HG00741.hp1
HG01106.hp2
HG01109.hp1
others(10): Show 
HG00741.hp1
HG01106.hp2
HG01109.hp1
HG01257.hp1
HG01258.hp2
HG01891.hp1
HG02886.hp2
HG02895.hp2
HG02922.hp1
HG03225.hp1
HG04204.hp1
NA20129.hp1
NA21309.hp1
 intron_variant MODIFIER c.286-3118C>T
c.286-3118C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 665013
chr17:665090 G
G
 A
A
 3 a0001c0002t0003g0072
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0003g0072
a0001c0002t0024g0073
a0001c0002t0024g0088
 3 HG01081.hp1
HG01361.hp1
HG01496.hp1
HG01081.hp1
HG01361.hp1
HG01496.hp1
 intron_variant MODIFIER c.286-3195C>T
c.286-3195C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 665090
chr17:665141 A
A
 G
G
 53 a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
others(50): Show 
a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0002t0078g0041
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0011t0051g0091
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0017g0179
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0018g0231
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0085g0184
a0002c0003t0089g0175
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0099g0192
a0002c0003t0104g0208
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0145g0187
a0002c0003t0146g0170
a0002c0003t0148g0174
a0002c0003t0150g0191
a0004c0008t0036g0207
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
 53 HG00323.hp2
HG00423.hp1
HG00438.hp2
others(50): Show 
HG00323.hp2
HG00423.hp1
HG00438.hp2
HG00621.hp1
HG01070.hp2
HG01071.hp1
HG01074.hp2
HG01099.hp1
HG01167.hp1
HG01928.hp1
HG01981.hp1
HG02040.hp1
HG02056.hp1
HG02074.hp2
HG02083.hp1
HG02129.hp1
HG02132.hp1
HG02135.hp2
HG02293.hp1
HG02300.hp1
HG02602.hp1
HG02738.hp2
HG03491.hp2
HG03516.hp2
HG03831.hp1
HG03942.hp1
HG04199.hp1
NA18612.hp1
NA18747.hp1
NA18747.hp2
NA18946.hp1
NA18955.hp1
NA18955.hp2
NA18957.hp2
NA18960.hp2
NA18979.hp2
NA18983.hp1
NA18984.hp2
NA18986.hp1
NA18987.hp1
NA18994.hp2
NA19000.hp1
NA19000.hp2
NA19010.hp1
NA19010.hp2
NA19064.hp2
NA19066.hp2
NA19074.hp1
NA19080.hp2
NA19084.hp2
NA19087.hp1
NA19090.hp2
NA19091.hp1
 intron_variant MODIFIER c.286-3246T>C
c.286-3246T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 665141
chr17:665203 G
G
 A
A
 38 a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
others(35): Show 
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0017g0179
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0018g0231
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0085g0184
a0002c0003t0089g0175
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0099g0192
a0002c0003t0104g0208
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0145g0187
a0002c0003t0146g0170
a0002c0003t0148g0174
a0002c0003t0150g0191
a0004c0008t0036g0207
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
 38 HG00323.hp2
HG00423.hp1
HG00438.hp2
others(35): Show 
HG00323.hp2
HG00423.hp1
HG00438.hp2
HG00621.hp1
HG01070.hp2
HG01071.hp1
HG01099.hp1
HG01167.hp1
HG01928.hp1
HG01981.hp1
HG02040.hp1
HG02056.hp1
HG02074.hp2
HG02083.hp1
HG02129.hp1
HG02132.hp1
HG02293.hp1
HG02300.hp1
HG02738.hp2
HG03491.hp2
HG03831.hp1
HG03942.hp1
HG04199.hp1
NA18612.hp1
NA18946.hp1
NA18955.hp1
NA18957.hp2
NA18979.hp2
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA19000.hp1
NA19010.hp1
NA19066.hp2
NA19074.hp1
NA19080.hp2
NA19084.hp2
NA19090.hp2
 intron_variant MODIFIER c.286-3308C>T
c.286-3308C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 665203
chr17:665248 C
C
 T
T
 1 a0001c0001t0098g0147
a0001c0001t0098g0147
 1 HG02818.hp2
HG02818.hp2
 intron_variant MODIFIER c.286-3353G>A
c.286-3353G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 665248
chr17:665275 C
C
 T
T
 20 a0001c0001t0117g0230
a0001c0006t0001g0113
a0001c0006t0021g0100
others(17): Show 
a0001c0001t0117g0230
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0001c0016t0052g0099
 20 HG00280.hp2
HG01081.hp2
HG01099.hp2
others(17): Show 
HG00280.hp2
HG01081.hp2
HG01099.hp2
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp2
HG01928.hp2
HG01978.hp2
HG01981.hp2
HG02293.hp2
HG02300.hp2
HG03491.hp1
HG03492.hp1
HG03688.hp1
NA18948.hp1
 intron_variant MODIFIER c.286-3380G>A
c.286-3380G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 665275
chr17:665330 C
C
 T
T
 41 a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
others(38): Show 
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0058g0052
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0002c0003t0073g0068
 41 HG00140.hp2
HG00280.hp1
HG00323.hp1
others(38): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp1
HG00621.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01106.hp1
HG01167.hp2
HG01168.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01361.hp1
HG01496.hp1
HG01978.hp1
HG02135.hp1
HG02738.hp1
HG02886.hp1
HG04204.hp2
NA18940.hp1
NA18944.hp1
NA18946.hp2
NA18948.hp2
NA18959.hp2
NA18960.hp1
NA18962.hp2
NA18967.hp1
NA18973.hp1
NA18977.hp2
NA18979.hp1
NA19007.hp1
NA19009.hp1
NA19065.hp1
NA19070.hp1
NA19079.hp1
NA19084.hp1
NA19090.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.286-3435G>A
c.286-3435G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 665330
chr17:665432 A
A
 C
C
 8 a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
others(5): Show 
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0097g0199
a0001c0001t0105g0201
 8 HG01109.hp2
HG01884.hp1
HG02622.hp1
others(5): Show 
HG01109.hp2
HG01884.hp1
HG02622.hp1
HG02622.hp2
HG02723.hp2
HG02818.hp1
HG02922.hp2
HG03139.hp2
 intron_variant MODIFIER c.286-3537T>G
c.286-3537T>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 665432
chr17:665689 T
T
 C
C
 5 a0002c0003t0008g0180
a0002c0003t0008g0183
a0002c0003t0008g0217
others(2): Show 
a0002c0003t0008g0180
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0091g0209
a0002c0003t0150g0191
 5 HG01099.hp1
HG01981.hp1
HG02293.hp1
others(2): Show 
HG01099.hp1
HG01981.hp1
HG02293.hp1
HG02300.hp1
NA19010.hp1
 intron_variant MODIFIER c.286-3794A>G
c.286-3794A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 665689
chr17:665751 T
T
 A
A
 8 a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
others(5): Show 
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0097g0199
a0001c0001t0105g0201
 8 HG01109.hp2
HG01884.hp1
HG02622.hp1
others(5): Show 
HG01109.hp2
HG01884.hp1
HG02622.hp1
HG02622.hp2
HG02723.hp2
HG02818.hp1
HG02922.hp2
HG03139.hp2
 intron_variant MODIFIER c.286-3856A>T
c.286-3856A>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 665751
chr17:665897 G
G
 A
A
 2 a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0079
a0001c0002t0001g0080
 2 HG00280.hp1
HG00323.hp1
HG00280.hp1
HG00323.hp1
 intron_variant MODIFIER c.286-4002C>T
c.286-4002C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 665897
chr17:665944 C
C
 T
T
 4 a0003c0004t0003g0018
a0003c0004t0003g0043
a0003c0004t0064g0042
others(1): Show 
a0003c0004t0003g0018
a0003c0004t0003g0043
a0003c0004t0064g0042
a0003c0004t0071g0037
 4 HG01516.hp2
HG01517.hp1
NA18906.hp1
others(1): Show 
HG01516.hp2
HG01517.hp1
NA18906.hp1
NA20805.hp1
 intron_variant MODIFIER c.286-4049G>A
c.286-4049G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 665944
chr17:666144 A
A
 G
G
 9 a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
others(6): Show 
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
 9 HG02135.hp2
HG02602.hp1
NA18747.hp1
others(6): Show 
HG02135.hp2
HG02602.hp1
NA18747.hp1
NA18960.hp2
NA18994.hp2
NA19000.hp2
NA19010.hp2
NA19087.hp1
NA19091.hp1
 intron_variant MODIFIER c.286-4249T>C
c.286-4249T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 666144
chr17:666207 C
C
 T
T
 1 a0003c0004t0025g0038
a0003c0004t0025g0038
 1 NA19068.hp1
NA19068.hp1
 intron_variant MODIFIER c.286-4312G>A
c.286-4312G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 666207
chr17:666333 G
G
 A
A
 2 a0002c0003t0008g0182
a0002c0003t0104g0208
a0002c0003t0008g0182
a0002c0003t0104g0208
 2 HG02083.hp1
NA18987.hp1
HG02083.hp1
NA18987.hp1
 intron_variant MODIFIER c.286-4438C>T
c.286-4438C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 666333
chr17:666376 G
G
 A
A
 15 a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
others(12): Show 
a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0002t0078g0041
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0011t0051g0091
 15 HG01074.hp2
HG02135.hp2
HG02602.hp1
others(12): Show 
HG01074.hp2
HG02135.hp2
HG02602.hp1
HG03516.hp2
NA18747.hp1
NA18747.hp2
NA18955.hp2
NA18960.hp2
NA18984.hp2
NA18994.hp2
NA19000.hp2
NA19010.hp2
NA19064.hp2
NA19087.hp1
NA19091.hp1
 intron_variant MODIFIER c.286-4481C>T
c.286-4481C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 666376
chr17:666394 T
T
 C
C
 1 a0001c0011t0051g0091
a0001c0011t0051g0091
 1 HG01074.hp2
HG01074.hp2
 intron_variant MODIFIER c.286-4499A>G
c.286-4499A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 666394
chr17:666521 G
G
 A
A
 21 a0001c0001t0117g0230
a0001c0006t0001g0113
a0001c0006t0021g0100
others(18): Show 
a0001c0001t0117g0230
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0001c0016t0052g0099
 21 HG00099.hp2
HG00280.hp2
HG01081.hp2
others(18): Show 
HG00099.hp2
HG00280.hp2
HG01081.hp2
HG01099.hp2
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp2
HG01928.hp2
HG01978.hp2
HG01981.hp2
HG02293.hp2
HG02300.hp2
HG03491.hp1
HG03492.hp1
HG03688.hp1
NA18948.hp1
 intron_variant MODIFIER c.286-4626C>T
c.286-4626C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 666521
chr17:666581 G
G
 A
A
 68 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(65): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0017g0158
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0032g0114
a0001c0001t0032g0204
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0034g0126
a0001c0001t0034g0162
a0001c0001t0069g0012
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0097g0199
a0001c0001t0098g0147
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0105g0201
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0108g0148
a0001c0001t0110g0127
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0118g0195
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0122g0160
a0001c0001t0123g0123
a0001c0001t0127g0159
a0001c0001t0128g0132
a0001c0001t0134g0154
a0001c0001t0138g0161
a0001c0001t0141g0165
a0001c0014t0135g0166
a0001c0015t0126g0149
a0002c0010t0038g0156
a0006c0012t0129g0140
a0007c0013t0132g0163
 68 HG00423.hp2
HG00741.hp1
HG00741.hp2
others(65): Show 
HG00423.hp2
HG00741.hp1
HG00741.hp2
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01192.hp1
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01346.hp2
HG01361.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG02040.hp2
HG02056.hp2
HG02083.hp2
HG02109.hp2
HG02129.hp2
HG02132.hp2
HG02280.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02723.hp1
HG02723.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03492.hp2
HG03688.hp2
HG04184.hp2
HG04199.hp2
HG04204.hp1
NA18940.hp2
NA18945.hp2
NA18950.hp1
NA18961.hp1
NA18967.hp2
NA18978.hp2
NA18983.hp2
NA18987.hp2
NA19009.hp2
NA19060.hp2
NA19065.hp2
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19079.hp2
NA19081.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA21309.hp1
 intron_variant MODIFIER c.286-4686C>T
c.286-4686C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 666581
chr17:666784 T
T
 A
A
 39 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(36): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0032g0114
a0001c0001t0034g0126
a0001c0001t0069g0012
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0098g0147
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0108g0148
a0001c0001t0110g0127
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0123g0123
a0001c0001t0128g0132
a0006c0012t0129g0140
 39 HG00423.hp2
HG00741.hp2
HG01192.hp1
others(36): Show 
HG00423.hp2
HG00741.hp2
HG01192.hp1
HG01255.hp2
HG01256.hp2
HG01361.hp2
HG01884.hp2
HG02040.hp2
HG02056.hp2
HG02083.hp2
HG02109.hp2
HG02129.hp2
HG02132.hp2
HG02280.hp2
HG02602.hp2
HG02818.hp2
HG02895.hp1
HG03225.hp2
HG03492.hp2
HG03688.hp2
HG04184.hp2
HG04199.hp2
NA18940.hp2
NA18945.hp2
NA18950.hp1
NA18961.hp1
NA18967.hp2
NA18978.hp2
NA18983.hp2
NA18987.hp2
NA19009.hp2
NA19060.hp2
NA19065.hp2
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19079.hp2
NA19081.hp2
NA20300.hp2
 intron_variant MODIFIER c.286-4889A>T
c.286-4889A>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 666784
chr17:666827 G
G
 A
A
 2 a0001c0014t0135g0166
a0001c0015t0126g0149
a0001c0014t0135g0166
a0001c0015t0126g0149
 2 HG02572.hp1
HG02723.hp1
HG02572.hp1
HG02723.hp1
 intron_variant MODIFIER c.286-4932C>T
c.286-4932C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 666827
chr17:666880 T
T
 C
C
 53 a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
others(50): Show 
a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0002t0078g0041
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0011t0051g0091
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0017g0179
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0018g0231
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0085g0184
a0002c0003t0089g0175
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0099g0192
a0002c0003t0104g0208
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0145g0187
a0002c0003t0146g0170
a0002c0003t0148g0174
a0002c0003t0150g0191
a0004c0008t0036g0207
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
 53 HG00323.hp2
HG00423.hp1
HG00438.hp2
others(50): Show 
HG00323.hp2
HG00423.hp1
HG00438.hp2
HG00621.hp1
HG01070.hp2
HG01071.hp1
HG01074.hp2
HG01099.hp1
HG01167.hp1
HG01928.hp1
HG01981.hp1
HG02040.hp1
HG02056.hp1
HG02074.hp2
HG02083.hp1
HG02129.hp1
HG02132.hp1
HG02135.hp2
HG02293.hp1
HG02300.hp1
HG02602.hp1
HG02738.hp2
HG03491.hp2
HG03516.hp2
HG03831.hp1
HG03942.hp1
HG04199.hp1
NA18612.hp1
NA18747.hp1
NA18747.hp2
NA18946.hp1
NA18955.hp1
NA18955.hp2
NA18957.hp2
NA18960.hp2
NA18979.hp2
NA18983.hp1
NA18984.hp2
NA18986.hp1
NA18987.hp1
NA18994.hp2
NA19000.hp1
NA19000.hp2
NA19010.hp1
NA19010.hp2
NA19064.hp2
NA19066.hp2
NA19074.hp1
NA19080.hp2
NA19084.hp2
NA19087.hp1
NA19090.hp2
NA19091.hp1
 intron_variant MODIFIER c.286-4985A>G
c.286-4985A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 666880
chr17:667033 G
G
 A
A
 1 a0001c0001t0097g0199
a0001c0001t0097g0199
 1 HG02922.hp2
HG02922.hp2
 intron_variant MODIFIER c.286-5138C>T
c.286-5138C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 667033
chr17:667140 A
A
 C
C
 1 a0002c0003t0008g0182
a0002c0003t0008g0182
 1 HG02083.hp1
HG02083.hp1
 intron_variant MODIFIER c.286-5245T>G
c.286-5245T>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 667140
chr17:667148 T
T
 G
G
 30 a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
others(27): Show 
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
 30 HG01257.hp2
HG01516.hp2
HG01517.hp1
others(27): Show 
HG01257.hp2
HG01516.hp2
HG01517.hp1
HG02074.hp1
HG02109.hp1
HG03831.hp2
NA18612.hp2
NA18906.hp1
NA18945.hp1
NA18950.hp2
NA18957.hp1
NA18959.hp1
NA18961.hp2
NA18962.hp1
NA18977.hp1
NA18978.hp1
NA18984.hp1
NA18986.hp2
NA18990.hp1
NA18994.hp1
NA19011.hp2
NA19060.hp1
NA19064.hp1
NA19068.hp1
NA19080.hp1
NA19081.hp1
NA19087.hp2
NA19091.hp2
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.286-5253A>C
c.286-5253A>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 667148
chr17:667190 C
C
 T
T
 15 a0001c0001t0017g0158
a0001c0001t0032g0204
a0001c0001t0033g0205
others(12): Show 
a0001c0001t0017g0158
a0001c0001t0032g0204
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0034g0162
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0122g0160
a0001c0001t0127g0159
a0001c0001t0138g0161
a0001c0001t0141g0165
a0001c0014t0135g0166
a0001c0015t0126g0149
a0002c0010t0038g0156
a0007c0013t0132g0163
 15 HG00741.hp1
HG01106.hp2
HG01109.hp1
others(12): Show 
HG00741.hp1
HG01106.hp2
HG01109.hp1
HG01257.hp1
HG01258.hp2
HG01891.hp1
HG02572.hp1
HG02723.hp1
HG02886.hp2
HG02895.hp2
HG02922.hp1
HG03225.hp1
HG04204.hp1
NA20129.hp1
NA21309.hp1
 intron_variant MODIFIER c.286-5295G>A
c.286-5295G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 667190
chr17:667304 C
C
 CT
CT
 106 a0001c0001t0117g0230
a0001c0002t0001g0045
a0001c0002t0001g0056
others(103): Show 
a0001c0001t0117g0230
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0001g0094
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0065g0093
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0077g0095
a0001c0002t0078g0041
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0005t0080g0092
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0001c0011t0051g0091
a0001c0016t0052g0099
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0017g0179
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0018g0231
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0073g0068
a0002c0003t0085g0184
a0002c0003t0089g0175
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0099g0192
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0145g0187
a0002c0003t0146g0170
a0002c0003t0148g0174
a0002c0003t0150g0191
a0004c0008t0036g0207
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
 106 HG00099.hp2
HG00140.hp2
HG00280.hp1
others(103): Show 
HG00099.hp2
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00438.hp2
HG00621.hp1
HG00621.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01361.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp2
HG01928.hp1
HG01928.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02056.hp1
HG02074.hp2
HG02083.hp1
HG02129.hp1
HG02132.hp1
HG02135.hp1
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02738.hp1
HG02738.hp2
HG02886.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03516.hp2
HG03688.hp1
HG03831.hp1
HG03942.hp1
HG04199.hp1
HG04204.hp2
NA18612.hp1
NA18747.hp2
NA18906.hp2
NA18940.hp1
NA18944.hp1
NA18946.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18955.hp1
NA18955.hp2
NA18957.hp2
NA18959.hp2
NA18960.hp1
NA18962.hp2
NA18967.hp1
NA18973.hp1
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18984.hp2
NA18986.hp1
NA19000.hp1
NA19007.hp1
NA19009.hp1
NA19010.hp1
NA19064.hp2
NA19065.hp1
NA19066.hp2
NA19070.hp1
NA19074.hp1
NA19079.hp1
NA19080.hp2
NA19084.hp1
NA19084.hp2
NA19090.hp1
NA19090.hp2
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.286-5410dupA
c.286-5410dupA
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 667304
chr17:667304 C
C
 CTT
CTT
 9 a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
others(6): Show 
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
 9 HG02135.hp2
HG02602.hp1
NA18747.hp1
others(6): Show 
HG02135.hp2
HG02602.hp1
NA18747.hp1
NA18960.hp2
NA18994.hp2
NA19000.hp2
NA19010.hp2
NA19087.hp1
NA19091.hp1
 intron_variant MODIFIER c.286-5411_286-5410d
others(4): Show 
c.286-5411_286-5410dupAA
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 667304
chr17:667363 G
G
 A
A
 1 a0001c0001t0029g0151
a0001c0001t0029g0151
 1 HG02622.hp2
HG02622.hp2
 intron_variant MODIFIER c.286-5468C>T
c.286-5468C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 667363
chr17:667404 G
G
 A
A
 1 a0003c0004t0054g0032
a0003c0004t0054g0032
 1 NA19087.hp2
NA19087.hp2
 intron_variant MODIFIER c.286-5509C>T
c.286-5509C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 667404
chr17:667442 T
T
 TGGGGGGG
others(99): Show 
TGGGGGGGCAATGGGTTAATTACAGAAGAGGACTGTTTTAAACATAATGT
TCTGGGGGGGGCAATGGGTTAATTACAGAAGAGGACTGTTTTAAACATAA
TGTTCTG
 12 a0002c0003t0017g0179
a0002c0003t0018g0172
a0002c0003t0036g0176
others(9): Show 
a0002c0003t0017g0179
a0002c0003t0018g0172
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0089g0175
a0002c0003t0131g0193
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0146g0170
a0002c0003t0148g0174
a0004c0008t0036g0207
 12 HG00323.hp2
HG00423.hp1
HG01070.hp2
others(9): Show 
HG00323.hp2
HG00423.hp1
HG01070.hp2
HG01071.hp1
HG02074.hp2
HG02129.hp1
HG02738.hp2
NA18957.hp2
NA18979.hp2
NA18983.hp1
NA18986.hp1
NA19090.hp2
 intron_variant MODIFIER c.286-5653_286-5548d
others(108): Show 
c.286-5653_286-5548dupCAGAACATTATGTTTAAAACAGTCCTCT
TCTGTAATTAACCCATTGCCCCCCCCAGAACATTATGTTTAAAACAGTCC
TCTTCTGTAATTAACCCATTGCCCCCCC
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 667442
chr17:667494 TG
TG
 T
T
 14 a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
others(11): Show 
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0097g0199
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0105g0201
a0001c0001t0118g0195
a0001c0001t0134g0154
 14 HG01109.hp2
HG01346.hp2
HG01884.hp1
others(11): Show 
HG01109.hp2
HG01346.hp2
HG01884.hp1
HG01891.hp2
HG02572.hp2
HG02622.hp1
HG02622.hp2
HG02723.hp2
HG02818.hp1
HG02922.hp2
HG03139.hp1
HG03139.hp2
NA20129.hp2
NA20300.hp1
 intron_variant MODIFIER c.286-5600delC
c.286-5600delC
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 667494
chr17:667495 G
G
 C
C
 5 a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
others(2): Show 
a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0005t0080g0092
a0001c0011t0051g0091
 5 HG01074.hp2
NA18747.hp2
NA18955.hp2
others(2): Show 
HG01074.hp2
NA18747.hp2
NA18955.hp2
NA18984.hp2
NA19064.hp2
 intron_variant MODIFIER c.286-5600C>G
c.286-5600C>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 667495
chr17:667497 G
G
 GGGGGGCA
others(99): Show 
GGGGGGCAATGGGTTAATTACAGAAGAGGACTGTTTTAAACATAATGTTC
TGGGGGGGGCAATGGGTTAATTACAGAAGAGGACTGTTTTAAACATAATG
TTCTGGT
 1 a0002c0003t0037g0168
a0002c0003t0037g0168
 1 HG02132.hp1
HG02132.hp1
 intron_variant MODIFIER c.286-5603_286-5602i
others(108): Show 
c.286-5603_286-5602insACCAGAACATTATGTTTAAAACAGTCCT
CTTCTGTAATTAACCCATTGCCCCCCCCAGAACATTATGTTTAAAACAGT
CCTCTTCTGTAATTAACCCATTGCCCCC
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 667497
chr17:667600 TGCGGAGG
others(49): Show 
TGCGGAGGGGGCAATGGGTTAATTACAGAAGAGGACTGTTTTAAACATAA
TGTTCTG
 T
T
 1 a0003c0004t0006g0016
a0003c0004t0006g0016
 1 NA18962.hp1
NA18962.hp1
 intron_variant MODIFIER c.286-5761_286-5706d
others(58): Show 
c.286-5761_286-5706delCAGAACATTATGTTTAAAACAGTCCTCT
TCTGTAATTAACCCATTGCCCCCTCCGC
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 667600
chr17:667602 C
C
 CG
CG
 9 a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
others(6): Show 
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
 9 HG02135.hp2
HG02602.hp1
NA18747.hp1
others(6): Show 
HG02135.hp2
HG02602.hp1
NA18747.hp1
NA18960.hp2
NA18994.hp2
NA19000.hp2
NA19010.hp2
NA19087.hp1
NA19091.hp1
 intron_variant MODIFIER c.286-5708dupC
c.286-5708dupC
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 667602
chr17:667605 A
A
 AGGGGGCA
others(48): Show 
AGGGGGCAATGGGTTAATTACAGAAGAGGACTGTTTTAAACATAATGTTC
TGGGGG
 1 a0001c0001t0002g0121
a0001c0001t0002g0121
 1 NA18983.hp2
NA18983.hp2
 intron_variant MODIFIER c.286-5765_286-5711d
others(57): Show 
c.286-5765_286-5711dupCCCCCAGAACATTATGTTTAAAACAGTC
CTCTTCTGTAATTAACCCATTGCCCCC
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 667605
chr17:667605 A
A
 G
G
 53 a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
others(50): Show 
a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0002t0078g0041
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0011t0051g0091
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0017g0179
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0018g0231
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0085g0184
a0002c0003t0089g0175
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0099g0192
a0002c0003t0104g0208
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0145g0187
a0002c0003t0146g0170
a0002c0003t0148g0174
a0002c0003t0150g0191
a0004c0008t0036g0207
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
 53 HG00323.hp2
HG00423.hp1
HG00438.hp2
others(50): Show 
HG00323.hp2
HG00423.hp1
HG00438.hp2
HG00621.hp1
HG01070.hp2
HG01071.hp1
HG01074.hp2
HG01099.hp1
HG01167.hp1
HG01928.hp1
HG01981.hp1
HG02040.hp1
HG02056.hp1
HG02074.hp2
HG02083.hp1
HG02129.hp1
HG02132.hp1
HG02135.hp2
HG02293.hp1
HG02300.hp1
HG02602.hp1
HG02738.hp2
HG03491.hp2
HG03516.hp2
HG03831.hp1
HG03942.hp1
HG04199.hp1
NA18612.hp1
NA18747.hp1
NA18747.hp2
NA18946.hp1
NA18955.hp1
NA18955.hp2
NA18957.hp2
NA18960.hp2
NA18979.hp2
NA18983.hp1
NA18984.hp2
NA18986.hp1
NA18987.hp1
NA18994.hp2
NA19000.hp1
NA19000.hp2
NA19010.hp1
NA19010.hp2
NA19064.hp2
NA19066.hp2
NA19074.hp1
NA19080.hp2
NA19084.hp2
NA19087.hp1
NA19090.hp2
NA19091.hp1
 intron_variant MODIFIER c.286-5710T>C
c.286-5710T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 667605
chr17:667655 TG
TG
 T
T
 142 a0001c0001t0017g0158
a0001c0001t0032g0204
a0001c0001t0033g0205
others(139): Show 
a0001c0001t0017g0158
a0001c0001t0032g0204
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0034g0162
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0108g0148
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0117g0230
a0001c0001t0122g0160
a0001c0001t0127g0159
a0001c0001t0138g0161
a0001c0001t0141g0165
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0078g0041
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0002t0109g0222
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0001c0016t0052g0099
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0017g0179
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0018g0231
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0073g0068
a0002c0003t0085g0184
a0002c0003t0089g0175
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0099g0192
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0145g0187
a0002c0003t0146g0170
a0002c0003t0148g0174
a0002c0003t0150g0191
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
a0004c0008t0036g0207
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
a0007c0013t0132g0163
 142 HG00099.hp1
HG00099.hp2
HG00140.hp2
others(139): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00438.hp2
HG00621.hp1
HG00621.hp2
HG00741.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01256.hp1
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01361.hp1
HG01496.hp1
HG01515.hp1
HG01515.hp2
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01891.hp1
HG01928.hp1
HG01928.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02109.hp1
HG02129.hp1
HG02132.hp1
HG02135.hp1
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02572.hp2
HG02738.hp1
HG02738.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02922.hp1
HG03139.hp1
HG03225.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03516.hp2
HG03688.hp1
HG03831.hp1
HG03942.hp1
HG04199.hp1
HG04204.hp1
HG04204.hp2
NA18612.hp1
NA18612.hp2
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18945.hp1
NA18946.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp2
NA18955.hp1
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18961.hp2
NA18962.hp2
NA18967.hp1
NA18973.hp1
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18984.hp1
NA18986.hp1
NA18986.hp2
NA18990.hp1
NA18994.hp1
NA19000.hp1
NA19007.hp1
NA19009.hp1
NA19010.hp1
NA19011.hp2
NA19060.hp1
NA19064.hp1
NA19065.hp1
NA19066.hp2
NA19068.hp1
NA19070.hp1
NA19074.hp1
NA19079.hp1
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19084.hp1
NA19084.hp2
NA19087.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp2
NA20129.hp1
NA20805.hp1
NA20805.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.286-5761delC
c.286-5761delC
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 667655
chr17:667735 C
C
 G
G
 38 a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
others(35): Show 
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0017g0179
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0018g0231
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0085g0184
a0002c0003t0089g0175
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0099g0192
a0002c0003t0104g0208
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0145g0187
a0002c0003t0146g0170
a0002c0003t0148g0174
a0002c0003t0150g0191
a0004c0008t0036g0207
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
 38 HG00323.hp2
HG00423.hp1
HG00438.hp2
others(35): Show 
HG00323.hp2
HG00423.hp1
HG00438.hp2
HG00621.hp1
HG01070.hp2
HG01071.hp1
HG01099.hp1
HG01167.hp1
HG01928.hp1
HG01981.hp1
HG02040.hp1
HG02056.hp1
HG02074.hp2
HG02083.hp1
HG02129.hp1
HG02132.hp1
HG02293.hp1
HG02300.hp1
HG02738.hp2
HG03491.hp2
HG03831.hp1
HG03942.hp1
HG04199.hp1
NA18612.hp1
NA18946.hp1
NA18955.hp1
NA18957.hp2
NA18979.hp2
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA19000.hp1
NA19010.hp1
NA19066.hp2
NA19074.hp1
NA19080.hp2
NA19084.hp2
NA19090.hp2
 intron_variant MODIFIER c.286-5840G>C
c.286-5840G>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 667735
chr17:667806 C
C
 T
T
 3 a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
 3 NA18612.hp2
NA18990.hp1
NA19011.hp2
NA18612.hp2
NA18990.hp1
NA19011.hp2
 intron_variant MODIFIER c.286-5911G>A
c.286-5911G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 667806
chr17:667824 G
G
 C
C
 1 a0003c0004t0025g0038
a0003c0004t0025g0038
 1 NA19068.hp1
NA19068.hp1
 intron_variant MODIFIER c.286-5929C>G
c.286-5929C>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 667824
chr17:667985 T
T
 G
G
 1 a0001c0001t0069g0012
a0001c0001t0069g0012
 1 NA19079.hp2
NA19079.hp2
 intron_variant MODIFIER c.286-6090A>C
c.286-6090A>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 667985
chr17:668170 C
C
 T
T
 1 a0003c0004t0005g0027
a0003c0004t0005g0027
 1 NA19081.hp1
NA19081.hp1
 intron_variant MODIFIER c.286-6275G>A
c.286-6275G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 668170
chr17:668184 G
G
 T
T
 15 a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
others(12): Show 
a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0002t0078g0041
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0011t0051g0091
 15 HG01074.hp2
HG02135.hp2
HG02602.hp1
others(12): Show 
HG01074.hp2
HG02135.hp2
HG02602.hp1
HG03516.hp2
NA18747.hp1
NA18747.hp2
NA18955.hp2
NA18960.hp2
NA18984.hp2
NA18994.hp2
NA19000.hp2
NA19010.hp2
NA19064.hp2
NA19087.hp1
NA19091.hp1
 intron_variant MODIFIER c.286-6289C>A
c.286-6289C>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 668184
chr17:668354 T
T
 C
C
 5 a0001c0001t0017g0158
a0001c0001t0034g0162
a0001c0001t0122g0160
others(2): Show 
a0001c0001t0017g0158
a0001c0001t0034g0162
a0001c0001t0122g0160
a0001c0001t0138g0161
a0001c0001t0141g0165
 5 HG00741.hp1
HG01106.hp2
HG01109.hp1
others(2): Show 
HG00741.hp1
HG01106.hp2
HG01109.hp1
HG01257.hp1
HG01258.hp2
 intron_variant MODIFIER c.286-6459A>G
c.286-6459A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 668354
chr17:668391 C
C
 T
T
 29 a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
others(26): Show 
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
 29 HG01257.hp2
HG01516.hp2
HG01517.hp1
others(26): Show 
HG01257.hp2
HG01516.hp2
HG01517.hp1
HG02074.hp1
HG02109.hp1
HG03831.hp2
NA18612.hp2
NA18906.hp1
NA18945.hp1
NA18950.hp2
NA18957.hp1
NA18959.hp1
NA18962.hp1
NA18977.hp1
NA18978.hp1
NA18984.hp1
NA18986.hp2
NA18990.hp1
NA18994.hp1
NA19011.hp2
NA19060.hp1
NA19064.hp1
NA19068.hp1
NA19080.hp1
NA19081.hp1
NA19087.hp2
NA19091.hp2
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.286-6496G>A
c.286-6496G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 668391
chr17:668559 G
G
 A
A
 1 a0001c0002t0078g0041
a0001c0002t0078g0041
 1 HG03516.hp2
HG03516.hp2
 intron_variant MODIFIER c.286-6664C>T
c.286-6664C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 668559
chr17:668600 C
C
 A
A
 15 a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
others(12): Show 
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0097g0199
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0105g0201
a0001c0001t0118g0195
a0001c0001t0134g0154
a0001c0002t0050g0049
 15 HG01109.hp2
HG01346.hp2
HG01884.hp1
others(12): Show 
HG01109.hp2
HG01346.hp2
HG01884.hp1
HG01891.hp2
HG02280.hp1
HG02572.hp2
HG02622.hp1
HG02622.hp2
HG02723.hp2
HG02818.hp1
HG02922.hp2
HG03139.hp1
HG03139.hp2
NA20129.hp2
NA20300.hp1
 intron_variant MODIFIER c.286-6705G>T
c.286-6705G>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 668600
chr17:668687 T
T
 C
C
 4 a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0141
others(1): Show 
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0141
a0001c0001t0002g0210
 4 HG02040.hp2
HG02083.hp2
NA18940.hp2
others(1): Show 
HG02040.hp2
HG02083.hp2
NA18940.hp2
NA19074.hp2
 intron_variant MODIFIER c.286-6792A>G
c.286-6792A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 668687
chr17:668853 C
C
 A
A
 15 a0001c0001t0017g0158
a0001c0001t0032g0204
a0001c0001t0033g0205
others(12): Show 
a0001c0001t0017g0158
a0001c0001t0032g0204
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0034g0162
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0122g0160
a0001c0001t0127g0159
a0001c0001t0138g0161
a0001c0001t0141g0165
a0001c0014t0135g0166
a0001c0015t0126g0149
a0002c0010t0038g0156
a0007c0013t0132g0163
 15 HG00741.hp1
HG01106.hp2
HG01109.hp1
others(12): Show 
HG00741.hp1
HG01106.hp2
HG01109.hp1
HG01257.hp1
HG01258.hp2
HG01891.hp1
HG02572.hp1
HG02723.hp1
HG02886.hp2
HG02895.hp2
HG02922.hp1
HG03225.hp1
HG04204.hp1
NA20129.hp1
NA21309.hp1
 intron_variant MODIFIER c.286-6958G>T
c.286-6958G>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 668853
chr17:669020 T
T
 G
G
 5 a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
others(2): Show 
a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0005t0080g0092
a0001c0011t0051g0091
 5 HG01074.hp2
NA18747.hp2
NA18955.hp2
others(2): Show 
HG01074.hp2
NA18747.hp2
NA18955.hp2
NA18984.hp2
NA19064.hp2
 intron_variant MODIFIER c.286-7125A>C
c.286-7125A>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 669020
chr17:669214 C
C
 A
A
 9 a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
others(6): Show 
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
 9 HG02135.hp2
HG02602.hp1
NA18747.hp1
others(6): Show 
HG02135.hp2
HG02602.hp1
NA18747.hp1
NA18960.hp2
NA18994.hp2
NA19000.hp2
NA19010.hp2
NA19087.hp1
NA19091.hp1
 intron_variant MODIFIER c.286-7319G>T
c.286-7319G>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 669214
chr17:669223 A
A
 T
T
 2 a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0053
a0001c0002t0003g0054
 2 HG01071.hp2
HG01074.hp1
HG01071.hp2
HG01074.hp1
 intron_variant MODIFIER c.286-7328T>A
c.286-7328T>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 669223
chr17:669230 C
C
 T
T
 5 a0004c0008t0035g0203
a0004c0008t0103g0227
a0004c0008t0124g0229
others(2): Show 
a0004c0008t0035g0203
a0004c0008t0103g0227
a0004c0008t0124g0229
a0004c0008t0133g0232
a0004c0008t0142g0228
 5 HG04184.hp1
NA18973.hp2
NA18990.hp2
others(2): Show 
HG04184.hp1
NA18973.hp2
NA18990.hp2
NA19011.hp1
NA19066.hp1
 intron_variant MODIFIER c.286-7335G>A
c.286-7335G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 669230
chr17:669302 C
C
 T
T
 5 a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
others(2): Show 
a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0005t0080g0092
a0001c0011t0051g0091
 5 HG01074.hp2
NA18747.hp2
NA18955.hp2
others(2): Show 
HG01074.hp2
NA18747.hp2
NA18955.hp2
NA18984.hp2
NA19064.hp2
 intron_variant MODIFIER c.286-7407G>A
c.286-7407G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 669302
chr17:669317 G
G
 A
A
 1 a0002c0003t0009g0186
a0002c0003t0009g0186
 1 HG02040.hp1
HG02040.hp1
 intron_variant MODIFIER c.286-7422C>T
c.286-7422C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 669317
chr17:669347 C
C
 T
T
 2 a0001c0001t0087g0198
a0001c0001t0105g0201
a0001c0001t0087g0198
a0001c0001t0105g0201
 2 HG01109.hp2
HG02818.hp1
HG01109.hp2
HG02818.hp1
 intron_variant MODIFIER c.286-7452G>A
c.286-7452G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 669347
chr17:669486 C
C
 T
T
 1 a0001c0002t0149g0202
a0001c0002t0149g0202
 1 HG03942.hp2
HG03942.hp2
 intron_variant MODIFIER c.286-7591G>A
c.286-7591G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 669486
chr17:669592 T
T
 TA
TA
 29 a0001c0002t0049g0048
a0003c0004t0003g0018
a0003c0004t0003g0036
others(26): Show 
a0001c0002t0049g0048
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
a0006c0012t0129g0140
 29 HG01516.hp2
HG01517.hp1
HG02074.hp1
others(26): Show 
HG01516.hp2
HG01517.hp1
HG02074.hp1
HG02109.hp1
HG02145.hp2
HG03831.hp2
NA18612.hp2
NA18906.hp1
NA18945.hp1
NA18950.hp2
NA18957.hp1
NA18959.hp1
NA18961.hp2
NA18962.hp1
NA18978.hp1
NA18978.hp2
NA18984.hp1
NA18986.hp2
NA18990.hp1
NA18994.hp1
NA19011.hp2
NA19060.hp1
NA19064.hp1
NA19080.hp1
NA19081.hp1
NA19087.hp2
NA19091.hp2
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.286-7698dupT
c.286-7698dupT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 669592
chr17:669592 T
T
 TAAAAA
TAAAAA
 39 a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
others(36): Show 
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0002c0003t0073g0068
 39 HG00140.hp2
HG00280.hp1
HG00323.hp1
others(36): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp1
HG00621.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01106.hp1
HG01167.hp2
HG01168.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01361.hp1
HG01496.hp1
HG01978.hp1
HG02886.hp1
HG04204.hp2
NA18906.hp2
NA18940.hp1
NA18944.hp1
NA18946.hp2
NA18948.hp2
NA18959.hp2
NA18960.hp1
NA18962.hp2
NA18967.hp1
NA18973.hp1
NA18977.hp2
NA18979.hp1
NA19007.hp1
NA19009.hp1
NA19065.hp1
NA19070.hp1
NA19079.hp1
NA19090.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.286-7702_286-7698d
others(7): Show 
c.286-7702_286-7698dupTTTTT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 669592
chr17:669592 T
T
 TAAAAAA
TAAAAAA
 8 a0001c0002t0001g0090
a0001c0002t0005g0061
a0001c0002t0010g0087
others(5): Show 
a0001c0002t0001g0090
a0001c0002t0005g0061
a0001c0002t0010g0087
a0002c0003t0008g0180
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0091g0209
a0002c0003t0150g0191
 8 HG01099.hp1
HG01981.hp1
HG02135.hp1
others(5): Show 
HG01099.hp1
HG01981.hp1
HG02135.hp1
HG02293.hp1
HG02300.hp1
HG02738.hp1
NA19010.hp1
NA19084.hp1
 intron_variant MODIFIER c.286-7703_286-7698d
others(8): Show 
c.286-7703_286-7698dupTTTTTT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 669592
chr17:669592 T
T
 TAAAAAAA
others(4): Show 
TAAAAAAAAAAA
 1 a0002c0003t0093g0173
a0002c0003t0093g0173
 1 HG01167.hp1
HG01167.hp1
 intron_variant MODIFIER c.286-7708_286-7698d
others(13): Show 
c.286-7708_286-7698dupTTTTTTTTTTT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 669592
chr17:669592 T
T
 TAAAAAAA
others(5): Show 
TAAAAAAAAAAAA
 3 a0002c0003t0009g0185
a0002c0003t0085g0184
a0002c0003t0148g0174
a0002c0003t0009g0185
a0002c0003t0085g0184
a0002c0003t0148g0174
 3 HG01928.hp1
HG03491.hp2
NA18979.hp2
HG01928.hp1
HG03491.hp2
NA18979.hp2
 intron_variant MODIFIER c.286-7709_286-7698d
others(14): Show 
c.286-7709_286-7698dupTTTTTTTTTTTT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 669592
chr17:669592 T
T
 TAAAAAAA
others(6): Show 
TAAAAAAAAAAAAA
 18 a0002c0003t0008g0182
a0002c0003t0009g0186
a0002c0003t0009g0188
others(15): Show 
a0002c0003t0008g0182
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0017g0179
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0018g0231
a0002c0003t0027g0181
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0089g0175
a0002c0003t0090g0171
a0002c0003t0092g0190
a0002c0003t0104g0208
a0002c0003t0139g0167
a0002c0003t0145g0187
a0004c0008t0036g0207
a0005c0009t0147g0177
 18 HG00423.hp1
HG00621.hp1
HG02040.hp1
others(15): Show 
HG00423.hp1
HG00621.hp1
HG02040.hp1
HG02074.hp2
HG02083.hp1
HG02129.hp1
HG02132.hp1
HG03942.hp1
HG04199.hp1
NA18612.hp1
NA18957.hp2
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA19066.hp2
NA19074.hp1
NA19080.hp2
NA19084.hp2
 intron_variant MODIFIER c.286-7710_286-7698d
others(15): Show 
c.286-7710_286-7698dupTTTTTTTTTTTTT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 669592
chr17:669592 T
T
 TAAAAAAA
others(7): Show 
TAAAAAAAAAAAAAA
 10 a0002c0003t0009g0218
a0002c0003t0027g0169
a0002c0003t0036g0176
others(7): Show 
a0002c0003t0009g0218
a0002c0003t0027g0169
a0002c0003t0036g0176
a0002c0003t0099g0192
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0140g0194
a0002c0003t0146g0170
a0005c0009t0130g0178
a0005c0009t0137g0189
 10 HG00323.hp2
HG00438.hp2
HG01070.hp2
others(7): Show 
HG00323.hp2
HG00438.hp2
HG01070.hp2
HG01071.hp1
HG02056.hp1
HG03831.hp1
NA18946.hp1
NA18955.hp1
NA19000.hp1
NA19090.hp2
 intron_variant MODIFIER c.286-7711_286-7698d
others(16): Show 
c.286-7711_286-7698dupTTTTTTTTTTTTTT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 669592
chr17:669592 T
T
 TAAAAAAA
others(8): Show 
TAAAAAAAAAAAAAAA
 2 a0001c0011t0051g0091
a0002c0003t0144g0215
a0001c0011t0051g0091
a0002c0003t0144g0215
 2 HG01074.hp2
HG02738.hp2
HG01074.hp2
HG02738.hp2
 intron_variant MODIFIER c.286-7712_286-7698d
others(17): Show 
c.286-7712_286-7698dupTTTTTTTTTTTTTTT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 669592
chr17:669592 T
T
 TAAAAAAA
others(9): Show 
TAAAAAAAAAAAAAAAA
 14 a0001c0001t0117g0230
a0001c0005t0020g0010
a0001c0006t0021g0100
others(11): Show 
a0001c0001t0117g0230
a0001c0005t0020g0010
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0111
a0001c0007t0023g0109
a0001c0016t0052g0099
 14 HG00099.hp2
HG00280.hp2
HG01081.hp2
others(11): Show 
HG00099.hp2
HG00280.hp2
HG01081.hp2
HG01099.hp2
HG01168.hp2
HG01192.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp2
HG01978.hp2
HG03491.hp1
HG03492.hp1
NA18948.hp1
NA19091.hp1
 intron_variant MODIFIER c.286-7713_286-7698d
others(18): Show 
c.286-7713_286-7698dupTTTTTTTTTTTTTTTT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 669592
chr17:669592 T
T
 TAAAAAAA
others(10): Show 
TAAAAAAAAAAAAAAAAA
 6 a0001c0006t0001g0113
a0001c0006t0040g0002
a0001c0007t0012g0108
others(3): Show 
a0001c0006t0001g0113
a0001c0006t0040g0002
a0001c0007t0012g0108
a0001c0007t0023g0107
a0001c0007t0062g0104
a0001c0007t0070g0112
 6 HG01175.hp2
HG01496.hp2
HG01928.hp2
others(3): Show 
HG01175.hp2
HG01496.hp2
HG01928.hp2
HG01981.hp2
HG02293.hp2
HG03688.hp1
 intron_variant MODIFIER c.286-7698_286-7697i
others(19): Show 
c.286-7698_286-7697insTTTTTTTTTTTTTTTTT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 669592
chr17:669592 T
T
 TAAAAAAA
others(11): Show 
TAAAAAAAAAAAAAAAAAA
 4 a0001c0005t0020g0005
a0001c0005t0042g0044
a0001c0006t0041g0001
others(1): Show 
a0001c0005t0020g0005
a0001c0005t0042g0044
a0001c0006t0041g0001
a0001c0007t0012g0110
 4 HG01175.hp1
HG02300.hp2
NA19000.hp2
others(1): Show 
HG01175.hp1
HG02300.hp2
NA19000.hp2
NA19087.hp1
 intron_variant MODIFIER c.286-7698_286-7697i
others(20): Show 
c.286-7698_286-7697insTTTTTTTTTTTTTTTTTT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 669592
chr17:669592 T
T
 TAAAAAAA
others(14): Show 
TAAAAAAAAAAAAAAAAAAAAA
 6 a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0078g0041
others(3): Show 
a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0078g0041
a0001c0005t0010g0008
a0001c0005t0044g0096
a0001c0005t0080g0092
 6 HG03516.hp2
NA18747.hp1
NA18747.hp2
others(3): Show 
HG03516.hp2
NA18747.hp1
NA18747.hp2
NA18955.hp2
NA18960.hp2
NA18984.hp2
 intron_variant MODIFIER c.286-7698_286-7697i
others(23): Show 
c.286-7698_286-7697insTTTTTTTTTTTTTTTTTTTTT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 669592
chr17:669592 T
T
 TAAAAAAA
others(15): Show 
TAAAAAAAAAAAAAAAAAAAAAA
 4 a0001c0002t0077g0095
a0001c0005t0019g0006
a0001c0005t0019g0007
others(1): Show 
a0001c0002t0077g0095
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0045g0009
 4 HG02135.hp2
HG02602.hp1
NA19010.hp2
others(1): Show 
HG02135.hp2
HG02602.hp1
NA19010.hp2
NA19064.hp2
 intron_variant MODIFIER c.286-7698_286-7697i
others(24): Show 
c.286-7698_286-7697insTTTTTTTTTTTTTTTTTTTTTT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 669592
chr17:669592 T
T
 TAAAAAAA
others(16): Show 
TAAAAAAAAAAAAAAAAAAAAAAA
 1 a0001c0005t0046g0011
a0001c0005t0046g0011
 1 NA18994.hp2
NA18994.hp2
 intron_variant MODIFIER c.286-7698_286-7697i
others(25): Show 
c.286-7698_286-7697insTTTTTTTTTTTTTTTTTTTTTTT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 669592
chr17:669694 C
C
 A
A
 34 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(31): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0034g0126
a0001c0001t0069g0012
a0001c0001t0094g0129
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0110g0127
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0123g0123
a0001c0001t0128g0132
a0006c0012t0129g0140
 34 HG00423.hp2
HG00741.hp2
HG01255.hp2
others(31): Show 
HG00423.hp2
HG00741.hp2
HG01255.hp2
HG01256.hp2
HG01361.hp2
HG01884.hp2
HG02040.hp2
HG02056.hp2
HG02083.hp2
HG02109.hp2
HG02129.hp2
HG02132.hp2
HG02280.hp2
HG02602.hp2
HG03492.hp2
HG03688.hp2
HG04184.hp2
HG04199.hp2
NA18940.hp2
NA18945.hp2
NA18950.hp1
NA18961.hp1
NA18967.hp2
NA18978.hp2
NA18983.hp2
NA18987.hp2
NA19009.hp2
NA19060.hp2
NA19065.hp2
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19079.hp2
NA19081.hp2
 intron_variant MODIFIER c.286-7799G>T
c.286-7799G>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 669694
chr17:669900 A
A
 G
G
 14 a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
others(11): Show 
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0097g0199
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0105g0201
a0001c0001t0118g0195
a0001c0001t0134g0154
 14 HG01109.hp2
HG01346.hp2
HG01884.hp1
others(11): Show 
HG01109.hp2
HG01346.hp2
HG01884.hp1
HG01891.hp2
HG02572.hp2
HG02622.hp1
HG02622.hp2
HG02723.hp2
HG02818.hp1
HG02922.hp2
HG03139.hp1
HG03139.hp2
NA20129.hp2
NA20300.hp1
 intron_variant MODIFIER c.286-8005T>C
c.286-8005T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 669900
chr17:670058 G
G
 A
A
 63 a0001c0001t0117g0230
a0001c0002t0001g0045
a0001c0002t0001g0056
others(60): Show 
a0001c0001t0117g0230
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0001c0016t0052g0099
a0002c0003t0073g0068
 63 HG00099.hp2
HG00140.hp2
HG00280.hp1
others(60): Show 
HG00099.hp2
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00621.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01106.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01361.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp2
HG01928.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp2
HG02135.hp1
HG02293.hp2
HG02300.hp2
HG02738.hp1
HG02886.hp1
HG03491.hp1
HG03492.hp1
HG03688.hp1
HG04204.hp2
NA18906.hp2
NA18940.hp1
NA18944.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18959.hp2
NA18960.hp1
NA18962.hp2
NA18967.hp1
NA18973.hp1
NA18977.hp2
NA18979.hp1
NA19007.hp1
NA19009.hp1
NA19065.hp1
NA19070.hp1
NA19079.hp1
NA19084.hp1
NA19090.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.286-8163C>T
c.286-8163C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 670058
chr17:670185 CTGAACTG
others(8): Show 
CTGAACTGGGCACTGG
 C
C
 177 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(174): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0017g0158
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0032g0114
a0001c0001t0032g0204
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0034g0126
a0001c0001t0034g0162
a0001c0001t0069g0012
a0001c0001t0084g0046
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0097g0199
a0001c0001t0098g0147
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0105g0201
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0108g0148
a0001c0001t0110g0127
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0118g0195
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0122g0160
a0001c0001t0123g0123
a0001c0001t0127g0159
a0001c0001t0128g0132
a0001c0001t0134g0154
a0001c0001t0138g0161
a0001c0001t0141g0165
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0017g0225
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0035g0219
a0001c0002t0038g0224
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0050g0049
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0002t0086g0221
a0001c0002t0100g0223
a0001c0002t0109g0222
a0001c0002t0125g0116
a0001c0002t0143g0226
a0001c0002t0149g0202
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0001c0014t0135g0166
a0001c0015t0126g0149
a0001c0016t0052g0099
a0002c0003t0073g0068
a0002c0010t0038g0156
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
a0004c0008t0035g0203
a0004c0008t0103g0227
a0004c0008t0124g0229
a0004c0008t0133g0232
a0004c0008t0142g0228
a0006c0012t0129g0140
a0007c0013t0132g0163
 177 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(174): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00423.hp2
HG00438.hp1
HG00621.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp2
HG02040.hp2
HG02056.hp2
HG02074.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02132.hp2
HG02135.hp1
HG02145.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03688.hp1
HG03688.hp2
HG03831.hp2
HG03942.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp2
HG04204.hp1
HG04204.hp2
NA18612.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18957.hp1
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18967.hp1
NA18967.hp2
NA18973.hp1
NA18973.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18983.hp2
NA18984.hp1
NA18986.hp2
NA18987.hp2
NA18990.hp1
NA18990.hp2
NA18994.hp1
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19011.hp1
NA19011.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19081.hp1
NA19081.hp2
NA19084.hp1
NA19087.hp2
NA19090.hp1
NA19091.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.286-8305_286-8291d
others(17): Show 
c.286-8305_286-8291delCCAGTGCCCAGTTCA
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 670185
chr17:670279 G
G
 A
A
 1 a0002c0003t0145g0187
a0002c0003t0145g0187
 1 HG04199.hp1
HG04199.hp1
 intron_variant MODIFIER c.286-8384C>T
c.286-8384C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 670279
chr17:670281 T
T
 C
C
 53 a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
others(50): Show 
a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0002t0078g0041
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0011t0051g0091
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0017g0179
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0018g0231
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0085g0184
a0002c0003t0089g0175
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0099g0192
a0002c0003t0104g0208
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0145g0187
a0002c0003t0146g0170
a0002c0003t0148g0174
a0002c0003t0150g0191
a0004c0008t0036g0207
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
 53 HG00323.hp2
HG00423.hp1
HG00438.hp2
others(50): Show 
HG00323.hp2
HG00423.hp1
HG00438.hp2
HG00621.hp1
HG01070.hp2
HG01071.hp1
HG01074.hp2
HG01099.hp1
HG01167.hp1
HG01928.hp1
HG01981.hp1
HG02040.hp1
HG02056.hp1
HG02074.hp2
HG02083.hp1
HG02129.hp1
HG02132.hp1
HG02135.hp2
HG02293.hp1
HG02300.hp1
HG02602.hp1
HG02738.hp2
HG03491.hp2
HG03516.hp2
HG03831.hp1
HG03942.hp1
HG04199.hp1
NA18612.hp1
NA18747.hp1
NA18747.hp2
NA18946.hp1
NA18955.hp1
NA18955.hp2
NA18957.hp2
NA18960.hp2
NA18979.hp2
NA18983.hp1
NA18984.hp2
NA18986.hp1
NA18987.hp1
NA18994.hp2
NA19000.hp1
NA19000.hp2
NA19010.hp1
NA19010.hp2
NA19064.hp2
NA19066.hp2
NA19074.hp1
NA19080.hp2
NA19084.hp2
NA19087.hp1
NA19090.hp2
NA19091.hp1
 intron_variant MODIFIER c.286-8386A>G
c.286-8386A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 670281
chr17:670474 G
G
 A
A
 63 a0001c0001t0117g0230
a0001c0002t0001g0045
a0001c0002t0001g0056
others(60): Show 
a0001c0001t0117g0230
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0001c0016t0052g0099
a0002c0003t0073g0068
 63 HG00099.hp2
HG00140.hp2
HG00280.hp1
others(60): Show 
HG00099.hp2
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00621.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01106.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01361.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp2
HG01928.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp2
HG02135.hp1
HG02293.hp2
HG02300.hp2
HG02738.hp1
HG02886.hp1
HG03491.hp1
HG03492.hp1
HG03688.hp1
HG04204.hp2
NA18906.hp2
NA18940.hp1
NA18944.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18959.hp2
NA18960.hp1
NA18962.hp2
NA18967.hp1
NA18973.hp1
NA18977.hp2
NA18979.hp1
NA19007.hp1
NA19009.hp1
NA19065.hp1
NA19070.hp1
NA19079.hp1
NA19084.hp1
NA19090.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.286-8579C>T
c.286-8579C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 670474
chr17:670702 G
G
 A
A
 31 a0001c0002t0078g0041
a0003c0004t0003g0015
a0003c0004t0003g0018
others(28): Show 
a0001c0002t0078g0041
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
 31 HG01257.hp2
HG01516.hp2
HG01517.hp1
others(28): Show 
HG01257.hp2
HG01516.hp2
HG01517.hp1
HG02074.hp1
HG02109.hp1
HG03516.hp2
HG03831.hp2
NA18612.hp2
NA18906.hp1
NA18945.hp1
NA18950.hp2
NA18957.hp1
NA18959.hp1
NA18961.hp2
NA18962.hp1
NA18977.hp1
NA18978.hp1
NA18984.hp1
NA18986.hp2
NA18990.hp1
NA18994.hp1
NA19011.hp2
NA19060.hp1
NA19064.hp1
NA19068.hp1
NA19080.hp1
NA19081.hp1
NA19087.hp2
NA19091.hp2
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.286-8807C>T
c.286-8807C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 670702
chr17:670730 G
G
 A
A
 15 a0001c0002t0017g0225
a0001c0002t0035g0219
a0001c0002t0038g0224
others(12): Show 
a0001c0002t0017g0225
a0001c0002t0035g0219
a0001c0002t0038g0224
a0001c0002t0050g0049
a0001c0002t0086g0221
a0001c0002t0100g0223
a0001c0002t0109g0222
a0001c0002t0125g0116
a0001c0002t0143g0226
a0001c0002t0149g0202
a0004c0008t0035g0203
a0004c0008t0103g0227
a0004c0008t0124g0229
a0004c0008t0133g0232
a0004c0008t0142g0228
 15 HG00099.hp1
HG00140.hp1
HG00438.hp1
others(12): Show 
HG00099.hp1
HG00140.hp1
HG00438.hp1
HG01346.hp1
HG01516.hp1
HG02145.hp1
HG02280.hp1
HG03942.hp2
HG04184.hp1
NA18944.hp2
NA18973.hp2
NA18990.hp2
NA19007.hp2
NA19011.hp1
NA19066.hp1
 intron_variant MODIFIER c.286-8835C>T
c.286-8835C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 670730
chr17:670805 A
A
 G
G
 215 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(212): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0017g0158
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0032g0114
a0001c0001t0032g0204
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0034g0126
a0001c0001t0034g0162
a0001c0001t0069g0012
a0001c0001t0084g0046
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0097g0199
a0001c0001t0098g0147
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0105g0201
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0108g0148
a0001c0001t0110g0127
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0118g0195
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0122g0160
a0001c0001t0123g0123
a0001c0001t0127g0159
a0001c0001t0128g0132
a0001c0001t0134g0154
a0001c0001t0138g0161
a0001c0001t0141g0165
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0001g0094
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0065g0093
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0077g0095
a0001c0002t0078g0041
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0001c0011t0051g0091
a0001c0014t0135g0166
a0001c0015t0126g0149
a0001c0016t0052g0099
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0017g0179
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0018g0231
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0073g0068
a0002c0003t0085g0184
a0002c0003t0089g0175
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0099g0192
a0002c0003t0104g0208
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0145g0187
a0002c0003t0146g0170
a0002c0003t0148g0174
a0002c0003t0150g0191
a0002c0010t0038g0156
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
a0004c0008t0036g0207
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
a0006c0012t0129g0140
a0007c0013t0132g0163
 215 HG00099.hp2
HG00140.hp2
HG00280.hp1
others(212): Show 
HG00099.hp2
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp2
HG00621.hp1
HG00621.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02056.hp1
HG02056.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18944.hp1
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18955.hp1
NA18955.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18967.hp1
NA18967.hp2
NA18973.hp1
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18990.hp1
NA18994.hp1
NA18994.hp2
NA19000.hp1
NA19000.hp2
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19087.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.286-8910T>C
c.286-8910T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 670805
chr17:670904 T
T
 C
C
 30 a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
others(27): Show 
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
 30 HG01257.hp2
HG01516.hp2
HG01517.hp1
others(27): Show 
HG01257.hp2
HG01516.hp2
HG01517.hp1
HG02074.hp1
HG02109.hp1
HG03831.hp2
NA18612.hp2
NA18906.hp1
NA18945.hp1
NA18950.hp2
NA18957.hp1
NA18959.hp1
NA18961.hp2
NA18962.hp1
NA18977.hp1
NA18978.hp1
NA18984.hp1
NA18986.hp2
NA18990.hp1
NA18994.hp1
NA19011.hp2
NA19060.hp1
NA19064.hp1
NA19068.hp1
NA19080.hp1
NA19081.hp1
NA19087.hp2
NA19091.hp2
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.286-9009A>G
c.286-9009A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 670904
chr17:671239 A
A
 AGAAAG
AGAAAG
 230 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(227): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0017g0158
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0032g0114
a0001c0001t0032g0204
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0034g0126
a0001c0001t0034g0162
a0001c0001t0069g0012
a0001c0001t0084g0046
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0097g0199
a0001c0001t0098g0147
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0105g0201
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0108g0148
a0001c0001t0110g0127
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0118g0195
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0122g0160
a0001c0001t0123g0123
a0001c0001t0127g0159
a0001c0001t0128g0132
a0001c0001t0134g0154
a0001c0001t0138g0161
a0001c0001t0141g0165
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0001g0094
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0017g0225
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0035g0219
a0001c0002t0038g0224
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0050g0049
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0065g0093
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0077g0095
a0001c0002t0078g0041
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0002t0086g0221
a0001c0002t0100g0223
a0001c0002t0109g0222
a0001c0002t0125g0116
a0001c0002t0143g0226
a0001c0002t0149g0202
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0001c0011t0051g0091
a0001c0014t0135g0166
a0001c0015t0126g0149
a0001c0016t0052g0099
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0017g0179
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0018g0231
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0073g0068
a0002c0003t0085g0184
a0002c0003t0089g0175
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0099g0192
a0002c0003t0104g0208
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0145g0187
a0002c0003t0146g0170
a0002c0003t0148g0174
a0002c0003t0150g0191
a0002c0010t0038g0156
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
a0004c0008t0035g0203
a0004c0008t0036g0207
a0004c0008t0103g0227
a0004c0008t0124g0229
a0004c0008t0133g0232
a0004c0008t0142g0228
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
a0006c0012t0129g0140
a0007c0013t0132g0163
 230 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(227): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00621.hp1
HG00621.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02056.hp1
HG02056.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18955.hp1
NA18955.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18967.hp1
NA18967.hp2
NA18973.hp1
NA18973.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18990.hp1
NA18990.hp2
NA18994.hp1
NA18994.hp2
NA19000.hp1
NA19000.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19087.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.286-9349_286-9345d
others(7): Show 
c.286-9349_286-9345dupCTTTC
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 671239
chr17:671248 A
A
 G
G
 1 a0001c0002t0078g0041
a0001c0002t0078g0041
 1 HG03516.hp2
HG03516.hp2
 intron_variant MODIFIER c.286-9353T>C
c.286-9353T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 671248
chr17:671594 C
C
 T
T
 1 a0001c0006t0041g0001
a0001c0006t0041g0001
 1 HG01175.hp1
HG01175.hp1
 intron_variant MODIFIER c.286-9699G>A
c.286-9699G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 671594
chr17:671644 G
G
 A
A
 5 a0001c0002t0003g0072
a0001c0002t0013g0083
a0001c0002t0024g0073
others(2): Show 
a0001c0002t0003g0072
a0001c0002t0013g0083
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0079g0086
 5 HG01081.hp1
HG01106.hp1
HG01361.hp1
others(2): Show 
HG01081.hp1
HG01106.hp1
HG01361.hp1
HG01496.hp1
NA20805.hp2
 intron_variant MODIFIER c.286-9749C>T
c.286-9749C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 671644
chr17:671706 C
C
 CT
CT
 65 a0001c0001t0113g0122
a0001c0002t0017g0225
a0002c0003t0008g0180
others(62): Show 
a0001c0001t0113g0122
a0001c0002t0017g0225
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0018g0231
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0085g0184
a0002c0003t0089g0175
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0099g0192
a0002c0003t0104g0208
a0002c0003t0131g0193
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0145g0187
a0002c0003t0146g0170
a0002c0003t0148g0174
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
a0004c0008t0036g0207
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
 65 HG00323.hp2
HG00423.hp1
HG00438.hp2
others(62): Show 
HG00323.hp2
HG00423.hp1
HG00438.hp2
HG00621.hp1
HG00741.hp2
HG01070.hp2
HG01071.hp1
HG01099.hp1
HG01167.hp1
HG01257.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG02040.hp1
HG02056.hp1
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02109.hp1
HG02129.hp1
HG02132.hp1
HG02293.hp1
HG02300.hp1
HG02738.hp2
HG03491.hp2
HG03831.hp2
HG03942.hp1
HG04199.hp1
NA18612.hp1
NA18612.hp2
NA18906.hp1
NA18945.hp1
NA18946.hp1
NA18950.hp2
NA18955.hp1
NA18957.hp1
NA18959.hp1
NA18961.hp2
NA18962.hp1
NA18977.hp1
NA18978.hp1
NA18979.hp2
NA18983.hp1
NA18984.hp1
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18990.hp1
NA18994.hp1
NA19000.hp1
NA19010.hp1
NA19060.hp1
NA19064.hp1
NA19066.hp2
NA19068.hp1
NA19074.hp1
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19084.hp2
NA19087.hp2
NA19090.hp2
NA19091.hp2
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.286-9812dupA
c.286-9812dupA
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 671706
chr17:671706 C
C
 CTT
CTT
 18 a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
others(15): Show 
a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0002t0078g0041
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0011t0051g0091
a0002c0003t0009g0185
a0002c0003t0136g0216
a0003c0004t0004g0021
 18 HG01074.hp2
HG01928.hp1
HG02135.hp2
others(15): Show 
HG01074.hp2
HG01928.hp1
HG02135.hp2
HG02602.hp1
HG03516.hp2
HG03831.hp1
NA18747.hp1
NA18747.hp2
NA18955.hp2
NA18960.hp2
NA18984.hp2
NA18994.hp2
NA19000.hp2
NA19010.hp2
NA19011.hp2
NA19064.hp2
NA19087.hp1
NA19091.hp1
 intron_variant MODIFIER c.286-9813_286-9812d
others(4): Show 
c.286-9813_286-9812dupAA
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 671706
chr17:671741 C
C
 T
T
 1 a0001c0002t0086g0221
a0001c0002t0086g0221
 1 HG02145.hp1
HG02145.hp1
 intron_variant MODIFIER c.286-9846G>A
c.286-9846G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 671741
chr17:671742 G
G
 A
A
 10 a0001c0001t0117g0230
a0001c0007t0011g0105
a0001c0007t0011g0106
others(7): Show 
a0001c0001t0117g0230
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
 10 HG01081.hp2
HG01175.hp2
HG01192.hp2
others(7): Show 
HG01081.hp2
HG01175.hp2
HG01192.hp2
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01928.hp2
HG01978.hp2
HG02293.hp2
HG02300.hp2
 intron_variant MODIFIER c.286-9847C>T
c.286-9847C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 671742
chr17:671760 C
C
 T
T
 1 a0003c0004t0006g0033
a0003c0004t0006g0033
 1 NA18950.hp2
NA18950.hp2
 intron_variant MODIFIER c.286-9865G>A
c.286-9865G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 671760
chr17:671838 G
G
 A
A
 63 a0001c0001t0117g0230
a0001c0002t0001g0045
a0001c0002t0001g0056
others(60): Show 
a0001c0001t0117g0230
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0001c0016t0052g0099
a0002c0003t0073g0068
 63 HG00099.hp2
HG00140.hp2
HG00280.hp1
others(60): Show 
HG00099.hp2
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00621.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01106.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01361.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp2
HG01928.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp2
HG02135.hp1
HG02293.hp2
HG02300.hp2
HG02738.hp1
HG02886.hp1
HG03491.hp1
HG03492.hp1
HG03688.hp1
HG04204.hp2
NA18906.hp2
NA18940.hp1
NA18944.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18959.hp2
NA18960.hp1
NA18962.hp2
NA18967.hp1
NA18973.hp1
NA18977.hp2
NA18979.hp1
NA19007.hp1
NA19009.hp1
NA19065.hp1
NA19070.hp1
NA19079.hp1
NA19084.hp1
NA19090.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.286-9943C>T
c.286-9943C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 671838
chr17:671862 T
T
 C
C
 14 a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
others(11): Show 
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0097g0199
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0105g0201
a0001c0001t0118g0195
a0001c0001t0134g0154
 14 HG01109.hp2
HG01346.hp2
HG01884.hp1
others(11): Show 
HG01109.hp2
HG01346.hp2
HG01884.hp1
HG01891.hp2
HG02572.hp2
HG02622.hp1
HG02622.hp2
HG02723.hp2
HG02818.hp1
HG02922.hp2
HG03139.hp1
HG03139.hp2
NA20129.hp2
NA20300.hp1
 intron_variant MODIFIER c.286-9967A>G
c.286-9967A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 671862
chr17:671903 G
G
 A
A
 38 a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
others(35): Show 
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0017g0179
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0018g0231
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0085g0184
a0002c0003t0089g0175
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0099g0192
a0002c0003t0104g0208
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0145g0187
a0002c0003t0146g0170
a0002c0003t0148g0174
a0002c0003t0150g0191
a0004c0008t0036g0207
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
 38 HG00323.hp2
HG00423.hp1
HG00438.hp2
others(35): Show 
HG00323.hp2
HG00423.hp1
HG00438.hp2
HG00621.hp1
HG01070.hp2
HG01071.hp1
HG01099.hp1
HG01167.hp1
HG01928.hp1
HG01981.hp1
HG02040.hp1
HG02056.hp1
HG02074.hp2
HG02083.hp1
HG02129.hp1
HG02132.hp1
HG02293.hp1
HG02300.hp1
HG02738.hp2
HG03491.hp2
HG03831.hp1
HG03942.hp1
HG04199.hp1
NA18612.hp1
NA18946.hp1
NA18955.hp1
NA18957.hp2
NA18979.hp2
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA19000.hp1
NA19010.hp1
NA19066.hp2
NA19074.hp1
NA19080.hp2
NA19084.hp2
NA19090.hp2
 intron_variant MODIFIER c.286-10008C>T
c.286-10008C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 671903
chr17:672109 G
G
 GAC
GAC
 13 a0001c0001t0016g0125
a0001c0001t0029g0151
a0001c0001t0115g0136
others(10): Show 
a0001c0001t0016g0125
a0001c0001t0029g0151
a0001c0001t0115g0136
a0001c0002t0075g0051
a0001c0002t0078g0041
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0010
a0001c0005t0044g0096
a0001c0005t0046g0011
a0001c0006t0074g0097
a0002c0003t0037g0168
a0006c0012t0129g0140
 13 HG01099.hp2
HG02132.hp1
HG02132.hp2
others(10): Show 
HG01099.hp2
HG02132.hp1
HG02132.hp2
HG02602.hp1
HG02622.hp2
HG03492.hp2
HG03516.hp2
NA18960.hp2
NA18978.hp2
NA18994.hp2
NA19010.hp2
NA19070.hp1
NA19091.hp1
 intron_variant MODIFIER c.286-10216_286-1021
others(6): Show 
c.286-10216_286-10215dupGT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 672109
chr17:672109 G
G
 GACAC
GACAC
 49 a0001c0001t0002g0128
a0001c0001t0002g0137
a0001c0001t0016g0118
others(46): Show 
a0001c0001t0002g0128
a0001c0001t0002g0137
a0001c0001t0016g0118
a0001c0001t0032g0114
a0001c0001t0084g0046
a0001c0001t0110g0127
a0001c0001t0114g0142
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0123g0123
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0013g0078
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0050g0049
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0002t0086g0221
a0001c0002t0109g0222
a0001c0002t0125g0116
a0001c0005t0010g0008
a0001c0005t0020g0005
a0001c0005t0042g0044
a0001c0005t0045g0009
a0001c0005t0080g0092
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0001c0016t0052g0099
a0002c0003t0037g0115
a0002c0003t0089g0175
a0002c0003t0139g0167
a0005c0009t0130g0178
 49 HG00099.hp1
HG00140.hp2
HG00280.hp2
others(46): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp2
HG01071.hp2
HG01074.hp1
HG01081.hp2
HG01168.hp2
HG01175.hp2
HG01192.hp2
HG01256.hp1
HG01258.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp2
HG01928.hp2
HG01978.hp2
HG01981.hp2
HG02074.hp2
HG02129.hp2
HG02135.hp2
HG02145.hp1
HG02280.hp1
HG02293.hp2
HG02300.hp2
HG02602.hp2
HG02895.hp1
HG03491.hp1
HG03492.hp1
HG03516.hp1
HG03688.hp1
NA18747.hp1
NA18906.hp2
NA18945.hp2
NA18946.hp1
NA18948.hp1
NA18955.hp2
NA18967.hp2
NA18979.hp1
NA18983.hp1
NA18984.hp2
NA18986.hp1
NA19000.hp2
NA19007.hp2
NA19009.hp2
NA19064.hp2
NA19065.hp2
NA19081.hp2
NA19087.hp1
 intron_variant MODIFIER c.286-10218_286-1021
others(8): Show 
c.286-10218_286-10215dupGTGT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 672109
chr17:672109 G
G
 GACACAC
GACACAC
 37 a0001c0001t0002g0121
a0001c0001t0002g0133
a0001c0001t0002g0139
others(34): Show 
a0001c0001t0002g0121
a0001c0001t0002g0133
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0016g0124
a0001c0001t0030g0119
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0094g0129
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0119g0144
a0001c0001t0121g0143
a0001c0001t0128g0132
a0001c0001t0134g0154
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0035g0219
a0001c0002t0043g0064
a0001c0002t0067g0076
a0001c0002t0100g0223
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0011t0051g0091
a0002c0003t0017g0179
a0002c0003t0018g0172
a0002c0003t0090g0171
a0002c0003t0131g0193
a0002c0003t0140g0194
 37 HG00099.hp2
HG00280.hp1
HG00323.hp1
others(34): Show 
HG00099.hp2
HG00280.hp1
HG00323.hp1
HG00423.hp2
HG00438.hp1
HG01070.hp2
HG01071.hp1
HG01074.hp2
HG01168.hp1
HG01175.hp1
HG01255.hp2
HG01891.hp2
HG02040.hp2
HG02056.hp2
HG02109.hp2
HG02129.hp1
HG02135.hp1
HG02280.hp2
HG02738.hp1
HG02886.hp1
HG04199.hp2
HG04204.hp2
NA18612.hp1
NA18940.hp2
NA18944.hp1
NA18944.hp2
NA18948.hp2
NA18950.hp1
NA18957.hp2
NA18983.hp2
NA18987.hp2
NA19060.hp2
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA20129.hp2
NA20300.hp1
 intron_variant MODIFIER c.286-10220_286-1021
others(10): Show 
c.286-10220_286-10215dupGTGTGT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 672109
chr17:672109 G
G
 GACACACA
others(1): Show 
GACACACAC
 27 a0001c0001t0015g0135
a0001c0001t0030g0120
a0001c0001t0069g0012
others(24): Show 
a0001c0001t0015g0135
a0001c0001t0030g0120
a0001c0001t0069g0012
a0001c0001t0113g0122
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0003g0072
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0038g0224
a0001c0002t0048g0089
a0001c0002t0076g0050
a0001c0002t0079g0086
a0002c0003t0036g0176
a0002c0003t0144g0215
a0002c0010t0038g0156
a0005c0009t0137g0189
a0005c0009t0147g0177
 27 HG00323.hp2
HG00741.hp2
HG01070.hp1
others(24): Show 
HG00323.hp2
HG00741.hp2
HG01070.hp1
HG01081.hp1
HG01106.hp1
HG01167.hp2
HG01346.hp1
HG01361.hp1
HG01496.hp1
HG01884.hp2
HG01978.hp1
HG02738.hp2
NA18955.hp1
NA18959.hp2
NA18961.hp1
NA18962.hp2
NA18973.hp1
NA19007.hp1
NA19009.hp1
NA19065.hp1
NA19066.hp2
NA19079.hp2
NA19084.hp1
NA19090.hp1
NA20805.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.286-10222_286-1021
others(12): Show 
c.286-10222_286-10215dupGTGTGTGT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 672109
chr17:672109 G
G
 GACACACA
others(3): Show 
GACACACACAC
 19 a0001c0001t0002g0134
a0001c0001t0002g0213
a0001c0001t0011g0013
others(16): Show 
a0001c0001t0002g0134
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0096g0146
a0001c0001t0118g0195
a0001c0002t0014g0077
a0001c0002t0017g0225
a0001c0002t0149g0202
a0001c0015t0126g0149
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0218
a0002c0003t0018g0214
a0002c0003t0027g0169
a0002c0003t0085g0184
a0002c0003t0093g0173
a0002c0003t0145g0187
a0002c0003t0146g0170
a0002c0003t0148g0174
 19 HG00621.hp1
HG01099.hp1
HG01167.hp1
others(16): Show 
HG00621.hp1
HG01099.hp1
HG01167.hp1
HG01346.hp2
HG01361.hp2
HG01516.hp1
HG02056.hp1
HG02083.hp2
HG02723.hp1
HG03225.hp2
HG03491.hp2
HG03688.hp2
HG03942.hp2
HG04199.hp1
NA18967.hp1
NA18979.hp2
NA19000.hp1
NA19010.hp1
NA19090.hp2
 intron_variant MODIFIER c.286-10224_286-1021
others(14): Show 
c.286-10224_286-10215dupGTGTGTGTGT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 672109
chr17:672109 G
G
 GACACACA
others(5): Show 
GACACACACACAC
 11 a0001c0001t0034g0126
a0001c0001t0098g0147
a0001c0002t0014g0074
others(8): Show 
a0001c0001t0034g0126
a0001c0001t0098g0147
a0001c0002t0014g0074
a0001c0002t0143g0226
a0001c0014t0135g0166
a0002c0003t0008g0180
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0027g0181
a0002c0003t0091g0209
a0002c0003t0136g0216
 11 HG00140.hp1
HG01255.hp1
HG01256.hp2
others(8): Show 
HG00140.hp1
HG01255.hp1
HG01256.hp2
HG01928.hp1
HG02040.hp1
HG02293.hp1
HG02300.hp1
HG02572.hp1
HG02818.hp2
HG03831.hp1
NA19074.hp1
 intron_variant MODIFIER c.286-10226_286-1021
others(16): Show 
c.286-10226_286-10215dupGTGTGTGTGTGT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 672109
chr17:672109 G
G
 GACACACA
others(7): Show 
GACACACACACACAC
 6 a0001c0001t0095g0145
a0002c0003t0008g0182
a0002c0003t0018g0231
others(3): Show 
a0001c0001t0095g0145
a0002c0003t0008g0182
a0002c0003t0018g0231
a0002c0003t0092g0190
a0002c0003t0104g0208
a0002c0003t0150g0191
 6 HG01981.hp1
HG02083.hp1
HG03942.hp1
others(3): Show 
HG01981.hp1
HG02083.hp1
HG03942.hp1
NA18987.hp1
NA19084.hp2
NA20300.hp2
 intron_variant MODIFIER c.286-10228_286-1021
others(18): Show 
c.286-10228_286-10215dupGTGTGTGTGTGTGT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 672109
chr17:672109 G
G
 GACACACA
others(9): Show 
GACACACACACACACAC
 3 a0001c0001t0120g0211
a0002c0003t0099g0192
a0004c0008t0036g0207
a0001c0001t0120g0211
a0002c0003t0099g0192
a0004c0008t0036g0207
 3 HG00423.hp1
HG00438.hp2
HG04184.hp2
HG00423.hp1
HG00438.hp2
HG04184.hp2
 intron_variant MODIFIER c.286-10230_286-1021
others(20): Show 
c.286-10230_286-10215dupGTGTGTGTGTGTGTGT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 672109
chr17:672109 GACAC
GACAC
 G
G
 6 a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0111g0164
others(3): Show 
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0127g0159
a0007c0013t0132g0163
 6 HG01891.hp1
HG02886.hp2
HG02895.hp2
others(3): Show 
HG01891.hp1
HG02886.hp2
HG02895.hp2
HG03225.hp1
HG04204.hp1
NA20129.hp1
 intron_variant MODIFIER c.286-10218_286-1021
others(8): Show 
c.286-10218_286-10215delGTGT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 672109
chr17:672109 GACACAC
GACACAC
 G
G
 13 a0001c0001t0017g0158
a0001c0001t0032g0204
a0001c0001t0034g0162
others(10): Show 
a0001c0001t0017g0158
a0001c0001t0032g0204
a0001c0001t0034g0162
a0001c0001t0122g0160
a0001c0001t0138g0161
a0001c0001t0141g0165
a0001c0002t0022g0085
a0001c0002t0066g0070
a0001c0002t0072g0071
a0001c0002t0082g0069
a0001c0002t0083g0067
a0002c0003t0009g0188
a0002c0003t0073g0068
 13 HG00621.hp2
HG00741.hp1
HG01106.hp2
others(10): Show 
HG00621.hp2
HG00741.hp1
HG01106.hp2
HG01109.hp1
HG01257.hp1
HG01258.hp2
HG02922.hp1
NA18940.hp1
NA18946.hp2
NA18960.hp1
NA18977.hp2
NA19079.hp1
NA19080.hp2
 intron_variant MODIFIER c.286-10220_286-1021
others(10): Show 
c.286-10220_286-10215delGTGTGT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 672109
chr17:672109 GACACACA
others(3): Show 
GACACACACAC
 G
G
 29 a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
others(26): Show 
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
 29 HG01257.hp2
HG01516.hp2
HG01517.hp1
others(26): Show 
HG01257.hp2
HG01516.hp2
HG01517.hp1
HG02074.hp1
HG02109.hp1
HG03831.hp2
NA18612.hp2
NA18906.hp1
NA18945.hp1
NA18950.hp2
NA18957.hp1
NA18959.hp1
NA18961.hp2
NA18962.hp1
NA18977.hp1
NA18978.hp1
NA18984.hp1
NA18986.hp2
NA18990.hp1
NA18994.hp1
NA19011.hp2
NA19060.hp1
NA19064.hp1
NA19068.hp1
NA19080.hp1
NA19081.hp1
NA19091.hp2
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.286-10224_286-1021
others(14): Show 
c.286-10224_286-10215delGTGTGTGTGT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 672109
chr17:672109 GACACACA
others(5): Show 
GACACACACACAC
 G
G
 1 a0003c0004t0054g0032
a0003c0004t0054g0032
 1 NA19087.hp2
NA19087.hp2
 intron_variant MODIFIER c.286-10226_286-1021
others(16): Show 
c.286-10226_286-10215delGTGTGTGTGTGT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 672109
chr17:672153 A
A
 C
C
 1 a0001c0001t0108g0148
a0001c0001t0108g0148
 1 HG01192.hp1
HG01192.hp1
 intron_variant MODIFIER c.286-10258T>G
c.286-10258T>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 672153
chr17:672154 T
T
 A
A
 1 a0001c0001t0108g0148
a0001c0001t0108g0148
 1 HG01192.hp1
HG01192.hp1
 intron_variant MODIFIER c.286-10259A>T
c.286-10259A>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 672154
chr17:672156 T
T
 A
A
 1 a0001c0001t0108g0148
a0001c0001t0108g0148
 1 HG01192.hp1
HG01192.hp1
 intron_variant MODIFIER c.286-10261A>T
c.286-10261A>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 672156
chr17:672157 C
C
 A
A
 1 a0001c0001t0108g0148
a0001c0001t0108g0148
 1 HG01192.hp1
HG01192.hp1
 intron_variant MODIFIER c.286-10262G>T
c.286-10262G>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 672157
chr17:672164 A
A
 T
T
 1 a0001c0001t0108g0148
a0001c0001t0108g0148
 1 HG01192.hp1
HG01192.hp1
 intron_variant MODIFIER c.286-10269T>A
c.286-10269T>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 672164
chr17:672166 A
A
 T
T
 1 a0001c0001t0108g0148
a0001c0001t0108g0148
 1 HG01192.hp1
HG01192.hp1
 intron_variant MODIFIER c.286-10271T>A
c.286-10271T>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 672166
chr17:672175 A
A
 ATC
ATC
 7 a0001c0001t0031g0155
a0001c0001t0032g0204
a0001c0001t0113g0122
others(4): Show 
a0001c0001t0031g0155
a0001c0001t0032g0204
a0001c0001t0113g0122
a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0007t0062g0104
a0001c0016t0052g0099
 7 HG00741.hp2
HG01168.hp2
HG01891.hp2
others(4): Show 
HG00741.hp2
HG01168.hp2
HG01891.hp2
HG02293.hp2
HG02922.hp1
NA18747.hp2
NA18984.hp2
 intron_variant MODIFIER c.286-10282_286-1028
others(6): Show 
c.286-10282_286-10281dupGA
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 672175
chr17:672175 A
A
 ATCTC
ATCTC
 11 a0001c0001t0031g0153
a0001c0001t0117g0230
a0001c0002t0077g0095
others(8): Show 
a0001c0001t0031g0153
a0001c0001t0117g0230
a0001c0002t0077g0095
a0001c0005t0080g0092
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0070g0112
a0002c0003t0085g0184
 11 HG01081.hp2
HG01175.hp2
HG01192.hp2
others(8): Show 
HG01081.hp2
HG01175.hp2
HG01192.hp2
HG01496.hp2
HG01928.hp2
HG01978.hp2
HG02300.hp2
HG03491.hp2
NA18955.hp2
NA19064.hp2
NA20129.hp2
 intron_variant MODIFIER c.286-10284_286-1028
others(8): Show 
c.286-10284_286-10281dupGAGA
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 672175
chr17:672175 A
A
 ATCTCTC
ATCTCTC
 4 a0001c0001t0084g0046
a0001c0002t0001g0082
a0001c0007t0011g0105
others(1): Show 
a0001c0001t0084g0046
a0001c0002t0001g0082
a0001c0007t0011g0105
a0001c0007t0011g0106
 4 HG01515.hp1
HG01517.hp2
HG02886.hp1
others(1): Show 
HG01515.hp1
HG01517.hp2
HG02886.hp1
HG03516.hp1
 intron_variant MODIFIER c.286-10286_286-1028
others(10): Show 
c.286-10286_286-10281dupGAGAGA
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 672175
chr17:672175 A
A
 ATCTCTCT
others(1): Show 
ATCTCTCTC
 12 a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0007g0058
others(9): Show 
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0058g0052
 12 HG01081.hp1
HG01361.hp1
HG01496.hp1
others(9): Show 
HG01081.hp1
HG01361.hp1
HG01496.hp1
HG02135.hp1
NA18944.hp1
NA18959.hp2
NA18962.hp2
NA18979.hp1
NA19007.hp1
NA19009.hp1
NA19065.hp1
NA19090.hp1
 intron_variant MODIFIER c.286-10288_286-1028
others(12): Show 
c.286-10288_286-10281dupGAGAGAGA
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 672175
chr17:672175 A
A
 ATCTCTCT
others(3): Show 
ATCTCTCTCTC
 7 a0001c0002t0005g0065
a0001c0002t0010g0087
a0001c0002t0014g0077
others(4): Show 
a0001c0002t0005g0065
a0001c0002t0010g0087
a0001c0002t0014g0077
a0001c0002t0075g0051
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0040g0002
 7 HG01981.hp2
HG03491.hp1
HG03492.hp1
others(4): Show 
HG01981.hp2
HG03491.hp1
HG03492.hp1
NA18948.hp2
NA18967.hp1
NA19070.hp1
NA19084.hp1
 intron_variant MODIFIER c.286-10290_286-1028
others(14): Show 
c.286-10290_286-10281dupGAGAGAGAGA
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 672175
chr17:672175 A
A
 ATCTCTCT
others(5): Show 
ATCTCTCTCTCTC
 22 a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0079
others(19): Show 
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0055g0084
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0076g0050
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0006t0041g0001
a0001c0006t0074g0097
a0002c0003t0073g0068
 22 HG00140.hp2
HG00280.hp1
HG00323.hp1
others(19): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp1
HG00621.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01099.hp2
HG01167.hp2
HG01168.hp1
HG01175.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp1
NA18906.hp2
NA18946.hp2
NA18960.hp1
NA18973.hp1
NA18977.hp2
NA19079.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.286-10292_286-1028
others(16): Show 
c.286-10292_286-10281dupGAGAGAGAGAGA
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 672175
chr17:672175 A
A
 ATCTCTCT
others(7): Show 
ATCTCTCTCTCTCTC
 3 a0001c0002t0022g0085
a0001c0002t0079g0086
a0001c0006t0057g0103
a0001c0002t0022g0085
a0001c0002t0079g0086
a0001c0006t0057g0103
 3 HG00280.hp2
HG01106.hp1
NA18940.hp1
HG00280.hp2
HG01106.hp1
NA18940.hp1
 intron_variant MODIFIER c.286-10294_286-1028
others(18): Show 
c.286-10294_286-10281dupGAGAGAGAGAGAGA
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 672175
chr17:672175 A
A
 ATCTCTCT
others(9): Show 
ATCTCTCTCTCTCTCTC
 4 a0001c0002t0001g0066
a0001c0002t0025g0075
a0001c0006t0039g0003
others(1): Show 
a0001c0002t0001g0066
a0001c0002t0025g0075
a0001c0006t0039g0003
a0001c0006t0068g0098
 4 HG01515.hp2
HG01978.hp1
HG04204.hp2
others(1): Show 
HG01515.hp2
HG01978.hp1
HG04204.hp2
NA18948.hp1
 intron_variant MODIFIER c.286-10296_286-1028
others(20): Show 
c.286-10296_286-10281dupGAGAGAGAGAGAGAGA
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 672175
chr17:672175 A
A
 ATCTCTCT
others(13): Show 
ATCTCTCTCTCTCTCTCTCTC
 2 a0001c0002t0001g0090
a0001c0006t0001g0113
a0001c0002t0001g0090
a0001c0006t0001g0113
 2 HG02738.hp1
HG03688.hp1
HG02738.hp1
HG03688.hp1
 intron_variant MODIFIER c.286-10300_286-1028
others(24): Show 
c.286-10300_286-10281dupGAGAGAGAGAGAGAGAGAGA
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 672175
chr17:672175 ATC
ATC
 A
A
 111 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0137
others(108): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0017g0158
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0034g0162
a0001c0001t0069g0012
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0094g0129
a0001c0001t0096g0146
a0001c0001t0097g0199
a0001c0001t0098g0147
a0001c0001t0105g0201
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0108g0148
a0001c0001t0110g0127
a0001c0001t0112g0157
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0118g0195
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0122g0160
a0001c0001t0123g0123
a0001c0001t0127g0159
a0001c0001t0128g0132
a0001c0001t0134g0154
a0001c0001t0138g0161
a0001c0001t0141g0165
a0001c0002t0035g0219
a0001c0002t0050g0049
a0001c0011t0051g0091
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0017g0179
a0002c0003t0018g0172
a0002c0003t0018g0231
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0089g0175
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0099g0192
a0002c0003t0104g0208
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0145g0187
a0002c0003t0146g0170
a0002c0003t0148g0174
a0002c0003t0150g0191
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
a0004c0008t0036g0207
a0006c0012t0129g0140
a0007c0013t0132g0163
 111 HG00323.hp2
HG00423.hp1
HG00423.hp2
others(108): Show 
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00741.hp1
HG01070.hp2
HG01071.hp1
HG01074.hp2
HG01099.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01192.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp2
HG01346.hp2
HG01361.hp2
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01928.hp1
HG01981.hp1
HG02040.hp1
HG02056.hp1
HG02056.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02300.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02723.hp2
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02922.hp2
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03492.hp2
HG03688.hp2
HG03831.hp1
HG03942.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
NA18906.hp1
NA18945.hp1
NA18945.hp2
NA18950.hp1
NA18950.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18967.hp2
NA18977.hp1
NA18978.hp1
NA18978.hp2
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18990.hp1
NA18994.hp1
NA19000.hp1
NA19009.hp2
NA19010.hp1
NA19011.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19065.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp2
NA19074.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19084.hp2
NA19090.hp2
NA19091.hp2
NA20129.hp1
NA20300.hp1
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.286-10282_286-1028
others(6): Show 
c.286-10282_286-10281delGA
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 672175
chr17:672175 ATCTC
ATCTC
 A
A
 15 a0001c0001t0016g0125
a0001c0002t0017g0225
a0001c0002t0038g0224
others(12): Show 
a0001c0001t0016g0125
a0001c0002t0017g0225
a0001c0002t0038g0224
a0001c0002t0086g0221
a0001c0002t0100g0223
a0001c0002t0109g0222
a0001c0002t0125g0116
a0001c0002t0143g0226
a0001c0002t0149g0202
a0001c0015t0126g0149
a0004c0008t0035g0203
a0004c0008t0103g0227
a0004c0008t0124g0229
a0004c0008t0133g0232
a0004c0008t0142g0228
 15 HG00099.hp1
HG00140.hp1
HG01346.hp1
others(12): Show 
HG00099.hp1
HG00140.hp1
HG01346.hp1
HG01516.hp1
HG02132.hp2
HG02145.hp1
HG02723.hp1
HG03942.hp2
HG04184.hp1
NA18944.hp2
NA18973.hp2
NA18990.hp2
NA19007.hp2
NA19011.hp1
NA19066.hp1
 intron_variant MODIFIER c.286-10284_286-1028
others(8): Show 
c.286-10284_286-10281delGAGA
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 672175
chr17:672175 ATCTCTC
ATCTCTC
 A
A
 22 a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0141
others(19): Show 
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0141
a0001c0001t0032g0114
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0002c0003t0018g0214
a0002c0003t0093g0173
a0002c0010t0038g0156
a0003c0004t0004g0025
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
 22 HG00621.hp1
HG01167.hp1
HG02040.hp2
others(19): Show 
HG00621.hp1
HG01167.hp1
HG02040.hp2
HG02083.hp2
HG02135.hp2
HG02572.hp2
HG02602.hp1
HG02895.hp1
HG03139.hp1
NA18612.hp2
NA18747.hp1
NA18946.hp1
NA18955.hp1
NA18960.hp2
NA18994.hp2
NA19000.hp2
NA19010.hp2
NA19066.hp2
NA19074.hp2
NA19087.hp1
NA19091.hp1
NA21309.hp1
 intron_variant MODIFIER c.286-10286_286-1028
others(10): Show 
c.286-10286_286-10281delGAGAGA
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 672175
chr17:672263 C
C
 T
T
 15 a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
others(12): Show 
a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0002t0078g0041
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0011t0051g0091
 15 HG01074.hp2
HG02135.hp2
HG02602.hp1
others(12): Show 
HG01074.hp2
HG02135.hp2
HG02602.hp1
HG03516.hp2
NA18747.hp1
NA18747.hp2
NA18955.hp2
NA18960.hp2
NA18984.hp2
NA18994.hp2
NA19000.hp2
NA19010.hp2
NA19064.hp2
NA19087.hp1
NA19091.hp1
 intron_variant MODIFIER c.286-10368G>A
c.286-10368G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 672263
chr17:672264 G
G
 A
A
 31 a0001c0006t0040g0002
a0003c0004t0003g0015
a0003c0004t0003g0018
others(28): Show 
a0001c0006t0040g0002
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
 31 HG01257.hp2
HG01516.hp2
HG01517.hp1
others(28): Show 
HG01257.hp2
HG01516.hp2
HG01517.hp1
HG01981.hp2
HG02074.hp1
HG02109.hp1
HG03831.hp2
NA18612.hp2
NA18906.hp1
NA18945.hp1
NA18950.hp2
NA18957.hp1
NA18959.hp1
NA18961.hp2
NA18962.hp1
NA18977.hp1
NA18978.hp1
NA18984.hp1
NA18986.hp2
NA18990.hp1
NA18994.hp1
NA19011.hp2
NA19060.hp1
NA19064.hp1
NA19068.hp1
NA19080.hp1
NA19081.hp1
NA19087.hp2
NA19091.hp2
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.286-10369C>T
c.286-10369C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 672264
chr17:672277 C
C
 T
T
 3 a0001c0002t0007g0058
a0001c0002t0048g0089
a0001c0002t0058g0052
a0001c0002t0007g0058
a0001c0002t0048g0089
a0001c0002t0058g0052
 3 NA18979.hp1
NA19007.hp1
NA19090.hp1
NA18979.hp1
NA19007.hp1
NA19090.hp1
 intron_variant MODIFIER c.286-10382G>A
c.286-10382G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 672277
chr17:672305 G
G
 A
A
 38 a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
others(35): Show 
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0017g0179
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0018g0231
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0085g0184
a0002c0003t0089g0175
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0099g0192
a0002c0003t0104g0208
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0145g0187
a0002c0003t0146g0170
a0002c0003t0148g0174
a0002c0003t0150g0191
a0004c0008t0036g0207
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
 38 HG00323.hp2
HG00423.hp1
HG00438.hp2
others(35): Show 
HG00323.hp2
HG00423.hp1
HG00438.hp2
HG00621.hp1
HG01070.hp2
HG01071.hp1
HG01099.hp1
HG01167.hp1
HG01928.hp1
HG01981.hp1
HG02040.hp1
HG02056.hp1
HG02074.hp2
HG02083.hp1
HG02129.hp1
HG02132.hp1
HG02293.hp1
HG02300.hp1
HG02738.hp2
HG03491.hp2
HG03831.hp1
HG03942.hp1
HG04199.hp1
NA18612.hp1
NA18946.hp1
NA18955.hp1
NA18957.hp2
NA18979.hp2
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA19000.hp1
NA19010.hp1
NA19066.hp2
NA19074.hp1
NA19080.hp2
NA19084.hp2
NA19090.hp2
 intron_variant MODIFIER c.286-10410C>T
c.286-10410C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 672305
chr17:672408 A
A
 G
G
 1 a0001c0001t0114g0142
a0001c0001t0114g0142
 1 HG02602.hp2
HG02602.hp2
 intron_variant MODIFIER c.286-10513T>C
c.286-10513T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 672408
chr17:672577 C
C
 T
T
 2 a0003c0004t0004g0019
a0003c0004t0004g0040
a0003c0004t0004g0019
a0003c0004t0004g0040
 2 HG02074.hp1
NA18984.hp1
HG02074.hp1
NA18984.hp1
 intron_variant MODIFIER c.286-10682G>A
c.286-10682G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 672577
chr17:672887 T
T
 C
C
 3 a0003c0004t0047g0017
a0003c0004t0056g0020
a0003c0004t0060g0039
a0003c0004t0047g0017
a0003c0004t0056g0020
a0003c0004t0060g0039
 3 HG03831.hp2
NA18994.hp1
NA19080.hp1
HG03831.hp2
NA18994.hp1
NA19080.hp1
 intron_variant MODIFIER c.286-10992A>G
c.286-10992A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 672887
chr17:673061 G
G
 A
A
 5 a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
others(2): Show 
a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0005t0080g0092
a0001c0011t0051g0091
 5 HG01074.hp2
NA18747.hp2
NA18955.hp2
others(2): Show 
HG01074.hp2
NA18747.hp2
NA18955.hp2
NA18984.hp2
NA19064.hp2
 intron_variant MODIFIER c.286-11166C>T
c.286-11166C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 673061
chr17:673107 G
G
 A
A
 1 a0001c0001t0032g0204
a0001c0001t0032g0204
 1 HG02922.hp1
HG02922.hp1
 intron_variant MODIFIER c.286-11212C>T
c.286-11212C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 673107
chr17:673111 C
C
 CA
CA
 39 a0001c0001t0002g0137
a0001c0002t0001g0066
a0001c0005t0019g0006
others(36): Show 
a0001c0001t0002g0137
a0001c0002t0001g0066
a0001c0005t0019g0006
a0001c0005t0020g0005
a0001c0006t0001g0113
a0001c0006t0040g0002
a0001c0007t0023g0109
a0002c0003t0037g0115
a0002c0003t0148g0174
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
 39 HG01192.hp2
HG01257.hp2
HG01516.hp2
others(36): Show 
HG01192.hp2
HG01257.hp2
HG01516.hp2
HG01517.hp1
HG01981.hp2
HG02074.hp1
HG02109.hp1
HG03688.hp1
HG03831.hp2
HG04204.hp2
NA18612.hp2
NA18906.hp1
NA18945.hp1
NA18950.hp2
NA18957.hp1
NA18959.hp1
NA18961.hp2
NA18962.hp1
NA18977.hp1
NA18978.hp1
NA18979.hp2
NA18984.hp1
NA18986.hp1
NA18986.hp2
NA18990.hp1
NA18994.hp1
NA19009.hp2
NA19010.hp2
NA19011.hp2
NA19060.hp1
NA19064.hp1
NA19068.hp1
NA19080.hp1
NA19081.hp1
NA19087.hp1
NA19087.hp2
NA19091.hp2
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.286-11217dupT
c.286-11217dupT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 673111
chr17:673116 A
A
 G
G
 5 a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
others(2): Show 
a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0005t0080g0092
a0001c0011t0051g0091
 5 HG01074.hp2
NA18747.hp2
NA18955.hp2
others(2): Show 
HG01074.hp2
NA18747.hp2
NA18955.hp2
NA18984.hp2
NA19064.hp2
 intron_variant MODIFIER c.286-11221T>C
c.286-11221T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 673116
chr17:673122 C
C
 A
A
 63 a0001c0001t0117g0230
a0001c0002t0001g0045
a0001c0002t0001g0056
others(60): Show 
a0001c0001t0117g0230
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0001c0016t0052g0099
a0002c0003t0073g0068
 63 HG00099.hp2
HG00140.hp2
HG00280.hp1
others(60): Show 
HG00099.hp2
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00621.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01106.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01361.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp2
HG01928.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp2
HG02135.hp1
HG02293.hp2
HG02300.hp2
HG02738.hp1
HG02886.hp1
HG03491.hp1
HG03492.hp1
HG03688.hp1
HG04204.hp2
NA18906.hp2
NA18940.hp1
NA18944.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18959.hp2
NA18960.hp1
NA18962.hp2
NA18967.hp1
NA18973.hp1
NA18977.hp2
NA18979.hp1
NA19007.hp1
NA19009.hp1
NA19065.hp1
NA19070.hp1
NA19079.hp1
NA19084.hp1
NA19090.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.286-11227G>T
c.286-11227G>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 673122
chr17:673250 A
A
 C
C
 1 a0001c0015t0126g0149
a0001c0015t0126g0149
 1 HG02723.hp1
HG02723.hp1
 intron_variant MODIFIER c.286-11355T>G
c.286-11355T>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 673250
chr17:673277 C
C
 A
A
 15 a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
others(12): Show 
a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0002t0078g0041
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0011t0051g0091
 15 HG01074.hp2
HG02135.hp2
HG02602.hp1
others(12): Show 
HG01074.hp2
HG02135.hp2
HG02602.hp1
HG03516.hp2
NA18747.hp1
NA18747.hp2
NA18955.hp2
NA18960.hp2
NA18984.hp2
NA18994.hp2
NA19000.hp2
NA19010.hp2
NA19064.hp2
NA19087.hp1
NA19091.hp1
 intron_variant MODIFIER c.286-11382G>T
c.286-11382G>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 673277
chr17:673320 A
A
 G
G
 1 a0001c0001t0016g0125
a0001c0001t0016g0125
 1 HG02132.hp2
HG02132.hp2
 intron_variant MODIFIER c.286-11425T>C
c.286-11425T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 673320
chr17:673347 A
A
 C
C
 1 a0001c0001t0015g0135
a0001c0001t0015g0135
 1 NA18961.hp1
NA18961.hp1
 intron_variant MODIFIER c.286-11452T>G
c.286-11452T>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 673347
chr17:673348 T
T
 C
C
 1 a0001c0001t0015g0135
a0001c0001t0015g0135
 1 NA18961.hp1
NA18961.hp1
 intron_variant MODIFIER c.286-11453A>G
c.286-11453A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 673348
chr17:673349 G
G
 T
T
 1 a0001c0001t0015g0135
a0001c0001t0015g0135
 1 NA18961.hp1
NA18961.hp1
 intron_variant MODIFIER c.286-11454C>A
c.286-11454C>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 673349
chr17:673350 G
G
 C
C
 1 a0001c0001t0015g0135
a0001c0001t0015g0135
 1 NA18961.hp1
NA18961.hp1
 intron_variant MODIFIER c.286-11455C>G
c.286-11455C>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 673350
chr17:673351 A
A
 C
C
 1 a0001c0001t0015g0135
a0001c0001t0015g0135
 1 NA18961.hp1
NA18961.hp1
 intron_variant MODIFIER c.286-11456T>G
c.286-11456T>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 673351
chr17:673354 C
C
 T
T
 2 a0001c0001t0015g0135
a0001c0007t0012g0110
a0001c0001t0015g0135
a0001c0007t0012g0110
 2 HG02300.hp2
NA18961.hp1
HG02300.hp2
NA18961.hp1
 intron_variant MODIFIER c.286-11459G>A
c.286-11459G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 673354
chr17:673355 G
G
 T
T
 1 a0001c0001t0015g0135
a0001c0001t0015g0135
 1 NA18961.hp1
NA18961.hp1
 intron_variant MODIFIER c.286-11460C>A
c.286-11460C>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 673355
chr17:673356 A
A
 T
T
 1 a0001c0001t0015g0135
a0001c0001t0015g0135
 1 NA18961.hp1
NA18961.hp1
 intron_variant MODIFIER c.286-11461T>A
c.286-11461T>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 673356
chr17:673357 G
G
 T
T
 1 a0001c0001t0015g0135
a0001c0001t0015g0135
 1 NA18961.hp1
NA18961.hp1
 intron_variant MODIFIER c.286-11462C>A
c.286-11462C>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 673357
chr17:673358 G
G
 A
A
 2 a0001c0001t0015g0135
a0003c0004t0060g0039
a0001c0001t0015g0135
a0003c0004t0060g0039
 2 HG03831.hp2
NA18961.hp1
HG03831.hp2
NA18961.hp1
 intron_variant MODIFIER c.286-11463C>T
c.286-11463C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 673358
chr17:673359 T
T
 C
C
 1 a0001c0001t0015g0135
a0001c0001t0015g0135
 1 NA18961.hp1
NA18961.hp1
 intron_variant MODIFIER c.286-11464A>G
c.286-11464A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 673359
chr17:673362 C
C
 T
T
 1 a0001c0001t0015g0135
a0001c0001t0015g0135
 1 NA18961.hp1
NA18961.hp1
 intron_variant MODIFIER c.286-11467G>A
c.286-11467G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 673362
chr17:673367 G
G
 C
C
 1 a0001c0001t0015g0135
a0001c0001t0015g0135
 1 NA18961.hp1
NA18961.hp1
 intron_variant MODIFIER c.286-11472C>G
c.286-11472C>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 673367
chr17:673369 T
T
 A
A
 1 a0001c0001t0015g0135
a0001c0001t0015g0135
 1 NA18961.hp1
NA18961.hp1
 intron_variant MODIFIER c.286-11474A>T
c.286-11474A>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 673369
chr17:673371 A
A
 C
C
 1 a0001c0001t0015g0135
a0001c0001t0015g0135
 1 NA18961.hp1
NA18961.hp1
 intron_variant MODIFIER c.286-11476T>G
c.286-11476T>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 673371
chr17:673374 C
C
 T
T
 1 a0001c0001t0015g0135
a0001c0001t0015g0135
 1 NA18961.hp1
NA18961.hp1
 intron_variant MODIFIER c.286-11479G>A
c.286-11479G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 673374
chr17:673375 A
A
 G
G
 1 a0001c0001t0015g0135
a0001c0001t0015g0135
 1 NA18961.hp1
NA18961.hp1
 intron_variant MODIFIER c.286-11480T>C
c.286-11480T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 673375
chr17:673376 G
G
 T
T
 1 a0001c0001t0015g0135
a0001c0001t0015g0135
 1 NA18961.hp1
NA18961.hp1
 intron_variant MODIFIER c.286-11481C>A
c.286-11481C>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 673376
chr17:673379 G
G
 A
A
 1 a0001c0001t0015g0135
a0001c0001t0015g0135
 1 NA18961.hp1
NA18961.hp1
 intron_variant MODIFIER c.286-11484C>T
c.286-11484C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 673379
chr17:673380 T
T
 G
G
 1 a0001c0001t0015g0135
a0001c0001t0015g0135
 1 NA18961.hp1
NA18961.hp1
 intron_variant MODIFIER c.286-11485A>C
c.286-11485A>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 673380
chr17:673382 C
C
 G
G
 1 a0001c0001t0015g0135
a0001c0001t0015g0135
 1 NA18961.hp1
NA18961.hp1
 intron_variant MODIFIER c.286-11487G>C
c.286-11487G>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 673382
chr17:673388 C
C
 T
T
 1 a0001c0001t0015g0135
a0001c0001t0015g0135
 1 NA18961.hp1
NA18961.hp1
 intron_variant MODIFIER c.286-11493G>A
c.286-11493G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 673388
chr17:673389 C
C
 T
T
 1 a0001c0001t0015g0135
a0001c0001t0015g0135
 1 NA18961.hp1
NA18961.hp1
 intron_variant MODIFIER c.286-11494G>A
c.286-11494G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 673389
chr17:673390 A
A
 T
T
 1 a0001c0001t0015g0135
a0001c0001t0015g0135
 1 NA18961.hp1
NA18961.hp1
 intron_variant MODIFIER c.286-11495T>A
c.286-11495T>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 673390
chr17:673391 G
G
 T
T
 1 a0001c0001t0015g0135
a0001c0001t0015g0135
 1 NA18961.hp1
NA18961.hp1
 intron_variant MODIFIER c.286-11496C>A
c.286-11496C>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 673391
chr17:673392 C
C
 T
T
 1 a0001c0001t0015g0135
a0001c0001t0015g0135
 1 NA18961.hp1
NA18961.hp1
 intron_variant MODIFIER c.286-11497G>A
c.286-11497G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 673392
chr17:673397 G
G
 T
T
 1 a0001c0001t0015g0135
a0001c0001t0015g0135
 1 NA18961.hp1
NA18961.hp1
 intron_variant MODIFIER c.286-11502C>A
c.286-11502C>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 673397
chr17:673401 T
T
 C
C
 1 a0001c0001t0015g0135
a0001c0001t0015g0135
 1 NA18961.hp1
NA18961.hp1
 intron_variant MODIFIER c.286-11506A>G
c.286-11506A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 673401
chr17:673402 G
G
 T
T
 1 a0001c0001t0015g0135
a0001c0001t0015g0135
 1 NA18961.hp1
NA18961.hp1
 intron_variant MODIFIER c.286-11507C>A
c.286-11507C>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 673402
chr17:673403 C
C
 A
A
 1 a0001c0001t0015g0135
a0001c0001t0015g0135
 1 NA18961.hp1
NA18961.hp1
 intron_variant MODIFIER c.286-11508G>T
c.286-11508G>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 673403
chr17:673500 A
A
 G
G
 15 a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
others(12): Show 
a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0002t0078g0041
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0011t0051g0091
 15 HG01074.hp2
HG02135.hp2
HG02602.hp1
others(12): Show 
HG01074.hp2
HG02135.hp2
HG02602.hp1
HG03516.hp2
NA18747.hp1
NA18747.hp2
NA18955.hp2
NA18960.hp2
NA18984.hp2
NA18994.hp2
NA19000.hp2
NA19010.hp2
NA19064.hp2
NA19087.hp1
NA19091.hp1
 intron_variant MODIFIER c.286-11605T>C
c.286-11605T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 673500
chr17:673601 C
C
 T
T
 1 a0001c0001t0118g0195
a0001c0001t0118g0195
 1 HG01346.hp2
HG01346.hp2
 intron_variant MODIFIER c.286-11706G>A
c.286-11706G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 673601
chr17:673701 A
A
 G
G
 63 a0001c0001t0117g0230
a0001c0002t0001g0045
a0001c0002t0001g0056
others(60): Show 
a0001c0001t0117g0230
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0001c0016t0052g0099
a0002c0003t0073g0068
 63 HG00099.hp2
HG00140.hp2
HG00280.hp1
others(60): Show 
HG00099.hp2
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00621.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01106.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01361.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp2
HG01928.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp2
HG02135.hp1
HG02293.hp2
HG02300.hp2
HG02738.hp1
HG02886.hp1
HG03491.hp1
HG03492.hp1
HG03688.hp1
HG04204.hp2
NA18906.hp2
NA18940.hp1
NA18944.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18959.hp2
NA18960.hp1
NA18962.hp2
NA18967.hp1
NA18973.hp1
NA18977.hp2
NA18979.hp1
NA19007.hp1
NA19009.hp1
NA19065.hp1
NA19070.hp1
NA19079.hp1
NA19084.hp1
NA19090.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.286-11806T>C
c.286-11806T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 673701
chr17:673919 A
A
 C
C
 30 a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
others(27): Show 
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
 30 HG01257.hp2
HG01516.hp2
HG01517.hp1
others(27): Show 
HG01257.hp2
HG01516.hp2
HG01517.hp1
HG02074.hp1
HG02109.hp1
HG03831.hp2
NA18612.hp2
NA18906.hp1
NA18945.hp1
NA18950.hp2
NA18957.hp1
NA18959.hp1
NA18961.hp2
NA18962.hp1
NA18977.hp1
NA18978.hp1
NA18984.hp1
NA18986.hp2
NA18990.hp1
NA18994.hp1
NA19011.hp2
NA19060.hp1
NA19064.hp1
NA19068.hp1
NA19080.hp1
NA19081.hp1
NA19087.hp2
NA19091.hp2
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.286-12024T>G
c.286-12024T>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 673919
chr17:673921 T
T
 C
C
 14 a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
others(11): Show 
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0097g0199
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0105g0201
a0001c0001t0118g0195
a0001c0001t0134g0154
 14 HG01109.hp2
HG01346.hp2
HG01884.hp1
others(11): Show 
HG01109.hp2
HG01346.hp2
HG01884.hp1
HG01891.hp2
HG02572.hp2
HG02622.hp1
HG02622.hp2
HG02723.hp2
HG02818.hp1
HG02922.hp2
HG03139.hp1
HG03139.hp2
NA20129.hp2
NA20300.hp1
 intron_variant MODIFIER c.286-12026A>G
c.286-12026A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 673921
chr17:674064 T
T
 C
C
 1 a0003c0004t0060g0039
a0003c0004t0060g0039
 1 HG03831.hp2
HG03831.hp2
 intron_variant MODIFIER c.286-12169A>G
c.286-12169A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 674064
chr17:674441 T
T
 C
C
 1 a0002c0010t0038g0156
a0002c0010t0038g0156
 1 NA21309.hp1
NA21309.hp1
 intron_variant MODIFIER c.286-12546A>G
c.286-12546A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 674441
chr17:674515 C
C
 T
T
 1 a0001c0002t0055g0084
a0001c0002t0055g0084
 1 NA18906.hp2
NA18906.hp2
 intron_variant MODIFIER c.286-12620G>A
c.286-12620G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 674515
chr17:674555 G
G
 A
A
 231 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(228): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0017g0158
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0032g0114
a0001c0001t0032g0204
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0034g0126
a0001c0001t0034g0162
a0001c0001t0069g0012
a0001c0001t0084g0046
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0097g0199
a0001c0001t0098g0147
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0105g0201
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0108g0148
a0001c0001t0110g0127
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0118g0195
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0122g0160
a0001c0001t0123g0123
a0001c0001t0127g0159
a0001c0001t0128g0132
a0001c0001t0134g0154
a0001c0001t0138g0161
a0001c0001t0141g0165
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0001g0094
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0017g0225
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0035g0219
a0001c0002t0038g0224
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0049g0048
a0001c0002t0050g0049
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0065g0093
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0077g0095
a0001c0002t0078g0041
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0002t0086g0221
a0001c0002t0100g0223
a0001c0002t0109g0222
a0001c0002t0125g0116
a0001c0002t0143g0226
a0001c0002t0149g0202
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0001c0011t0051g0091
a0001c0014t0135g0166
a0001c0015t0126g0149
a0001c0016t0052g0099
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0017g0179
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0018g0231
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0073g0068
a0002c0003t0085g0184
a0002c0003t0089g0175
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0099g0192
a0002c0003t0104g0208
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0145g0187
a0002c0003t0146g0170
a0002c0003t0148g0174
a0002c0003t0150g0191
a0002c0010t0038g0156
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
a0004c0008t0035g0203
a0004c0008t0036g0207
a0004c0008t0103g0227
a0004c0008t0124g0229
a0004c0008t0133g0232
a0004c0008t0142g0228
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
a0006c0012t0129g0140
a0007c0013t0132g0163
 231 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(228): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00621.hp1
HG00621.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02056.hp1
HG02056.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18955.hp1
NA18955.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18967.hp1
NA18967.hp2
NA18973.hp1
NA18973.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18990.hp1
NA18990.hp2
NA18994.hp1
NA18994.hp2
NA19000.hp1
NA19000.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19087.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.286-12660C>T
c.286-12660C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 674555
chr17:674564 G
G
 T
T
 1 a0001c0002t0078g0041
a0001c0002t0078g0041
 1 HG03516.hp2
HG03516.hp2
 intron_variant MODIFIER c.286-12669C>A
c.286-12669C>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 674564
chr17:674650 C
C
 T
T
 4 a0001c0001t0032g0114
a0001c0001t0095g0145
a0001c0001t0096g0146
others(1): Show 
a0001c0001t0032g0114
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0098g0147
 4 HG02818.hp2
HG02895.hp1
HG03225.hp2
others(1): Show 
HG02818.hp2
HG02895.hp1
HG03225.hp2
NA20300.hp2
 intron_variant MODIFIER c.286-12755G>A
c.286-12755G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 674650
chr17:674723 G
G
 A
A
 230 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(227): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0017g0158
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0032g0114
a0001c0001t0032g0204
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0034g0126
a0001c0001t0034g0162
a0001c0001t0069g0012
a0001c0001t0084g0046
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0097g0199
a0001c0001t0098g0147
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0105g0201
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0108g0148
a0001c0001t0110g0127
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0118g0195
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0122g0160
a0001c0001t0123g0123
a0001c0001t0127g0159
a0001c0001t0128g0132
a0001c0001t0134g0154
a0001c0001t0138g0161
a0001c0001t0141g0165
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0001g0094
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0017g0225
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0035g0219
a0001c0002t0038g0224
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0050g0049
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0065g0093
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0077g0095
a0001c0002t0078g0041
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0002t0086g0221
a0001c0002t0100g0223
a0001c0002t0109g0222
a0001c0002t0125g0116
a0001c0002t0143g0226
a0001c0002t0149g0202
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0001c0011t0051g0091
a0001c0014t0135g0166
a0001c0015t0126g0149
a0001c0016t0052g0099
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0017g0179
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0018g0231
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0073g0068
a0002c0003t0085g0184
a0002c0003t0089g0175
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0099g0192
a0002c0003t0104g0208
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0145g0187
a0002c0003t0146g0170
a0002c0003t0148g0174
a0002c0003t0150g0191
a0002c0010t0038g0156
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
a0004c0008t0035g0203
a0004c0008t0036g0207
a0004c0008t0103g0227
a0004c0008t0124g0229
a0004c0008t0133g0232
a0004c0008t0142g0228
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
a0006c0012t0129g0140
a0007c0013t0132g0163
 230 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(227): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00621.hp1
HG00621.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02056.hp1
HG02056.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18955.hp1
NA18955.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18967.hp1
NA18967.hp2
NA18973.hp1
NA18973.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18990.hp1
NA18990.hp2
NA18994.hp1
NA18994.hp2
NA19000.hp1
NA19000.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19087.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.286-12828C>T
c.286-12828C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 674723
chr17:674748 T
T
 G
G
 1 a0002c0003t0009g0185
a0002c0003t0009g0185
 1 HG01928.hp1
HG01928.hp1
 intron_variant MODIFIER c.286-12853A>C
c.286-12853A>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 674748
chr17:674774 A
A
 C
C
 10 a0001c0002t0078g0041
a0001c0005t0010g0008
a0001c0005t0019g0006
others(7): Show 
a0001c0002t0078g0041
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
 10 HG02135.hp2
HG02602.hp1
HG03516.hp2
others(7): Show 
HG02135.hp2
HG02602.hp1
HG03516.hp2
NA18747.hp1
NA18960.hp2
NA18994.hp2
NA19000.hp2
NA19010.hp2
NA19087.hp1
NA19091.hp1
 intron_variant MODIFIER c.286-12879T>G
c.286-12879T>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 674774
chr17:674940 T
T
 C
C
 78 a0001c0001t0117g0230
a0001c0002t0001g0045
a0001c0002t0001g0056
others(75): Show 
a0001c0001t0117g0230
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0001g0094
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0065g0093
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0077g0095
a0001c0002t0078g0041
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0001c0011t0051g0091
a0001c0016t0052g0099
a0002c0003t0073g0068
 78 HG00099.hp2
HG00140.hp2
HG00280.hp1
others(75): Show 
HG00099.hp2
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00621.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01106.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01361.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp2
HG01928.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp2
HG02135.hp1
HG02135.hp2
HG02293.hp2
HG02300.hp2
HG02602.hp1
HG02738.hp1
HG02886.hp1
HG03491.hp1
HG03492.hp1
HG03516.hp2
HG03688.hp1
HG04204.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp2
NA18940.hp1
NA18944.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18955.hp2
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18962.hp2
NA18967.hp1
NA18973.hp1
NA18977.hp2
NA18979.hp1
NA18984.hp2
NA18994.hp2
NA19000.hp2
NA19007.hp1
NA19009.hp1
NA19010.hp2
NA19064.hp2
NA19065.hp1
NA19070.hp1
NA19079.hp1
NA19084.hp1
NA19087.hp1
NA19090.hp1
NA19091.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.286-13045A>G
c.286-13045A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 674940
chr17:675174 C
C
 T
T
 2 a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0030g0119
a0001c0001t0030g0120
 2 HG01884.hp2
HG02280.hp2
HG01884.hp2
HG02280.hp2
 intron_variant MODIFIER c.286-13279G>A
c.286-13279G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 675174
chr17:675270 T
T
 C
C
 13 a0001c0002t0017g0225
a0001c0002t0035g0219
a0001c0002t0038g0224
others(10): Show 
a0001c0002t0017g0225
a0001c0002t0035g0219
a0001c0002t0038g0224
a0001c0002t0086g0221
a0001c0002t0100g0223
a0001c0002t0109g0222
a0001c0002t0143g0226
a0001c0002t0149g0202
a0004c0008t0035g0203
a0004c0008t0103g0227
a0004c0008t0124g0229
a0004c0008t0133g0232
a0004c0008t0142g0228
 13 HG00099.hp1
HG00140.hp1
HG00438.hp1
others(10): Show 
HG00099.hp1
HG00140.hp1
HG00438.hp1
HG01346.hp1
HG01516.hp1
HG02145.hp1
HG03942.hp2
HG04184.hp1
NA18944.hp2
NA18973.hp2
NA18990.hp2
NA19011.hp1
NA19066.hp1
 intron_variant MODIFIER c.286-13375A>G
c.286-13375A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 675270
chr17:675346 C
C
 T
T
 5 a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
others(2): Show 
a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0005t0080g0092
a0001c0011t0051g0091
 5 HG01074.hp2
NA18747.hp2
NA18955.hp2
others(2): Show 
HG01074.hp2
NA18747.hp2
NA18955.hp2
NA18984.hp2
NA19064.hp2
 intron_variant MODIFIER c.286-13451G>A
c.286-13451G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 675346
chr17:675347 G
G
 A
A
 4 a0001c0001t0032g0114
a0001c0001t0095g0145
a0001c0001t0096g0146
others(1): Show 
a0001c0001t0032g0114
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0098g0147
 4 HG02818.hp2
HG02895.hp1
HG03225.hp2
others(1): Show 
HG02818.hp2
HG02895.hp1
HG03225.hp2
NA20300.hp2
 intron_variant MODIFIER c.286-13452C>T
c.286-13452C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 675347
chr17:675398 A
A
 G
G
 1 a0001c0001t0084g0046
a0001c0001t0084g0046
 1 HG03516.hp1
HG03516.hp1
 intron_variant MODIFIER c.286-13503T>C
c.286-13503T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 675398
chr17:675441 C
C
 T
T
 42 a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
others(39): Show 
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0002c0003t0073g0068
 42 HG00140.hp2
HG00280.hp1
HG00323.hp1
others(39): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp1
HG00621.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01106.hp1
HG01167.hp2
HG01168.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01361.hp1
HG01496.hp1
HG01978.hp1
HG02135.hp1
HG02738.hp1
HG02886.hp1
HG04204.hp2
NA18906.hp2
NA18940.hp1
NA18944.hp1
NA18946.hp2
NA18948.hp2
NA18959.hp2
NA18960.hp1
NA18962.hp2
NA18967.hp1
NA18973.hp1
NA18977.hp2
NA18979.hp1
NA19007.hp1
NA19009.hp1
NA19065.hp1
NA19070.hp1
NA19079.hp1
NA19084.hp1
NA19090.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.286-13546G>A
c.286-13546G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 675441
chr17:675481 A
A
 G
G
 1 a0002c0003t0093g0173
a0002c0003t0093g0173
 1 HG01167.hp1
HG01167.hp1
 intron_variant MODIFIER c.286-13586T>C
c.286-13586T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 675481
chr17:675767 C
C
 CA
CA
 90 a0001c0001t0030g0120
a0001c0001t0087g0198
a0001c0001t0114g0142
others(87): Show 
a0001c0001t0030g0120
a0001c0001t0087g0198
a0001c0001t0114g0142
a0001c0001t0117g0230
a0001c0001t0123g0123
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0094
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0065
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0055g0084
a0001c0002t0065g0093
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0077g0095
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0002t0086g0221
a0001c0005t0080g0092
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0053g0102
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0011t0051g0091
a0001c0016t0052g0099
a0002c0003t0073g0068
a0002c0003t0091g0209
a0002c0003t0104g0208
a0002c0003t0144g0215
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
a0004c0008t0133g0232
a0005c0009t0147g0177
a0006c0012t0129g0140
 90 HG00099.hp2
HG00140.hp2
HG00280.hp1
others(87): Show 
HG00099.hp2
HG00140.hp2
HG00280.hp1
HG00323.hp1
HG00621.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01106.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01192.hp2
HG01255.hp1
HG01257.hp2
HG01361.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp2
HG01928.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp2
HG02074.hp1
HG02109.hp1
HG02145.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02602.hp2
HG02738.hp2
HG02818.hp1
HG02886.hp1
HG03491.hp1
HG03492.hp1
HG03688.hp1
HG03831.hp2
HG04204.hp2
NA18612.hp2
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18945.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp2
NA18955.hp2
NA18957.hp1
NA18959.hp1
NA18960.hp1
NA18962.hp1
NA18967.hp1
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18984.hp1
NA18984.hp2
NA18986.hp2
NA18987.hp1
NA18990.hp1
NA18994.hp1
NA19011.hp1
NA19011.hp2
NA19060.hp1
NA19064.hp1
NA19064.hp2
NA19066.hp2
NA19068.hp1
NA19079.hp1
NA19080.hp1
NA19081.hp1
NA19081.hp2
NA19087.hp2
NA19091.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.286-13873dupT
c.286-13873dupT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 675767
chr17:675767 C
C
 CAA
CAA
 7 a0001c0001t0002g0137
a0001c0001t0016g0124
a0001c0002t0001g0090
others(4): Show 
a0001c0001t0002g0137
a0001c0001t0016g0124
a0001c0002t0001g0090
a0001c0002t0078g0041
a0001c0006t0041g0001
a0001c0006t0057g0103
a0001c0007t0070g0112
 7 HG00280.hp2
HG01175.hp1
HG01175.hp2
others(4): Show 
HG00280.hp2
HG01175.hp1
HG01175.hp2
HG02738.hp1
HG03516.hp2
NA19009.hp2
NA19068.hp2
 intron_variant MODIFIER c.286-13874_286-1387
others(6): Show 
c.286-13874_286-13873dupTT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 675767
chr17:675767 C
C
 CAAA
CAAA
 8 a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
others(5): Show 
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
 8 HG02135.hp2
HG02602.hp1
NA18747.hp1
others(5): Show 
HG02135.hp2
HG02602.hp1
NA18747.hp1
NA18960.hp2
NA18994.hp2
NA19000.hp2
NA19010.hp2
NA19091.hp1
 intron_variant MODIFIER c.286-13875_286-1387
others(7): Show 
c.286-13875_286-13873dupTTT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 675767
chr17:675767 CAAAAAAA
CAAAAAAA
 C
C
 14 a0001c0002t0005g0061
a0001c0002t0007g0058
a0001c0002t0007g0062
others(11): Show 
a0001c0002t0005g0061
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0058g0052
a0001c0002t0075g0051
a0001c0002t0076g0050
 14 HG01256.hp1
HG01258.hp1
HG02135.hp1
others(11): Show 
HG01256.hp1
HG01258.hp1
HG02135.hp1
NA18944.hp1
NA18959.hp2
NA18962.hp2
NA18973.hp1
NA18979.hp1
NA19007.hp1
NA19009.hp1
NA19065.hp1
NA19070.hp1
NA19084.hp1
NA19090.hp1
 intron_variant MODIFIER c.286-13879_286-1387
others(11): Show 
c.286-13879_286-13873delTTTTTTT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 675767
chr17:676053 C
C
 T
T
 15 a0001c0001t0017g0158
a0001c0001t0032g0204
a0001c0001t0033g0205
others(12): Show 
a0001c0001t0017g0158
a0001c0001t0032g0204
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0034g0162
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0122g0160
a0001c0001t0127g0159
a0001c0001t0138g0161
a0001c0001t0141g0165
a0001c0014t0135g0166
a0001c0015t0126g0149
a0002c0010t0038g0156
a0007c0013t0132g0163
 15 HG00741.hp1
HG01106.hp2
HG01109.hp1
others(12): Show 
HG00741.hp1
HG01106.hp2
HG01109.hp1
HG01257.hp1
HG01258.hp2
HG01891.hp1
HG02572.hp1
HG02723.hp1
HG02886.hp2
HG02895.hp2
HG02922.hp1
HG03225.hp1
HG04204.hp1
NA20129.hp1
NA21309.hp1
 intron_variant MODIFIER c.286-14158G>A
c.286-14158G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 676053
chr17:676066 CA
CA
 C
C
 31 a0001c0001t0016g0124
a0003c0004t0003g0015
a0003c0004t0003g0018
others(28): Show 
a0001c0001t0016g0124
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
 31 HG01257.hp2
HG01516.hp2
HG01517.hp1
others(28): Show 
HG01257.hp2
HG01516.hp2
HG01517.hp1
HG02074.hp1
HG02109.hp1
HG03831.hp2
NA18612.hp2
NA18906.hp1
NA18945.hp1
NA18950.hp2
NA18957.hp1
NA18959.hp1
NA18961.hp2
NA18962.hp1
NA18977.hp1
NA18978.hp1
NA18984.hp1
NA18986.hp2
NA18990.hp1
NA18994.hp1
NA19011.hp2
NA19060.hp1
NA19064.hp1
NA19068.hp1
NA19068.hp2
NA19080.hp1
NA19081.hp1
NA19087.hp2
NA19091.hp2
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.286-14172delT
c.286-14172delT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 676066
chr17:676250 A
A
 C
C
 1 a0001c0001t0017g0158
a0001c0001t0017g0158
 1 HG00741.hp1
HG00741.hp1
 intron_variant MODIFIER c.286-14355T>G
c.286-14355T>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 676250
chr17:676301 A
A
 G
G
 1 a0001c0006t0068g0098
a0001c0006t0068g0098
 1 NA18948.hp1
NA18948.hp1
 intron_variant MODIFIER c.286-14406T>C
c.286-14406T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 676301
chr17:676392 G
G
 A
A
 13 a0001c0002t0017g0225
a0001c0002t0035g0219
a0001c0002t0038g0224
others(10): Show 
a0001c0002t0017g0225
a0001c0002t0035g0219
a0001c0002t0038g0224
a0001c0002t0086g0221
a0001c0002t0100g0223
a0001c0002t0109g0222
a0001c0002t0143g0226
a0001c0002t0149g0202
a0004c0008t0035g0203
a0004c0008t0103g0227
a0004c0008t0124g0229
a0004c0008t0133g0232
a0004c0008t0142g0228
 13 HG00099.hp1
HG00140.hp1
HG00438.hp1
others(10): Show 
HG00099.hp1
HG00140.hp1
HG00438.hp1
HG01346.hp1
HG01516.hp1
HG02145.hp1
HG03942.hp2
HG04184.hp1
NA18944.hp2
NA18973.hp2
NA18990.hp2
NA19011.hp1
NA19066.hp1
 intron_variant MODIFIER c.286-14497C>T
c.286-14497C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 676392
chr17:676489 G
G
 C
C
 21 a0001c0001t0117g0230
a0001c0006t0001g0113
a0001c0006t0021g0100
others(18): Show 
a0001c0001t0117g0230
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0001c0016t0052g0099
 21 HG00099.hp2
HG00280.hp2
HG01081.hp2
others(18): Show 
HG00099.hp2
HG00280.hp2
HG01081.hp2
HG01099.hp2
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp2
HG01928.hp2
HG01978.hp2
HG01981.hp2
HG02293.hp2
HG02300.hp2
HG03491.hp1
HG03492.hp1
HG03688.hp1
NA18948.hp1
 intron_variant MODIFIER c.286-14594C>G
c.286-14594C>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 676489
chr17:676536 C
C
 T
T
 230 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(227): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0017g0158
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0032g0114
a0001c0001t0032g0204
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0034g0126
a0001c0001t0034g0162
a0001c0001t0069g0012
a0001c0001t0084g0046
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0097g0199
a0001c0001t0098g0147
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0105g0201
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0108g0148
a0001c0001t0110g0127
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0118g0195
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0122g0160
a0001c0001t0123g0123
a0001c0001t0127g0159
a0001c0001t0128g0132
a0001c0001t0134g0154
a0001c0001t0138g0161
a0001c0001t0141g0165
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0001g0094
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0017g0225
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0035g0219
a0001c0002t0038g0224
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0050g0049
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0065g0093
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0077g0095
a0001c0002t0078g0041
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0002t0086g0221
a0001c0002t0100g0223
a0001c0002t0109g0222
a0001c0002t0125g0116
a0001c0002t0143g0226
a0001c0002t0149g0202
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0001c0011t0051g0091
a0001c0014t0135g0166
a0001c0015t0126g0149
a0001c0016t0052g0099
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0017g0179
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0018g0231
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0073g0068
a0002c0003t0085g0184
a0002c0003t0089g0175
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0099g0192
a0002c0003t0104g0208
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0145g0187
a0002c0003t0146g0170
a0002c0003t0148g0174
a0002c0003t0150g0191
a0002c0010t0038g0156
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
a0004c0008t0035g0203
a0004c0008t0036g0207
a0004c0008t0103g0227
a0004c0008t0124g0229
a0004c0008t0133g0232
a0004c0008t0142g0228
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
a0006c0012t0129g0140
a0007c0013t0132g0163
 230 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(227): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00621.hp1
HG00621.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02056.hp1
HG02056.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18955.hp1
NA18955.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18967.hp1
NA18967.hp2
NA18973.hp1
NA18973.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18990.hp1
NA18990.hp2
NA18994.hp1
NA18994.hp2
NA19000.hp1
NA19000.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19087.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.286-14641G>A
c.286-14641G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 676536
chr17:676598 T
T
 C
C
 1 a0002c0003t0018g0231
a0002c0003t0018g0231
 1 HG03942.hp1
HG03942.hp1
 intron_variant MODIFIER c.286-14703A>G
c.286-14703A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 676598
chr17:676608 T
T
 C
C
 15 a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
others(12): Show 
a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0002t0078g0041
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0011t0051g0091
 15 HG01074.hp2
HG02135.hp2
HG02602.hp1
others(12): Show 
HG01074.hp2
HG02135.hp2
HG02602.hp1
HG03516.hp2
NA18747.hp1
NA18747.hp2
NA18955.hp2
NA18960.hp2
NA18984.hp2
NA18994.hp2
NA19000.hp2
NA19010.hp2
NA19064.hp2
NA19087.hp1
NA19091.hp1
 intron_variant MODIFIER c.286-14713A>G
c.286-14713A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 676608
chr17:676763 C
C
 T
T
 1 a0002c0003t0139g0167
a0002c0003t0139g0167
 1 NA18983.hp1
NA18983.hp1
 intron_variant MODIFIER c.286-14868G>A
c.286-14868G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 676763
chr17:676845 G
G
 GT
GT
 43 a0001c0001t0002g0213
a0001c0001t0114g0142
a0001c0001t0118g0195
others(40): Show 
a0001c0001t0002g0213
a0001c0001t0114g0142
a0001c0001t0118g0195
a0001c0002t0125g0116
a0001c0005t0019g0006
a0001c0014t0135g0166
a0001c0015t0126g0149
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0017g0179
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0018g0231
a0002c0003t0027g0181
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0085g0184
a0002c0003t0089g0175
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0099g0192
a0002c0003t0104g0208
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0145g0187
a0002c0003t0146g0170
a0002c0003t0148g0174
a0002c0003t0150g0191
a0004c0008t0036g0207
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
 43 HG00323.hp2
HG00423.hp1
HG00438.hp2
others(40): Show 
HG00323.hp2
HG00423.hp1
HG00438.hp2
HG00621.hp1
HG01070.hp2
HG01071.hp1
HG01099.hp1
HG01167.hp1
HG01346.hp2
HG01928.hp1
HG01981.hp1
HG02040.hp1
HG02056.hp1
HG02074.hp2
HG02083.hp1
HG02129.hp1
HG02132.hp1
HG02293.hp1
HG02300.hp1
HG02572.hp1
HG02602.hp2
HG02723.hp1
HG03491.hp2
HG03688.hp2
HG03831.hp1
HG03942.hp1
HG04199.hp1
NA18612.hp1
NA18946.hp1
NA18955.hp1
NA18957.hp2
NA18979.hp2
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA19007.hp2
NA19010.hp1
NA19010.hp2
NA19066.hp2
NA19074.hp1
NA19080.hp2
NA19084.hp2
NA19090.hp2
 intron_variant MODIFIER c.286-14951dupA
c.286-14951dupA
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 676845
chr17:677239 G
G
 A
A
 231 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(228): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0017g0158
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0032g0114
a0001c0001t0032g0204
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0034g0126
a0001c0001t0034g0162
a0001c0001t0069g0012
a0001c0001t0084g0046
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0097g0199
a0001c0001t0098g0147
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0105g0201
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0108g0148
a0001c0001t0110g0127
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0118g0195
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0122g0160
a0001c0001t0123g0123
a0001c0001t0127g0159
a0001c0001t0128g0132
a0001c0001t0134g0154
a0001c0001t0138g0161
a0001c0001t0141g0165
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0001g0094
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0017g0225
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0035g0219
a0001c0002t0038g0224
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0049g0048
a0001c0002t0050g0049
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0065g0093
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0077g0095
a0001c0002t0078g0041
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0002t0086g0221
a0001c0002t0100g0223
a0001c0002t0109g0222
a0001c0002t0125g0116
a0001c0002t0143g0226
a0001c0002t0149g0202
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0001c0011t0051g0091
a0001c0014t0135g0166
a0001c0015t0126g0149
a0001c0016t0052g0099
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0017g0179
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0018g0231
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0073g0068
a0002c0003t0085g0184
a0002c0003t0089g0175
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0099g0192
a0002c0003t0104g0208
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0145g0187
a0002c0003t0146g0170
a0002c0003t0148g0174
a0002c0003t0150g0191
a0002c0010t0038g0156
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
a0004c0008t0035g0203
a0004c0008t0036g0207
a0004c0008t0103g0227
a0004c0008t0124g0229
a0004c0008t0133g0232
a0004c0008t0142g0228
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
a0006c0012t0129g0140
a0007c0013t0132g0163
 231 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(228): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00621.hp1
HG00621.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02056.hp1
HG02056.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18955.hp1
NA18955.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18967.hp1
NA18967.hp2
NA18973.hp1
NA18973.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18990.hp1
NA18990.hp2
NA18994.hp1
NA18994.hp2
NA19000.hp1
NA19000.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19087.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.286-15344C>T
c.286-15344C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 677239
chr17:677276 G
G
 C
C
 5 a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
others(2): Show 
a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0005t0080g0092
a0001c0011t0051g0091
 5 HG01074.hp2
NA18747.hp2
NA18955.hp2
others(2): Show 
HG01074.hp2
NA18747.hp2
NA18955.hp2
NA18984.hp2
NA19064.hp2
 intron_variant MODIFIER c.286-15381C>G
c.286-15381C>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 677276
chr17:677303 G
G
 A
A
 53 a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
others(50): Show 
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0016t0052g0099
a0002c0003t0073g0068
 53 HG00099.hp2
HG00140.hp2
HG00280.hp1
others(50): Show 
HG00099.hp2
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00621.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01099.hp2
HG01106.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01361.hp1
HG01496.hp1
HG01515.hp2
HG01978.hp1
HG01981.hp2
HG02135.hp1
HG02738.hp1
HG02886.hp1
HG03491.hp1
HG03492.hp1
HG03688.hp1
HG04204.hp2
NA18906.hp2
NA18940.hp1
NA18944.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18959.hp2
NA18960.hp1
NA18962.hp2
NA18967.hp1
NA18973.hp1
NA18977.hp2
NA18979.hp1
NA19007.hp1
NA19009.hp1
NA19065.hp1
NA19070.hp1
NA19079.hp1
NA19084.hp1
NA19090.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.286-15408C>T
c.286-15408C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 677303
chr17:677739 TA
TA
 T
T
 5 a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
others(2): Show 
a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0005t0080g0092
a0001c0011t0051g0091
 5 HG01074.hp2
NA18747.hp2
NA18955.hp2
others(2): Show 
HG01074.hp2
NA18747.hp2
NA18955.hp2
NA18984.hp2
NA19064.hp2
 intron_variant MODIFIER c.286-15845delT
c.286-15845delT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 677739
chr17:677742 A
A
 G
G
 5 a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
others(2): Show 
a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0005t0080g0092
a0001c0011t0051g0091
 5 HG01074.hp2
NA18747.hp2
NA18955.hp2
others(2): Show 
HG01074.hp2
NA18747.hp2
NA18955.hp2
NA18984.hp2
NA19064.hp2
 intron_variant MODIFIER c.286-15847T>C
c.286-15847T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 677742
chr17:677743 A
A
 G
G
 5 a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
others(2): Show 
a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0005t0080g0092
a0001c0011t0051g0091
 5 HG01074.hp2
NA18747.hp2
NA18955.hp2
others(2): Show 
HG01074.hp2
NA18747.hp2
NA18955.hp2
NA18984.hp2
NA19064.hp2
 intron_variant MODIFIER c.286-15848T>C
c.286-15848T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 677743
chr17:677954 C
C
 T
T
 52 a0001c0002t0017g0225
a0001c0002t0035g0219
a0001c0002t0038g0224
others(49): Show 
a0001c0002t0017g0225
a0001c0002t0035g0219
a0001c0002t0038g0224
a0001c0002t0086g0221
a0001c0002t0100g0223
a0001c0002t0109g0222
a0001c0002t0125g0116
a0001c0002t0143g0226
a0001c0002t0149g0202
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0017g0179
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0018g0231
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0085g0184
a0002c0003t0089g0175
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0099g0192
a0002c0003t0104g0208
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0145g0187
a0002c0003t0146g0170
a0002c0003t0148g0174
a0002c0003t0150g0191
a0004c0008t0035g0203
a0004c0008t0036g0207
a0004c0008t0103g0227
a0004c0008t0124g0229
a0004c0008t0133g0232
a0004c0008t0142g0228
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
 52 HG00099.hp1
HG00140.hp1
HG00323.hp2
others(49): Show 
HG00099.hp1
HG00140.hp1
HG00323.hp2
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00621.hp1
HG01070.hp2
HG01071.hp1
HG01099.hp1
HG01167.hp1
HG01346.hp1
HG01516.hp1
HG01928.hp1
HG01981.hp1
HG02040.hp1
HG02056.hp1
HG02074.hp2
HG02083.hp1
HG02129.hp1
HG02132.hp1
HG02145.hp1
HG02293.hp1
HG02300.hp1
HG02738.hp2
HG03491.hp2
HG03831.hp1
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04199.hp1
NA18612.hp1
NA18944.hp2
NA18946.hp1
NA18955.hp1
NA18957.hp2
NA18973.hp2
NA18979.hp2
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA18990.hp2
NA19000.hp1
NA19007.hp2
NA19010.hp1
NA19011.hp1
NA19066.hp1
NA19066.hp2
NA19074.hp1
NA19080.hp2
NA19084.hp2
NA19090.hp2
 intron_variant MODIFIER c.286-16059G>A
c.286-16059G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 677954
chr17:678180 T
T
 C
C
 9 a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
others(6): Show 
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
 9 HG02135.hp2
HG02602.hp1
NA18747.hp1
others(6): Show 
HG02135.hp2
HG02602.hp1
NA18747.hp1
NA18960.hp2
NA18994.hp2
NA19000.hp2
NA19010.hp2
NA19087.hp1
NA19091.hp1
 intron_variant MODIFIER c.286-16285A>G
c.286-16285A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 678180
chr17:678648 A
A
 T
T
 3 a0001c0002t0083g0067
a0003c0004t0047g0017
a0003c0004t0056g0020
a0001c0002t0083g0067
a0003c0004t0047g0017
a0003c0004t0056g0020
 3 HG00621.hp2
NA18994.hp1
NA19080.hp1
HG00621.hp2
NA18994.hp1
NA19080.hp1
 intron_variant MODIFIER c.286-16753T>A
c.286-16753T>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 678648
chr17:678650 A
A
 ATT
ATT
 6 a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
others(3): Show 
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0059g0029
a0003c0004t0061g0031
a0003c0004t0063g0034
 6 NA18945.hp1
NA18978.hp1
NA19060.hp1
others(3): Show 
NA18945.hp1
NA18978.hp1
NA19060.hp1
NA19064.hp1
NA19081.hp1
NA19091.hp2
 intron_variant MODIFIER c.286-16757_286-1675
others(6): Show 
c.286-16757_286-16756dupAA
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 678650
chr17:678650 A
A
 T
T
 87 a0001c0001t0017g0158
a0001c0001t0032g0204
a0001c0001t0033g0205
others(84): Show 
a0001c0001t0017g0158
a0001c0001t0032g0204
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0034g0162
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0120g0211
a0001c0001t0122g0160
a0001c0001t0127g0159
a0001c0001t0138g0161
a0001c0001t0141g0165
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0058g0052
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0002c0003t0073g0068
a0002c0010t0038g0156
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0060g0039
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
a0007c0013t0132g0163
 87 HG00140.hp2
HG00280.hp1
HG00323.hp1
others(84): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp1
HG00621.hp2
HG00741.hp1
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01167.hp2
HG01168.hp1
HG01255.hp1
HG01256.hp1
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01361.hp1
HG01496.hp1
HG01516.hp2
HG01517.hp1
HG01891.hp1
HG01978.hp1
HG02074.hp1
HG02109.hp1
HG02135.hp1
HG02135.hp2
HG02602.hp1
HG02738.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02922.hp1
HG03225.hp1
HG03831.hp2
HG04184.hp2
HG04204.hp1
HG04204.hp2
NA18612.hp2
NA18747.hp1
NA18906.hp1
NA18940.hp1
NA18944.hp1
NA18946.hp2
NA18948.hp2
NA18950.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18967.hp1
NA18973.hp1
NA18977.hp1
NA18977.hp2
NA18979.hp1
NA18984.hp1
NA18986.hp2
NA18990.hp1
NA18994.hp1
NA18994.hp2
NA19000.hp2
NA19007.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp2
NA19065.hp1
NA19068.hp1
NA19070.hp1
NA19079.hp1
NA19080.hp1
NA19084.hp1
NA19087.hp1
NA19087.hp2
NA19090.hp1
NA19091.hp1
NA20129.hp1
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.286-16755T>A
c.286-16755T>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 678650
chr17:678652 T
T
 A
A
 55 a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0134g0154
others(52): Show 
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0134g0154
a0001c0002t0017g0225
a0001c0002t0035g0219
a0001c0002t0038g0224
a0001c0002t0086g0221
a0001c0002t0100g0223
a0001c0002t0109g0222
a0001c0002t0125g0116
a0001c0002t0143g0226
a0001c0002t0149g0202
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0017g0179
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0018g0231
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0085g0184
a0002c0003t0089g0175
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0099g0192
a0002c0003t0104g0208
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0145g0187
a0002c0003t0146g0170
a0002c0003t0148g0174
a0002c0003t0150g0191
a0004c0008t0035g0203
a0004c0008t0036g0207
a0004c0008t0103g0227
a0004c0008t0124g0229
a0004c0008t0133g0232
a0004c0008t0142g0228
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
 55 HG00099.hp1
HG00140.hp1
HG00323.hp2
others(52): Show 
HG00099.hp1
HG00140.hp1
HG00323.hp2
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00621.hp1
HG01070.hp2
HG01071.hp1
HG01099.hp1
HG01167.hp1
HG01346.hp1
HG01516.hp1
HG01891.hp2
HG01928.hp1
HG01981.hp1
HG02040.hp1
HG02056.hp1
HG02074.hp2
HG02083.hp1
HG02129.hp1
HG02132.hp1
HG02145.hp1
HG02293.hp1
HG02300.hp1
HG02738.hp2
HG03491.hp2
HG03831.hp1
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04199.hp1
NA18612.hp1
NA18944.hp2
NA18946.hp1
NA18955.hp1
NA18957.hp2
NA18973.hp2
NA18979.hp2
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA18990.hp2
NA19000.hp1
NA19007.hp2
NA19010.hp1
NA19011.hp1
NA19066.hp1
NA19066.hp2
NA19074.hp1
NA19080.hp2
NA19084.hp2
NA19090.hp2
NA20129.hp2
NA20300.hp1
 intron_variant MODIFIER c.286-16757A>T
c.286-16757A>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 678652
chr17:678727 C
C
 T
T
 63 a0001c0001t0117g0230
a0001c0002t0001g0045
a0001c0002t0001g0056
others(60): Show 
a0001c0001t0117g0230
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0001c0016t0052g0099
a0002c0003t0073g0068
 63 HG00099.hp2
HG00140.hp2
HG00280.hp1
others(60): Show 
HG00099.hp2
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00621.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01106.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01361.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp2
HG01928.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp2
HG02135.hp1
HG02293.hp2
HG02300.hp2
HG02738.hp1
HG02886.hp1
HG03491.hp1
HG03492.hp1
HG03688.hp1
HG04204.hp2
NA18906.hp2
NA18940.hp1
NA18944.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18959.hp2
NA18960.hp1
NA18962.hp2
NA18967.hp1
NA18973.hp1
NA18977.hp2
NA18979.hp1
NA19007.hp1
NA19009.hp1
NA19065.hp1
NA19070.hp1
NA19079.hp1
NA19084.hp1
NA19090.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.286-16832G>A
c.286-16832G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 678727
chr17:678792 T
T
 C
C
 15 a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
others(12): Show 
a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0002t0078g0041
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0011t0051g0091
 15 HG01074.hp2
HG02135.hp2
HG02602.hp1
others(12): Show 
HG01074.hp2
HG02135.hp2
HG02602.hp1
HG03516.hp2
NA18747.hp1
NA18747.hp2
NA18955.hp2
NA18960.hp2
NA18984.hp2
NA18994.hp2
NA19000.hp2
NA19010.hp2
NA19064.hp2
NA19087.hp1
NA19091.hp1
 intron_variant MODIFIER c.286-16897A>G
c.286-16897A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 678792
chr17:678795 C
C
 T
T
 15 a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
others(12): Show 
a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0002t0078g0041
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0011t0051g0091
 15 HG01074.hp2
HG02135.hp2
HG02602.hp1
others(12): Show 
HG01074.hp2
HG02135.hp2
HG02602.hp1
HG03516.hp2
NA18747.hp1
NA18747.hp2
NA18955.hp2
NA18960.hp2
NA18984.hp2
NA18994.hp2
NA19000.hp2
NA19010.hp2
NA19064.hp2
NA19087.hp1
NA19091.hp1
 intron_variant MODIFIER c.286-16900G>A
c.286-16900G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 678795
chr17:678931 GC
GC
 G
G
 231 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(228): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0017g0158
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0032g0114
a0001c0001t0032g0204
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0034g0126
a0001c0001t0034g0162
a0001c0001t0069g0012
a0001c0001t0084g0046
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0097g0199
a0001c0001t0098g0147
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0105g0201
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0108g0148
a0001c0001t0110g0127
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0118g0195
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0122g0160
a0001c0001t0123g0123
a0001c0001t0127g0159
a0001c0001t0128g0132
a0001c0001t0134g0154
a0001c0001t0138g0161
a0001c0001t0141g0165
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0001g0094
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0017g0225
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0035g0219
a0001c0002t0038g0224
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0049g0048
a0001c0002t0050g0049
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0065g0093
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0077g0095
a0001c0002t0078g0041
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0002t0086g0221
a0001c0002t0100g0223
a0001c0002t0109g0222
a0001c0002t0125g0116
a0001c0002t0143g0226
a0001c0002t0149g0202
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0001c0011t0051g0091
a0001c0014t0135g0166
a0001c0015t0126g0149
a0001c0016t0052g0099
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0017g0179
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0018g0231
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0073g0068
a0002c0003t0085g0184
a0002c0003t0089g0175
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0099g0192
a0002c0003t0104g0208
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0145g0187
a0002c0003t0146g0170
a0002c0003t0148g0174
a0002c0003t0150g0191
a0002c0010t0038g0156
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
a0004c0008t0035g0203
a0004c0008t0036g0207
a0004c0008t0103g0227
a0004c0008t0124g0229
a0004c0008t0133g0232
a0004c0008t0142g0228
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
a0006c0012t0129g0140
a0007c0013t0132g0163
 231 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(228): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00621.hp1
HG00621.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02056.hp1
HG02056.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18955.hp1
NA18955.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18967.hp1
NA18967.hp2
NA18973.hp1
NA18973.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18990.hp1
NA18990.hp2
NA18994.hp1
NA18994.hp2
NA19000.hp1
NA19000.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19087.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.286-17037delG
c.286-17037delG
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 678931
chr17:679194 T
T
 C
C
 1 a0002c0003t0146g0170
a0002c0003t0146g0170
 1 NA19090.hp2
NA19090.hp2
 intron_variant MODIFIER c.286-17299A>G
c.286-17299A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 679194
chr17:679279 G
G
 A
A
 9 a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
others(6): Show 
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
 9 HG02135.hp2
HG02602.hp1
NA18747.hp1
others(6): Show 
HG02135.hp2
HG02602.hp1
NA18747.hp1
NA18960.hp2
NA18994.hp2
NA19000.hp2
NA19010.hp2
NA19087.hp1
NA19091.hp1
 intron_variant MODIFIER c.286-17384C>T
c.286-17384C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 679279
chr17:679287 G
G
 A
A
 1 a0003c0004t0004g0026
a0003c0004t0004g0026
 1 NA18990.hp1
NA18990.hp1
 intron_variant MODIFIER c.286-17392C>T
c.286-17392C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 679287
chr17:679332 G
G
 A
A
 5 a0002c0003t0008g0180
a0002c0003t0008g0183
a0002c0003t0008g0217
others(2): Show 
a0002c0003t0008g0180
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0091g0209
a0002c0003t0150g0191
 5 HG01099.hp1
HG01981.hp1
HG02293.hp1
others(2): Show 
HG01099.hp1
HG01981.hp1
HG02293.hp1
HG02300.hp1
NA19010.hp1
 intron_variant MODIFIER c.286-17437C>T
c.286-17437C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 679332
chr17:679592 T
T
 C
C
 15 a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
others(12): Show 
a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0002t0078g0041
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0011t0051g0091
 15 HG01074.hp2
HG02135.hp2
HG02602.hp1
others(12): Show 
HG01074.hp2
HG02135.hp2
HG02602.hp1
HG03516.hp2
NA18747.hp1
NA18747.hp2
NA18955.hp2
NA18960.hp2
NA18984.hp2
NA18994.hp2
NA19000.hp2
NA19010.hp2
NA19064.hp2
NA19087.hp1
NA19091.hp1
 intron_variant MODIFIER c.286-17697A>G
c.286-17697A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 679592
chr17:679696 A
A
 G
G
 15 a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
others(12): Show 
a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0002t0078g0041
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0011t0051g0091
 15 HG01074.hp2
HG02135.hp2
HG02602.hp1
others(12): Show 
HG01074.hp2
HG02135.hp2
HG02602.hp1
HG03516.hp2
NA18747.hp1
NA18747.hp2
NA18955.hp2
NA18960.hp2
NA18984.hp2
NA18994.hp2
NA19000.hp2
NA19010.hp2
NA19064.hp2
NA19087.hp1
NA19091.hp1
 intron_variant MODIFIER c.285+17722T>C
c.285+17722T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 679696
chr17:679750 G
G
 C
C
 1 a0001c0002t0050g0049
a0001c0002t0050g0049
 1 HG02280.hp1
HG02280.hp1
 intron_variant MODIFIER c.285+17668C>G
c.285+17668C>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 679750
chr17:679908 G
G
 A
A
 1 a0001c0001t0115g0136
a0001c0001t0115g0136
 1 HG03492.hp2
HG03492.hp2
 intron_variant MODIFIER c.285+17510C>T
c.285+17510C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 679908
chr17:680036 G
G
 A
A
 2 a0001c0001t0111g0164
a0001c0001t0127g0159
a0001c0001t0111g0164
a0001c0001t0127g0159
 2 HG01891.hp1
HG02895.hp2
HG01891.hp1
HG02895.hp2
 intron_variant MODIFIER c.285+17382C>T
c.285+17382C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 680036
chr17:680166 C
C
 T
T
 2 a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0020g0005
a0001c0005t0020g0010
 2 NA19087.hp1
NA19091.hp1
NA19087.hp1
NA19091.hp1
 intron_variant MODIFIER c.285+17252G>A
c.285+17252G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 680166
chr17:680188 G
G
 T
T
 1 a0001c0005t0019g0007
a0001c0005t0019g0007
 1 HG02602.hp1
HG02602.hp1
 intron_variant MODIFIER c.285+17230C>A
c.285+17230C>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 680188
chr17:680413 T
T
 C
C
 9 a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
others(6): Show 
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
 9 HG02135.hp2
HG02602.hp1
NA18747.hp1
others(6): Show 
HG02135.hp2
HG02602.hp1
NA18747.hp1
NA18960.hp2
NA18994.hp2
NA19000.hp2
NA19010.hp2
NA19087.hp1
NA19091.hp1
 intron_variant MODIFIER c.285+17005A>G
c.285+17005A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 680413
chr17:680560 T
T
 C
C
 1 a0001c0001t0108g0148
a0001c0001t0108g0148
 1 HG01192.hp1
HG01192.hp1
 intron_variant MODIFIER c.285+16858A>G
c.285+16858A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 680560
chr17:680630 T
T
 A
A
 30 a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
others(27): Show 
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
 30 HG01257.hp2
HG01516.hp2
HG01517.hp1
others(27): Show 
HG01257.hp2
HG01516.hp2
HG01517.hp1
HG02074.hp1
HG02109.hp1
HG03831.hp2
NA18612.hp2
NA18906.hp1
NA18945.hp1
NA18950.hp2
NA18957.hp1
NA18959.hp1
NA18961.hp2
NA18962.hp1
NA18977.hp1
NA18978.hp1
NA18984.hp1
NA18986.hp2
NA18990.hp1
NA18994.hp1
NA19011.hp2
NA19060.hp1
NA19064.hp1
NA19068.hp1
NA19080.hp1
NA19081.hp1
NA19087.hp2
NA19091.hp2
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.285+16788A>T
c.285+16788A>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 680630
chr17:680636 C
C
 T
T
 8 a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
others(5): Show 
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0097g0199
a0001c0001t0105g0201
 8 HG01109.hp2
HG01884.hp1
HG02622.hp1
others(5): Show 
HG01109.hp2
HG01884.hp1
HG02622.hp1
HG02622.hp2
HG02723.hp2
HG02818.hp1
HG02922.hp2
HG03139.hp2
 intron_variant MODIFIER c.285+16782G>A
c.285+16782G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 680636
chr17:680745 G
G
 A
A
 1 a0001c0002t0043g0064
a0001c0002t0043g0064
 1 NA18944.hp1
NA18944.hp1
 intron_variant MODIFIER c.285+16673C>T
c.285+16673C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 680745
chr17:680854 C
C
 T
T
 1 a0001c0002t0005g0065
a0001c0002t0005g0065
 1 NA18948.hp2
NA18948.hp2
 intron_variant MODIFIER c.285+16564G>A
c.285+16564G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 680854
chr17:680878 G
G
 C
C
 5 a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
others(2): Show 
a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0005t0080g0092
a0001c0011t0051g0091
 5 HG01074.hp2
NA18747.hp2
NA18955.hp2
others(2): Show 
HG01074.hp2
NA18747.hp2
NA18955.hp2
NA18984.hp2
NA19064.hp2
 intron_variant MODIFIER c.285+16540C>G
c.285+16540C>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 680878
chr17:680879 C
C
 T
T
 1 a0001c0001t0118g0195
a0001c0001t0118g0195
 1 HG01346.hp2
HG01346.hp2
 intron_variant MODIFIER c.285+16539G>A
c.285+16539G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 680879
chr17:681033 A
A
 G
G
 1 a0001c0002t0078g0041
a0001c0002t0078g0041
 1 HG03516.hp2
HG03516.hp2
 intron_variant MODIFIER c.285+16385T>C
c.285+16385T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 681033
chr17:681098 T
T
 C
C
 10 a0001c0002t0078g0041
a0001c0005t0010g0008
a0001c0005t0019g0006
others(7): Show 
a0001c0002t0078g0041
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
 10 HG02135.hp2
HG02602.hp1
HG03516.hp2
others(7): Show 
HG02135.hp2
HG02602.hp1
HG03516.hp2
NA18747.hp1
NA18960.hp2
NA18994.hp2
NA19000.hp2
NA19010.hp2
NA19087.hp1
NA19091.hp1
 intron_variant MODIFIER c.285+16320A>G
c.285+16320A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 681098
chr17:681213 C
C
 T
T
 15 a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
others(12): Show 
a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0002t0078g0041
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0011t0051g0091
 15 HG01074.hp2
HG02135.hp2
HG02602.hp1
others(12): Show 
HG01074.hp2
HG02135.hp2
HG02602.hp1
HG03516.hp2
NA18747.hp1
NA18747.hp2
NA18955.hp2
NA18960.hp2
NA18984.hp2
NA18994.hp2
NA19000.hp2
NA19010.hp2
NA19064.hp2
NA19087.hp1
NA19091.hp1
 intron_variant MODIFIER c.285+16205G>A
c.285+16205G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 681213
chr17:681328 G
G
 A
A
 1 a0001c0005t0010g0008
a0001c0005t0010g0008
 1 NA18747.hp1
NA18747.hp1
 intron_variant MODIFIER c.285+16090C>T
c.285+16090C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 681328
chr17:681415 G
G
 A
A
 1 a0001c0001t0084g0046
a0001c0001t0084g0046
 1 HG03516.hp1
HG03516.hp1
 intron_variant MODIFIER c.285+16003C>T
c.285+16003C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 681415
chr17:681577 T
T
 C
C
 1 a0001c0001t0011g0013
a0001c0001t0011g0013
 1 HG01361.hp2
HG01361.hp2
 intron_variant MODIFIER c.285+15841A>G
c.285+15841A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 681577
chr17:681759 A
A
 G
G
 15 a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
others(12): Show 
a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0002t0078g0041
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0011t0051g0091
 15 HG01074.hp2
HG02135.hp2
HG02602.hp1
others(12): Show 
HG01074.hp2
HG02135.hp2
HG02602.hp1
HG03516.hp2
NA18747.hp1
NA18747.hp2
NA18955.hp2
NA18960.hp2
NA18984.hp2
NA18994.hp2
NA19000.hp2
NA19010.hp2
NA19064.hp2
NA19087.hp1
NA19091.hp1
 intron_variant MODIFIER c.285+15659T>C
c.285+15659T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 681759
chr17:681930 T
T
 C
C
 230 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(227): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0017g0158
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0032g0114
a0001c0001t0032g0204
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0034g0126
a0001c0001t0034g0162
a0001c0001t0069g0012
a0001c0001t0084g0046
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0097g0199
a0001c0001t0098g0147
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0105g0201
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0108g0148
a0001c0001t0110g0127
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0118g0195
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0122g0160
a0001c0001t0123g0123
a0001c0001t0127g0159
a0001c0001t0128g0132
a0001c0001t0134g0154
a0001c0001t0138g0161
a0001c0001t0141g0165
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0001g0094
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0017g0225
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0035g0219
a0001c0002t0038g0224
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0050g0049
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0065g0093
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0077g0095
a0001c0002t0078g0041
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0002t0086g0221
a0001c0002t0100g0223
a0001c0002t0109g0222
a0001c0002t0125g0116
a0001c0002t0143g0226
a0001c0002t0149g0202
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0001c0011t0051g0091
a0001c0014t0135g0166
a0001c0015t0126g0149
a0001c0016t0052g0099
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0017g0179
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0018g0231
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0073g0068
a0002c0003t0085g0184
a0002c0003t0089g0175
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0099g0192
a0002c0003t0104g0208
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0145g0187
a0002c0003t0146g0170
a0002c0003t0148g0174
a0002c0003t0150g0191
a0002c0010t0038g0156
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
a0004c0008t0035g0203
a0004c0008t0036g0207
a0004c0008t0103g0227
a0004c0008t0124g0229
a0004c0008t0133g0232
a0004c0008t0142g0228
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
a0006c0012t0129g0140
a0007c0013t0132g0163
 230 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(227): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00621.hp1
HG00621.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02056.hp1
HG02056.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18955.hp1
NA18955.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18967.hp1
NA18967.hp2
NA18973.hp1
NA18973.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18990.hp1
NA18990.hp2
NA18994.hp1
NA18994.hp2
NA19000.hp1
NA19000.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19087.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.285+15488A>G
c.285+15488A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 681930
chr17:681973 G
G
 A
A
 1 a0001c0006t0001g0113
a0001c0006t0001g0113
 1 HG03688.hp1
HG03688.hp1
 intron_variant MODIFIER c.285+15445C>T
c.285+15445C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 681973
chr17:682121 C
C
 G
G
 1 a0001c0001t0108g0148
a0001c0001t0108g0148
 1 HG01192.hp1
HG01192.hp1
 intron_variant MODIFIER c.285+15297G>C
c.285+15297G>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 682121
chr17:682235 T
T
 G
G
 30 a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
others(27): Show 
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
 30 HG01257.hp2
HG01516.hp2
HG01517.hp1
others(27): Show 
HG01257.hp2
HG01516.hp2
HG01517.hp1
HG02074.hp1
HG02109.hp1
HG03831.hp2
NA18612.hp2
NA18906.hp1
NA18945.hp1
NA18950.hp2
NA18957.hp1
NA18959.hp1
NA18961.hp2
NA18962.hp1
NA18977.hp1
NA18978.hp1
NA18984.hp1
NA18986.hp2
NA18990.hp1
NA18994.hp1
NA19011.hp2
NA19060.hp1
NA19064.hp1
NA19068.hp1
NA19080.hp1
NA19081.hp1
NA19087.hp2
NA19091.hp2
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.285+15183A>C
c.285+15183A>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 682235
chr17:682500 G
G
 A
A
 1 a0001c0001t0119g0144
a0001c0001t0119g0144
 1 NA18987.hp2
NA18987.hp2
 intron_variant MODIFIER c.285+14918C>T
c.285+14918C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 682500
chr17:682510 C
C
 T
T
 3 a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0106g0117
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0106g0117
 3 HG01884.hp2
HG02109.hp2
HG02280.hp2
HG01884.hp2
HG02109.hp2
HG02280.hp2
 intron_variant MODIFIER c.285+14908G>A
c.285+14908G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 682510
chr17:682538 G
G
 A
A
 15 a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
others(12): Show 
a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0002t0078g0041
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0011t0051g0091
 15 HG01074.hp2
HG02135.hp2
HG02602.hp1
others(12): Show 
HG01074.hp2
HG02135.hp2
HG02602.hp1
HG03516.hp2
NA18747.hp1
NA18747.hp2
NA18955.hp2
NA18960.hp2
NA18984.hp2
NA18994.hp2
NA19000.hp2
NA19010.hp2
NA19064.hp2
NA19087.hp1
NA19091.hp1
 intron_variant MODIFIER c.285+14880C>T
c.285+14880C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 682538
chr17:682727 T
T
 G
G
 1 a0001c0002t0013g0083
a0001c0002t0013g0083
 1 NA20805.hp2
NA20805.hp2
 intron_variant MODIFIER c.285+14691A>C
c.285+14691A>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 682727
chr17:682743 G
G
 A
A
 1 a0001c0006t0053g0102
a0001c0006t0053g0102
 1 HG00099.hp2
HG00099.hp2
 intron_variant MODIFIER c.285+14675C>T
c.285+14675C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 682743
chr17:682850 A
A
 ATTAGATA
others(18): Show 
ATTAGATAGGCTACAGAGGAGGGGAT
 15 a0001c0001t0017g0158
a0001c0001t0032g0204
a0001c0001t0033g0205
others(12): Show 
a0001c0001t0017g0158
a0001c0001t0032g0204
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0034g0162
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0122g0160
a0001c0001t0127g0159
a0001c0001t0138g0161
a0001c0001t0141g0165
a0001c0014t0135g0166
a0001c0015t0126g0149
a0002c0010t0038g0156
a0007c0013t0132g0163
 15 HG00741.hp1
HG01106.hp2
HG01109.hp1
others(12): Show 
HG00741.hp1
HG01106.hp2
HG01109.hp1
HG01257.hp1
HG01258.hp2
HG01891.hp1
HG02572.hp1
HG02723.hp1
HG02886.hp2
HG02895.hp2
HG02922.hp1
HG03225.hp1
HG04204.hp1
NA20129.hp1
NA21309.hp1
 intron_variant MODIFIER c.285+14543_285+1456
others(29): Show 
c.285+14543_285+14567dupATCCCCTCCTCTGTAGCCTATCTAA
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 682850
chr17:682935 C
C
 T
T
 1 a0001c0002t0010g0057
a0001c0002t0010g0057
 1 NA19009.hp1
NA19009.hp1
 intron_variant MODIFIER c.285+14483G>A
c.285+14483G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 682935
chr17:683074 G
G
 A
A
 1 a0001c0002t0078g0041
a0001c0002t0078g0041
 1 HG03516.hp2
HG03516.hp2
 intron_variant MODIFIER c.285+14344C>T
c.285+14344C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 683074
chr17:683280 C
C
 T
T
 1 a0001c0005t0046g0011
a0001c0005t0046g0011
 1 NA18994.hp2
NA18994.hp2
 intron_variant MODIFIER c.285+14138G>A
c.285+14138G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 683280
chr17:683950 C
C
 T
T
 1 a0001c0006t0053g0102
a0001c0006t0053g0102
 1 HG00099.hp2
HG00099.hp2
 intron_variant MODIFIER c.285+13468G>A
c.285+13468G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 683950
chr17:684054 T
T
 C
C
 12 a0001c0002t0017g0225
a0001c0002t0035g0219
a0001c0002t0038g0224
others(9): Show 
a0001c0002t0017g0225
a0001c0002t0035g0219
a0001c0002t0038g0224
a0001c0002t0100g0223
a0001c0002t0109g0222
a0001c0002t0143g0226
a0001c0002t0149g0202
a0004c0008t0035g0203
a0004c0008t0103g0227
a0004c0008t0124g0229
a0004c0008t0133g0232
a0004c0008t0142g0228
 12 HG00099.hp1
HG00140.hp1
HG00438.hp1
others(9): Show 
HG00099.hp1
HG00140.hp1
HG00438.hp1
HG01346.hp1
HG01516.hp1
HG03942.hp2
HG04184.hp1
NA18944.hp2
NA18973.hp2
NA18990.hp2
NA19011.hp1
NA19066.hp1
 intron_variant MODIFIER c.285+13364A>G
c.285+13364A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 684054
chr17:684489 T
T
 C
C
 93 a0001c0001t0117g0230
a0001c0002t0001g0045
a0001c0002t0001g0056
others(90): Show 
a0001c0001t0117g0230
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0001c0016t0052g0099
a0002c0003t0073g0068
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
 93 HG00099.hp2
HG00140.hp2
HG00280.hp1
others(90): Show 
HG00099.hp2
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00621.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01106.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01255.hp1
HG01256.hp1
HG01257.hp2
HG01258.hp1
HG01361.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01928.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp2
HG02074.hp1
HG02109.hp1
HG02135.hp1
HG02293.hp2
HG02300.hp2
HG02738.hp1
HG02886.hp1
HG03491.hp1
HG03492.hp1
HG03688.hp1
HG03831.hp2
HG04204.hp2
NA18612.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18944.hp1
NA18945.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp2
NA18957.hp1
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18967.hp1
NA18973.hp1
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18979.hp1
NA18984.hp1
NA18986.hp2
NA18990.hp1
NA18994.hp1
NA19007.hp1
NA19009.hp1
NA19011.hp2
NA19060.hp1
NA19064.hp1
NA19065.hp1
NA19068.hp1
NA19070.hp1
NA19079.hp1
NA19080.hp1
NA19081.hp1
NA19084.hp1
NA19087.hp2
NA19090.hp1
NA19091.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.285+12929A>G
c.285+12929A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 684489
chr17:684496 C
C
 T
T
 39 a0001c0002t0125g0116
a0002c0003t0008g0180
a0002c0003t0008g0182
others(36): Show 
a0001c0002t0125g0116
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0017g0179
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0018g0231
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0085g0184
a0002c0003t0089g0175
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0099g0192
a0002c0003t0104g0208
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0145g0187
a0002c0003t0146g0170
a0002c0003t0148g0174
a0002c0003t0150g0191
a0004c0008t0036g0207
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
 39 HG00323.hp2
HG00423.hp1
HG00438.hp2
others(36): Show 
HG00323.hp2
HG00423.hp1
HG00438.hp2
HG00621.hp1
HG01070.hp2
HG01071.hp1
HG01099.hp1
HG01167.hp1
HG01928.hp1
HG01981.hp1
HG02040.hp1
HG02056.hp1
HG02074.hp2
HG02083.hp1
HG02129.hp1
HG02132.hp1
HG02293.hp1
HG02300.hp1
HG02738.hp2
HG03491.hp2
HG03831.hp1
HG03942.hp1
HG04199.hp1
NA18612.hp1
NA18946.hp1
NA18955.hp1
NA18957.hp2
NA18979.hp2
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA19000.hp1
NA19007.hp2
NA19010.hp1
NA19066.hp2
NA19074.hp1
NA19080.hp2
NA19084.hp2
NA19090.hp2
 intron_variant MODIFIER c.285+12922G>A
c.285+12922G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 684496
chr17:684681 T
T
 A
A
 5 a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
others(2): Show 
a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0005t0080g0092
a0001c0011t0051g0091
 5 HG01074.hp2
NA18747.hp2
NA18955.hp2
others(2): Show 
HG01074.hp2
NA18747.hp2
NA18955.hp2
NA18984.hp2
NA19064.hp2
 intron_variant MODIFIER c.285+12737A>T
c.285+12737A>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 684681
chr17:684713 G
G
 A
A
 3 a0001c0002t0001g0090
a0001c0002t0025g0075
a0001c0002t0067g0076
a0001c0002t0001g0090
a0001c0002t0025g0075
a0001c0002t0067g0076
 3 HG01168.hp1
HG01978.hp1
HG02738.hp1
HG01168.hp1
HG01978.hp1
HG02738.hp1
 intron_variant MODIFIER c.285+12705C>T
c.285+12705C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 684713
chr17:684784 G
G
 A
A
 1 a0001c0002t0086g0221
a0001c0002t0086g0221
 1 HG02145.hp1
HG02145.hp1
 intron_variant MODIFIER c.285+12634C>T
c.285+12634C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 684784
chr17:684861 G
G
 A
A
 42 a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
others(39): Show 
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0002c0003t0073g0068
 42 HG00140.hp2
HG00280.hp1
HG00323.hp1
others(39): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp1
HG00621.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01106.hp1
HG01167.hp2
HG01168.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01361.hp1
HG01496.hp1
HG01978.hp1
HG02135.hp1
HG02738.hp1
HG02886.hp1
HG04204.hp2
NA18906.hp2
NA18940.hp1
NA18944.hp1
NA18946.hp2
NA18948.hp2
NA18959.hp2
NA18960.hp1
NA18962.hp2
NA18967.hp1
NA18973.hp1
NA18977.hp2
NA18979.hp1
NA19007.hp1
NA19009.hp1
NA19065.hp1
NA19070.hp1
NA19079.hp1
NA19084.hp1
NA19090.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.285+12557C>T
c.285+12557C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 684861
chr17:684984 G
G
 T
T
 1 a0001c0002t0078g0041
a0001c0002t0078g0041
 1 HG03516.hp2
HG03516.hp2
 intron_variant MODIFIER c.285+12434C>A
c.285+12434C>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 684984
chr17:684988 C
C
 T
T
 1 a0001c0002t0078g0041
a0001c0002t0078g0041
 1 HG03516.hp2
HG03516.hp2
 intron_variant MODIFIER c.285+12430G>A
c.285+12430G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 684988
chr17:684989 C
C
 A
A
 1 a0001c0002t0078g0041
a0001c0002t0078g0041
 1 HG03516.hp2
HG03516.hp2
 intron_variant MODIFIER c.285+12429G>T
c.285+12429G>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 684989
chr17:684989 C
C
 T
T
 1 a0001c0002t0100g0223
a0001c0002t0100g0223
 1 NA18944.hp2
NA18944.hp2
 intron_variant MODIFIER c.285+12429G>A
c.285+12429G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 684989
chr17:685061 C
C
 T
T
 1 a0001c0002t0078g0041
a0001c0002t0078g0041
 1 HG03516.hp2
HG03516.hp2
 intron_variant MODIFIER c.285+12357G>A
c.285+12357G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 685061
chr17:685089 A
A
 G
G
 230 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(227): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0017g0158
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0032g0114
a0001c0001t0032g0204
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0034g0126
a0001c0001t0034g0162
a0001c0001t0069g0012
a0001c0001t0084g0046
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0097g0199
a0001c0001t0098g0147
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0105g0201
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0108g0148
a0001c0001t0110g0127
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0118g0195
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0122g0160
a0001c0001t0123g0123
a0001c0001t0127g0159
a0001c0001t0128g0132
a0001c0001t0134g0154
a0001c0001t0138g0161
a0001c0001t0141g0165
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0001g0094
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0017g0225
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0035g0219
a0001c0002t0038g0224
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0050g0049
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0065g0093
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0077g0095
a0001c0002t0078g0041
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0002t0086g0221
a0001c0002t0100g0223
a0001c0002t0109g0222
a0001c0002t0125g0116
a0001c0002t0143g0226
a0001c0002t0149g0202
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0001c0011t0051g0091
a0001c0014t0135g0166
a0001c0015t0126g0149
a0001c0016t0052g0099
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0017g0179
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0018g0231
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0073g0068
a0002c0003t0085g0184
a0002c0003t0089g0175
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0099g0192
a0002c0003t0104g0208
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0145g0187
a0002c0003t0146g0170
a0002c0003t0148g0174
a0002c0003t0150g0191
a0002c0010t0038g0156
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
a0004c0008t0035g0203
a0004c0008t0036g0207
a0004c0008t0103g0227
a0004c0008t0124g0229
a0004c0008t0133g0232
a0004c0008t0142g0228
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
a0006c0012t0129g0140
a0007c0013t0132g0163
 230 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(227): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00621.hp1
HG00621.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02056.hp1
HG02056.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18955.hp1
NA18955.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18967.hp1
NA18967.hp2
NA18973.hp1
NA18973.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18990.hp1
NA18990.hp2
NA18994.hp1
NA18994.hp2
NA19000.hp1
NA19000.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19087.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.285+12329T>C
c.285+12329T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 685089
chr17:685091 T
T
 C
C
 42 a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
others(39): Show 
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0002c0003t0073g0068
 42 HG00140.hp2
HG00280.hp1
HG00323.hp1
others(39): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp1
HG00621.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01106.hp1
HG01167.hp2
HG01168.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01361.hp1
HG01496.hp1
HG01978.hp1
HG02135.hp1
HG02738.hp1
HG02886.hp1
HG04204.hp2
NA18906.hp2
NA18940.hp1
NA18944.hp1
NA18946.hp2
NA18948.hp2
NA18959.hp2
NA18960.hp1
NA18962.hp2
NA18967.hp1
NA18973.hp1
NA18977.hp2
NA18979.hp1
NA19007.hp1
NA19009.hp1
NA19065.hp1
NA19070.hp1
NA19079.hp1
NA19084.hp1
NA19090.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.285+12327A>G
c.285+12327A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 685091
chr17:685545 G
G
 A
A
 6 a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
others(3): Show 
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0059g0029
a0003c0004t0061g0031
a0003c0004t0063g0034
 6 NA18945.hp1
NA18978.hp1
NA19060.hp1
others(3): Show 
NA18945.hp1
NA18978.hp1
NA19060.hp1
NA19064.hp1
NA19081.hp1
NA19091.hp2
 intron_variant MODIFIER c.285+11873C>T
c.285+11873C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 685545
chr17:685550 G
G
 A
A
 1 a0002c0010t0038g0156
a0002c0010t0038g0156
 1 NA21309.hp1
NA21309.hp1
 intron_variant MODIFIER c.285+11868C>T
c.285+11868C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 685550
chr17:685579 A
A
 G
G
 15 a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
others(12): Show 
a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0002t0078g0041
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0011t0051g0091
 15 HG01074.hp2
HG02135.hp2
HG02602.hp1
others(12): Show 
HG01074.hp2
HG02135.hp2
HG02602.hp1
HG03516.hp2
NA18747.hp1
NA18747.hp2
NA18955.hp2
NA18960.hp2
NA18984.hp2
NA18994.hp2
NA19000.hp2
NA19010.hp2
NA19064.hp2
NA19087.hp1
NA19091.hp1
 intron_variant MODIFIER c.285+11839T>C
c.285+11839T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 685579
chr17:686007 T
T
 TA
TA
 14 a0001c0001t0017g0158
a0001c0001t0032g0204
a0001c0001t0033g0205
others(11): Show 
a0001c0001t0017g0158
a0001c0001t0032g0204
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0034g0162
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0122g0160
a0001c0001t0123g0123
a0001c0001t0127g0159
a0001c0001t0138g0161
a0001c0001t0141g0165
a0002c0010t0038g0156
a0007c0013t0132g0163
 14 HG00741.hp1
HG01106.hp2
HG01109.hp1
others(11): Show 
HG00741.hp1
HG01106.hp2
HG01109.hp1
HG01257.hp1
HG01258.hp2
HG01891.hp1
HG02886.hp2
HG02895.hp2
HG02922.hp1
HG03225.hp1
HG04204.hp1
NA19081.hp2
NA20129.hp1
NA21309.hp1
 intron_variant MODIFIER c.285+11410dupT
c.285+11410dupT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 686007
chr17:686083 C
C
 T
T
 15 a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
others(12): Show 
a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0002t0078g0041
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0011t0051g0091
 15 HG01074.hp2
HG02135.hp2
HG02602.hp1
others(12): Show 
HG01074.hp2
HG02135.hp2
HG02602.hp1
HG03516.hp2
NA18747.hp1
NA18747.hp2
NA18955.hp2
NA18960.hp2
NA18984.hp2
NA18994.hp2
NA19000.hp2
NA19010.hp2
NA19064.hp2
NA19087.hp1
NA19091.hp1
 intron_variant MODIFIER c.285+11335G>A
c.285+11335G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 686083
chr17:686102 T
T
 A
A
 2 a0001c0014t0135g0166
a0001c0015t0126g0149
a0001c0014t0135g0166
a0001c0015t0126g0149
 2 HG02572.hp1
HG02723.hp1
HG02572.hp1
HG02723.hp1
 intron_variant MODIFIER c.285+11316A>T
c.285+11316A>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 686102
chr17:686175 T
T
 C
C
 15 a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
others(12): Show 
a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0002t0078g0041
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0011t0051g0091
 15 HG01074.hp2
HG02135.hp2
HG02602.hp1
others(12): Show 
HG01074.hp2
HG02135.hp2
HG02602.hp1
HG03516.hp2
NA18747.hp1
NA18747.hp2
NA18955.hp2
NA18960.hp2
NA18984.hp2
NA18994.hp2
NA19000.hp2
NA19010.hp2
NA19064.hp2
NA19087.hp1
NA19091.hp1
 intron_variant MODIFIER c.285+11243A>G
c.285+11243A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 686175
chr17:686376 C
C
 T
T
 30 a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
others(27): Show 
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
 30 HG01257.hp2
HG01516.hp2
HG01517.hp1
others(27): Show 
HG01257.hp2
HG01516.hp2
HG01517.hp1
HG02074.hp1
HG02109.hp1
HG03831.hp2
NA18612.hp2
NA18906.hp1
NA18945.hp1
NA18950.hp2
NA18957.hp1
NA18959.hp1
NA18961.hp2
NA18962.hp1
NA18977.hp1
NA18978.hp1
NA18984.hp1
NA18986.hp2
NA18990.hp1
NA18994.hp1
NA19011.hp2
NA19060.hp1
NA19064.hp1
NA19068.hp1
NA19080.hp1
NA19081.hp1
NA19087.hp2
NA19091.hp2
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.285+11042G>A
c.285+11042G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 686376
chr17:686411 T
T
 C
C
 2 a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0021g0100
a0001c0006t0021g0101
 2 HG03491.hp1
HG03492.hp1
HG03491.hp1
HG03492.hp1
 intron_variant MODIFIER c.285+11007A>G
c.285+11007A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 686411
chr17:686535 C
C
 A
A
 1 a0002c0003t0146g0170
a0002c0003t0146g0170
 1 NA19090.hp2
NA19090.hp2
 intron_variant MODIFIER c.285+10883G>T
c.285+10883G>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 686535
chr17:686742 G
G
 A
A
 230 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(227): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0017g0158
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0032g0114
a0001c0001t0032g0204
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0034g0126
a0001c0001t0034g0162
a0001c0001t0069g0012
a0001c0001t0084g0046
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0097g0199
a0001c0001t0098g0147
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0105g0201
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0108g0148
a0001c0001t0110g0127
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0118g0195
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0122g0160
a0001c0001t0123g0123
a0001c0001t0127g0159
a0001c0001t0128g0132
a0001c0001t0134g0154
a0001c0001t0138g0161
a0001c0001t0141g0165
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0001g0094
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0017g0225
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0035g0219
a0001c0002t0038g0224
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0050g0049
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0065g0093
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0077g0095
a0001c0002t0078g0041
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0002t0086g0221
a0001c0002t0100g0223
a0001c0002t0109g0222
a0001c0002t0125g0116
a0001c0002t0143g0226
a0001c0002t0149g0202
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0001c0011t0051g0091
a0001c0014t0135g0166
a0001c0015t0126g0149
a0001c0016t0052g0099
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0017g0179
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0018g0231
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0073g0068
a0002c0003t0085g0184
a0002c0003t0089g0175
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0099g0192
a0002c0003t0104g0208
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0145g0187
a0002c0003t0146g0170
a0002c0003t0148g0174
a0002c0003t0150g0191
a0002c0010t0038g0156
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
a0004c0008t0035g0203
a0004c0008t0036g0207
a0004c0008t0103g0227
a0004c0008t0124g0229
a0004c0008t0133g0232
a0004c0008t0142g0228
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
a0006c0012t0129g0140
a0007c0013t0132g0163
 230 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(227): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00621.hp1
HG00621.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02056.hp1
HG02056.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18955.hp1
NA18955.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18967.hp1
NA18967.hp2
NA18973.hp1
NA18973.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18990.hp1
NA18990.hp2
NA18994.hp1
NA18994.hp2
NA19000.hp1
NA19000.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19087.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.285+10676C>T
c.285+10676C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 686742
chr17:686911 C
C
 T
T
 1 a0001c0001t0123g0123
a0001c0001t0123g0123
 1 NA19081.hp2
NA19081.hp2
 intron_variant MODIFIER c.285+10507G>A
c.285+10507G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 686911
chr17:686945 G
G
 C
C
 1 a0001c0005t0044g0096
a0001c0005t0044g0096
 1 NA18960.hp2
NA18960.hp2
 intron_variant MODIFIER c.285+10473C>G
c.285+10473C>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 686945
chr17:687015 T
T
 G
G
 1 a0001c0001t0134g0154
a0001c0001t0134g0154
 1 NA20300.hp1
NA20300.hp1
 intron_variant MODIFIER c.285+10403A>C
c.285+10403A>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 687015
chr17:687217 C
C
 T
T
 1 a0002c0010t0038g0156
a0002c0010t0038g0156
 1 NA21309.hp1
NA21309.hp1
 intron_variant MODIFIER c.285+10201G>A
c.285+10201G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 687217
chr17:687249 G
G
 C
C
 2 a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0028g0196
a0001c0001t0028g0197
 2 HG02622.hp1
HG02723.hp2
HG02622.hp1
HG02723.hp2
 intron_variant MODIFIER c.285+10169C>G
c.285+10169C>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 687249
chr17:687285 CA
CA
 C
C
 108 a0001c0001t0117g0230
a0001c0002t0001g0045
a0001c0002t0001g0056
others(105): Show 
a0001c0001t0117g0230
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0001g0094
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0065g0093
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0077g0095
a0001c0002t0078g0041
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0001c0011t0051g0091
a0001c0016t0052g0099
a0002c0003t0073g0068
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
 108 HG00099.hp2
HG00140.hp2
HG00280.hp1
others(105): Show 
HG00099.hp2
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00621.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01106.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01255.hp1
HG01256.hp1
HG01257.hp2
HG01258.hp1
HG01361.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01928.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp2
HG02074.hp1
HG02109.hp1
HG02135.hp1
HG02135.hp2
HG02293.hp2
HG02300.hp2
HG02602.hp1
HG02738.hp1
HG02886.hp1
HG03491.hp1
HG03492.hp1
HG03516.hp2
HG03688.hp1
HG03831.hp2
HG04204.hp2
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18944.hp1
NA18945.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp2
NA18955.hp2
NA18957.hp1
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18967.hp1
NA18973.hp1
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18979.hp1
NA18984.hp1
NA18984.hp2
NA18986.hp2
NA18990.hp1
NA18994.hp1
NA18994.hp2
NA19000.hp2
NA19007.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp2
NA19060.hp1
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19068.hp1
NA19070.hp1
NA19079.hp1
NA19080.hp1
NA19081.hp1
NA19084.hp1
NA19087.hp1
NA19087.hp2
NA19090.hp1
NA19091.hp1
NA19091.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.285+10132delT
c.285+10132delT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 687285
chr17:687358 A
A
 G
G
 1 a0002c0003t0008g0180
a0002c0003t0008g0180
 1 HG02293.hp1
HG02293.hp1
 intron_variant MODIFIER c.285+10060T>C
c.285+10060T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 687358
chr17:687380 A
A
 G
G
 1 a0001c0001t0108g0148
a0001c0001t0108g0148
 1 HG01192.hp1
HG01192.hp1
 intron_variant MODIFIER c.285+10038T>C
c.285+10038T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 687380
chr17:687432 C
C
 T
T
 14 a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
others(11): Show 
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0097g0199
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0105g0201
a0001c0001t0118g0195
a0001c0001t0134g0154
 14 HG01109.hp2
HG01346.hp2
HG01884.hp1
others(11): Show 
HG01109.hp2
HG01346.hp2
HG01884.hp1
HG01891.hp2
HG02572.hp2
HG02622.hp1
HG02622.hp2
HG02723.hp2
HG02818.hp1
HG02922.hp2
HG03139.hp1
HG03139.hp2
NA20129.hp2
NA20300.hp1
 intron_variant MODIFIER c.285+9986G>A
c.285+9986G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 687432
chr17:687462 G
G
 A
A
 5 a0001c0002t0001g0056
a0001c0002t0001g0082
a0001c0002t0003g0053
others(2): Show 
a0001c0002t0001g0056
a0001c0002t0001g0082
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0014g0055
 5 HG01071.hp2
HG01074.hp1
HG01167.hp2
others(2): Show 
HG01071.hp2
HG01074.hp1
HG01167.hp2
HG02886.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.285+9956C>T
c.285+9956C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 687462
chr17:687688 T
T
 C
C
 21 a0001c0001t0117g0230
a0001c0006t0001g0113
a0001c0006t0021g0100
others(18): Show 
a0001c0001t0117g0230
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0001c0016t0052g0099
 21 HG00099.hp2
HG00280.hp2
HG01081.hp2
others(18): Show 
HG00099.hp2
HG00280.hp2
HG01081.hp2
HG01099.hp2
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp2
HG01928.hp2
HG01978.hp2
HG01981.hp2
HG02293.hp2
HG02300.hp2
HG03491.hp1
HG03492.hp1
HG03688.hp1
NA18948.hp1
 intron_variant MODIFIER c.285+9730A>G
c.285+9730A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 687688
chr17:687734 T
T
 A
A
 1 a0001c0006t0039g0003
a0001c0006t0039g0003
 1 HG01515.hp2
HG01515.hp2
 intron_variant MODIFIER c.285+9684A>T
c.285+9684A>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 687734
chr17:687838 G
G
 A
A
 122 a0001c0001t0117g0230
a0001c0002t0001g0045
a0001c0002t0001g0056
others(119): Show 
a0001c0001t0117g0230
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0001g0094
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0017g0225
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0035g0219
a0001c0002t0038g0224
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0050g0049
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0065g0093
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0077g0095
a0001c0002t0078g0041
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0002t0086g0221
a0001c0002t0100g0223
a0001c0002t0109g0222
a0001c0002t0143g0226
a0001c0002t0149g0202
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0001c0011t0051g0091
a0001c0016t0052g0099
a0002c0003t0073g0068
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
a0004c0008t0035g0203
a0004c0008t0103g0227
a0004c0008t0124g0229
a0004c0008t0133g0232
a0004c0008t0142g0228
 122 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(119): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00438.hp1
HG00621.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01106.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01255.hp1
HG01256.hp1
HG01257.hp2
HG01258.hp1
HG01346.hp1
HG01361.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01928.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp2
HG02074.hp1
HG02109.hp1
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02280.hp1
HG02293.hp2
HG02300.hp2
HG02602.hp1
HG02738.hp1
HG02886.hp1
HG03491.hp1
HG03492.hp1
HG03516.hp2
HG03688.hp1
HG03831.hp2
HG03942.hp2
HG04184.hp1
HG04204.hp2
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp2
NA18955.hp2
NA18957.hp1
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18967.hp1
NA18973.hp1
NA18973.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18979.hp1
NA18984.hp1
NA18984.hp2
NA18986.hp2
NA18990.hp1
NA18990.hp2
NA18994.hp1
NA18994.hp2
NA19000.hp2
NA19007.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19060.hp1
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19079.hp1
NA19080.hp1
NA19081.hp1
NA19084.hp1
NA19087.hp1
NA19087.hp2
NA19090.hp1
NA19091.hp1
NA19091.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.285+9580C>T
c.285+9580C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 687838
chr17:688073 G
G
 A
A
 5 a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
others(2): Show 
a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0005t0080g0092
a0001c0011t0051g0091
 5 HG01074.hp2
NA18747.hp2
NA18955.hp2
others(2): Show 
HG01074.hp2
NA18747.hp2
NA18955.hp2
NA18984.hp2
NA19064.hp2
 intron_variant MODIFIER c.285+9345C>T
c.285+9345C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 688073
chr17:688081 G
G
 A
A
 9 a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
others(6): Show 
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
 9 HG02135.hp2
HG02602.hp1
NA18747.hp1
others(6): Show 
HG02135.hp2
HG02602.hp1
NA18747.hp1
NA18960.hp2
NA18994.hp2
NA19000.hp2
NA19010.hp2
NA19087.hp1
NA19091.hp1
 intron_variant MODIFIER c.285+9337C>T
c.285+9337C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 688081
chr17:688445 G
G
 A
A
 6 a0001c0002t0022g0085
a0001c0002t0066g0070
a0001c0002t0072g0071
others(3): Show 
a0001c0002t0022g0085
a0001c0002t0066g0070
a0001c0002t0072g0071
a0001c0002t0082g0069
a0001c0002t0083g0067
a0002c0003t0073g0068
 6 HG00621.hp2
NA18940.hp1
NA18946.hp2
others(3): Show 
HG00621.hp2
NA18940.hp1
NA18946.hp2
NA18960.hp1
NA18977.hp2
NA19079.hp1
 intron_variant MODIFIER c.285+8973C>T
c.285+8973C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 688445
chr17:688485 T
T
 C
C
 3 a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0134g0154
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0134g0154
 3 HG01891.hp2
NA20129.hp2
NA20300.hp1
HG01891.hp2
NA20129.hp2
NA20300.hp1
 intron_variant MODIFIER c.285+8933A>G
c.285+8933A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 688485
chr17:688490 A
A
 G
G
 1 a0002c0003t0091g0209
a0002c0003t0091g0209
 1 HG02300.hp1
HG02300.hp1
 intron_variant MODIFIER c.285+8928T>C
c.285+8928T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 688490
chr17:688672 G
G
 A
A
 3 a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0134g0154
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0134g0154
 3 HG01891.hp2
NA20129.hp2
NA20300.hp1
HG01891.hp2
NA20129.hp2
NA20300.hp1
 intron_variant MODIFIER c.285+8746C>T
c.285+8746C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 688672
chr17:688724 C
C
 T
T
 1 a0001c0001t0032g0114
a0001c0001t0032g0114
 1 HG02895.hp1
HG02895.hp1
 intron_variant MODIFIER c.285+8694G>A
c.285+8694G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 688724
chr17:688744 G
G
 A
A
 1 a0002c0010t0038g0156
a0002c0010t0038g0156
 1 NA21309.hp1
NA21309.hp1
 intron_variant MODIFIER c.285+8674C>T
c.285+8674C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 688744
chr17:689357 G
G
 A
A
 5 a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
others(2): Show 
a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0005t0080g0092
a0001c0011t0051g0091
 5 HG01074.hp2
NA18747.hp2
NA18955.hp2
others(2): Show 
HG01074.hp2
NA18747.hp2
NA18955.hp2
NA18984.hp2
NA19064.hp2
 intron_variant MODIFIER c.285+8061C>T
c.285+8061C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 689357
chr17:689464 A
A
 AT
AT
 19 a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0005g0061
others(16): Show 
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0005g0061
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0014g0077
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0058g0052
a0001c0002t0076g0050
a0001c0006t0040g0002
a0001c0006t0057g0103
a0001c0007t0012g0111
 19 HG00280.hp2
HG01256.hp1
HG01258.hp1
others(16): Show 
HG00280.hp2
HG01256.hp1
HG01258.hp1
HG01978.hp2
HG01981.hp2
HG02135.hp1
HG02738.hp1
HG02886.hp1
NA18944.hp1
NA18959.hp2
NA18962.hp2
NA18967.hp1
NA18973.hp1
NA18979.hp1
NA19007.hp1
NA19009.hp1
NA19065.hp1
NA19084.hp1
NA19090.hp1
 intron_variant MODIFIER c.285+7953dupA
c.285+7953dupA
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 689464
chr17:689464 AT
AT
 A
A
 5 a0001c0002t0065g0093
a0002c0003t0144g0215
a0003c0004t0060g0039
others(2): Show 
a0001c0002t0065g0093
a0002c0003t0144g0215
a0003c0004t0060g0039
a0003c0004t0071g0037
a0005c0009t0137g0189
 5 HG02738.hp2
HG03831.hp2
NA18906.hp1
others(2): Show 
HG02738.hp2
HG03831.hp2
NA18906.hp1
NA18955.hp1
NA18984.hp2
 intron_variant MODIFIER c.285+7953delA
c.285+7953delA
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 689464
chr17:689464 ATT
ATT
 A
A
 60 a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
others(57): Show 
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0018g0214
a0002c0003t0018g0231
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0085g0184
a0002c0003t0089g0175
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0099g0192
a0002c0003t0104g0208
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0145g0187
a0002c0003t0146g0170
a0002c0003t0148g0174
a0002c0003t0150g0191
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0081g0035
a0004c0008t0036g0207
a0005c0009t0147g0177
 60 HG00323.hp2
HG00423.hp1
HG00438.hp2
others(57): Show 
HG00323.hp2
HG00423.hp1
HG00438.hp2
HG00621.hp1
HG01070.hp2
HG01071.hp1
HG01099.hp1
HG01167.hp1
HG01516.hp2
HG01517.hp1
HG01928.hp1
HG01981.hp1
HG02040.hp1
HG02056.hp1
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02109.hp1
HG02132.hp1
HG02293.hp1
HG02300.hp1
HG03491.hp2
HG03831.hp1
HG03942.hp1
HG04199.hp1
NA18612.hp1
NA18612.hp2
NA18945.hp1
NA18950.hp2
NA18957.hp1
NA18959.hp1
NA18961.hp2
NA18962.hp1
NA18977.hp1
NA18978.hp1
NA18979.hp2
NA18983.hp1
NA18984.hp1
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18990.hp1
NA18994.hp1
NA19000.hp1
NA19010.hp1
NA19011.hp2
NA19060.hp1
NA19064.hp1
NA19066.hp2
NA19068.hp1
NA19074.hp1
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19084.hp2
NA19087.hp2
NA19090.hp2
NA19091.hp2
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.285+7952_285+7953d
others(4): Show 
c.285+7952_285+7953delAA
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 689464
chr17:689464 ATTTTTTT
ATTTTTTT
 A
A
 6 a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0084g0046
others(3): Show 
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0084g0046
a0001c0001t0087g0198
a0001c0001t0105g0201
a0001c0006t0041g0001
 6 HG01109.hp2
HG01175.hp1
HG02622.hp1
others(3): Show 
HG01109.hp2
HG01175.hp1
HG02622.hp1
HG02723.hp2
HG02818.hp1
HG03516.hp1
 intron_variant MODIFIER c.285+7947_285+7953d
others(9): Show 
c.285+7947_285+7953delAAAAAAA
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 689464
chr17:689464 ATTTTTTT
others(1): Show 
ATTTTTTTT
 A
A
 62 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(59): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0017g0158
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0032g0114
a0001c0001t0032g0204
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0034g0126
a0001c0001t0034g0162
a0001c0001t0069g0012
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0098g0147
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0108g0148
a0001c0001t0110g0127
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0118g0195
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0122g0160
a0001c0001t0123g0123
a0001c0001t0127g0159
a0001c0001t0128g0132
a0001c0001t0134g0154
a0001c0001t0138g0161
a0001c0001t0141g0165
a0001c0002t0078g0041
a0001c0005t0019g0006
a0001c0014t0135g0166
a0001c0015t0126g0149
a0002c0010t0038g0156
a0006c0012t0129g0140
a0007c0013t0132g0163
 62 HG00423.hp2
HG00741.hp1
HG00741.hp2
others(59): Show 
HG00423.hp2
HG00741.hp1
HG00741.hp2
HG01106.hp2
HG01109.hp1
HG01192.hp1
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01346.hp2
HG01361.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG02040.hp2
HG02056.hp2
HG02083.hp2
HG02109.hp2
HG02129.hp2
HG02132.hp2
HG02280.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02723.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG03139.hp1
HG03225.hp1
HG03225.hp2
HG03492.hp2
HG03516.hp2
HG03688.hp2
HG04184.hp2
HG04199.hp2
HG04204.hp1
NA18940.hp2
NA18945.hp2
NA18950.hp1
NA18961.hp1
NA18967.hp2
NA18978.hp2
NA18983.hp2
NA18987.hp2
NA19009.hp2
NA19010.hp2
NA19060.hp2
NA19065.hp2
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19079.hp2
NA19081.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA21309.hp1
 intron_variant MODIFIER c.285+7946_285+7953d
others(10): Show 
c.285+7946_285+7953delAAAAAAAA
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 689464
chr17:689464 ATTTTTTT
others(2): Show 
ATTTTTTTTT
 A
A
 8 a0001c0005t0010g0008
a0001c0005t0019g0007
a0001c0005t0020g0005
others(5): Show 
a0001c0005t0010g0008
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
 8 HG02135.hp2
HG02602.hp1
NA18747.hp1
others(5): Show 
HG02135.hp2
HG02602.hp1
NA18747.hp1
NA18960.hp2
NA18994.hp2
NA19000.hp2
NA19087.hp1
NA19091.hp1
 intron_variant MODIFIER c.285+7945_285+7953d
others(11): Show 
c.285+7945_285+7953delAAAAAAAAA
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 689464
chr17:689693 T
T
 C
C
 131 a0001c0001t0117g0230
a0001c0002t0001g0045
a0001c0002t0001g0056
others(128): Show 
a0001c0001t0117g0230
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0001g0094
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0017g0225
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0035g0219
a0001c0002t0038g0224
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0050g0049
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0065g0093
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0077g0095
a0001c0002t0078g0041
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0002t0086g0221
a0001c0002t0100g0223
a0001c0002t0109g0222
a0001c0002t0125g0116
a0001c0002t0143g0226
a0001c0002t0149g0202
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0001c0011t0051g0091
a0001c0016t0052g0099
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0017g0179
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0018g0231
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0073g0068
a0002c0003t0085g0184
a0002c0003t0089g0175
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0099g0192
a0002c0003t0104g0208
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0145g0187
a0002c0003t0146g0170
a0002c0003t0148g0174
a0002c0003t0150g0191
a0004c0008t0035g0203
a0004c0008t0036g0207
a0004c0008t0103g0227
a0004c0008t0124g0229
a0004c0008t0133g0232
a0004c0008t0142g0228
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
 131 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(128): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00621.hp1
HG00621.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01346.hp1
HG01361.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp2
HG01928.hp1
HG01928.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02056.hp1
HG02074.hp2
HG02083.hp1
HG02129.hp1
HG02132.hp1
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02280.hp1
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02602.hp1
HG02738.hp1
HG02738.hp2
HG02886.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03516.hp2
HG03688.hp1
HG03831.hp1
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04199.hp1
HG04204.hp2
NA18612.hp1
NA18747.hp1
NA18747.hp2
NA18906.hp2
NA18940.hp1
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18955.hp1
NA18955.hp2
NA18957.hp2
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18962.hp2
NA18967.hp1
NA18973.hp1
NA18973.hp2
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18984.hp2
NA18986.hp1
NA18987.hp1
NA18990.hp2
NA18994.hp2
NA19000.hp1
NA19000.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19064.hp2
NA19065.hp1
NA19066.hp1
NA19066.hp2
NA19070.hp1
NA19074.hp1
NA19079.hp1
NA19080.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.285+7725A>G
c.285+7725A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 689693
chr17:689770 G
G
 A
A
 230 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(227): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0017g0158
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0032g0114
a0001c0001t0032g0204
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0034g0126
a0001c0001t0034g0162
a0001c0001t0069g0012
a0001c0001t0084g0046
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0097g0199
a0001c0001t0098g0147
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0105g0201
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0108g0148
a0001c0001t0110g0127
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0118g0195
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0122g0160
a0001c0001t0123g0123
a0001c0001t0127g0159
a0001c0001t0128g0132
a0001c0001t0134g0154
a0001c0001t0138g0161
a0001c0001t0141g0165
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0001g0094
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0017g0225
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0035g0219
a0001c0002t0038g0224
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0050g0049
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0065g0093
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0077g0095
a0001c0002t0078g0041
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0002t0086g0221
a0001c0002t0100g0223
a0001c0002t0109g0222
a0001c0002t0125g0116
a0001c0002t0143g0226
a0001c0002t0149g0202
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0001c0011t0051g0091
a0001c0014t0135g0166
a0001c0015t0126g0149
a0001c0016t0052g0099
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0017g0179
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0018g0231
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0073g0068
a0002c0003t0085g0184
a0002c0003t0089g0175
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0099g0192
a0002c0003t0104g0208
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0145g0187
a0002c0003t0146g0170
a0002c0003t0148g0174
a0002c0003t0150g0191
a0002c0010t0038g0156
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
a0004c0008t0035g0203
a0004c0008t0036g0207
a0004c0008t0103g0227
a0004c0008t0124g0229
a0004c0008t0133g0232
a0004c0008t0142g0228
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
a0006c0012t0129g0140
a0007c0013t0132g0163
 230 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(227): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00621.hp1
HG00621.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02056.hp1
HG02056.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18955.hp1
NA18955.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18967.hp1
NA18967.hp2
NA18973.hp1
NA18973.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18990.hp1
NA18990.hp2
NA18994.hp1
NA18994.hp2
NA19000.hp1
NA19000.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19087.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.285+7648C>T
c.285+7648C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 689770
chr17:689998 T
T
 G
G
 1 a0001c0001t0032g0204
a0001c0001t0032g0204
 1 HG02922.hp1
HG02922.hp1
 intron_variant MODIFIER c.285+7420A>C
c.285+7420A>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 689998
chr17:690360 T
T
 C
C
 63 a0001c0001t0117g0230
a0001c0002t0001g0045
a0001c0002t0001g0056
others(60): Show 
a0001c0001t0117g0230
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0001c0016t0052g0099
a0002c0003t0073g0068
 63 HG00099.hp2
HG00140.hp2
HG00280.hp1
others(60): Show 
HG00099.hp2
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00621.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01106.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01361.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp2
HG01928.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp2
HG02135.hp1
HG02293.hp2
HG02300.hp2
HG02738.hp1
HG02886.hp1
HG03491.hp1
HG03492.hp1
HG03688.hp1
HG04204.hp2
NA18906.hp2
NA18940.hp1
NA18944.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18959.hp2
NA18960.hp1
NA18962.hp2
NA18967.hp1
NA18973.hp1
NA18977.hp2
NA18979.hp1
NA19007.hp1
NA19009.hp1
NA19065.hp1
NA19070.hp1
NA19079.hp1
NA19084.hp1
NA19090.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.285+7058A>G
c.285+7058A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 690360
chr17:690400 T
T
 C
C
 231 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(228): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0017g0158
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0032g0114
a0001c0001t0032g0204
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0034g0126
a0001c0001t0034g0162
a0001c0001t0069g0012
a0001c0001t0084g0046
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0097g0199
a0001c0001t0098g0147
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0105g0201
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0108g0148
a0001c0001t0110g0127
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0118g0195
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0122g0160
a0001c0001t0123g0123
a0001c0001t0127g0159
a0001c0001t0128g0132
a0001c0001t0134g0154
a0001c0001t0138g0161
a0001c0001t0141g0165
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0001g0094
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0017g0225
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0035g0219
a0001c0002t0038g0224
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0049g0048
a0001c0002t0050g0049
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0065g0093
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0077g0095
a0001c0002t0078g0041
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0002t0086g0221
a0001c0002t0100g0223
a0001c0002t0109g0222
a0001c0002t0125g0116
a0001c0002t0143g0226
a0001c0002t0149g0202
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0001c0011t0051g0091
a0001c0014t0135g0166
a0001c0015t0126g0149
a0001c0016t0052g0099
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0017g0179
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0018g0231
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0073g0068
a0002c0003t0085g0184
a0002c0003t0089g0175
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0099g0192
a0002c0003t0104g0208
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0145g0187
a0002c0003t0146g0170
a0002c0003t0148g0174
a0002c0003t0150g0191
a0002c0010t0038g0156
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
a0004c0008t0035g0203
a0004c0008t0036g0207
a0004c0008t0103g0227
a0004c0008t0124g0229
a0004c0008t0133g0232
a0004c0008t0142g0228
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
a0006c0012t0129g0140
a0007c0013t0132g0163
 231 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(228): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00621.hp1
HG00621.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02056.hp1
HG02056.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18955.hp1
NA18955.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18967.hp1
NA18967.hp2
NA18973.hp1
NA18973.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18990.hp1
NA18990.hp2
NA18994.hp1
NA18994.hp2
NA19000.hp1
NA19000.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19087.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.285+7018A>G
c.285+7018A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 690400
chr17:690432 C
C
 T
T
 9 a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
others(6): Show 
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
 9 HG02135.hp2
HG02602.hp1
NA18747.hp1
others(6): Show 
HG02135.hp2
HG02602.hp1
NA18747.hp1
NA18960.hp2
NA18994.hp2
NA19000.hp2
NA19010.hp2
NA19087.hp1
NA19091.hp1
 intron_variant MODIFIER c.285+6986G>A
c.285+6986G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 690432
chr17:690579 G
G
 A
A
 30 a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
others(27): Show 
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
 30 HG01257.hp2
HG01516.hp2
HG01517.hp1
others(27): Show 
HG01257.hp2
HG01516.hp2
HG01517.hp1
HG02074.hp1
HG02109.hp1
HG03831.hp2
NA18612.hp2
NA18906.hp1
NA18945.hp1
NA18950.hp2
NA18957.hp1
NA18959.hp1
NA18961.hp2
NA18962.hp1
NA18977.hp1
NA18978.hp1
NA18984.hp1
NA18986.hp2
NA18990.hp1
NA18994.hp1
NA19011.hp2
NA19060.hp1
NA19064.hp1
NA19068.hp1
NA19080.hp1
NA19081.hp1
NA19087.hp2
NA19091.hp2
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.285+6839C>T
c.285+6839C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 690579
chr17:690731 AAAAAATC
others(40): Show 
AAAAAATCTCAGCAAATCCAAGGTAATGGAAGAACAATGTCTACAATC
 A
A
 5 a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
others(2): Show 
a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0005t0080g0092
a0001c0011t0051g0091
 5 HG01074.hp2
NA18747.hp2
NA18955.hp2
others(2): Show 
HG01074.hp2
NA18747.hp2
NA18955.hp2
NA18984.hp2
NA19064.hp2
 intron_variant MODIFIER c.285+6640_285+6686d
others(49): Show 
c.285+6640_285+6686delGATTGTAGACATTGTTCTTCCATTACCT
TGGATTTGCTGAGATTTTT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 690731
chr17:690870 T
T
 C
C
 3 a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0106g0117
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0106g0117
 3 HG01884.hp2
HG02109.hp2
HG02280.hp2
HG01884.hp2
HG02109.hp2
HG02280.hp2
 intron_variant MODIFIER c.285+6548A>G
c.285+6548A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 690870
chr17:691295 T
T
 G
G
 1 a0001c0015t0126g0149
a0001c0015t0126g0149
 1 HG02723.hp1
HG02723.hp1
 intron_variant MODIFIER c.285+6123A>C
c.285+6123A>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 691295
chr17:691383 C
C
 T
T
 1 a0001c0001t0112g0157
a0001c0001t0112g0157
 1 NA20129.hp1
NA20129.hp1
 intron_variant MODIFIER c.285+6035G>A
c.285+6035G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 691383
chr17:691633 C
C
 T
T
 2 a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0028g0196
a0001c0001t0028g0197
 2 HG02622.hp1
HG02723.hp2
HG02622.hp1
HG02723.hp2
 intron_variant MODIFIER c.285+5785G>A
c.285+5785G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 691633
chr17:691640 C
C
 G
G
 1 a0001c0006t0001g0113
a0001c0006t0001g0113
 1 HG03688.hp1
HG03688.hp1
 intron_variant MODIFIER c.285+5778G>C
c.285+5778G>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 691640
chr17:691760 G
G
 A
A
 2 a0001c0001t0122g0160
a0001c0001t0138g0161
a0001c0001t0122g0160
a0001c0001t0138g0161
 2 HG01257.hp1
HG01258.hp2
HG01257.hp1
HG01258.hp2
 intron_variant MODIFIER c.285+5658C>T
c.285+5658C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 691760
chr17:691933 A
A
 C
C
 9 a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
others(6): Show 
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
 9 HG02135.hp2
HG02602.hp1
NA18747.hp1
others(6): Show 
HG02135.hp2
HG02602.hp1
NA18747.hp1
NA18960.hp2
NA18994.hp2
NA19000.hp2
NA19010.hp2
NA19087.hp1
NA19091.hp1
 intron_variant MODIFIER c.285+5485T>G
c.285+5485T>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 691933
chr17:691973 T
T
 C
C
 1 a0001c0002t0078g0041
a0001c0002t0078g0041
 1 HG03516.hp2
HG03516.hp2
 intron_variant MODIFIER c.285+5445A>G
c.285+5445A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 691973
chr17:692077 T
T
 C
C
 15 a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
others(12): Show 
a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0002t0078g0041
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0011t0051g0091
 15 HG01074.hp2
HG02135.hp2
HG02602.hp1
others(12): Show 
HG01074.hp2
HG02135.hp2
HG02602.hp1
HG03516.hp2
NA18747.hp1
NA18747.hp2
NA18955.hp2
NA18960.hp2
NA18984.hp2
NA18994.hp2
NA19000.hp2
NA19010.hp2
NA19064.hp2
NA19087.hp1
NA19091.hp1
 intron_variant MODIFIER c.285+5341A>G
c.285+5341A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 692077
chr17:692094 C
C
 T
T
 1 a0004c0008t0035g0203
a0004c0008t0035g0203
 1 HG04184.hp1
HG04184.hp1
 intron_variant MODIFIER c.285+5324G>A
c.285+5324G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 692094
chr17:692182 T
T
 C
C
 1 a0001c0001t0113g0122
a0001c0001t0113g0122
 1 HG00741.hp2
HG00741.hp2
 intron_variant MODIFIER c.285+5236A>G
c.285+5236A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 692182
chr17:692232 C
C
 T
T
 1 a0001c0016t0052g0099
a0001c0016t0052g0099
 1 HG01168.hp2
HG01168.hp2
 intron_variant MODIFIER c.285+5186G>A
c.285+5186G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 692232
chr17:692298 T
T
 C
C
 52 a0001c0002t0017g0225
a0001c0002t0035g0219
a0001c0002t0038g0224
others(49): Show 
a0001c0002t0017g0225
a0001c0002t0035g0219
a0001c0002t0038g0224
a0001c0002t0086g0221
a0001c0002t0100g0223
a0001c0002t0109g0222
a0001c0002t0125g0116
a0001c0002t0143g0226
a0001c0002t0149g0202
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0017g0179
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0018g0231
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0085g0184
a0002c0003t0089g0175
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0099g0192
a0002c0003t0104g0208
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0145g0187
a0002c0003t0146g0170
a0002c0003t0148g0174
a0002c0003t0150g0191
a0004c0008t0035g0203
a0004c0008t0036g0207
a0004c0008t0103g0227
a0004c0008t0124g0229
a0004c0008t0133g0232
a0004c0008t0142g0228
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
 52 HG00099.hp1
HG00140.hp1
HG00323.hp2
others(49): Show 
HG00099.hp1
HG00140.hp1
HG00323.hp2
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00621.hp1
HG01070.hp2
HG01071.hp1
HG01099.hp1
HG01167.hp1
HG01346.hp1
HG01516.hp1
HG01928.hp1
HG01981.hp1
HG02040.hp1
HG02056.hp1
HG02074.hp2
HG02083.hp1
HG02129.hp1
HG02132.hp1
HG02145.hp1
HG02293.hp1
HG02300.hp1
HG02738.hp2
HG03491.hp2
HG03831.hp1
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04199.hp1
NA18612.hp1
NA18944.hp2
NA18946.hp1
NA18955.hp1
NA18957.hp2
NA18973.hp2
NA18979.hp2
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA18990.hp2
NA19000.hp1
NA19007.hp2
NA19010.hp1
NA19011.hp1
NA19066.hp1
NA19066.hp2
NA19074.hp1
NA19080.hp2
NA19084.hp2
NA19090.hp2
 intron_variant MODIFIER c.285+5120A>G
c.285+5120A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 692298
chr17:692666 AC
AC
 A
A
 9 a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
others(6): Show 
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
 9 HG02135.hp2
HG02602.hp1
NA18747.hp1
others(6): Show 
HG02135.hp2
HG02602.hp1
NA18747.hp1
NA18960.hp2
NA18994.hp2
NA19000.hp2
NA19010.hp2
NA19087.hp1
NA19091.hp1
 intron_variant MODIFIER c.285+4751delG
c.285+4751delG
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 692666
chr17:692708 T
T
 A
A
 1 a0001c0002t0078g0041
a0001c0002t0078g0041
 1 HG03516.hp2
HG03516.hp2
 intron_variant MODIFIER c.285+4710A>T
c.285+4710A>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 692708
chr17:692750 C
C
 G
G
 5 a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
others(2): Show 
a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0005t0080g0092
a0001c0011t0051g0091
 5 HG01074.hp2
NA18747.hp2
NA18955.hp2
others(2): Show 
HG01074.hp2
NA18747.hp2
NA18955.hp2
NA18984.hp2
NA19064.hp2
 intron_variant MODIFIER c.285+4668G>C
c.285+4668G>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 692750
chr17:692863 T
T
 C
C
 1 a0001c0001t0084g0046
a0001c0001t0084g0046
 1 HG03516.hp1
HG03516.hp1
 intron_variant MODIFIER c.285+4555A>G
c.285+4555A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 692863
chr17:692911 G
G
 A
A
 1 a0001c0002t0001g0056
a0001c0002t0001g0056
 1 HG01167.hp2
HG01167.hp2
 intron_variant MODIFIER c.285+4507C>T
c.285+4507C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 692911
chr17:692921 G
G
 A
A
 1 a0002c0003t0085g0184
a0002c0003t0085g0184
 1 HG03491.hp2
HG03491.hp2
 intron_variant MODIFIER c.285+4497C>T
c.285+4497C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 692921
chr17:693531 G
G
 A
A
 1 a0002c0003t0018g0231
a0002c0003t0018g0231
 1 HG03942.hp1
HG03942.hp1
 intron_variant MODIFIER c.285+3887C>T
c.285+3887C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 693531
chr17:693732 G
G
 A
A
 15 a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
others(12): Show 
a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0002t0078g0041
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0011t0051g0091
 15 HG01074.hp2
HG02135.hp2
HG02602.hp1
others(12): Show 
HG01074.hp2
HG02135.hp2
HG02602.hp1
HG03516.hp2
NA18747.hp1
NA18747.hp2
NA18955.hp2
NA18960.hp2
NA18984.hp2
NA18994.hp2
NA19000.hp2
NA19010.hp2
NA19064.hp2
NA19087.hp1
NA19091.hp1
 intron_variant MODIFIER c.285+3686C>T
c.285+3686C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 693732
chr17:693826 A
A
 AT
AT
 230 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(227): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0017g0158
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0032g0114
a0001c0001t0032g0204
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0034g0126
a0001c0001t0034g0162
a0001c0001t0069g0012
a0001c0001t0084g0046
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0097g0199
a0001c0001t0098g0147
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0105g0201
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0108g0148
a0001c0001t0110g0127
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0118g0195
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0122g0160
a0001c0001t0123g0123
a0001c0001t0127g0159
a0001c0001t0128g0132
a0001c0001t0134g0154
a0001c0001t0138g0161
a0001c0001t0141g0165
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0001g0094
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0017g0225
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0035g0219
a0001c0002t0038g0224
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0050g0049
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0065g0093
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0077g0095
a0001c0002t0078g0041
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0002t0086g0221
a0001c0002t0100g0223
a0001c0002t0109g0222
a0001c0002t0125g0116
a0001c0002t0143g0226
a0001c0002t0149g0202
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0001c0011t0051g0091
a0001c0014t0135g0166
a0001c0015t0126g0149
a0001c0016t0052g0099
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0017g0179
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0018g0231
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0073g0068
a0002c0003t0085g0184
a0002c0003t0089g0175
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0099g0192
a0002c0003t0104g0208
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0145g0187
a0002c0003t0146g0170
a0002c0003t0148g0174
a0002c0003t0150g0191
a0002c0010t0038g0156
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
a0004c0008t0035g0203
a0004c0008t0036g0207
a0004c0008t0103g0227
a0004c0008t0124g0229
a0004c0008t0133g0232
a0004c0008t0142g0228
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
a0006c0012t0129g0140
a0007c0013t0132g0163
 230 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(227): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00621.hp1
HG00621.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02056.hp1
HG02056.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18955.hp1
NA18955.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18967.hp1
NA18967.hp2
NA18973.hp1
NA18973.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18990.hp1
NA18990.hp2
NA18994.hp1
NA18994.hp2
NA19000.hp1
NA19000.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19087.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.285+3591dupA
c.285+3591dupA
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 693826
chr17:693923 T
T
 C
C
 5 a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
others(2): Show 
a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0005t0080g0092
a0001c0011t0051g0091
 5 HG01074.hp2
NA18747.hp2
NA18955.hp2
others(2): Show 
HG01074.hp2
NA18747.hp2
NA18955.hp2
NA18984.hp2
NA19064.hp2
 intron_variant MODIFIER c.285+3495A>G
c.285+3495A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 693923
chr17:694070 T
T
 C
C
 39 a0001c0002t0125g0116
a0002c0003t0008g0180
a0002c0003t0008g0182
others(36): Show 
a0001c0002t0125g0116
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0017g0179
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0018g0231
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0085g0184
a0002c0003t0089g0175
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0099g0192
a0002c0003t0104g0208
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0145g0187
a0002c0003t0146g0170
a0002c0003t0148g0174
a0002c0003t0150g0191
a0004c0008t0036g0207
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
 39 HG00323.hp2
HG00423.hp1
HG00438.hp2
others(36): Show 
HG00323.hp2
HG00423.hp1
HG00438.hp2
HG00621.hp1
HG01070.hp2
HG01071.hp1
HG01099.hp1
HG01167.hp1
HG01928.hp1
HG01981.hp1
HG02040.hp1
HG02056.hp1
HG02074.hp2
HG02083.hp1
HG02129.hp1
HG02132.hp1
HG02293.hp1
HG02300.hp1
HG02738.hp2
HG03491.hp2
HG03831.hp1
HG03942.hp1
HG04199.hp1
NA18612.hp1
NA18946.hp1
NA18955.hp1
NA18957.hp2
NA18979.hp2
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA19000.hp1
NA19007.hp2
NA19010.hp1
NA19066.hp2
NA19074.hp1
NA19080.hp2
NA19084.hp2
NA19090.hp2
 intron_variant MODIFIER c.285+3348A>G
c.285+3348A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 694070
chr17:694196 G
G
 A
A
 4 a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0088g0152
others(1): Show 
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0088g0152
a0001c0001t0097g0199
 4 HG01884.hp1
HG02622.hp2
HG02922.hp2
others(1): Show 
HG01884.hp1
HG02622.hp2
HG02922.hp2
HG03139.hp2
 intron_variant MODIFIER c.285+3222C>T
c.285+3222C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 694196
chr17:694767 G
G
 A
A
 42 a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
others(39): Show 
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0002c0003t0073g0068
 42 HG00140.hp2
HG00280.hp1
HG00323.hp1
others(39): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp1
HG00621.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01106.hp1
HG01167.hp2
HG01168.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01361.hp1
HG01496.hp1
HG01978.hp1
HG02135.hp1
HG02738.hp1
HG02886.hp1
HG04204.hp2
NA18906.hp2
NA18940.hp1
NA18944.hp1
NA18946.hp2
NA18948.hp2
NA18959.hp2
NA18960.hp1
NA18962.hp2
NA18967.hp1
NA18973.hp1
NA18977.hp2
NA18979.hp1
NA19007.hp1
NA19009.hp1
NA19065.hp1
NA19070.hp1
NA19079.hp1
NA19084.hp1
NA19090.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.285+2651C>T
c.285+2651C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 694767
chr17:694817 G
G
 C
C
 1 a0001c0001t0108g0148
a0001c0001t0108g0148
 1 HG01192.hp1
HG01192.hp1
 intron_variant MODIFIER c.285+2601C>G
c.285+2601C>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 694817
chr17:694826 G
G
 A
A
 1 a0002c0003t0099g0192
a0002c0003t0099g0192
 1 HG00438.hp2
HG00438.hp2
 intron_variant MODIFIER c.285+2592C>T
c.285+2592C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 694826
chr17:694913 G
G
 A
A
 1 a0001c0006t0041g0001
a0001c0006t0041g0001
 1 HG01175.hp1
HG01175.hp1
 intron_variant MODIFIER c.285+2505C>T
c.285+2505C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 694913
chr17:695000 T
T
 C
C
 108 a0001c0001t0117g0230
a0001c0002t0001g0045
a0001c0002t0001g0056
others(105): Show 
a0001c0001t0117g0230
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0001g0094
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0065g0093
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0077g0095
a0001c0002t0078g0041
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0001c0011t0051g0091
a0001c0016t0052g0099
a0002c0003t0073g0068
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
 108 HG00099.hp2
HG00140.hp2
HG00280.hp1
others(105): Show 
HG00099.hp2
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00621.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01106.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01255.hp1
HG01256.hp1
HG01257.hp2
HG01258.hp1
HG01361.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01928.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp2
HG02074.hp1
HG02109.hp1
HG02135.hp1
HG02135.hp2
HG02293.hp2
HG02300.hp2
HG02602.hp1
HG02738.hp1
HG02886.hp1
HG03491.hp1
HG03492.hp1
HG03516.hp2
HG03688.hp1
HG03831.hp2
HG04204.hp2
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18944.hp1
NA18945.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp2
NA18955.hp2
NA18957.hp1
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18967.hp1
NA18973.hp1
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18979.hp1
NA18984.hp1
NA18984.hp2
NA18986.hp2
NA18990.hp1
NA18994.hp1
NA18994.hp2
NA19000.hp2
NA19007.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp2
NA19060.hp1
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19068.hp1
NA19070.hp1
NA19079.hp1
NA19080.hp1
NA19081.hp1
NA19084.hp1
NA19087.hp1
NA19087.hp2
NA19090.hp1
NA19091.hp1
NA19091.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.285+2418A>G
c.285+2418A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 695000
chr17:695071 T
T
 G
G
 63 a0001c0001t0117g0230
a0001c0002t0001g0045
a0001c0002t0001g0056
others(60): Show 
a0001c0001t0117g0230
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0001c0016t0052g0099
a0002c0003t0073g0068
 63 HG00099.hp2
HG00140.hp2
HG00280.hp1
others(60): Show 
HG00099.hp2
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00621.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01106.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01361.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp2
HG01928.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp2
HG02135.hp1
HG02293.hp2
HG02300.hp2
HG02738.hp1
HG02886.hp1
HG03491.hp1
HG03492.hp1
HG03688.hp1
HG04204.hp2
NA18906.hp2
NA18940.hp1
NA18944.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18959.hp2
NA18960.hp1
NA18962.hp2
NA18967.hp1
NA18973.hp1
NA18977.hp2
NA18979.hp1
NA19007.hp1
NA19009.hp1
NA19065.hp1
NA19070.hp1
NA19079.hp1
NA19084.hp1
NA19090.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.285+2347A>C
c.285+2347A>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 695071
chr17:695114 T
T
 C
C
 1 a0001c0001t0084g0046
a0001c0001t0084g0046
 1 HG03516.hp1
HG03516.hp1
 intron_variant MODIFIER c.285+2304A>G
c.285+2304A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 695114
chr17:695322 T
T
 C
C
 1 a0003c0004t0004g0019
a0003c0004t0004g0019
 1 HG02074.hp1
HG02074.hp1
 intron_variant MODIFIER c.285+2096A>G
c.285+2096A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 695322
chr17:695386 A
A
 C
C
 1 a0003c0004t0004g0019
a0003c0004t0004g0019
 1 HG02074.hp1
HG02074.hp1
 intron_variant MODIFIER c.285+2032T>G
c.285+2032T>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 695386
chr17:695479 T
T
 C
C
 1 a0001c0002t0050g0049
a0001c0002t0050g0049
 1 HG02280.hp1
HG02280.hp1
 intron_variant MODIFIER c.285+1939A>G
c.285+1939A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 695479
chr17:695533 T
T
 A
A
 1 a0002c0003t0017g0179
a0002c0003t0017g0179
 1 NA18957.hp2
NA18957.hp2
 intron_variant MODIFIER c.285+1885A>T
c.285+1885A>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 695533
chr17:695550 T
T
 C
C
 5 a0001c0001t0032g0114
a0001c0001t0095g0145
a0001c0001t0096g0146
others(2): Show 
a0001c0001t0032g0114
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0098g0147
a0001c0001t0108g0148
 5 HG01192.hp1
HG02818.hp2
HG02895.hp1
others(2): Show 
HG01192.hp1
HG02818.hp2
HG02895.hp1
HG03225.hp2
NA20300.hp2
 intron_variant MODIFIER c.285+1868A>G
c.285+1868A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 695550
chr17:695610 C
C
 T
T
 1 a0001c0001t0113g0122
a0001c0001t0113g0122
 1 HG00741.hp2
HG00741.hp2
 intron_variant MODIFIER c.285+1808G>A
c.285+1808G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 695610
chr17:695714 A
A
 G
G
 1 a0001c0002t0078g0041
a0001c0002t0078g0041
 1 HG03516.hp2
HG03516.hp2
 intron_variant MODIFIER c.285+1704T>C
c.285+1704T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 695714
chr17:695822 G
G
 A
A
 1 a0002c0003t0017g0179
a0002c0003t0017g0179
 1 NA18957.hp2
NA18957.hp2
 intron_variant MODIFIER c.285+1596C>T
c.285+1596C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 695822
chr17:696104 C
C
 G
G
 9 a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
others(6): Show 
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
 9 HG02135.hp2
HG02602.hp1
NA18747.hp1
others(6): Show 
HG02135.hp2
HG02602.hp1
NA18747.hp1
NA18960.hp2
NA18994.hp2
NA19000.hp2
NA19010.hp2
NA19087.hp1
NA19091.hp1
 intron_variant MODIFIER c.285+1314G>C
c.285+1314G>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 696104
chr17:696359 C
C
 G
G
 9 a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
others(6): Show 
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
 9 HG02135.hp2
HG02602.hp1
NA18747.hp1
others(6): Show 
HG02135.hp2
HG02602.hp1
NA18747.hp1
NA18960.hp2
NA18994.hp2
NA19000.hp2
NA19010.hp2
NA19087.hp1
NA19091.hp1
 intron_variant MODIFIER c.285+1059G>C
c.285+1059G>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 696359
chr17:696432 T
T
 C
C
 1 a0001c0014t0135g0166
a0001c0014t0135g0166
 1 HG02572.hp1
HG02572.hp1
 intron_variant MODIFIER c.285+986A>G
c.285+986A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 696432
chr17:696571 A
A
 G
G
 80 a0001c0001t0117g0230
a0001c0002t0001g0045
a0001c0002t0001g0056
others(77): Show 
a0001c0001t0117g0230
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0001g0094
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0050g0049
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0065g0093
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0077g0095
a0001c0002t0078g0041
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0001c0011t0051g0091
a0001c0016t0052g0099
a0002c0003t0073g0068
a0002c0003t0085g0184
 80 HG00099.hp2
HG00140.hp2
HG00280.hp1
others(77): Show 
HG00099.hp2
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00621.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01106.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01361.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp2
HG01928.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp2
HG02135.hp1
HG02135.hp2
HG02280.hp1
HG02293.hp2
HG02300.hp2
HG02602.hp1
HG02738.hp1
HG02886.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03516.hp2
HG03688.hp1
HG04204.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp2
NA18940.hp1
NA18944.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18955.hp2
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18962.hp2
NA18967.hp1
NA18973.hp1
NA18977.hp2
NA18979.hp1
NA18984.hp2
NA18994.hp2
NA19000.hp2
NA19007.hp1
NA19009.hp1
NA19010.hp2
NA19064.hp2
NA19065.hp1
NA19070.hp1
NA19079.hp1
NA19084.hp1
NA19087.hp1
NA19090.hp1
NA19091.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.285+847T>C
c.285+847T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 696571
chr17:696684 A
A
 G
G
 21 a0001c0001t0117g0230
a0001c0006t0001g0113
a0001c0006t0021g0100
others(18): Show 
a0001c0001t0117g0230
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0001c0016t0052g0099
 21 HG00099.hp2
HG00280.hp2
HG01081.hp2
others(18): Show 
HG00099.hp2
HG00280.hp2
HG01081.hp2
HG01099.hp2
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp2
HG01928.hp2
HG01978.hp2
HG01981.hp2
HG02293.hp2
HG02300.hp2
HG03491.hp1
HG03492.hp1
HG03688.hp1
NA18948.hp1
 intron_variant MODIFIER c.285+734T>C
c.285+734T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 696684
chr17:696744 A
A
 G
G
 3 a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0106g0117
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0106g0117
 3 HG01884.hp2
HG02109.hp2
HG02280.hp2
HG01884.hp2
HG02109.hp2
HG02280.hp2
 intron_variant MODIFIER c.285+674T>C
c.285+674T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 696744
chr17:696758 C
C
 T
T
 1 a0001c0001t0002g0137
a0001c0001t0002g0137
 1 NA19009.hp2
NA19009.hp2
 intron_variant MODIFIER c.285+660G>A
c.285+660G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 696758
chr17:696791 C
C
 CT
CT
 163 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(160): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0017g0158
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0032g0114
a0001c0001t0032g0204
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0034g0126
a0001c0001t0034g0162
a0001c0001t0084g0046
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0098g0147
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0108g0148
a0001c0001t0110g0127
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0122g0160
a0001c0001t0123g0123
a0001c0001t0127g0159
a0001c0001t0128g0132
a0001c0001t0138g0161
a0001c0001t0141g0165
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0001g0094
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0017g0225
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0038g0224
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0058g0052
a0001c0002t0065g0093
a0001c0002t0066g0070
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0077g0095
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0002t0086g0221
a0001c0002t0100g0223
a0001c0002t0125g0116
a0001c0002t0143g0226
a0001c0002t0149g0202
a0001c0005t0080g0092
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0074g0097
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0001c0014t0135g0166
a0001c0015t0126g0149
a0001c0016t0052g0099
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0017g0179
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0018g0231
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0073g0068
a0002c0003t0085g0184
a0002c0003t0089g0175
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0099g0192
a0002c0003t0104g0208
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0145g0187
a0002c0003t0148g0174
a0002c0003t0150g0191
a0002c0010t0038g0156
a0004c0008t0035g0203
a0004c0008t0036g0207
a0004c0008t0103g0227
a0004c0008t0124g0229
a0004c0008t0133g0232
a0004c0008t0142g0228
a0005c0009t0137g0189
a0005c0009t0147g0177
a0006c0012t0129g0140
a0007c0013t0132g0163
 163 HG00099.hp2
HG00140.hp1
HG00140.hp2
others(160): Show 
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp2
HG00621.hp1
HG00621.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01361.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp2
HG01884.hp2
HG01891.hp1
HG01928.hp1
HG01928.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02056.hp1
HG02056.hp2
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02145.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02572.hp1
HG02602.hp2
HG02723.hp1
HG02738.hp1
HG02738.hp2
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG03225.hp1
HG03225.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
NA18612.hp1
NA18747.hp2
NA18940.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp2
NA18946.hp2
NA18948.hp2
NA18950.hp1
NA18955.hp1
NA18955.hp2
NA18957.hp2
NA18959.hp2
NA18960.hp1
NA18961.hp1
NA18962.hp2
NA18967.hp1
NA18973.hp1
NA18973.hp2
NA18977.hp2
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp2
NA18986.hp1
NA18987.hp1
NA18987.hp2
NA18990.hp2
NA19000.hp1
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19011.hp1
NA19060.hp2
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19080.hp2
NA19081.hp2
NA19084.hp1
NA19084.hp2
NA19090.hp1
NA20129.hp1
NA20300.hp2
NA20805.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.285+626dupA
c.285+626dupA
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 696791
chr17:696791 C
C
 CTT
CTT
 46 a0001c0001t0016g0118
a0001c0001t0028g0196
a0001c0001t0028g0197
others(43): Show 
a0001c0001t0016g0118
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0097g0199
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0105g0201
a0001c0001t0134g0154
a0001c0002t0022g0085
a0001c0002t0035g0219
a0001c0002t0050g0049
a0001c0002t0055g0084
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
 46 HG00438.hp1
HG01109.hp2
HG01257.hp2
others(43): Show 
HG00438.hp1
HG01109.hp2
HG01257.hp2
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01891.hp2
HG02074.hp1
HG02109.hp1
HG02280.hp1
HG02572.hp2
HG02622.hp1
HG02622.hp2
HG02723.hp2
HG02818.hp1
HG02922.hp2
HG03139.hp1
HG03139.hp2
HG03831.hp2
NA18612.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18945.hp1
NA18957.hp1
NA18959.hp1
NA18961.hp2
NA18962.hp1
NA18967.hp2
NA18977.hp1
NA18978.hp1
NA18984.hp1
NA18986.hp2
NA18990.hp1
NA18994.hp1
NA19011.hp2
NA19060.hp1
NA19064.hp1
NA19068.hp1
NA19080.hp1
NA19081.hp1
NA19091.hp2
NA20129.hp2
NA20300.hp1
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.285+625_285+626dup
others(2): Show 
c.285+625_285+626dupAA
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 696791
chr17:696791 CTT
CTT
 C
C
 9 a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
others(6): Show 
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
 9 HG02135.hp2
HG02602.hp1
NA18747.hp1
others(6): Show 
HG02135.hp2
HG02602.hp1
NA18747.hp1
NA18960.hp2
NA18994.hp2
NA19000.hp2
NA19010.hp2
NA19087.hp1
NA19091.hp1
 intron_variant MODIFIER c.285+625_285+626del
others(2): Show 
c.285+625_285+626delAA
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 696791
chr17:696862 G
G
 A
A
 4 a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0005t0080g0092
others(1): Show 
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0005t0080g0092
a0001c0011t0051g0091
 4 HG01074.hp2
NA18955.hp2
NA18984.hp2
others(1): Show 
HG01074.hp2
NA18955.hp2
NA18984.hp2
NA19064.hp2
 intron_variant MODIFIER c.285+556C>T
c.285+556C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 696862
chr17:697017 C
C
 T
T
 36 a0001c0001t0117g0230
a0001c0002t0001g0094
a0001c0002t0065g0093
others(33): Show 
a0001c0001t0117g0230
a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0002t0078g0041
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0001c0011t0051g0091
a0001c0016t0052g0099
 36 HG00099.hp2
HG00280.hp2
HG01074.hp2
others(33): Show 
HG00099.hp2
HG00280.hp2
HG01074.hp2
HG01081.hp2
HG01099.hp2
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp2
HG01928.hp2
HG01978.hp2
HG01981.hp2
HG02135.hp2
HG02293.hp2
HG02300.hp2
HG02602.hp1
HG03491.hp1
HG03492.hp1
HG03516.hp2
HG03688.hp1
NA18747.hp1
NA18747.hp2
NA18948.hp1
NA18955.hp2
NA18960.hp2
NA18984.hp2
NA18994.hp2
NA19000.hp2
NA19010.hp2
NA19064.hp2
NA19087.hp1
NA19091.hp1
 intron_variant MODIFIER c.285+401G>A
c.285+401G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 697017
chr17:697262 C
C
 T
T
 63 a0001c0001t0117g0230
a0001c0002t0001g0045
a0001c0002t0001g0056
others(60): Show 
a0001c0001t0117g0230
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0001c0016t0052g0099
a0002c0003t0073g0068
 63 HG00099.hp2
HG00140.hp2
HG00280.hp1
others(60): Show 
HG00099.hp2
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00621.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01106.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01361.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp2
HG01928.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp2
HG02135.hp1
HG02293.hp2
HG02300.hp2
HG02738.hp1
HG02886.hp1
HG03491.hp1
HG03492.hp1
HG03688.hp1
HG04204.hp2
NA18906.hp2
NA18940.hp1
NA18944.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18959.hp2
NA18960.hp1
NA18962.hp2
NA18967.hp1
NA18973.hp1
NA18977.hp2
NA18979.hp1
NA19007.hp1
NA19009.hp1
NA19065.hp1
NA19070.hp1
NA19079.hp1
NA19084.hp1
NA19090.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.285+156G>A
c.285+156G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 4/21 chr17 697262
chr17:697495 A
A
 G
G
 40 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(37): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0032g0114
a0001c0001t0034g0126
a0001c0001t0069g0012
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0098g0147
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0108g0148
a0001c0001t0110g0127
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0123g0123
a0001c0001t0128g0132
a0002c0003t0148g0174
a0006c0012t0129g0140
 40 HG00423.hp2
HG00741.hp2
HG01192.hp1
others(37): Show 
HG00423.hp2
HG00741.hp2
HG01192.hp1
HG01255.hp2
HG01256.hp2
HG01361.hp2
HG01884.hp2
HG02040.hp2
HG02056.hp2
HG02083.hp2
HG02109.hp2
HG02129.hp2
HG02132.hp2
HG02280.hp2
HG02602.hp2
HG02818.hp2
HG02895.hp1
HG03225.hp2
HG03492.hp2
HG03688.hp2
HG04184.hp2
HG04199.hp2
NA18940.hp2
NA18945.hp2
NA18950.hp1
NA18961.hp1
NA18967.hp2
NA18978.hp2
NA18979.hp2
NA18983.hp2
NA18987.hp2
NA19009.hp2
NA19060.hp2
NA19065.hp2
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19079.hp2
NA19081.hp2
NA20300.hp2
 intron_variant MODIFIER c.219-11T>C
c.219-11T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 3/21 chr17 697495
chr17:697665 T
T
 C
C
 10 a0001c0002t0078g0041
a0001c0005t0010g0008
a0001c0005t0019g0006
others(7): Show 
a0001c0002t0078g0041
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
 10 HG02135.hp2
HG02602.hp1
HG03516.hp2
others(7): Show 
HG02135.hp2
HG02602.hp1
HG03516.hp2
NA18747.hp1
NA18960.hp2
NA18994.hp2
NA19000.hp2
NA19010.hp2
NA19087.hp1
NA19091.hp1
 intron_variant MODIFIER c.219-181A>G
c.219-181A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 3/21 chr17 697665
chr17:697714 T
T
 C
C
 5 a0001c0002t0003g0072
a0001c0002t0013g0083
a0001c0002t0024g0073
others(2): Show 
a0001c0002t0003g0072
a0001c0002t0013g0083
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0079g0086
 5 HG01081.hp1
HG01106.hp1
HG01361.hp1
others(2): Show 
HG01081.hp1
HG01106.hp1
HG01361.hp1
HG01496.hp1
NA20805.hp2
 intron_variant MODIFIER c.219-230A>G
c.219-230A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 3/21 chr17 697714
chr17:697778 C
C
 A
A
 230 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(227): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0017g0158
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0032g0114
a0001c0001t0032g0204
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0034g0126
a0001c0001t0034g0162
a0001c0001t0069g0012
a0001c0001t0084g0046
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0097g0199
a0001c0001t0098g0147
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0105g0201
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0108g0148
a0001c0001t0110g0127
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0118g0195
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0122g0160
a0001c0001t0123g0123
a0001c0001t0127g0159
a0001c0001t0128g0132
a0001c0001t0134g0154
a0001c0001t0138g0161
a0001c0001t0141g0165
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0001g0094
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0017g0225
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0035g0219
a0001c0002t0038g0224
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0050g0049
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0065g0093
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0077g0095
a0001c0002t0078g0041
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0002t0086g0221
a0001c0002t0100g0223
a0001c0002t0109g0222
a0001c0002t0125g0116
a0001c0002t0143g0226
a0001c0002t0149g0202
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0001c0011t0051g0091
a0001c0014t0135g0166
a0001c0015t0126g0149
a0001c0016t0052g0099
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0017g0179
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0018g0231
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0073g0068
a0002c0003t0085g0184
a0002c0003t0089g0175
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0099g0192
a0002c0003t0104g0208
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0145g0187
a0002c0003t0146g0170
a0002c0003t0148g0174
a0002c0003t0150g0191
a0002c0010t0038g0156
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
a0004c0008t0035g0203
a0004c0008t0036g0207
a0004c0008t0103g0227
a0004c0008t0124g0229
a0004c0008t0133g0232
a0004c0008t0142g0228
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
a0006c0012t0129g0140
a0007c0013t0132g0163
 230 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(227): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00621.hp1
HG00621.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02056.hp1
HG02056.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18955.hp1
NA18955.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18967.hp1
NA18967.hp2
NA18973.hp1
NA18973.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18990.hp1
NA18990.hp2
NA18994.hp1
NA18994.hp2
NA19000.hp1
NA19000.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19087.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.219-294G>T
c.219-294G>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 3/21 chr17 697778
chr17:697903 G
G
 C
C
 1 a0001c0001t0108g0148
a0001c0001t0108g0148
 1 HG01192.hp1
HG01192.hp1
 intron_variant MODIFIER c.219-419C>G
c.219-419C>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 3/21 chr17 697903
chr17:697970 C
C
 T
T
 1 a0001c0002t0109g0222
a0001c0002t0109g0222
 1 HG00099.hp1
HG00099.hp1
 intron_variant MODIFIER c.219-486G>A
c.219-486G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 3/21 chr17 697970
chr17:698203 C
C
 G
G
 2 a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0030g0119
a0001c0001t0030g0120
 2 HG01884.hp2
HG02280.hp2
HG01884.hp2
HG02280.hp2
 intron_variant MODIFIER c.219-719G>C
c.219-719G>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 3/21 chr17 698203
chr17:698255 T
T
 A
A
 15 a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
others(12): Show 
a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0002t0078g0041
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0011t0051g0091
 15 HG01074.hp2
HG02135.hp2
HG02602.hp1
others(12): Show 
HG01074.hp2
HG02135.hp2
HG02602.hp1
HG03516.hp2
NA18747.hp1
NA18747.hp2
NA18955.hp2
NA18960.hp2
NA18984.hp2
NA18994.hp2
NA19000.hp2
NA19010.hp2
NA19064.hp2
NA19087.hp1
NA19091.hp1
 intron_variant MODIFIER c.219-771A>T
c.219-771A>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 3/21 chr17 698255
chr17:698432 C
C
 CA
CA
 6 a0001c0001t0002g0137
a0001c0002t0076g0050
a0001c0007t0062g0104
others(3): Show 
a0001c0001t0002g0137
a0001c0002t0076g0050
a0001c0007t0062g0104
a0001c0015t0126g0149
a0003c0004t0047g0017
a0006c0012t0129g0140
 6 HG02293.hp2
HG02723.hp1
NA18973.hp1
others(3): Show 
HG02293.hp2
HG02723.hp1
NA18973.hp1
NA18978.hp2
NA18994.hp1
NA19009.hp2
 intron_variant MODIFIER c.218+898dupT
c.218+898dupT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 3/21 chr17 698432
chr17:698475 C
C
 G
G
 1 a0001c0001t0108g0148
a0001c0001t0108g0148
 1 HG01192.hp1
HG01192.hp1
 intron_variant MODIFIER c.218+856G>C
c.218+856G>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 3/21 chr17 698475
chr17:698576 G
G
 A
A
 13 a0001c0002t0017g0225
a0001c0002t0035g0219
a0001c0002t0038g0224
others(10): Show 
a0001c0002t0017g0225
a0001c0002t0035g0219
a0001c0002t0038g0224
a0001c0002t0100g0223
a0001c0002t0109g0222
a0001c0002t0125g0116
a0001c0002t0143g0226
a0001c0002t0149g0202
a0004c0008t0035g0203
a0004c0008t0103g0227
a0004c0008t0124g0229
a0004c0008t0133g0232
a0004c0008t0142g0228
 13 HG00099.hp1
HG00140.hp1
HG00438.hp1
others(10): Show 
HG00099.hp1
HG00140.hp1
HG00438.hp1
HG01346.hp1
HG01516.hp1
HG03942.hp2
HG04184.hp1
NA18944.hp2
NA18973.hp2
NA18990.hp2
NA19007.hp2
NA19011.hp1
NA19066.hp1
 intron_variant MODIFIER c.218+755C>T
c.218+755C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 3/21 chr17 698576
chr17:698692 G
G
 A
A
 15 a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
others(12): Show 
a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0002t0078g0041
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0011t0051g0091
 15 HG01074.hp2
HG02135.hp2
HG02602.hp1
others(12): Show 
HG01074.hp2
HG02135.hp2
HG02602.hp1
HG03516.hp2
NA18747.hp1
NA18747.hp2
NA18955.hp2
NA18960.hp2
NA18984.hp2
NA18994.hp2
NA19000.hp2
NA19010.hp2
NA19064.hp2
NA19087.hp1
NA19091.hp1
 intron_variant MODIFIER c.218+639C>T
c.218+639C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 3/21 chr17 698692
chr17:698923 G
G
 T
T
 15 a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
others(12): Show 
a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0002t0078g0041
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0011t0051g0091
 15 HG01074.hp2
HG02135.hp2
HG02602.hp1
others(12): Show 
HG01074.hp2
HG02135.hp2
HG02602.hp1
HG03516.hp2
NA18747.hp1
NA18747.hp2
NA18955.hp2
NA18960.hp2
NA18984.hp2
NA18994.hp2
NA19000.hp2
NA19010.hp2
NA19064.hp2
NA19087.hp1
NA19091.hp1
 intron_variant MODIFIER c.218+408C>A
c.218+408C>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 3/21 chr17 698923
chr17:698933 G
G
 A
A
 23 a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
others(20): Show 
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
 23 HG02074.hp1
HG03831.hp2
NA18612.hp2
others(20): Show 
HG02074.hp1
HG03831.hp2
NA18612.hp2
NA18945.hp1
NA18950.hp2
NA18957.hp1
NA18959.hp1
NA18961.hp2
NA18962.hp1
NA18977.hp1
NA18978.hp1
NA18984.hp1
NA18986.hp2
NA18990.hp1
NA18994.hp1
NA19011.hp2
NA19060.hp1
NA19064.hp1
NA19068.hp1
NA19080.hp1
NA19081.hp1
NA19087.hp2
NA19091.hp2
 intron_variant MODIFIER c.218+398C>T
c.218+398C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 3/21 chr17 698933
chr17:699021 G
G
 T
T
 63 a0001c0001t0117g0230
a0001c0002t0001g0045
a0001c0002t0001g0056
others(60): Show 
a0001c0001t0117g0230
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0001c0016t0052g0099
a0002c0003t0073g0068
 63 HG00099.hp2
HG00140.hp2
HG00280.hp1
others(60): Show 
HG00099.hp2
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00621.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01106.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01361.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp2
HG01928.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp2
HG02135.hp1
HG02293.hp2
HG02300.hp2
HG02738.hp1
HG02886.hp1
HG03491.hp1
HG03492.hp1
HG03688.hp1
HG04204.hp2
NA18906.hp2
NA18940.hp1
NA18944.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18959.hp2
NA18960.hp1
NA18962.hp2
NA18967.hp1
NA18973.hp1
NA18977.hp2
NA18979.hp1
NA19007.hp1
NA19009.hp1
NA19065.hp1
NA19070.hp1
NA19079.hp1
NA19084.hp1
NA19090.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.218+310C>A
c.218+310C>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 3/21 chr17 699021
chr17:699172 A
A
 G
G
 10 a0001c0002t0078g0041
a0001c0005t0010g0008
a0001c0005t0019g0006
others(7): Show 
a0001c0002t0078g0041
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
 10 HG02135.hp2
HG02602.hp1
HG03516.hp2
others(7): Show 
HG02135.hp2
HG02602.hp1
HG03516.hp2
NA18747.hp1
NA18960.hp2
NA18994.hp2
NA19000.hp2
NA19010.hp2
NA19087.hp1
NA19091.hp1
 intron_variant MODIFIER c.218+159T>C
c.218+159T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 3/21 chr17 699172
chr17:699229 G
G
 C
C
 63 a0001c0001t0117g0230
a0001c0002t0001g0045
a0001c0002t0001g0056
others(60): Show 
a0001c0001t0117g0230
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0001c0016t0052g0099
a0002c0003t0073g0068
 63 HG00099.hp2
HG00140.hp2
HG00280.hp1
others(60): Show 
HG00099.hp2
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00621.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01106.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01361.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp2
HG01928.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp2
HG02135.hp1
HG02293.hp2
HG02300.hp2
HG02738.hp1
HG02886.hp1
HG03491.hp1
HG03492.hp1
HG03688.hp1
HG04204.hp2
NA18906.hp2
NA18940.hp1
NA18944.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18959.hp2
NA18960.hp1
NA18962.hp2
NA18967.hp1
NA18973.hp1
NA18977.hp2
NA18979.hp1
NA19007.hp1
NA19009.hp1
NA19065.hp1
NA19070.hp1
NA19079.hp1
NA19084.hp1
NA19090.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.218+102C>G
c.218+102C>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 3/21 chr17 699229
chr17:699638 G
G
 A
A
 10 a0001c0002t0078g0041
a0001c0005t0010g0008
a0001c0005t0019g0006
others(7): Show 
a0001c0002t0078g0041
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
 10 HG02135.hp2
HG02602.hp1
HG03516.hp2
others(7): Show 
HG02135.hp2
HG02602.hp1
HG03516.hp2
NA18747.hp1
NA18960.hp2
NA18994.hp2
NA19000.hp2
NA19010.hp2
NA19087.hp1
NA19091.hp1
 intron_variant MODIFIER c.169-258C>T
c.169-258C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 2/21 chr17 699638
chr17:699786 A
A
 G
G
 1 a0001c0001t0032g0204
a0001c0001t0032g0204
 1 HG02922.hp1
HG02922.hp1
 intron_variant MODIFIER c.169-406T>C
c.169-406T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 2/21 chr17 699786
chr17:699812 A
A
 G
G
 63 a0001c0001t0117g0230
a0001c0002t0001g0045
a0001c0002t0001g0056
others(60): Show 
a0001c0001t0117g0230
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0001c0016t0052g0099
a0002c0003t0073g0068
 63 HG00099.hp2
HG00140.hp2
HG00280.hp1
others(60): Show 
HG00099.hp2
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00621.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01106.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01361.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp2
HG01928.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp2
HG02135.hp1
HG02293.hp2
HG02300.hp2
HG02738.hp1
HG02886.hp1
HG03491.hp1
HG03492.hp1
HG03688.hp1
HG04204.hp2
NA18906.hp2
NA18940.hp1
NA18944.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18959.hp2
NA18960.hp1
NA18962.hp2
NA18967.hp1
NA18973.hp1
NA18977.hp2
NA18979.hp1
NA19007.hp1
NA19009.hp1
NA19065.hp1
NA19070.hp1
NA19079.hp1
NA19084.hp1
NA19090.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.169-432T>C
c.169-432T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 2/21 chr17 699812
chr17:699856 G
G
 A
A
 3 a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0106g0117
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0106g0117
 3 HG01884.hp2
HG02109.hp2
HG02280.hp2
HG01884.hp2
HG02109.hp2
HG02280.hp2
 intron_variant MODIFIER c.169-476C>T
c.169-476C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 2/21 chr17 699856
chr17:699857 A
A
 G
G
 1 a0001c0001t0002g0121
a0001c0001t0002g0121
 1 NA18983.hp2
NA18983.hp2
 intron_variant MODIFIER c.169-477T>C
c.169-477T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 2/21 chr17 699857
chr17:699936 G
G
 A
A
 1 a0001c0001t0084g0046
a0001c0001t0084g0046
 1 HG03516.hp1
HG03516.hp1
 intron_variant MODIFIER c.169-556C>T
c.169-556C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 2/21 chr17 699936
chr17:699960 A
A
 C
C
 1 a0001c0002t0049g0048
a0001c0002t0049g0048
 1 HG02145.hp2
HG02145.hp2
 intron_variant MODIFIER c.169-580T>G
c.169-580T>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 2/21 chr17 699960
chr17:700028 C
C
 T
T
 14 a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
others(11): Show 
a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0011t0051g0091
 14 HG01074.hp2
HG02135.hp2
HG02602.hp1
others(11): Show 
HG01074.hp2
HG02135.hp2
HG02602.hp1
NA18747.hp1
NA18747.hp2
NA18955.hp2
NA18960.hp2
NA18984.hp2
NA18994.hp2
NA19000.hp2
NA19010.hp2
NA19064.hp2
NA19087.hp1
NA19091.hp1
 intron_variant MODIFIER c.169-648G>A
c.169-648G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 2/21 chr17 700028
chr17:700110 T
T
 C
C
 2 a0002c0003t0009g0218
a0002c0003t0027g0169
a0002c0003t0009g0218
a0002c0003t0027g0169
 2 HG02056.hp1
NA19000.hp1
HG02056.hp1
NA19000.hp1
 intron_variant MODIFIER c.169-730A>G
c.169-730A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 2/21 chr17 700110
chr17:700130 T
T
 A
A
 5 a0001c0001t0002g0139
a0001c0001t0016g0118
a0001c0001t0116g0138
others(2): Show 
a0001c0001t0002g0139
a0001c0001t0016g0118
a0001c0001t0116g0138
a0001c0001t0119g0144
a0006c0012t0129g0140
 5 NA18945.hp2
NA18967.hp2
NA18978.hp2
others(2): Show 
NA18945.hp2
NA18967.hp2
NA18978.hp2
NA18987.hp2
NA19070.hp2
 intron_variant MODIFIER c.169-750A>T
c.169-750A>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 2/21 chr17 700130
chr17:700166 A
A
 C
C
 12 a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
others(9): Show 
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0186
a0002c0003t0009g0218
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0104g0208
a0002c0003t0150g0191
 12 HG01099.hp1
HG01981.hp1
HG02040.hp1
others(9): Show 
HG01099.hp1
HG01981.hp1
HG02040.hp1
HG02056.hp1
HG02083.hp1
HG02293.hp1
HG02300.hp1
NA18612.hp1
NA18987.hp1
NA19000.hp1
NA19010.hp1
NA19074.hp1
 intron_variant MODIFIER c.169-786T>G
c.169-786T>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 2/21 chr17 700166
chr17:700371 C
C
 T
T
 14 a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
others(11): Show 
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0097g0199
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0105g0201
a0001c0001t0118g0195
a0001c0001t0134g0154
 14 HG01109.hp2
HG01346.hp2
HG01884.hp1
others(11): Show 
HG01109.hp2
HG01346.hp2
HG01884.hp1
HG01891.hp2
HG02572.hp2
HG02622.hp1
HG02622.hp2
HG02723.hp2
HG02818.hp1
HG02922.hp2
HG03139.hp1
HG03139.hp2
NA20129.hp2
NA20300.hp1
 intron_variant MODIFIER c.169-991G>A
c.169-991G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 2/21 chr17 700371
chr17:700602 G
G
 A
A
 1 a0004c0008t0035g0203
a0004c0008t0035g0203
 1 HG04184.hp1
HG04184.hp1
 intron_variant MODIFIER c.169-1222C>T
c.169-1222C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 2/21 chr17 700602
chr17:700694 T
T
 C
C
 10 a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0082
others(7): Show 
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0025g0075
a0001c0002t0067g0076
 10 HG01070.hp1
HG01071.hp2
HG01074.hp1
others(7): Show 
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01167.hp2
HG01168.hp1
HG01255.hp1
HG01978.hp1
HG02738.hp1
HG02886.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.169-1314A>G
c.169-1314A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 2/21 chr17 700694
chr17:700711 C
C
 T
T
 19 a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
others(16): Show 
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0018g0231
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0085g0184
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0099g0192
a0002c0003t0104g0208
a0002c0003t0145g0187
a0002c0003t0150g0191
 19 HG00438.hp2
HG01099.hp1
HG01928.hp1
others(16): Show 
HG00438.hp2
HG01099.hp1
HG01928.hp1
HG01981.hp1
HG02040.hp1
HG02056.hp1
HG02083.hp1
HG02293.hp1
HG02300.hp1
HG03491.hp2
HG03942.hp1
HG04199.hp1
NA18612.hp1
NA18987.hp1
NA19000.hp1
NA19010.hp1
NA19074.hp1
NA19080.hp2
NA19084.hp2
 intron_variant MODIFIER c.169-1331G>A
c.169-1331G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 2/21 chr17 700711
chr17:701268 G
G
 A
A
 1 a0003c0004t0063g0034
a0003c0004t0063g0034
 1 NA19064.hp1
NA19064.hp1
 intron_variant MODIFIER c.169-1888C>T
c.169-1888C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 2/21 chr17 701268
chr17:701320 C
C
 CA
CA
 30 a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
others(27): Show 
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
 30 HG01257.hp2
HG01516.hp2
HG01517.hp1
others(27): Show 
HG01257.hp2
HG01516.hp2
HG01517.hp1
HG02074.hp1
HG02109.hp1
HG03831.hp2
NA18612.hp2
NA18906.hp1
NA18945.hp1
NA18950.hp2
NA18957.hp1
NA18959.hp1
NA18961.hp2
NA18962.hp1
NA18977.hp1
NA18978.hp1
NA18984.hp1
NA18986.hp2
NA18990.hp1
NA18994.hp1
NA19011.hp2
NA19060.hp1
NA19064.hp1
NA19068.hp1
NA19080.hp1
NA19081.hp1
NA19087.hp2
NA19091.hp2
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.169-1941dupT
c.169-1941dupT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 2/21 chr17 701320
chr17:701336 C
C
 T
T
 3 a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0134g0154
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0134g0154
 3 HG01891.hp2
NA20129.hp2
NA20300.hp1
HG01891.hp2
NA20129.hp2
NA20300.hp1
 intron_variant MODIFIER c.169-1956G>A
c.169-1956G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 2/21 chr17 701336
chr17:701446 C
C
 T
T
 1 a0001c0001t0084g0046
a0001c0001t0084g0046
 1 HG03516.hp1
HG03516.hp1
 intron_variant MODIFIER c.169-2066G>A
c.169-2066G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 2/21 chr17 701446
chr17:701666 G
G
 A
A
 1 a0001c0002t0078g0041
a0001c0002t0078g0041
 1 HG03516.hp2
HG03516.hp2
 intron_variant MODIFIER c.169-2286C>T
c.169-2286C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 2/21 chr17 701666
chr17:701752 C
C
 T
T
 30 a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
others(27): Show 
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
 30 HG01257.hp2
HG01516.hp2
HG01517.hp1
others(27): Show 
HG01257.hp2
HG01516.hp2
HG01517.hp1
HG02074.hp1
HG02109.hp1
HG03831.hp2
NA18612.hp2
NA18906.hp1
NA18945.hp1
NA18950.hp2
NA18957.hp1
NA18959.hp1
NA18961.hp2
NA18962.hp1
NA18977.hp1
NA18978.hp1
NA18984.hp1
NA18986.hp2
NA18990.hp1
NA18994.hp1
NA19011.hp2
NA19060.hp1
NA19064.hp1
NA19068.hp1
NA19080.hp1
NA19081.hp1
NA19087.hp2
NA19091.hp2
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.169-2372G>A
c.169-2372G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 2/21 chr17 701752
chr17:701811 C
C
 T
T
 1 a0001c0002t0078g0041
a0001c0002t0078g0041
 1 HG03516.hp2
HG03516.hp2
 intron_variant MODIFIER c.169-2431G>A
c.169-2431G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 2/21 chr17 701811
chr17:702213 G
G
 C
C
 39 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(36): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0032g0114
a0001c0001t0034g0126
a0001c0001t0069g0012
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0098g0147
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0108g0148
a0001c0001t0110g0127
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0123g0123
a0001c0001t0128g0132
a0006c0012t0129g0140
 39 HG00423.hp2
HG00741.hp2
HG01192.hp1
others(36): Show 
HG00423.hp2
HG00741.hp2
HG01192.hp1
HG01255.hp2
HG01256.hp2
HG01361.hp2
HG01884.hp2
HG02040.hp2
HG02056.hp2
HG02083.hp2
HG02109.hp2
HG02129.hp2
HG02132.hp2
HG02280.hp2
HG02602.hp2
HG02818.hp2
HG02895.hp1
HG03225.hp2
HG03492.hp2
HG03688.hp2
HG04184.hp2
HG04199.hp2
NA18940.hp2
NA18945.hp2
NA18950.hp1
NA18961.hp1
NA18967.hp2
NA18978.hp2
NA18983.hp2
NA18987.hp2
NA19009.hp2
NA19060.hp2
NA19065.hp2
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19079.hp2
NA19081.hp2
NA20300.hp2
 intron_variant MODIFIER c.169-2833C>G
c.169-2833C>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 2/21 chr17 702213
chr17:702215 A
A
 T
T
 39 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(36): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0032g0114
a0001c0001t0034g0126
a0001c0001t0069g0012
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0098g0147
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0108g0148
a0001c0001t0110g0127
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0123g0123
a0001c0001t0128g0132
a0006c0012t0129g0140
 39 HG00423.hp2
HG00741.hp2
HG01192.hp1
others(36): Show 
HG00423.hp2
HG00741.hp2
HG01192.hp1
HG01255.hp2
HG01256.hp2
HG01361.hp2
HG01884.hp2
HG02040.hp2
HG02056.hp2
HG02083.hp2
HG02109.hp2
HG02129.hp2
HG02132.hp2
HG02280.hp2
HG02602.hp2
HG02818.hp2
HG02895.hp1
HG03225.hp2
HG03492.hp2
HG03688.hp2
HG04184.hp2
HG04199.hp2
NA18940.hp2
NA18945.hp2
NA18950.hp1
NA18961.hp1
NA18967.hp2
NA18978.hp2
NA18983.hp2
NA18987.hp2
NA19009.hp2
NA19060.hp2
NA19065.hp2
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19079.hp2
NA19081.hp2
NA20300.hp2
 intron_variant MODIFIER c.169-2835T>A
c.169-2835T>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 2/21 chr17 702215
chr17:702491 G
G
 A
A
 3 a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
 3 NA18946.hp1
NA18955.hp1
NA19066.hp2
NA18946.hp1
NA18955.hp1
NA19066.hp2
 intron_variant MODIFIER c.169-3111C>T
c.169-3111C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 2/21 chr17 702491
chr17:702566 T
T
 A
A
 9 a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
others(6): Show 
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
 9 HG02135.hp2
HG02602.hp1
NA18747.hp1
others(6): Show 
HG02135.hp2
HG02602.hp1
NA18747.hp1
NA18960.hp2
NA18994.hp2
NA19000.hp2
NA19010.hp2
NA19087.hp1
NA19091.hp1
 intron_variant MODIFIER c.169-3186A>T
c.169-3186A>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 2/21 chr17 702566
chr17:702596 G
G
 A
A
 1 a0002c0003t0009g0186
a0002c0003t0009g0186
 1 HG02040.hp1
HG02040.hp1
 intron_variant MODIFIER c.169-3216C>T
c.169-3216C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 2/21 chr17 702596
chr17:702607 G
G
 A
A
 1 a0002c0003t0017g0179
a0002c0003t0017g0179
 1 NA18957.hp2
NA18957.hp2
 intron_variant MODIFIER c.169-3227C>T
c.169-3227C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 2/21 chr17 702607
chr17:702620 C
C
 T
T
 63 a0001c0001t0117g0230
a0001c0002t0001g0045
a0001c0002t0001g0056
others(60): Show 
a0001c0001t0117g0230
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0001c0016t0052g0099
a0002c0003t0073g0068
 63 HG00099.hp2
HG00140.hp2
HG00280.hp1
others(60): Show 
HG00099.hp2
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00621.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01106.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01361.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp2
HG01928.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp2
HG02135.hp1
HG02293.hp2
HG02300.hp2
HG02738.hp1
HG02886.hp1
HG03491.hp1
HG03492.hp1
HG03688.hp1
HG04204.hp2
NA18906.hp2
NA18940.hp1
NA18944.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18959.hp2
NA18960.hp1
NA18962.hp2
NA18967.hp1
NA18973.hp1
NA18977.hp2
NA18979.hp1
NA19007.hp1
NA19009.hp1
NA19065.hp1
NA19070.hp1
NA19079.hp1
NA19084.hp1
NA19090.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.169-3240G>A
c.169-3240G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 2/21 chr17 702620
chr17:702680 T
T
 TAAAAG
TAAAAG
 15 a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
others(12): Show 
a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0002t0078g0041
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0011t0051g0091
 15 HG01074.hp2
HG02135.hp2
HG02602.hp1
others(12): Show 
HG01074.hp2
HG02135.hp2
HG02602.hp1
HG03516.hp2
NA18747.hp1
NA18747.hp2
NA18955.hp2
NA18960.hp2
NA18984.hp2
NA18994.hp2
NA19000.hp2
NA19010.hp2
NA19064.hp2
NA19087.hp1
NA19091.hp1
 intron_variant MODIFIER c.169-3301_169-3300i
others(7): Show 
c.169-3301_169-3300insCTTTT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 2/21 chr17 702680
chr17:702695 T
T
 G
G
 15 a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
others(12): Show 
a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0002t0078g0041
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0011t0051g0091
 15 HG01074.hp2
HG02135.hp2
HG02602.hp1
others(12): Show 
HG01074.hp2
HG02135.hp2
HG02602.hp1
HG03516.hp2
NA18747.hp1
NA18747.hp2
NA18955.hp2
NA18960.hp2
NA18984.hp2
NA18994.hp2
NA19000.hp2
NA19010.hp2
NA19064.hp2
NA19087.hp1
NA19091.hp1
 intron_variant MODIFIER c.169-3315A>C
c.169-3315A>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 2/21 chr17 702695
chr17:702709 A
A
 G
G
 1 a0007c0013t0132g0163
a0007c0013t0132g0163
 1 HG04204.hp1
HG04204.hp1
 intron_variant MODIFIER c.169-3329T>C
c.169-3329T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 2/21 chr17 702709
chr17:703145 G
G
 C
C
 1 a0001c0001t0118g0195
a0001c0001t0118g0195
 1 HG01346.hp2
HG01346.hp2
 intron_variant MODIFIER c.169-3765C>G
c.169-3765C>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 2/21 chr17 703145
chr17:703200 A
A
 ACCCACCT
others(64): Show 
ACCCACCTCAAATAAAAAACAGATGGGAAACGTGCTCTGCAGGACAGGTG
CTTTGCCTGAAGCTGCAGAGAT
 53 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(50): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0032g0114
a0001c0001t0034g0126
a0001c0001t0069g0012
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0097g0199
a0001c0001t0098g0147
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0105g0201
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0108g0148
a0001c0001t0110g0127
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0118g0195
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0123g0123
a0001c0001t0128g0132
a0001c0001t0134g0154
a0006c0012t0129g0140
 53 HG00423.hp2
HG00741.hp2
HG01109.hp2
others(50): Show 
HG00423.hp2
HG00741.hp2
HG01109.hp2
HG01192.hp1
HG01255.hp2
HG01256.hp2
HG01346.hp2
HG01361.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG02040.hp2
HG02056.hp2
HG02083.hp2
HG02109.hp2
HG02129.hp2
HG02132.hp2
HG02280.hp2
HG02572.hp2
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02723.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02922.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp2
HG03492.hp2
HG03688.hp2
HG04184.hp2
HG04199.hp2
NA18940.hp2
NA18945.hp2
NA18950.hp1
NA18961.hp1
NA18967.hp2
NA18978.hp2
NA18983.hp2
NA18987.hp2
NA19009.hp2
NA19060.hp2
NA19065.hp2
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19079.hp2
NA19081.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
 intron_variant MODIFIER c.169-3891_169-3821d
others(73): Show 
c.169-3891_169-3821dupATCTCTGCAGCTTCAGGCAAAGCACCTG
TCCTGCAGAGCACGTTTCCCATCTGTTTTTTATTTGAGGTGGG
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 2/21 chr17 703200
chr17:703294 T
T
 C
C
 1 a0002c0003t0093g0173
a0002c0003t0093g0173
 1 HG01167.hp1
HG01167.hp1
 intron_variant MODIFIER c.169-3914A>G
c.169-3914A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 2/21 chr17 703294
chr17:703364 T
T
 C
C
 30 a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
others(27): Show 
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
 30 HG01257.hp2
HG01516.hp2
HG01517.hp1
others(27): Show 
HG01257.hp2
HG01516.hp2
HG01517.hp1
HG02074.hp1
HG02109.hp1
HG03831.hp2
NA18612.hp2
NA18906.hp1
NA18945.hp1
NA18950.hp2
NA18957.hp1
NA18959.hp1
NA18961.hp2
NA18962.hp1
NA18977.hp1
NA18978.hp1
NA18984.hp1
NA18986.hp2
NA18990.hp1
NA18994.hp1
NA19011.hp2
NA19060.hp1
NA19064.hp1
NA19068.hp1
NA19080.hp1
NA19081.hp1
NA19087.hp2
NA19091.hp2
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.169-3984A>G
c.169-3984A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 2/21 chr17 703364
chr17:703415 G
G
 A
A
 2 a0001c0001t0087g0198
a0001c0001t0105g0201
a0001c0001t0087g0198
a0001c0001t0105g0201
 2 HG01109.hp2
HG02818.hp1
HG01109.hp2
HG02818.hp1
 intron_variant MODIFIER c.169-4035C>T
c.169-4035C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 2/21 chr17 703415
chr17:703571 T
T
 G
G
 1 a0002c0010t0038g0156
a0002c0010t0038g0156
 1 NA21309.hp1
NA21309.hp1
 intron_variant MODIFIER c.169-4191A>C
c.169-4191A>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 2/21 chr17 703571
chr17:703650 T
T
 G
G
 1 a0001c0001t0097g0199
a0001c0001t0097g0199
 1 HG02922.hp2
HG02922.hp2
 intron_variant MODIFIER c.169-4270A>C
c.169-4270A>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 2/21 chr17 703650
chr17:703802 C
C
 CT
CT
 14 a0001c0002t0001g0056
a0001c0002t0001g0082
a0001c0002t0001g0090
others(11): Show 
a0001c0002t0001g0056
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0001g0094
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0014g0055
a0001c0002t0058g0052
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0005t0080g0092
a0001c0011t0051g0091
a0002c0003t0027g0169
a0005c0009t0137g0189
 14 HG01071.hp2
HG01074.hp1
HG01074.hp2
others(11): Show 
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01167.hp2
HG02738.hp1
HG02886.hp1
NA18747.hp2
NA18955.hp1
NA18955.hp2
NA18979.hp1
NA18984.hp2
NA19000.hp1
NA19064.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.169-4423dupA
c.169-4423dupA
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 2/21 chr17 703802
chr17:703978 G
G
 A
A
 1 a0001c0015t0126g0149
a0001c0015t0126g0149
 1 HG02723.hp1
HG02723.hp1
 intron_variant MODIFIER c.169-4598C>T
c.169-4598C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 2/21 chr17 703978
chr17:704012 T
T
 A
A
 1 a0002c0003t0145g0187
a0002c0003t0145g0187
 1 HG04199.hp1
HG04199.hp1
 intron_variant MODIFIER c.169-4632A>T
c.169-4632A>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 2/21 chr17 704012
chr17:704046 A
A
 G
G
 14 a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
others(11): Show 
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0097g0199
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0105g0201
a0001c0001t0118g0195
a0001c0001t0134g0154
 14 HG01109.hp2
HG01346.hp2
HG01884.hp1
others(11): Show 
HG01109.hp2
HG01346.hp2
HG01884.hp1
HG01891.hp2
HG02572.hp2
HG02622.hp1
HG02622.hp2
HG02723.hp2
HG02818.hp1
HG02922.hp2
HG03139.hp1
HG03139.hp2
NA20129.hp2
NA20300.hp1
 intron_variant MODIFIER c.169-4666T>C
c.169-4666T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 2/21 chr17 704046
chr17:704096 T
T
 C
C
 2 a0001c0001t0034g0162
a0001c0001t0141g0165
a0001c0001t0034g0162
a0001c0001t0141g0165
 2 HG01106.hp2
HG01109.hp1
HG01106.hp2
HG01109.hp1
 intron_variant MODIFIER c.169-4716A>G
c.169-4716A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 2/21 chr17 704096
chr17:704124 A
A
 G
G
 1 a0001c0002t0079g0086
a0001c0002t0079g0086
 1 HG01106.hp1
HG01106.hp1
 intron_variant MODIFIER c.169-4744T>C
c.169-4744T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 2/21 chr17 704124
chr17:704836 A
A
 G
G
 1 a0001c0002t0078g0041
a0001c0002t0078g0041
 1 HG03516.hp2
HG03516.hp2
 intron_variant MODIFIER c.169-5456T>C
c.169-5456T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 2/21 chr17 704836
chr17:704966 C
C
 T
T
 3 a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0106g0117
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0106g0117
 3 HG01884.hp2
HG02109.hp2
HG02280.hp2
HG01884.hp2
HG02109.hp2
HG02280.hp2
 intron_variant MODIFIER c.168+5567G>A
c.168+5567G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 2/21 chr17 704966
chr17:704969 G
G
 A
A
 21 a0001c0001t0117g0230
a0001c0006t0001g0113
a0001c0006t0021g0100
others(18): Show 
a0001c0001t0117g0230
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0001c0016t0052g0099
 21 HG00099.hp2
HG00280.hp2
HG01081.hp2
others(18): Show 
HG00099.hp2
HG00280.hp2
HG01081.hp2
HG01099.hp2
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp2
HG01928.hp2
HG01978.hp2
HG01981.hp2
HG02293.hp2
HG02300.hp2
HG03491.hp1
HG03492.hp1
HG03688.hp1
NA18948.hp1
 intron_variant MODIFIER c.168+5564C>T
c.168+5564C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 2/21 chr17 704969
chr17:705141 T
T
 A
A
 19 a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
others(16): Show 
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0018g0231
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0085g0184
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0099g0192
a0002c0003t0104g0208
a0002c0003t0145g0187
a0002c0003t0150g0191
 19 HG00438.hp2
HG01099.hp1
HG01928.hp1
others(16): Show 
HG00438.hp2
HG01099.hp1
HG01928.hp1
HG01981.hp1
HG02040.hp1
HG02056.hp1
HG02083.hp1
HG02293.hp1
HG02300.hp1
HG03491.hp2
HG03942.hp1
HG04199.hp1
NA18612.hp1
NA18987.hp1
NA19000.hp1
NA19010.hp1
NA19074.hp1
NA19080.hp2
NA19084.hp2
 intron_variant MODIFIER c.168+5392A>T
c.168+5392A>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 2/21 chr17 705141
chr17:705423 T
T
 TA
TA
 16 a0001c0001t0002g0141
a0001c0001t0016g0118
a0001c0001t0107g0212
others(13): Show 
a0001c0001t0002g0141
a0001c0001t0016g0118
a0001c0001t0107g0212
a0001c0002t0017g0225
a0001c0002t0035g0219
a0001c0002t0038g0224
a0001c0002t0086g0221
a0001c0002t0100g0223
a0001c0002t0109g0222
a0001c0002t0143g0226
a0001c0002t0149g0202
a0004c0008t0035g0203
a0004c0008t0103g0227
a0004c0008t0124g0229
a0004c0008t0133g0232
a0004c0008t0142g0228
 16 HG00099.hp1
HG00140.hp1
HG00438.hp1
others(13): Show 
HG00099.hp1
HG00140.hp1
HG00438.hp1
HG01255.hp2
HG01346.hp1
HG01516.hp1
HG02145.hp1
HG03942.hp2
HG04184.hp1
NA18944.hp2
NA18967.hp2
NA18973.hp2
NA18990.hp2
NA19011.hp1
NA19066.hp1
NA19074.hp2
 intron_variant MODIFIER c.168+5109dupT
c.168+5109dupT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 2/21 chr17 705423
chr17:705423 TA
TA
 T
T
 116 a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
others(113): Show 
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0097g0199
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0105g0201
a0001c0001t0117g0230
a0001c0001t0118g0195
a0001c0001t0134g0154
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0001g0094
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0065g0093
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0077g0095
a0001c0002t0078g0041
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0001c0011t0051g0091
a0001c0016t0052g0099
a0002c0003t0073g0068
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
 116 HG00099.hp2
HG00280.hp2
HG00621.hp2
others(113): Show 
HG00099.hp2
HG00280.hp2
HG00621.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01106.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01255.hp1
HG01256.hp1
HG01257.hp2
HG01258.hp1
HG01346.hp2
HG01361.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01891.hp2
HG01928.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp2
HG02074.hp1
HG02135.hp1
HG02135.hp2
HG02293.hp2
HG02300.hp2
HG02572.hp2
HG02602.hp1
HG02622.hp1
HG02622.hp2
HG02723.hp2
HG02738.hp1
HG02818.hp1
HG02886.hp1
HG02922.hp2
HG03139.hp1
HG03139.hp2
HG03491.hp1
HG03492.hp1
HG03516.hp2
HG03688.hp1
HG03831.hp2
HG04204.hp2
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18944.hp1
NA18945.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp2
NA18955.hp2
NA18957.hp1
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18973.hp1
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18979.hp1
NA18984.hp1
NA18984.hp2
NA18986.hp2
NA18990.hp1
NA18994.hp1
NA18994.hp2
NA19000.hp2
NA19007.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp2
NA19060.hp1
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19068.hp1
NA19070.hp1
NA19079.hp1
NA19080.hp1
NA19081.hp1
NA19084.hp1
NA19087.hp1
NA19087.hp2
NA19090.hp1
NA19091.hp1
NA19091.hp2
NA20129.hp2
NA20300.hp1
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.168+5109delT
c.168+5109delT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 2/21 chr17 705423
chr17:705611 G
G
 A
A
 1 a0001c0006t0053g0102
a0001c0006t0053g0102
 1 HG00099.hp2
HG00099.hp2
 intron_variant MODIFIER c.168+4922C>T
c.168+4922C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 2/21 chr17 705611
chr17:705767 G
G
 A
A
 1 a0003c0004t0071g0037
a0003c0004t0071g0037
 1 NA18906.hp1
NA18906.hp1
 intron_variant MODIFIER c.168+4766C>T
c.168+4766C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 2/21 chr17 705767
chr17:705924 G
G
 C
C
 5 a0001c0001t0032g0114
a0001c0001t0095g0145
a0001c0001t0096g0146
others(2): Show 
a0001c0001t0032g0114
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0098g0147
a0001c0001t0108g0148
 5 HG01192.hp1
HG02818.hp2
HG02895.hp1
others(2): Show 
HG01192.hp1
HG02818.hp2
HG02895.hp1
HG03225.hp2
NA20300.hp2
 intron_variant MODIFIER c.168+4609C>G
c.168+4609C>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 2/21 chr17 705924
chr17:706035 T
T
 C
C
 63 a0001c0001t0117g0230
a0001c0002t0001g0045
a0001c0002t0001g0056
others(60): Show 
a0001c0001t0117g0230
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0001c0016t0052g0099
a0002c0003t0073g0068
 63 HG00099.hp2
HG00140.hp2
HG00280.hp1
others(60): Show 
HG00099.hp2
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00621.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01106.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01361.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp2
HG01928.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp2
HG02135.hp1
HG02293.hp2
HG02300.hp2
HG02738.hp1
HG02886.hp1
HG03491.hp1
HG03492.hp1
HG03688.hp1
HG04204.hp2
NA18906.hp2
NA18940.hp1
NA18944.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18959.hp2
NA18960.hp1
NA18962.hp2
NA18967.hp1
NA18973.hp1
NA18977.hp2
NA18979.hp1
NA19007.hp1
NA19009.hp1
NA19065.hp1
NA19070.hp1
NA19079.hp1
NA19084.hp1
NA19090.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.168+4498A>G
c.168+4498A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 2/21 chr17 706035
chr17:706040 G
G
 A
A
 9 a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
others(6): Show 
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
 9 HG02135.hp2
HG02602.hp1
NA18747.hp1
others(6): Show 
HG02135.hp2
HG02602.hp1
NA18747.hp1
NA18960.hp2
NA18994.hp2
NA19000.hp2
NA19010.hp2
NA19087.hp1
NA19091.hp1
 intron_variant MODIFIER c.168+4493C>T
c.168+4493C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 2/21 chr17 706040
chr17:706266 T
T
 C
C
 123 a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
others(120): Show 
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0097g0199
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0105g0201
a0001c0001t0117g0230
a0001c0001t0118g0195
a0001c0001t0134g0154
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0001g0094
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0065g0093
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0077g0095
a0001c0002t0078g0041
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0001c0011t0051g0091
a0001c0016t0052g0099
a0002c0003t0009g0188
a0002c0003t0073g0068
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
 123 HG00099.hp2
HG00140.hp2
HG00280.hp1
others(120): Show 
HG00099.hp2
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00621.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01106.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01255.hp1
HG01256.hp1
HG01257.hp2
HG01258.hp1
HG01346.hp2
HG01361.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01891.hp2
HG01928.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp2
HG02074.hp1
HG02109.hp1
HG02135.hp1
HG02135.hp2
HG02293.hp2
HG02300.hp2
HG02572.hp2
HG02602.hp1
HG02622.hp1
HG02622.hp2
HG02723.hp2
HG02738.hp1
HG02818.hp1
HG02886.hp1
HG02922.hp2
HG03139.hp1
HG03139.hp2
HG03491.hp1
HG03492.hp1
HG03516.hp2
HG03688.hp1
HG03831.hp2
HG04204.hp2
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18944.hp1
NA18945.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp2
NA18955.hp2
NA18957.hp1
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18967.hp1
NA18973.hp1
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18979.hp1
NA18984.hp1
NA18984.hp2
NA18986.hp2
NA18990.hp1
NA18994.hp1
NA18994.hp2
NA19000.hp2
NA19007.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp2
NA19060.hp1
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19068.hp1
NA19070.hp1
NA19079.hp1
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19084.hp1
NA19087.hp1
NA19087.hp2
NA19090.hp1
NA19091.hp1
NA19091.hp2
NA20129.hp2
NA20300.hp1
NA20805.hp1
NA20805.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.168+4267A>G
c.168+4267A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 2/21 chr17 706266
chr17:706276 C
C
 T
T
 1 a0001c0007t0062g0104
a0001c0007t0062g0104
 1 HG02293.hp2
HG02293.hp2
 intron_variant MODIFIER c.168+4257G>A
c.168+4257G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 2/21 chr17 706276
chr17:706307 G
G
 A
A
 1 a0001c0002t0049g0048
a0001c0002t0049g0048
 1 HG02145.hp2
HG02145.hp2
 intron_variant MODIFIER c.168+4226C>T
c.168+4226C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 2/21 chr17 706307
chr17:706313 C
C
 T
T
 1 a0001c0001t0121g0143
a0001c0001t0121g0143
 1 HG04199.hp2
HG04199.hp2
 intron_variant MODIFIER c.168+4220G>A
c.168+4220G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 2/21 chr17 706313
chr17:706314 A
A
 G
G
 1 a0001c0001t0121g0143
a0001c0001t0121g0143
 1 HG04199.hp2
HG04199.hp2
 intron_variant MODIFIER c.168+4219T>C
c.168+4219T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 2/21 chr17 706314
chr17:706418 A
A
 T
T
 122 a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
others(119): Show 
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0097g0199
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0105g0201
a0001c0001t0117g0230
a0001c0001t0118g0195
a0001c0001t0134g0154
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0001g0094
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0065g0093
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0077g0095
a0001c0002t0078g0041
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0001c0011t0051g0091
a0001c0016t0052g0099
a0002c0003t0073g0068
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
 122 HG00099.hp2
HG00140.hp2
HG00280.hp1
others(119): Show 
HG00099.hp2
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00621.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01106.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01255.hp1
HG01256.hp1
HG01257.hp2
HG01258.hp1
HG01346.hp2
HG01361.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01891.hp2
HG01928.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp2
HG02074.hp1
HG02109.hp1
HG02135.hp1
HG02135.hp2
HG02293.hp2
HG02300.hp2
HG02572.hp2
HG02602.hp1
HG02622.hp1
HG02622.hp2
HG02723.hp2
HG02738.hp1
HG02818.hp1
HG02886.hp1
HG02922.hp2
HG03139.hp1
HG03139.hp2
HG03491.hp1
HG03492.hp1
HG03516.hp2
HG03688.hp1
HG03831.hp2
HG04204.hp2
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18944.hp1
NA18945.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp2
NA18955.hp2
NA18957.hp1
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18967.hp1
NA18973.hp1
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18979.hp1
NA18984.hp1
NA18984.hp2
NA18986.hp2
NA18990.hp1
NA18994.hp1
NA18994.hp2
NA19000.hp2
NA19007.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp2
NA19060.hp1
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19068.hp1
NA19070.hp1
NA19079.hp1
NA19080.hp1
NA19081.hp1
NA19084.hp1
NA19087.hp1
NA19087.hp2
NA19090.hp1
NA19091.hp1
NA19091.hp2
NA20129.hp2
NA20300.hp1
NA20805.hp1
NA20805.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.168+4115T>A
c.168+4115T>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 2/21 chr17 706418
chr17:706535 C
C
 CA
CA
 8 a0001c0001t0016g0118
a0001c0002t0055g0084
a0001c0002t0079g0086
others(5): Show 
a0001c0001t0016g0118
a0001c0002t0055g0084
a0001c0002t0079g0086
a0002c0003t0146g0170
a0002c0003t0150g0191
a0003c0004t0047g0017
a0005c0009t0137g0189
a0007c0013t0132g0163
 8 HG01106.hp1
HG01981.hp1
HG04204.hp1
others(5): Show 
HG01106.hp1
HG01981.hp1
HG04204.hp1
NA18906.hp2
NA18955.hp1
NA18967.hp2
NA18994.hp1
NA19090.hp2
 intron_variant MODIFIER c.168+3997dupT
c.168+3997dupT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 2/21 chr17 706535
chr17:706570 T
T
 C
C
 1 a0001c0006t0053g0102
a0001c0006t0053g0102
 1 HG00099.hp2
HG00099.hp2
 intron_variant MODIFIER c.168+3963A>G
c.168+3963A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 2/21 chr17 706570
chr17:706707 G
G
 T
T
 3 a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0134g0154
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0134g0154
 3 HG01891.hp2
NA20129.hp2
NA20300.hp1
HG01891.hp2
NA20129.hp2
NA20300.hp1
 intron_variant MODIFIER c.168+3826C>A
c.168+3826C>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 2/21 chr17 706707
chr17:706743 T
T
 G
G
 1 a0003c0004t0025g0038
a0003c0004t0025g0038
 1 NA19068.hp1
NA19068.hp1
 intron_variant MODIFIER c.168+3790A>C
c.168+3790A>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 2/21 chr17 706743
chr17:706854 G
G
 C
C
 59 a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
others(56): Show 
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0097g0199
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0105g0201
a0001c0001t0118g0195
a0001c0001t0134g0154
a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0002t0078g0041
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0011t0051g0091
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
 59 HG01074.hp2
HG01109.hp2
HG01257.hp2
others(56): Show 
HG01074.hp2
HG01109.hp2
HG01257.hp2
HG01346.hp2
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01891.hp2
HG02074.hp1
HG02109.hp1
HG02135.hp2
HG02572.hp2
HG02602.hp1
HG02622.hp1
HG02622.hp2
HG02723.hp2
HG02818.hp1
HG02922.hp2
HG03139.hp1
HG03139.hp2
HG03516.hp2
HG03831.hp2
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18945.hp1
NA18950.hp2
NA18955.hp2
NA18957.hp1
NA18959.hp1
NA18960.hp2
NA18961.hp2
NA18962.hp1
NA18977.hp1
NA18978.hp1
NA18984.hp1
NA18984.hp2
NA18986.hp2
NA18990.hp1
NA18994.hp1
NA18994.hp2
NA19000.hp2
NA19010.hp2
NA19011.hp2
NA19060.hp1
NA19064.hp1
NA19064.hp2
NA19068.hp1
NA19080.hp1
NA19081.hp1
NA19087.hp1
NA19087.hp2
NA19091.hp1
NA19091.hp2
NA20129.hp2
NA20300.hp1
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.168+3679C>G
c.168+3679C>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 2/21 chr17 706854
chr17:706884 C
C
 T
T
 1 a0001c0002t0076g0050
a0001c0002t0076g0050
 1 NA18973.hp1
NA18973.hp1
 intron_variant MODIFIER c.168+3649G>A
c.168+3649G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 2/21 chr17 706884
chr17:707157 C
C
 CTT
CTT
 230 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(227): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0017g0158
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0032g0114
a0001c0001t0032g0204
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0034g0126
a0001c0001t0034g0162
a0001c0001t0069g0012
a0001c0001t0084g0046
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0097g0199
a0001c0001t0098g0147
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0105g0201
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0108g0148
a0001c0001t0110g0127
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0118g0195
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0122g0160
a0001c0001t0123g0123
a0001c0001t0127g0159
a0001c0001t0128g0132
a0001c0001t0134g0154
a0001c0001t0138g0161
a0001c0001t0141g0165
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0001g0094
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0017g0225
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0035g0219
a0001c0002t0038g0224
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0050g0049
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0065g0093
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0077g0095
a0001c0002t0078g0041
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0002t0086g0221
a0001c0002t0100g0223
a0001c0002t0109g0222
a0001c0002t0125g0116
a0001c0002t0143g0226
a0001c0002t0149g0202
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0001c0011t0051g0091
a0001c0014t0135g0166
a0001c0015t0126g0149
a0001c0016t0052g0099
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0017g0179
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0018g0231
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0073g0068
a0002c0003t0085g0184
a0002c0003t0089g0175
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0099g0192
a0002c0003t0104g0208
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0145g0187
a0002c0003t0146g0170
a0002c0003t0148g0174
a0002c0003t0150g0191
a0002c0010t0038g0156
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
a0004c0008t0035g0203
a0004c0008t0036g0207
a0004c0008t0103g0227
a0004c0008t0124g0229
a0004c0008t0133g0232
a0004c0008t0142g0228
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
a0006c0012t0129g0140
a0007c0013t0132g0163
 230 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(227): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00621.hp1
HG00621.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02056.hp1
HG02056.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18955.hp1
NA18955.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18967.hp1
NA18967.hp2
NA18973.hp1
NA18973.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18990.hp1
NA18990.hp2
NA18994.hp1
NA18994.hp2
NA19000.hp1
NA19000.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19087.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.168+3375_168+3376i
others(4): Show 
c.168+3375_168+3376insAA
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 2/21 chr17 707157
chr17:707180 T
T
 C
C
 1 a0001c0005t0045g0009
a0001c0005t0045g0009
 1 HG02135.hp2
HG02135.hp2
 intron_variant MODIFIER c.168+3353A>G
c.168+3353A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 2/21 chr17 707180
chr17:707288 G
G
 A
A
 4 a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
others(1): Show 
a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0005t0080g0092
 4 NA18747.hp2
NA18955.hp2
NA18984.hp2
others(1): Show 
NA18747.hp2
NA18955.hp2
NA18984.hp2
NA19064.hp2
 intron_variant MODIFIER c.168+3245C>T
c.168+3245C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 2/21 chr17 707288
chr17:707468 C
C
 A
A
 9 a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
others(6): Show 
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
 9 HG02135.hp2
HG02602.hp1
NA18747.hp1
others(6): Show 
HG02135.hp2
HG02602.hp1
NA18747.hp1
NA18960.hp2
NA18994.hp2
NA19000.hp2
NA19010.hp2
NA19087.hp1
NA19091.hp1
 intron_variant MODIFIER c.168+3065G>T
c.168+3065G>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 2/21 chr17 707468
chr17:707490 A
A
 G
G
 1 a0001c0001t0084g0046
a0001c0001t0084g0046
 1 HG03516.hp1
HG03516.hp1
 intron_variant MODIFIER c.168+3043T>C
c.168+3043T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 2/21 chr17 707490
chr17:707520 CA
CA
 C
C
 216 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(213): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0017g0158
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0031g0153
a0001c0001t0032g0114
a0001c0001t0032g0204
a0001c0001t0033g0205
a0001c0001t0034g0126
a0001c0001t0034g0162
a0001c0001t0069g0012
a0001c0001t0084g0046
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0097g0199
a0001c0001t0098g0147
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0105g0201
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0108g0148
a0001c0001t0110g0127
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0113g0122
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0118g0195
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0122g0160
a0001c0001t0123g0123
a0001c0001t0127g0159
a0001c0001t0128g0132
a0001c0001t0134g0154
a0001c0001t0138g0161
a0001c0001t0141g0165
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0001g0094
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0017g0225
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0035g0219
a0001c0002t0038g0224
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0050g0049
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0065g0093
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0077g0095
a0001c0002t0078g0041
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0002t0086g0221
a0001c0002t0100g0223
a0001c0002t0109g0222
a0001c0002t0125g0116
a0001c0002t0143g0226
a0001c0002t0149g0202
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0080g0092
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0001c0011t0051g0091
a0001c0014t0135g0166
a0001c0015t0126g0149
a0001c0016t0052g0099
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0017g0179
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0018g0231
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0073g0068
a0002c0003t0085g0184
a0002c0003t0089g0175
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0099g0192
a0002c0003t0104g0208
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0145g0187
a0002c0003t0146g0170
a0002c0003t0148g0174
a0002c0003t0150g0191
a0002c0010t0038g0156
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
a0004c0008t0035g0203
a0004c0008t0036g0207
a0004c0008t0103g0227
a0004c0008t0124g0229
a0004c0008t0133g0232
a0004c0008t0142g0228
a0005c0009t0130g0178
a0005c0009t0147g0177
a0006c0012t0129g0140
a0007c0013t0132g0163
 216 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(213): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00621.hp1
HG00621.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01928.hp1
HG01928.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02056.hp1
HG02056.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02145.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02572.hp1
HG02572.hp2
HG02622.hp1
HG02622.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18955.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18967.hp1
NA18973.hp1
NA18973.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18990.hp1
NA18990.hp2
NA19000.hp1
NA19000.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19011.hp1
NA19011.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19087.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.168+3012delT
c.168+3012delT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 2/21 chr17 707520
chr17:707587 G
G
 A
A
 5 a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
others(2): Show 
a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0005t0080g0092
a0001c0011t0051g0091
 5 HG01074.hp2
NA18747.hp2
NA18955.hp2
others(2): Show 
HG01074.hp2
NA18747.hp2
NA18955.hp2
NA18984.hp2
NA19064.hp2
 intron_variant MODIFIER c.168+2946C>T
c.168+2946C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 2/21 chr17 707587
chr17:707786 C
C
 A
A
 188 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(185): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0017g0158
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0032g0114
a0001c0001t0032g0204
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0034g0126
a0001c0001t0034g0162
a0001c0001t0069g0012
a0001c0001t0084g0046
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0097g0199
a0001c0001t0098g0147
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0105g0201
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0108g0148
a0001c0001t0110g0127
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0118g0195
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0122g0160
a0001c0001t0123g0123
a0001c0001t0127g0159
a0001c0001t0128g0132
a0001c0001t0134g0154
a0001c0001t0138g0161
a0001c0001t0141g0165
a0001c0002t0001g0094
a0001c0002t0017g0225
a0001c0002t0035g0219
a0001c0002t0038g0224
a0001c0002t0050g0049
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0002t0078g0041
a0001c0002t0086g0221
a0001c0002t0100g0223
a0001c0002t0109g0222
a0001c0002t0125g0116
a0001c0002t0143g0226
a0001c0002t0149g0202
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0001c0011t0051g0091
a0001c0014t0135g0166
a0001c0015t0126g0149
a0001c0016t0052g0099
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0017g0179
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0018g0231
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0085g0184
a0002c0003t0089g0175
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0099g0192
a0002c0003t0104g0208
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0145g0187
a0002c0003t0146g0170
a0002c0003t0148g0174
a0002c0003t0150g0191
a0002c0010t0038g0156
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
a0004c0008t0035g0203
a0004c0008t0036g0207
a0004c0008t0103g0227
a0004c0008t0124g0229
a0004c0008t0133g0232
a0004c0008t0142g0228
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
a0006c0012t0129g0140
a0007c0013t0132g0163
 188 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(185): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00621.hp1
HG00741.hp1
HG00741.hp2
HG01070.hp2
HG01071.hp1
HG01074.hp2
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02056.hp1
HG02056.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18940.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18948.hp1
NA18950.hp1
NA18950.hp2
NA18955.hp1
NA18955.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18967.hp2
NA18973.hp2
NA18977.hp1
NA18978.hp1
NA18978.hp2
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18990.hp1
NA18990.hp2
NA18994.hp1
NA18994.hp2
NA19000.hp1
NA19000.hp2
NA19007.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19084.hp2
NA19087.hp1
NA19087.hp2
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.168+2747G>T
c.168+2747G>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 2/21 chr17 707786
chr17:707792 C
C
 T
T
 5 a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
others(2): Show 
a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0005t0080g0092
a0001c0011t0051g0091
 5 HG01074.hp2
NA18747.hp2
NA18955.hp2
others(2): Show 
HG01074.hp2
NA18747.hp2
NA18955.hp2
NA18984.hp2
NA19064.hp2
 intron_variant MODIFIER c.168+2741G>A
c.168+2741G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 2/21 chr17 707792
chr17:707844 C
C
 CA
CA
 66 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(63): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0017g0158
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0032g0114
a0001c0001t0032g0204
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0034g0126
a0001c0001t0034g0162
a0001c0001t0069g0012
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0098g0147
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0108g0148
a0001c0001t0110g0127
a0001c0001t0112g0157
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0122g0160
a0001c0001t0123g0123
a0001c0001t0127g0159
a0001c0001t0128g0132
a0001c0001t0138g0161
a0001c0001t0141g0165
a0001c0002t0078g0041
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0014t0135g0166
a0001c0015t0126g0149
a0002c0003t0092g0190
a0002c0010t0038g0156
a0003c0004t0003g0015
a0003c0004t0004g0040
a0006c0012t0129g0140
a0007c0013t0132g0163
 66 HG00423.hp2
HG00741.hp1
HG00741.hp2
others(63): Show 
HG00423.hp2
HG00741.hp1
HG00741.hp2
HG01106.hp2
HG01109.hp1
HG01192.hp1
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp2
HG01361.hp2
HG01884.hp2
HG01891.hp1
HG02040.hp2
HG02056.hp2
HG02083.hp2
HG02109.hp2
HG02129.hp2
HG02132.hp2
HG02135.hp2
HG02280.hp2
HG02572.hp1
HG02602.hp1
HG02602.hp2
HG02723.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG03225.hp1
HG03225.hp2
HG03492.hp2
HG03516.hp2
HG03688.hp2
HG04184.hp2
HG04199.hp2
HG04204.hp1
NA18747.hp1
NA18940.hp2
NA18945.hp2
NA18950.hp1
NA18960.hp2
NA18961.hp1
NA18967.hp2
NA18978.hp2
NA18983.hp2
NA18984.hp1
NA18987.hp2
NA18994.hp2
NA19000.hp2
NA19009.hp2
NA19010.hp2
NA19060.hp2
NA19065.hp2
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19079.hp2
NA19081.hp2
NA19084.hp2
NA19087.hp1
NA19091.hp1
NA20129.hp1
NA20300.hp2
NA21309.hp1
 intron_variant MODIFIER c.168+2688dupT
c.168+2688dupT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 2/21 chr17 707844
chr17:707844 C
C
 CAA
CAA
 32 a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
others(29): Show 
a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0005t0080g0092
a0001c0011t0051g0091
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
 32 HG01074.hp2
HG01516.hp2
HG01517.hp1
others(29): Show 
HG01074.hp2
HG01516.hp2
HG01517.hp1
HG02074.hp1
HG02109.hp1
HG03831.hp2
NA18612.hp2
NA18747.hp2
NA18906.hp1
NA18945.hp1
NA18950.hp2
NA18955.hp2
NA18957.hp1
NA18959.hp1
NA18961.hp2
NA18962.hp1
NA18977.hp1
NA18978.hp1
NA18984.hp2
NA18986.hp2
NA18990.hp1
NA19011.hp2
NA19060.hp1
NA19064.hp1
NA19064.hp2
NA19068.hp1
NA19080.hp1
NA19081.hp1
NA19087.hp2
NA19091.hp2
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.168+2687_168+2688d
others(4): Show 
c.168+2687_168+2688dupTT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 2/21 chr17 707844
chr17:707844 CA
CA
 C
C
 44 a0001c0001t0084g0046
a0001c0002t0001g0045
a0001c0002t0001g0056
others(41): Show 
a0001c0001t0084g0046
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0002c0003t0073g0068
a0002c0003t0131g0193
 44 HG00140.hp2
HG00280.hp1
HG00323.hp1
others(41): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp1
HG00621.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01106.hp1
HG01167.hp2
HG01168.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01361.hp1
HG01496.hp1
HG01978.hp1
HG02135.hp1
HG02738.hp1
HG02886.hp1
HG03516.hp1
HG04204.hp2
NA18906.hp2
NA18940.hp1
NA18944.hp1
NA18946.hp2
NA18948.hp2
NA18959.hp2
NA18960.hp1
NA18962.hp2
NA18967.hp1
NA18973.hp1
NA18977.hp2
NA18979.hp1
NA19007.hp1
NA19009.hp1
NA19065.hp1
NA19070.hp1
NA19079.hp1
NA19084.hp1
NA19090.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.168+2688delT
c.168+2688delT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 2/21 chr17 707844
chr17:707982 G
G
 C
C
 1 a0001c0002t0078g0041
a0001c0002t0078g0041
 1 HG03516.hp2
HG03516.hp2
 intron_variant MODIFIER c.168+2551C>G
c.168+2551C>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 2/21 chr17 707982
chr17:708033 G
G
 C
C
 30 a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
others(27): Show 
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
 30 HG01257.hp2
HG01516.hp2
HG01517.hp1
others(27): Show 
HG01257.hp2
HG01516.hp2
HG01517.hp1
HG02074.hp1
HG02109.hp1
HG03831.hp2
NA18612.hp2
NA18906.hp1
NA18945.hp1
NA18950.hp2
NA18957.hp1
NA18959.hp1
NA18961.hp2
NA18962.hp1
NA18977.hp1
NA18978.hp1
NA18984.hp1
NA18986.hp2
NA18990.hp1
NA18994.hp1
NA19011.hp2
NA19060.hp1
NA19064.hp1
NA19068.hp1
NA19080.hp1
NA19081.hp1
NA19087.hp2
NA19091.hp2
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.168+2500C>G
c.168+2500C>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 2/21 chr17 708033
chr17:708073 C
C
 T
T
 1 a0001c0006t0040g0002
a0001c0006t0040g0002
 1 HG01981.hp2
HG01981.hp2
 intron_variant MODIFIER c.168+2460G>A
c.168+2460G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 2/21 chr17 708073
chr17:708108 C
C
 T
T
 39 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(36): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0032g0114
a0001c0001t0034g0126
a0001c0001t0069g0012
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0098g0147
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0108g0148
a0001c0001t0110g0127
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0123g0123
a0001c0001t0128g0132
a0006c0012t0129g0140
 39 HG00423.hp2
HG00741.hp2
HG01192.hp1
others(36): Show 
HG00423.hp2
HG00741.hp2
HG01192.hp1
HG01255.hp2
HG01256.hp2
HG01361.hp2
HG01884.hp2
HG02040.hp2
HG02056.hp2
HG02083.hp2
HG02109.hp2
HG02129.hp2
HG02132.hp2
HG02280.hp2
HG02602.hp2
HG02818.hp2
HG02895.hp1
HG03225.hp2
HG03492.hp2
HG03688.hp2
HG04184.hp2
HG04199.hp2
NA18940.hp2
NA18945.hp2
NA18950.hp1
NA18961.hp1
NA18967.hp2
NA18978.hp2
NA18983.hp2
NA18987.hp2
NA19009.hp2
NA19060.hp2
NA19065.hp2
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19079.hp2
NA19081.hp2
NA20300.hp2
 intron_variant MODIFIER c.168+2425G>A
c.168+2425G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 2/21 chr17 708108
chr17:708163 C
C
 T
T
 6 a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0101g0200
others(3): Show 
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0118g0195
a0001c0001t0134g0154
 6 HG01346.hp2
HG01891.hp2
HG02572.hp2
others(3): Show 
HG01346.hp2
HG01891.hp2
HG02572.hp2
HG03139.hp1
NA20129.hp2
NA20300.hp1
 intron_variant MODIFIER c.168+2370G>A
c.168+2370G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 2/21 chr17 708163
chr17:708197 T
T
 C
C
 1 a0001c0002t0078g0041
a0001c0002t0078g0041
 1 HG03516.hp2
HG03516.hp2
 intron_variant MODIFIER c.168+2336A>G
c.168+2336A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 2/21 chr17 708197
chr17:708494 A
A
 G
G
 1 a0001c0002t0078g0041
a0001c0002t0078g0041
 1 HG03516.hp2
HG03516.hp2
 intron_variant MODIFIER c.168+2039T>C
c.168+2039T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 2/21 chr17 708494
chr17:708504 T
T
 C
C
 30 a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
others(27): Show 
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
 30 HG01257.hp2
HG01516.hp2
HG01517.hp1
others(27): Show 
HG01257.hp2
HG01516.hp2
HG01517.hp1
HG02074.hp1
HG02109.hp1
HG03831.hp2
NA18612.hp2
NA18906.hp1
NA18945.hp1
NA18950.hp2
NA18957.hp1
NA18959.hp1
NA18961.hp2
NA18962.hp1
NA18977.hp1
NA18978.hp1
NA18984.hp1
NA18986.hp2
NA18990.hp1
NA18994.hp1
NA19011.hp2
NA19060.hp1
NA19064.hp1
NA19068.hp1
NA19080.hp1
NA19081.hp1
NA19087.hp2
NA19091.hp2
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.168+2029A>G
c.168+2029A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 2/21 chr17 708504
chr17:708734 A
A
 G
G
 1 a0001c0005t0042g0044
a0001c0005t0042g0044
 1 NA19000.hp2
NA19000.hp2
 intron_variant MODIFIER c.168+1799T>C
c.168+1799T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 2/21 chr17 708734
chr17:708751 T
T
 C
C
 1 a0001c0001t0098g0147
a0001c0001t0098g0147
 1 HG02818.hp2
HG02818.hp2
 intron_variant MODIFIER c.168+1782A>G
c.168+1782A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 2/21 chr17 708751
chr17:708902 C
C
 A
A
 1 a0001c0014t0135g0166
a0001c0014t0135g0166
 1 HG02572.hp1
HG02572.hp1
 intron_variant MODIFIER c.168+1631G>T
c.168+1631G>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 2/21 chr17 708902
chr17:709140 C
C
 A
A
 1 a0002c0003t0150g0191
a0002c0003t0150g0191
 1 HG01981.hp1
HG01981.hp1
 intron_variant MODIFIER c.168+1393G>T
c.168+1393G>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 2/21 chr17 709140
chr17:709178 G
G
 A
A
 1 a0001c0001t0002g0213
a0001c0001t0002g0213
 1 HG03688.hp2
HG03688.hp2
 intron_variant MODIFIER c.168+1355C>T
c.168+1355C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 2/21 chr17 709178
chr17:709184 T
T
 TCACGCTC
others(32): Show 
TCACGCTCTGTCACGGAACCTGCCTGGTATCACGGCGCAG
 1 a0001c0002t0001g0082
a0001c0002t0001g0082
 1 HG02886.hp1
HG02886.hp1
 intron_variant MODIFIER c.168+1310_168+1348d
others(41): Show 
c.168+1310_168+1348dupCTGCGCCGTGATACCAGGCAGGTTCCGT
GACAGAGCGTG
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 2/21 chr17 709184
chr17:709184 TCACGCTC
others(32): Show 
TCACGCTCTGTCACGGAACCTGCCTGGTATCACGGCGCAG
 T
T
 6 a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
others(3): Show 
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0016t0052g0099
 6 HG01168.hp2
HG01175.hp1
HG01515.hp2
others(3): Show 
HG01168.hp2
HG01175.hp1
HG01515.hp2
HG01981.hp2
HG03491.hp1
HG03492.hp1
 intron_variant MODIFIER c.168+1310_168+1348d
others(41): Show 
c.168+1310_168+1348delCTGCGCCGTGATACCAGGCAGGTTCCGT
GACAGAGCGTG
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 2/21 chr17 709184
chr17:709220 G
G
 A
A
 52 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(49): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0017g0158
a0001c0001t0032g0114
a0001c0001t0032g0204
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0034g0126
a0001c0001t0034g0162
a0001c0001t0069g0012
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0098g0147
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0108g0148
a0001c0001t0110g0127
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0122g0160
a0001c0001t0123g0123
a0001c0001t0127g0159
a0001c0001t0128g0132
a0001c0001t0138g0161
a0001c0001t0141g0165
a0001c0014t0135g0166
a0001c0015t0126g0149
a0002c0010t0038g0156
a0006c0012t0129g0140
a0007c0013t0132g0163
 52 HG00423.hp2
HG00741.hp1
HG00741.hp2
others(49): Show 
HG00423.hp2
HG00741.hp1
HG00741.hp2
HG01106.hp2
HG01109.hp1
HG01192.hp1
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01361.hp2
HG01891.hp1
HG02040.hp2
HG02056.hp2
HG02083.hp2
HG02109.hp2
HG02129.hp2
HG02132.hp2
HG02572.hp1
HG02602.hp2
HG02723.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG03225.hp1
HG03225.hp2
HG03492.hp2
HG03688.hp2
HG04184.hp2
HG04199.hp2
HG04204.hp1
NA18940.hp2
NA18945.hp2
NA18950.hp1
NA18961.hp1
NA18967.hp2
NA18978.hp2
NA18983.hp2
NA18987.hp2
NA19009.hp2
NA19060.hp2
NA19065.hp2
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19079.hp2
NA19081.hp2
NA20129.hp1
NA20300.hp2
NA21309.hp1
 intron_variant MODIFIER c.168+1313C>T
c.168+1313C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 2/21 chr17 709220
chr17:709267 T
T
 G
G
 6 a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
others(3): Show 
a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0005t0080g0092
a0001c0006t0057g0103
a0001c0011t0051g0091
 6 HG00280.hp2
HG01074.hp2
NA18747.hp2
others(3): Show 
HG00280.hp2
HG01074.hp2
NA18747.hp2
NA18955.hp2
NA18984.hp2
NA19064.hp2
 intron_variant MODIFIER c.168+1266A>C
c.168+1266A>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 2/21 chr17 709267
chr17:709368 A
A
 C
C
 14 a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
others(11): Show 
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0097g0199
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0105g0201
a0001c0001t0118g0195
a0001c0001t0134g0154
 14 HG01109.hp2
HG01346.hp2
HG01884.hp1
others(11): Show 
HG01109.hp2
HG01346.hp2
HG01884.hp1
HG01891.hp2
HG02572.hp2
HG02622.hp1
HG02622.hp2
HG02723.hp2
HG02818.hp1
HG02922.hp2
HG03139.hp1
HG03139.hp2
NA20129.hp2
NA20300.hp1
 intron_variant MODIFIER c.168+1165T>G
c.168+1165T>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 2/21 chr17 709368
chr17:709412 C
C
 T
T
 230 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(227): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0017g0158
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0032g0114
a0001c0001t0032g0204
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0034g0126
a0001c0001t0034g0162
a0001c0001t0069g0012
a0001c0001t0084g0046
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0097g0199
a0001c0001t0098g0147
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0105g0201
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0108g0148
a0001c0001t0110g0127
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0117g0230
a0001c0001t0118g0195
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0122g0160
a0001c0001t0123g0123
a0001c0001t0127g0159
a0001c0001t0128g0132
a0001c0001t0134g0154
a0001c0001t0138g0161
a0001c0001t0141g0165
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0001g0094
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0017g0225
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0035g0219
a0001c0002t0038g0224
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0050g0049
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0065g0093
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0077g0095
a0001c0002t0078g0041
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0002t0086g0221
a0001c0002t0100g0223
a0001c0002t0109g0222
a0001c0002t0125g0116
a0001c0002t0143g0226
a0001c0002t0149g0202
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0001c0011t0051g0091
a0001c0014t0135g0166
a0001c0015t0126g0149
a0001c0016t0052g0099
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0017g0179
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0018g0231
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0073g0068
a0002c0003t0085g0184
a0002c0003t0089g0175
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0099g0192
a0002c0003t0104g0208
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0145g0187
a0002c0003t0146g0170
a0002c0003t0148g0174
a0002c0003t0150g0191
a0002c0010t0038g0156
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
a0004c0008t0035g0203
a0004c0008t0036g0207
a0004c0008t0103g0227
a0004c0008t0124g0229
a0004c0008t0133g0232
a0004c0008t0142g0228
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
a0006c0012t0129g0140
a0007c0013t0132g0163
 230 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(227): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00621.hp1
HG00621.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02056.hp1
HG02056.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18955.hp1
NA18955.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18967.hp1
NA18967.hp2
NA18973.hp1
NA18973.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18990.hp1
NA18990.hp2
NA18994.hp1
NA18994.hp2
NA19000.hp1
NA19000.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19087.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.168+1121G>A
c.168+1121G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 2/21 chr17 709412
chr17:709609 C
C
 G
G
 1 a0002c0003t0093g0173
a0002c0003t0093g0173
 1 HG01167.hp1
HG01167.hp1
 intron_variant MODIFIER c.168+924G>C
c.168+924G>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 2/21 chr17 709609
chr17:709625 C
C
 G
G
 14 a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
others(11): Show 
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0097g0199
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0105g0201
a0001c0001t0118g0195
a0001c0001t0134g0154
 14 HG01109.hp2
HG01346.hp2
HG01884.hp1
others(11): Show 
HG01109.hp2
HG01346.hp2
HG01884.hp1
HG01891.hp2
HG02572.hp2
HG02622.hp1
HG02622.hp2
HG02723.hp2
HG02818.hp1
HG02922.hp2
HG03139.hp1
HG03139.hp2
NA20129.hp2
NA20300.hp1
 intron_variant MODIFIER c.168+908G>C
c.168+908G>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 2/21 chr17 709625
chr17:709807 C
C
 T
T
 30 a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
others(27): Show 
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
 30 HG01257.hp2
HG01516.hp2
HG01517.hp1
others(27): Show 
HG01257.hp2
HG01516.hp2
HG01517.hp1
HG02074.hp1
HG02109.hp1
HG03831.hp2
NA18612.hp2
NA18906.hp1
NA18945.hp1
NA18950.hp2
NA18957.hp1
NA18959.hp1
NA18961.hp2
NA18962.hp1
NA18977.hp1
NA18978.hp1
NA18984.hp1
NA18986.hp2
NA18990.hp1
NA18994.hp1
NA19011.hp2
NA19060.hp1
NA19064.hp1
NA19068.hp1
NA19080.hp1
NA19081.hp1
NA19087.hp2
NA19091.hp2
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.168+726G>A
c.168+726G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 2/21 chr17 709807
chr17:709838 C
C
 T
T
 30 a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
others(27): Show 
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
 30 HG01257.hp2
HG01516.hp2
HG01517.hp1
others(27): Show 
HG01257.hp2
HG01516.hp2
HG01517.hp1
HG02074.hp1
HG02109.hp1
HG03831.hp2
NA18612.hp2
NA18906.hp1
NA18945.hp1
NA18950.hp2
NA18957.hp1
NA18959.hp1
NA18961.hp2
NA18962.hp1
NA18977.hp1
NA18978.hp1
NA18984.hp1
NA18986.hp2
NA18990.hp1
NA18994.hp1
NA19011.hp2
NA19060.hp1
NA19064.hp1
NA19068.hp1
NA19080.hp1
NA19081.hp1
NA19087.hp2
NA19091.hp2
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.168+695G>A
c.168+695G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 2/21 chr17 709838
chr17:710046 G
G
 A
A
 10 a0001c0001t0117g0230
a0001c0007t0011g0105
a0001c0007t0011g0106
others(7): Show 
a0001c0001t0117g0230
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
 10 HG01081.hp2
HG01175.hp2
HG01192.hp2
others(7): Show 
HG01081.hp2
HG01175.hp2
HG01192.hp2
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01928.hp2
HG01978.hp2
HG02293.hp2
HG02300.hp2
 intron_variant MODIFIER c.168+487C>T
c.168+487C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 2/21 chr17 710046
chr17:710080 C
C
 G
G
 30 a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
others(27): Show 
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
 30 HG01257.hp2
HG01516.hp2
HG01517.hp1
others(27): Show 
HG01257.hp2
HG01516.hp2
HG01517.hp1
HG02074.hp1
HG02109.hp1
HG03831.hp2
NA18612.hp2
NA18906.hp1
NA18945.hp1
NA18950.hp2
NA18957.hp1
NA18959.hp1
NA18961.hp2
NA18962.hp1
NA18977.hp1
NA18978.hp1
NA18984.hp1
NA18986.hp2
NA18990.hp1
NA18994.hp1
NA19011.hp2
NA19060.hp1
NA19064.hp1
NA19068.hp1
NA19080.hp1
NA19081.hp1
NA19087.hp2
NA19091.hp2
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.168+453G>C
c.168+453G>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 2/21 chr17 710080
chr17:710261 A
A
 C
C
 34 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(31): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0034g0126
a0001c0001t0069g0012
a0001c0001t0094g0129
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0110g0127
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0123g0123
a0001c0001t0128g0132
a0006c0012t0129g0140
 34 HG00423.hp2
HG00741.hp2
HG01255.hp2
others(31): Show 
HG00423.hp2
HG00741.hp2
HG01255.hp2
HG01256.hp2
HG01361.hp2
HG01884.hp2
HG02040.hp2
HG02056.hp2
HG02083.hp2
HG02109.hp2
HG02129.hp2
HG02132.hp2
HG02280.hp2
HG02602.hp2
HG03492.hp2
HG03688.hp2
HG04184.hp2
HG04199.hp2
NA18940.hp2
NA18945.hp2
NA18950.hp1
NA18961.hp1
NA18967.hp2
NA18978.hp2
NA18983.hp2
NA18987.hp2
NA19009.hp2
NA19060.hp2
NA19065.hp2
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19079.hp2
NA19081.hp2
 intron_variant MODIFIER c.168+272T>G
c.168+272T>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 2/21 chr17 710261
chr17:710345 C
C
 T
T
 14 a0001c0002t0017g0225
a0001c0002t0035g0219
a0001c0002t0038g0224
others(11): Show 
a0001c0002t0017g0225
a0001c0002t0035g0219
a0001c0002t0038g0224
a0001c0002t0050g0049
a0001c0002t0086g0221
a0001c0002t0100g0223
a0001c0002t0109g0222
a0001c0002t0143g0226
a0001c0002t0149g0202
a0004c0008t0035g0203
a0004c0008t0103g0227
a0004c0008t0124g0229
a0004c0008t0133g0232
a0004c0008t0142g0228
 14 HG00099.hp1
HG00140.hp1
HG00438.hp1
others(11): Show 
HG00099.hp1
HG00140.hp1
HG00438.hp1
HG01346.hp1
HG01516.hp1
HG02145.hp1
HG02280.hp1
HG03942.hp2
HG04184.hp1
NA18944.hp2
NA18973.hp2
NA18990.hp2
NA19011.hp1
NA19066.hp1
 intron_variant MODIFIER c.168+188G>A
c.168+188G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 2/21 chr17 710345
chr17:710679 T
T
 C
C
 1 a0002c0003t0099g0192
a0002c0003t0099g0192
 1 HG00438.hp2
HG00438.hp2
 intron_variant MODIFIER c.88-66A>G
c.88-66A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 1/21 chr17 710679
chr17:710767 G
G
 A
A
 10 a0001c0001t0117g0230
a0001c0007t0011g0105
a0001c0007t0011g0106
others(7): Show 
a0001c0001t0117g0230
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
 10 HG01081.hp2
HG01175.hp2
HG01192.hp2
others(7): Show 
HG01081.hp2
HG01175.hp2
HG01192.hp2
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01928.hp2
HG01978.hp2
HG02293.hp2
HG02300.hp2
 intron_variant MODIFIER c.88-154C>T
c.88-154C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 1/21 chr17 710767
chr17:710774 C
C
 A
A
 21 a0001c0001t0117g0230
a0001c0006t0001g0113
a0001c0006t0021g0100
others(18): Show 
a0001c0001t0117g0230
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0001c0016t0052g0099
 21 HG00099.hp2
HG00280.hp2
HG01081.hp2
others(18): Show 
HG00099.hp2
HG00280.hp2
HG01081.hp2
HG01099.hp2
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp2
HG01928.hp2
HG01978.hp2
HG01981.hp2
HG02293.hp2
HG02300.hp2
HG03491.hp1
HG03492.hp1
HG03688.hp1
NA18948.hp1
 intron_variant MODIFIER c.88-161G>T
c.88-161G>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 1/21 chr17 710774
chr17:710985 G
G
 A
A
 1 a0001c0001t0121g0143
a0001c0001t0121g0143
 1 HG04199.hp2
HG04199.hp2
 intron_variant MODIFIER c.88-372C>T
c.88-372C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 1/21 chr17 710985
chr17:711101 G
G
 A
A
 1 a0002c0003t0018g0214
a0002c0003t0018g0214
 1 HG00621.hp1
HG00621.hp1
 intron_variant MODIFIER c.88-488C>T
c.88-488C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 1/21 chr17 711101
chr17:711141 T
T
 A
A
 42 a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
others(39): Show 
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0002c0003t0073g0068
 42 HG00140.hp2
HG00280.hp1
HG00323.hp1
others(39): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp1
HG00621.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01106.hp1
HG01167.hp2
HG01168.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01361.hp1
HG01496.hp1
HG01978.hp1
HG02135.hp1
HG02738.hp1
HG02886.hp1
HG04204.hp2
NA18906.hp2
NA18940.hp1
NA18944.hp1
NA18946.hp2
NA18948.hp2
NA18959.hp2
NA18960.hp1
NA18962.hp2
NA18967.hp1
NA18973.hp1
NA18977.hp2
NA18979.hp1
NA19007.hp1
NA19009.hp1
NA19065.hp1
NA19070.hp1
NA19079.hp1
NA19084.hp1
NA19090.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.88-528A>T
c.88-528A>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 1/21 chr17 711141
chr17:711165 C
C
 T
T
 39 a0001c0002t0125g0116
a0002c0003t0008g0180
a0002c0003t0008g0182
others(36): Show 
a0001c0002t0125g0116
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0017g0179
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0018g0231
a0002c0003t0027g0169
a0002c0003t0027g0181
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0037g0168
a0002c0003t0085g0184
a0002c0003t0089g0175
a0002c0003t0090g0171
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0099g0192
a0002c0003t0104g0208
a0002c0003t0131g0193
a0002c0003t0136g0216
a0002c0003t0139g0167
a0002c0003t0140g0194
a0002c0003t0144g0215
a0002c0003t0145g0187
a0002c0003t0146g0170
a0002c0003t0148g0174
a0002c0003t0150g0191
a0004c0008t0036g0207
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
 39 HG00323.hp2
HG00423.hp1
HG00438.hp2
others(36): Show 
HG00323.hp2
HG00423.hp1
HG00438.hp2
HG00621.hp1
HG01070.hp2
HG01071.hp1
HG01099.hp1
HG01167.hp1
HG01928.hp1
HG01981.hp1
HG02040.hp1
HG02056.hp1
HG02074.hp2
HG02083.hp1
HG02129.hp1
HG02132.hp1
HG02293.hp1
HG02300.hp1
HG02738.hp2
HG03491.hp2
HG03831.hp1
HG03942.hp1
HG04199.hp1
NA18612.hp1
NA18946.hp1
NA18955.hp1
NA18957.hp2
NA18979.hp2
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA19000.hp1
NA19007.hp2
NA19010.hp1
NA19066.hp2
NA19074.hp1
NA19080.hp2
NA19084.hp2
NA19090.hp2
 intron_variant MODIFIER c.88-552G>A
c.88-552G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 1/21 chr17 711165
chr17:711254 C
C
 G
G
 30 a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
others(27): Show 
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
 30 HG01257.hp2
HG01516.hp2
HG01517.hp1
others(27): Show 
HG01257.hp2
HG01516.hp2
HG01517.hp1
HG02074.hp1
HG02109.hp1
HG03831.hp2
NA18612.hp2
NA18906.hp1
NA18945.hp1
NA18950.hp2
NA18957.hp1
NA18959.hp1
NA18961.hp2
NA18962.hp1
NA18977.hp1
NA18978.hp1
NA18984.hp1
NA18986.hp2
NA18990.hp1
NA18994.hp1
NA19011.hp2
NA19060.hp1
NA19064.hp1
NA19068.hp1
NA19080.hp1
NA19081.hp1
NA19087.hp2
NA19091.hp2
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.88-641G>C
c.88-641G>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 1/21 chr17 711254
chr17:711559 C
C
 T
T
 14 a0001c0002t0017g0225
a0001c0002t0035g0219
a0001c0002t0038g0224
others(11): Show 
a0001c0002t0017g0225
a0001c0002t0035g0219
a0001c0002t0038g0224
a0001c0002t0050g0049
a0001c0002t0086g0221
a0001c0002t0100g0223
a0001c0002t0109g0222
a0001c0002t0143g0226
a0001c0002t0149g0202
a0004c0008t0035g0203
a0004c0008t0103g0227
a0004c0008t0124g0229
a0004c0008t0133g0232
a0004c0008t0142g0228
 14 HG00099.hp1
HG00140.hp1
HG00438.hp1
others(11): Show 
HG00099.hp1
HG00140.hp1
HG00438.hp1
HG01346.hp1
HG01516.hp1
HG02145.hp1
HG02280.hp1
HG03942.hp2
HG04184.hp1
NA18944.hp2
NA18973.hp2
NA18990.hp2
NA19011.hp1
NA19066.hp1
 intron_variant MODIFIER c.88-946G>A
c.88-946G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 1/21 chr17 711559
chr17:711592 G
G
 C
C
 1 a0001c0001t0111g0164
a0001c0001t0111g0164
 1 HG02895.hp2
HG02895.hp2
 intron_variant MODIFIER c.88-979C>G
c.88-979C>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 1/21 chr17 711592
chr17:711646 T
T
 A
A
 1 a0002c0003t0090g0171
a0002c0003t0090g0171
 1 NA18612.hp1
NA18612.hp1
 intron_variant MODIFIER c.88-1033A>T
c.88-1033A>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 1/21 chr17 711646
chr17:711675 T
T
 G
G
 9 a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
others(6): Show 
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
 9 HG02135.hp2
HG02602.hp1
NA18747.hp1
others(6): Show 
HG02135.hp2
HG02602.hp1
NA18747.hp1
NA18960.hp2
NA18994.hp2
NA19000.hp2
NA19010.hp2
NA19087.hp1
NA19091.hp1
 intron_variant MODIFIER c.88-1062A>C
c.88-1062A>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 1/21 chr17 711675
chr17:711817 A
A
 AT
AT
 60 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(57): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0017g0158
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0034g0126
a0001c0001t0034g0162
a0001c0001t0069g0012
a0001c0001t0094g0129
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0110g0127
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0122g0160
a0001c0001t0123g0123
a0001c0001t0127g0159
a0001c0001t0128g0132
a0001c0001t0138g0161
a0001c0002t0022g0085
a0001c0002t0058g0052
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0007t0070g0112
a0001c0014t0135g0166
a0002c0003t0018g0172
a0002c0003t0018g0231
a0002c0003t0104g0208
a0002c0003t0144g0215
a0004c0008t0036g0207
a0006c0012t0129g0140
a0007c0013t0132g0163
 60 HG00423.hp1
HG00423.hp2
HG00741.hp1
others(57): Show 
HG00423.hp1
HG00423.hp2
HG00741.hp1
HG00741.hp2
HG01106.hp2
HG01175.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01884.hp2
HG01891.hp1
HG02040.hp2
HG02056.hp2
HG02083.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp2
HG02135.hp2
HG02280.hp2
HG02572.hp1
HG02602.hp1
HG02602.hp2
HG02738.hp2
HG02886.hp2
HG02895.hp2
HG03225.hp1
HG03492.hp2
HG03688.hp2
HG03942.hp1
HG04184.hp2
HG04199.hp2
HG04204.hp1
NA18747.hp1
NA18940.hp1
NA18940.hp2
NA18945.hp2
NA18950.hp1
NA18960.hp2
NA18961.hp1
NA18967.hp2
NA18978.hp2
NA18979.hp1
NA18983.hp2
NA18987.hp1
NA18987.hp2
NA18994.hp2
NA19009.hp2
NA19010.hp2
NA19060.hp2
NA19065.hp2
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19079.hp2
NA19081.hp2
NA19087.hp1
NA19091.hp1
NA20129.hp1
 intron_variant MODIFIER c.88-1205dupA
c.88-1205dupA
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 1/21 chr17 711817
chr17:711817 AT
AT
 A
A
 36 a0001c0001t0108g0148
a0001c0002t0078g0041
a0001c0006t0039g0003
others(33): Show 
a0001c0001t0108g0148
a0001c0002t0078g0041
a0001c0006t0039g0003
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
a0004c0008t0035g0203
a0004c0008t0103g0227
a0004c0008t0124g0229
a0004c0008t0133g0232
a0004c0008t0142g0228
 36 HG01192.hp1
HG01515.hp2
HG01516.hp2
others(33): Show 
HG01192.hp1
HG01515.hp2
HG01516.hp2
HG01517.hp1
HG02074.hp1
HG02109.hp1
HG03516.hp2
HG03831.hp2
HG04184.hp1
NA18612.hp2
NA18906.hp1
NA18945.hp1
NA18950.hp2
NA18957.hp1
NA18959.hp1
NA18961.hp2
NA18973.hp2
NA18977.hp1
NA18978.hp1
NA18984.hp1
NA18986.hp2
NA18990.hp1
NA18990.hp2
NA18994.hp1
NA19011.hp1
NA19011.hp2
NA19060.hp1
NA19064.hp1
NA19066.hp1
NA19068.hp1
NA19080.hp1
NA19081.hp1
NA19087.hp2
NA19091.hp2
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.88-1205delA
c.88-1205delA
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 1/21 chr17 711817
chr17:711957 C
C
 A
A
 3 a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0134g0154
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0134g0154
 3 HG01891.hp2
NA20129.hp2
NA20300.hp1
HG01891.hp2
NA20129.hp2
NA20300.hp1
 intron_variant MODIFIER c.88-1344G>T
c.88-1344G>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 1/21 chr17 711957
chr17:711979 G
G
 A
A
 1 a0003c0004t0060g0039
a0003c0004t0060g0039
 1 HG03831.hp2
HG03831.hp2
 intron_variant MODIFIER c.88-1366C>T
c.88-1366C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 1/21 chr17 711979
chr17:712116 T
T
 G
G
 15 a0001c0002t0017g0225
a0001c0002t0035g0219
a0001c0002t0038g0224
others(12): Show 
a0001c0002t0017g0225
a0001c0002t0035g0219
a0001c0002t0038g0224
a0001c0002t0050g0049
a0001c0002t0086g0221
a0001c0002t0100g0223
a0001c0002t0109g0222
a0001c0002t0143g0226
a0001c0002t0149g0202
a0001c0014t0135g0166
a0004c0008t0035g0203
a0004c0008t0103g0227
a0004c0008t0124g0229
a0004c0008t0133g0232
a0004c0008t0142g0228
 15 HG00099.hp1
HG00140.hp1
HG00438.hp1
others(12): Show 
HG00099.hp1
HG00140.hp1
HG00438.hp1
HG01346.hp1
HG01516.hp1
HG02145.hp1
HG02280.hp1
HG02572.hp1
HG03942.hp2
HG04184.hp1
NA18944.hp2
NA18973.hp2
NA18990.hp2
NA19011.hp1
NA19066.hp1
 intron_variant MODIFIER c.88-1503A>C
c.88-1503A>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 1/21 chr17 712116
chr17:712174 C
C
 T
T
 30 a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
others(27): Show 
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
 30 HG01257.hp2
HG01516.hp2
HG01517.hp1
others(27): Show 
HG01257.hp2
HG01516.hp2
HG01517.hp1
HG02074.hp1
HG02109.hp1
HG03831.hp2
NA18612.hp2
NA18906.hp1
NA18945.hp1
NA18950.hp2
NA18957.hp1
NA18959.hp1
NA18961.hp2
NA18962.hp1
NA18977.hp1
NA18978.hp1
NA18984.hp1
NA18986.hp2
NA18990.hp1
NA18994.hp1
NA19011.hp2
NA19060.hp1
NA19064.hp1
NA19068.hp1
NA19080.hp1
NA19081.hp1
NA19087.hp2
NA19091.hp2
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.88-1561G>A
c.88-1561G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 1/21 chr17 712174
chr17:712177 C
C
 CT
CT
 18 a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
others(15): Show 
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0084g0046
a0001c0001t0087g0198
a0001c0001t0097g0199
a0001c0001t0118g0195
a0001c0001t0134g0154
a0001c0002t0048g0089
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0006t0041g0001
a0001c0006t0068g0098
a0001c0006t0074g0097
a0003c0004t0004g0014
 18 HG01099.hp2
HG01175.hp1
HG01346.hp2
others(15): Show 
HG01099.hp2
HG01175.hp1
HG01346.hp2
HG01891.hp2
HG02622.hp1
HG02622.hp2
HG02723.hp2
HG02818.hp1
HG02922.hp2
HG03139.hp2
HG03516.hp1
NA18948.hp1
NA18957.hp1
NA18973.hp1
NA19070.hp1
NA19090.hp1
NA20129.hp2
NA20300.hp1
 intron_variant MODIFIER c.88-1565dupA
c.88-1565dupA
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 1/21 chr17 712177
chr17:712177 CT
CT
 C
C
 90 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(87): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0032g0114
a0001c0001t0034g0126
a0001c0001t0069g0012
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0098g0147
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0108g0148
a0001c0001t0110g0127
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0123g0123
a0001c0001t0128g0132
a0001c0002t0017g0225
a0001c0002t0035g0219
a0001c0002t0038g0224
a0001c0002t0050g0049
a0001c0002t0086g0221
a0001c0002t0100g0223
a0001c0002t0109g0222
a0001c0002t0125g0116
a0001c0002t0143g0226
a0001c0002t0149g0202
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0002c0003t0008g0180
a0002c0003t0008g0182
a0002c0003t0008g0183
a0002c0003t0008g0217
a0002c0003t0009g0185
a0002c0003t0009g0186
a0002c0003t0009g0188
a0002c0003t0009g0218
a0002c0003t0017g0179
a0002c0003t0018g0172
a0002c0003t0018g0214
a0002c0003t0027g0181
a0002c0003t0036g0176
a0002c0003t0037g0115
a0002c0003t0085g0184
a0002c0003t0089g0175
a0002c0003t0091g0209
a0002c0003t0092g0190
a0002c0003t0093g0173
a0002c0003t0099g0192
a0002c0003t0104g0208
a0002c0003t0136g0216
a0002c0003t0144g0215
a0002c0003t0145g0187
a0002c0003t0148g0174
a0002c0003t0150g0191
a0003c0004t0004g0040
a0004c0008t0035g0203
a0004c0008t0036g0207
a0004c0008t0103g0227
a0004c0008t0124g0229
a0004c0008t0133g0232
a0004c0008t0142g0228
a0005c0009t0130g0178
a0005c0009t0137g0189
a0005c0009t0147g0177
a0006c0012t0129g0140
 90 HG00099.hp1
HG00140.hp1
HG00323.hp2
others(87): Show 
HG00099.hp1
HG00140.hp1
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00621.hp1
HG00741.hp2
HG01099.hp1
HG01167.hp1
HG01192.hp1
HG01255.hp2
HG01256.hp2
HG01346.hp1
HG01361.hp2
HG01516.hp1
HG01884.hp2
HG01928.hp1
HG01981.hp1
HG02040.hp1
HG02040.hp2
HG02056.hp1
HG02056.hp2
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02300.hp1
HG02602.hp1
HG02602.hp2
HG02738.hp2
HG02818.hp2
HG02895.hp1
HG03225.hp2
HG03491.hp2
HG03492.hp2
HG03688.hp2
HG03831.hp1
HG03942.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
NA18747.hp1
NA18944.hp2
NA18945.hp2
NA18946.hp1
NA18950.hp1
NA18955.hp1
NA18957.hp2
NA18960.hp2
NA18961.hp1
NA18973.hp2
NA18978.hp2
NA18979.hp2
NA18983.hp2
NA18984.hp1
NA18986.hp1
NA18987.hp1
NA18990.hp2
NA18994.hp2
NA19000.hp2
NA19007.hp2
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19060.hp2
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp2
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp2
NA19080.hp2
NA19081.hp2
NA19084.hp2
NA19087.hp1
NA20300.hp2
 intron_variant MODIFIER c.88-1565delA
c.88-1565delA
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 1/21 chr17 712177
chr17:712177 CTT
CTT
 C
C
 17 a0001c0001t0017g0158
a0001c0001t0033g0205
a0001c0001t0033g0206
others(14): Show 
a0001c0001t0017g0158
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0034g0162
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0119g0144
a0001c0001t0122g0160
a0001c0001t0127g0159
a0001c0001t0138g0161
a0001c0001t0141g0165
a0001c0005t0020g0010
a0001c0014t0135g0166
a0002c0003t0131g0193
a0002c0003t0140g0194
a0002c0010t0038g0156
a0007c0013t0132g0163
 17 HG00741.hp1
HG01070.hp2
HG01071.hp1
others(14): Show 
HG00741.hp1
HG01070.hp2
HG01071.hp1
HG01106.hp2
HG01109.hp1
HG01257.hp1
HG01258.hp2
HG01891.hp1
HG02572.hp1
HG02886.hp2
HG02895.hp2
HG03225.hp1
HG04204.hp1
NA18987.hp2
NA19091.hp1
NA20129.hp1
NA21309.hp1
 intron_variant MODIFIER c.88-1566_88-1565del
others(2): Show 
c.88-1566_88-1565delAA
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 1/21 chr17 712177
chr17:712199 G
G
 C
C
 1 a0001c0002t0077g0095
a0001c0002t0077g0095
 1 NA19064.hp2
NA19064.hp2
 intron_variant MODIFIER c.88-1586C>G
c.88-1586C>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 1/21 chr17 712199
chr17:712238 T
T
 C
C
 14 a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
others(11): Show 
a0001c0001t0028g0196
a0001c0001t0028g0197
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0087g0198
a0001c0001t0088g0152
a0001c0001t0097g0199
a0001c0001t0101g0200
a0001c0001t0102g0220
a0001c0001t0105g0201
a0001c0001t0118g0195
a0001c0001t0134g0154
 14 HG01109.hp2
HG01346.hp2
HG01884.hp1
others(11): Show 
HG01109.hp2
HG01346.hp2
HG01884.hp1
HG01891.hp2
HG02572.hp2
HG02622.hp1
HG02622.hp2
HG02723.hp2
HG02818.hp1
HG02922.hp2
HG03139.hp1
HG03139.hp2
NA20129.hp2
NA20300.hp1
 intron_variant MODIFIER c.88-1625A>G
c.88-1625A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 1/21 chr17 712238
chr17:712320 C
C
 T
T
 54 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(51): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0017g0158
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0032g0114
a0001c0001t0032g0204
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0001t0034g0126
a0001c0001t0034g0162
a0001c0001t0069g0012
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0098g0147
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0108g0148
a0001c0001t0110g0127
a0001c0001t0111g0164
a0001c0001t0112g0157
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0122g0160
a0001c0001t0123g0123
a0001c0001t0127g0159
a0001c0001t0128g0132
a0001c0001t0138g0161
a0001c0001t0141g0165
a0001c0014t0135g0166
a0001c0015t0126g0149
a0002c0010t0038g0156
a0006c0012t0129g0140
a0007c0013t0132g0163
 54 HG00423.hp2
HG00741.hp1
HG00741.hp2
others(51): Show 
HG00423.hp2
HG00741.hp1
HG00741.hp2
HG01106.hp2
HG01109.hp1
HG01192.hp1
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01361.hp2
HG01884.hp2
HG01891.hp1
HG02040.hp2
HG02056.hp2
HG02083.hp2
HG02109.hp2
HG02129.hp2
HG02132.hp2
HG02280.hp2
HG02572.hp1
HG02602.hp2
HG02723.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG03225.hp1
HG03225.hp2
HG03492.hp2
HG03688.hp2
HG04184.hp2
HG04199.hp2
HG04204.hp1
NA18940.hp2
NA18945.hp2
NA18950.hp1
NA18961.hp1
NA18967.hp2
NA18978.hp2
NA18983.hp2
NA18987.hp2
NA19009.hp2
NA19060.hp2
NA19065.hp2
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19079.hp2
NA19081.hp2
NA20129.hp1
NA20300.hp2
NA21309.hp1
 intron_variant MODIFIER c.88-1707G>A
c.88-1707G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 1/21 chr17 712320
chr17:712652 A
A
 T
T
 9 a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
others(6): Show 
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
 9 HG02135.hp2
HG02602.hp1
NA18747.hp1
others(6): Show 
HG02135.hp2
HG02602.hp1
NA18747.hp1
NA18960.hp2
NA18994.hp2
NA19000.hp2
NA19010.hp2
NA19087.hp1
NA19091.hp1
 intron_variant MODIFIER c.87+1971T>A
c.87+1971T>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 1/21 chr17 712652
chr17:712875 C
C
 T
T
 1 a0002c0010t0038g0156
a0002c0010t0038g0156
 1 NA21309.hp1
NA21309.hp1
 intron_variant MODIFIER c.87+1748G>A
c.87+1748G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 1/21 chr17 712875
chr17:712880 G
G
 C
C
 1 a0001c0002t0013g0083
a0001c0002t0013g0083
 1 NA20805.hp2
NA20805.hp2
 intron_variant MODIFIER c.87+1743C>G
c.87+1743C>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 1/21 chr17 712880
chr17:712988 T
T
 C
C
 1 a0001c0001t0106g0117
a0001c0001t0106g0117
 1 HG02109.hp2
HG02109.hp2
 intron_variant MODIFIER c.87+1635A>G
c.87+1635A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 1/21 chr17 712988
chr17:713021 A
A
 G
G
 34 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(31): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0011g0013
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0034g0126
a0001c0001t0069g0012
a0001c0001t0094g0129
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0110g0127
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0123g0123
a0001c0001t0128g0132
a0006c0012t0129g0140
 34 HG00423.hp2
HG00741.hp2
HG01255.hp2
others(31): Show 
HG00423.hp2
HG00741.hp2
HG01255.hp2
HG01256.hp2
HG01361.hp2
HG01884.hp2
HG02040.hp2
HG02056.hp2
HG02083.hp2
HG02109.hp2
HG02129.hp2
HG02132.hp2
HG02280.hp2
HG02602.hp2
HG03492.hp2
HG03688.hp2
HG04184.hp2
HG04199.hp2
NA18940.hp2
NA18945.hp2
NA18950.hp1
NA18961.hp1
NA18967.hp2
NA18978.hp2
NA18983.hp2
NA18987.hp2
NA19009.hp2
NA19060.hp2
NA19065.hp2
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19079.hp2
NA19081.hp2
 intron_variant MODIFIER c.87+1602T>C
c.87+1602T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 1/21 chr17 713021
chr17:713037 C
C
 T
T
 1 a0002c0003t0018g0214
a0002c0003t0018g0214
 1 HG00621.hp1
HG00621.hp1
 intron_variant MODIFIER c.87+1586G>A
c.87+1586G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 1/21 chr17 713037
chr17:713093 C
C
 T
T
 3 a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0134g0154
a0001c0001t0031g0153
a0001c0001t0031g0155
a0001c0001t0134g0154
 3 HG01891.hp2
NA20129.hp2
NA20300.hp1
HG01891.hp2
NA20129.hp2
NA20300.hp1
 intron_variant MODIFIER c.87+1530G>A
c.87+1530G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 1/21 chr17 713093
chr17:713423 C
C
 T
T
 3 a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0088g0152
a0001c0001t0029g0150
a0001c0001t0029g0151
a0001c0001t0088g0152
 3 HG01884.hp1
HG02622.hp2
HG03139.hp2
HG01884.hp1
HG02622.hp2
HG03139.hp2
 intron_variant MODIFIER c.87+1200G>A
c.87+1200G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 1/21 chr17 713423
chr17:713432 A
A
 C
C
 1 a0001c0001t0106g0117
a0001c0001t0106g0117
 1 HG02109.hp2
HG02109.hp2
 intron_variant MODIFIER c.87+1191T>G
c.87+1191T>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 1/21 chr17 713432
chr17:713481 G
G
 A
A
 30 a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
others(27): Show 
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
 30 HG01257.hp2
HG01516.hp2
HG01517.hp1
others(27): Show 
HG01257.hp2
HG01516.hp2
HG01517.hp1
HG02074.hp1
HG02109.hp1
HG03831.hp2
NA18612.hp2
NA18906.hp1
NA18945.hp1
NA18950.hp2
NA18957.hp1
NA18959.hp1
NA18961.hp2
NA18962.hp1
NA18977.hp1
NA18978.hp1
NA18984.hp1
NA18986.hp2
NA18990.hp1
NA18994.hp1
NA19011.hp2
NA19060.hp1
NA19064.hp1
NA19068.hp1
NA19080.hp1
NA19081.hp1
NA19087.hp2
NA19091.hp2
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.87+1142C>T
c.87+1142C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 1/21 chr17 713481
chr17:713647 G
G
 A
A
 1 a0001c0002t0055g0084
a0001c0002t0055g0084
 1 NA18906.hp2
NA18906.hp2
 intron_variant MODIFIER c.87+976C>T
c.87+976C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 1/21 chr17 713647
chr17:713658 C
C
 CA
CA
 14 a0001c0002t0017g0225
a0001c0002t0038g0224
a0001c0002t0050g0049
others(11): Show 
a0001c0002t0017g0225
a0001c0002t0038g0224
a0001c0002t0050g0049
a0001c0002t0086g0221
a0001c0002t0100g0223
a0001c0002t0109g0222
a0001c0002t0143g0226
a0001c0002t0149g0202
a0001c0005t0046g0011
a0004c0008t0035g0203
a0004c0008t0103g0227
a0004c0008t0124g0229
a0004c0008t0133g0232
a0004c0008t0142g0228
 14 HG00099.hp1
HG00140.hp1
HG01346.hp1
others(11): Show 
HG00099.hp1
HG00140.hp1
HG01346.hp1
HG01516.hp1
HG02145.hp1
HG02280.hp1
HG03942.hp2
HG04184.hp1
NA18944.hp2
NA18973.hp2
NA18990.hp2
NA18994.hp2
NA19011.hp1
NA19066.hp1
 intron_variant MODIFIER c.87+964dupT
c.87+964dupT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 1/21 chr17 713658
chr17:713663 AAAAAGAA
others(6): Show 
AAAAAGAAAAAAAG
 A
A
 5 a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
others(2): Show 
a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0005t0080g0092
a0001c0011t0051g0091
 5 HG01074.hp2
NA18747.hp2
NA18955.hp2
others(2): Show 
HG01074.hp2
NA18747.hp2
NA18955.hp2
NA18984.hp2
NA19064.hp2
 intron_variant MODIFIER c.87+947_87+959delCT
others(11): Show 
c.87+947_87+959delCTTTTTTTCTTTT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 1/21 chr17 713663
chr17:713705 C
C
 T
T
 1 a0001c0015t0126g0149
a0001c0015t0126g0149
 1 HG02723.hp1
HG02723.hp1
 intron_variant MODIFIER c.87+918G>A
c.87+918G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 1/21 chr17 713705
chr17:713819 T
T
 C
C
 110 a0001c0001t0011g0013
a0001c0001t0069g0012
a0001c0001t0117g0230
others(107): Show 
a0001c0001t0011g0013
a0001c0001t0069g0012
a0001c0001t0117g0230
a0001c0002t0001g0045
a0001c0002t0001g0056
a0001c0002t0001g0066
a0001c0002t0001g0079
a0001c0002t0001g0080
a0001c0002t0001g0082
a0001c0002t0001g0090
a0001c0002t0001g0094
a0001c0002t0003g0053
a0001c0002t0003g0054
a0001c0002t0003g0072
a0001c0002t0005g0061
a0001c0002t0005g0065
a0001c0002t0007g0058
a0001c0002t0007g0062
a0001c0002t0007g0063
a0001c0002t0007g0081
a0001c0002t0010g0057
a0001c0002t0010g0087
a0001c0002t0013g0078
a0001c0002t0013g0083
a0001c0002t0014g0055
a0001c0002t0014g0074
a0001c0002t0014g0077
a0001c0002t0022g0085
a0001c0002t0024g0073
a0001c0002t0024g0088
a0001c0002t0025g0075
a0001c0002t0026g0059
a0001c0002t0026g0060
a0001c0002t0043g0064
a0001c0002t0048g0089
a0001c0002t0055g0084
a0001c0002t0058g0052
a0001c0002t0065g0093
a0001c0002t0066g0070
a0001c0002t0067g0076
a0001c0002t0072g0071
a0001c0002t0075g0051
a0001c0002t0076g0050
a0001c0002t0077g0095
a0001c0002t0078g0041
a0001c0002t0079g0086
a0001c0002t0082g0069
a0001c0002t0083g0067
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0006t0001g0113
a0001c0006t0021g0100
a0001c0006t0021g0101
a0001c0006t0039g0003
a0001c0006t0040g0002
a0001c0006t0041g0001
a0001c0006t0053g0102
a0001c0006t0057g0103
a0001c0006t0068g0098
a0001c0006t0074g0097
a0001c0007t0011g0105
a0001c0007t0011g0106
a0001c0007t0012g0108
a0001c0007t0012g0110
a0001c0007t0012g0111
a0001c0007t0023g0107
a0001c0007t0023g0109
a0001c0007t0062g0104
a0001c0007t0070g0112
a0001c0011t0051g0091
a0001c0016t0052g0099
a0002c0003t0073g0068
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
 110 HG00099.hp2
HG00140.hp2
HG00280.hp1
others(107): Show 
HG00099.hp2
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00621.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01106.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01255.hp1
HG01256.hp1
HG01257.hp2
HG01258.hp1
HG01361.hp1
HG01361.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01928.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp2
HG02074.hp1
HG02109.hp1
HG02135.hp1
HG02135.hp2
HG02293.hp2
HG02300.hp2
HG02602.hp1
HG02738.hp1
HG02886.hp1
HG03491.hp1
HG03492.hp1
HG03516.hp2
HG03688.hp1
HG03831.hp2
HG04204.hp2
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18944.hp1
NA18945.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp2
NA18955.hp2
NA18957.hp1
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18967.hp1
NA18973.hp1
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18979.hp1
NA18984.hp1
NA18984.hp2
NA18986.hp2
NA18990.hp1
NA18994.hp1
NA18994.hp2
NA19000.hp2
NA19007.hp1
NA19009.hp1
NA19010.hp2
NA19011.hp2
NA19060.hp1
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19068.hp1
NA19070.hp1
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19081.hp1
NA19084.hp1
NA19087.hp1
NA19087.hp2
NA19090.hp1
NA19091.hp1
NA19091.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.87+804A>G
c.87+804A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 1/21 chr17 713819
chr17:713876 A
A
 AC
AC
 45 a0001c0001t0011g0013
a0001c0001t0069g0012
a0001c0002t0001g0094
others(42): Show 
a0001c0001t0011g0013
a0001c0001t0069g0012
a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0011t0051g0091
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
 45 HG01074.hp2
HG01257.hp2
HG01361.hp2
others(42): Show 
HG01074.hp2
HG01257.hp2
HG01361.hp2
HG01516.hp2
HG01517.hp1
HG02074.hp1
HG02109.hp1
HG02135.hp2
HG02602.hp1
HG03831.hp2
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18945.hp1
NA18950.hp2
NA18955.hp2
NA18957.hp1
NA18959.hp1
NA18960.hp2
NA18961.hp2
NA18962.hp1
NA18977.hp1
NA18978.hp1
NA18984.hp1
NA18984.hp2
NA18986.hp2
NA18990.hp1
NA18994.hp1
NA18994.hp2
NA19010.hp2
NA19011.hp2
NA19060.hp1
NA19064.hp1
NA19064.hp2
NA19068.hp1
NA19079.hp2
NA19080.hp1
NA19081.hp1
NA19087.hp1
NA19087.hp2
NA19091.hp1
NA19091.hp2
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.87+746dupG
c.87+746dupG
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 1/21 chr17 713876
chr17:713880 C
C
 CA
CA
 13 a0001c0001t0032g0204
a0001c0001t0033g0205
a0001c0001t0033g0206
others(10): Show 
a0001c0001t0032g0204
a0001c0001t0033g0205
a0001c0001t0033g0206
a0001c0002t0001g0090
a0001c0002t0022g0085
a0001c0002t0048g0089
a0001c0002t0079g0086
a0001c0007t0012g0111
a0002c0003t0018g0231
a0002c0003t0091g0209
a0002c0003t0104g0208
a0004c0008t0036g0207
a0004c0008t0133g0232
 13 HG00423.hp1
HG01106.hp1
HG01978.hp2
others(10): Show 
HG00423.hp1
HG01106.hp1
HG01978.hp2
HG02300.hp1
HG02738.hp1
HG02886.hp2
HG02922.hp1
HG03225.hp1
HG03942.hp1
NA18940.hp1
NA18987.hp1
NA19011.hp1
NA19090.hp1
 intron_variant MODIFIER c.87+742dupT
c.87+742dupT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 1/21 chr17 713880
chr17:713880 CA
CA
 C
C
 37 a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
others(34): Show 
a0001c0001t0002g0121
a0001c0001t0002g0128
a0001c0001t0002g0133
a0001c0001t0002g0134
a0001c0001t0002g0137
a0001c0001t0002g0139
a0001c0001t0002g0141
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0015g0130
a0001c0001t0015g0131
a0001c0001t0015g0135
a0001c0001t0016g0118
a0001c0001t0016g0124
a0001c0001t0016g0125
a0001c0001t0030g0119
a0001c0001t0030g0120
a0001c0001t0032g0114
a0001c0001t0034g0126
a0001c0001t0094g0129
a0001c0001t0095g0145
a0001c0001t0096g0146
a0001c0001t0098g0147
a0001c0001t0106g0117
a0001c0001t0107g0212
a0001c0001t0108g0148
a0001c0001t0110g0127
a0001c0001t0113g0122
a0001c0001t0114g0142
a0001c0001t0115g0136
a0001c0001t0116g0138
a0001c0001t0119g0144
a0001c0001t0120g0211
a0001c0001t0121g0143
a0001c0001t0123g0123
a0001c0001t0128g0132
a0006c0012t0129g0140
 37 HG00423.hp2
HG00741.hp2
HG01192.hp1
others(34): Show 
HG00423.hp2
HG00741.hp2
HG01192.hp1
HG01255.hp2
HG01256.hp2
HG01884.hp2
HG02040.hp2
HG02056.hp2
HG02083.hp2
HG02109.hp2
HG02129.hp2
HG02132.hp2
HG02280.hp2
HG02602.hp2
HG02818.hp2
HG02895.hp1
HG03225.hp2
HG03492.hp2
HG03688.hp2
HG04184.hp2
HG04199.hp2
NA18940.hp2
NA18945.hp2
NA18950.hp1
NA18961.hp1
NA18967.hp2
NA18978.hp2
NA18983.hp2
NA18987.hp2
NA19009.hp2
NA19060.hp2
NA19065.hp2
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19081.hp2
NA20300.hp2
 intron_variant MODIFIER c.87+742delT
c.87+742delT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 1/21 chr17 713880
chr17:713881 A
A
 C
C
 46 a0001c0001t0011g0013
a0001c0001t0069g0012
a0001c0002t0001g0094
others(43): Show 
a0001c0001t0011g0013
a0001c0001t0069g0012
a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0011t0051g0091
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
 46 HG01074.hp2
HG01257.hp2
HG01361.hp2
others(43): Show 
HG01074.hp2
HG01257.hp2
HG01361.hp2
HG01516.hp2
HG01517.hp1
HG02074.hp1
HG02109.hp1
HG02135.hp2
HG02602.hp1
HG03831.hp2
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18945.hp1
NA18950.hp2
NA18955.hp2
NA18957.hp1
NA18959.hp1
NA18960.hp2
NA18961.hp2
NA18962.hp1
NA18977.hp1
NA18978.hp1
NA18984.hp1
NA18984.hp2
NA18986.hp2
NA18990.hp1
NA18994.hp1
NA18994.hp2
NA19000.hp2
NA19010.hp2
NA19011.hp2
NA19060.hp1
NA19064.hp1
NA19064.hp2
NA19068.hp1
NA19079.hp2
NA19080.hp1
NA19081.hp1
NA19087.hp1
NA19087.hp2
NA19091.hp1
NA19091.hp2
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.87+742T>G
c.87+742T>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 1/21 chr17 713881
chr17:713882 A
A
 C
C
 46 a0001c0001t0011g0013
a0001c0001t0069g0012
a0001c0002t0001g0094
others(43): Show 
a0001c0001t0011g0013
a0001c0001t0069g0012
a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0011t0051g0091
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
 46 HG01074.hp2
HG01257.hp2
HG01361.hp2
others(43): Show 
HG01074.hp2
HG01257.hp2
HG01361.hp2
HG01516.hp2
HG01517.hp1
HG02074.hp1
HG02109.hp1
HG02135.hp2
HG02602.hp1
HG03831.hp2
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18945.hp1
NA18950.hp2
NA18955.hp2
NA18957.hp1
NA18959.hp1
NA18960.hp2
NA18961.hp2
NA18962.hp1
NA18977.hp1
NA18978.hp1
NA18984.hp1
NA18984.hp2
NA18986.hp2
NA18990.hp1
NA18994.hp1
NA18994.hp2
NA19000.hp2
NA19010.hp2
NA19011.hp2
NA19060.hp1
NA19064.hp1
NA19064.hp2
NA19068.hp1
NA19079.hp2
NA19080.hp1
NA19081.hp1
NA19087.hp1
NA19087.hp2
NA19091.hp1
NA19091.hp2
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.87+741T>G
c.87+741T>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 1/21 chr17 713882
chr17:713883 A
A
 C
C
 13 a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
others(10): Show 
a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0011t0051g0091
 13 HG01074.hp2
HG02135.hp2
HG02602.hp1
others(10): Show 
HG01074.hp2
HG02135.hp2
HG02602.hp1
NA18747.hp1
NA18747.hp2
NA18955.hp2
NA18960.hp2
NA18984.hp2
NA18994.hp2
NA19010.hp2
NA19064.hp2
NA19087.hp1
NA19091.hp1
 intron_variant MODIFIER c.87+740T>G
c.87+740T>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 1/21 chr17 713883
chr17:713901 C
C
 T
T
 47 a0001c0001t0011g0013
a0001c0001t0069g0012
a0001c0002t0001g0094
others(44): Show 
a0001c0001t0011g0013
a0001c0001t0069g0012
a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0002t0078g0041
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0042g0044
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0001c0005t0080g0092
a0001c0011t0051g0091
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0003g0043
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0064g0042
a0003c0004t0071g0037
a0003c0004t0081g0035
 47 HG01074.hp2
HG01257.hp2
HG01361.hp2
others(44): Show 
HG01074.hp2
HG01257.hp2
HG01361.hp2
HG01516.hp2
HG01517.hp1
HG02074.hp1
HG02109.hp1
HG02135.hp2
HG02602.hp1
HG03516.hp2
HG03831.hp2
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18945.hp1
NA18950.hp2
NA18955.hp2
NA18957.hp1
NA18959.hp1
NA18960.hp2
NA18961.hp2
NA18962.hp1
NA18977.hp1
NA18978.hp1
NA18984.hp1
NA18984.hp2
NA18986.hp2
NA18990.hp1
NA18994.hp1
NA18994.hp2
NA19000.hp2
NA19010.hp2
NA19011.hp2
NA19060.hp1
NA19064.hp1
NA19064.hp2
NA19068.hp1
NA19079.hp2
NA19080.hp1
NA19081.hp1
NA19087.hp1
NA19087.hp2
NA19091.hp1
NA19091.hp2
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.87+722G>A
c.87+722G>A
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 1/21 chr17 713901
chr17:714038 C
C
 G
G
 1 a0001c0002t0125g0116
a0001c0002t0125g0116
 1 NA19007.hp2
NA19007.hp2
 intron_variant MODIFIER c.87+585G>C
c.87+585G>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 1/21 chr17 714038
chr17:714044 C
C
 CA
CA
 29 a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0102g0220
others(26): Show 
a0001c0001t0002g0210
a0001c0001t0002g0213
a0001c0001t0102g0220
a0001c0001t0107g0212
a0001c0001t0117g0230
a0001c0001t0120g0211
a0001c0002t0001g0090
a0001c0002t0010g0087
a0001c0002t0017g0225
a0001c0002t0024g0088
a0001c0002t0035g0219
a0001c0002t0038g0224
a0001c0002t0048g0089
a0001c0002t0086g0221
a0001c0002t0100g0223
a0001c0002t0109g0222
a0001c0002t0143g0226
a0001c0006t0001g0113
a0001c0007t0070g0112
a0002c0003t0008g0217
a0002c0003t0009g0218
a0002c0003t0018g0214
a0002c0003t0018g0231
a0002c0003t0136g0216
a0002c0003t0144g0215
a0004c0008t0103g0227
a0004c0008t0124g0229
a0004c0008t0133g0232
a0004c0008t0142g0228
 29 HG00099.hp1
HG00140.hp1
HG00438.hp1
others(26): Show 
HG00099.hp1
HG00140.hp1
HG00438.hp1
HG00621.hp1
HG01081.hp2
HG01099.hp1
HG01175.hp2
HG01255.hp2
HG01346.hp1
HG01361.hp1
HG01516.hp1
HG02056.hp1
HG02145.hp1
HG02572.hp2
HG02738.hp1
HG02738.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03942.hp1
HG04184.hp2
NA18940.hp2
NA18944.hp2
NA18973.hp2
NA18990.hp2
NA19011.hp1
NA19066.hp1
NA19084.hp1
NA19090.hp1
 intron_variant MODIFIER c.87+578dupT
c.87+578dupT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 1/21 chr17 714044
chr17:714044 CA
CA
 C
C
 5 a0001c0001t0032g0114
a0001c0002t0001g0045
a0001c0002t0001g0094
others(2): Show 
a0001c0001t0032g0114
a0001c0002t0001g0045
a0001c0002t0001g0094
a0001c0002t0077g0095
a0002c0003t0037g0115
 5 HG01070.hp1
HG02895.hp1
NA18747.hp2
others(2): Show 
HG01070.hp1
HG02895.hp1
NA18747.hp2
NA18986.hp1
NA19064.hp2
 intron_variant MODIFIER c.87+578delT
c.87+578delT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 1/21 chr17 714044
chr17:714044 CAA
CAA
 C
C
 6 a0001c0002t0065g0093
a0001c0005t0042g0044
a0001c0005t0080g0092
others(3): Show 
a0001c0002t0065g0093
a0001c0005t0042g0044
a0001c0005t0080g0092
a0001c0011t0051g0091
a0003c0004t0003g0043
a0003c0004t0064g0042
 6 HG01074.hp2
HG01516.hp2
HG01517.hp1
others(3): Show 
HG01074.hp2
HG01516.hp2
HG01517.hp1
NA18955.hp2
NA18984.hp2
NA19000.hp2
 intron_variant MODIFIER c.87+577_87+578delTT
c.87+577_87+578delTT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 1/21 chr17 714044
chr17:714044 CAAA
CAAA
 C
C
 39 a0001c0001t0011g0013
a0001c0001t0069g0012
a0001c0002t0078g0041
others(36): Show 
a0001c0001t0011g0013
a0001c0001t0069g0012
a0001c0002t0078g0041
a0001c0005t0010g0008
a0001c0005t0019g0006
a0001c0005t0019g0007
a0001c0005t0020g0005
a0001c0005t0020g0010
a0001c0005t0044g0096
a0001c0005t0045g0009
a0001c0005t0046g0011
a0003c0004t0003g0015
a0003c0004t0003g0018
a0003c0004t0003g0036
a0003c0004t0004g0014
a0003c0004t0004g0019
a0003c0004t0004g0021
a0003c0004t0004g0025
a0003c0004t0004g0026
a0003c0004t0004g0040
a0003c0004t0005g0027
a0003c0004t0005g0028
a0003c0004t0005g0030
a0003c0004t0006g0016
a0003c0004t0006g0022
a0003c0004t0006g0023
a0003c0004t0006g0024
a0003c0004t0006g0033
a0003c0004t0022g0004
a0003c0004t0025g0038
a0003c0004t0047g0017
a0003c0004t0054g0032
a0003c0004t0056g0020
a0003c0004t0059g0029
a0003c0004t0060g0039
a0003c0004t0061g0031
a0003c0004t0063g0034
a0003c0004t0071g0037
a0003c0004t0081g0035
 39 HG01257.hp2
HG01361.hp2
HG02074.hp1
others(36): Show 
HG01257.hp2
HG01361.hp2
HG02074.hp1
HG02109.hp1
HG02135.hp2
HG02602.hp1
HG03516.hp2
HG03831.hp2
NA18612.hp2
NA18747.hp1
NA18906.hp1
NA18945.hp1
NA18950.hp2
NA18957.hp1
NA18959.hp1
NA18960.hp2
NA18961.hp2
NA18962.hp1
NA18977.hp1
NA18978.hp1
NA18984.hp1
NA18986.hp2
NA18990.hp1
NA18994.hp1
NA18994.hp2
NA19010.hp2
NA19011.hp2
NA19060.hp1
NA19064.hp1
NA19068.hp1
NA19079.hp2
NA19080.hp1
NA19081.hp1
NA19087.hp1
NA19087.hp2
NA19091.hp1
NA19091.hp2
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.87+576_87+578delTT
others(1): Show 
c.87+576_87+578delTTT
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 1/21 chr17 714044
chr17:714157 A
A
 G
G
 1 a0003c0004t0022g0004
a0003c0004t0022g0004
 1 NA18961.hp2
NA18961.hp2
 intron_variant MODIFIER c.87+466T>C
c.87+466T>C
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 1/21 chr17 714157
chr17:714161 T
T
 C
C
 5 a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
others(2): Show 
a0001c0002t0001g0094
a0001c0002t0065g0093
a0001c0002t0077g0095
a0001c0005t0080g0092
a0001c0011t0051g0091
 5 HG01074.hp2
NA18747.hp2
NA18955.hp2
others(2): Show 
HG01074.hp2
NA18747.hp2
NA18955.hp2
NA18984.hp2
NA19064.hp2
 intron_variant MODIFIER c.87+462A>G
c.87+462A>G
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 1/21 chr17 714161
chr17:714329 G
G
 A
A
 1 a0001c0005t0044g0096
a0001c0005t0044g0096
 1 NA18960.hp2
NA18960.hp2
 intron_variant MODIFIER c.87+294C>T
c.87+294C>T
VPS53 ENSG00000141252.21 transcript ENST00000437048.7 protein_coding 1/21 chr17 714329

  • 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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