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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

  Error connecting to IGV?   ASAH1_chr8_18050992_18089107  ASAH1_chr8_18050992_18089107 (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 427
ensemblid ENSG00000104763.20
hgncid 735
symbol ASAH1
name N-acylsphingosine amidohydrolase 1
refseq_nuc NM_177924.5
refseq_prot NP_808592.2
ensembl_nuc ENST00000637790.2
ensembl_prot ENSP00000490272.1
mane_status MANE Select
chr chr8
start 18055992
end 18084107
strand -
ver v1.2
region chr8:18055992-18084107
region5000 chr8:18050992-18089107
regionname0 ASAH1_chr8_18055992_18084107
regionname5000 ASAH1_chr8_18050992_18089107

ahapid grch38/
chm13v2 		alen total AFR AMR EAS EUR SAS JPT regionname genename aa chr start end
a0001 0/1 395 173 23 45 76 10 18 60 ASAH1_chr8_18050992_18089107 ASAH1 copy fasta chr8 18050992 18089107
a0002 0/0 395 163 32 25 81 8 17 67 ASAH1_chr8_18050992_18089107 ASAH1 copy fasta chr8 18050992 18089107
a0003 1/0 395 67 39 3 20 0 4 13 ASAH1_chr8_18050992_18089107 ASAH1 copy fasta chr8 18050992 18089107
a0004 0/0 395 7 0 0 7 0 0 7 ASAH1_chr8_18050992_18089107 ASAH1 copy fasta chr8 18050992 18089107
a0005 0/0 395 5 0 0 0 0 5 0 ASAH1_chr8_18050992_18089107 ASAH1 copy fasta chr8 18050992 18089107
a0006 0/0 395 5 0 1 4 0 0 1 ASAH1_chr8_18050992_18089107 ASAH1 copy fasta chr8 18050992 18089107

chapid grch38/
chm13v2 		alen clen total AFR AMR EAS EUR SAS regionname genename cseq chr start end
c0001 0/1 1188 170 22 45 75 10 17 ASAH1_chr8_18050992_18089107 ASAH1 copy fasta chr8 18050992 18089107
c0002 0/0 1188 163 32 25 81 8 17 ASAH1_chr8_18050992_18089107 ASAH1 copy fasta chr8 18050992 18089107
c0003 1/0 1188 67 39 3 20 0 4 ASAH1_chr8_18050992_18089107 ASAH1 copy fasta chr8 18050992 18089107
c0004 0/0 1188 7 0 0 7 0 0 ASAH1_chr8_18050992_18089107 ASAH1 copy fasta chr8 18050992 18089107
c0005 0/0 1188 5 0 0 0 0 5 ASAH1_chr8_18050992_18089107 ASAH1 copy fasta chr8 18050992 18089107
c0006 0/0 1188 5 0 1 4 0 0 ASAH1_chr8_18050992_18089107 ASAH1 copy fasta chr8 18050992 18089107
c0007 0/0 1188 1 1 0 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 copy fasta chr8 18050992 18089107
c0008 0/0 1188 1 0 0 0 0 1 ASAH1_chr8_18050992_18089107 ASAH1 copy fasta chr8 18050992 18089107
c0009 0/0 1188 1 0 0 1 0 0 ASAH1_chr8_18050992_18089107 ASAH1 copy fasta chr8 18050992 18089107

thapid grch38
chm13v2 		tlen total AFR AMR EAS EUR SAS regionname genename tseq chr start end
t0001 1/1 1592 130 5 29 71 7 16 ASAH1_chr8_18050992_18089107 ASAH1 copy fasta chr8 18050992 18089107
t0002 0/0 1592 93 21 28 29 9 6 ASAH1_chr8_18050992_18089107 ASAH1 copy fasta chr8 18050992 18089107
t0003 0/0 1588 79 11 5 51 1 11 ASAH1_chr8_18050992_18089107 ASAH1 copy fasta chr8 18050992 18089107
t0004 0/0 1586 25 5 7 13 0 0 ASAH1_chr8_18050992_18089107 ASAH1 copy fasta chr8 18050992 18089107
t0005 0/0 1592 16 16 0 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 copy fasta chr8 18050992 18089107
t0006 0/0 1592 12 0 0 9 0 3 ASAH1_chr8_18050992_18089107 ASAH1 copy fasta chr8 18050992 18089107
t0007 0/0 1586 10 4 3 1 1 1 ASAH1_chr8_18050992_18089107 ASAH1 copy fasta chr8 18050992 18089107
t0008 0/0 1586 9 8 1 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 copy fasta chr8 18050992 18089107
t0009 0/0 1588 8 8 0 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 copy fasta chr8 18050992 18089107
t0010 0/0 1592 4 4 0 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 copy fasta chr8 18050992 18089107
t0011 0/0 1592 4 0 0 0 0 4 ASAH1_chr8_18050992_18089107 ASAH1 copy fasta chr8 18050992 18089107
t0012 0/0 1592 3 0 0 3 0 0 ASAH1_chr8_18050992_18089107 ASAH1 copy fasta chr8 18050992 18089107
t0013 0/0 1592 2 2 0 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 copy fasta chr8 18050992 18089107
t0014 0/0 1592 2 2 0 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 copy fasta chr8 18050992 18089107
t0015 0/0 1592 2 0 0 2 0 0 ASAH1_chr8_18050992_18089107 ASAH1 copy fasta chr8 18050992 18089107
t0016 0/0 1592 2 0 0 2 0 0 ASAH1_chr8_18050992_18089107 ASAH1 copy fasta chr8 18050992 18089107
t0017 0/0 1592 1 0 0 0 0 1 ASAH1_chr8_18050992_18089107 ASAH1 copy fasta chr8 18050992 18089107
t0018 0/0 1592 1 1 0 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 copy fasta chr8 18050992 18089107
t0019 0/0 1588 1 0 0 1 0 0 ASAH1_chr8_18050992_18089107 ASAH1 copy fasta chr8 18050992 18089107
t0020 0/0 1586 1 0 0 0 0 1 ASAH1_chr8_18050992_18089107 ASAH1 copy fasta chr8 18050992 18089107
t0021 0/0 1586 1 0 1 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 copy fasta chr8 18050992 18089107
t0022 0/0 1586 1 1 0 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 copy fasta chr8 18050992 18089107
t0023 0/0 1592 1 1 0 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 copy fasta chr8 18050992 18089107
t0024 0/0 1592 1 1 0 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 copy fasta chr8 18050992 18089107
t0025 0/0 1592 1 1 0 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 copy fasta chr8 18050992 18089107
t0026 0/0 1592 1 1 0 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 copy fasta chr8 18050992 18089107
t0027 0/0 1588 1 0 0 0 0 1 ASAH1_chr8_18050992_18089107 ASAH1 copy fasta chr8 18050992 18089107
t0028 0/0 1588 1 0 0 1 0 0 ASAH1_chr8_18050992_18089107 ASAH1 copy fasta chr8 18050992 18089107
t0029 0/0 1588 1 0 0 1 0 0 ASAH1_chr8_18050992_18089107 ASAH1 copy fasta chr8 18050992 18089107
t0030 0/0 1592 1 1 0 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 copy fasta chr8 18050992 18089107
t0031 0/0 1592 1 0 0 1 0 0 ASAH1_chr8_18050992_18089107 ASAH1 copy fasta chr8 18050992 18089107
t0032 0/0 1592 1 0 0 1 0 0 ASAH1_chr8_18050992_18089107 ASAH1 copy fasta chr8 18050992 18089107
t0033 0/0 1588 1 1 0 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 copy fasta chr8 18050992 18089107
t0034 0/0 1592 1 0 0 1 0 0 ASAH1_chr8_18050992_18089107 ASAH1 copy fasta chr8 18050992 18089107
t0035 0/0 1592 1 0 0 1 0 0 ASAH1_chr8_18050992_18089107 ASAH1 copy fasta chr8 18050992 18089107

ghapid grch38/
chm13v2 		total AFR AMR EAS EUR SAS regionname genename chr start end
g0001 0/0 16 2 4 7 0 3 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0002 0/1 13 0 4 2 0 6 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0003 0/0 9 0 0 9 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0004 0/0 8 0 0 7 0 1 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0005 0/0 7 0 0 7 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0006 0/0 6 0 0 6 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0007 0/0 6 0 0 6 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0008 0/0 6 0 3 0 3 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0009 0/0 5 0 1 4 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0010 0/0 4 1 3 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0011 0/0 4 0 1 3 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0012 0/0 4 0 0 4 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0013 0/0 4 0 0 4 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0014 0/0 4 4 0 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0015 0/0 4 0 0 3 0 1 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0016 0/0 4 0 1 0 3 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0017 0/0 3 0 2 1 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0018 0/0 3 0 0 3 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0019 0/0 3 0 0 3 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0020 0/0 3 0 3 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0021 0/0 3 2 1 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0022 0/0 3 2 1 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0023 0/0 3 0 1 2 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0024 0/0 3 3 0 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0025 0/0 3 3 0 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0026 0/0 3 3 0 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0027 0/0 2 2 0 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0028 0/0 2 2 0 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0029 0/0 2 2 0 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0030 0/0 2 2 0 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0031 0/0 2 0 1 1 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0032 0/0 2 0 0 2 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0033 0/0 2 0 1 1 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0034 0/0 2 0 0 2 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0035 0/0 2 0 2 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0036 0/0 2 1 1 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0037 0/0 2 0 0 2 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0038 0/0 2 0 1 0 1 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0039 0/0 2 0 1 0 0 1 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0040 0/0 2 0 0 2 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0041 0/0 2 0 0 0 2 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0042 0/0 2 1 1 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0043 0/0 2 0 0 2 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0044 0/0 2 0 2 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0045 0/0 2 0 2 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0046 0/0 2 0 0 0 0 2 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0047 0/0 2 0 0 2 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0048 0/0 2 0 0 2 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0049 0/0 2 0 0 2 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0050 0/0 2 0 0 2 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0051 0/0 2 0 0 0 0 2 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0052 0/0 2 2 0 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0053 0/0 1 1 0 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0054 0/0 1 1 0 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0055 0/0 1 1 0 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0056 0/0 1 1 0 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0057 0/0 1 0 1 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0058 0/0 1 0 0 0 0 1 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0059 0/0 1 1 0 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0060 0/0 1 1 0 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0061 0/0 1 1 0 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0062 0/0 1 1 0 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0063 0/0 1 1 0 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0064 0/0 1 0 0 1 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0065 0/0 1 0 0 1 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0066 0/0 1 0 0 1 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0067 0/0 1 0 0 1 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0068 0/0 1 0 0 1 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0069 0/0 1 0 1 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0070 0/0 1 0 0 1 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0071 0/0 1 0 0 1 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0072 0/0 1 0 1 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0073 0/0 1 0 0 0 1 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0074 0/0 1 0 1 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0075 0/0 1 0 1 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0076 0/0 1 0 0 0 0 1 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0077 0/0 1 0 1 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0078 0/0 1 1 0 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0079 0/0 1 1 0 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0080 0/0 1 0 0 1 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0081 0/0 1 1 0 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0082 0/0 1 1 0 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0083 0/0 1 0 1 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0084 0/0 1 0 0 1 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0085 0/0 1 1 0 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0086 0/0 1 1 0 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0087 0/0 1 1 0 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0088 0/0 1 1 0 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0089 0/0 1 0 1 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0090 0/0 1 0 0 1 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0091 0/0 1 0 1 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0092 0/0 1 0 0 1 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0093 0/0 1 0 1 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0094 0/0 1 0 0 1 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0095 0/0 1 0 0 1 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0096 0/0 1 0 1 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0097 0/0 1 0 0 1 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0098 0/0 1 0 0 1 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0099 0/0 1 0 0 1 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0100 0/0 1 0 0 1 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0101 0/0 1 0 0 1 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0102 0/0 1 0 1 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0103 0/0 1 0 0 1 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0104 0/0 1 0 1 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0105 0/0 1 0 0 1 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0106 0/0 1 0 0 0 1 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0107 0/0 1 0 0 1 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0108 0/0 1 0 0 1 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0109 0/0 1 0 0 1 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0110 0/0 1 0 0 1 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0111 0/0 1 0 0 1 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0112 0/0 1 0 0 1 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0113 0/0 1 0 0 1 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0114 0/0 1 0 0 1 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0115 0/0 1 0 0 1 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0116 0/0 1 0 0 1 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0117 0/0 1 0 0 1 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0118 0/0 1 0 0 0 0 1 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0119 0/0 1 0 0 1 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0120 0/0 1 0 1 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0121 0/0 1 0 0 1 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0122 0/0 1 0 1 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0123 0/0 1 0 0 1 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0124 0/0 1 0 0 1 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0125 0/0 1 0 0 1 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0126 0/0 1 0 0 1 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0127 0/0 1 0 0 1 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0128 1/0 1 0 0 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0129 0/0 1 0 0 1 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0130 0/0 1 0 0 1 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0131 0/0 1 0 0 1 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0132 0/0 1 0 0 1 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0133 0/0 1 0 0 1 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0134 0/0 1 0 0 1 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0135 0/0 1 0 1 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0136 0/0 1 0 0 1 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0137 0/0 1 1 0 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0138 0/0 1 1 0 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0139 0/0 1 0 0 0 1 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0140 0/0 1 1 0 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0141 0/0 1 0 0 1 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0142 0/0 1 1 0 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0143 0/0 1 0 0 0 1 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0144 0/0 1 1 0 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0145 0/0 1 1 0 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0146 0/0 1 0 0 0 1 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0147 0/0 1 0 0 1 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0148 0/0 1 0 0 1 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0149 0/0 1 0 0 1 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0150 0/0 1 0 0 1 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0151 0/0 1 0 0 1 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0152 0/0 1 0 1 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0153 0/0 1 0 0 1 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0154 0/0 1 0 0 1 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0155 0/0 1 0 0 0 0 1 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0156 0/0 1 0 1 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0157 0/0 1 0 1 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0158 0/0 1 0 1 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0159 0/0 1 0 0 0 0 1 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0160 0/0 1 0 0 0 0 1 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0161 0/0 1 0 1 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0162 0/0 1 0 0 1 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0163 0/0 1 0 0 1 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0164 0/0 1 1 0 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0165 0/0 1 0 1 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0166 0/0 1 0 1 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0167 0/0 1 1 0 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0168 0/0 1 1 0 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0169 0/0 1 0 1 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0170 0/0 1 1 0 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0171 0/0 1 0 1 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0172 0/0 1 0 0 0 0 1 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0173 0/0 1 0 1 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0174 0/0 1 1 0 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0175 0/0 1 0 0 0 0 1 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0176 0/0 1 0 0 1 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0177 0/0 1 0 1 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0178 0/0 1 0 0 0 1 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0179 0/0 1 1 0 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0180 0/0 1 0 1 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0181 0/0 1 0 0 1 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0182 0/0 1 0 0 0 0 1 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0183 0/0 1 0 0 1 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0184 0/0 1 0 0 1 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0185 0/0 1 0 0 1 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0186 0/0 1 0 0 1 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0187 0/0 1 1 0 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0188 0/0 1 0 0 0 1 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0189 0/0 1 0 1 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0190 0/0 1 0 0 1 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0191 0/0 1 0 1 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0192 0/0 1 0 0 1 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0193 0/0 1 0 1 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0194 0/0 1 0 0 1 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0195 0/0 1 0 0 0 1 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0196 0/0 1 0 0 0 0 1 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0197 0/0 1 0 0 1 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0198 0/0 1 1 0 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0199 0/0 1 1 0 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0200 0/0 1 0 0 1 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0201 0/0 1 0 1 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0202 0/0 1 0 1 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0203 0/0 1 0 0 1 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0204 0/0 1 0 1 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0205 0/0 1 0 1 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0206 0/0 1 1 0 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0207 0/0 1 0 1 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0208 0/0 1 0 0 0 1 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0209 0/0 1 1 0 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0210 0/0 1 0 0 0 0 1 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0211 0/0 1 0 0 0 0 1 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0212 0/0 1 0 0 0 0 1 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0213 0/0 1 0 0 0 0 1 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0214 0/0 1 0 0 1 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0215 0/0 1 0 0 1 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0216 0/0 1 1 0 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0217 0/0 1 0 0 0 0 1 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0218 0/0 1 0 0 0 0 1 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0219 0/0 1 1 0 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0220 0/0 1 1 0 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0221 0/0 1 0 0 1 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0222 0/0 1 0 0 0 0 1 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0223 0/0 1 1 0 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0224 0/0 1 0 0 1 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0225 0/0 1 0 0 1 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0226 0/0 1 0 0 1 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0227 0/0 1 0 0 1 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0228 0/0 1 1 0 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0229 0/0 1 1 0 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0230 0/0 1 0 0 1 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0231 0/0 1 0 0 1 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0232 0/0 1 0 0 0 0 1 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0233 0/0 1 0 0 1 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0234 0/0 1 0 0 1 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0235 0/0 1 1 0 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0236 0/0 1 0 0 0 0 1 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0237 0/0 1 0 0 0 0 1 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0238 0/0 1 0 0 0 0 1 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0239 0/0 1 0 0 1 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0240 0/0 1 0 0 1 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0241 0/0 1 1 0 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0242 0/0 1 0 0 0 0 1 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0243 0/0 1 0 0 1 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0244 0/0 1 0 1 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0245 0/0 1 0 0 1 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0246 0/0 1 0 0 0 0 1 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0247 0/0 1 0 0 1 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0248 0/0 1 0 0 0 0 1 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0249 0/0 1 0 0 1 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0250 0/0 1 0 0 1 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0251 0/0 1 0 0 1 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0252 0/0 1 0 0 1 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0253 0/0 1 0 0 1 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0254 0/0 1 1 0 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0255 0/0 1 0 0 1 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0256 0/0 1 0 0 1 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0257 0/0 1 0 0 0 0 1 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0258 0/0 1 1 0 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0259 0/0 1 0 0 1 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0260 0/0 1 1 0 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0261 0/0 1 0 0 1 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0262 0/0 1 0 0 1 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0263 0/0 1 1 0 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0264 0/0 1 1 0 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0265 0/0 1 1 0 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0266 0/0 1 1 0 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0267 0/0 1 1 0 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0268 0/0 1 1 0 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0269 0/0 1 0 0 0 0 1 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0270 0/0 1 1 0 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0271 0/0 1 1 0 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0272 0/0 1 0 0 0 0 1 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0273 0/0 1 1 0 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0274 0/0 1 1 0 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0275 0/0 1 1 0 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0276 0/0 1 1 0 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0277 0/0 1 1 0 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0278 0/0 1 0 0 0 0 1 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0279 0/0 1 1 0 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0280 0/0 1 0 0 1 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0281 0/0 1 1 0 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0282 0/0 1 1 0 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0283 0/0 1 1 0 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0284 0/0 1 0 0 1 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0285 0/0 1 0 0 1 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
g0286 0/0 1 0 0 1 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107

achapid grch38/
chm13v2 		alen clen total AFR AMR EAS EUR SAS regionname genename cseq chr start end
a0001c0001 0/1 1188 170 22 45 75 10 17 ASAH1_chr8_18050992_18089107 ASAH1 copy fasta chr8 18050992 18089107
a0001c0007 0/0 1188 1 1 0 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 copy fasta chr8 18050992 18089107
a0001c0008 0/0 1188 1 0 0 0 0 1 ASAH1_chr8_18050992_18089107 ASAH1 copy fasta chr8 18050992 18089107
a0001c0009 0/0 1188 1 0 0 1 0 0 ASAH1_chr8_18050992_18089107 ASAH1 copy fasta chr8 18050992 18089107
a0002c0002 0/0 1188 163 32 25 81 8 17 ASAH1_chr8_18050992_18089107 ASAH1 copy fasta chr8 18050992 18089107
a0003c0003 1/0 1188 67 39 3 20 0 4 ASAH1_chr8_18050992_18089107 ASAH1 copy fasta chr8 18050992 18089107
a0004c0004 0/0 1188 7 0 0 7 0 0 ASAH1_chr8_18050992_18089107 ASAH1 copy fasta chr8 18050992 18089107
a0005c0005 0/0 1188 5 0 0 0 0 5 ASAH1_chr8_18050992_18089107 ASAH1 copy fasta chr8 18050992 18089107
a0006c0006 0/0 1188 5 0 1 4 0 0 ASAH1_chr8_18050992_18089107 ASAH1 copy fasta chr8 18050992 18089107

acthapid grch38
chm13v2 		tlen total AFR AMR EAS EUR SAS regionname genename tseq chr start end
a0001c0001t0001 0/1 2779 94 5 27 42 7 12 ASAH1_chr8_18050992_18089107 ASAH1 copy fasta chr8 18050992 18089107
a0001c0001t0002 0/0 2779 15 4 7 2 2 0 ASAH1_chr8_18050992_18089107 ASAH1 copy fasta chr8 18050992 18089107
a0001c0001t0003 0/0 2775 1 0 0 0 0 1 ASAH1_chr8_18050992_18089107 ASAH1 copy fasta chr8 18050992 18089107
a0001c0001t0004 0/0 2773 24 5 7 12 0 0 ASAH1_chr8_18050992_18089107 ASAH1 copy fasta chr8 18050992 18089107
a0001c0001t0006 0/0 2779 10 0 0 8 0 2 ASAH1_chr8_18050992_18089107 ASAH1 copy fasta chr8 18050992 18089107
a0001c0001t0007 0/0 2773 10 4 3 1 1 1 ASAH1_chr8_18050992_18089107 ASAH1 copy fasta chr8 18050992 18089107
a0001c0001t0012 0/0 2779 3 0 0 3 0 0 ASAH1_chr8_18050992_18089107 ASAH1 copy fasta chr8 18050992 18089107
a0001c0001t0013 0/0 2779 1 1 0 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 copy fasta chr8 18050992 18089107
a0001c0001t0014 0/0 2779 2 2 0 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 copy fasta chr8 18050992 18089107
a0001c0001t0015 0/0 2779 2 0 0 2 0 0 ASAH1_chr8_18050992_18089107 ASAH1 copy fasta chr8 18050992 18089107
a0001c0001t0016 0/0 2779 2 0 0 2 0 0 ASAH1_chr8_18050992_18089107 ASAH1 copy fasta chr8 18050992 18089107
a0001c0001t0020 0/0 2773 1 0 0 0 0 1 ASAH1_chr8_18050992_18089107 ASAH1 copy fasta chr8 18050992 18089107
a0001c0001t0021 0/0 2773 1 0 1 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 copy fasta chr8 18050992 18089107
a0001c0001t0022 0/0 2773 1 1 0 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 copy fasta chr8 18050992 18089107
a0001c0001t0031 0/0 2779 1 0 0 1 0 0 ASAH1_chr8_18050992_18089107 ASAH1 copy fasta chr8 18050992 18089107
a0001c0001t0032 0/0 2779 1 0 0 1 0 0 ASAH1_chr8_18050992_18089107 ASAH1 copy fasta chr8 18050992 18089107
a0001c0001t0034 0/0 2779 1 0 0 1 0 0 ASAH1_chr8_18050992_18089107 ASAH1 copy fasta chr8 18050992 18089107
a0001c0007t0023 0/0 2779 1 1 0 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 copy fasta chr8 18050992 18089107
a0001c0008t0006 0/0 2779 1 0 0 0 0 1 ASAH1_chr8_18050992_18089107 ASAH1 copy fasta chr8 18050992 18089107
a0001c0009t0001 0/0 2779 1 0 0 1 0 0 ASAH1_chr8_18050992_18089107 ASAH1 copy fasta chr8 18050992 18089107
a0002c0002t0001 0/0 2779 8 0 0 8 0 0 ASAH1_chr8_18050992_18089107 ASAH1 copy fasta chr8 18050992 18089107
a0002c0002t0002 0/0 2779 77 16 21 27 7 6 ASAH1_chr8_18050992_18089107 ASAH1 copy fasta chr8 18050992 18089107
a0002c0002t0003 0/0 2775 66 11 4 40 1 10 ASAH1_chr8_18050992_18089107 ASAH1 copy fasta chr8 18050992 18089107
a0002c0002t0004 0/0 2773 1 0 0 1 0 0 ASAH1_chr8_18050992_18089107 ASAH1 copy fasta chr8 18050992 18089107
a0002c0002t0005 0/0 2779 1 1 0 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 copy fasta chr8 18050992 18089107
a0002c0002t0006 0/0 2779 1 0 0 1 0 0 ASAH1_chr8_18050992_18089107 ASAH1 copy fasta chr8 18050992 18089107
a0002c0002t0018 0/0 2779 1 1 0 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 copy fasta chr8 18050992 18089107
a0002c0002t0019 0/0 2775 1 0 0 1 0 0 ASAH1_chr8_18050992_18089107 ASAH1 copy fasta chr8 18050992 18089107
a0002c0002t0025 0/0 2779 1 1 0 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 copy fasta chr8 18050992 18089107
a0002c0002t0027 0/0 2775 1 0 0 0 0 1 ASAH1_chr8_18050992_18089107 ASAH1 copy fasta chr8 18050992 18089107
a0002c0002t0028 0/0 2775 1 0 0 1 0 0 ASAH1_chr8_18050992_18089107 ASAH1 copy fasta chr8 18050992 18089107
a0002c0002t0029 0/0 2775 1 0 0 1 0 0 ASAH1_chr8_18050992_18089107 ASAH1 copy fasta chr8 18050992 18089107
a0002c0002t0030 0/0 2779 1 1 0 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 copy fasta chr8 18050992 18089107
a0002c0002t0033 0/0 2775 1 1 0 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 copy fasta chr8 18050992 18089107
a0002c0002t0035 0/0 2779 1 0 0 1 0 0 ASAH1_chr8_18050992_18089107 ASAH1 copy fasta chr8 18050992 18089107
a0003c0003t0001 1/0 2779 26 0 2 20 0 3 ASAH1_chr8_18050992_18089107 ASAH1 copy fasta chr8 18050992 18089107
a0003c0003t0002 0/0 2779 1 1 0 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 copy fasta chr8 18050992 18089107
a0003c0003t0005 0/0 2779 15 15 0 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 copy fasta chr8 18050992 18089107
a0003c0003t0008 0/0 2773 9 8 1 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 copy fasta chr8 18050992 18089107
a0003c0003t0009 0/0 2775 8 8 0 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 copy fasta chr8 18050992 18089107
a0003c0003t0010 0/0 2779 4 4 0 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 copy fasta chr8 18050992 18089107
a0003c0003t0013 0/0 2779 1 1 0 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 copy fasta chr8 18050992 18089107
a0003c0003t0017 0/0 2779 1 0 0 0 0 1 ASAH1_chr8_18050992_18089107 ASAH1 copy fasta chr8 18050992 18089107
a0003c0003t0024 0/0 2779 1 1 0 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 copy fasta chr8 18050992 18089107
a0003c0003t0026 0/0 2779 1 1 0 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 copy fasta chr8 18050992 18089107
a0004c0004t0003 0/0 2775 7 0 0 7 0 0 ASAH1_chr8_18050992_18089107 ASAH1 copy fasta chr8 18050992 18089107
a0005c0005t0001 0/0 2779 1 0 0 0 0 1 ASAH1_chr8_18050992_18089107 ASAH1 copy fasta chr8 18050992 18089107
a0005c0005t0011 0/0 2779 4 0 0 0 0 4 ASAH1_chr8_18050992_18089107 ASAH1 copy fasta chr8 18050992 18089107
a0006c0006t0003 0/0 2775 5 0 1 4 0 0 ASAH1_chr8_18050992_18089107 ASAH1 copy fasta chr8 18050992 18089107

actghapid grch38/
chm13v2 		total AFR AMR EAS EUR SAS regionname genename chr start end
a0001c0001t0001g0002 0/1 13 0 4 2 0 6 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0001c0001t0001g0003 0/0 9 0 0 9 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0001c0001t0001g0009 0/0 5 0 1 4 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0001c0001t0001g0015 0/0 4 0 0 3 0 1 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0001c0001t0001g0016 0/0 4 0 1 0 3 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0001c0001t0001g0019 0/0 3 0 0 3 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0001c0001t0001g0020 0/0 3 0 3 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0001c0001t0001g0040 0/0 2 0 0 2 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0001c0001t0001g0041 0/0 2 0 0 0 2 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0001c0001t0001g0044 0/0 2 0 2 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0001c0001t0001g0045 0/0 2 0 2 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0001c0001t0001g0072 0/0 1 0 1 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0001c0001t0001g0102 0/0 1 0 1 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0001c0001t0001g0104 0/0 1 0 1 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0001c0001t0001g0123 0/0 1 0 0 1 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0001c0001t0001g0124 0/0 1 0 0 1 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0001c0001t0001g0153 0/0 1 0 0 1 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0001c0001t0001g0158 0/0 1 0 1 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0001c0001t0001g0161 0/0 1 0 1 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0001c0001t0001g0167 0/0 1 1 0 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0001c0001t0001g0169 0/0 1 0 1 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0001c0001t0001g0170 0/0 1 1 0 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0001c0001t0001g0171 0/0 1 0 1 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0001c0001t0001g0172 0/0 1 0 0 0 0 1 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0001c0001t0001g0174 0/0 1 1 0 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0001c0001t0001g0175 0/0 1 0 0 0 0 1 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0001c0001t0001g0177 0/0 1 0 1 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0001c0001t0001g0178 0/0 1 0 0 0 1 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0001c0001t0001g0179 0/0 1 1 0 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0001c0001t0001g0180 0/0 1 0 1 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0001c0001t0001g0182 0/0 1 0 0 0 0 1 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0001c0001t0001g0183 0/0 1 0 0 1 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0001c0001t0001g0184 0/0 1 0 0 1 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0001c0001t0001g0185 0/0 1 0 0 1 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0001c0001t0001g0187 0/0 1 1 0 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0001c0001t0001g0190 0/0 1 0 0 1 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0001c0001t0001g0192 0/0 1 0 0 1 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0001c0001t0001g0193 0/0 1 0 1 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0001c0001t0001g0194 0/0 1 0 0 1 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0001c0001t0001g0197 0/0 1 0 0 1 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0001c0001t0001g0202 0/0 1 0 1 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0001c0001t0001g0203 0/0 1 0 0 1 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0001c0001t0001g0204 0/0 1 0 1 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0001c0001t0001g0205 0/0 1 0 1 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0001c0001t0001g0207 0/0 1 0 1 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0001c0001t0001g0208 0/0 1 0 0 0 1 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0001c0001t0001g0214 0/0 1 0 0 1 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0001c0001t0001g0226 0/0 1 0 0 1 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0001c0001t0001g0230 0/0 1 0 0 1 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0001c0001t0001g0231 0/0 1 0 0 1 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0001c0001t0001g0256 0/0 1 0 0 1 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0001c0001t0001g0257 0/0 1 0 0 0 0 1 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0001c0001t0001g0259 0/0 1 0 0 1 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0001c0001t0001g0261 0/0 1 0 0 1 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0001c0001t0001g0278 0/0 1 0 0 0 0 1 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0001c0001t0001g0284 0/0 1 0 0 1 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0001c0001t0002g0042 0/0 2 1 1 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0001c0001t0002g0165 0/0 1 0 1 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0001c0001t0002g0166 0/0 1 0 1 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0001c0001t0002g0173 0/0 1 0 1 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0001c0001t0002g0188 0/0 1 0 0 0 1 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0001c0001t0002g0189 0/0 1 0 1 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0001c0001t0002g0191 0/0 1 0 1 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0001c0001t0002g0195 0/0 1 0 0 0 1 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0001c0001t0002g0200 0/0 1 0 0 1 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0001c0001t0002g0201 0/0 1 0 1 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0001c0001t0002g0216 0/0 1 1 0 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0001c0001t0002g0220 0/0 1 1 0 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0001c0001t0002g0235 0/0 1 1 0 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0001c0001t0002g0251 0/0 1 0 0 1 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0001c0001t0003g0159 0/0 1 0 0 0 0 1 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0001c0001t0004g0010 0/0 4 1 3 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0001c0001t0004g0011 0/0 4 0 1 3 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0001c0001t0004g0029 0/0 2 2 0 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0001c0001t0004g0065 0/0 1 0 0 1 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0001c0001t0004g0066 0/0 1 0 0 1 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0001c0001t0004g0067 0/0 1 0 0 1 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0001c0001t0004g0068 0/0 1 0 0 1 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0001c0001t0004g0069 0/0 1 0 1 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0001c0001t0004g0070 0/0 1 0 0 1 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0001c0001t0004g0071 0/0 1 0 0 1 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0001c0001t0004g0079 0/0 1 1 0 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0001c0001t0004g0080 0/0 1 0 0 1 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0001c0001t0004g0081 0/0 1 1 0 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0001c0001t0004g0083 0/0 1 0 1 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0001c0001t0004g0084 0/0 1 0 0 1 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0001c0001t0004g0089 0/0 1 0 1 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0001c0001t0004g0090 0/0 1 0 0 1 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0001c0001t0006g0047 0/0 2 0 0 2 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0001c0001t0006g0154 0/0 1 0 0 1 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0001c0001t0006g0215 0/0 1 0 0 1 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0001c0001t0006g0217 0/0 1 0 0 0 0 1 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0001c0001t0006g0221 0/0 1 0 0 1 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0001c0001t0006g0222 0/0 1 0 0 0 0 1 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0001c0001t0006g0224 0/0 1 0 0 1 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0001c0001t0006g0225 0/0 1 0 0 1 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0001c0001t0006g0227 0/0 1 0 0 1 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0001c0001t0007g0058 0/0 1 0 0 0 0 1 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0001c0001t0007g0064 0/0 1 0 0 1 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0001c0001t0007g0073 0/0 1 0 0 0 1 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0001c0001t0007g0074 0/0 1 0 1 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0001c0001t0007g0075 0/0 1 0 1 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0001c0001t0007g0077 0/0 1 0 1 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0001c0001t0007g0078 0/0 1 1 0 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0001c0001t0007g0228 0/0 1 1 0 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0001c0001t0007g0229 0/0 1 1 0 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0001c0001t0007g0260 0/0 1 1 0 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0001c0001t0012g0050 0/0 2 0 0 2 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0001c0001t0012g0262 0/0 1 0 0 1 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0001c0001t0013g0281 0/0 1 1 0 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0001c0001t0014g0027 0/0 2 2 0 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0001c0001t0015g0162 0/0 1 0 0 1 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0001c0001t0015g0181 0/0 1 0 0 1 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0001c0001t0016g0043 0/0 2 0 0 2 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0001c0001t0020g0076 0/0 1 0 0 0 0 1 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0001c0001t0021g0057 0/0 1 0 1 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0001c0001t0022g0082 0/0 1 1 0 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0001c0001t0031g0117 0/0 1 0 0 1 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0001c0001t0032g0176 0/0 1 0 0 1 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0001c0001t0034g0186 0/0 1 0 0 1 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0001c0007t0023g0279 0/0 1 1 0 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0001c0008t0006g0218 0/0 1 0 0 0 0 1 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0001c0009t0001g0094 0/0 1 0 0 1 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0002c0002t0001g0013 0/0 4 0 0 4 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0002c0002t0001g0032 0/0 2 0 0 2 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0002c0002t0001g0136 0/0 1 0 0 1 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0002c0002t0001g0150 0/0 1 0 0 1 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0002c0002t0002g0001 0/0 16 2 4 7 0 3 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0002c0002t0002g0008 0/0 6 0 3 0 3 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0002c0002t0002g0017 0/0 3 0 2 1 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0002c0002t0002g0018 0/0 3 0 0 3 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0002c0002t0002g0021 0/0 3 2 1 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0002c0002t0002g0028 0/0 2 2 0 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0002c0002t0002g0034 0/0 2 0 0 2 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0002c0002t0002g0035 0/0 2 0 2 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0002c0002t0002g0036 0/0 2 1 1 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0002c0002t0002g0037 0/0 2 0 0 2 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0002c0002t0002g0038 0/0 2 0 1 0 1 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0002c0002t0002g0039 0/0 2 0 1 0 0 1 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0002c0002t0002g0055 0/0 1 1 0 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0002c0002t0002g0092 0/0 1 0 0 1 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0002c0002t0002g0093 0/0 1 0 1 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0002c0002t0002g0099 0/0 1 0 0 1 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0002c0002t0002g0100 0/0 1 0 0 1 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0002c0002t0002g0120 0/0 1 0 1 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0002c0002t0002g0131 0/0 1 0 0 1 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0002c0002t0002g0132 0/0 1 0 0 1 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0002c0002t0002g0133 0/0 1 0 0 1 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0002c0002t0002g0135 0/0 1 0 1 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0002c0002t0002g0137 0/0 1 1 0 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0002c0002t0002g0138 0/0 1 1 0 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0002c0002t0002g0139 0/0 1 0 0 0 1 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0002c0002t0002g0140 0/0 1 1 0 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0002c0002t0002g0141 0/0 1 0 0 1 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0002c0002t0002g0142 0/0 1 1 0 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0002c0002t0002g0143 0/0 1 0 0 0 1 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0002c0002t0002g0144 0/0 1 1 0 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0002c0002t0002g0145 0/0 1 1 0 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0002c0002t0002g0146 0/0 1 0 0 0 1 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0002c0002t0002g0148 0/0 1 0 0 1 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0002c0002t0002g0149 0/0 1 0 0 1 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0002c0002t0002g0151 0/0 1 0 0 1 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0002c0002t0002g0152 0/0 1 0 1 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0002c0002t0002g0155 0/0 1 0 0 0 0 1 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0002c0002t0002g0156 0/0 1 0 1 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0002c0002t0002g0157 0/0 1 0 1 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0002c0002t0002g0196 0/0 1 0 0 0 0 1 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0002c0002t0002g0209 0/0 1 1 0 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0002c0002t0002g0240 0/0 1 0 0 1 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0002c0002t0002g0258 0/0 1 1 0 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0002c0002t0002g0285 0/0 1 0 0 1 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0002c0002t0003g0004 0/0 8 0 0 7 0 1 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0002c0002t0003g0006 0/0 6 0 0 6 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0002c0002t0003g0025 0/0 3 3 0 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0002c0002t0003g0031 0/0 2 0 1 1 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0002c0002t0003g0048 0/0 2 0 0 2 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0002c0002t0003g0049 0/0 2 0 0 2 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0002c0002t0003g0059 0/0 1 1 0 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0002c0002t0003g0060 0/0 1 1 0 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0002c0002t0003g0061 0/0 1 1 0 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0002c0002t0003g0091 0/0 1 0 1 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0002c0002t0003g0095 0/0 1 0 0 1 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0002c0002t0003g0096 0/0 1 0 1 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0002c0002t0003g0097 0/0 1 0 0 1 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0002c0002t0003g0098 0/0 1 0 0 1 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0002c0002t0003g0101 0/0 1 0 0 1 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0002c0002t0003g0103 0/0 1 0 0 1 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0002c0002t0003g0105 0/0 1 0 0 1 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0002c0002t0003g0106 0/0 1 0 0 0 1 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0002c0002t0003g0108 0/0 1 0 0 1 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0002c0002t0003g0109 0/0 1 0 0 1 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0002c0002t0003g0110 0/0 1 0 0 1 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0002c0002t0003g0111 0/0 1 0 0 1 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0002c0002t0003g0113 0/0 1 0 0 1 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0002c0002t0003g0115 0/0 1 0 0 1 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0002c0002t0003g0116 0/0 1 0 0 1 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0002c0002t0003g0118 0/0 1 0 0 0 0 1 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0002c0002t0003g0134 0/0 1 0 0 1 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0002c0002t0003g0160 0/0 1 0 0 0 0 1 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0002c0002t0003g0210 0/0 1 0 0 0 0 1 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0002c0002t0003g0232 0/0 1 0 0 0 0 1 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0002c0002t0003g0233 0/0 1 0 0 1 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0002c0002t0003g0236 0/0 1 0 0 0 0 1 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0002c0002t0003g0237 0/0 1 0 0 0 0 1 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0002c0002t0003g0238 0/0 1 0 0 0 0 1 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0002c0002t0003g0239 0/0 1 0 0 1 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0002c0002t0003g0244 0/0 1 0 1 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0002c0002t0003g0245 0/0 1 0 0 1 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0002c0002t0003g0246 0/0 1 0 0 0 0 1 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0002c0002t0003g0247 0/0 1 0 0 1 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0002c0002t0003g0248 0/0 1 0 0 0 0 1 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0002c0002t0003g0250 0/0 1 0 0 1 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0002c0002t0003g0252 0/0 1 0 0 1 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0002c0002t0003g0253 0/0 1 0 0 1 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0002c0002t0003g0255 0/0 1 0 0 1 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0002c0002t0003g0266 0/0 1 1 0 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0002c0002t0003g0267 0/0 1 1 0 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0002c0002t0003g0273 0/0 1 1 0 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0002c0002t0003g0274 0/0 1 1 0 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0002c0002t0003g0275 0/0 1 1 0 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0002c0002t0004g0112 0/0 1 0 0 1 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0002c0002t0005g0241 0/0 1 1 0 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0002c0002t0006g0147 0/0 1 0 0 1 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0002c0002t0018g0270 0/0 1 1 0 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0002c0002t0019g0243 0/0 1 0 0 1 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0002c0002t0025g0054 0/0 1 1 0 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0002c0002t0027g0242 0/0 1 0 0 0 0 1 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0002c0002t0028g0249 0/0 1 0 0 1 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0002c0002t0029g0107 0/0 1 0 0 1 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0002c0002t0030g0254 0/0 1 1 0 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0002c0002t0033g0053 0/0 1 1 0 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0002c0002t0035g0286 0/0 1 0 0 1 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0003c0003t0001g0005 0/0 7 0 0 7 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0003c0003t0001g0012 0/0 4 0 0 4 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0003c0003t0001g0033 0/0 2 0 1 1 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0003c0003t0001g0051 0/0 2 0 0 0 0 2 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0003c0003t0001g0119 0/0 1 0 0 1 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0003c0003t0001g0121 0/0 1 0 0 1 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0003c0003t0001g0122 0/0 1 0 1 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0003c0003t0001g0125 0/0 1 0 0 1 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0003c0003t0001g0126 0/0 1 0 0 1 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0003c0003t0001g0127 0/0 1 0 0 1 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0003c0003t0001g0128 1/0 1 0 0 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0003c0003t0001g0129 0/0 1 0 0 1 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0003c0003t0001g0163 0/0 1 0 0 1 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0003c0003t0001g0269 0/0 1 0 0 0 0 1 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0003c0003t0001g0280 0/0 1 0 0 1 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0003c0003t0002g0223 0/0 1 1 0 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0003c0003t0005g0024 0/0 3 3 0 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0003c0003t0005g0026 0/0 3 3 0 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0003c0003t0005g0056 0/0 1 1 0 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0003c0003t0005g0063 0/0 1 1 0 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0003c0003t0005g0168 0/0 1 1 0 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0003c0003t0005g0206 0/0 1 1 0 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0003c0003t0005g0263 0/0 1 1 0 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0003c0003t0005g0264 0/0 1 1 0 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0003c0003t0005g0265 0/0 1 1 0 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0003c0003t0005g0276 0/0 1 1 0 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0003c0003t0005g0277 0/0 1 1 0 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0003c0003t0008g0022 0/0 3 2 1 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0003c0003t0008g0030 0/0 2 2 0 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0003c0003t0008g0085 0/0 1 1 0 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0003c0003t0008g0086 0/0 1 1 0 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0003c0003t0008g0087 0/0 1 1 0 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0003c0003t0008g0088 0/0 1 1 0 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0003c0003t0009g0014 0/0 4 4 0 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0003c0003t0009g0062 0/0 1 1 0 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0003c0003t0009g0198 0/0 1 1 0 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0003c0003t0009g0199 0/0 1 1 0 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0003c0003t0009g0219 0/0 1 1 0 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0003c0003t0010g0052 0/0 2 2 0 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0003c0003t0010g0164 0/0 1 1 0 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0003c0003t0010g0283 0/0 1 1 0 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0003c0003t0013g0271 0/0 1 1 0 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0003c0003t0017g0272 0/0 1 0 0 0 0 1 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0003c0003t0024g0282 0/0 1 1 0 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0003c0003t0026g0268 0/0 1 1 0 0 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0004c0004t0003g0007 0/0 6 0 0 6 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0004c0004t0003g0114 0/0 1 0 0 1 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0005c0005t0001g0213 0/0 1 0 0 0 0 1 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0005c0005t0011g0046 0/0 2 0 0 0 0 2 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0005c0005t0011g0211 0/0 1 0 0 0 0 1 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0005c0005t0011g0212 0/0 1 0 0 0 0 1 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0006c0006t0003g0023 0/0 3 0 1 2 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0006c0006t0003g0130 0/0 1 0 0 1 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
a0006c0006t0003g0234 0/0 1 0 0 1 0 0 ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107

sampleid ID
haplotypeid
 ahapid chapid thapid ghapid gpopname popname regionname genename chr start end
HG00099 hp1 a0001 c0001 t0002 g0195 EUR GBR ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG00099 hp2 a0001 c0001 t0001 g0041 EUR GBR ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG00140 hp1 a0001 c0001 t0002 g0188 EUR GBR ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG00140 hp2 a0002 c0002 t0002 g0143 EUR GBR ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG00280 hp1 a0002 c0002 t0002 g0146 EUR FIN ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG00280 hp2 a0001 c0001 t0001 g0016 EUR FIN ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG00323 hp1 a0002 c0002 t0002 g0038 EUR FIN ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG00323 hp2 a0001 c0001 t0007 g0073 EUR FIN ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG00423 hp1 a0001 c0001 t0012 g0050 EAS CHS ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG00423 hp2 a0002 c0002 t0003 g0253 EAS CHS ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG00438 hp1 a0006 c0006 t0003 g0130 EAS CHS ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG00438 hp2 a0001 c0001 t0004 g0065 EAS CHS ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG00558 hp1 a0006 c0006 t0003 g0023 EAS CHS ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG00558 hp2 a0003 c0003 t0001 g0163 EAS CHS ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG00597 hp1 a0002 c0002 t0003 g0006 EAS CHS ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG00597 hp2 a0001 c0001 t0006 g0227 EAS CHS ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG00609 hp1 a0003 c0003 t0001 g0005 EAS CHS ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG00609 hp2 a0001 c0001 t0001 g0003 EAS CHS ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG00621 hp1 a0006 c0006 t0003 g0023 EAS CHS ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG00621 hp2 a0002 c0002 t0002 g0240 EAS CHS ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG00639 hp1 a0001 c0001 t0002 g0201 AMR PUR ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG00639 hp2 a0001 c0001 t0001 g0044 AMR PUR ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG00642 hp1 a0002 c0002 t0002 g0001 AMR PUR ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG00642 hp2 a0001 c0001 t0001 g0016 AMR PUR ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG00738 hp1 a0002 c0002 t0002 g0001 AMR PUR ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG00738 hp2 a0001 c0001 t0002 g0191 AMR PUR ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG00741 hp1 a0001 c0001 t0001 g0020 AMR PUR ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG00741 hp2 a0002 c0002 t0002 g0008 AMR PUR ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG01070 hp1 a0001 c0001 t0001 g0044 AMR PUR ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG01070 hp2 a0002 c0002 t0002 g0001 AMR PUR ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG01081 hp1 a0001 c0001 t0001 g0002 AMR PUR ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG01081 hp2 a0001 c0001 t0002 g0165 AMR PUR ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG01099 hp1 a0003 c0003 t0008 g0022 AMR PUR ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG01099 hp2 a0003 c0003 t0001 g0122 AMR PUR ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG01106 hp1 a0002 c0002 t0002 g0008 AMR PUR ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG01106 hp2 a0002 c0002 t0003 g0091 AMR PUR ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG01109 hp1 a0001 c0001 t0002 g0166 AMR PUR ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG01109 hp2 a0002 c0002 t0002 g0021 AMR PUR ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG01167 hp1 a0001 c0001 t0007 g0075 AMR PUR ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG01167 hp2 a0002 c0002 t0002 g0035 AMR PUR ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG01168 hp1 a0002 c0002 t0002 g0135 AMR PUR ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG01168 hp2 a0001 c0001 t0001 g0180 AMR PUR ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG01169 hp1 a0001 c0001 t0007 g0074 AMR PUR ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG01169 hp2 a0001 c0001 t0001 g0202 AMR PUR ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG01175 hp1 a0002 c0002 t0002 g0120 AMR PUR ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG01175 hp2 a0002 c0002 t0002 g0152 AMR PUR ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG01192 hp1 a0003 c0003 t0001 g0033 AMR PUR ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG01192 hp2 a0002 c0002 t0002 g0038 AMR PUR ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG01243 hp1 a0001 c0001 t0001 g0204 AMR PUR ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG01243 hp2 a0002 c0002 t0002 g0036 AMR PUR ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG01255 hp1 a0001 c0001 t0001 g0045 AMR CLM ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG01255 hp2 a0002 c0002 t0002 g0093 AMR CLM ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG01256 hp1 a0002 c0002 t0002 g0156 AMR CLM ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG01256 hp2 a0001 c0001 t0001 g0177 AMR CLM ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG01257 hp1 a0002 c0002 t0002 g0017 AMR CLM ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG01257 hp2 a0001 c0001 t0004 g0011 AMR CLM ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG01258 hp1 a0002 c0002 t0002 g0017 AMR CLM ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG01258 hp2 a0002 c0002 t0002 g0157 AMR CLM ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG01261 hp1 a0001 c0001 t0007 g0077 AMR CLM ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG01261 hp2 a0001 c0001 t0002 g0189 AMR CLM ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG01358 hp1 a0002 c0002 t0003 g0031 AMR CLM ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG01358 hp2 a0001 c0001 t0001 g0045 AMR CLM ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG01361 hp1 a0001 c0001 t0004 g0010 AMR CLM ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG01361 hp2 a0002 c0002 t0002 g0039 AMR CLM ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG01433 hp1 a0001 c0001 t0004 g0010 AMR CLM ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG01433 hp2 a0001 c0001 t0001 g0158 AMR CLM ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG01496 hp1 a0001 c0001 t0004 g0010 AMR CLM ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG01496 hp2 a0001 c0001 t0001 g0207 AMR CLM ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG01515 hp1 a0001 c0001 t0001 g0016 EUR IBS ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG01515 hp2 a0001 c0001 t0001 g0178 EUR IBS ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG01516 hp1 a0001 c0001 t0001 g0208 EUR IBS ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG01516 hp2 a0002 c0002 t0002 g0008 EUR IBS ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG01517 hp1 a0002 c0002 t0002 g0008 EUR IBS ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG01517 hp2 a0001 c0001 t0001 g0016 EUR IBS ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG01884 hp1 a0003 c0003 t0008 g0030 AFR ACB ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG01884 hp2 a0001 c0001 t0007 g0078 AFR ACB ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG01891 hp1 a0003 c0003 t0010 g0283 AFR ACB ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG01891 hp2 a0003 c0003 t0005 g0026 AFR ACB ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG01928 hp1 a0001 c0001 t0001 g0169 AMR PEL ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG01928 hp2 a0001 c0001 t0001 g0002 AMR PEL ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG01934 hp1 a0001 c0001 t0001 g0002 AMR PEL ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG01934 hp2 a0001 c0001 t0002 g0042 AMR PEL ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG01943 hp1 a0001 c0001 t0001 g0193 AMR PEL ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG01943 hp2 a0002 c0002 t0003 g0096 AMR PEL ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG01952 hp1 a0001 c0001 t0021 g0057 AMR PEL ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG01952 hp2 a0001 c0001 t0001 g0104 AMR PEL ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG01975 hp1 a0001 c0001 t0001 g0002 AMR PEL ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG01975 hp2 a0002 c0002 t0003 g0244 AMR PEL ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG01978 hp1 a0002 c0002 t0002 g0035 AMR PEL ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG01978 hp2 a0001 c0001 t0001 g0020 AMR PEL ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG01981 hp1 a0001 c0001 t0001 g0009 AMR PEL ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG01981 hp2 a0001 c0001 t0001 g0102 AMR PEL ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG01993 hp1 a0001 c0001 t0001 g0171 AMR PEL ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG01993 hp2 a0001 c0001 t0001 g0161 AMR PEL ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG02004 hp1 a0001 c0001 t0001 g0020 AMR PEL ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG02004 hp2 a0001 c0001 t0002 g0173 AMR PEL ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG02027 hp1 a0003 c0003 t0001 g0005 EAS KHV ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG02027 hp2 a0001 c0001 t0002 g0251 EAS KHV ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG02040 hp1 a0002 c0002 t0003 g0245 EAS KHV ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG02040 hp2 a0001 c0001 t0001 g0003 EAS KHV ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG02056 hp1 a0001 c0001 t0001 g0003 EAS KHV ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG02056 hp2 a0002 c0002 t0002 g0100 EAS KHV ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG02071 hp1 a0002 c0002 t0002 g0092 EAS KHV ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG02071 hp2 a0001 c0001 t0001 g0019 EAS KHV ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG02074 hp1 a0001 c0001 t0001 g0002 EAS KHV ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG02074 hp2 a0001 c0001 t0001 g0153 EAS KHV ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG02080 hp1 a0001 c0001 t0001 g0019 EAS KHV ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG02080 hp2 a0002 c0002 t0001 g0150 EAS KHV ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG02083 hp1 a0001 c0001 t0007 g0064 EAS KHV ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG02083 hp2 a0002 c0002 t0003 g0004 EAS KHV ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG02129 hp1 a0001 c0001 t0001 g0214 EAS KHV ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG02129 hp2 a0002 c0002 t0002 g0133 EAS KHV ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG02132 hp1 a0003 c0003 t0001 g0012 EAS KHV ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG02132 hp2 a0002 c0002 t0002 g0001 EAS KHV ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG02135 hp1 a0003 c0003 t0001 g0005 EAS KHV ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG02135 hp2 a0002 c0002 t0002 g0034 EAS KHV ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG02145 hp1 a0002 c0002 t0002 g0001 AFR ACB ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG02145 hp2 a0002 c0002 t0003 g0274 AFR ACB ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG02148 hp1 a0006 c0006 t0003 g0023 AMR PEL ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG02148 hp2 a0001 c0001 t0001 g0205 AMR PEL ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG02165 hp1 a0001 c0001 t0001 g0015 EAS CDX ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG02165 hp2 a0002 c0002 t0003 g0105 EAS CDX ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG02257 hp1 a0001 c0001 t0004 g0010 AFR ACB ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG02257 hp2 a0001 c0007 t0023 g0279 AFR ACB ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG02258 hp1 a0003 c0003 t0005 g0024 AFR ACB ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG02258 hp2 a0003 c0003 t0005 g0206 AFR ACB ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG02273 hp1 a0001 c0001 t0004 g0089 AMR PEL ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG02273 hp2 a0002 c0002 t0002 g0001 AMR PEL ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG02280 hp1 a0001 c0001 t0001 g0179 AFR ACB ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG02280 hp2 a0003 c0003 t0008 g0088 AFR ACB ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG02293 hp1 a0001 c0001 t0001 g0072 AMR PEL ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG02293 hp2 a0001 c0001 t0004 g0069 AMR PEL ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG02300 hp1 a0001 c0001 t0004 g0083 AMR PEL ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG02300 hp2 a0002 c0002 t0002 g0008 AMR PEL ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG02451 hp1 a0003 c0003 t0013 g0271 AFR ACB ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG02451 hp2 a0001 c0001 t0002 g0042 AFR ACB ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG02523 hp1 a0002 c0002 t0002 g0037 EAS KHV ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG02523 hp2 a0003 c0003 t0001 g0005 EAS KHV ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG02572 hp1 a0002 c0002 t0002 g0021 AFR GWD ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG02572 hp2 a0002 c0002 t0030 g0254 AFR GWD ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG02602 hp1 a0002 c0002 t0003 g0238 SAS PJL ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG02602 hp2 a0002 c0002 t0002 g0001 SAS PJL ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG02615 hp1 a0001 c0001 t0007 g0229 AFR GWD ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG02615 hp2 a0002 c0002 t0002 g0001 AFR GWD ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG02622 hp1 a0002 c0002 t0002 g0137 AFR GWD ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG02622 hp2 a0003 c0003 t0026 g0268 AFR GWD ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG02630 hp1 a0001 c0001 t0007 g0228 AFR GWD ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG02630 hp2 a0003 c0003 t0005 g0026 AFR GWD ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG02647 hp1 a0003 c0003 t0005 g0264 AFR GWD ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG02647 hp2 a0003 c0003 t0009 g0219 AFR GWD ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG02683 hp1 a0001 c0008 t0006 g0218 SAS PJL ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG02683 hp2 a0003 c0003 t0001 g0051 SAS PJL ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG02698 hp1 a0005 c0005 t0001 g0213 SAS PJL ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG02698 hp2 a0005 c0005 t0011 g0212 SAS PJL ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG02717 hp1 a0003 c0003 t0005 g0276 AFR GWD ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG02717 hp2 a0002 c0002 t0003 g0025 AFR GWD ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG02723 hp1 a0003 c0003 t0009 g0014 AFR GWD ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG02723 hp2 a0001 c0001 t0001 g0170 AFR GWD ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG02735 hp1 a0001 c0001 t0006 g0217 SAS PJL ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG02735 hp2 a0003 c0003 t0001 g0051 SAS PJL ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG02738 hp1 a0001 c0001 t0001 g0002 SAS PJL ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG02738 hp2 a0002 c0002 t0003 g0248 SAS PJL ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG02809 hp1 a0003 c0003 t0005 g0026 AFR GWD ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG02809 hp2 a0003 c0003 t0002 g0223 AFR GWD ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG02818 hp1 a0003 c0003 t0009 g0014 AFR GWD ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG02818 hp2 a0003 c0003 t0005 g0056 AFR GWD ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG02886 hp1 a0002 c0002 t0003 g0266 AFR GWD ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG02886 hp2 a0003 c0003 t0008 g0022 AFR GWD ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG02895 hp1 a0002 c0002 t0003 g0275 AFR GWD ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG02895 hp2 a0001 c0001 t0014 g0027 AFR GWD ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG02896 hp1 a0003 c0003 t0009 g0014 AFR GWD ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG02896 hp2 a0001 c0001 t0002 g0220 AFR GWD ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG02897 hp1 a0001 c0001 t0014 g0027 AFR GWD ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG02897 hp2 a0003 c0003 t0009 g0014 AFR GWD ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG02922 hp1 a0002 c0002 t0002 g0144 AFR ESN ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG02922 hp2 a0002 c0002 t0002 g0138 AFR ESN ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG02965 hp1 a0002 c0002 t0002 g0258 AFR ESN ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG02965 hp2 a0002 c0002 t0002 g0140 AFR ESN ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG02970 hp1 a0002 c0002 t0002 g0021 AFR ESN ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG02970 hp2 a0002 c0002 t0002 g0209 AFR ESN ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG02976 hp1 a0003 c0003 t0008 g0085 AFR ESN ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG02976 hp2 a0001 c0001 t0013 g0281 AFR ESN ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG03017 hp1 a0005 c0005 t0011 g0211 SAS PJL ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG03017 hp2 a0001 c0001 t0001 g0002 SAS PJL ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG03041 hp1 a0003 c0003 t0005 g0263 AFR GWD ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG03041 hp2 a0001 c0001 t0007 g0260 AFR GWD ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG03098 hp1 a0002 c0002 t0003 g0060 AFR MSL ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG03098 hp2 a0002 c0002 t0002 g0028 AFR MSL ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG03130 hp1 a0003 c0003 t0008 g0030 AFR ESN ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG03130 hp2 a0002 c0002 t0003 g0025 AFR ESN ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG03139 hp1 a0003 c0003 t0010 g0164 AFR ESN ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG03139 hp2 a0002 c0002 t0003 g0267 AFR ESN ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG03195 hp1 a0001 c0001 t0004 g0079 AFR ESN ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG03195 hp2 a0003 c0003 t0010 g0052 AFR ESN ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG03209 hp1 a0001 c0001 t0002 g0235 AFR MSL ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG03209 hp2 a0001 c0001 t0002 g0216 AFR MSL ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG03225 hp1 a0001 c0001 t0022 g0082 AFR MSL ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG03225 hp2 a0002 c0002 t0005 g0241 AFR MSL ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG03239 hp1 a0002 c0002 t0002 g0039 SAS PJL ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG03239 hp2 a0002 c0002 t0027 g0242 SAS PJL ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG03453 hp1 a0003 c0003 t0005 g0277 AFR MSL ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG03453 hp2 a0003 c0003 t0009 g0062 AFR MSL ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG03486 hp1 a0002 c0002 t0002 g0028 AFR MSL ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG03486 hp2 a0002 c0002 t0002 g0055 AFR MSL ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG03491 hp1 a0002 c0002 t0003 g0237 SAS PJL ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG03491 hp2 a0001 c0001 t0001 g0175 SAS PJL ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG03492 hp1 a0001 c0001 t0001 g0002 SAS PJL ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG03492 hp2 a0002 c0002 t0002 g0001 SAS PJL ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG03540 hp1 a0001 c0001 t0004 g0029 AFR GWD ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG03540 hp2 a0002 c0002 t0018 g0270 AFR GWD ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG03579 hp1 a0002 c0002 t0003 g0273 AFR MSL ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG03579 hp2 a0003 c0003 t0008 g0086 AFR MSL ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG03669 hp1 a0001 c0001 t0001 g0182 SAS PJL ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG03669 hp2 a0002 c0002 t0003 g0004 SAS PJL ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG03688 hp1 a0001 c0001 t0001 g0278 SAS STU ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG03688 hp2 a0002 c0002 t0002 g0001 SAS STU ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG03704 hp1 a0002 c0002 t0003 g0246 SAS PJL ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG03704 hp2 a0001 c0001 t0001 g0002 SAS PJL ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG03710 hp1 a0001 c0001 t0001 g0002 SAS PJL ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG03710 hp2 a0003 c0003 t0017 g0272 SAS PJL ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG03831 hp1 a0002 c0002 t0003 g0210 SAS BEB ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG03831 hp2 a0002 c0002 t0002 g0155 SAS BEB ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG03834 hp1 a0005 c0005 t0011 g0046 SAS BEB ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG03834 hp2 a0002 c0002 t0003 g0160 SAS BEB ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG03927 hp1 a0001 c0001 t0006 g0222 SAS BEB ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG03927 hp2 a0001 c0001 t0001 g0257 SAS BEB ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG03942 hp1 a0001 c0001 t0003 g0159 SAS BEB ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG03942 hp2 a0002 c0002 t0002 g0196 SAS BEB ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG04115 hp1 a0001 c0001 t0007 g0058 SAS STU ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG04115 hp2 a0002 c0002 t0003 g0118 SAS STU ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG04184 hp1 a0001 c0001 t0001 g0172 SAS BEB ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG04184 hp2 a0001 c0001 t0001 g0015 SAS BEB ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG04204 hp1 a0001 c0001 t0020 g0076 SAS STU ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG04204 hp2 a0002 c0002 t0003 g0236 SAS STU ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG04228 hp1 a0003 c0003 t0001 g0269 SAS STU ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG04228 hp2 a0005 c0005 t0011 g0046 SAS STU ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
NA18522 hp1 a0003 c0003 t0005 g0168 AFR YRI ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
NA18522 hp2 a0002 c0002 t0003 g0025 AFR YRI ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
NA18612 hp1 a0001 c0001 t0004 g0011 EAS CHB ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
NA18612 hp2 a0003 c0003 t0001 g0005 EAS CHB ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
NA18747 hp1 a0002 c0002 t0002 g0141 EAS CHB ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
NA18747 hp2 a0001 c0001 t0001 g0259 EAS CHB ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
NA18906 hp1 a0003 c0003 t0008 g0022 AFR YRI ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
NA18906 hp2 a0003 c0003 t0005 g0024 AFR YRI ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
NA18939 hp1 a0002 c0002 t0003 g0004 EAS JPT ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
NA18939 hp2 a0001 c0001 t0006 g0154 EAS JPT ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
NA18940 hp1 a0002 c0002 t0002 g0151 EAS JPT ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
NA18940 hp2 a0001 c0001 t0006 g0225 EAS JPT ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
NA18941 hp1 a0002 c0002 t0001 g0013 EAS JPT ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
NA18941 hp2 a0002 c0002 t0028 g0249 EAS JPT ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
NA18942 hp1 a0002 c0002 t0002 g0018 EAS JPT ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
NA18942 hp2 a0001 c0001 t0001 g0009 EAS JPT ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
NA18943 hp1 a0002 c0002 t0003 g0004 EAS JPT ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
NA18943 hp2 a0001 c0001 t0001 g0003 EAS JPT ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
NA18944 hp1 a0004 c0004 t0003 g0007 EAS JPT ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
NA18944 hp2 a0001 c0001 t0001 g0003 EAS JPT ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
NA18945 hp1 a0001 c0001 t0012 g0050 EAS JPT ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
NA18945 hp2 a0001 c0001 t0004 g0011 EAS JPT ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
NA18947 hp1 a0002 c0002 t0003 g0031 EAS JPT ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
NA18947 hp2 a0001 c0001 t0012 g0262 EAS JPT ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
NA18948 hp1 a0002 c0002 t0029 g0107 EAS JPT ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
NA18948 hp2 a0004 c0004 t0003 g0007 EAS JPT ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
NA18949 hp1 a0002 c0002 t0003 g0049 EAS JPT ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
NA18949 hp2 a0001 c0001 t0004 g0066 EAS JPT ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
NA18950 hp1 a0002 c0002 t0003 g0098 EAS JPT ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
NA18950 hp2 a0001 c0001 t0032 g0176 EAS JPT ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
NA18952 hp1 a0002 c0002 t0003 g0095 EAS JPT ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
NA18952 hp2 a0001 c0001 t0001 g0124 EAS JPT ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
NA18953 hp1 a0001 c0001 t0031 g0117 EAS JPT ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
NA18953 hp2 a0002 c0002 t0003 g0049 EAS JPT ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
NA18954 hp1 a0001 c0001 t0001 g0040 EAS JPT ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
NA18954 hp2 a0002 c0002 t0003 g0004 EAS JPT ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
NA18956 hp1 a0001 c0001 t0001 g0003 EAS JPT ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
NA18956 hp2 a0002 c0002 t0003 g0101 EAS JPT ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
NA18959 hp1 a0002 c0002 t0002 g0037 EAS JPT ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
NA18959 hp2 a0001 c0001 t0015 g0181 EAS JPT ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
NA18960 hp1 a0001 c0001 t0001 g0003 EAS JPT ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
NA18960 hp2 a0002 c0002 t0019 g0243 EAS JPT ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
NA18962 hp1 a0003 c0003 t0001 g0012 EAS JPT ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
NA18962 hp2 a0002 c0002 t0003 g0113 EAS JPT ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
NA18963 hp1 a0002 c0002 t0002 g0149 EAS JPT ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
NA18963 hp2 a0003 c0003 t0001 g0033 EAS JPT ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
NA18965 hp1 a0002 c0002 t0001 g0032 EAS JPT ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
NA18965 hp2 a0002 c0002 t0003 g0134 EAS JPT ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
NA18966 hp1 a0002 c0002 t0003 g0116 EAS JPT ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
NA18966 hp2 a0002 c0002 t0002 g0285 EAS JPT ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
NA18967 hp1 a0001 c0001 t0001 g0203 EAS JPT ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
NA18967 hp2 a0001 c0001 t0004 g0068 EAS JPT ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
NA18968 hp1 a0003 c0003 t0001 g0121 EAS JPT ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
NA18968 hp2 a0001 c0001 t0001 g0256 EAS JPT ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
NA18969 hp1 a0002 c0002 t0002 g0001 EAS JPT ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
NA18969 hp2 a0002 c0002 t0002 g0099 EAS JPT ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
NA18970 hp1 a0002 c0002 t0001 g0032 EAS JPT ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
NA18970 hp2 a0001 c0001 t0001 g0226 EAS JPT ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
NA18972 hp1 a0001 c0001 t0004 g0084 EAS JPT ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
NA18972 hp2 a0001 c0001 t0001 g0230 EAS JPT ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
NA18974 hp1 a0001 c0001 t0001 g0003 EAS JPT ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
NA18974 hp2 a0001 c0001 t0001 g0040 EAS JPT ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
NA18975 hp1 a0001 c0001 t0016 g0043 EAS JPT ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
NA18975 hp2 a0002 c0002 t0002 g0018 EAS JPT ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
NA18977 hp1 a0002 c0002 t0006 g0147 EAS JPT ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
NA18977 hp2 a0002 c0002 t0003 g0111 EAS JPT ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
NA18978 hp1 a0001 c0001 t0001 g0123 EAS JPT ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
NA18978 hp2 a0002 c0002 t0003 g0247 EAS JPT ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
NA18979 hp1 a0002 c0002 t0003 g0233 EAS JPT ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
NA18979 hp2 a0001 c0001 t0006 g0047 EAS JPT ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
NA18981 hp1 a0002 c0002 t0001 g0013 EAS JPT ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
NA18981 hp2 a0002 c0002 t0003 g0006 EAS JPT ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
NA18982 hp1 a0003 c0003 t0001 g0129 EAS JPT ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
NA18982 hp2 a0002 c0002 t0001 g0013 EAS JPT ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
NA18983 hp1 a0002 c0002 t0001 g0013 EAS JPT ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
NA18983 hp2 a0003 c0003 t0001 g0127 EAS JPT ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
NA18984 hp1 a0004 c0004 t0003 g0007 EAS JPT ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
NA18984 hp2 a0002 c0002 t0002 g0001 EAS JPT ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
NA18986 hp1 a0004 c0004 t0003 g0114 EAS JPT ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
NA18986 hp2 a0001 c0001 t0006 g0224 EAS JPT ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
NA18988 hp1 a0002 c0002 t0003 g0252 EAS JPT ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
NA18988 hp2 a0003 c0003 t0001 g0126 EAS JPT ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
NA18991 hp1 a0002 c0002 t0003 g0004 EAS JPT ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
NA18991 hp2 a0002 c0002 t0003 g0110 EAS JPT ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
NA18992 hp1 a0001 c0001 t0001 g0183 EAS JPT ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
NA18992 hp2 a0002 c0002 t0003 g0004 EAS JPT ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
NA18993 hp1 a0002 c0002 t0002 g0001 EAS JPT ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
NA18993 hp2 a0001 c0001 t0001 g0015 EAS JPT ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
NA18995 hp1 a0001 c0001 t0004 g0011 EAS JPT ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
NA18995 hp2 a0001 c0001 t0006 g0047 EAS JPT ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
NA18997 hp1 a0001 c0001 t0001 g0009 EAS JPT ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
NA18997 hp2 a0001 c0001 t0001 g0015 EAS JPT ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
NA18998 hp1 a0002 c0002 t0003 g0048 EAS JPT ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
NA18998 hp2 a0001 c0001 t0001 g0261 EAS JPT ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
NA18999 hp1 a0001 c0001 t0004 g0090 EAS JPT ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
NA18999 hp2 a0002 c0002 t0003 g0103 EAS JPT ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
NA19001 hp1 a0001 c0001 t0001 g0231 EAS JPT ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
NA19001 hp2 a0002 c0002 t0003 g0006 EAS JPT ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
NA19004 hp1 a0002 c0002 t0003 g0006 EAS JPT ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
NA19004 hp2 a0001 c0001 t0004 g0070 EAS JPT ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
NA19006 hp1 a0003 c0003 t0001 g0012 EAS JPT ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
NA19006 hp2 a0001 c0001 t0001 g0190 EAS JPT ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
NA19007 hp1 a0003 c0003 t0001 g0012 EAS JPT ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
NA19007 hp2 a0002 c0002 t0003 g0006 EAS JPT ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
NA19010 hp1 a0006 c0006 t0003 g0234 EAS JPT ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
NA19010 hp2 a0003 c0003 t0001 g0280 EAS JPT ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
NA19011 hp1 a0002 c0002 t0003 g0097 EAS JPT ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
NA19011 hp2 a0001 c0001 t0001 g0019 EAS JPT ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
NA19030 hp1 a0001 c0001 t0001 g0187 AFR LWK ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
NA19030 hp2 a0001 c0001 t0001 g0174 AFR LWK ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
NA19043 hp1 a0001 c0001 t0004 g0029 AFR LWK ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
NA19043 hp2 a0003 c0003 t0005 g0063 AFR LWK ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
NA19054 hp1 a0002 c0002 t0002 g0001 EAS JPT ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
NA19054 hp2 a0001 c0001 t0004 g0080 EAS JPT ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
NA19055 hp1 a0002 c0002 t0003 g0108 EAS JPT ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
NA19055 hp2 a0001 c0009 t0001 g0094 EAS JPT ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
NA19056 hp1 a0002 c0002 t0002 g0148 EAS JPT ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
NA19056 hp2 a0001 c0001 t0001 g0192 EAS JPT ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
NA19057 hp1 a0002 c0002 t0004 g0112 EAS JPT ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
NA19057 hp2 a0001 c0001 t0001 g0003 EAS JPT ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
NA19058 hp1 a0002 c0002 t0002 g0001 EAS JPT ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
NA19058 hp2 a0001 c0001 t0001 g0009 EAS JPT ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
NA19060 hp1 a0002 c0002 t0002 g0132 EAS JPT ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
NA19060 hp2 a0001 c0001 t0006 g0221 EAS JPT ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
NA19062 hp1 a0003 c0003 t0001 g0005 EAS JPT ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
NA19062 hp2 a0001 c0001 t0016 g0043 EAS JPT ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
NA19063 hp1 a0002 c0002 t0002 g0034 EAS JPT ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
NA19063 hp2 a0002 c0002 t0003 g0250 EAS JPT ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
NA19064 hp1 a0002 c0002 t0003 g0239 EAS JPT ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
NA19064 hp2 a0001 c0001 t0006 g0215 EAS JPT ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
NA19066 hp1 a0001 c0001 t0034 g0186 EAS JPT ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
NA19066 hp2 a0002 c0002 t0002 g0001 EAS JPT ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
NA19067 hp1 a0002 c0002 t0003 g0255 EAS JPT ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
NA19067 hp2 a0002 c0002 t0002 g0131 EAS JPT ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
NA19068 hp1 a0004 c0004 t0003 g0007 EAS JPT ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
NA19068 hp2 a0002 c0002 t0035 g0286 EAS JPT ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
NA19074 hp1 a0001 c0001 t0001 g0194 EAS JPT ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
NA19074 hp2 a0003 c0003 t0001 g0125 EAS JPT ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
NA19076 hp1 a0003 c0003 t0001 g0119 EAS JPT ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
NA19076 hp2 a0002 c0002 t0001 g0136 EAS JPT ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
NA19077 hp1 a0002 c0002 t0002 g0017 EAS JPT ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
NA19077 hp2 a0001 c0001 t0001 g0002 EAS JPT ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
NA19081 hp1 a0001 c0001 t0001 g0185 EAS JPT ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
NA19081 hp2 a0002 c0002 t0003 g0048 EAS JPT ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
NA19082 hp1 a0004 c0004 t0003 g0007 EAS JPT ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
NA19082 hp2 a0001 c0001 t0002 g0200 EAS JPT ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
NA19083 hp1 a0003 c0003 t0001 g0005 EAS JPT ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
NA19083 hp2 a0001 c0001 t0001 g0284 EAS JPT ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
NA19084 hp1 a0002 c0002 t0003 g0115 EAS JPT ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
NA19084 hp2 a0001 c0001 t0001 g0184 EAS JPT ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
NA19086 hp1 a0001 c0001 t0004 g0071 EAS JPT ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
NA19086 hp2 a0002 c0002 t0002 g0018 EAS JPT ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
NA19087 hp1 a0002 c0002 t0003 g0004 EAS JPT ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
NA19087 hp2 a0001 c0001 t0001 g0197 EAS JPT ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
NA19088 hp1 a0001 c0001 t0001 g0009 EAS JPT ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
NA19088 hp2 a0002 c0002 t0003 g0006 EAS JPT ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
NA19090 hp1 a0001 c0001 t0015 g0162 EAS JPT ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
NA19090 hp2 a0001 c0001 t0004 g0067 EAS JPT ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
NA19240 hp1 a0003 c0003 t0009 g0198 AFR YRI ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
NA19240 hp2 a0003 c0003 t0024 g0282 AFR YRI ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
NA20129 hp1 a0003 c0003 t0008 g0087 AFR ASW ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
NA20129 hp2 a0002 c0002 t0003 g0059 AFR ASW ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
NA20752 hp1 a0002 c0002 t0003 g0106 EUR TSI ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
NA20752 hp2 a0001 c0001 t0001 g0041 EUR TSI ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
NA20805 hp1 a0002 c0002 t0002 g0139 EUR TSI ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
NA20805 hp2 a0002 c0002 t0002 g0008 EUR TSI ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
NA20905 hp1 a0001 c0001 t0001 g0002 SAS GIH ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
NA20905 hp2 a0002 c0002 t0003 g0232 SAS GIH ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG02109 hp1 a0003 c0003 t0010 g0052 AFR ACB ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG02109 hp2 a0003 c0003 t0009 g0199 AFR ACB ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG02486 hp1 a0002 c0002 t0002 g0142 AFR ACB ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG02486 hp2 a0001 c0001 t0001 g0167 AFR ACB ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG02559 hp1 a0003 c0003 t0005 g0024 AFR ACB ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG02559 hp2 a0002 c0002 t0033 g0053 AFR ACB ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG03471 hp1 a0002 c0002 t0003 g0061 AFR MSL ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG03471 hp2 a0003 c0003 t0005 g0265 AFR MSL ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG06807 hp1 a0001 c0001 t0004 g0081 AFR USA ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
HG06807 hp2 a0002 c0002 t0002 g0036 AFR USA ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
NA18955 hp1 a0004 c0004 t0003 g0007 EAS JPT ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
NA18955 hp2 a0002 c0002 t0003 g0109 EAS JPT ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
NA21309 hp1 a0002 c0002 t0002 g0145 AFR LWK ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
NA21309 hp2 a0002 c0002 t0025 g0054 AFR LWK ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
homoSapiens_chm13v2 hp1 a0001 c0001 t0001 g0002 REF REF ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107
homoSapiens_grch38 hp1 a0003 c0003 t0001 g0128 REF REF ASAH1_chr8_18050992_18089107 ASAH1 chr8 18050992 18089107

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
chr8:18057617 C
C
 T
T
 1 a0006
a0006
 5 HG00438.hp1
HG00558.hp1
HG00621.hp1
others(2): Show 
HG00438.hp1
HG00558.hp1
HG00621.hp1
HG02148.hp1
NA19010.hp1
 missense_variant MODERATE c.1105G>A
c.1105G>A
 p.Val369Ile
p.Val369Ile
 ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 14/14 1154/2779 1105/1188 369/395 chr8 18057617
chr8:18059579 C
C
 G
G
 1 a0004
a0004
 7 NA18944.hp1
NA18948.hp2
NA18955.hp1
others(4): Show 
NA18944.hp1
NA18948.hp2
NA18955.hp1
NA18984.hp1
NA18986.hp1
NA19068.hp1
NA19082.hp1
 missense_variant MODERATE c.910G>C
c.910G>C
 p.Val304Leu
p.Val304Leu
 ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 11/14 959/2779 910/1188 304/395 chr8 18059579
chr8:18061425 A
A
 G
G
 5 a0001
a0002
a0004
others(2): Show 
a0001
a0002
a0004
a0005
a0006
 353 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(350): 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
HG00558.hp1
HG00597.hp1
HG00597.hp2
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02738.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp2
NA18612.hp1
NA18747.hp1
NA18747.hp2
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp1
NA18956.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp2
NA18983.hp1
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18986.hp2
NA18988.hp1
NA18991.hp1
NA18991.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18995.hp1
NA18995.hp2
NA18997.hp1
NA18997.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19001.hp1
NA19001.hp2
NA19004.hp1
NA19004.hp2
NA19006.hp2
NA19007.hp2
NA19010.hp1
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19054.hp1
NA19054.hp2
NA19055.hp1
NA19055.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19057.hp2
NA19058.hp1
NA19058.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19076.hp2
NA19077.hp1
NA19077.hp2
NA19081.hp1
NA19081.hp2
NA19082.hp1
NA19082.hp2
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 missense_variant MODERATE c.737T>C
c.737T>C
 p.Val246Ala
p.Val246Ala
 ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 10/14 786/2779 737/1188 246/395 chr8 18061425
chr8:18067230 A
A
 T
T
 1 a0005
a0005
 5 HG02698.hp1
HG02698.hp2
HG03017.hp1
others(2): Show 
HG02698.hp1
HG02698.hp2
HG03017.hp1
HG03834.hp1
HG04228.hp2
 missense_variant MODERATE c.372T>A
c.372T>A
 p.Asp124Glu
p.Asp124Glu
 ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 5/14 421/2779 372/1188 124/395 chr8 18067230
chr8:18069818 T
T
 C
C
 2 a0001
a0005
a0001
a0005
 178 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(175): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00438.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp2
HG00738.hp2
HG00741.hp1
HG01070.hp1
HG01081.hp1
HG01081.hp2
HG01109.hp1
HG01167.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01243.hp1
HG01255.hp1
HG01256.hp2
HG01257.hp2
HG01261.hp1
HG01261.hp2
HG01358.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp2
HG01884.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp2
HG02040.hp2
HG02056.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02083.hp1
HG02129.hp1
HG02148.hp2
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02273.hp1
HG02280.hp1
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02451.hp2
HG02486.hp2
HG02615.hp1
HG02630.hp1
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03491.hp2
HG03492.hp1
HG03540.hp1
HG03669.hp1
HG03688.hp1
HG03704.hp2
HG03710.hp1
HG03834.hp1
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG04115.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
NA18612.hp1
NA18747.hp2
NA18939.hp2
NA18940.hp2
NA18942.hp2
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp2
NA18949.hp2
NA18950.hp2
NA18952.hp2
NA18953.hp1
NA18954.hp1
NA18956.hp1
NA18959.hp2
NA18960.hp1
NA18967.hp1
NA18967.hp2
NA18968.hp2
NA18970.hp2
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18975.hp1
NA18978.hp1
NA18979.hp2
NA18986.hp2
NA18992.hp1
NA18993.hp2
NA18995.hp1
NA18995.hp2
NA18997.hp1
NA18997.hp2
NA18998.hp2
NA18999.hp1
NA19001.hp1
NA19004.hp2
NA19006.hp2
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19054.hp2
NA19055.hp2
NA19056.hp2
NA19057.hp2
NA19058.hp2
NA19060.hp2
NA19062.hp2
NA19064.hp2
NA19066.hp1
NA19074.hp1
NA19077.hp2
NA19081.hp1
NA19082.hp2
NA19083.hp2
NA19084.hp2
NA19086.hp1
NA19087.hp2
NA19088.hp1
NA19090.hp1
NA19090.hp2
NA20752.hp2
NA20905.hp1
homoSapiens_chm13v2.hp1
 missense_variant MODERATE c.277A>G
c.277A>G
 p.Ile93Val
p.Ile93Val
 ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 4/14 326/2779 277/1188 93/395 chr8 18069818
chr8:18071302 C
C
 T
T
 2 a0001
a0005
a0001
a0005
 178 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(175): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00438.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp2
HG00738.hp2
HG00741.hp1
HG01070.hp1
HG01081.hp1
HG01081.hp2
HG01109.hp1
HG01167.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01243.hp1
HG01255.hp1
HG01256.hp2
HG01257.hp2
HG01261.hp1
HG01261.hp2
HG01358.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp2
HG01884.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp2
HG02040.hp2
HG02056.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02083.hp1
HG02129.hp1
HG02148.hp2
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02273.hp1
HG02280.hp1
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02451.hp2
HG02486.hp2
HG02615.hp1
HG02630.hp1
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03491.hp2
HG03492.hp1
HG03540.hp1
HG03669.hp1
HG03688.hp1
HG03704.hp2
HG03710.hp1
HG03834.hp1
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG04115.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
NA18612.hp1
NA18747.hp2
NA18939.hp2
NA18940.hp2
NA18942.hp2
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp2
NA18949.hp2
NA18950.hp2
NA18952.hp2
NA18953.hp1
NA18954.hp1
NA18956.hp1
NA18959.hp2
NA18960.hp1
NA18967.hp1
NA18967.hp2
NA18968.hp2
NA18970.hp2
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18975.hp1
NA18978.hp1
NA18979.hp2
NA18986.hp2
NA18992.hp1
NA18993.hp2
NA18995.hp1
NA18995.hp2
NA18997.hp1
NA18997.hp2
NA18998.hp2
NA18999.hp1
NA19001.hp1
NA19004.hp2
NA19006.hp2
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19054.hp2
NA19055.hp2
NA19056.hp2
NA19057.hp2
NA19058.hp2
NA19060.hp2
NA19062.hp2
NA19064.hp2
NA19066.hp1
NA19074.hp1
NA19077.hp2
NA19081.hp1
NA19082.hp2
NA19083.hp2
NA19084.hp2
NA19086.hp1
NA19087.hp2
NA19088.hp1
NA19090.hp1
NA19090.hp2
NA20752.hp2
NA20905.hp1
homoSapiens_chm13v2.hp1
 missense_variant&splice_region_variant MODERATE c.214G>A
c.214G>A
 p.Val72Met
p.Val72Met
 ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 3/14 263/2779 214/1188 72/395 chr8 18071302

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
chr8:18061723 T
T
 C
C
 1 a0001c0007
a0001c0007
 1 HG02257.hp2
HG02257.hp2
 synonymous_variant LOW c.666A>G
c.666A>G
 p.Thr222Thr
p.Thr222Thr
 ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 9/14 715/2779 666/1188 222/395 chr8 18061723
chr8:18067221 T
T
 C
C
 1 a0001c0008
a0001c0008
 1 HG02683.hp1
HG02683.hp1
 splice_region_variant&synonymous_variant LOW c.381A>G
c.381A>G
 p.Leu127Leu
p.Leu127Leu
 ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 5/14 430/2779 381/1188 127/395 chr8 18067221
chr8:18069834 G
G
 A
A
 1 a0001c0009
a0001c0009
 1 NA19055.hp2
NA19055.hp2
 synonymous_variant LOW c.261C>T
c.261C>T
 p.Phe87Phe
p.Phe87Phe
 ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 4/14 310/2779 261/1188 87/395 chr8 18069834

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
chr8:18056042 C
C
 T
T
 1 a0002c0002t0029
a0002c0002t0029
 1 NA18948.hp1
NA18948.hp1
 3_prime_UTR_variant MODIFIER c.*1492G>A
c.*1492G>A
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 14/14 1492 chr8 18056042
chr8:18056145 C
C
 T
T
 3 a0001c0001t0014
a0002c0002t0018
a0002c0002t0025
a0001c0001t0014
a0002c0002t0018
a0002c0002t0025
 4 HG02895.hp2
HG02897.hp1
HG03540.hp2
others(1): Show 
HG02895.hp2
HG02897.hp1
HG03540.hp2
NA21309.hp2
 3_prime_UTR_variant MODIFIER c.*1389G>A
c.*1389G>A
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 14/14 1389 chr8 18056145
chr8:18056166 A
A
 G
G
 1 a0001c0001t0020
a0001c0001t0020
 1 HG04204.hp1
HG04204.hp1
 3_prime_UTR_variant MODIFIER c.*1368T>C
c.*1368T>C
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 14/14 1368 chr8 18056166
chr8:18056186 A
A
 G
G
 1 a0003c0003t0024
a0003c0003t0024
 1 NA19240.hp2
NA19240.hp2
 3_prime_UTR_variant MODIFIER c.*1348T>C
c.*1348T>C
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 14/14 1348 chr8 18056186
chr8:18056244 T
T
 C
C
 5 a0001c0001t0013
a0001c0001t0032
a0003c0003t0013
others(2): Show 
a0001c0001t0013
a0001c0001t0032
a0003c0003t0013
a0003c0003t0017
a0005c0005t0011
 8 HG02451.hp1
HG02698.hp2
HG02976.hp2
others(5): Show 
HG02451.hp1
HG02698.hp2
HG02976.hp2
HG03017.hp1
HG03710.hp2
HG03834.hp1
HG04228.hp2
NA18950.hp2
 3_prime_UTR_variant MODIFIER c.*1290A>G
c.*1290A>G
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 14/14 1290 chr8 18056244
chr8:18056289 A
A
 G
G
 2 a0001c0001t0013
a0003c0003t0013
a0001c0001t0013
a0003c0003t0013
 2 HG02451.hp1
HG02976.hp2
HG02451.hp1
HG02976.hp2
 3_prime_UTR_variant MODIFIER c.*1245T>C
c.*1245T>C
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 14/14 1245 chr8 18056289
chr8:18056302 C
C
 G
G
 2 a0003c0003t0010
a0003c0003t0024
a0003c0003t0010
a0003c0003t0024
 5 HG01891.hp1
HG02109.hp1
HG03139.hp1
others(2): Show 
HG01891.hp1
HG02109.hp1
HG03139.hp1
HG03195.hp2
NA19240.hp2
 3_prime_UTR_variant MODIFIER c.*1232G>C
c.*1232G>C
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 14/14 1232 chr8 18056302
chr8:18056304 G
G
 A
A
 11 a0001c0001t0002
a0001c0001t0006
a0001c0001t0013
others(8): Show 
a0001c0001t0002
a0001c0001t0006
a0001c0001t0013
a0001c0001t0022
a0001c0008t0006
a0002c0002t0002
a0002c0002t0006
a0003c0003t0002
a0003c0003t0013
a0003c0003t0026
a0005c0005t0011
 113 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(110): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00323.hp1
HG00597.hp2
HG00621.hp2
HG00639.hp1
HG00642.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01070.hp2
HG01081.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01243.hp2
HG01255.hp2
HG01256.hp1
HG01257.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01361.hp2
HG01516.hp2
HG01517.hp1
HG01934.hp2
HG01978.hp1
HG02004.hp2
HG02027.hp2
HG02056.hp2
HG02071.hp1
HG02129.hp2
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02273.hp2
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02523.hp1
HG02572.hp1
HG02602.hp2
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02683.hp1
HG02698.hp2
HG02735.hp1
HG02809.hp2
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03017.hp1
HG03098.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03239.hp1
HG03486.hp1
HG03486.hp2
HG03492.hp2
HG03688.hp2
HG03831.hp2
HG03834.hp1
HG03927.hp1
HG03942.hp2
HG04228.hp2
HG06807.hp2
NA18747.hp1
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18942.hp1
NA18959.hp1
NA18963.hp1
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18975.hp2
NA18977.hp1
NA18979.hp2
NA18984.hp2
NA18986.hp2
NA18993.hp1
NA18995.hp2
NA19054.hp1
NA19056.hp1
NA19058.hp1
NA19060.hp1
NA19060.hp2
NA19063.hp1
NA19064.hp2
NA19066.hp2
NA19067.hp2
NA19077.hp1
NA19082.hp2
NA19086.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
 3_prime_UTR_variant MODIFIER c.*1230C>T
c.*1230C>T
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 14/14 1230 chr8 18056304
chr8:18056431 G
G
 A
A
 8 a0001c0001t0003
a0002c0002t0003
a0002c0002t0019
others(5): Show 
a0001c0001t0003
a0002c0002t0003
a0002c0002t0019
a0002c0002t0027
a0002c0002t0029
a0002c0002t0033
a0004c0004t0003
a0006c0006t0003
 83 HG00423.hp2
HG00438.hp1
HG00558.hp1
others(80): Show 
HG00423.hp2
HG00438.hp1
HG00558.hp1
HG00597.hp1
HG00621.hp1
HG01106.hp2
HG01358.hp1
HG01943.hp2
HG01975.hp2
HG02040.hp1
HG02083.hp2
HG02145.hp2
HG02148.hp1
HG02165.hp2
HG02559.hp2
HG02602.hp1
HG02717.hp2
HG02738.hp2
HG02886.hp1
HG02895.hp1
HG03098.hp1
HG03130.hp2
HG03139.hp2
HG03239.hp2
HG03471.hp1
HG03491.hp1
HG03579.hp1
HG03669.hp2
HG03704.hp1
HG03831.hp1
HG03834.hp2
HG03942.hp1
HG04115.hp2
HG04204.hp2
NA18522.hp2
NA18939.hp1
NA18943.hp1
NA18944.hp1
NA18947.hp1
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18950.hp1
NA18952.hp1
NA18953.hp2
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp2
NA18960.hp2
NA18962.hp2
NA18965.hp2
NA18966.hp1
NA18977.hp2
NA18978.hp2
NA18979.hp1
NA18981.hp2
NA18984.hp1
NA18986.hp1
NA18988.hp1
NA18991.hp1
NA18991.hp2
NA18992.hp2
NA18998.hp1
NA18999.hp2
NA19001.hp2
NA19004.hp1
NA19007.hp2
NA19010.hp1
NA19011.hp1
NA19055.hp1
NA19063.hp2
NA19064.hp1
NA19067.hp1
NA19068.hp1
NA19081.hp2
NA19082.hp1
NA19084.hp1
NA19087.hp1
NA19088.hp2
NA20129.hp2
NA20752.hp1
NA20905.hp2
 3_prime_UTR_variant MODIFIER c.*1103C>T
c.*1103C>T
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 14/14 1103 chr8 18056431
chr8:18056461 G
G
 A
A
 35 a0001c0001t0002
a0001c0001t0003
a0001c0001t0004
others(32): Show 
a0001c0001t0002
a0001c0001t0003
a0001c0001t0004
a0001c0001t0006
a0001c0001t0007
a0001c0001t0013
a0001c0001t0014
a0001c0001t0020
a0001c0001t0022
a0001c0008t0006
a0002c0002t0002
a0002c0002t0003
a0002c0002t0004
a0002c0002t0005
a0002c0002t0006
a0002c0002t0018
a0002c0002t0019
a0002c0002t0025
a0002c0002t0027
a0002c0002t0028
a0002c0002t0029
a0002c0002t0030
a0002c0002t0033
a0003c0003t0002
a0003c0003t0005
a0003c0003t0008
a0003c0003t0009
a0003c0003t0010
a0003c0003t0013
a0003c0003t0017
a0003c0003t0024
a0003c0003t0026
a0004c0004t0003
a0005c0005t0011
a0006c0006t0003
 277 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(274): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00323.hp1
HG00323.hp2
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00558.hp1
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00642.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01070.hp2
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01169.hp1
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01243.hp2
HG01255.hp2
HG01256.hp1
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01358.hp1
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01496.hp1
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp2
HG01943.hp2
HG01975.hp2
HG01978.hp1
HG02004.hp2
HG02027.hp2
HG02040.hp1
HG02056.hp2
HG02071.hp1
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02165.hp2
HG02257.hp1
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp2
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02523.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03492.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp2
HG03688.hp2
HG03704.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp2
NA18947.hp1
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18952.hp1
NA18953.hp2
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp2
NA18959.hp1
NA18960.hp2
NA18962.hp2
NA18963.hp1
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp2
NA18969.hp1
NA18969.hp2
NA18972.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18981.hp2
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18986.hp2
NA18988.hp1
NA18991.hp1
NA18991.hp2
NA18992.hp2
NA18993.hp1
NA18995.hp1
NA18995.hp2
NA18998.hp1
NA18999.hp1
NA18999.hp2
NA19001.hp2
NA19004.hp1
NA19004.hp2
NA19007.hp2
NA19010.hp1
NA19011.hp1
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19055.hp1
NA19056.hp1
NA19057.hp1
NA19058.hp1
NA19060.hp1
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19077.hp1
NA19081.hp2
NA19082.hp1
NA19082.hp2
NA19084.hp1
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19088.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20752.hp1
NA20805.hp1
NA20805.hp2
NA20905.hp2
NA21309.hp1
NA21309.hp2
 3_prime_UTR_variant MODIFIER c.*1073C>T
c.*1073C>T
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 14/14 1073 chr8 18056461
chr8:18056602 G
G
 A
A
 2 a0003c0003t0008
a0003c0003t0009
a0003c0003t0008
a0003c0003t0009
 17 HG01099.hp1
HG01884.hp1
HG02109.hp2
others(14): Show 
HG01099.hp1
HG01884.hp1
HG02109.hp2
HG02280.hp2
HG02647.hp2
HG02723.hp1
HG02818.hp1
HG02886.hp2
HG02896.hp1
HG02897.hp2
HG02976.hp1
HG03130.hp1
HG03453.hp2
HG03579.hp2
NA18906.hp1
NA19240.hp1
NA20129.hp1
 3_prime_UTR_variant MODIFIER c.*932C>T
c.*932C>T
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 14/14 932 chr8 18056602
chr8:18056608 T
T
 A
A
 1 a0001c0001t0012
a0001c0001t0012
 3 HG00423.hp1
NA18945.hp1
NA18947.hp2
HG00423.hp1
NA18945.hp1
NA18947.hp2
 3_prime_UTR_variant MODIFIER c.*926A>T
c.*926A>T
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 14/14 926 chr8 18056608
chr8:18056608 T
T
 G
G
 11 a0001c0001t0002
a0001c0001t0006
a0001c0001t0014
others(8): Show 
a0001c0001t0002
a0001c0001t0006
a0001c0001t0014
a0001c0001t0022
a0001c0008t0006
a0002c0002t0002
a0002c0002t0006
a0002c0002t0018
a0002c0002t0025
a0003c0003t0002
a0003c0003t0026
 111 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(108): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00323.hp1
HG00597.hp2
HG00621.hp2
HG00639.hp1
HG00642.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01070.hp2
HG01081.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01243.hp2
HG01255.hp2
HG01256.hp1
HG01257.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01361.hp2
HG01516.hp2
HG01517.hp1
HG01934.hp2
HG01978.hp1
HG02004.hp2
HG02027.hp2
HG02056.hp2
HG02071.hp1
HG02129.hp2
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02273.hp2
HG02300.hp2
HG02451.hp2
HG02486.hp1
HG02523.hp1
HG02572.hp1
HG02602.hp2
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02683.hp1
HG02735.hp1
HG02809.hp2
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03098.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03239.hp1
HG03486.hp1
HG03486.hp2
HG03492.hp2
HG03540.hp2
HG03688.hp2
HG03831.hp2
HG03927.hp1
HG03942.hp2
HG06807.hp2
NA18747.hp1
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18942.hp1
NA18959.hp1
NA18963.hp1
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18975.hp2
NA18977.hp1
NA18979.hp2
NA18984.hp2
NA18986.hp2
NA18993.hp1
NA18995.hp2
NA19054.hp1
NA19056.hp1
NA19058.hp1
NA19060.hp1
NA19060.hp2
NA19063.hp1
NA19064.hp2
NA19066.hp2
NA19067.hp2
NA19077.hp1
NA19082.hp2
NA19086.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
 3_prime_UTR_variant MODIFIER c.*926A>C
c.*926A>C
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 14/14 926 chr8 18056608
chr8:18056795 C
C
 T
T
 1 a0001c0001t0031
a0001c0001t0031
 1 NA18953.hp1
NA18953.hp1
 3_prime_UTR_variant MODIFIER c.*739G>A
c.*739G>A
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 14/14 739 chr8 18056795
chr8:18056796 G
G
 C
C
 17 a0001c0001t0003
a0001c0001t0004
a0001c0001t0007
others(14): Show 
a0001c0001t0003
a0001c0001t0004
a0001c0001t0007
a0001c0001t0020
a0001c0001t0021
a0001c0001t0022
a0002c0002t0003
a0002c0002t0004
a0002c0002t0019
a0002c0002t0027
a0002c0002t0028
a0002c0002t0029
a0002c0002t0033
a0003c0003t0008
a0003c0003t0009
a0004c0004t0003
a0006c0006t0003
 139 HG00323.hp2
HG00423.hp2
HG00438.hp1
others(136): Show 
HG00323.hp2
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00558.hp1
HG00597.hp1
HG00621.hp1
HG01099.hp1
HG01106.hp2
HG01167.hp1
HG01169.hp1
HG01257.hp2
HG01261.hp1
HG01358.hp1
HG01361.hp1
HG01433.hp1
HG01496.hp1
HG01884.hp1
HG01884.hp2
HG01943.hp2
HG01952.hp1
HG01975.hp2
HG02040.hp1
HG02083.hp1
HG02083.hp2
HG02109.hp2
HG02145.hp2
HG02148.hp1
HG02165.hp2
HG02257.hp1
HG02273.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp1
HG02559.hp2
HG02602.hp1
HG02615.hp1
HG02630.hp1
HG02647.hp2
HG02717.hp2
HG02723.hp1
HG02738.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp1
HG02897.hp2
HG02976.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03225.hp1
HG03239.hp2
HG03453.hp2
HG03471.hp1
HG03491.hp1
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03669.hp2
HG03704.hp1
HG03831.hp1
HG03834.hp2
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp1
NA18522.hp2
NA18612.hp1
NA18906.hp1
NA18939.hp1
NA18941.hp2
NA18943.hp1
NA18944.hp1
NA18945.hp2
NA18947.hp1
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18952.hp1
NA18953.hp2
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp2
NA18960.hp2
NA18962.hp2
NA18965.hp2
NA18966.hp1
NA18967.hp2
NA18972.hp1
NA18977.hp2
NA18978.hp2
NA18979.hp1
NA18981.hp2
NA18984.hp1
NA18986.hp1
NA18988.hp1
NA18991.hp1
NA18991.hp2
NA18992.hp2
NA18995.hp1
NA18998.hp1
NA18999.hp1
NA18999.hp2
NA19001.hp2
NA19004.hp1
NA19004.hp2
NA19007.hp2
NA19010.hp1
NA19011.hp1
NA19043.hp1
NA19054.hp2
NA19055.hp1
NA19057.hp1
NA19063.hp2
NA19064.hp1
NA19067.hp1
NA19068.hp1
NA19081.hp2
NA19082.hp1
NA19084.hp1
NA19086.hp1
NA19087.hp1
NA19088.hp2
NA19090.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20752.hp1
NA20905.hp2
 3_prime_UTR_variant MODIFIER c.*738C>G
c.*738C>G
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 14/14 738 chr8 18056796
chr8:18056805 A
A
 G
G
 17 a0001c0001t0003
a0001c0001t0004
a0001c0001t0007
others(14): Show 
a0001c0001t0003
a0001c0001t0004
a0001c0001t0007
a0001c0001t0020
a0001c0001t0021
a0001c0001t0022
a0002c0002t0003
a0002c0002t0004
a0002c0002t0019
a0002c0002t0027
a0002c0002t0028
a0002c0002t0029
a0002c0002t0033
a0003c0003t0008
a0003c0003t0009
a0004c0004t0003
a0006c0006t0003
 139 HG00323.hp2
HG00423.hp2
HG00438.hp1
others(136): Show 
HG00323.hp2
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00558.hp1
HG00597.hp1
HG00621.hp1
HG01099.hp1
HG01106.hp2
HG01167.hp1
HG01169.hp1
HG01257.hp2
HG01261.hp1
HG01358.hp1
HG01361.hp1
HG01433.hp1
HG01496.hp1
HG01884.hp1
HG01884.hp2
HG01943.hp2
HG01952.hp1
HG01975.hp2
HG02040.hp1
HG02083.hp1
HG02083.hp2
HG02109.hp2
HG02145.hp2
HG02148.hp1
HG02165.hp2
HG02257.hp1
HG02273.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp1
HG02559.hp2
HG02602.hp1
HG02615.hp1
HG02630.hp1
HG02647.hp2
HG02717.hp2
HG02723.hp1
HG02738.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp1
HG02897.hp2
HG02976.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03225.hp1
HG03239.hp2
HG03453.hp2
HG03471.hp1
HG03491.hp1
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03669.hp2
HG03704.hp1
HG03831.hp1
HG03834.hp2
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp1
NA18522.hp2
NA18612.hp1
NA18906.hp1
NA18939.hp1
NA18941.hp2
NA18943.hp1
NA18944.hp1
NA18945.hp2
NA18947.hp1
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18952.hp1
NA18953.hp2
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp2
NA18960.hp2
NA18962.hp2
NA18965.hp2
NA18966.hp1
NA18967.hp2
NA18972.hp1
NA18977.hp2
NA18978.hp2
NA18979.hp1
NA18981.hp2
NA18984.hp1
NA18986.hp1
NA18988.hp1
NA18991.hp1
NA18991.hp2
NA18992.hp2
NA18995.hp1
NA18998.hp1
NA18999.hp1
NA18999.hp2
NA19001.hp2
NA19004.hp1
NA19004.hp2
NA19007.hp2
NA19010.hp1
NA19011.hp1
NA19043.hp1
NA19054.hp2
NA19055.hp1
NA19057.hp1
NA19063.hp2
NA19064.hp1
NA19067.hp1
NA19068.hp1
NA19081.hp2
NA19082.hp1
NA19084.hp1
NA19086.hp1
NA19087.hp1
NA19088.hp2
NA19090.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20752.hp1
NA20905.hp2
 3_prime_UTR_variant MODIFIER c.*729T>C
c.*729T>C
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 14/14 729 chr8 18056805
chr8:18056822 ACTTC
ACTTC
 A
A
 17 a0001c0001t0003
a0001c0001t0004
a0001c0001t0007
others(14): Show 
a0001c0001t0003
a0001c0001t0004
a0001c0001t0007
a0001c0001t0020
a0001c0001t0021
a0001c0001t0022
a0002c0002t0003
a0002c0002t0004
a0002c0002t0019
a0002c0002t0027
a0002c0002t0028
a0002c0002t0029
a0002c0002t0033
a0003c0003t0008
a0003c0003t0009
a0004c0004t0003
a0006c0006t0003
 139 HG00323.hp2
HG00423.hp2
HG00438.hp1
others(136): Show 
HG00323.hp2
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00558.hp1
HG00597.hp1
HG00621.hp1
HG01099.hp1
HG01106.hp2
HG01167.hp1
HG01169.hp1
HG01257.hp2
HG01261.hp1
HG01358.hp1
HG01361.hp1
HG01433.hp1
HG01496.hp1
HG01884.hp1
HG01884.hp2
HG01943.hp2
HG01952.hp1
HG01975.hp2
HG02040.hp1
HG02083.hp1
HG02083.hp2
HG02109.hp2
HG02145.hp2
HG02148.hp1
HG02165.hp2
HG02257.hp1
HG02273.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp1
HG02559.hp2
HG02602.hp1
HG02615.hp1
HG02630.hp1
HG02647.hp2
HG02717.hp2
HG02723.hp1
HG02738.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp1
HG02897.hp2
HG02976.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03225.hp1
HG03239.hp2
HG03453.hp2
HG03471.hp1
HG03491.hp1
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03669.hp2
HG03704.hp1
HG03831.hp1
HG03834.hp2
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp1
NA18522.hp2
NA18612.hp1
NA18906.hp1
NA18939.hp1
NA18941.hp2
NA18943.hp1
NA18944.hp1
NA18945.hp2
NA18947.hp1
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18952.hp1
NA18953.hp2
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp2
NA18960.hp2
NA18962.hp2
NA18965.hp2
NA18966.hp1
NA18967.hp2
NA18972.hp1
NA18977.hp2
NA18978.hp2
NA18979.hp1
NA18981.hp2
NA18984.hp1
NA18986.hp1
NA18988.hp1
NA18991.hp1
NA18991.hp2
NA18992.hp2
NA18995.hp1
NA18998.hp1
NA18999.hp1
NA18999.hp2
NA19001.hp2
NA19004.hp1
NA19004.hp2
NA19007.hp2
NA19010.hp1
NA19011.hp1
NA19043.hp1
NA19054.hp2
NA19055.hp1
NA19057.hp1
NA19063.hp2
NA19064.hp1
NA19067.hp1
NA19068.hp1
NA19081.hp2
NA19082.hp1
NA19084.hp1
NA19086.hp1
NA19087.hp1
NA19088.hp2
NA19090.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20752.hp1
NA20905.hp2
 3_prime_UTR_variant MODIFIER c.*708_*711delGAAG
c.*708_*711delGAAG
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 14/14 708 chr8 18056822
chr8:18056839 G
G
 A
A
 6 a0001c0001t0004
a0001c0001t0007
a0001c0001t0020
others(3): Show 
a0001c0001t0004
a0001c0001t0007
a0001c0001t0020
a0001c0001t0021
a0001c0001t0022
a0002c0002t0004
 38 HG00323.hp2
HG00438.hp2
HG01167.hp1
others(35): Show 
HG00323.hp2
HG00438.hp2
HG01167.hp1
HG01169.hp1
HG01257.hp2
HG01261.hp1
HG01361.hp1
HG01433.hp1
HG01496.hp1
HG01884.hp2
HG01952.hp1
HG02083.hp1
HG02257.hp1
HG02273.hp1
HG02293.hp2
HG02300.hp1
HG02615.hp1
HG02630.hp1
HG03041.hp2
HG03195.hp1
HG03225.hp1
HG03540.hp1
HG04115.hp1
HG04204.hp1
HG06807.hp1
NA18612.hp1
NA18945.hp2
NA18949.hp2
NA18967.hp2
NA18972.hp1
NA18995.hp1
NA18999.hp1
NA19004.hp2
NA19043.hp1
NA19054.hp2
NA19057.hp1
NA19086.hp1
NA19090.hp2
 3_prime_UTR_variant MODIFIER c.*695C>T
c.*695C>T
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 14/14 695 chr8 18056839
chr8:18056847 G
G
 C
C
 16 a0001c0001t0003
a0001c0001t0004
a0001c0001t0007
others(13): Show 
a0001c0001t0003
a0001c0001t0004
a0001c0001t0007
a0001c0001t0020
a0001c0001t0021
a0001c0001t0022
a0002c0002t0003
a0002c0002t0004
a0002c0002t0019
a0002c0002t0028
a0002c0002t0029
a0002c0002t0033
a0003c0003t0008
a0003c0003t0009
a0004c0004t0003
a0006c0006t0003
 138 HG00323.hp2
HG00423.hp2
HG00438.hp1
others(135): Show 
HG00323.hp2
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00558.hp1
HG00597.hp1
HG00621.hp1
HG01099.hp1
HG01106.hp2
HG01167.hp1
HG01169.hp1
HG01257.hp2
HG01261.hp1
HG01358.hp1
HG01361.hp1
HG01433.hp1
HG01496.hp1
HG01884.hp1
HG01884.hp2
HG01943.hp2
HG01952.hp1
HG01975.hp2
HG02040.hp1
HG02083.hp1
HG02083.hp2
HG02109.hp2
HG02145.hp2
HG02148.hp1
HG02165.hp2
HG02257.hp1
HG02273.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp1
HG02559.hp2
HG02602.hp1
HG02615.hp1
HG02630.hp1
HG02647.hp2
HG02717.hp2
HG02723.hp1
HG02738.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp1
HG02897.hp2
HG02976.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03225.hp1
HG03453.hp2
HG03471.hp1
HG03491.hp1
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03669.hp2
HG03704.hp1
HG03831.hp1
HG03834.hp2
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp1
NA18522.hp2
NA18612.hp1
NA18906.hp1
NA18939.hp1
NA18941.hp2
NA18943.hp1
NA18944.hp1
NA18945.hp2
NA18947.hp1
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18952.hp1
NA18953.hp2
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp2
NA18960.hp2
NA18962.hp2
NA18965.hp2
NA18966.hp1
NA18967.hp2
NA18972.hp1
NA18977.hp2
NA18978.hp2
NA18979.hp1
NA18981.hp2
NA18984.hp1
NA18986.hp1
NA18988.hp1
NA18991.hp1
NA18991.hp2
NA18992.hp2
NA18995.hp1
NA18998.hp1
NA18999.hp1
NA18999.hp2
NA19001.hp2
NA19004.hp1
NA19004.hp2
NA19007.hp2
NA19010.hp1
NA19011.hp1
NA19043.hp1
NA19054.hp2
NA19055.hp1
NA19057.hp1
NA19063.hp2
NA19064.hp1
NA19067.hp1
NA19068.hp1
NA19081.hp2
NA19082.hp1
NA19084.hp1
NA19086.hp1
NA19087.hp1
NA19088.hp2
NA19090.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20752.hp1
NA20905.hp2
 3_prime_UTR_variant MODIFIER c.*687C>G
c.*687C>G
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 14/14 687 chr8 18056847
chr8:18057075 A
A
 G
G
 1 a0003c0003t0017
a0003c0003t0017
 1 HG03710.hp2
HG03710.hp2
 3_prime_UTR_variant MODIFIER c.*459T>C
c.*459T>C
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 14/14 459 chr8 18057075
chr8:18057166 G
G
 A
A
 1 a0002c0002t0030
a0002c0002t0030
 1 HG02572.hp2
HG02572.hp2
 3_prime_UTR_variant MODIFIER c.*368C>T
c.*368C>T
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 14/14 368 chr8 18057166
chr8:18057178 G
G
 C
C
 1 a0001c0001t0015
a0001c0001t0015
 2 NA18959.hp2
NA19090.hp1
NA18959.hp2
NA19090.hp1
 3_prime_UTR_variant MODIFIER c.*356C>G
c.*356C>G
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 14/14 356 chr8 18057178
chr8:18057200 C
C
 T
T
 2 a0001c0001t0007
a0001c0001t0020
a0001c0001t0007
a0001c0001t0020
 11 HG00323.hp2
HG01167.hp1
HG01169.hp1
others(8): Show 
HG00323.hp2
HG01167.hp1
HG01169.hp1
HG01261.hp1
HG01884.hp2
HG02083.hp1
HG02615.hp1
HG02630.hp1
HG03041.hp2
HG04115.hp1
HG04204.hp1
 3_prime_UTR_variant MODIFIER c.*334G>A
c.*334G>A
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 14/14 334 chr8 18057200
chr8:18057290 G
G
 A
A
 7 a0001c0001t0004
a0001c0001t0007
a0001c0001t0020
others(4): Show 
a0001c0001t0004
a0001c0001t0007
a0001c0001t0020
a0001c0001t0021
a0001c0001t0022
a0002c0002t0004
a0003c0003t0008
 47 HG00323.hp2
HG00438.hp2
HG01099.hp1
others(44): Show 
HG00323.hp2
HG00438.hp2
HG01099.hp1
HG01167.hp1
HG01169.hp1
HG01257.hp2
HG01261.hp1
HG01361.hp1
HG01433.hp1
HG01496.hp1
HG01884.hp1
HG01884.hp2
HG01952.hp1
HG02083.hp1
HG02257.hp1
HG02273.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp1
HG02615.hp1
HG02630.hp1
HG02886.hp2
HG02976.hp1
HG03041.hp2
HG03130.hp1
HG03195.hp1
HG03225.hp1
HG03540.hp1
HG03579.hp2
HG04115.hp1
HG04204.hp1
HG06807.hp1
NA18612.hp1
NA18906.hp1
NA18945.hp2
NA18949.hp2
NA18967.hp2
NA18972.hp1
NA18995.hp1
NA18999.hp1
NA19004.hp2
NA19043.hp1
NA19054.hp2
NA19057.hp1
NA19086.hp1
NA19090.hp2
NA20129.hp1
 3_prime_UTR_variant MODIFIER c.*244C>T
c.*244C>T
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 14/14 244 chr8 18057290
chr8:18057334 G
G
 A
A
 3 a0001c0001t0006
a0001c0008t0006
a0002c0002t0006
a0001c0001t0006
a0001c0008t0006
a0002c0002t0006
 12 HG00597.hp2
HG02683.hp1
HG02735.hp1
others(9): Show 
HG00597.hp2
HG02683.hp1
HG02735.hp1
HG03927.hp1
NA18939.hp2
NA18940.hp2
NA18977.hp1
NA18979.hp2
NA18986.hp2
NA18995.hp2
NA19060.hp2
NA19064.hp2
 3_prime_UTR_variant MODIFIER c.*200C>T
c.*200C>T
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 14/14 200 chr8 18057334
chr8:18057350 A
A
 T
T
 7 a0001c0001t0004
a0001c0001t0007
a0001c0001t0020
others(4): Show 
a0001c0001t0004
a0001c0001t0007
a0001c0001t0020
a0001c0001t0021
a0001c0001t0022
a0002c0002t0004
a0003c0003t0008
 47 HG00323.hp2
HG00438.hp2
HG01099.hp1
others(44): Show 
HG00323.hp2
HG00438.hp2
HG01099.hp1
HG01167.hp1
HG01169.hp1
HG01257.hp2
HG01261.hp1
HG01361.hp1
HG01433.hp1
HG01496.hp1
HG01884.hp1
HG01884.hp2
HG01952.hp1
HG02083.hp1
HG02257.hp1
HG02273.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp1
HG02615.hp1
HG02630.hp1
HG02886.hp2
HG02976.hp1
HG03041.hp2
HG03130.hp1
HG03195.hp1
HG03225.hp1
HG03540.hp1
HG03579.hp2
HG04115.hp1
HG04204.hp1
HG06807.hp1
NA18612.hp1
NA18906.hp1
NA18945.hp2
NA18949.hp2
NA18967.hp2
NA18972.hp1
NA18995.hp1
NA18999.hp1
NA19004.hp2
NA19043.hp1
NA19054.hp2
NA19057.hp1
NA19086.hp1
NA19090.hp2
NA20129.hp1
 3_prime_UTR_variant MODIFIER c.*184T>A
c.*184T>A
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 14/14 184 chr8 18057350
chr8:18057356 TAG
TAG
 T
T
 7 a0001c0001t0004
a0001c0001t0007
a0001c0001t0020
others(4): Show 
a0001c0001t0004
a0001c0001t0007
a0001c0001t0020
a0001c0001t0021
a0001c0001t0022
a0002c0002t0004
a0003c0003t0008
 47 HG00323.hp2
HG00438.hp2
HG01099.hp1
others(44): Show 
HG00323.hp2
HG00438.hp2
HG01099.hp1
HG01167.hp1
HG01169.hp1
HG01257.hp2
HG01261.hp1
HG01361.hp1
HG01433.hp1
HG01496.hp1
HG01884.hp1
HG01884.hp2
HG01952.hp1
HG02083.hp1
HG02257.hp1
HG02273.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp1
HG02615.hp1
HG02630.hp1
HG02886.hp2
HG02976.hp1
HG03041.hp2
HG03130.hp1
HG03195.hp1
HG03225.hp1
HG03540.hp1
HG03579.hp2
HG04115.hp1
HG04204.hp1
HG06807.hp1
NA18612.hp1
NA18906.hp1
NA18945.hp2
NA18949.hp2
NA18967.hp2
NA18972.hp1
NA18995.hp1
NA18999.hp1
NA19004.hp2
NA19043.hp1
NA19054.hp2
NA19057.hp1
NA19086.hp1
NA19090.hp2
NA20129.hp1
 3_prime_UTR_variant MODIFIER c.*176_*177delCT
c.*176_*177delCT
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 14/14 176 chr8 18057356
chr8:18057363 A
A
 G
G
 7 a0001c0001t0004
a0001c0001t0007
a0001c0001t0020
others(4): Show 
a0001c0001t0004
a0001c0001t0007
a0001c0001t0020
a0001c0001t0021
a0001c0001t0022
a0002c0002t0004
a0003c0003t0008
 47 HG00323.hp2
HG00438.hp2
HG01099.hp1
others(44): Show 
HG00323.hp2
HG00438.hp2
HG01099.hp1
HG01167.hp1
HG01169.hp1
HG01257.hp2
HG01261.hp1
HG01361.hp1
HG01433.hp1
HG01496.hp1
HG01884.hp1
HG01884.hp2
HG01952.hp1
HG02083.hp1
HG02257.hp1
HG02273.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp1
HG02615.hp1
HG02630.hp1
HG02886.hp2
HG02976.hp1
HG03041.hp2
HG03130.hp1
HG03195.hp1
HG03225.hp1
HG03540.hp1
HG03579.hp2
HG04115.hp1
HG04204.hp1
HG06807.hp1
NA18612.hp1
NA18906.hp1
NA18945.hp2
NA18949.hp2
NA18967.hp2
NA18972.hp1
NA18995.hp1
NA18999.hp1
NA19004.hp2
NA19043.hp1
NA19054.hp2
NA19057.hp1
NA19086.hp1
NA19090.hp2
NA20129.hp1
 3_prime_UTR_variant MODIFIER c.*171T>C
c.*171T>C
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 14/14 171 chr8 18057363
chr8:18057374 A
A
 G
G
 7 a0001c0001t0004
a0001c0001t0007
a0001c0001t0020
others(4): Show 
a0001c0001t0004
a0001c0001t0007
a0001c0001t0020
a0001c0001t0021
a0001c0001t0022
a0002c0002t0004
a0003c0003t0008
 47 HG00323.hp2
HG00438.hp2
HG01099.hp1
others(44): Show 
HG00323.hp2
HG00438.hp2
HG01099.hp1
HG01167.hp1
HG01169.hp1
HG01257.hp2
HG01261.hp1
HG01361.hp1
HG01433.hp1
HG01496.hp1
HG01884.hp1
HG01884.hp2
HG01952.hp1
HG02083.hp1
HG02257.hp1
HG02273.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp1
HG02615.hp1
HG02630.hp1
HG02886.hp2
HG02976.hp1
HG03041.hp2
HG03130.hp1
HG03195.hp1
HG03225.hp1
HG03540.hp1
HG03579.hp2
HG04115.hp1
HG04204.hp1
HG06807.hp1
NA18612.hp1
NA18906.hp1
NA18945.hp2
NA18949.hp2
NA18967.hp2
NA18972.hp1
NA18995.hp1
NA18999.hp1
NA19004.hp2
NA19043.hp1
NA19054.hp2
NA19057.hp1
NA19086.hp1
NA19090.hp2
NA20129.hp1
 3_prime_UTR_variant MODIFIER c.*160T>C
c.*160T>C
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 14/14 160 chr8 18057374
chr8:18057398 C
C
 T
T
 1 a0002c0002t0019
a0002c0002t0019
 1 NA18960.hp2
NA18960.hp2
 3_prime_UTR_variant MODIFIER c.*136G>A
c.*136G>A
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 14/14 136 chr8 18057398
chr8:18057410 A
A
 T
T
 28 a0001c0001t0003
a0001c0001t0004
a0001c0001t0007
others(25): Show 
a0001c0001t0003
a0001c0001t0004
a0001c0001t0007
a0001c0001t0013
a0001c0001t0020
a0001c0001t0021
a0001c0001t0022
a0001c0007t0023
a0002c0002t0003
a0002c0002t0004
a0002c0002t0005
a0002c0002t0018
a0002c0002t0019
a0002c0002t0025
a0002c0002t0027
a0002c0002t0028
a0002c0002t0029
a0002c0002t0030
a0003c0003t0005
a0003c0003t0008
a0003c0003t0010
a0003c0003t0013
a0003c0003t0017
a0003c0003t0024
a0003c0003t0026
a0004c0004t0003
a0005c0005t0011
a0006c0006t0003
 163 HG00323.hp2
HG00423.hp2
HG00438.hp1
others(160): Show 
HG00323.hp2
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00558.hp1
HG00597.hp1
HG00621.hp1
HG01099.hp1
HG01106.hp2
HG01167.hp1
HG01169.hp1
HG01257.hp2
HG01261.hp1
HG01358.hp1
HG01361.hp1
HG01433.hp1
HG01496.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01943.hp2
HG01952.hp1
HG01975.hp2
HG02040.hp1
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02145.hp2
HG02148.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp1
HG02451.hp1
HG02559.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02738.hp2
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03491.hp1
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp2
HG03704.hp1
HG03710.hp2
HG03831.hp1
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18941.hp2
NA18943.hp1
NA18944.hp1
NA18945.hp2
NA18947.hp1
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18952.hp1
NA18953.hp2
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp2
NA18960.hp2
NA18962.hp2
NA18965.hp2
NA18966.hp1
NA18967.hp2
NA18972.hp1
NA18977.hp2
NA18978.hp2
NA18979.hp1
NA18981.hp2
NA18984.hp1
NA18986.hp1
NA18988.hp1
NA18991.hp1
NA18991.hp2
NA18992.hp2
NA18995.hp1
NA18998.hp1
NA18999.hp1
NA18999.hp2
NA19001.hp2
NA19004.hp1
NA19004.hp2
NA19007.hp2
NA19010.hp1
NA19011.hp1
NA19043.hp1
NA19043.hp2
NA19054.hp2
NA19055.hp1
NA19057.hp1
NA19063.hp2
NA19064.hp1
NA19067.hp1
NA19068.hp1
NA19081.hp2
NA19082.hp1
NA19084.hp1
NA19086.hp1
NA19087.hp1
NA19088.hp2
NA19090.hp2
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20752.hp1
NA20905.hp2
NA21309.hp2
 3_prime_UTR_variant MODIFIER c.*124T>A
c.*124T>A
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 14/14 124 chr8 18057410
chr8:18057476 C
C
 T
T
 1 a0002c0002t0018
a0002c0002t0018
 1 HG03540.hp2
HG03540.hp2
 3_prime_UTR_variant MODIFIER c.*58G>A
c.*58G>A
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 14/14 58 chr8 18057476
chr8:18057509 C
C
 T
T
 1 a0003c0003t0017
a0003c0003t0017
 1 HG03710.hp2
HG03710.hp2
 3_prime_UTR_variant MODIFIER c.*25G>A
c.*25G>A
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 14/14 25 chr8 18057509
chr8:18057510 G
G
 A
A
 1 a0001c0001t0034
a0001c0001t0034
 1 NA19066.hp1
NA19066.hp1
 3_prime_UTR_variant MODIFIER c.*24C>T
c.*24C>T
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 14/14 24 chr8 18057510
chr8:18057528 G
G
 A
A
 1 a0001c0001t0016
a0001c0001t0016
 2 NA18975.hp1
NA19062.hp2
NA18975.hp1
NA19062.hp2
 3_prime_UTR_variant MODIFIER c.*6C>T
c.*6C>T
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 14/14 6 chr8 18057528
chr8:18084096 G
G
 A
A
 1 a0002c0002t0035
a0002c0002t0035
 1 NA19068.hp2
NA19068.hp2
 5_prime_UTR_premature_start_codon_gain_variant LOW c.-38C>T
c.-38C>T
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 1/14 chr8 18084096

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
chr8:18057681 T
T
 C
C
 1 a0001c0001t0002g0189
a0001c0001t0002g0189
 1 HG01261.hp2
HG01261.hp2
 intron_variant MODIFIER c.1099-58A>G
c.1099-58A>G
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 13/13 chr8 18057681
chr8:18057696 A
A
 G
G
 1 a0002c0002t0004g0112
a0002c0002t0004g0112
 1 NA19057.hp1
NA19057.hp1
 intron_variant MODIFIER c.1099-73T>C
c.1099-73T>C
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 13/13 chr8 18057696
chr8:18057744 C
C
 CTG
CTG
 67 a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0029
others(64): Show 
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0029
a0001c0001t0004g0065
a0001c0001t0004g0066
a0001c0001t0004g0067
a0001c0001t0004g0068
a0001c0001t0004g0069
a0001c0001t0004g0070
a0001c0001t0004g0071
a0001c0001t0004g0079
a0001c0001t0004g0080
a0001c0001t0004g0081
a0001c0001t0004g0083
a0001c0001t0004g0084
a0001c0001t0004g0089
a0001c0001t0004g0090
a0001c0001t0007g0058
a0001c0001t0007g0064
a0001c0001t0007g0073
a0001c0001t0007g0074
a0001c0001t0007g0075
a0001c0001t0007g0077
a0001c0001t0007g0078
a0001c0001t0007g0228
a0001c0001t0007g0229
a0001c0001t0007g0260
a0001c0001t0013g0281
a0001c0001t0020g0076
a0001c0001t0021g0057
a0001c0001t0022g0082
a0001c0007t0023g0279
a0002c0002t0018g0270
a0002c0002t0025g0054
a0002c0002t0030g0254
a0003c0003t0005g0024
a0003c0003t0005g0026
a0003c0003t0005g0056
a0003c0003t0005g0063
a0003c0003t0005g0168
a0003c0003t0005g0206
a0003c0003t0005g0263
a0003c0003t0005g0264
a0003c0003t0005g0265
a0003c0003t0005g0276
a0003c0003t0005g0277
a0003c0003t0008g0022
a0003c0003t0008g0030
a0003c0003t0008g0085
a0003c0003t0008g0086
a0003c0003t0008g0087
a0003c0003t0008g0088
a0003c0003t0009g0014
a0003c0003t0009g0062
a0003c0003t0009g0198
a0003c0003t0009g0199
a0003c0003t0009g0219
a0003c0003t0010g0052
a0003c0003t0010g0164
a0003c0003t0010g0283
a0003c0003t0013g0271
a0003c0003t0017g0272
a0003c0003t0024g0282
a0003c0003t0026g0268
a0005c0005t0011g0046
a0005c0005t0011g0211
a0005c0005t0011g0212
 86 HG00323.hp2
HG00438.hp2
HG01099.hp1
others(83): Show 
HG00323.hp2
HG00438.hp2
HG01099.hp1
HG01167.hp1
HG01169.hp1
HG01257.hp2
HG01261.hp1
HG01361.hp1
HG01433.hp1
HG01496.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp1
HG02451.hp1
HG02559.hp1
HG02572.hp2
HG02615.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02896.hp1
HG02897.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03225.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp2
HG03710.hp2
HG03834.hp1
HG04115.hp1
HG04204.hp1
HG04228.hp2
HG06807.hp1
NA18522.hp1
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18945.hp2
NA18949.hp2
NA18967.hp2
NA18972.hp1
NA18995.hp1
NA18999.hp1
NA19004.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp2
NA19086.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA21309.hp2
 intron_variant MODIFIER c.1099-122_1099-121i
others(4): Show 
c.1099-122_1099-121insCA
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 13/13 chr8 18057744
chr8:18057790 T
T
 C
C
 26 a0001c0001t0013g0281
a0001c0007t0023g0279
a0002c0002t0018g0270
others(23): Show 
a0001c0001t0013g0281
a0001c0007t0023g0279
a0002c0002t0018g0270
a0002c0002t0025g0054
a0002c0002t0030g0254
a0003c0003t0005g0024
a0003c0003t0005g0026
a0003c0003t0005g0056
a0003c0003t0005g0063
a0003c0003t0005g0168
a0003c0003t0005g0206
a0003c0003t0005g0263
a0003c0003t0005g0264
a0003c0003t0005g0265
a0003c0003t0005g0276
a0003c0003t0005g0277
a0003c0003t0010g0052
a0003c0003t0010g0164
a0003c0003t0010g0283
a0003c0003t0013g0271
a0003c0003t0017g0272
a0003c0003t0024g0282
a0003c0003t0026g0268
a0005c0005t0011g0046
a0005c0005t0011g0211
a0005c0005t0011g0212
 32 HG01891.hp1
HG01891.hp2
HG02109.hp1
others(29): Show 
HG01891.hp1
HG01891.hp2
HG02109.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02451.hp1
HG02559.hp1
HG02572.hp2
HG02622.hp2
HG02630.hp2
HG02647.hp1
HG02698.hp2
HG02717.hp1
HG02809.hp1
HG02818.hp2
HG02976.hp2
HG03017.hp1
HG03041.hp1
HG03139.hp1
HG03195.hp2
HG03453.hp1
HG03471.hp2
HG03540.hp2
HG03710.hp2
HG03834.hp1
HG04228.hp2
NA18522.hp1
NA18906.hp2
NA19043.hp2
NA19240.hp2
NA21309.hp2
 intron_variant MODIFIER c.1099-167A>G
c.1099-167A>G
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 13/13 chr8 18057790
chr8:18057832 A
A
 G
G
 26 a0001c0001t0013g0281
a0001c0007t0023g0279
a0002c0002t0018g0270
others(23): Show 
a0001c0001t0013g0281
a0001c0007t0023g0279
a0002c0002t0018g0270
a0002c0002t0025g0054
a0002c0002t0030g0254
a0003c0003t0005g0024
a0003c0003t0005g0026
a0003c0003t0005g0056
a0003c0003t0005g0063
a0003c0003t0005g0168
a0003c0003t0005g0206
a0003c0003t0005g0263
a0003c0003t0005g0264
a0003c0003t0005g0265
a0003c0003t0005g0276
a0003c0003t0005g0277
a0003c0003t0010g0052
a0003c0003t0010g0164
a0003c0003t0010g0283
a0003c0003t0013g0271
a0003c0003t0017g0272
a0003c0003t0024g0282
a0003c0003t0026g0268
a0005c0005t0011g0046
a0005c0005t0011g0211
a0005c0005t0011g0212
 32 HG01891.hp1
HG01891.hp2
HG02109.hp1
others(29): Show 
HG01891.hp1
HG01891.hp2
HG02109.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02451.hp1
HG02559.hp1
HG02572.hp2
HG02622.hp2
HG02630.hp2
HG02647.hp1
HG02698.hp2
HG02717.hp1
HG02809.hp1
HG02818.hp2
HG02976.hp2
HG03017.hp1
HG03041.hp1
HG03139.hp1
HG03195.hp2
HG03453.hp1
HG03471.hp2
HG03540.hp2
HG03710.hp2
HG03834.hp1
HG04228.hp2
NA18522.hp1
NA18906.hp2
NA19043.hp2
NA19240.hp2
NA21309.hp2
 intron_variant MODIFIER c.1099-209T>C
c.1099-209T>C
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 13/13 chr8 18057832
chr8:18057906 C
C
 T
T
 26 a0001c0001t0013g0281
a0001c0007t0023g0279
a0002c0002t0018g0270
others(23): Show 
a0001c0001t0013g0281
a0001c0007t0023g0279
a0002c0002t0018g0270
a0002c0002t0025g0054
a0002c0002t0030g0254
a0003c0003t0005g0024
a0003c0003t0005g0026
a0003c0003t0005g0056
a0003c0003t0005g0063
a0003c0003t0005g0168
a0003c0003t0005g0206
a0003c0003t0005g0263
a0003c0003t0005g0264
a0003c0003t0005g0265
a0003c0003t0005g0276
a0003c0003t0005g0277
a0003c0003t0010g0052
a0003c0003t0010g0164
a0003c0003t0010g0283
a0003c0003t0013g0271
a0003c0003t0017g0272
a0003c0003t0024g0282
a0003c0003t0026g0268
a0005c0005t0011g0046
a0005c0005t0011g0211
a0005c0005t0011g0212
 32 HG01891.hp1
HG01891.hp2
HG02109.hp1
others(29): Show 
HG01891.hp1
HG01891.hp2
HG02109.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02451.hp1
HG02559.hp1
HG02572.hp2
HG02622.hp2
HG02630.hp2
HG02647.hp1
HG02698.hp2
HG02717.hp1
HG02809.hp1
HG02818.hp2
HG02976.hp2
HG03017.hp1
HG03041.hp1
HG03139.hp1
HG03195.hp2
HG03453.hp1
HG03471.hp2
HG03540.hp2
HG03710.hp2
HG03834.hp1
HG04228.hp2
NA18522.hp1
NA18906.hp2
NA19043.hp2
NA19240.hp2
NA21309.hp2
 intron_variant MODIFIER c.1099-283G>A
c.1099-283G>A
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 13/13 chr8 18057906
chr8:18058010 C
C
 T
T
 2 a0002c0002t0002g0146
a0002c0002t0002g0196
a0002c0002t0002g0146
a0002c0002t0002g0196
 2 HG00280.hp1
HG03942.hp2
HG00280.hp1
HG03942.hp2
 intron_variant MODIFIER c.1099-387G>A
c.1099-387G>A
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 13/13 chr8 18058010
chr8:18058017 C
C
 T
T
 21 a0001c0007t0023g0279
a0002c0002t0018g0270
a0002c0002t0025g0054
others(18): Show 
a0001c0007t0023g0279
a0002c0002t0018g0270
a0002c0002t0025g0054
a0002c0002t0030g0254
a0003c0003t0005g0024
a0003c0003t0005g0026
a0003c0003t0005g0056
a0003c0003t0005g0063
a0003c0003t0005g0168
a0003c0003t0005g0206
a0003c0003t0005g0263
a0003c0003t0005g0264
a0003c0003t0005g0265
a0003c0003t0005g0276
a0003c0003t0005g0277
a0003c0003t0010g0052
a0003c0003t0010g0164
a0003c0003t0010g0283
a0003c0003t0013g0271
a0003c0003t0024g0282
a0003c0003t0026g0268
 26 HG01891.hp1
HG01891.hp2
HG02109.hp1
others(23): Show 
HG01891.hp1
HG01891.hp2
HG02109.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02451.hp1
HG02559.hp1
HG02572.hp2
HG02622.hp2
HG02630.hp2
HG02647.hp1
HG02717.hp1
HG02809.hp1
HG02818.hp2
HG03041.hp1
HG03139.hp1
HG03195.hp2
HG03453.hp1
HG03471.hp2
HG03540.hp2
NA18522.hp1
NA18906.hp2
NA19043.hp2
NA19240.hp2
NA21309.hp2
 intron_variant MODIFIER c.1099-394G>A
c.1099-394G>A
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 13/13 chr8 18058017
chr8:18058041 T
T
 C
C
 3 a0002c0002t0003g0059
a0002c0002t0003g0060
a0002c0002t0003g0061
a0002c0002t0003g0059
a0002c0002t0003g0060
a0002c0002t0003g0061
 3 HG03098.hp1
HG03471.hp1
NA20129.hp2
HG03098.hp1
HG03471.hp1
NA20129.hp2
 intron_variant MODIFIER c.1099-418A>G
c.1099-418A>G
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 13/13 chr8 18058041
chr8:18058048 T
T
 C
C
 1 a0002c0002t0003g0275
a0002c0002t0003g0275
 1 HG02895.hp1
HG02895.hp1
 intron_variant MODIFIER c.1099-425A>G
c.1099-425A>G
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 13/13 chr8 18058048
chr8:18058089 C
C
 T
T
 1 a0002c0002t0003g0096
a0002c0002t0003g0096
 1 HG01943.hp2
HG01943.hp2
 intron_variant MODIFIER c.1099-466G>A
c.1099-466G>A
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 13/13 chr8 18058089
chr8:18058111 C
C
 A
A
 109 a0001c0001t0003g0159
a0001c0001t0004g0010
a0001c0001t0004g0011
others(106): Show 
a0001c0001t0003g0159
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0029
a0001c0001t0004g0065
a0001c0001t0004g0066
a0001c0001t0004g0067
a0001c0001t0004g0068
a0001c0001t0004g0069
a0001c0001t0004g0070
a0001c0001t0004g0071
a0001c0001t0004g0079
a0001c0001t0004g0080
a0001c0001t0004g0081
a0001c0001t0004g0083
a0001c0001t0004g0084
a0001c0001t0004g0089
a0001c0001t0004g0090
a0001c0001t0007g0058
a0001c0001t0007g0064
a0001c0001t0007g0073
a0001c0001t0007g0074
a0001c0001t0007g0075
a0001c0001t0007g0077
a0001c0001t0007g0078
a0001c0001t0007g0228
a0001c0001t0007g0229
a0001c0001t0007g0260
a0001c0001t0020g0076
a0001c0001t0021g0057
a0001c0001t0022g0082
a0002c0002t0003g0004
a0002c0002t0003g0006
a0002c0002t0003g0025
a0002c0002t0003g0031
a0002c0002t0003g0048
a0002c0002t0003g0049
a0002c0002t0003g0059
a0002c0002t0003g0060
a0002c0002t0003g0061
a0002c0002t0003g0091
a0002c0002t0003g0095
a0002c0002t0003g0096
a0002c0002t0003g0097
a0002c0002t0003g0098
a0002c0002t0003g0101
a0002c0002t0003g0103
a0002c0002t0003g0105
a0002c0002t0003g0106
a0002c0002t0003g0108
a0002c0002t0003g0109
a0002c0002t0003g0110
a0002c0002t0003g0111
a0002c0002t0003g0113
a0002c0002t0003g0115
a0002c0002t0003g0116
a0002c0002t0003g0118
a0002c0002t0003g0134
a0002c0002t0003g0160
a0002c0002t0003g0210
a0002c0002t0003g0232
a0002c0002t0003g0233
a0002c0002t0003g0236
a0002c0002t0003g0237
a0002c0002t0003g0238
a0002c0002t0003g0239
a0002c0002t0003g0244
a0002c0002t0003g0245
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0248
a0002c0002t0003g0250
a0002c0002t0003g0252
a0002c0002t0003g0253
a0002c0002t0003g0255
a0002c0002t0003g0266
a0002c0002t0003g0267
a0002c0002t0003g0273
a0002c0002t0003g0274
a0002c0002t0003g0275
a0002c0002t0004g0112
a0002c0002t0005g0241
a0002c0002t0019g0243
a0002c0002t0027g0242
a0002c0002t0028g0249
a0002c0002t0029g0107
a0002c0002t0030g0254
a0003c0003t0005g0024
a0003c0003t0005g0026
a0003c0003t0005g0056
a0003c0003t0005g0063
a0003c0003t0005g0168
a0003c0003t0005g0206
a0003c0003t0005g0263
a0003c0003t0005g0264
a0003c0003t0005g0265
a0003c0003t0005g0276
a0003c0003t0005g0277
a0003c0003t0010g0052
a0003c0003t0010g0164
a0003c0003t0010g0283
a0003c0003t0013g0271
a0003c0003t0024g0282
a0003c0003t0026g0268
a0004c0004t0003g0007
a0004c0004t0003g0114
a0006c0006t0003g0023
a0006c0006t0003g0130
a0006c0006t0003g0234
 145 HG00323.hp2
HG00423.hp2
HG00438.hp1
others(142): Show 
HG00323.hp2
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00558.hp1
HG00597.hp1
HG00621.hp1
HG01106.hp2
HG01167.hp1
HG01169.hp1
HG01257.hp2
HG01261.hp1
HG01358.hp1
HG01361.hp1
HG01433.hp1
HG01496.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01943.hp2
HG01952.hp1
HG01975.hp2
HG02040.hp1
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02145.hp2
HG02148.hp1
HG02165.hp2
HG02257.hp1
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02293.hp2
HG02300.hp1
HG02451.hp1
HG02559.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02717.hp1
HG02717.hp2
HG02738.hp2
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03491.hp1
HG03540.hp1
HG03579.hp1
HG03669.hp2
HG03704.hp1
HG03831.hp1
HG03834.hp2
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18906.hp2
NA18939.hp1
NA18941.hp2
NA18943.hp1
NA18944.hp1
NA18945.hp2
NA18947.hp1
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18952.hp1
NA18953.hp2
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp2
NA18960.hp2
NA18962.hp2
NA18965.hp2
NA18966.hp1
NA18967.hp2
NA18972.hp1
NA18977.hp2
NA18978.hp2
NA18979.hp1
NA18981.hp2
NA18984.hp1
NA18986.hp1
NA18988.hp1
NA18991.hp1
NA18991.hp2
NA18992.hp2
NA18995.hp1
NA18998.hp1
NA18999.hp1
NA18999.hp2
NA19001.hp2
NA19004.hp1
NA19004.hp2
NA19007.hp2
NA19010.hp1
NA19011.hp1
NA19043.hp1
NA19043.hp2
NA19054.hp2
NA19055.hp1
NA19057.hp1
NA19063.hp2
NA19064.hp1
NA19067.hp1
NA19068.hp1
NA19081.hp2
NA19082.hp1
NA19084.hp1
NA19086.hp1
NA19087.hp1
NA19088.hp2
NA19090.hp2
NA19240.hp2
NA20129.hp2
NA20752.hp1
NA20905.hp2
 intron_variant MODIFIER c.1099-488G>T
c.1099-488G>T
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 13/13 chr8 18058111
chr8:18058112 A
A
 C
C
 109 a0001c0001t0003g0159
a0001c0001t0004g0010
a0001c0001t0004g0011
others(106): Show 
a0001c0001t0003g0159
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0029
a0001c0001t0004g0065
a0001c0001t0004g0066
a0001c0001t0004g0067
a0001c0001t0004g0068
a0001c0001t0004g0069
a0001c0001t0004g0070
a0001c0001t0004g0071
a0001c0001t0004g0079
a0001c0001t0004g0080
a0001c0001t0004g0081
a0001c0001t0004g0083
a0001c0001t0004g0084
a0001c0001t0004g0089
a0001c0001t0004g0090
a0001c0001t0007g0058
a0001c0001t0007g0064
a0001c0001t0007g0073
a0001c0001t0007g0074
a0001c0001t0007g0075
a0001c0001t0007g0077
a0001c0001t0007g0078
a0001c0001t0007g0228
a0001c0001t0007g0229
a0001c0001t0007g0260
a0001c0001t0020g0076
a0001c0001t0021g0057
a0001c0001t0022g0082
a0002c0002t0003g0004
a0002c0002t0003g0006
a0002c0002t0003g0025
a0002c0002t0003g0031
a0002c0002t0003g0048
a0002c0002t0003g0049
a0002c0002t0003g0059
a0002c0002t0003g0060
a0002c0002t0003g0061
a0002c0002t0003g0091
a0002c0002t0003g0095
a0002c0002t0003g0096
a0002c0002t0003g0097
a0002c0002t0003g0098
a0002c0002t0003g0101
a0002c0002t0003g0103
a0002c0002t0003g0105
a0002c0002t0003g0106
a0002c0002t0003g0108
a0002c0002t0003g0109
a0002c0002t0003g0110
a0002c0002t0003g0111
a0002c0002t0003g0113
a0002c0002t0003g0115
a0002c0002t0003g0116
a0002c0002t0003g0118
a0002c0002t0003g0134
a0002c0002t0003g0160
a0002c0002t0003g0210
a0002c0002t0003g0232
a0002c0002t0003g0233
a0002c0002t0003g0236
a0002c0002t0003g0237
a0002c0002t0003g0238
a0002c0002t0003g0239
a0002c0002t0003g0244
a0002c0002t0003g0245
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0248
a0002c0002t0003g0250
a0002c0002t0003g0252
a0002c0002t0003g0253
a0002c0002t0003g0255
a0002c0002t0003g0266
a0002c0002t0003g0267
a0002c0002t0003g0273
a0002c0002t0003g0274
a0002c0002t0003g0275
a0002c0002t0004g0112
a0002c0002t0005g0241
a0002c0002t0019g0243
a0002c0002t0027g0242
a0002c0002t0028g0249
a0002c0002t0029g0107
a0002c0002t0030g0254
a0003c0003t0005g0024
a0003c0003t0005g0026
a0003c0003t0005g0056
a0003c0003t0005g0063
a0003c0003t0005g0168
a0003c0003t0005g0206
a0003c0003t0005g0263
a0003c0003t0005g0264
a0003c0003t0005g0265
a0003c0003t0005g0276
a0003c0003t0005g0277
a0003c0003t0010g0052
a0003c0003t0010g0164
a0003c0003t0010g0283
a0003c0003t0013g0271
a0003c0003t0024g0282
a0003c0003t0026g0268
a0004c0004t0003g0007
a0004c0004t0003g0114
a0006c0006t0003g0023
a0006c0006t0003g0130
a0006c0006t0003g0234
 145 HG00323.hp2
HG00423.hp2
HG00438.hp1
others(142): Show 
HG00323.hp2
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00558.hp1
HG00597.hp1
HG00621.hp1
HG01106.hp2
HG01167.hp1
HG01169.hp1
HG01257.hp2
HG01261.hp1
HG01358.hp1
HG01361.hp1
HG01433.hp1
HG01496.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01943.hp2
HG01952.hp1
HG01975.hp2
HG02040.hp1
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02145.hp2
HG02148.hp1
HG02165.hp2
HG02257.hp1
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02293.hp2
HG02300.hp1
HG02451.hp1
HG02559.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02717.hp1
HG02717.hp2
HG02738.hp2
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03491.hp1
HG03540.hp1
HG03579.hp1
HG03669.hp2
HG03704.hp1
HG03831.hp1
HG03834.hp2
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18906.hp2
NA18939.hp1
NA18941.hp2
NA18943.hp1
NA18944.hp1
NA18945.hp2
NA18947.hp1
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18952.hp1
NA18953.hp2
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp2
NA18960.hp2
NA18962.hp2
NA18965.hp2
NA18966.hp1
NA18967.hp2
NA18972.hp1
NA18977.hp2
NA18978.hp2
NA18979.hp1
NA18981.hp2
NA18984.hp1
NA18986.hp1
NA18988.hp1
NA18991.hp1
NA18991.hp2
NA18992.hp2
NA18995.hp1
NA18998.hp1
NA18999.hp1
NA18999.hp2
NA19001.hp2
NA19004.hp1
NA19004.hp2
NA19007.hp2
NA19010.hp1
NA19011.hp1
NA19043.hp1
NA19043.hp2
NA19054.hp2
NA19055.hp1
NA19057.hp1
NA19063.hp2
NA19064.hp1
NA19067.hp1
NA19068.hp1
NA19081.hp2
NA19082.hp1
NA19084.hp1
NA19086.hp1
NA19087.hp1
NA19088.hp2
NA19090.hp2
NA19240.hp2
NA20129.hp2
NA20752.hp1
NA20905.hp2
 intron_variant MODIFIER c.1099-489T>G
c.1099-489T>G
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 13/13 chr8 18058112
chr8:18058160 G
G
 C
C
 4 a0003c0003t0005g0026
a0003c0003t0005g0056
a0003c0003t0005g0168
others(1): Show 
a0003c0003t0005g0026
a0003c0003t0005g0056
a0003c0003t0005g0168
a0003c0003t0005g0206
 6 HG01891.hp2
HG02258.hp2
HG02630.hp2
others(3): Show 
HG01891.hp2
HG02258.hp2
HG02630.hp2
HG02809.hp1
HG02818.hp2
NA18522.hp1
 intron_variant MODIFIER c.1099-537C>G
c.1099-537C>G
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 13/13 chr8 18058160
chr8:18058269 C
C
 T
T
 2 a0002c0002t0018g0270
a0002c0002t0025g0054
a0002c0002t0018g0270
a0002c0002t0025g0054
 2 HG03540.hp2
NA21309.hp2
HG03540.hp2
NA21309.hp2
 intron_variant MODIFIER c.1098+566G>A
c.1098+566G>A
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 13/13 chr8 18058269
chr8:18058274 T
T
 C
C
 1 a0002c0002t0002g0028
a0002c0002t0002g0028
 2 HG03098.hp2
HG03486.hp1
HG03098.hp2
HG03486.hp1
 intron_variant MODIFIER c.1098+561A>G
c.1098+561A>G
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 13/13 chr8 18058274
chr8:18058330 A
A
 T
T
 133 a0001c0001t0003g0159
a0001c0001t0004g0010
a0001c0001t0004g0011
others(130): Show 
a0001c0001t0003g0159
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0029
a0001c0001t0004g0065
a0001c0001t0004g0066
a0001c0001t0004g0067
a0001c0001t0004g0068
a0001c0001t0004g0069
a0001c0001t0004g0070
a0001c0001t0004g0071
a0001c0001t0004g0079
a0001c0001t0004g0080
a0001c0001t0004g0081
a0001c0001t0004g0083
a0001c0001t0004g0084
a0001c0001t0004g0089
a0001c0001t0004g0090
a0001c0001t0007g0058
a0001c0001t0007g0064
a0001c0001t0007g0073
a0001c0001t0007g0074
a0001c0001t0007g0075
a0001c0001t0007g0077
a0001c0001t0007g0078
a0001c0001t0007g0228
a0001c0001t0007g0229
a0001c0001t0007g0260
a0001c0001t0013g0281
a0001c0001t0020g0076
a0001c0001t0021g0057
a0001c0001t0022g0082
a0001c0007t0023g0279
a0002c0002t0002g0099
a0002c0002t0002g0100
a0002c0002t0003g0004
a0002c0002t0003g0006
a0002c0002t0003g0025
a0002c0002t0003g0031
a0002c0002t0003g0048
a0002c0002t0003g0049
a0002c0002t0003g0059
a0002c0002t0003g0060
a0002c0002t0003g0061
a0002c0002t0003g0091
a0002c0002t0003g0095
a0002c0002t0003g0096
a0002c0002t0003g0097
a0002c0002t0003g0098
a0002c0002t0003g0101
a0002c0002t0003g0103
a0002c0002t0003g0105
a0002c0002t0003g0106
a0002c0002t0003g0108
a0002c0002t0003g0109
a0002c0002t0003g0110
a0002c0002t0003g0111
a0002c0002t0003g0113
a0002c0002t0003g0115
a0002c0002t0003g0116
a0002c0002t0003g0118
a0002c0002t0003g0134
a0002c0002t0003g0160
a0002c0002t0003g0210
a0002c0002t0003g0232
a0002c0002t0003g0233
a0002c0002t0003g0236
a0002c0002t0003g0237
a0002c0002t0003g0238
a0002c0002t0003g0239
a0002c0002t0003g0244
a0002c0002t0003g0245
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0248
a0002c0002t0003g0250
a0002c0002t0003g0252
a0002c0002t0003g0253
a0002c0002t0003g0255
a0002c0002t0003g0266
a0002c0002t0003g0267
a0002c0002t0003g0273
a0002c0002t0003g0274
a0002c0002t0003g0275
a0002c0002t0004g0112
a0002c0002t0005g0241
a0002c0002t0018g0270
a0002c0002t0019g0243
a0002c0002t0025g0054
a0002c0002t0027g0242
a0002c0002t0028g0249
a0002c0002t0029g0107
a0002c0002t0030g0254
a0003c0003t0001g0051
a0003c0003t0001g0269
a0003c0003t0002g0223
a0003c0003t0005g0024
a0003c0003t0005g0026
a0003c0003t0005g0056
a0003c0003t0005g0063
a0003c0003t0005g0168
a0003c0003t0005g0206
a0003c0003t0005g0263
a0003c0003t0005g0264
a0003c0003t0005g0265
a0003c0003t0005g0276
a0003c0003t0005g0277
a0003c0003t0008g0022
a0003c0003t0008g0030
a0003c0003t0008g0085
a0003c0003t0008g0086
a0003c0003t0008g0087
a0003c0003t0008g0088
a0003c0003t0009g0014
a0003c0003t0009g0062
a0003c0003t0009g0198
a0003c0003t0009g0199
a0003c0003t0009g0219
a0003c0003t0010g0052
a0003c0003t0010g0164
a0003c0003t0010g0283
a0003c0003t0013g0271
a0003c0003t0017g0272
a0003c0003t0024g0282
a0003c0003t0026g0268
a0004c0004t0003g0007
a0004c0004t0003g0114
a0005c0005t0011g0046
a0005c0005t0011g0211
a0005c0005t0011g0212
a0006c0006t0003g0023
a0006c0006t0003g0130
a0006c0006t0003g0234
 177 HG00323.hp2
HG00423.hp2
HG00438.hp1
others(174): Show 
HG00323.hp2
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00558.hp1
HG00597.hp1
HG00621.hp1
HG01099.hp1
HG01106.hp2
HG01167.hp1
HG01169.hp1
HG01257.hp2
HG01261.hp1
HG01358.hp1
HG01361.hp1
HG01433.hp1
HG01496.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01943.hp2
HG01952.hp1
HG01975.hp2
HG02040.hp1
HG02056.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02145.hp2
HG02148.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp1
HG02451.hp1
HG02559.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp1
HG02897.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03491.hp1
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp2
HG03704.hp1
HG03710.hp2
HG03831.hp1
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18941.hp2
NA18943.hp1
NA18944.hp1
NA18945.hp2
NA18947.hp1
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18952.hp1
NA18953.hp2
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp2
NA18960.hp2
NA18962.hp2
NA18965.hp2
NA18966.hp1
NA18967.hp2
NA18969.hp2
NA18972.hp1
NA18977.hp2
NA18978.hp2
NA18979.hp1
NA18981.hp2
NA18984.hp1
NA18986.hp1
NA18988.hp1
NA18991.hp1
NA18991.hp2
NA18992.hp2
NA18995.hp1
NA18998.hp1
NA18999.hp1
NA18999.hp2
NA19001.hp2
NA19004.hp1
NA19004.hp2
NA19007.hp2
NA19010.hp1
NA19011.hp1
NA19043.hp1
NA19043.hp2
NA19054.hp2
NA19055.hp1
NA19057.hp1
NA19063.hp2
NA19064.hp1
NA19067.hp1
NA19068.hp1
NA19081.hp2
NA19082.hp1
NA19084.hp1
NA19086.hp1
NA19087.hp1
NA19088.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20752.hp1
NA20905.hp2
NA21309.hp2
 intron_variant MODIFIER c.1098+505T>A
c.1098+505T>A
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 13/13 chr8 18058330
chr8:18058387 G
G
 A
A
 2 a0001c0001t0002g0042
a0001c0001t0002g0201
a0001c0001t0002g0042
a0001c0001t0002g0201
 3 HG00639.hp1
HG01934.hp2
HG02451.hp2
HG00639.hp1
HG01934.hp2
HG02451.hp2
 intron_variant MODIFIER c.1098+448C>T
c.1098+448C>T
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 13/13 chr8 18058387
chr8:18058413 A
A
 G
G
 1 a0001c0001t0013g0281
a0001c0001t0013g0281
 1 HG02976.hp2
HG02976.hp2
 intron_variant MODIFIER c.1098+422T>C
c.1098+422T>C
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 13/13 chr8 18058413
chr8:18058419 C
C
 T
T
 35 a0001c0007t0023g0279
a0002c0002t0018g0270
a0002c0002t0025g0054
others(32): Show 
a0001c0007t0023g0279
a0002c0002t0018g0270
a0002c0002t0025g0054
a0003c0003t0001g0051
a0003c0003t0001g0269
a0003c0003t0002g0223
a0003c0003t0005g0024
a0003c0003t0005g0026
a0003c0003t0005g0056
a0003c0003t0005g0063
a0003c0003t0005g0168
a0003c0003t0005g0206
a0003c0003t0005g0263
a0003c0003t0005g0264
a0003c0003t0005g0265
a0003c0003t0005g0276
a0003c0003t0005g0277
a0003c0003t0008g0022
a0003c0003t0008g0030
a0003c0003t0008g0085
a0003c0003t0008g0086
a0003c0003t0008g0087
a0003c0003t0008g0088
a0003c0003t0009g0014
a0003c0003t0009g0062
a0003c0003t0009g0198
a0003c0003t0009g0199
a0003c0003t0009g0219
a0003c0003t0010g0052
a0003c0003t0010g0164
a0003c0003t0010g0283
a0003c0003t0013g0271
a0003c0003t0017g0272
a0003c0003t0024g0282
a0003c0003t0026g0268
 47 HG01099.hp1
HG01884.hp1
HG01891.hp1
others(44): Show 
HG01099.hp1
HG01884.hp1
HG01891.hp1
HG01891.hp2
HG02109.hp1
HG02109.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp2
HG02451.hp1
HG02559.hp1
HG02622.hp2
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02717.hp1
HG02723.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02896.hp1
HG02897.hp2
HG02976.hp1
HG03041.hp1
HG03130.hp1
HG03139.hp1
HG03195.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03540.hp2
HG03579.hp2
HG03710.hp2
HG04228.hp1
NA18522.hp1
NA18906.hp1
NA18906.hp2
NA19043.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA21309.hp2
 intron_variant MODIFIER c.1098+416G>A
c.1098+416G>A
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 13/13 chr8 18058419
chr8:18058466 C
C
 G
G
 238 a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0009
others(235): Show 
a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0072
a0001c0001t0001g0102
a0001c0001t0001g0104
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0153
a0001c0001t0001g0158
a0001c0001t0001g0161
a0001c0001t0001g0167
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0187
a0001c0001t0001g0190
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0214
a0001c0001t0001g0226
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0001t0001g0256
a0001c0001t0001g0257
a0001c0001t0001g0259
a0001c0001t0001g0261
a0001c0001t0001g0278
a0001c0001t0001g0284
a0001c0001t0002g0042
a0001c0001t0002g0165
a0001c0001t0002g0166
a0001c0001t0002g0173
a0001c0001t0002g0188
a0001c0001t0002g0189
a0001c0001t0002g0191
a0001c0001t0002g0195
a0001c0001t0002g0200
a0001c0001t0002g0201
a0001c0001t0002g0216
a0001c0001t0002g0220
a0001c0001t0002g0235
a0001c0001t0002g0251
a0001c0001t0003g0159
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0029
a0001c0001t0004g0065
a0001c0001t0004g0066
a0001c0001t0004g0067
a0001c0001t0004g0068
a0001c0001t0004g0069
a0001c0001t0004g0070
a0001c0001t0004g0071
a0001c0001t0004g0079
a0001c0001t0004g0080
a0001c0001t0004g0081
a0001c0001t0004g0083
a0001c0001t0004g0084
a0001c0001t0004g0089
a0001c0001t0004g0090
a0001c0001t0006g0047
a0001c0001t0006g0154
a0001c0001t0006g0215
a0001c0001t0006g0217
a0001c0001t0006g0221
a0001c0001t0006g0222
a0001c0001t0006g0224
a0001c0001t0006g0225
a0001c0001t0006g0227
a0001c0001t0007g0058
a0001c0001t0007g0064
a0001c0001t0007g0073
a0001c0001t0007g0074
a0001c0001t0007g0075
a0001c0001t0007g0077
a0001c0001t0007g0078
a0001c0001t0007g0228
a0001c0001t0007g0229
a0001c0001t0007g0260
a0001c0001t0012g0050
a0001c0001t0012g0262
a0001c0001t0013g0281
a0001c0001t0014g0027
a0001c0001t0015g0162
a0001c0001t0015g0181
a0001c0001t0016g0043
a0001c0001t0020g0076
a0001c0001t0021g0057
a0001c0001t0022g0082
a0001c0001t0031g0117
a0001c0001t0032g0176
a0001c0001t0034g0186
a0001c0008t0006g0218
a0001c0009t0001g0094
a0002c0002t0001g0013
a0002c0002t0001g0032
a0002c0002t0001g0136
a0002c0002t0001g0150
a0002c0002t0002g0001
a0002c0002t0002g0008
a0002c0002t0002g0017
a0002c0002t0002g0018
a0002c0002t0002g0021
a0002c0002t0002g0028
a0002c0002t0002g0034
a0002c0002t0002g0035
a0002c0002t0002g0036
a0002c0002t0002g0037
a0002c0002t0002g0038
a0002c0002t0002g0039
a0002c0002t0002g0055
a0002c0002t0002g0092
a0002c0002t0002g0093
a0002c0002t0002g0099
a0002c0002t0002g0100
a0002c0002t0002g0120
a0002c0002t0002g0131
a0002c0002t0002g0132
a0002c0002t0002g0133
a0002c0002t0002g0135
a0002c0002t0002g0137
a0002c0002t0002g0138
a0002c0002t0002g0139
a0002c0002t0002g0140
a0002c0002t0002g0141
a0002c0002t0002g0142
a0002c0002t0002g0143
a0002c0002t0002g0144
a0002c0002t0002g0145
a0002c0002t0002g0146
a0002c0002t0002g0148
a0002c0002t0002g0149
a0002c0002t0002g0151
a0002c0002t0002g0152
a0002c0002t0002g0155
a0002c0002t0002g0156
a0002c0002t0002g0157
a0002c0002t0002g0196
a0002c0002t0002g0209
a0002c0002t0002g0240
a0002c0002t0002g0258
a0002c0002t0002g0285
a0002c0002t0003g0004
a0002c0002t0003g0006
a0002c0002t0003g0025
a0002c0002t0003g0031
a0002c0002t0003g0048
a0002c0002t0003g0049
a0002c0002t0003g0059
a0002c0002t0003g0060
a0002c0002t0003g0061
a0002c0002t0003g0091
a0002c0002t0003g0095
a0002c0002t0003g0096
a0002c0002t0003g0097
a0002c0002t0003g0098
a0002c0002t0003g0101
a0002c0002t0003g0103
a0002c0002t0003g0105
a0002c0002t0003g0106
a0002c0002t0003g0108
a0002c0002t0003g0109
a0002c0002t0003g0110
a0002c0002t0003g0111
a0002c0002t0003g0113
a0002c0002t0003g0115
a0002c0002t0003g0116
a0002c0002t0003g0118
a0002c0002t0003g0134
a0002c0002t0003g0160
a0002c0002t0003g0210
a0002c0002t0003g0232
a0002c0002t0003g0233
a0002c0002t0003g0236
a0002c0002t0003g0237
a0002c0002t0003g0238
a0002c0002t0003g0239
a0002c0002t0003g0244
a0002c0002t0003g0245
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0248
a0002c0002t0003g0250
a0002c0002t0003g0252
a0002c0002t0003g0253
a0002c0002t0003g0255
a0002c0002t0003g0266
a0002c0002t0003g0267
a0002c0002t0003g0273
a0002c0002t0003g0274
a0002c0002t0003g0275
a0002c0002t0004g0112
a0002c0002t0005g0241
a0002c0002t0006g0147
a0002c0002t0019g0243
a0002c0002t0027g0242
a0002c0002t0028g0249
a0002c0002t0029g0107
a0002c0002t0030g0254
a0002c0002t0033g0053
a0002c0002t0035g0286
a0004c0004t0003g0007
a0004c0004t0003g0114
a0005c0005t0001g0213
a0005c0005t0011g0046
a0005c0005t0011g0211
a0005c0005t0011g0212
a0006c0006t0003g0023
a0006c0006t0003g0130
a0006c0006t0003g0234
 350 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(347): 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
HG00558.hp1
HG00597.hp1
HG00597.hp2
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02738.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03540.hp1
HG03579.hp1
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp2
NA18612.hp1
NA18747.hp1
NA18747.hp2
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp1
NA18956.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp2
NA18983.hp1
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18986.hp2
NA18988.hp1
NA18991.hp1
NA18991.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18995.hp1
NA18995.hp2
NA18997.hp1
NA18997.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19001.hp1
NA19001.hp2
NA19004.hp1
NA19004.hp2
NA19006.hp2
NA19007.hp2
NA19010.hp1
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19054.hp1
NA19054.hp2
NA19055.hp1
NA19055.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19057.hp2
NA19058.hp1
NA19058.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19076.hp2
NA19077.hp1
NA19077.hp2
NA19081.hp1
NA19081.hp2
NA19082.hp1
NA19082.hp2
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1098+369G>C
c.1098+369G>C
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 13/13 chr8 18058466
chr8:18058484 G
G
 A
A
 1 a0001c0001t0001g0102
a0001c0001t0001g0102
 1 HG01981.hp2
HG01981.hp2
 intron_variant MODIFIER c.1098+351C>T
c.1098+351C>T
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 13/13 chr8 18058484
chr8:18058715 A
A
 C
C
 146 a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0009
others(143): Show 
a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0072
a0001c0001t0001g0102
a0001c0001t0001g0104
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0153
a0001c0001t0001g0158
a0001c0001t0001g0161
a0001c0001t0001g0167
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0187
a0001c0001t0001g0190
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0214
a0001c0001t0001g0226
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0001t0001g0256
a0001c0001t0001g0257
a0001c0001t0001g0259
a0001c0001t0001g0261
a0001c0001t0001g0278
a0001c0001t0001g0284
a0001c0001t0002g0042
a0001c0001t0002g0165
a0001c0001t0002g0166
a0001c0001t0002g0173
a0001c0001t0002g0188
a0001c0001t0002g0189
a0001c0001t0002g0191
a0001c0001t0002g0195
a0001c0001t0002g0200
a0001c0001t0002g0201
a0001c0001t0002g0216
a0001c0001t0002g0220
a0001c0001t0002g0235
a0001c0001t0002g0251
a0001c0001t0006g0047
a0001c0001t0006g0154
a0001c0001t0006g0215
a0001c0001t0006g0217
a0001c0001t0006g0221
a0001c0001t0006g0222
a0001c0001t0006g0224
a0001c0001t0006g0225
a0001c0001t0006g0227
a0001c0001t0012g0050
a0001c0001t0012g0262
a0001c0001t0013g0281
a0001c0001t0014g0027
a0001c0001t0015g0162
a0001c0001t0015g0181
a0001c0001t0016g0043
a0001c0001t0031g0117
a0001c0001t0032g0176
a0001c0001t0034g0186
a0001c0008t0006g0218
a0001c0009t0001g0094
a0002c0002t0001g0013
a0002c0002t0001g0032
a0002c0002t0001g0136
a0002c0002t0001g0150
a0002c0002t0002g0001
a0002c0002t0002g0008
a0002c0002t0002g0017
a0002c0002t0002g0018
a0002c0002t0002g0021
a0002c0002t0002g0028
a0002c0002t0002g0034
a0002c0002t0002g0035
a0002c0002t0002g0036
a0002c0002t0002g0037
a0002c0002t0002g0038
a0002c0002t0002g0039
a0002c0002t0002g0055
a0002c0002t0002g0092
a0002c0002t0002g0093
a0002c0002t0002g0099
a0002c0002t0002g0100
a0002c0002t0002g0120
a0002c0002t0002g0131
a0002c0002t0002g0132
a0002c0002t0002g0133
a0002c0002t0002g0135
a0002c0002t0002g0137
a0002c0002t0002g0138
a0002c0002t0002g0139
a0002c0002t0002g0140
a0002c0002t0002g0141
a0002c0002t0002g0142
a0002c0002t0002g0143
a0002c0002t0002g0144
a0002c0002t0002g0145
a0002c0002t0002g0146
a0002c0002t0002g0148
a0002c0002t0002g0149
a0002c0002t0002g0151
a0002c0002t0002g0152
a0002c0002t0002g0155
a0002c0002t0002g0156
a0002c0002t0002g0157
a0002c0002t0002g0196
a0002c0002t0002g0209
a0002c0002t0002g0240
a0002c0002t0002g0258
a0002c0002t0002g0285
a0002c0002t0006g0147
a0002c0002t0033g0053
a0002c0002t0035g0286
a0005c0005t0001g0213
a0005c0005t0011g0046
a0005c0005t0011g0211
a0005c0005t0011g0212
 227 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(224): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00423.hp1
HG00597.hp2
HG00609.hp2
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01358.hp2
HG01361.hp2
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01952.hp2
HG01975.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp2
HG02040.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02148.hp2
HG02165.hp1
HG02273.hp2
HG02280.hp1
HG02293.hp1
HG02300.hp2
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp2
HG02615.hp2
HG02622.hp1
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03098.hp2
HG03209.hp1
HG03209.hp2
HG03239.hp1
HG03486.hp1
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03704.hp2
HG03710.hp1
HG03831.hp2
HG03834.hp1
HG03927.hp1
HG03927.hp2
HG03942.hp2
HG04184.hp1
HG04184.hp2
HG04228.hp2
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18942.hp1
NA18942.hp2
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18947.hp2
NA18950.hp2
NA18952.hp2
NA18953.hp1
NA18954.hp1
NA18956.hp1
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18963.hp1
NA18965.hp1
NA18966.hp2
NA18967.hp1
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18978.hp1
NA18979.hp2
NA18981.hp1
NA18982.hp2
NA18983.hp1
NA18984.hp2
NA18986.hp2
NA18992.hp1
NA18993.hp1
NA18993.hp2
NA18995.hp2
NA18997.hp1
NA18997.hp2
NA18998.hp2
NA19001.hp1
NA19006.hp2
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19054.hp1
NA19055.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp2
NA19058.hp1
NA19058.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp2
NA19063.hp1
NA19064.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp2
NA19068.hp2
NA19074.hp1
NA19076.hp2
NA19077.hp1
NA19077.hp2
NA19081.hp1
NA19082.hp2
NA19083.hp2
NA19084.hp2
NA19086.hp2
NA19087.hp2
NA19088.hp1
NA19090.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1098+120T>G
c.1098+120T>G
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 13/13 chr8 18058715
chr8:18058799 C
C
 T
T
 1 a0001c0007t0023g0279
a0001c0007t0023g0279
 1 HG02257.hp2
HG02257.hp2
 intron_variant MODIFIER c.1098+36G>A
c.1098+36G>A
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 13/13 chr8 18058799
chr8:18058936 A
A
 G
G
 1 a0002c0002t0003g0266
a0002c0002t0003g0266
 1 HG02886.hp1
HG02886.hp1
 intron_variant MODIFIER c.1042-45T>C
c.1042-45T>C
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 12/13 chr8 18058936
chr8:18059044 C
C
 T
T
 238 a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0009
others(235): Show 
a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0072
a0001c0001t0001g0102
a0001c0001t0001g0104
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0153
a0001c0001t0001g0158
a0001c0001t0001g0161
a0001c0001t0001g0167
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0187
a0001c0001t0001g0190
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0214
a0001c0001t0001g0226
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0001t0001g0256
a0001c0001t0001g0257
a0001c0001t0001g0259
a0001c0001t0001g0261
a0001c0001t0001g0278
a0001c0001t0001g0284
a0001c0001t0002g0042
a0001c0001t0002g0165
a0001c0001t0002g0166
a0001c0001t0002g0173
a0001c0001t0002g0188
a0001c0001t0002g0189
a0001c0001t0002g0191
a0001c0001t0002g0195
a0001c0001t0002g0200
a0001c0001t0002g0201
a0001c0001t0002g0216
a0001c0001t0002g0220
a0001c0001t0002g0235
a0001c0001t0002g0251
a0001c0001t0003g0159
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0029
a0001c0001t0004g0065
a0001c0001t0004g0066
a0001c0001t0004g0067
a0001c0001t0004g0068
a0001c0001t0004g0069
a0001c0001t0004g0070
a0001c0001t0004g0071
a0001c0001t0004g0079
a0001c0001t0004g0080
a0001c0001t0004g0081
a0001c0001t0004g0083
a0001c0001t0004g0084
a0001c0001t0004g0089
a0001c0001t0004g0090
a0001c0001t0006g0047
a0001c0001t0006g0154
a0001c0001t0006g0215
a0001c0001t0006g0217
a0001c0001t0006g0221
a0001c0001t0006g0222
a0001c0001t0006g0224
a0001c0001t0006g0225
a0001c0001t0006g0227
a0001c0001t0007g0058
a0001c0001t0007g0064
a0001c0001t0007g0073
a0001c0001t0007g0074
a0001c0001t0007g0075
a0001c0001t0007g0077
a0001c0001t0007g0078
a0001c0001t0007g0228
a0001c0001t0007g0229
a0001c0001t0007g0260
a0001c0001t0012g0050
a0001c0001t0012g0262
a0001c0001t0013g0281
a0001c0001t0014g0027
a0001c0001t0015g0162
a0001c0001t0015g0181
a0001c0001t0016g0043
a0001c0001t0020g0076
a0001c0001t0021g0057
a0001c0001t0022g0082
a0001c0001t0031g0117
a0001c0001t0032g0176
a0001c0001t0034g0186
a0001c0008t0006g0218
a0001c0009t0001g0094
a0002c0002t0001g0013
a0002c0002t0001g0032
a0002c0002t0001g0136
a0002c0002t0001g0150
a0002c0002t0002g0001
a0002c0002t0002g0008
a0002c0002t0002g0017
a0002c0002t0002g0018
a0002c0002t0002g0021
a0002c0002t0002g0028
a0002c0002t0002g0034
a0002c0002t0002g0035
a0002c0002t0002g0036
a0002c0002t0002g0037
a0002c0002t0002g0038
a0002c0002t0002g0039
a0002c0002t0002g0055
a0002c0002t0002g0092
a0002c0002t0002g0093
a0002c0002t0002g0099
a0002c0002t0002g0100
a0002c0002t0002g0120
a0002c0002t0002g0131
a0002c0002t0002g0132
a0002c0002t0002g0133
a0002c0002t0002g0135
a0002c0002t0002g0137
a0002c0002t0002g0138
a0002c0002t0002g0139
a0002c0002t0002g0140
a0002c0002t0002g0141
a0002c0002t0002g0142
a0002c0002t0002g0143
a0002c0002t0002g0144
a0002c0002t0002g0145
a0002c0002t0002g0146
a0002c0002t0002g0148
a0002c0002t0002g0149
a0002c0002t0002g0151
a0002c0002t0002g0152
a0002c0002t0002g0155
a0002c0002t0002g0156
a0002c0002t0002g0157
a0002c0002t0002g0196
a0002c0002t0002g0209
a0002c0002t0002g0240
a0002c0002t0002g0258
a0002c0002t0002g0285
a0002c0002t0003g0004
a0002c0002t0003g0006
a0002c0002t0003g0025
a0002c0002t0003g0031
a0002c0002t0003g0048
a0002c0002t0003g0049
a0002c0002t0003g0059
a0002c0002t0003g0060
a0002c0002t0003g0061
a0002c0002t0003g0091
a0002c0002t0003g0095
a0002c0002t0003g0096
a0002c0002t0003g0097
a0002c0002t0003g0098
a0002c0002t0003g0101
a0002c0002t0003g0103
a0002c0002t0003g0105
a0002c0002t0003g0106
a0002c0002t0003g0108
a0002c0002t0003g0109
a0002c0002t0003g0110
a0002c0002t0003g0111
a0002c0002t0003g0113
a0002c0002t0003g0115
a0002c0002t0003g0116
a0002c0002t0003g0118
a0002c0002t0003g0134
a0002c0002t0003g0160
a0002c0002t0003g0210
a0002c0002t0003g0232
a0002c0002t0003g0233
a0002c0002t0003g0236
a0002c0002t0003g0237
a0002c0002t0003g0238
a0002c0002t0003g0239
a0002c0002t0003g0244
a0002c0002t0003g0245
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0248
a0002c0002t0003g0250
a0002c0002t0003g0252
a0002c0002t0003g0253
a0002c0002t0003g0255
a0002c0002t0003g0266
a0002c0002t0003g0267
a0002c0002t0003g0273
a0002c0002t0003g0274
a0002c0002t0003g0275
a0002c0002t0004g0112
a0002c0002t0005g0241
a0002c0002t0006g0147
a0002c0002t0019g0243
a0002c0002t0027g0242
a0002c0002t0028g0249
a0002c0002t0029g0107
a0002c0002t0030g0254
a0002c0002t0033g0053
a0002c0002t0035g0286
a0004c0004t0003g0007
a0004c0004t0003g0114
a0005c0005t0001g0213
a0005c0005t0011g0046
a0005c0005t0011g0211
a0005c0005t0011g0212
a0006c0006t0003g0023
a0006c0006t0003g0130
a0006c0006t0003g0234
 350 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(347): 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
HG00558.hp1
HG00597.hp1
HG00597.hp2
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02738.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03540.hp1
HG03579.hp1
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp2
NA18612.hp1
NA18747.hp1
NA18747.hp2
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp1
NA18956.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp2
NA18983.hp1
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18986.hp2
NA18988.hp1
NA18991.hp1
NA18991.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18995.hp1
NA18995.hp2
NA18997.hp1
NA18997.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19001.hp1
NA19001.hp2
NA19004.hp1
NA19004.hp2
NA19006.hp2
NA19007.hp2
NA19010.hp1
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19054.hp1
NA19054.hp2
NA19055.hp1
NA19055.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19057.hp2
NA19058.hp1
NA19058.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19076.hp2
NA19077.hp1
NA19077.hp2
NA19081.hp1
NA19081.hp2
NA19082.hp1
NA19082.hp2
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1042-153G>A
c.1042-153G>A
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 12/13 chr8 18059044
chr8:18059089 CT
CT
 C
C
 238 a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0009
others(235): Show 
a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0072
a0001c0001t0001g0102
a0001c0001t0001g0104
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0153
a0001c0001t0001g0158
a0001c0001t0001g0161
a0001c0001t0001g0167
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0187
a0001c0001t0001g0190
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0214
a0001c0001t0001g0226
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0001t0001g0256
a0001c0001t0001g0257
a0001c0001t0001g0259
a0001c0001t0001g0261
a0001c0001t0001g0278
a0001c0001t0001g0284
a0001c0001t0002g0042
a0001c0001t0002g0165
a0001c0001t0002g0166
a0001c0001t0002g0173
a0001c0001t0002g0188
a0001c0001t0002g0189
a0001c0001t0002g0191
a0001c0001t0002g0195
a0001c0001t0002g0200
a0001c0001t0002g0201
a0001c0001t0002g0216
a0001c0001t0002g0220
a0001c0001t0002g0235
a0001c0001t0002g0251
a0001c0001t0003g0159
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0029
a0001c0001t0004g0065
a0001c0001t0004g0066
a0001c0001t0004g0067
a0001c0001t0004g0068
a0001c0001t0004g0069
a0001c0001t0004g0070
a0001c0001t0004g0071
a0001c0001t0004g0079
a0001c0001t0004g0080
a0001c0001t0004g0081
a0001c0001t0004g0083
a0001c0001t0004g0084
a0001c0001t0004g0089
a0001c0001t0004g0090
a0001c0001t0006g0047
a0001c0001t0006g0154
a0001c0001t0006g0215
a0001c0001t0006g0217
a0001c0001t0006g0221
a0001c0001t0006g0222
a0001c0001t0006g0224
a0001c0001t0006g0225
a0001c0001t0006g0227
a0001c0001t0007g0058
a0001c0001t0007g0064
a0001c0001t0007g0073
a0001c0001t0007g0074
a0001c0001t0007g0075
a0001c0001t0007g0077
a0001c0001t0007g0078
a0001c0001t0007g0228
a0001c0001t0007g0229
a0001c0001t0007g0260
a0001c0001t0012g0050
a0001c0001t0012g0262
a0001c0001t0013g0281
a0001c0001t0014g0027
a0001c0001t0015g0162
a0001c0001t0015g0181
a0001c0001t0016g0043
a0001c0001t0020g0076
a0001c0001t0021g0057
a0001c0001t0022g0082
a0001c0001t0031g0117
a0001c0001t0032g0176
a0001c0001t0034g0186
a0001c0008t0006g0218
a0001c0009t0001g0094
a0002c0002t0001g0013
a0002c0002t0001g0032
a0002c0002t0001g0136
a0002c0002t0001g0150
a0002c0002t0002g0001
a0002c0002t0002g0008
a0002c0002t0002g0017
a0002c0002t0002g0018
a0002c0002t0002g0021
a0002c0002t0002g0028
a0002c0002t0002g0034
a0002c0002t0002g0035
a0002c0002t0002g0036
a0002c0002t0002g0037
a0002c0002t0002g0038
a0002c0002t0002g0039
a0002c0002t0002g0055
a0002c0002t0002g0092
a0002c0002t0002g0093
a0002c0002t0002g0099
a0002c0002t0002g0100
a0002c0002t0002g0120
a0002c0002t0002g0131
a0002c0002t0002g0132
a0002c0002t0002g0133
a0002c0002t0002g0135
a0002c0002t0002g0137
a0002c0002t0002g0138
a0002c0002t0002g0139
a0002c0002t0002g0140
a0002c0002t0002g0141
a0002c0002t0002g0142
a0002c0002t0002g0143
a0002c0002t0002g0144
a0002c0002t0002g0145
a0002c0002t0002g0146
a0002c0002t0002g0148
a0002c0002t0002g0149
a0002c0002t0002g0151
a0002c0002t0002g0152
a0002c0002t0002g0155
a0002c0002t0002g0156
a0002c0002t0002g0157
a0002c0002t0002g0196
a0002c0002t0002g0209
a0002c0002t0002g0240
a0002c0002t0002g0258
a0002c0002t0002g0285
a0002c0002t0003g0004
a0002c0002t0003g0006
a0002c0002t0003g0025
a0002c0002t0003g0031
a0002c0002t0003g0048
a0002c0002t0003g0049
a0002c0002t0003g0059
a0002c0002t0003g0060
a0002c0002t0003g0061
a0002c0002t0003g0091
a0002c0002t0003g0095
a0002c0002t0003g0096
a0002c0002t0003g0097
a0002c0002t0003g0098
a0002c0002t0003g0101
a0002c0002t0003g0103
a0002c0002t0003g0105
a0002c0002t0003g0106
a0002c0002t0003g0108
a0002c0002t0003g0109
a0002c0002t0003g0110
a0002c0002t0003g0111
a0002c0002t0003g0113
a0002c0002t0003g0115
a0002c0002t0003g0116
a0002c0002t0003g0118
a0002c0002t0003g0134
a0002c0002t0003g0160
a0002c0002t0003g0210
a0002c0002t0003g0232
a0002c0002t0003g0233
a0002c0002t0003g0236
a0002c0002t0003g0237
a0002c0002t0003g0238
a0002c0002t0003g0239
a0002c0002t0003g0244
a0002c0002t0003g0245
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0248
a0002c0002t0003g0250
a0002c0002t0003g0252
a0002c0002t0003g0253
a0002c0002t0003g0255
a0002c0002t0003g0266
a0002c0002t0003g0267
a0002c0002t0003g0273
a0002c0002t0003g0274
a0002c0002t0003g0275
a0002c0002t0004g0112
a0002c0002t0005g0241
a0002c0002t0006g0147
a0002c0002t0019g0243
a0002c0002t0027g0242
a0002c0002t0028g0249
a0002c0002t0029g0107
a0002c0002t0030g0254
a0002c0002t0033g0053
a0002c0002t0035g0286
a0004c0004t0003g0007
a0004c0004t0003g0114
a0005c0005t0001g0213
a0005c0005t0011g0046
a0005c0005t0011g0211
a0005c0005t0011g0212
a0006c0006t0003g0023
a0006c0006t0003g0130
a0006c0006t0003g0234
 350 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(347): 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
HG00558.hp1
HG00597.hp1
HG00597.hp2
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02738.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03540.hp1
HG03579.hp1
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp2
NA18612.hp1
NA18747.hp1
NA18747.hp2
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp1
NA18956.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp2
NA18983.hp1
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18986.hp2
NA18988.hp1
NA18991.hp1
NA18991.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18995.hp1
NA18995.hp2
NA18997.hp1
NA18997.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19001.hp1
NA19001.hp2
NA19004.hp1
NA19004.hp2
NA19006.hp2
NA19007.hp2
NA19010.hp1
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19054.hp1
NA19054.hp2
NA19055.hp1
NA19055.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19057.hp2
NA19058.hp1
NA19058.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19076.hp2
NA19077.hp1
NA19077.hp2
NA19081.hp1
NA19081.hp2
NA19082.hp1
NA19082.hp2
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1042-199delA
c.1042-199delA
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 12/13 chr8 18059089
chr8:18059219 G
G
 A
A
 1 a0001c0001t0001g0183
a0001c0001t0001g0183
 1 NA18992.hp1
NA18992.hp1
 intron_variant MODIFIER c.1041+122C>T
c.1041+122C>T
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 12/13 chr8 18059219
chr8:18059243 G
G
 A
A
 63 a0001c0001t0003g0159
a0002c0002t0002g0240
a0002c0002t0003g0004
others(60): Show 
a0001c0001t0003g0159
a0002c0002t0002g0240
a0002c0002t0003g0004
a0002c0002t0003g0006
a0002c0002t0003g0025
a0002c0002t0003g0031
a0002c0002t0003g0048
a0002c0002t0003g0049
a0002c0002t0003g0059
a0002c0002t0003g0060
a0002c0002t0003g0061
a0002c0002t0003g0091
a0002c0002t0003g0095
a0002c0002t0003g0096
a0002c0002t0003g0097
a0002c0002t0003g0098
a0002c0002t0003g0101
a0002c0002t0003g0103
a0002c0002t0003g0105
a0002c0002t0003g0106
a0002c0002t0003g0108
a0002c0002t0003g0109
a0002c0002t0003g0110
a0002c0002t0003g0111
a0002c0002t0003g0113
a0002c0002t0003g0115
a0002c0002t0003g0116
a0002c0002t0003g0118
a0002c0002t0003g0134
a0002c0002t0003g0160
a0002c0002t0003g0210
a0002c0002t0003g0232
a0002c0002t0003g0233
a0002c0002t0003g0236
a0002c0002t0003g0237
a0002c0002t0003g0238
a0002c0002t0003g0239
a0002c0002t0003g0244
a0002c0002t0003g0245
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0248
a0002c0002t0003g0250
a0002c0002t0003g0252
a0002c0002t0003g0253
a0002c0002t0003g0255
a0002c0002t0003g0266
a0002c0002t0003g0267
a0002c0002t0003g0273
a0002c0002t0003g0274
a0002c0002t0003g0275
a0002c0002t0004g0112
a0002c0002t0005g0241
a0002c0002t0019g0243
a0002c0002t0027g0242
a0002c0002t0028g0249
a0002c0002t0029g0107
a0002c0002t0030g0254
a0004c0004t0003g0007
a0004c0004t0003g0114
a0006c0006t0003g0023
a0006c0006t0003g0130
a0006c0006t0003g0234
 87 HG00423.hp2
HG00438.hp1
HG00558.hp1
others(84): Show 
HG00423.hp2
HG00438.hp1
HG00558.hp1
HG00597.hp1
HG00621.hp1
HG00621.hp2
HG01106.hp2
HG01358.hp1
HG01943.hp2
HG01975.hp2
HG02040.hp1
HG02083.hp2
HG02145.hp2
HG02148.hp1
HG02165.hp2
HG02572.hp2
HG02602.hp1
HG02717.hp2
HG02738.hp2
HG02886.hp1
HG02895.hp1
HG03098.hp1
HG03130.hp2
HG03139.hp2
HG03225.hp2
HG03239.hp2
HG03471.hp1
HG03491.hp1
HG03579.hp1
HG03669.hp2
HG03704.hp1
HG03831.hp1
HG03834.hp2
HG03942.hp1
HG04115.hp2
HG04204.hp2
NA18522.hp2
NA18939.hp1
NA18941.hp2
NA18943.hp1
NA18944.hp1
NA18947.hp1
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18950.hp1
NA18952.hp1
NA18953.hp2
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp2
NA18960.hp2
NA18962.hp2
NA18965.hp2
NA18966.hp1
NA18977.hp2
NA18978.hp2
NA18979.hp1
NA18981.hp2
NA18984.hp1
NA18986.hp1
NA18988.hp1
NA18991.hp1
NA18991.hp2
NA18992.hp2
NA18998.hp1
NA18999.hp2
NA19001.hp2
NA19004.hp1
NA19007.hp2
NA19010.hp1
NA19011.hp1
NA19055.hp1
NA19057.hp1
NA19063.hp2
NA19064.hp1
NA19067.hp1
NA19068.hp1
NA19081.hp2
NA19082.hp1
NA19084.hp1
NA19087.hp1
NA19088.hp2
NA20129.hp2
NA20752.hp1
NA20905.hp2
 intron_variant MODIFIER c.1041+98C>T
c.1041+98C>T
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 12/13 chr8 18059243
chr8:18059322 G
G
 T
T
 2 a0001c0001t0004g0066
a0001c0001t0004g0067
a0001c0001t0004g0066
a0001c0001t0004g0067
 2 NA18949.hp2
NA19090.hp2
NA18949.hp2
NA19090.hp2
 intron_variant MODIFIER c.1041+19C>A
c.1041+19C>A
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 12/13 chr8 18059322
chr8:18059500 A
A
 C
C
 5 a0003c0003t0005g0276
a0003c0003t0010g0052
a0003c0003t0010g0164
others(2): Show 
a0003c0003t0005g0276
a0003c0003t0010g0052
a0003c0003t0010g0164
a0003c0003t0010g0283
a0003c0003t0024g0282
 6 HG01891.hp1
HG02109.hp1
HG02717.hp1
others(3): Show 
HG01891.hp1
HG02109.hp1
HG02717.hp1
HG03139.hp1
HG03195.hp2
NA19240.hp2
 intron_variant MODIFIER c.918-36T>G
c.918-36T>G
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 11/13 chr8 18059500
chr8:18059752 G
G
 A
A
 1 a0001c0001t0013g0281
a0001c0001t0013g0281
 1 HG02976.hp2
HG02976.hp2
 intron_variant MODIFIER c.786-49C>T
c.786-49C>T
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 10/13 chr8 18059752
chr8:18059837 C
C
 T
T
 113 a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0009
others(110): Show 
a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0072
a0001c0001t0001g0102
a0001c0001t0001g0104
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0153
a0001c0001t0001g0158
a0001c0001t0001g0161
a0001c0001t0001g0167
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0187
a0001c0001t0001g0190
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0214
a0001c0001t0001g0226
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0001t0001g0256
a0001c0001t0001g0257
a0001c0001t0001g0259
a0001c0001t0001g0261
a0001c0001t0001g0278
a0001c0001t0001g0284
a0001c0001t0002g0216
a0001c0001t0002g0220
a0001c0001t0002g0235
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0029
a0001c0001t0004g0065
a0001c0001t0004g0066
a0001c0001t0004g0067
a0001c0001t0004g0068
a0001c0001t0004g0069
a0001c0001t0004g0070
a0001c0001t0004g0071
a0001c0001t0004g0079
a0001c0001t0004g0080
a0001c0001t0004g0081
a0001c0001t0004g0083
a0001c0001t0004g0084
a0001c0001t0004g0089
a0001c0001t0004g0090
a0001c0001t0006g0047
a0001c0001t0006g0154
a0001c0001t0006g0215
a0001c0001t0006g0217
a0001c0001t0006g0221
a0001c0001t0006g0222
a0001c0001t0006g0224
a0001c0001t0006g0225
a0001c0001t0006g0227
a0001c0001t0007g0058
a0001c0001t0007g0064
a0001c0001t0007g0073
a0001c0001t0007g0074
a0001c0001t0007g0075
a0001c0001t0007g0077
a0001c0001t0007g0078
a0001c0001t0007g0228
a0001c0001t0007g0229
a0001c0001t0007g0260
a0001c0001t0012g0050
a0001c0001t0012g0262
a0001c0001t0013g0281
a0001c0001t0014g0027
a0001c0001t0015g0162
a0001c0001t0015g0181
a0001c0001t0016g0043
a0001c0001t0020g0076
a0001c0001t0021g0057
a0001c0001t0022g0082
a0001c0001t0031g0117
a0001c0001t0032g0176
a0001c0001t0034g0186
a0001c0008t0006g0218
a0001c0009t0001g0094
a0005c0005t0001g0213
a0005c0005t0011g0046
a0005c0005t0011g0211
a0005c0005t0011g0212
 163 HG00099.hp2
HG00280.hp2
HG00323.hp2
others(160): Show 
HG00099.hp2
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00438.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG00642.hp2
HG00741.hp1
HG01070.hp1
HG01081.hp1
HG01167.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01243.hp1
HG01255.hp1
HG01256.hp2
HG01257.hp2
HG01261.hp1
HG01358.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp2
HG01884.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02040.hp2
HG02056.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02083.hp1
HG02129.hp1
HG02148.hp2
HG02165.hp1
HG02257.hp1
HG02273.hp1
HG02280.hp1
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02486.hp2
HG02615.hp1
HG02630.hp1
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03491.hp2
HG03492.hp1
HG03540.hp1
HG03669.hp1
HG03688.hp1
HG03704.hp2
HG03710.hp1
HG03834.hp1
HG03927.hp1
HG03927.hp2
HG04115.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
NA18612.hp1
NA18747.hp2
NA18939.hp2
NA18940.hp2
NA18942.hp2
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp2
NA18949.hp2
NA18950.hp2
NA18952.hp2
NA18953.hp1
NA18954.hp1
NA18956.hp1
NA18959.hp2
NA18960.hp1
NA18967.hp1
NA18967.hp2
NA18968.hp2
NA18970.hp2
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18975.hp1
NA18978.hp1
NA18979.hp2
NA18986.hp2
NA18992.hp1
NA18993.hp2
NA18995.hp1
NA18995.hp2
NA18997.hp1
NA18997.hp2
NA18998.hp2
NA18999.hp1
NA19001.hp1
NA19004.hp2
NA19006.hp2
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19054.hp2
NA19055.hp2
NA19056.hp2
NA19057.hp2
NA19058.hp2
NA19060.hp2
NA19062.hp2
NA19064.hp2
NA19066.hp1
NA19074.hp1
NA19077.hp2
NA19081.hp1
NA19083.hp2
NA19084.hp2
NA19086.hp1
NA19087.hp2
NA19088.hp1
NA19090.hp1
NA19090.hp2
NA20752.hp2
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.786-134G>A
c.786-134G>A
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 10/13 chr8 18059837
chr8:18059853 G
G
 C
C
 1 a0003c0003t0013g0271
a0003c0003t0013g0271
 1 HG02451.hp1
HG02451.hp1
 intron_variant MODIFIER c.786-150C>G
c.786-150C>G
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 10/13 chr8 18059853
chr8:18059919 C
C
 A
A
 115 a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0009
others(112): Show 
a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0072
a0001c0001t0001g0102
a0001c0001t0001g0104
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0153
a0001c0001t0001g0158
a0001c0001t0001g0161
a0001c0001t0001g0167
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0187
a0001c0001t0001g0190
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0214
a0001c0001t0001g0226
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0001t0001g0256
a0001c0001t0001g0257
a0001c0001t0001g0259
a0001c0001t0001g0261
a0001c0001t0001g0278
a0001c0001t0001g0284
a0001c0001t0002g0216
a0001c0001t0002g0220
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0029
a0001c0001t0004g0065
a0001c0001t0004g0066
a0001c0001t0004g0067
a0001c0001t0004g0068
a0001c0001t0004g0069
a0001c0001t0004g0070
a0001c0001t0004g0071
a0001c0001t0004g0079
a0001c0001t0004g0080
a0001c0001t0004g0081
a0001c0001t0004g0083
a0001c0001t0004g0084
a0001c0001t0004g0089
a0001c0001t0004g0090
a0001c0001t0006g0047
a0001c0001t0006g0154
a0001c0001t0006g0215
a0001c0001t0006g0217
a0001c0001t0006g0221
a0001c0001t0006g0222
a0001c0001t0006g0224
a0001c0001t0006g0225
a0001c0001t0006g0227
a0001c0001t0007g0058
a0001c0001t0007g0064
a0001c0001t0007g0073
a0001c0001t0007g0074
a0001c0001t0007g0075
a0001c0001t0007g0077
a0001c0001t0007g0078
a0001c0001t0007g0228
a0001c0001t0007g0229
a0001c0001t0007g0260
a0001c0001t0012g0050
a0001c0001t0012g0262
a0001c0001t0013g0281
a0001c0001t0014g0027
a0001c0001t0015g0162
a0001c0001t0015g0181
a0001c0001t0016g0043
a0001c0001t0020g0076
a0001c0001t0021g0057
a0001c0001t0022g0082
a0001c0001t0031g0117
a0001c0001t0032g0176
a0001c0001t0034g0186
a0001c0008t0006g0218
a0001c0009t0001g0094
a0002c0002t0002g0036
a0002c0002t0002g0144
a0005c0005t0001g0213
a0005c0005t0011g0046
a0005c0005t0011g0211
a0005c0005t0011g0212
 166 HG00099.hp2
HG00280.hp2
HG00323.hp2
others(163): Show 
HG00099.hp2
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00438.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG00642.hp2
HG00741.hp1
HG01070.hp1
HG01081.hp1
HG01167.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01256.hp2
HG01257.hp2
HG01261.hp1
HG01358.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp2
HG01884.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02040.hp2
HG02056.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02083.hp1
HG02129.hp1
HG02148.hp2
HG02165.hp1
HG02257.hp1
HG02273.hp1
HG02280.hp1
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02486.hp2
HG02615.hp1
HG02630.hp1
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02922.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03195.hp1
HG03209.hp2
HG03225.hp1
HG03491.hp2
HG03492.hp1
HG03540.hp1
HG03669.hp1
HG03688.hp1
HG03704.hp2
HG03710.hp1
HG03834.hp1
HG03927.hp1
HG03927.hp2
HG04115.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18612.hp1
NA18747.hp2
NA18939.hp2
NA18940.hp2
NA18942.hp2
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp2
NA18949.hp2
NA18950.hp2
NA18952.hp2
NA18953.hp1
NA18954.hp1
NA18956.hp1
NA18959.hp2
NA18960.hp1
NA18967.hp1
NA18967.hp2
NA18968.hp2
NA18970.hp2
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18975.hp1
NA18978.hp1
NA18979.hp2
NA18986.hp2
NA18992.hp1
NA18993.hp2
NA18995.hp1
NA18995.hp2
NA18997.hp1
NA18997.hp2
NA18998.hp2
NA18999.hp1
NA19001.hp1
NA19004.hp2
NA19006.hp2
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19054.hp2
NA19055.hp2
NA19056.hp2
NA19057.hp2
NA19058.hp2
NA19060.hp2
NA19062.hp2
NA19064.hp2
NA19066.hp1
NA19074.hp1
NA19077.hp2
NA19081.hp1
NA19083.hp2
NA19084.hp2
NA19086.hp1
NA19087.hp2
NA19088.hp1
NA19090.hp1
NA19090.hp2
NA20752.hp2
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.786-216G>T
c.786-216G>T
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 10/13 chr8 18059919
chr8:18059942 CCT
CCT
 C
C
 15 a0003c0003t0001g0051
a0003c0003t0001g0269
a0003c0003t0002g0223
others(12): Show 
a0003c0003t0001g0051
a0003c0003t0001g0269
a0003c0003t0002g0223
a0003c0003t0008g0022
a0003c0003t0008g0030
a0003c0003t0008g0085
a0003c0003t0008g0086
a0003c0003t0008g0087
a0003c0003t0008g0088
a0003c0003t0009g0014
a0003c0003t0009g0062
a0003c0003t0009g0198
a0003c0003t0009g0199
a0003c0003t0009g0219
a0003c0003t0017g0272
 22 HG01099.hp1
HG01884.hp1
HG02109.hp2
others(19): Show 
HG01099.hp1
HG01884.hp1
HG02109.hp2
HG02280.hp2
HG02647.hp2
HG02683.hp2
HG02723.hp1
HG02735.hp2
HG02809.hp2
HG02818.hp1
HG02886.hp2
HG02896.hp1
HG02897.hp2
HG02976.hp1
HG03130.hp1
HG03453.hp2
HG03579.hp2
HG03710.hp2
HG04228.hp1
NA18906.hp1
NA19240.hp1
NA20129.hp1
 intron_variant MODIFIER c.786-241_786-240del
others(2): Show 
c.786-241_786-240delAG
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 10/13 chr8 18059942
chr8:18059944 T
T
 C
C
 62 a0001c0001t0002g0042
a0001c0001t0002g0165
a0001c0001t0002g0166
others(59): Show 
a0001c0001t0002g0042
a0001c0001t0002g0165
a0001c0001t0002g0166
a0001c0001t0002g0173
a0001c0001t0002g0188
a0001c0001t0002g0189
a0001c0001t0002g0191
a0001c0001t0002g0195
a0001c0001t0002g0200
a0001c0001t0002g0201
a0001c0001t0002g0251
a0001c0007t0023g0279
a0002c0002t0001g0013
a0002c0002t0001g0032
a0002c0002t0001g0136
a0002c0002t0001g0150
a0002c0002t0002g0001
a0002c0002t0002g0008
a0002c0002t0002g0017
a0002c0002t0002g0018
a0002c0002t0002g0021
a0002c0002t0002g0028
a0002c0002t0002g0034
a0002c0002t0002g0035
a0002c0002t0002g0036
a0002c0002t0002g0037
a0002c0002t0002g0038
a0002c0002t0002g0039
a0002c0002t0002g0055
a0002c0002t0002g0092
a0002c0002t0002g0093
a0002c0002t0002g0099
a0002c0002t0002g0100
a0002c0002t0002g0120
a0002c0002t0002g0131
a0002c0002t0002g0132
a0002c0002t0002g0133
a0002c0002t0002g0135
a0002c0002t0002g0137
a0002c0002t0002g0138
a0002c0002t0002g0139
a0002c0002t0002g0140
a0002c0002t0002g0141
a0002c0002t0002g0142
a0002c0002t0002g0143
a0002c0002t0002g0144
a0002c0002t0002g0145
a0002c0002t0002g0146
a0002c0002t0002g0148
a0002c0002t0002g0149
a0002c0002t0002g0151
a0002c0002t0002g0152
a0002c0002t0002g0155
a0002c0002t0002g0156
a0002c0002t0002g0157
a0002c0002t0002g0196
a0002c0002t0002g0209
a0002c0002t0002g0258
a0002c0002t0002g0285
a0002c0002t0006g0147
a0002c0002t0033g0053
a0002c0002t0035g0286
 100 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(97): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00323.hp1
HG00639.hp1
HG00642.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01070.hp2
HG01081.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01243.hp2
HG01255.hp2
HG01256.hp1
HG01257.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01361.hp2
HG01516.hp2
HG01517.hp1
HG01934.hp2
HG01978.hp1
HG02004.hp2
HG02027.hp2
HG02056.hp2
HG02071.hp1
HG02080.hp2
HG02129.hp2
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02257.hp2
HG02273.hp2
HG02300.hp2
HG02451.hp2
HG02486.hp1
HG02523.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp2
HG02615.hp2
HG02622.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03098.hp2
HG03239.hp1
HG03486.hp1
HG03486.hp2
HG03492.hp2
HG03688.hp2
HG03831.hp2
HG03942.hp2
HG06807.hp2
NA18747.hp1
NA18940.hp1
NA18941.hp1
NA18942.hp1
NA18959.hp1
NA18963.hp1
NA18965.hp1
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18975.hp2
NA18977.hp1
NA18981.hp1
NA18982.hp2
NA18983.hp1
NA18984.hp2
NA18993.hp1
NA19054.hp1
NA19056.hp1
NA19058.hp1
NA19060.hp1
NA19063.hp1
NA19066.hp2
NA19067.hp2
NA19068.hp2
NA19076.hp2
NA19077.hp1
NA19082.hp2
NA19086.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.786-241A>G
c.786-241A>G
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 10/13 chr8 18059944
chr8:18059984 C
C
 T
T
 1 a0002c0002t0002g0021
a0002c0002t0002g0021
 3 HG01109.hp2
HG02572.hp1
HG02970.hp1
HG01109.hp2
HG02572.hp1
HG02970.hp1
 intron_variant MODIFIER c.786-281G>A
c.786-281G>A
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 10/13 chr8 18059984
chr8:18060125 A
A
 G
G
 1 a0001c0007t0023g0279
a0001c0007t0023g0279
 1 HG02257.hp2
HG02257.hp2
 intron_variant MODIFIER c.786-422T>C
c.786-422T>C
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 10/13 chr8 18060125
chr8:18060182 G
G
 C
C
 1 a0002c0002t0003g0273
a0002c0002t0003g0273
 1 HG03579.hp1
HG03579.hp1
 intron_variant MODIFIER c.786-479C>G
c.786-479C>G
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 10/13 chr8 18060182
chr8:18060357 T
T
 C
C
 3 a0002c0002t0002g0008
a0002c0002t0002g0035
a0002c0002t0002g0152
a0002c0002t0002g0008
a0002c0002t0002g0035
a0002c0002t0002g0152
 9 HG00741.hp2
HG01106.hp1
HG01167.hp2
others(6): Show 
HG00741.hp2
HG01106.hp1
HG01167.hp2
HG01175.hp2
HG01516.hp2
HG01517.hp1
HG01978.hp1
HG02300.hp2
NA20805.hp2
 intron_variant MODIFIER c.786-654A>G
c.786-654A>G
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 10/13 chr8 18060357
chr8:18060379 C
C
 T
T
 180 a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0009
others(177): Show 
a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0072
a0001c0001t0001g0102
a0001c0001t0001g0104
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0153
a0001c0001t0001g0158
a0001c0001t0001g0161
a0001c0001t0001g0167
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0187
a0001c0001t0001g0190
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0214
a0001c0001t0001g0226
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0001t0001g0256
a0001c0001t0001g0257
a0001c0001t0001g0259
a0001c0001t0001g0261
a0001c0001t0001g0278
a0001c0001t0001g0284
a0001c0001t0002g0216
a0001c0001t0002g0220
a0001c0001t0002g0235
a0001c0001t0003g0159
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0029
a0001c0001t0004g0065
a0001c0001t0004g0066
a0001c0001t0004g0067
a0001c0001t0004g0068
a0001c0001t0004g0069
a0001c0001t0004g0070
a0001c0001t0004g0071
a0001c0001t0004g0079
a0001c0001t0004g0080
a0001c0001t0004g0081
a0001c0001t0004g0083
a0001c0001t0004g0084
a0001c0001t0004g0089
a0001c0001t0004g0090
a0001c0001t0006g0047
a0001c0001t0006g0154
a0001c0001t0006g0215
a0001c0001t0006g0217
a0001c0001t0006g0221
a0001c0001t0006g0222
a0001c0001t0006g0224
a0001c0001t0006g0225
a0001c0001t0006g0227
a0001c0001t0007g0058
a0001c0001t0007g0064
a0001c0001t0007g0073
a0001c0001t0007g0074
a0001c0001t0007g0075
a0001c0001t0007g0077
a0001c0001t0007g0078
a0001c0001t0007g0228
a0001c0001t0007g0229
a0001c0001t0007g0260
a0001c0001t0012g0050
a0001c0001t0012g0262
a0001c0001t0013g0281
a0001c0001t0014g0027
a0001c0001t0015g0162
a0001c0001t0015g0181
a0001c0001t0016g0043
a0001c0001t0020g0076
a0001c0001t0021g0057
a0001c0001t0022g0082
a0001c0001t0031g0117
a0001c0001t0032g0176
a0001c0001t0034g0186
a0001c0008t0006g0218
a0001c0009t0001g0094
a0002c0002t0002g0240
a0002c0002t0003g0004
a0002c0002t0003g0006
a0002c0002t0003g0025
a0002c0002t0003g0031
a0002c0002t0003g0048
a0002c0002t0003g0049
a0002c0002t0003g0059
a0002c0002t0003g0060
a0002c0002t0003g0061
a0002c0002t0003g0091
a0002c0002t0003g0095
a0002c0002t0003g0096
a0002c0002t0003g0097
a0002c0002t0003g0098
a0002c0002t0003g0101
a0002c0002t0003g0103
a0002c0002t0003g0105
a0002c0002t0003g0106
a0002c0002t0003g0108
a0002c0002t0003g0109
a0002c0002t0003g0110
a0002c0002t0003g0111
a0002c0002t0003g0113
a0002c0002t0003g0115
a0002c0002t0003g0116
a0002c0002t0003g0118
a0002c0002t0003g0134
a0002c0002t0003g0160
a0002c0002t0003g0210
a0002c0002t0003g0232
a0002c0002t0003g0233
a0002c0002t0003g0236
a0002c0002t0003g0237
a0002c0002t0003g0238
a0002c0002t0003g0239
a0002c0002t0003g0244
a0002c0002t0003g0245
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0248
a0002c0002t0003g0250
a0002c0002t0003g0252
a0002c0002t0003g0253
a0002c0002t0003g0255
a0002c0002t0003g0266
a0002c0002t0003g0267
a0002c0002t0003g0273
a0002c0002t0003g0274
a0002c0002t0003g0275
a0002c0002t0004g0112
a0002c0002t0005g0241
a0002c0002t0019g0243
a0002c0002t0027g0242
a0002c0002t0028g0249
a0002c0002t0029g0107
a0002c0002t0030g0254
a0003c0003t0010g0052
a0003c0003t0010g0164
a0003c0003t0010g0283
a0004c0004t0003g0007
a0004c0004t0003g0114
a0005c0005t0001g0213
a0005c0005t0011g0046
a0005c0005t0011g0211
a0005c0005t0011g0212
a0006c0006t0003g0023
a0006c0006t0003g0130
a0006c0006t0003g0234
 255 HG00099.hp2
HG00280.hp2
HG00323.hp2
others(252): Show 
HG00099.hp2
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00558.hp1
HG00597.hp1
HG00597.hp2
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp2
HG00642.hp2
HG00741.hp1
HG01070.hp1
HG01081.hp1
HG01106.hp2
HG01167.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01243.hp1
HG01255.hp1
HG01256.hp2
HG01257.hp2
HG01261.hp1
HG01358.hp1
HG01358.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp2
HG01884.hp2
HG01891.hp1
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02040.hp1
HG02040.hp2
HG02056.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02129.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02273.hp1
HG02280.hp1
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02486.hp2
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02630.hp1
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02738.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03471.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03540.hp1
HG03579.hp1
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03831.hp1
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp2
HG06807.hp1
NA18522.hp2
NA18612.hp1
NA18747.hp2
NA18939.hp1
NA18939.hp2
NA18940.hp2
NA18941.hp2
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp1
NA18956.hp2
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18962.hp2
NA18965.hp2
NA18966.hp1
NA18967.hp1
NA18967.hp2
NA18968.hp2
NA18970.hp2
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18975.hp1
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18981.hp2
NA18984.hp1
NA18986.hp1
NA18986.hp2
NA18988.hp1
NA18991.hp1
NA18991.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp2
NA18995.hp1
NA18995.hp2
NA18997.hp1
NA18997.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19001.hp1
NA19001.hp2
NA19004.hp1
NA19004.hp2
NA19006.hp2
NA19007.hp2
NA19010.hp1
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19054.hp2
NA19055.hp1
NA19055.hp2
NA19056.hp2
NA19057.hp1
NA19057.hp2
NA19058.hp2
NA19060.hp2
NA19062.hp2
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19067.hp1
NA19068.hp1
NA19074.hp1
NA19077.hp2
NA19081.hp1
NA19081.hp2
NA19082.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19086.hp1
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp2
NA20752.hp1
NA20752.hp2
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.786-676G>A
c.786-676G>A
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 10/13 chr8 18060379
chr8:18060546 G
G
 A
A
 3 a0001c0001t0001g0167
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0167
a0001c0001t0001g0178
a0001c0001t0001g0179
 3 HG01515.hp2
HG02280.hp1
HG02486.hp2
HG01515.hp2
HG02280.hp1
HG02486.hp2
 intron_variant MODIFIER c.785+831C>T
c.785+831C>T
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 10/13 chr8 18060546
chr8:18060641 T
T
 G
G
 1 a0003c0003t0008g0030
a0003c0003t0008g0030
 2 HG01884.hp1
HG03130.hp1
HG01884.hp1
HG03130.hp1
 intron_variant MODIFIER c.785+736A>C
c.785+736A>C
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 10/13 chr8 18060641
chr8:18060682 T
T
 C
C
 1 a0001c0001t0013g0281
a0001c0001t0013g0281
 1 HG02976.hp2
HG02976.hp2
 intron_variant MODIFIER c.785+695A>G
c.785+695A>G
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 10/13 chr8 18060682
chr8:18060730 T
T
 C
C
 2 a0002c0002t0018g0270
a0002c0002t0025g0054
a0002c0002t0018g0270
a0002c0002t0025g0054
 2 HG03540.hp2
NA21309.hp2
HG03540.hp2
NA21309.hp2
 intron_variant MODIFIER c.785+647A>G
c.785+647A>G
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 10/13 chr8 18060730
chr8:18060801 G
G
 A
A
 1 a0001c0001t0013g0281
a0001c0001t0013g0281
 1 HG02976.hp2
HG02976.hp2
 intron_variant MODIFIER c.785+576C>T
c.785+576C>T
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 10/13 chr8 18060801
chr8:18060826 C
C
 T
T
 114 a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0009
others(111): Show 
a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0072
a0001c0001t0001g0102
a0001c0001t0001g0104
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0153
a0001c0001t0001g0158
a0001c0001t0001g0161
a0001c0001t0001g0167
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0187
a0001c0001t0001g0190
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0214
a0001c0001t0001g0226
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0001t0001g0256
a0001c0001t0001g0257
a0001c0001t0001g0259
a0001c0001t0001g0261
a0001c0001t0001g0278
a0001c0001t0001g0284
a0001c0001t0002g0216
a0001c0001t0002g0220
a0001c0001t0002g0235
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0029
a0001c0001t0004g0065
a0001c0001t0004g0066
a0001c0001t0004g0067
a0001c0001t0004g0068
a0001c0001t0004g0069
a0001c0001t0004g0070
a0001c0001t0004g0071
a0001c0001t0004g0079
a0001c0001t0004g0080
a0001c0001t0004g0081
a0001c0001t0004g0083
a0001c0001t0004g0084
a0001c0001t0004g0089
a0001c0001t0004g0090
a0001c0001t0006g0047
a0001c0001t0006g0154
a0001c0001t0006g0215
a0001c0001t0006g0217
a0001c0001t0006g0221
a0001c0001t0006g0222
a0001c0001t0006g0224
a0001c0001t0006g0225
a0001c0001t0006g0227
a0001c0001t0007g0058
a0001c0001t0007g0064
a0001c0001t0007g0073
a0001c0001t0007g0074
a0001c0001t0007g0075
a0001c0001t0007g0077
a0001c0001t0007g0078
a0001c0001t0007g0228
a0001c0001t0007g0229
a0001c0001t0007g0260
a0001c0001t0012g0050
a0001c0001t0012g0262
a0001c0001t0013g0281
a0001c0001t0014g0027
a0001c0001t0015g0162
a0001c0001t0015g0181
a0001c0001t0016g0043
a0001c0001t0020g0076
a0001c0001t0021g0057
a0001c0001t0022g0082
a0001c0001t0031g0117
a0001c0001t0032g0176
a0001c0001t0034g0186
a0001c0008t0006g0218
a0001c0009t0001g0094
a0005c0005t0001g0213
a0005c0005t0011g0046
a0005c0005t0011g0211
a0005c0005t0011g0212
 164 HG00099.hp2
HG00280.hp2
HG00323.hp2
others(161): Show 
HG00099.hp2
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00438.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG00642.hp2
HG00741.hp1
HG01070.hp1
HG01081.hp1
HG01167.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01243.hp1
HG01255.hp1
HG01256.hp2
HG01257.hp2
HG01261.hp1
HG01358.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp2
HG01884.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02040.hp2
HG02056.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02083.hp1
HG02129.hp1
HG02148.hp2
HG02165.hp1
HG02257.hp1
HG02273.hp1
HG02280.hp1
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02486.hp2
HG02615.hp1
HG02630.hp1
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03491.hp2
HG03492.hp1
HG03540.hp1
HG03669.hp1
HG03688.hp1
HG03704.hp2
HG03710.hp1
HG03834.hp1
HG03927.hp1
HG03927.hp2
HG04115.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
NA18612.hp1
NA18747.hp2
NA18939.hp2
NA18940.hp2
NA18942.hp2
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp2
NA18949.hp2
NA18950.hp2
NA18952.hp2
NA18953.hp1
NA18954.hp1
NA18956.hp1
NA18959.hp2
NA18960.hp1
NA18967.hp1
NA18967.hp2
NA18968.hp2
NA18970.hp2
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18975.hp1
NA18978.hp1
NA18979.hp2
NA18986.hp2
NA18992.hp1
NA18993.hp2
NA18995.hp1
NA18995.hp2
NA18997.hp1
NA18997.hp2
NA18998.hp2
NA18999.hp1
NA19001.hp1
NA19004.hp2
NA19006.hp2
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19054.hp2
NA19055.hp2
NA19056.hp2
NA19057.hp2
NA19058.hp2
NA19060.hp2
NA19062.hp2
NA19064.hp2
NA19066.hp1
NA19074.hp1
NA19077.hp2
NA19081.hp1
NA19083.hp2
NA19084.hp2
NA19086.hp1
NA19087.hp2
NA19088.hp1
NA19090.hp1
NA19090.hp2
NA20752.hp2
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.785+551G>A
c.785+551G>A
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 10/13 chr8 18060826
chr8:18060889 C
C
 T
T
 3 a0003c0003t0001g0051
a0003c0003t0001g0269
a0003c0003t0017g0272
a0003c0003t0001g0051
a0003c0003t0001g0269
a0003c0003t0017g0272
 4 HG02683.hp2
HG02735.hp2
HG03710.hp2
others(1): Show 
HG02683.hp2
HG02735.hp2
HG03710.hp2
HG04228.hp1
 intron_variant MODIFIER c.785+488G>A
c.785+488G>A
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 10/13 chr8 18060889
chr8:18060945 G
G
 T
T
 61 a0001c0001t0002g0042
a0001c0001t0002g0165
a0001c0001t0002g0166
others(58): Show 
a0001c0001t0002g0042
a0001c0001t0002g0165
a0001c0001t0002g0166
a0001c0001t0002g0173
a0001c0001t0002g0188
a0001c0001t0002g0189
a0001c0001t0002g0191
a0001c0001t0002g0195
a0001c0001t0002g0200
a0001c0001t0002g0201
a0001c0001t0002g0251
a0002c0002t0001g0013
a0002c0002t0001g0032
a0002c0002t0001g0136
a0002c0002t0001g0150
a0002c0002t0002g0001
a0002c0002t0002g0008
a0002c0002t0002g0017
a0002c0002t0002g0018
a0002c0002t0002g0021
a0002c0002t0002g0028
a0002c0002t0002g0034
a0002c0002t0002g0035
a0002c0002t0002g0036
a0002c0002t0002g0037
a0002c0002t0002g0038
a0002c0002t0002g0039
a0002c0002t0002g0055
a0002c0002t0002g0092
a0002c0002t0002g0093
a0002c0002t0002g0099
a0002c0002t0002g0100
a0002c0002t0002g0120
a0002c0002t0002g0131
a0002c0002t0002g0132
a0002c0002t0002g0133
a0002c0002t0002g0135
a0002c0002t0002g0137
a0002c0002t0002g0138
a0002c0002t0002g0139
a0002c0002t0002g0140
a0002c0002t0002g0141
a0002c0002t0002g0142
a0002c0002t0002g0143
a0002c0002t0002g0144
a0002c0002t0002g0145
a0002c0002t0002g0146
a0002c0002t0002g0148
a0002c0002t0002g0149
a0002c0002t0002g0151
a0002c0002t0002g0152
a0002c0002t0002g0155
a0002c0002t0002g0156
a0002c0002t0002g0157
a0002c0002t0002g0196
a0002c0002t0002g0209
a0002c0002t0002g0258
a0002c0002t0002g0285
a0002c0002t0006g0147
a0002c0002t0033g0053
a0002c0002t0035g0286
 99 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(96): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00323.hp1
HG00639.hp1
HG00642.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01070.hp2
HG01081.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01243.hp2
HG01255.hp2
HG01256.hp1
HG01257.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01361.hp2
HG01516.hp2
HG01517.hp1
HG01934.hp2
HG01978.hp1
HG02004.hp2
HG02027.hp2
HG02056.hp2
HG02071.hp1
HG02080.hp2
HG02129.hp2
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02273.hp2
HG02300.hp2
HG02451.hp2
HG02486.hp1
HG02523.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp2
HG02615.hp2
HG02622.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03098.hp2
HG03239.hp1
HG03486.hp1
HG03486.hp2
HG03492.hp2
HG03688.hp2
HG03831.hp2
HG03942.hp2
HG06807.hp2
NA18747.hp1
NA18940.hp1
NA18941.hp1
NA18942.hp1
NA18959.hp1
NA18963.hp1
NA18965.hp1
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18975.hp2
NA18977.hp1
NA18981.hp1
NA18982.hp2
NA18983.hp1
NA18984.hp2
NA18993.hp1
NA19054.hp1
NA19056.hp1
NA19058.hp1
NA19060.hp1
NA19063.hp1
NA19066.hp2
NA19067.hp2
NA19068.hp2
NA19076.hp2
NA19077.hp1
NA19082.hp2
NA19086.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.785+432C>A
c.785+432C>A
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 10/13 chr8 18060945
chr8:18060967 G
G
 C
C
 1 a0001c0001t0007g0077
a0001c0001t0007g0077
 1 HG01261.hp1
HG01261.hp1
 intron_variant MODIFIER c.785+410C>G
c.785+410C>G
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 10/13 chr8 18060967
chr8:18061018 G
G
 A
A
 93 a0001c0001t0003g0159
a0001c0001t0004g0010
a0001c0001t0004g0011
others(90): Show 
a0001c0001t0003g0159
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0029
a0001c0001t0004g0065
a0001c0001t0004g0066
a0001c0001t0004g0067
a0001c0001t0004g0068
a0001c0001t0004g0069
a0001c0001t0004g0070
a0001c0001t0004g0071
a0001c0001t0004g0079
a0001c0001t0004g0080
a0001c0001t0004g0081
a0001c0001t0004g0083
a0001c0001t0004g0084
a0001c0001t0004g0089
a0001c0001t0004g0090
a0001c0001t0007g0058
a0001c0001t0007g0064
a0001c0001t0007g0073
a0001c0001t0007g0074
a0001c0001t0007g0075
a0001c0001t0007g0077
a0001c0001t0007g0078
a0001c0001t0007g0228
a0001c0001t0007g0229
a0001c0001t0007g0260
a0001c0001t0020g0076
a0001c0001t0021g0057
a0001c0001t0022g0082
a0002c0002t0002g0240
a0002c0002t0003g0004
a0002c0002t0003g0006
a0002c0002t0003g0025
a0002c0002t0003g0031
a0002c0002t0003g0048
a0002c0002t0003g0049
a0002c0002t0003g0059
a0002c0002t0003g0060
a0002c0002t0003g0061
a0002c0002t0003g0091
a0002c0002t0003g0095
a0002c0002t0003g0096
a0002c0002t0003g0097
a0002c0002t0003g0098
a0002c0002t0003g0101
a0002c0002t0003g0103
a0002c0002t0003g0105
a0002c0002t0003g0106
a0002c0002t0003g0108
a0002c0002t0003g0109
a0002c0002t0003g0110
a0002c0002t0003g0111
a0002c0002t0003g0113
a0002c0002t0003g0115
a0002c0002t0003g0116
a0002c0002t0003g0118
a0002c0002t0003g0134
a0002c0002t0003g0160
a0002c0002t0003g0210
a0002c0002t0003g0232
a0002c0002t0003g0233
a0002c0002t0003g0236
a0002c0002t0003g0237
a0002c0002t0003g0238
a0002c0002t0003g0239
a0002c0002t0003g0244
a0002c0002t0003g0245
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0248
a0002c0002t0003g0250
a0002c0002t0003g0252
a0002c0002t0003g0253
a0002c0002t0003g0255
a0002c0002t0003g0266
a0002c0002t0003g0267
a0002c0002t0003g0273
a0002c0002t0003g0274
a0002c0002t0003g0275
a0002c0002t0004g0112
a0002c0002t0005g0241
a0002c0002t0019g0243
a0002c0002t0027g0242
a0002c0002t0028g0249
a0002c0002t0029g0107
a0002c0002t0030g0254
a0004c0004t0003g0007
a0004c0004t0003g0114
a0006c0006t0003g0023
a0006c0006t0003g0130
a0006c0006t0003g0234
 124 HG00323.hp2
HG00423.hp2
HG00438.hp1
others(121): Show 
HG00323.hp2
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00558.hp1
HG00597.hp1
HG00621.hp1
HG00621.hp2
HG01106.hp2
HG01167.hp1
HG01169.hp1
HG01257.hp2
HG01261.hp1
HG01358.hp1
HG01361.hp1
HG01433.hp1
HG01496.hp1
HG01884.hp2
HG01943.hp2
HG01952.hp1
HG01975.hp2
HG02040.hp1
HG02083.hp1
HG02083.hp2
HG02145.hp2
HG02148.hp1
HG02165.hp2
HG02257.hp1
HG02273.hp1
HG02293.hp2
HG02300.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02630.hp1
HG02717.hp2
HG02738.hp2
HG02886.hp1
HG02895.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03471.hp1
HG03491.hp1
HG03540.hp1
HG03579.hp1
HG03669.hp2
HG03704.hp1
HG03831.hp1
HG03834.hp2
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp1
NA18522.hp2
NA18612.hp1
NA18939.hp1
NA18941.hp2
NA18943.hp1
NA18944.hp1
NA18945.hp2
NA18947.hp1
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18952.hp1
NA18953.hp2
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp2
NA18960.hp2
NA18962.hp2
NA18965.hp2
NA18966.hp1
NA18967.hp2
NA18972.hp1
NA18977.hp2
NA18978.hp2
NA18979.hp1
NA18981.hp2
NA18984.hp1
NA18986.hp1
NA18988.hp1
NA18991.hp1
NA18991.hp2
NA18992.hp2
NA18995.hp1
NA18998.hp1
NA18999.hp1
NA18999.hp2
NA19001.hp2
NA19004.hp1
NA19004.hp2
NA19007.hp2
NA19010.hp1
NA19011.hp1
NA19043.hp1
NA19054.hp2
NA19055.hp1
NA19057.hp1
NA19063.hp2
NA19064.hp1
NA19067.hp1
NA19068.hp1
NA19081.hp2
NA19082.hp1
NA19084.hp1
NA19086.hp1
NA19087.hp1
NA19088.hp2
NA19090.hp2
NA20129.hp2
NA20752.hp1
NA20905.hp2
 intron_variant MODIFIER c.785+359C>T
c.785+359C>T
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 10/13 chr8 18061018
chr8:18061079 AC
AC
 A
A
 4 a0002c0002t0003g0048
a0002c0002t0003g0097
a0002c0002t0003g0239
others(1): Show 
a0002c0002t0003g0048
a0002c0002t0003g0097
a0002c0002t0003g0239
a0002c0002t0019g0243
 5 NA18960.hp2
NA18998.hp1
NA19011.hp1
others(2): Show 
NA18960.hp2
NA18998.hp1
NA19011.hp1
NA19064.hp1
NA19081.hp2
 intron_variant MODIFIER c.785+297delG
c.785+297delG
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 10/13 chr8 18061079
chr8:18061104 G
G
 A
A
 2 a0002c0002t0002g0135
a0002c0002t0002g0143
a0002c0002t0002g0135
a0002c0002t0002g0143
 2 HG00140.hp2
HG01168.hp1
HG00140.hp2
HG01168.hp1
 intron_variant MODIFIER c.785+273C>T
c.785+273C>T
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 10/13 chr8 18061104
chr8:18061138 T
T
 C
C
 10 a0001c0001t0004g0011
a0001c0001t0004g0065
a0001c0001t0004g0068
others(7): Show 
a0001c0001t0004g0011
a0001c0001t0004g0065
a0001c0001t0004g0068
a0001c0001t0004g0069
a0001c0001t0004g0070
a0001c0001t0004g0071
a0001c0001t0004g0084
a0001c0001t0004g0089
a0001c0001t0004g0090
a0001c0001t0021g0057
 13 HG00438.hp2
HG01257.hp2
HG01952.hp1
others(10): Show 
HG00438.hp2
HG01257.hp2
HG01952.hp1
HG02273.hp1
HG02293.hp2
NA18612.hp1
NA18945.hp2
NA18967.hp2
NA18972.hp1
NA18995.hp1
NA18999.hp1
NA19004.hp2
NA19086.hp1
 intron_variant MODIFIER c.785+239A>G
c.785+239A>G
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 10/13 chr8 18061138
chr8:18061217 G
G
 A
A
 177 a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0009
others(174): Show 
a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0072
a0001c0001t0001g0102
a0001c0001t0001g0104
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0153
a0001c0001t0001g0158
a0001c0001t0001g0161
a0001c0001t0001g0167
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0187
a0001c0001t0001g0190
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0214
a0001c0001t0001g0226
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0001t0001g0256
a0001c0001t0001g0257
a0001c0001t0001g0259
a0001c0001t0001g0261
a0001c0001t0001g0278
a0001c0001t0001g0284
a0001c0001t0002g0216
a0001c0001t0002g0220
a0001c0001t0002g0235
a0001c0001t0003g0159
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0029
a0001c0001t0004g0065
a0001c0001t0004g0066
a0001c0001t0004g0067
a0001c0001t0004g0068
a0001c0001t0004g0069
a0001c0001t0004g0070
a0001c0001t0004g0071
a0001c0001t0004g0079
a0001c0001t0004g0080
a0001c0001t0004g0081
a0001c0001t0004g0083
a0001c0001t0004g0084
a0001c0001t0004g0089
a0001c0001t0004g0090
a0001c0001t0006g0047
a0001c0001t0006g0154
a0001c0001t0006g0215
a0001c0001t0006g0217
a0001c0001t0006g0221
a0001c0001t0006g0222
a0001c0001t0006g0224
a0001c0001t0006g0225
a0001c0001t0006g0227
a0001c0001t0007g0058
a0001c0001t0007g0064
a0001c0001t0007g0073
a0001c0001t0007g0074
a0001c0001t0007g0075
a0001c0001t0007g0077
a0001c0001t0007g0078
a0001c0001t0007g0228
a0001c0001t0007g0229
a0001c0001t0007g0260
a0001c0001t0012g0050
a0001c0001t0012g0262
a0001c0001t0013g0281
a0001c0001t0014g0027
a0001c0001t0015g0162
a0001c0001t0015g0181
a0001c0001t0016g0043
a0001c0001t0020g0076
a0001c0001t0021g0057
a0001c0001t0022g0082
a0001c0001t0031g0117
a0001c0001t0032g0176
a0001c0001t0034g0186
a0001c0008t0006g0218
a0001c0009t0001g0094
a0002c0002t0002g0240
a0002c0002t0003g0004
a0002c0002t0003g0006
a0002c0002t0003g0025
a0002c0002t0003g0031
a0002c0002t0003g0048
a0002c0002t0003g0049
a0002c0002t0003g0059
a0002c0002t0003g0060
a0002c0002t0003g0061
a0002c0002t0003g0091
a0002c0002t0003g0095
a0002c0002t0003g0096
a0002c0002t0003g0097
a0002c0002t0003g0098
a0002c0002t0003g0101
a0002c0002t0003g0103
a0002c0002t0003g0105
a0002c0002t0003g0106
a0002c0002t0003g0108
a0002c0002t0003g0109
a0002c0002t0003g0110
a0002c0002t0003g0111
a0002c0002t0003g0113
a0002c0002t0003g0115
a0002c0002t0003g0116
a0002c0002t0003g0118
a0002c0002t0003g0134
a0002c0002t0003g0160
a0002c0002t0003g0210
a0002c0002t0003g0232
a0002c0002t0003g0233
a0002c0002t0003g0236
a0002c0002t0003g0237
a0002c0002t0003g0238
a0002c0002t0003g0239
a0002c0002t0003g0244
a0002c0002t0003g0245
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0248
a0002c0002t0003g0250
a0002c0002t0003g0252
a0002c0002t0003g0253
a0002c0002t0003g0255
a0002c0002t0003g0266
a0002c0002t0003g0267
a0002c0002t0003g0273
a0002c0002t0003g0274
a0002c0002t0003g0275
a0002c0002t0004g0112
a0002c0002t0005g0241
a0002c0002t0019g0243
a0002c0002t0027g0242
a0002c0002t0028g0249
a0002c0002t0029g0107
a0002c0002t0030g0254
a0004c0004t0003g0007
a0004c0004t0003g0114
a0005c0005t0001g0213
a0005c0005t0011g0046
a0005c0005t0011g0211
a0005c0005t0011g0212
a0006c0006t0003g0023
a0006c0006t0003g0130
a0006c0006t0003g0234
 251 HG00099.hp2
HG00280.hp2
HG00323.hp2
others(248): Show 
HG00099.hp2
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00558.hp1
HG00597.hp1
HG00597.hp2
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp2
HG00642.hp2
HG00741.hp1
HG01070.hp1
HG01081.hp1
HG01106.hp2
HG01167.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01243.hp1
HG01255.hp1
HG01256.hp2
HG01257.hp2
HG01261.hp1
HG01358.hp1
HG01358.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp2
HG01884.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02040.hp1
HG02040.hp2
HG02056.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02273.hp1
HG02280.hp1
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02486.hp2
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02630.hp1
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02738.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03471.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03540.hp1
HG03579.hp1
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03831.hp1
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp2
HG06807.hp1
NA18522.hp2
NA18612.hp1
NA18747.hp2
NA18939.hp1
NA18939.hp2
NA18940.hp2
NA18941.hp2
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp1
NA18956.hp2
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18962.hp2
NA18965.hp2
NA18966.hp1
NA18967.hp1
NA18967.hp2
NA18968.hp2
NA18970.hp2
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18975.hp1
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18981.hp2
NA18984.hp1
NA18986.hp1
NA18986.hp2
NA18988.hp1
NA18991.hp1
NA18991.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp2
NA18995.hp1
NA18995.hp2
NA18997.hp1
NA18997.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19001.hp1
NA19001.hp2
NA19004.hp1
NA19004.hp2
NA19006.hp2
NA19007.hp2
NA19010.hp1
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19054.hp2
NA19055.hp1
NA19055.hp2
NA19056.hp2
NA19057.hp1
NA19057.hp2
NA19058.hp2
NA19060.hp2
NA19062.hp2
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19067.hp1
NA19068.hp1
NA19074.hp1
NA19077.hp2
NA19081.hp1
NA19081.hp2
NA19082.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19086.hp1
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp2
NA20752.hp1
NA20752.hp2
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.785+160C>T
c.785+160C>T
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 10/13 chr8 18061217
chr8:18061224 A
A
 G
G
 2 a0002c0002t0003g0098
a0002c0002t0003g0101
a0002c0002t0003g0098
a0002c0002t0003g0101
 2 NA18950.hp1
NA18956.hp2
NA18950.hp1
NA18956.hp2
 intron_variant MODIFIER c.785+153T>C
c.785+153T>C
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 10/13 chr8 18061224
chr8:18061234 T
T
 C
C
 63 a0001c0001t0003g0159
a0002c0002t0002g0240
a0002c0002t0003g0004
others(60): Show 
a0001c0001t0003g0159
a0002c0002t0002g0240
a0002c0002t0003g0004
a0002c0002t0003g0006
a0002c0002t0003g0025
a0002c0002t0003g0031
a0002c0002t0003g0048
a0002c0002t0003g0049
a0002c0002t0003g0059
a0002c0002t0003g0060
a0002c0002t0003g0061
a0002c0002t0003g0091
a0002c0002t0003g0095
a0002c0002t0003g0096
a0002c0002t0003g0097
a0002c0002t0003g0098
a0002c0002t0003g0101
a0002c0002t0003g0103
a0002c0002t0003g0105
a0002c0002t0003g0106
a0002c0002t0003g0108
a0002c0002t0003g0109
a0002c0002t0003g0110
a0002c0002t0003g0111
a0002c0002t0003g0113
a0002c0002t0003g0115
a0002c0002t0003g0116
a0002c0002t0003g0118
a0002c0002t0003g0134
a0002c0002t0003g0160
a0002c0002t0003g0210
a0002c0002t0003g0232
a0002c0002t0003g0233
a0002c0002t0003g0236
a0002c0002t0003g0237
a0002c0002t0003g0238
a0002c0002t0003g0239
a0002c0002t0003g0244
a0002c0002t0003g0245
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0248
a0002c0002t0003g0250
a0002c0002t0003g0252
a0002c0002t0003g0253
a0002c0002t0003g0255
a0002c0002t0003g0266
a0002c0002t0003g0267
a0002c0002t0003g0273
a0002c0002t0003g0274
a0002c0002t0003g0275
a0002c0002t0004g0112
a0002c0002t0005g0241
a0002c0002t0019g0243
a0002c0002t0027g0242
a0002c0002t0028g0249
a0002c0002t0029g0107
a0002c0002t0030g0254
a0004c0004t0003g0007
a0004c0004t0003g0114
a0006c0006t0003g0023
a0006c0006t0003g0130
a0006c0006t0003g0234
 87 HG00423.hp2
HG00438.hp1
HG00558.hp1
others(84): Show 
HG00423.hp2
HG00438.hp1
HG00558.hp1
HG00597.hp1
HG00621.hp1
HG00621.hp2
HG01106.hp2
HG01358.hp1
HG01943.hp2
HG01975.hp2
HG02040.hp1
HG02083.hp2
HG02145.hp2
HG02148.hp1
HG02165.hp2
HG02572.hp2
HG02602.hp1
HG02717.hp2
HG02738.hp2
HG02886.hp1
HG02895.hp1
HG03098.hp1
HG03130.hp2
HG03139.hp2
HG03225.hp2
HG03239.hp2
HG03471.hp1
HG03491.hp1
HG03579.hp1
HG03669.hp2
HG03704.hp1
HG03831.hp1
HG03834.hp2
HG03942.hp1
HG04115.hp2
HG04204.hp2
NA18522.hp2
NA18939.hp1
NA18941.hp2
NA18943.hp1
NA18944.hp1
NA18947.hp1
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18950.hp1
NA18952.hp1
NA18953.hp2
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp2
NA18960.hp2
NA18962.hp2
NA18965.hp2
NA18966.hp1
NA18977.hp2
NA18978.hp2
NA18979.hp1
NA18981.hp2
NA18984.hp1
NA18986.hp1
NA18988.hp1
NA18991.hp1
NA18991.hp2
NA18992.hp2
NA18998.hp1
NA18999.hp2
NA19001.hp2
NA19004.hp1
NA19007.hp2
NA19010.hp1
NA19011.hp1
NA19055.hp1
NA19057.hp1
NA19063.hp2
NA19064.hp1
NA19067.hp1
NA19068.hp1
NA19081.hp2
NA19082.hp1
NA19084.hp1
NA19087.hp1
NA19088.hp2
NA20129.hp2
NA20752.hp1
NA20905.hp2
 intron_variant MODIFIER c.785+143A>G
c.785+143A>G
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 10/13 chr8 18061234
chr8:18061259 C
C
 T
T
 114 a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0009
others(111): Show 
a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0072
a0001c0001t0001g0102
a0001c0001t0001g0104
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0153
a0001c0001t0001g0158
a0001c0001t0001g0161
a0001c0001t0001g0167
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0187
a0001c0001t0001g0190
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0214
a0001c0001t0001g0226
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0001t0001g0256
a0001c0001t0001g0257
a0001c0001t0001g0259
a0001c0001t0001g0261
a0001c0001t0001g0278
a0001c0001t0001g0284
a0001c0001t0002g0216
a0001c0001t0002g0220
a0001c0001t0002g0235
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0029
a0001c0001t0004g0065
a0001c0001t0004g0066
a0001c0001t0004g0067
a0001c0001t0004g0068
a0001c0001t0004g0069
a0001c0001t0004g0070
a0001c0001t0004g0071
a0001c0001t0004g0079
a0001c0001t0004g0080
a0001c0001t0004g0081
a0001c0001t0004g0083
a0001c0001t0004g0084
a0001c0001t0004g0089
a0001c0001t0004g0090
a0001c0001t0006g0047
a0001c0001t0006g0154
a0001c0001t0006g0215
a0001c0001t0006g0217
a0001c0001t0006g0221
a0001c0001t0006g0222
a0001c0001t0006g0224
a0001c0001t0006g0225
a0001c0001t0006g0227
a0001c0001t0007g0058
a0001c0001t0007g0064
a0001c0001t0007g0073
a0001c0001t0007g0074
a0001c0001t0007g0075
a0001c0001t0007g0077
a0001c0001t0007g0078
a0001c0001t0007g0228
a0001c0001t0007g0229
a0001c0001t0007g0260
a0001c0001t0012g0050
a0001c0001t0012g0262
a0001c0001t0013g0281
a0001c0001t0014g0027
a0001c0001t0015g0162
a0001c0001t0015g0181
a0001c0001t0016g0043
a0001c0001t0020g0076
a0001c0001t0021g0057
a0001c0001t0022g0082
a0001c0001t0031g0117
a0001c0001t0032g0176
a0001c0001t0034g0186
a0001c0008t0006g0218
a0001c0009t0001g0094
a0005c0005t0001g0213
a0005c0005t0011g0046
a0005c0005t0011g0211
a0005c0005t0011g0212
 164 HG00099.hp2
HG00280.hp2
HG00323.hp2
others(161): Show 
HG00099.hp2
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00438.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG00642.hp2
HG00741.hp1
HG01070.hp1
HG01081.hp1
HG01167.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01243.hp1
HG01255.hp1
HG01256.hp2
HG01257.hp2
HG01261.hp1
HG01358.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp2
HG01884.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02040.hp2
HG02056.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02083.hp1
HG02129.hp1
HG02148.hp2
HG02165.hp1
HG02257.hp1
HG02273.hp1
HG02280.hp1
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02486.hp2
HG02615.hp1
HG02630.hp1
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03491.hp2
HG03492.hp1
HG03540.hp1
HG03669.hp1
HG03688.hp1
HG03704.hp2
HG03710.hp1
HG03834.hp1
HG03927.hp1
HG03927.hp2
HG04115.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
NA18612.hp1
NA18747.hp2
NA18939.hp2
NA18940.hp2
NA18942.hp2
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp2
NA18949.hp2
NA18950.hp2
NA18952.hp2
NA18953.hp1
NA18954.hp1
NA18956.hp1
NA18959.hp2
NA18960.hp1
NA18967.hp1
NA18967.hp2
NA18968.hp2
NA18970.hp2
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18975.hp1
NA18978.hp1
NA18979.hp2
NA18986.hp2
NA18992.hp1
NA18993.hp2
NA18995.hp1
NA18995.hp2
NA18997.hp1
NA18997.hp2
NA18998.hp2
NA18999.hp1
NA19001.hp1
NA19004.hp2
NA19006.hp2
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19054.hp2
NA19055.hp2
NA19056.hp2
NA19057.hp2
NA19058.hp2
NA19060.hp2
NA19062.hp2
NA19064.hp2
NA19066.hp1
NA19074.hp1
NA19077.hp2
NA19081.hp1
NA19083.hp2
NA19084.hp2
NA19086.hp1
NA19087.hp2
NA19088.hp1
NA19090.hp1
NA19090.hp2
NA20752.hp2
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.785+118G>A
c.785+118G>A
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 10/13 chr8 18061259
chr8:18061477 A
A
 G
G
 81 a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0009
others(78): Show 
a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0072
a0001c0001t0001g0102
a0001c0001t0001g0104
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0153
a0001c0001t0001g0158
a0001c0001t0001g0161
a0001c0001t0001g0167
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0187
a0001c0001t0001g0190
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0214
a0001c0001t0001g0226
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0001t0001g0256
a0001c0001t0001g0257
a0001c0001t0001g0259
a0001c0001t0001g0261
a0001c0001t0001g0278
a0001c0001t0001g0284
a0001c0001t0002g0216
a0001c0001t0002g0220
a0001c0001t0002g0235
a0001c0001t0006g0047
a0001c0001t0006g0154
a0001c0001t0006g0215
a0001c0001t0006g0217
a0001c0001t0006g0221
a0001c0001t0006g0222
a0001c0001t0006g0224
a0001c0001t0006g0225
a0001c0001t0006g0227
a0001c0001t0012g0050
a0001c0001t0012g0262
a0001c0001t0014g0027
a0001c0001t0015g0162
a0001c0001t0015g0181
a0001c0001t0016g0043
a0001c0001t0031g0117
a0001c0001t0032g0176
a0001c0001t0034g0186
a0001c0008t0006g0218
a0001c0009t0001g0094
a0002c0002t0018g0270
a0002c0002t0025g0054
 123 HG00099.hp2
HG00280.hp2
HG00423.hp1
others(120): Show 
HG00099.hp2
HG00280.hp2
HG00423.hp1
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG00642.hp2
HG00741.hp1
HG01070.hp1
HG01081.hp1
HG01168.hp2
HG01169.hp2
HG01243.hp1
HG01255.hp1
HG01256.hp2
HG01358.hp2
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01943.hp1
HG01952.hp2
HG01975.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02040.hp2
HG02056.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02129.hp1
HG02148.hp2
HG02165.hp1
HG02280.hp1
HG02293.hp1
HG02486.hp2
HG02683.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG03017.hp2
HG03209.hp1
HG03209.hp2
HG03491.hp2
HG03492.hp1
HG03540.hp2
HG03669.hp1
HG03688.hp1
HG03704.hp2
HG03710.hp1
HG03927.hp1
HG03927.hp2
HG04184.hp1
HG04184.hp2
NA18747.hp2
NA18939.hp2
NA18940.hp2
NA18942.hp2
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18947.hp2
NA18950.hp2
NA18952.hp2
NA18953.hp1
NA18954.hp1
NA18956.hp1
NA18959.hp2
NA18960.hp1
NA18967.hp1
NA18968.hp2
NA18970.hp2
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18975.hp1
NA18978.hp1
NA18979.hp2
NA18986.hp2
NA18992.hp1
NA18993.hp2
NA18995.hp2
NA18997.hp1
NA18997.hp2
NA18998.hp2
NA19001.hp1
NA19006.hp2
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19055.hp2
NA19056.hp2
NA19057.hp2
NA19058.hp2
NA19060.hp2
NA19062.hp2
NA19064.hp2
NA19066.hp1
NA19074.hp1
NA19077.hp2
NA19081.hp1
NA19083.hp2
NA19084.hp2
NA19087.hp2
NA19088.hp1
NA19090.hp1
NA20752.hp2
NA20905.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.704-19T>C
c.704-19T>C
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 9/13 chr8 18061477
chr8:18061489 G
G
 A
A
 3 a0003c0003t0001g0051
a0003c0003t0001g0269
a0003c0003t0017g0272
a0003c0003t0001g0051
a0003c0003t0001g0269
a0003c0003t0017g0272
 4 HG02683.hp2
HG02735.hp2
HG03710.hp2
others(1): Show 
HG02683.hp2
HG02735.hp2
HG03710.hp2
HG04228.hp1
 intron_variant MODIFIER c.704-31C>T
c.704-31C>T
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 9/13 chr8 18061489
chr8:18061522 C
C
 T
T
 72 a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0009
others(69): Show 
a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0040
a0001c0001t0001g0045
a0001c0001t0001g0072
a0001c0001t0001g0102
a0001c0001t0001g0104
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0153
a0001c0001t0001g0158
a0001c0001t0001g0161
a0001c0001t0001g0167
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0190
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0203
a0001c0001t0001g0205
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0214
a0001c0001t0001g0226
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0001t0001g0256
a0001c0001t0001g0257
a0001c0001t0001g0259
a0001c0001t0001g0261
a0001c0001t0001g0278
a0001c0001t0001g0284
a0001c0001t0002g0216
a0001c0001t0002g0220
a0001c0001t0002g0235
a0001c0001t0006g0047
a0001c0001t0006g0154
a0001c0001t0006g0215
a0001c0001t0006g0217
a0001c0001t0006g0221
a0001c0001t0006g0222
a0001c0001t0006g0224
a0001c0001t0006g0225
a0001c0001t0006g0227
a0001c0001t0012g0050
a0001c0001t0012g0262
a0001c0001t0014g0027
a0001c0001t0015g0162
a0001c0001t0015g0181
a0001c0001t0016g0043
a0001c0001t0031g0117
a0001c0001t0032g0176
a0001c0001t0034g0186
a0001c0008t0006g0218
a0001c0009t0001g0094
 112 HG00280.hp2
HG00423.hp1
HG00597.hp2
others(109): Show 
HG00280.hp2
HG00423.hp1
HG00597.hp2
HG00609.hp2
HG00642.hp2
HG00741.hp1
HG01081.hp1
HG01255.hp1
HG01358.hp2
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01943.hp1
HG01952.hp2
HG01975.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02040.hp2
HG02056.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02129.hp1
HG02148.hp2
HG02165.hp1
HG02280.hp1
HG02293.hp1
HG02486.hp2
HG02683.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG03017.hp2
HG03209.hp1
HG03209.hp2
HG03491.hp2
HG03492.hp1
HG03669.hp1
HG03688.hp1
HG03704.hp2
HG03710.hp1
HG03927.hp1
HG03927.hp2
HG04184.hp1
HG04184.hp2
NA18747.hp2
NA18939.hp2
NA18940.hp2
NA18942.hp2
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18947.hp2
NA18950.hp2
NA18952.hp2
NA18953.hp1
NA18954.hp1
NA18956.hp1
NA18959.hp2
NA18960.hp1
NA18967.hp1
NA18968.hp2
NA18970.hp2
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18975.hp1
NA18978.hp1
NA18979.hp2
NA18986.hp2
NA18992.hp1
NA18993.hp2
NA18995.hp2
NA18997.hp1
NA18997.hp2
NA18998.hp2
NA19001.hp1
NA19006.hp2
NA19011.hp2
NA19030.hp2
NA19055.hp2
NA19056.hp2
NA19057.hp2
NA19058.hp2
NA19060.hp2
NA19062.hp2
NA19064.hp2
NA19066.hp1
NA19074.hp1
NA19077.hp2
NA19081.hp1
NA19083.hp2
NA19084.hp2
NA19087.hp2
NA19088.hp1
NA19090.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.704-64G>A
c.704-64G>A
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 9/13 chr8 18061522
chr8:18061748 A
A
 G
G
 1 a0001c0007t0023g0279
a0001c0007t0023g0279
 1 HG02257.hp2
HG02257.hp2
 splice_region_variant&intron_variant LOW c.649-8T>C
c.649-8T>C
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 8/13 chr8 18061748
chr8:18061961 A
A
 C
C
 63 a0001c0001t0003g0159
a0002c0002t0002g0240
a0002c0002t0003g0004
others(60): Show 
a0001c0001t0003g0159
a0002c0002t0002g0240
a0002c0002t0003g0004
a0002c0002t0003g0006
a0002c0002t0003g0025
a0002c0002t0003g0031
a0002c0002t0003g0048
a0002c0002t0003g0049
a0002c0002t0003g0059
a0002c0002t0003g0060
a0002c0002t0003g0061
a0002c0002t0003g0091
a0002c0002t0003g0095
a0002c0002t0003g0096
a0002c0002t0003g0097
a0002c0002t0003g0098
a0002c0002t0003g0101
a0002c0002t0003g0103
a0002c0002t0003g0105
a0002c0002t0003g0106
a0002c0002t0003g0108
a0002c0002t0003g0109
a0002c0002t0003g0110
a0002c0002t0003g0111
a0002c0002t0003g0113
a0002c0002t0003g0115
a0002c0002t0003g0116
a0002c0002t0003g0118
a0002c0002t0003g0134
a0002c0002t0003g0160
a0002c0002t0003g0210
a0002c0002t0003g0232
a0002c0002t0003g0233
a0002c0002t0003g0236
a0002c0002t0003g0237
a0002c0002t0003g0238
a0002c0002t0003g0239
a0002c0002t0003g0244
a0002c0002t0003g0245
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0248
a0002c0002t0003g0250
a0002c0002t0003g0252
a0002c0002t0003g0253
a0002c0002t0003g0255
a0002c0002t0003g0266
a0002c0002t0003g0267
a0002c0002t0003g0273
a0002c0002t0003g0274
a0002c0002t0003g0275
a0002c0002t0004g0112
a0002c0002t0005g0241
a0002c0002t0019g0243
a0002c0002t0027g0242
a0002c0002t0028g0249
a0002c0002t0029g0107
a0002c0002t0030g0254
a0004c0004t0003g0007
a0004c0004t0003g0114
a0006c0006t0003g0023
a0006c0006t0003g0130
a0006c0006t0003g0234
 87 HG00423.hp2
HG00438.hp1
HG00558.hp1
others(84): Show 
HG00423.hp2
HG00438.hp1
HG00558.hp1
HG00597.hp1
HG00621.hp1
HG00621.hp2
HG01106.hp2
HG01358.hp1
HG01943.hp2
HG01975.hp2
HG02040.hp1
HG02083.hp2
HG02145.hp2
HG02148.hp1
HG02165.hp2
HG02572.hp2
HG02602.hp1
HG02717.hp2
HG02738.hp2
HG02886.hp1
HG02895.hp1
HG03098.hp1
HG03130.hp2
HG03139.hp2
HG03225.hp2
HG03239.hp2
HG03471.hp1
HG03491.hp1
HG03579.hp1
HG03669.hp2
HG03704.hp1
HG03831.hp1
HG03834.hp2
HG03942.hp1
HG04115.hp2
HG04204.hp2
NA18522.hp2
NA18939.hp1
NA18941.hp2
NA18943.hp1
NA18944.hp1
NA18947.hp1
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18950.hp1
NA18952.hp1
NA18953.hp2
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp2
NA18960.hp2
NA18962.hp2
NA18965.hp2
NA18966.hp1
NA18977.hp2
NA18978.hp2
NA18979.hp1
NA18981.hp2
NA18984.hp1
NA18986.hp1
NA18988.hp1
NA18991.hp1
NA18991.hp2
NA18992.hp2
NA18998.hp1
NA18999.hp2
NA19001.hp2
NA19004.hp1
NA19007.hp2
NA19010.hp1
NA19011.hp1
NA19055.hp1
NA19057.hp1
NA19063.hp2
NA19064.hp1
NA19067.hp1
NA19068.hp1
NA19081.hp2
NA19082.hp1
NA19084.hp1
NA19087.hp1
NA19088.hp2
NA20129.hp2
NA20752.hp1
NA20905.hp2
 intron_variant MODIFIER c.649-221T>G
c.649-221T>G
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 8/13 chr8 18061961
chr8:18062059 G
G
 A
A
 6 a0003c0003t0002g0223
a0003c0003t0008g0022
a0003c0003t0008g0030
others(3): Show 
a0003c0003t0002g0223
a0003c0003t0008g0022
a0003c0003t0008g0030
a0003c0003t0008g0086
a0003c0003t0008g0087
a0003c0003t0008g0088
 9 HG01099.hp1
HG01884.hp1
HG02280.hp2
others(6): Show 
HG01099.hp1
HG01884.hp1
HG02280.hp2
HG02809.hp2
HG02886.hp2
HG03130.hp1
HG03579.hp2
NA18906.hp1
NA20129.hp1
 intron_variant MODIFIER c.648+220C>T
c.648+220C>T
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 8/13 chr8 18062059
chr8:18062259 T
T
 G
G
 1 a0003c0003t0005g0277
a0003c0003t0005g0277
 1 HG03453.hp1
HG03453.hp1
 intron_variant MODIFIER c.648+20A>C
c.648+20A>C
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 8/13 chr8 18062259
chr8:18062533 G
G
 A
A
 1 a0001c0001t0012g0262
a0001c0001t0012g0262
 1 NA18947.hp2
NA18947.hp2
 intron_variant MODIFIER c.504-110C>T
c.504-110C>T
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 7/13 chr8 18062533
chr8:18062568 T
T
 A
A
 53 a0001c0001t0002g0195
a0001c0001t0002g0200
a0001c0007t0023g0279
others(50): Show 
a0001c0001t0002g0195
a0001c0001t0002g0200
a0001c0007t0023g0279
a0002c0002t0001g0013
a0002c0002t0001g0032
a0002c0002t0001g0136
a0002c0002t0001g0150
a0002c0002t0002g0001
a0002c0002t0002g0008
a0002c0002t0002g0017
a0002c0002t0002g0018
a0002c0002t0002g0021
a0002c0002t0002g0028
a0002c0002t0002g0034
a0002c0002t0002g0035
a0002c0002t0002g0036
a0002c0002t0002g0037
a0002c0002t0002g0038
a0002c0002t0002g0039
a0002c0002t0002g0055
a0002c0002t0002g0092
a0002c0002t0002g0093
a0002c0002t0002g0099
a0002c0002t0002g0100
a0002c0002t0002g0120
a0002c0002t0002g0131
a0002c0002t0002g0132
a0002c0002t0002g0133
a0002c0002t0002g0135
a0002c0002t0002g0137
a0002c0002t0002g0138
a0002c0002t0002g0139
a0002c0002t0002g0140
a0002c0002t0002g0141
a0002c0002t0002g0142
a0002c0002t0002g0143
a0002c0002t0002g0144
a0002c0002t0002g0145
a0002c0002t0002g0146
a0002c0002t0002g0148
a0002c0002t0002g0149
a0002c0002t0002g0151
a0002c0002t0002g0152
a0002c0002t0002g0155
a0002c0002t0002g0156
a0002c0002t0002g0157
a0002c0002t0002g0196
a0002c0002t0002g0209
a0002c0002t0002g0258
a0002c0002t0002g0285
a0002c0002t0006g0147
a0002c0002t0033g0053
a0002c0002t0035g0286
 90 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(87): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00323.hp1
HG00642.hp1
HG00738.hp1
HG00741.hp2
HG01070.hp2
HG01106.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01243.hp2
HG01255.hp2
HG01256.hp1
HG01257.hp1
HG01258.hp1
HG01258.hp2
HG01361.hp2
HG01516.hp2
HG01517.hp1
HG01978.hp1
HG02056.hp2
HG02071.hp1
HG02080.hp2
HG02129.hp2
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02257.hp2
HG02273.hp2
HG02300.hp2
HG02486.hp1
HG02523.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp2
HG02615.hp2
HG02622.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03098.hp2
HG03239.hp1
HG03486.hp1
HG03486.hp2
HG03492.hp2
HG03688.hp2
HG03831.hp2
HG03942.hp2
HG06807.hp2
NA18747.hp1
NA18940.hp1
NA18941.hp1
NA18942.hp1
NA18959.hp1
NA18963.hp1
NA18965.hp1
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18975.hp2
NA18977.hp1
NA18981.hp1
NA18982.hp2
NA18983.hp1
NA18984.hp2
NA18993.hp1
NA19054.hp1
NA19056.hp1
NA19058.hp1
NA19060.hp1
NA19063.hp1
NA19066.hp2
NA19067.hp2
NA19068.hp2
NA19076.hp2
NA19077.hp1
NA19082.hp2
NA19086.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.504-145A>T
c.504-145A>T
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 7/13 chr8 18062568
chr8:18062645 T
T
 C
C
 1 a0001c0001t0001g0019
a0001c0001t0001g0019
 3 HG02071.hp2
HG02080.hp1
NA19011.hp2
HG02071.hp2
HG02080.hp1
NA19011.hp2
 intron_variant MODIFIER c.504-222A>G
c.504-222A>G
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 7/13 chr8 18062645
chr8:18062761 A
A
 G
G
 2 a0002c0002t0018g0270
a0002c0002t0025g0054
a0002c0002t0018g0270
a0002c0002t0025g0054
 2 HG03540.hp2
NA21309.hp2
HG03540.hp2
NA21309.hp2
 intron_variant MODIFIER c.504-338T>C
c.504-338T>C
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 7/13 chr8 18062761
chr8:18062828 C
C
 T
T
 117 a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0009
others(114): Show 
a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0072
a0001c0001t0001g0102
a0001c0001t0001g0104
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0153
a0001c0001t0001g0158
a0001c0001t0001g0161
a0001c0001t0001g0167
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0187
a0001c0001t0001g0190
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0214
a0001c0001t0001g0226
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0001t0001g0256
a0001c0001t0001g0257
a0001c0001t0001g0259
a0001c0001t0001g0261
a0001c0001t0001g0278
a0001c0001t0001g0284
a0001c0001t0002g0216
a0001c0001t0002g0220
a0001c0001t0002g0235
a0001c0001t0002g0251
a0001c0001t0003g0159
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0029
a0001c0001t0004g0065
a0001c0001t0004g0066
a0001c0001t0004g0067
a0001c0001t0004g0068
a0001c0001t0004g0069
a0001c0001t0004g0070
a0001c0001t0004g0071
a0001c0001t0004g0079
a0001c0001t0004g0080
a0001c0001t0004g0081
a0001c0001t0004g0083
a0001c0001t0004g0084
a0001c0001t0004g0089
a0001c0001t0004g0090
a0001c0001t0006g0047
a0001c0001t0006g0154
a0001c0001t0006g0215
a0001c0001t0006g0217
a0001c0001t0006g0221
a0001c0001t0006g0222
a0001c0001t0006g0224
a0001c0001t0006g0225
a0001c0001t0006g0227
a0001c0001t0007g0058
a0001c0001t0007g0064
a0001c0001t0007g0073
a0001c0001t0007g0074
a0001c0001t0007g0075
a0001c0001t0007g0077
a0001c0001t0007g0078
a0001c0001t0007g0228
a0001c0001t0007g0229
a0001c0001t0007g0260
a0001c0001t0012g0050
a0001c0001t0012g0262
a0001c0001t0013g0281
a0001c0001t0014g0027
a0001c0001t0015g0162
a0001c0001t0015g0181
a0001c0001t0016g0043
a0001c0001t0020g0076
a0001c0001t0021g0057
a0001c0001t0022g0082
a0001c0001t0031g0117
a0001c0001t0032g0176
a0001c0001t0034g0186
a0001c0007t0023g0279
a0001c0008t0006g0218
a0001c0009t0001g0094
a0005c0005t0001g0213
a0005c0005t0011g0046
a0005c0005t0011g0211
a0005c0005t0011g0212
 167 HG00099.hp2
HG00280.hp2
HG00323.hp2
others(164): Show 
HG00099.hp2
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00438.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG00642.hp2
HG00741.hp1
HG01070.hp1
HG01081.hp1
HG01167.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01243.hp1
HG01255.hp1
HG01256.hp2
HG01257.hp2
HG01261.hp1
HG01358.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp2
HG01884.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02027.hp2
HG02040.hp2
HG02056.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02083.hp1
HG02129.hp1
HG02148.hp2
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02273.hp1
HG02280.hp1
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02486.hp2
HG02615.hp1
HG02630.hp1
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03491.hp2
HG03492.hp1
HG03540.hp1
HG03669.hp1
HG03688.hp1
HG03704.hp2
HG03710.hp1
HG03834.hp1
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG04115.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
NA18612.hp1
NA18747.hp2
NA18939.hp2
NA18940.hp2
NA18942.hp2
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp2
NA18949.hp2
NA18950.hp2
NA18952.hp2
NA18953.hp1
NA18954.hp1
NA18956.hp1
NA18959.hp2
NA18960.hp1
NA18967.hp1
NA18967.hp2
NA18968.hp2
NA18970.hp2
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18975.hp1
NA18978.hp1
NA18979.hp2
NA18986.hp2
NA18992.hp1
NA18993.hp2
NA18995.hp1
NA18995.hp2
NA18997.hp1
NA18997.hp2
NA18998.hp2
NA18999.hp1
NA19001.hp1
NA19004.hp2
NA19006.hp2
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19054.hp2
NA19055.hp2
NA19056.hp2
NA19057.hp2
NA19058.hp2
NA19060.hp2
NA19062.hp2
NA19064.hp2
NA19066.hp1
NA19074.hp1
NA19077.hp2
NA19081.hp1
NA19083.hp2
NA19084.hp2
NA19086.hp1
NA19087.hp2
NA19088.hp1
NA19090.hp1
NA19090.hp2
NA20752.hp2
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.503+357G>A
c.503+357G>A
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 7/13 chr8 18062828
chr8:18062846 C
C
 G
G
 1 a0001c0001t0002g0216
a0001c0001t0002g0216
 1 HG03209.hp2
HG03209.hp2
 intron_variant MODIFIER c.503+339G>C
c.503+339G>C
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 7/13 chr8 18062846
chr8:18062850 C
C
 A
A
 117 a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0009
others(114): Show 
a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0072
a0001c0001t0001g0102
a0001c0001t0001g0104
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0153
a0001c0001t0001g0158
a0001c0001t0001g0161
a0001c0001t0001g0167
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0187
a0001c0001t0001g0190
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0214
a0001c0001t0001g0226
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0001t0001g0256
a0001c0001t0001g0257
a0001c0001t0001g0259
a0001c0001t0001g0261
a0001c0001t0001g0278
a0001c0001t0001g0284
a0001c0001t0002g0216
a0001c0001t0002g0220
a0001c0001t0002g0235
a0001c0001t0002g0251
a0001c0001t0003g0159
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0029
a0001c0001t0004g0065
a0001c0001t0004g0066
a0001c0001t0004g0067
a0001c0001t0004g0068
a0001c0001t0004g0069
a0001c0001t0004g0070
a0001c0001t0004g0071
a0001c0001t0004g0079
a0001c0001t0004g0080
a0001c0001t0004g0081
a0001c0001t0004g0083
a0001c0001t0004g0084
a0001c0001t0004g0089
a0001c0001t0004g0090
a0001c0001t0006g0047
a0001c0001t0006g0154
a0001c0001t0006g0215
a0001c0001t0006g0217
a0001c0001t0006g0221
a0001c0001t0006g0222
a0001c0001t0006g0224
a0001c0001t0006g0225
a0001c0001t0006g0227
a0001c0001t0007g0058
a0001c0001t0007g0064
a0001c0001t0007g0073
a0001c0001t0007g0074
a0001c0001t0007g0075
a0001c0001t0007g0077
a0001c0001t0007g0078
a0001c0001t0007g0228
a0001c0001t0007g0229
a0001c0001t0007g0260
a0001c0001t0012g0050
a0001c0001t0012g0262
a0001c0001t0013g0281
a0001c0001t0014g0027
a0001c0001t0015g0162
a0001c0001t0015g0181
a0001c0001t0016g0043
a0001c0001t0020g0076
a0001c0001t0021g0057
a0001c0001t0022g0082
a0001c0001t0031g0117
a0001c0001t0032g0176
a0001c0001t0034g0186
a0001c0007t0023g0279
a0001c0008t0006g0218
a0001c0009t0001g0094
a0005c0005t0001g0213
a0005c0005t0011g0046
a0005c0005t0011g0211
a0005c0005t0011g0212
 167 HG00099.hp2
HG00280.hp2
HG00323.hp2
others(164): Show 
HG00099.hp2
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00438.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG00642.hp2
HG00741.hp1
HG01070.hp1
HG01081.hp1
HG01167.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01243.hp1
HG01255.hp1
HG01256.hp2
HG01257.hp2
HG01261.hp1
HG01358.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp2
HG01884.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02027.hp2
HG02040.hp2
HG02056.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02083.hp1
HG02129.hp1
HG02148.hp2
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02273.hp1
HG02280.hp1
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02486.hp2
HG02615.hp1
HG02630.hp1
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03491.hp2
HG03492.hp1
HG03540.hp1
HG03669.hp1
HG03688.hp1
HG03704.hp2
HG03710.hp1
HG03834.hp1
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG04115.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
NA18612.hp1
NA18747.hp2
NA18939.hp2
NA18940.hp2
NA18942.hp2
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp2
NA18949.hp2
NA18950.hp2
NA18952.hp2
NA18953.hp1
NA18954.hp1
NA18956.hp1
NA18959.hp2
NA18960.hp1
NA18967.hp1
NA18967.hp2
NA18968.hp2
NA18970.hp2
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18975.hp1
NA18978.hp1
NA18979.hp2
NA18986.hp2
NA18992.hp1
NA18993.hp2
NA18995.hp1
NA18995.hp2
NA18997.hp1
NA18997.hp2
NA18998.hp2
NA18999.hp1
NA19001.hp1
NA19004.hp2
NA19006.hp2
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19054.hp2
NA19055.hp2
NA19056.hp2
NA19057.hp2
NA19058.hp2
NA19060.hp2
NA19062.hp2
NA19064.hp2
NA19066.hp1
NA19074.hp1
NA19077.hp2
NA19081.hp1
NA19083.hp2
NA19084.hp2
NA19086.hp1
NA19087.hp2
NA19088.hp1
NA19090.hp1
NA19090.hp2
NA20752.hp2
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.503+335G>T
c.503+335G>T
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 7/13 chr8 18062850
chr8:18062852 A
A
 G
G
 117 a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0009
others(114): Show 
a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0072
a0001c0001t0001g0102
a0001c0001t0001g0104
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0153
a0001c0001t0001g0158
a0001c0001t0001g0161
a0001c0001t0001g0167
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0187
a0001c0001t0001g0190
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0214
a0001c0001t0001g0226
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0001t0001g0256
a0001c0001t0001g0257
a0001c0001t0001g0259
a0001c0001t0001g0261
a0001c0001t0001g0278
a0001c0001t0001g0284
a0001c0001t0002g0216
a0001c0001t0002g0220
a0001c0001t0002g0235
a0001c0001t0002g0251
a0001c0001t0003g0159
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0029
a0001c0001t0004g0065
a0001c0001t0004g0066
a0001c0001t0004g0067
a0001c0001t0004g0068
a0001c0001t0004g0069
a0001c0001t0004g0070
a0001c0001t0004g0071
a0001c0001t0004g0079
a0001c0001t0004g0080
a0001c0001t0004g0081
a0001c0001t0004g0083
a0001c0001t0004g0084
a0001c0001t0004g0089
a0001c0001t0004g0090
a0001c0001t0006g0047
a0001c0001t0006g0154
a0001c0001t0006g0215
a0001c0001t0006g0217
a0001c0001t0006g0221
a0001c0001t0006g0222
a0001c0001t0006g0224
a0001c0001t0006g0225
a0001c0001t0006g0227
a0001c0001t0007g0058
a0001c0001t0007g0064
a0001c0001t0007g0073
a0001c0001t0007g0074
a0001c0001t0007g0075
a0001c0001t0007g0077
a0001c0001t0007g0078
a0001c0001t0007g0228
a0001c0001t0007g0229
a0001c0001t0007g0260
a0001c0001t0012g0050
a0001c0001t0012g0262
a0001c0001t0013g0281
a0001c0001t0014g0027
a0001c0001t0015g0162
a0001c0001t0015g0181
a0001c0001t0016g0043
a0001c0001t0020g0076
a0001c0001t0021g0057
a0001c0001t0022g0082
a0001c0001t0031g0117
a0001c0001t0032g0176
a0001c0001t0034g0186
a0001c0007t0023g0279
a0001c0008t0006g0218
a0001c0009t0001g0094
a0005c0005t0001g0213
a0005c0005t0011g0046
a0005c0005t0011g0211
a0005c0005t0011g0212
 167 HG00099.hp2
HG00280.hp2
HG00323.hp2
others(164): Show 
HG00099.hp2
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00438.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG00642.hp2
HG00741.hp1
HG01070.hp1
HG01081.hp1
HG01167.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01243.hp1
HG01255.hp1
HG01256.hp2
HG01257.hp2
HG01261.hp1
HG01358.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp2
HG01884.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02027.hp2
HG02040.hp2
HG02056.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02083.hp1
HG02129.hp1
HG02148.hp2
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02273.hp1
HG02280.hp1
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02486.hp2
HG02615.hp1
HG02630.hp1
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03491.hp2
HG03492.hp1
HG03540.hp1
HG03669.hp1
HG03688.hp1
HG03704.hp2
HG03710.hp1
HG03834.hp1
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG04115.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
NA18612.hp1
NA18747.hp2
NA18939.hp2
NA18940.hp2
NA18942.hp2
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp2
NA18949.hp2
NA18950.hp2
NA18952.hp2
NA18953.hp1
NA18954.hp1
NA18956.hp1
NA18959.hp2
NA18960.hp1
NA18967.hp1
NA18967.hp2
NA18968.hp2
NA18970.hp2
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18975.hp1
NA18978.hp1
NA18979.hp2
NA18986.hp2
NA18992.hp1
NA18993.hp2
NA18995.hp1
NA18995.hp2
NA18997.hp1
NA18997.hp2
NA18998.hp2
NA18999.hp1
NA19001.hp1
NA19004.hp2
NA19006.hp2
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19054.hp2
NA19055.hp2
NA19056.hp2
NA19057.hp2
NA19058.hp2
NA19060.hp2
NA19062.hp2
NA19064.hp2
NA19066.hp1
NA19074.hp1
NA19077.hp2
NA19081.hp1
NA19083.hp2
NA19084.hp2
NA19086.hp1
NA19087.hp2
NA19088.hp1
NA19090.hp1
NA19090.hp2
NA20752.hp2
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.503+333T>C
c.503+333T>C
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 7/13 chr8 18062852
chr8:18062864 T
T
 C
C
 1 a0002c0002t0003g0245
a0002c0002t0003g0245
 1 HG02040.hp1
HG02040.hp1
 intron_variant MODIFIER c.503+321A>G
c.503+321A>G
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 7/13 chr8 18062864
chr8:18062868 CT
CT
 C
C
 65 a0001c0001t0002g0042
a0001c0001t0002g0165
a0001c0001t0002g0166
others(62): Show 
a0001c0001t0002g0042
a0001c0001t0002g0165
a0001c0001t0002g0166
a0001c0001t0002g0173
a0001c0001t0002g0188
a0001c0001t0002g0189
a0001c0001t0002g0191
a0001c0001t0002g0195
a0001c0001t0002g0200
a0001c0001t0002g0201
a0002c0002t0001g0013
a0002c0002t0001g0032
a0002c0002t0001g0136
a0002c0002t0002g0001
a0002c0002t0002g0008
a0002c0002t0002g0017
a0002c0002t0002g0018
a0002c0002t0002g0021
a0002c0002t0002g0028
a0002c0002t0002g0034
a0002c0002t0002g0035
a0002c0002t0002g0036
a0002c0002t0002g0037
a0002c0002t0002g0038
a0002c0002t0002g0039
a0002c0002t0002g0055
a0002c0002t0002g0092
a0002c0002t0002g0093
a0002c0002t0002g0099
a0002c0002t0002g0100
a0002c0002t0002g0120
a0002c0002t0002g0131
a0002c0002t0002g0132
a0002c0002t0002g0133
a0002c0002t0002g0135
a0002c0002t0002g0137
a0002c0002t0002g0138
a0002c0002t0002g0139
a0002c0002t0002g0140
a0002c0002t0002g0141
a0002c0002t0002g0142
a0002c0002t0002g0143
a0002c0002t0002g0144
a0002c0002t0002g0145
a0002c0002t0002g0146
a0002c0002t0002g0148
a0002c0002t0002g0149
a0002c0002t0002g0151
a0002c0002t0002g0152
a0002c0002t0002g0155
a0002c0002t0002g0156
a0002c0002t0002g0157
a0002c0002t0002g0196
a0002c0002t0002g0209
a0002c0002t0002g0258
a0002c0002t0002g0285
a0002c0002t0003g0244
a0002c0002t0006g0147
a0002c0002t0018g0270
a0002c0002t0025g0054
a0002c0002t0028g0249
a0002c0002t0033g0053
a0002c0002t0035g0286
a0003c0003t0001g0122
a0003c0003t0001g0129
 103 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(100): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00323.hp1
HG00639.hp1
HG00642.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01070.hp2
HG01081.hp2
HG01099.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01243.hp2
HG01255.hp2
HG01256.hp1
HG01257.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01361.hp2
HG01516.hp2
HG01517.hp1
HG01934.hp2
HG01975.hp2
HG01978.hp1
HG02004.hp2
HG02056.hp2
HG02071.hp1
HG02129.hp2
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02273.hp2
HG02300.hp2
HG02451.hp2
HG02486.hp1
HG02523.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp2
HG02615.hp2
HG02622.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03098.hp2
HG03239.hp1
HG03486.hp1
HG03486.hp2
HG03492.hp2
HG03540.hp2
HG03688.hp2
HG03831.hp2
HG03942.hp2
HG06807.hp2
NA18747.hp1
NA18940.hp1
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18959.hp1
NA18963.hp1
NA18965.hp1
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18975.hp2
NA18977.hp1
NA18981.hp1
NA18982.hp1
NA18982.hp2
NA18983.hp1
NA18984.hp2
NA18993.hp1
NA19054.hp1
NA19056.hp1
NA19058.hp1
NA19060.hp1
NA19063.hp1
NA19066.hp2
NA19067.hp2
NA19068.hp2
NA19076.hp2
NA19077.hp1
NA19082.hp2
NA19086.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.503+316delA
c.503+316delA
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 7/13 chr8 18062868
chr8:18062868 CTT
CTT
 C
C
 39 a0001c0001t0002g0251
a0001c0001t0004g0010
a0001c0001t0004g0011
others(36): Show 
a0001c0001t0002g0251
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0029
a0001c0001t0004g0065
a0001c0001t0004g0066
a0001c0001t0004g0067
a0001c0001t0004g0068
a0001c0001t0004g0069
a0001c0001t0004g0070
a0001c0001t0004g0071
a0001c0001t0004g0079
a0001c0001t0004g0080
a0001c0001t0004g0081
a0001c0001t0004g0083
a0001c0001t0004g0084
a0001c0001t0004g0089
a0001c0001t0004g0090
a0001c0001t0007g0058
a0001c0001t0007g0064
a0001c0001t0007g0073
a0001c0001t0007g0074
a0001c0001t0007g0075
a0001c0001t0007g0077
a0001c0001t0007g0078
a0001c0001t0007g0228
a0001c0001t0007g0229
a0001c0001t0007g0260
a0001c0001t0020g0076
a0001c0001t0021g0057
a0001c0001t0022g0082
a0003c0003t0001g0051
a0003c0003t0001g0269
a0003c0003t0009g0014
a0003c0003t0009g0062
a0003c0003t0009g0198
a0003c0003t0009g0199
a0003c0003t0009g0219
a0003c0003t0017g0272
 50 HG00323.hp2
HG00438.hp2
HG01167.hp1
others(47): Show 
HG00323.hp2
HG00438.hp2
HG01167.hp1
HG01169.hp1
HG01257.hp2
HG01261.hp1
HG01361.hp1
HG01433.hp1
HG01496.hp1
HG01884.hp2
HG01952.hp1
HG02027.hp2
HG02083.hp1
HG02109.hp2
HG02257.hp1
HG02273.hp1
HG02293.hp2
HG02300.hp1
HG02615.hp1
HG02630.hp1
HG02647.hp2
HG02683.hp2
HG02723.hp1
HG02735.hp2
HG02818.hp1
HG02896.hp1
HG02897.hp2
HG03041.hp2
HG03195.hp1
HG03225.hp1
HG03453.hp2
HG03540.hp1
HG03710.hp2
HG04115.hp1
HG04204.hp1
HG04228.hp1
HG06807.hp1
NA18612.hp1
NA18945.hp2
NA18949.hp2
NA18967.hp2
NA18972.hp1
NA18995.hp1
NA18999.hp1
NA19004.hp2
NA19043.hp1
NA19054.hp2
NA19086.hp1
NA19090.hp2
NA19240.hp1
 intron_variant MODIFIER c.503+315_503+316del
others(2): Show 
c.503+315_503+316delAA
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 7/13 chr8 18062868
chr8:18062868 CTTT
CTTT
 C
C
 82 a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0009
others(79): Show 
a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0072
a0001c0001t0001g0102
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0153
a0001c0001t0001g0158
a0001c0001t0001g0161
a0001c0001t0001g0167
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0187
a0001c0001t0001g0190
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0214
a0001c0001t0001g0226
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0001t0001g0256
a0001c0001t0001g0259
a0001c0001t0001g0261
a0001c0001t0001g0278
a0001c0001t0001g0284
a0001c0001t0002g0216
a0001c0001t0002g0220
a0001c0001t0002g0235
a0001c0001t0003g0159
a0001c0001t0006g0047
a0001c0001t0006g0154
a0001c0001t0006g0215
a0001c0001t0006g0217
a0001c0001t0006g0221
a0001c0001t0006g0222
a0001c0001t0006g0224
a0001c0001t0006g0225
a0001c0001t0006g0227
a0001c0001t0012g0050
a0001c0001t0012g0262
a0001c0001t0013g0281
a0001c0001t0014g0027
a0001c0001t0015g0162
a0001c0001t0016g0043
a0001c0001t0031g0117
a0001c0001t0032g0176
a0001c0001t0034g0186
a0001c0007t0023g0279
a0001c0008t0006g0218
a0001c0009t0001g0094
a0005c0005t0001g0213
a0005c0005t0011g0046
a0005c0005t0011g0211
a0005c0005t0011g0212
 125 HG00099.hp2
HG00280.hp2
HG00423.hp1
others(122): Show 
HG00099.hp2
HG00280.hp2
HG00423.hp1
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG00642.hp2
HG00741.hp1
HG01070.hp1
HG01081.hp1
HG01168.hp2
HG01169.hp2
HG01243.hp1
HG01255.hp1
HG01256.hp2
HG01358.hp2
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01943.hp1
HG01975.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02040.hp2
HG02056.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02129.hp1
HG02148.hp2
HG02165.hp1
HG02257.hp2
HG02280.hp1
HG02293.hp1
HG02486.hp2
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03209.hp1
HG03209.hp2
HG03491.hp2
HG03492.hp1
HG03688.hp1
HG03704.hp2
HG03710.hp1
HG03834.hp1
HG03927.hp1
HG03942.hp1
HG04184.hp1
HG04184.hp2
HG04228.hp2
NA18747.hp2
NA18939.hp2
NA18940.hp2
NA18942.hp2
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18947.hp2
NA18950.hp2
NA18952.hp2
NA18953.hp1
NA18954.hp1
NA18956.hp1
NA18960.hp1
NA18967.hp1
NA18968.hp2
NA18970.hp2
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18975.hp1
NA18978.hp1
NA18979.hp2
NA18986.hp2
NA18992.hp1
NA18993.hp2
NA18995.hp2
NA18997.hp1
NA18997.hp2
NA18998.hp2
NA19001.hp1
NA19006.hp2
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19055.hp2
NA19056.hp2
NA19057.hp2
NA19058.hp2
NA19060.hp2
NA19062.hp2
NA19064.hp2
NA19066.hp1
NA19074.hp1
NA19077.hp2
NA19081.hp1
NA19083.hp2
NA19084.hp2
NA19087.hp2
NA19088.hp1
NA19090.hp1
NA20752.hp2
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.503+314_503+316del
others(3): Show 
c.503+314_503+316delAAA
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 7/13 chr8 18062868
chr8:18062975 A
A
 C
C
 1 a0003c0003t0005g0276
a0003c0003t0005g0276
 1 HG02717.hp1
HG02717.hp1
 intron_variant MODIFIER c.503+210T>G
c.503+210T>G
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 7/13 chr8 18062975
chr8:18063058 C
C
 T
T
 116 a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0009
others(113): Show 
a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0072
a0001c0001t0001g0102
a0001c0001t0001g0104
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0153
a0001c0001t0001g0158
a0001c0001t0001g0161
a0001c0001t0001g0167
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0187
a0001c0001t0001g0190
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0214
a0001c0001t0001g0226
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0001t0001g0256
a0001c0001t0001g0257
a0001c0001t0001g0259
a0001c0001t0001g0261
a0001c0001t0001g0278
a0001c0001t0001g0284
a0001c0001t0002g0216
a0001c0001t0002g0220
a0001c0001t0002g0235
a0001c0001t0002g0251
a0001c0001t0003g0159
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0029
a0001c0001t0004g0065
a0001c0001t0004g0066
a0001c0001t0004g0067
a0001c0001t0004g0068
a0001c0001t0004g0069
a0001c0001t0004g0070
a0001c0001t0004g0071
a0001c0001t0004g0079
a0001c0001t0004g0080
a0001c0001t0004g0081
a0001c0001t0004g0083
a0001c0001t0004g0084
a0001c0001t0004g0089
a0001c0001t0004g0090
a0001c0001t0006g0047
a0001c0001t0006g0154
a0001c0001t0006g0215
a0001c0001t0006g0217
a0001c0001t0006g0221
a0001c0001t0006g0222
a0001c0001t0006g0224
a0001c0001t0006g0225
a0001c0001t0006g0227
a0001c0001t0007g0058
a0001c0001t0007g0064
a0001c0001t0007g0073
a0001c0001t0007g0074
a0001c0001t0007g0075
a0001c0001t0007g0077
a0001c0001t0007g0078
a0001c0001t0007g0228
a0001c0001t0007g0229
a0001c0001t0007g0260
a0001c0001t0012g0050
a0001c0001t0012g0262
a0001c0001t0013g0281
a0001c0001t0015g0162
a0001c0001t0015g0181
a0001c0001t0016g0043
a0001c0001t0020g0076
a0001c0001t0021g0057
a0001c0001t0022g0082
a0001c0001t0031g0117
a0001c0001t0032g0176
a0001c0001t0034g0186
a0001c0007t0023g0279
a0001c0008t0006g0218
a0001c0009t0001g0094
a0005c0005t0001g0213
a0005c0005t0011g0046
a0005c0005t0011g0211
a0005c0005t0011g0212
 165 HG00099.hp2
HG00280.hp2
HG00323.hp2
others(162): Show 
HG00099.hp2
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00438.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG00642.hp2
HG00741.hp1
HG01070.hp1
HG01081.hp1
HG01167.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01243.hp1
HG01255.hp1
HG01256.hp2
HG01257.hp2
HG01261.hp1
HG01358.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp2
HG01884.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02027.hp2
HG02040.hp2
HG02056.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02083.hp1
HG02129.hp1
HG02148.hp2
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02273.hp1
HG02280.hp1
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02486.hp2
HG02615.hp1
HG02630.hp1
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02896.hp2
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03491.hp2
HG03492.hp1
HG03540.hp1
HG03669.hp1
HG03688.hp1
HG03704.hp2
HG03710.hp1
HG03834.hp1
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG04115.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
NA18612.hp1
NA18747.hp2
NA18939.hp2
NA18940.hp2
NA18942.hp2
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp2
NA18949.hp2
NA18950.hp2
NA18952.hp2
NA18953.hp1
NA18954.hp1
NA18956.hp1
NA18959.hp2
NA18960.hp1
NA18967.hp1
NA18967.hp2
NA18968.hp2
NA18970.hp2
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18975.hp1
NA18978.hp1
NA18979.hp2
NA18986.hp2
NA18992.hp1
NA18993.hp2
NA18995.hp1
NA18995.hp2
NA18997.hp1
NA18997.hp2
NA18998.hp2
NA18999.hp1
NA19001.hp1
NA19004.hp2
NA19006.hp2
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19054.hp2
NA19055.hp2
NA19056.hp2
NA19057.hp2
NA19058.hp2
NA19060.hp2
NA19062.hp2
NA19064.hp2
NA19066.hp1
NA19074.hp1
NA19077.hp2
NA19081.hp1
NA19083.hp2
NA19084.hp2
NA19086.hp1
NA19087.hp2
NA19088.hp1
NA19090.hp1
NA19090.hp2
NA20752.hp2
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.503+127G>A
c.503+127G>A
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 7/13 chr8 18063058
chr8:18063060 G
G
 T
T
 1 a0001c0001t0014g0027
a0001c0001t0014g0027
 2 HG02895.hp2
HG02897.hp1
HG02895.hp2
HG02897.hp1
 intron_variant MODIFIER c.503+125C>A
c.503+125C>A
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 7/13 chr8 18063060
chr8:18063114 C
C
 T
T
 118 a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0009
others(115): Show 
a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0072
a0001c0001t0001g0102
a0001c0001t0001g0104
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0153
a0001c0001t0001g0158
a0001c0001t0001g0161
a0001c0001t0001g0167
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0187
a0001c0001t0001g0190
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0214
a0001c0001t0001g0226
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0001t0001g0256
a0001c0001t0001g0257
a0001c0001t0001g0259
a0001c0001t0001g0261
a0001c0001t0001g0278
a0001c0001t0001g0284
a0001c0001t0002g0216
a0001c0001t0002g0220
a0001c0001t0002g0235
a0001c0001t0002g0251
a0001c0001t0003g0159
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0029
a0001c0001t0004g0065
a0001c0001t0004g0066
a0001c0001t0004g0067
a0001c0001t0004g0068
a0001c0001t0004g0069
a0001c0001t0004g0070
a0001c0001t0004g0071
a0001c0001t0004g0079
a0001c0001t0004g0080
a0001c0001t0004g0081
a0001c0001t0004g0083
a0001c0001t0004g0084
a0001c0001t0004g0089
a0001c0001t0004g0090
a0001c0001t0006g0047
a0001c0001t0006g0154
a0001c0001t0006g0215
a0001c0001t0006g0217
a0001c0001t0006g0221
a0001c0001t0006g0222
a0001c0001t0006g0224
a0001c0001t0006g0225
a0001c0001t0006g0227
a0001c0001t0007g0058
a0001c0001t0007g0064
a0001c0001t0007g0073
a0001c0001t0007g0074
a0001c0001t0007g0075
a0001c0001t0007g0077
a0001c0001t0007g0078
a0001c0001t0007g0228
a0001c0001t0007g0229
a0001c0001t0007g0260
a0001c0001t0012g0050
a0001c0001t0012g0262
a0001c0001t0013g0281
a0001c0001t0014g0027
a0001c0001t0015g0162
a0001c0001t0015g0181
a0001c0001t0016g0043
a0001c0001t0020g0076
a0001c0001t0021g0057
a0001c0001t0022g0082
a0001c0001t0031g0117
a0001c0001t0032g0176
a0001c0001t0034g0186
a0001c0007t0023g0279
a0001c0008t0006g0218
a0001c0009t0001g0094
a0003c0003t0013g0271
a0005c0005t0001g0213
a0005c0005t0011g0046
a0005c0005t0011g0211
a0005c0005t0011g0212
 168 HG00099.hp2
HG00280.hp2
HG00323.hp2
others(165): Show 
HG00099.hp2
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00438.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG00642.hp2
HG00741.hp1
HG01070.hp1
HG01081.hp1
HG01167.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01243.hp1
HG01255.hp1
HG01256.hp2
HG01257.hp2
HG01261.hp1
HG01358.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp2
HG01884.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02027.hp2
HG02040.hp2
HG02056.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02083.hp1
HG02129.hp1
HG02148.hp2
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02273.hp1
HG02280.hp1
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02451.hp1
HG02486.hp2
HG02615.hp1
HG02630.hp1
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03491.hp2
HG03492.hp1
HG03540.hp1
HG03669.hp1
HG03688.hp1
HG03704.hp2
HG03710.hp1
HG03834.hp1
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG04115.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
NA18612.hp1
NA18747.hp2
NA18939.hp2
NA18940.hp2
NA18942.hp2
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp2
NA18949.hp2
NA18950.hp2
NA18952.hp2
NA18953.hp1
NA18954.hp1
NA18956.hp1
NA18959.hp2
NA18960.hp1
NA18967.hp1
NA18967.hp2
NA18968.hp2
NA18970.hp2
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18975.hp1
NA18978.hp1
NA18979.hp2
NA18986.hp2
NA18992.hp1
NA18993.hp2
NA18995.hp1
NA18995.hp2
NA18997.hp1
NA18997.hp2
NA18998.hp2
NA18999.hp1
NA19001.hp1
NA19004.hp2
NA19006.hp2
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19054.hp2
NA19055.hp2
NA19056.hp2
NA19057.hp2
NA19058.hp2
NA19060.hp2
NA19062.hp2
NA19064.hp2
NA19066.hp1
NA19074.hp1
NA19077.hp2
NA19081.hp1
NA19083.hp2
NA19084.hp2
NA19086.hp1
NA19087.hp2
NA19088.hp1
NA19090.hp1
NA19090.hp2
NA20752.hp2
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.503+71G>A
c.503+71G>A
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 7/13 chr8 18063114
chr8:18063159 T
T
 C
C
 1 a0001c0001t0002g0251
a0001c0001t0002g0251
 1 HG02027.hp2
HG02027.hp2
 intron_variant MODIFIER c.503+26A>G
c.503+26A>G
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 7/13 chr8 18063159
chr8:18063271 A
A
 G
G
 8 a0003c0003t0001g0051
a0003c0003t0001g0269
a0003c0003t0009g0014
others(5): Show 
a0003c0003t0001g0051
a0003c0003t0001g0269
a0003c0003t0009g0014
a0003c0003t0009g0062
a0003c0003t0009g0198
a0003c0003t0009g0199
a0003c0003t0009g0219
a0003c0003t0017g0272
 12 HG02109.hp2
HG02647.hp2
HG02683.hp2
others(9): Show 
HG02109.hp2
HG02647.hp2
HG02683.hp2
HG02723.hp1
HG02735.hp2
HG02818.hp1
HG02896.hp1
HG02897.hp2
HG03453.hp2
HG03710.hp2
HG04228.hp1
NA19240.hp1
 intron_variant MODIFIER c.458-41T>C
c.458-41T>C
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 6/13 chr8 18063271
chr8:18063274 T
T
 C
C
 8 a0003c0003t0001g0051
a0003c0003t0001g0269
a0003c0003t0009g0014
others(5): Show 
a0003c0003t0001g0051
a0003c0003t0001g0269
a0003c0003t0009g0014
a0003c0003t0009g0062
a0003c0003t0009g0198
a0003c0003t0009g0199
a0003c0003t0009g0219
a0003c0003t0017g0272
 12 HG02109.hp2
HG02647.hp2
HG02683.hp2
others(9): Show 
HG02109.hp2
HG02647.hp2
HG02683.hp2
HG02723.hp1
HG02735.hp2
HG02818.hp1
HG02896.hp1
HG02897.hp2
HG03453.hp2
HG03710.hp2
HG04228.hp1
NA19240.hp1
 intron_variant MODIFIER c.458-44A>G
c.458-44A>G
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 6/13 chr8 18063274
chr8:18063298 A
A
 G
G
 60 a0001c0001t0002g0042
a0001c0001t0002g0165
a0001c0001t0002g0166
others(57): Show 
a0001c0001t0002g0042
a0001c0001t0002g0165
a0001c0001t0002g0166
a0001c0001t0002g0173
a0001c0001t0002g0188
a0001c0001t0002g0189
a0001c0001t0002g0191
a0001c0001t0002g0195
a0001c0001t0002g0200
a0001c0001t0002g0201
a0002c0002t0001g0013
a0002c0002t0001g0032
a0002c0002t0001g0136
a0002c0002t0001g0150
a0002c0002t0002g0001
a0002c0002t0002g0008
a0002c0002t0002g0017
a0002c0002t0002g0018
a0002c0002t0002g0021
a0002c0002t0002g0028
a0002c0002t0002g0034
a0002c0002t0002g0035
a0002c0002t0002g0036
a0002c0002t0002g0037
a0002c0002t0002g0038
a0002c0002t0002g0039
a0002c0002t0002g0055
a0002c0002t0002g0092
a0002c0002t0002g0093
a0002c0002t0002g0099
a0002c0002t0002g0100
a0002c0002t0002g0120
a0002c0002t0002g0131
a0002c0002t0002g0132
a0002c0002t0002g0133
a0002c0002t0002g0135
a0002c0002t0002g0137
a0002c0002t0002g0138
a0002c0002t0002g0139
a0002c0002t0002g0140
a0002c0002t0002g0141
a0002c0002t0002g0142
a0002c0002t0002g0143
a0002c0002t0002g0144
a0002c0002t0002g0145
a0002c0002t0002g0146
a0002c0002t0002g0148
a0002c0002t0002g0149
a0002c0002t0002g0151
a0002c0002t0002g0152
a0002c0002t0002g0155
a0002c0002t0002g0156
a0002c0002t0002g0157
a0002c0002t0002g0196
a0002c0002t0002g0209
a0002c0002t0002g0258
a0002c0002t0002g0285
a0002c0002t0006g0147
a0002c0002t0033g0053
a0002c0002t0035g0286
 98 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(95): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00323.hp1
HG00639.hp1
HG00642.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01070.hp2
HG01081.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01243.hp2
HG01255.hp2
HG01256.hp1
HG01257.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01361.hp2
HG01516.hp2
HG01517.hp1
HG01934.hp2
HG01978.hp1
HG02004.hp2
HG02056.hp2
HG02071.hp1
HG02080.hp2
HG02129.hp2
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02273.hp2
HG02300.hp2
HG02451.hp2
HG02486.hp1
HG02523.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp2
HG02615.hp2
HG02622.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03098.hp2
HG03239.hp1
HG03486.hp1
HG03486.hp2
HG03492.hp2
HG03688.hp2
HG03831.hp2
HG03942.hp2
HG06807.hp2
NA18747.hp1
NA18940.hp1
NA18941.hp1
NA18942.hp1
NA18959.hp1
NA18963.hp1
NA18965.hp1
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18975.hp2
NA18977.hp1
NA18981.hp1
NA18982.hp2
NA18983.hp1
NA18984.hp2
NA18993.hp1
NA19054.hp1
NA19056.hp1
NA19058.hp1
NA19060.hp1
NA19063.hp1
NA19066.hp2
NA19067.hp2
NA19068.hp2
NA19076.hp2
NA19077.hp1
NA19082.hp2
NA19086.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.458-68T>C
c.458-68T>C
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 6/13 chr8 18063298
chr8:18063308 ATTAAT
ATTAAT
 A
A
 3 a0001c0001t0001g0016
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0016
a0001c0001t0001g0207
a0001c0001t0001g0208
 6 HG00280.hp2
HG00642.hp2
HG01496.hp2
others(3): Show 
HG00280.hp2
HG00642.hp2
HG01496.hp2
HG01515.hp1
HG01516.hp1
HG01517.hp2
 intron_variant MODIFIER c.458-83_458-79delAT
others(3): Show 
c.458-83_458-79delATTAA
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 6/13 chr8 18063308
chr8:18063311 A
A
 T
T
 48 a0001c0001t0002g0195
a0001c0001t0002g0200
a0002c0002t0001g0013
others(45): Show 
a0001c0001t0002g0195
a0001c0001t0002g0200
a0002c0002t0001g0013
a0002c0002t0001g0032
a0002c0002t0001g0136
a0002c0002t0001g0150
a0002c0002t0002g0001
a0002c0002t0002g0008
a0002c0002t0002g0017
a0002c0002t0002g0018
a0002c0002t0002g0021
a0002c0002t0002g0034
a0002c0002t0002g0035
a0002c0002t0002g0036
a0002c0002t0002g0037
a0002c0002t0002g0038
a0002c0002t0002g0039
a0002c0002t0002g0092
a0002c0002t0002g0093
a0002c0002t0002g0099
a0002c0002t0002g0100
a0002c0002t0002g0120
a0002c0002t0002g0131
a0002c0002t0002g0132
a0002c0002t0002g0133
a0002c0002t0002g0135
a0002c0002t0002g0137
a0002c0002t0002g0138
a0002c0002t0002g0139
a0002c0002t0002g0140
a0002c0002t0002g0141
a0002c0002t0002g0142
a0002c0002t0002g0143
a0002c0002t0002g0144
a0002c0002t0002g0145
a0002c0002t0002g0146
a0002c0002t0002g0148
a0002c0002t0002g0149
a0002c0002t0002g0151
a0002c0002t0002g0152
a0002c0002t0002g0155
a0002c0002t0002g0156
a0002c0002t0002g0157
a0002c0002t0002g0196
a0002c0002t0002g0209
a0002c0002t0002g0285
a0002c0002t0006g0147
a0002c0002t0035g0286
 84 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(81): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00323.hp1
HG00642.hp1
HG00738.hp1
HG00741.hp2
HG01070.hp2
HG01106.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01243.hp2
HG01255.hp2
HG01256.hp1
HG01257.hp1
HG01258.hp1
HG01258.hp2
HG01361.hp2
HG01516.hp2
HG01517.hp1
HG01978.hp1
HG02056.hp2
HG02071.hp1
HG02080.hp2
HG02129.hp2
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02273.hp2
HG02300.hp2
HG02486.hp1
HG02523.hp1
HG02572.hp1
HG02602.hp2
HG02615.hp2
HG02622.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03239.hp1
HG03492.hp2
HG03688.hp2
HG03831.hp2
HG03942.hp2
HG06807.hp2
NA18747.hp1
NA18940.hp1
NA18941.hp1
NA18942.hp1
NA18959.hp1
NA18963.hp1
NA18965.hp1
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18975.hp2
NA18977.hp1
NA18981.hp1
NA18982.hp2
NA18983.hp1
NA18984.hp2
NA18993.hp1
NA19054.hp1
NA19056.hp1
NA19058.hp1
NA19060.hp1
NA19063.hp1
NA19066.hp2
NA19067.hp2
NA19068.hp2
NA19076.hp2
NA19077.hp1
NA19082.hp2
NA19086.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.458-81T>A
c.458-81T>A
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 6/13 chr8 18063311
chr8:18063398 G
G
 A
A
 1 a0003c0003t0010g0164
a0003c0003t0010g0164
 1 HG03139.hp1
HG03139.hp1
 intron_variant MODIFIER c.458-168C>T
c.458-168C>T
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 6/13 chr8 18063398
chr8:18063399 G
G
 A
A
 1 a0002c0002t0030g0254
a0002c0002t0030g0254
 1 HG02572.hp2
HG02572.hp2
 intron_variant MODIFIER c.458-169C>T
c.458-169C>T
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 6/13 chr8 18063399
chr8:18063431 G
G
 A
A
 57 a0001c0001t0001g0174
a0002c0002t0002g0240
a0002c0002t0003g0004
others(54): Show 
a0001c0001t0001g0174
a0002c0002t0002g0240
a0002c0002t0003g0004
a0002c0002t0003g0006
a0002c0002t0003g0031
a0002c0002t0003g0048
a0002c0002t0003g0049
a0002c0002t0003g0059
a0002c0002t0003g0060
a0002c0002t0003g0061
a0002c0002t0003g0091
a0002c0002t0003g0095
a0002c0002t0003g0096
a0002c0002t0003g0097
a0002c0002t0003g0098
a0002c0002t0003g0101
a0002c0002t0003g0103
a0002c0002t0003g0105
a0002c0002t0003g0106
a0002c0002t0003g0108
a0002c0002t0003g0109
a0002c0002t0003g0110
a0002c0002t0003g0111
a0002c0002t0003g0113
a0002c0002t0003g0115
a0002c0002t0003g0116
a0002c0002t0003g0118
a0002c0002t0003g0134
a0002c0002t0003g0160
a0002c0002t0003g0210
a0002c0002t0003g0232
a0002c0002t0003g0233
a0002c0002t0003g0236
a0002c0002t0003g0237
a0002c0002t0003g0238
a0002c0002t0003g0239
a0002c0002t0003g0244
a0002c0002t0003g0245
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0248
a0002c0002t0003g0250
a0002c0002t0003g0252
a0002c0002t0003g0253
a0002c0002t0003g0255
a0002c0002t0004g0112
a0002c0002t0005g0241
a0002c0002t0019g0243
a0002c0002t0027g0242
a0002c0002t0028g0249
a0002c0002t0029g0107
a0002c0002t0030g0254
a0004c0004t0003g0007
a0004c0004t0003g0114
a0006c0006t0003g0023
a0006c0006t0003g0130
a0006c0006t0003g0234
 79 HG00423.hp2
HG00438.hp1
HG00558.hp1
others(76): Show 
HG00423.hp2
HG00438.hp1
HG00558.hp1
HG00597.hp1
HG00621.hp1
HG00621.hp2
HG01106.hp2
HG01358.hp1
HG01943.hp2
HG01975.hp2
HG02040.hp1
HG02083.hp2
HG02148.hp1
HG02165.hp2
HG02572.hp2
HG02602.hp1
HG02738.hp2
HG03098.hp1
HG03225.hp2
HG03239.hp2
HG03471.hp1
HG03491.hp1
HG03669.hp2
HG03704.hp1
HG03831.hp1
HG03834.hp2
HG04115.hp2
HG04204.hp2
NA18939.hp1
NA18941.hp2
NA18943.hp1
NA18944.hp1
NA18947.hp1
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18950.hp1
NA18952.hp1
NA18953.hp2
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp2
NA18960.hp2
NA18962.hp2
NA18965.hp2
NA18966.hp1
NA18977.hp2
NA18978.hp2
NA18979.hp1
NA18981.hp2
NA18984.hp1
NA18986.hp1
NA18988.hp1
NA18991.hp1
NA18991.hp2
NA18992.hp2
NA18998.hp1
NA18999.hp2
NA19001.hp2
NA19004.hp1
NA19007.hp2
NA19010.hp1
NA19011.hp1
NA19030.hp2
NA19055.hp1
NA19057.hp1
NA19063.hp2
NA19064.hp1
NA19067.hp1
NA19068.hp1
NA19081.hp2
NA19082.hp1
NA19084.hp1
NA19087.hp1
NA19088.hp2
NA20129.hp2
NA20752.hp1
NA20905.hp2
 intron_variant MODIFIER c.458-201C>T
c.458-201C>T
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 6/13 chr8 18063431
chr8:18063467 C
C
 A
A
 1 a0001c0001t0001g0045
a0001c0001t0001g0045
 2 HG01255.hp1
HG01358.hp2
HG01255.hp1
HG01358.hp2
 intron_variant MODIFIER c.458-237G>T
c.458-237G>T
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 6/13 chr8 18063467
chr8:18063470 C
C
 CT
CT
 88 a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0009
others(85): Show 
a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0072
a0001c0001t0001g0102
a0001c0001t0001g0104
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0153
a0001c0001t0001g0158
a0001c0001t0001g0161
a0001c0001t0001g0167
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0175
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0187
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0214
a0001c0001t0001g0226
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0001t0001g0256
a0001c0001t0001g0257
a0001c0001t0001g0259
a0001c0001t0001g0261
a0001c0001t0001g0278
a0001c0001t0001g0284
a0001c0001t0002g0216
a0001c0001t0002g0220
a0001c0001t0002g0235
a0001c0001t0003g0159
a0001c0001t0006g0047
a0001c0001t0006g0154
a0001c0001t0006g0215
a0001c0001t0006g0217
a0001c0001t0006g0221
a0001c0001t0006g0222
a0001c0001t0006g0224
a0001c0001t0006g0225
a0001c0001t0006g0227
a0001c0001t0012g0050
a0001c0001t0012g0262
a0001c0001t0014g0027
a0001c0001t0015g0162
a0001c0001t0015g0181
a0001c0001t0016g0043
a0001c0001t0031g0117
a0001c0001t0032g0176
a0001c0001t0034g0186
a0001c0008t0006g0218
a0001c0009t0001g0094
a0003c0003t0001g0051
a0003c0003t0001g0121
a0003c0003t0001g0269
a0003c0003t0005g0276
a0003c0003t0009g0014
a0003c0003t0009g0062
a0003c0003t0009g0198
a0003c0003t0009g0199
a0003c0003t0009g0219
a0003c0003t0017g0272
 134 HG00099.hp2
HG00280.hp2
HG00423.hp1
others(131): Show 
HG00099.hp2
HG00280.hp2
HG00423.hp1
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG00642.hp2
HG00741.hp1
HG01070.hp1
HG01081.hp1
HG01168.hp2
HG01169.hp2
HG01243.hp1
HG01255.hp1
HG01256.hp2
HG01358.hp2
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01943.hp1
HG01952.hp2
HG01975.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02040.hp2
HG02056.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02109.hp2
HG02129.hp1
HG02148.hp2
HG02165.hp1
HG02280.hp1
HG02293.hp1
HG02486.hp2
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02818.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG03017.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp2
HG03491.hp2
HG03492.hp1
HG03669.hp1
HG03688.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG04184.hp1
HG04184.hp2
HG04228.hp1
NA18747.hp2
NA18939.hp2
NA18940.hp2
NA18942.hp2
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18947.hp2
NA18950.hp2
NA18952.hp2
NA18953.hp1
NA18954.hp1
NA18956.hp1
NA18959.hp2
NA18960.hp1
NA18967.hp1
NA18968.hp1
NA18968.hp2
NA18970.hp2
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18975.hp1
NA18978.hp1
NA18979.hp2
NA18986.hp2
NA18992.hp1
NA18993.hp2
NA18995.hp2
NA18997.hp1
NA18997.hp2
NA18998.hp2
NA19001.hp1
NA19011.hp2
NA19030.hp1
NA19055.hp2
NA19056.hp2
NA19057.hp2
NA19058.hp2
NA19060.hp2
NA19062.hp2
NA19064.hp2
NA19066.hp1
NA19074.hp1
NA19077.hp2
NA19081.hp1
NA19083.hp2
NA19084.hp2
NA19087.hp2
NA19088.hp1
NA19090.hp1
NA19240.hp1
NA20752.hp2
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.458-241dupA
c.458-241dupA
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 6/13 chr8 18063470
chr8:18063470 C
C
 CTT
CTT
 8 a0001c0001t0001g0174
a0001c0001t0001g0190
a0001c0001t0013g0281
others(5): Show 
a0001c0001t0001g0174
a0001c0001t0001g0190
a0001c0001t0013g0281
a0003c0003t0013g0271
a0005c0005t0001g0213
a0005c0005t0011g0046
a0005c0005t0011g0211
a0005c0005t0011g0212
 9 HG02451.hp1
HG02698.hp1
HG02698.hp2
others(6): Show 
HG02451.hp1
HG02698.hp1
HG02698.hp2
HG02976.hp2
HG03017.hp1
HG03834.hp1
HG04228.hp2
NA19006.hp2
NA19030.hp2
 intron_variant MODIFIER c.458-242_458-241dup
others(2): Show 
c.458-242_458-241dupAA
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 6/13 chr8 18063470
chr8:18063485 T
T
 TTG
TTG
 30 a0001c0001t0002g0251
a0001c0001t0004g0010
a0001c0001t0004g0011
others(27): Show 
a0001c0001t0002g0251
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0029
a0001c0001t0004g0065
a0001c0001t0004g0066
a0001c0001t0004g0067
a0001c0001t0004g0068
a0001c0001t0004g0069
a0001c0001t0004g0070
a0001c0001t0004g0079
a0001c0001t0004g0080
a0001c0001t0004g0081
a0001c0001t0004g0083
a0001c0001t0004g0084
a0001c0001t0004g0089
a0001c0001t0004g0090
a0001c0001t0007g0058
a0001c0001t0007g0064
a0001c0001t0007g0073
a0001c0001t0007g0074
a0001c0001t0007g0075
a0001c0001t0007g0077
a0001c0001t0007g0078
a0001c0001t0007g0228
a0001c0001t0007g0229
a0001c0001t0007g0260
a0001c0001t0020g0076
a0001c0001t0021g0057
a0001c0001t0022g0082
 37 HG00323.hp2
HG00438.hp2
HG01167.hp1
others(34): Show 
HG00323.hp2
HG00438.hp2
HG01167.hp1
HG01169.hp1
HG01257.hp2
HG01261.hp1
HG01361.hp1
HG01433.hp1
HG01496.hp1
HG01884.hp2
HG01952.hp1
HG02027.hp2
HG02083.hp1
HG02257.hp1
HG02273.hp1
HG02293.hp2
HG02300.hp1
HG02615.hp1
HG02630.hp1
HG03041.hp2
HG03195.hp1
HG03225.hp1
HG03540.hp1
HG04115.hp1
HG04204.hp1
HG06807.hp1
NA18612.hp1
NA18945.hp2
NA18949.hp2
NA18967.hp2
NA18972.hp1
NA18995.hp1
NA18999.hp1
NA19004.hp2
NA19043.hp1
NA19054.hp2
NA19090.hp2
 intron_variant MODIFIER c.458-256_458-255ins
others(2): Show 
c.458-256_458-255insCA
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 6/13 chr8 18063485
chr8:18063566 G
G
 A
A
 31 a0001c0001t0002g0251
a0001c0001t0004g0010
a0001c0001t0004g0011
others(28): Show 
a0001c0001t0002g0251
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0029
a0001c0001t0004g0065
a0001c0001t0004g0066
a0001c0001t0004g0067
a0001c0001t0004g0068
a0001c0001t0004g0069
a0001c0001t0004g0070
a0001c0001t0004g0071
a0001c0001t0004g0079
a0001c0001t0004g0080
a0001c0001t0004g0081
a0001c0001t0004g0083
a0001c0001t0004g0084
a0001c0001t0004g0089
a0001c0001t0004g0090
a0001c0001t0007g0058
a0001c0001t0007g0064
a0001c0001t0007g0073
a0001c0001t0007g0074
a0001c0001t0007g0075
a0001c0001t0007g0077
a0001c0001t0007g0078
a0001c0001t0007g0228
a0001c0001t0007g0229
a0001c0001t0007g0260
a0001c0001t0020g0076
a0001c0001t0021g0057
a0001c0001t0022g0082
 38 HG00323.hp2
HG00438.hp2
HG01167.hp1
others(35): Show 
HG00323.hp2
HG00438.hp2
HG01167.hp1
HG01169.hp1
HG01257.hp2
HG01261.hp1
HG01361.hp1
HG01433.hp1
HG01496.hp1
HG01884.hp2
HG01952.hp1
HG02027.hp2
HG02083.hp1
HG02257.hp1
HG02273.hp1
HG02293.hp2
HG02300.hp1
HG02615.hp1
HG02630.hp1
HG03041.hp2
HG03195.hp1
HG03225.hp1
HG03540.hp1
HG04115.hp1
HG04204.hp1
HG06807.hp1
NA18612.hp1
NA18945.hp2
NA18949.hp2
NA18967.hp2
NA18972.hp1
NA18995.hp1
NA18999.hp1
NA19004.hp2
NA19043.hp1
NA19054.hp2
NA19086.hp1
NA19090.hp2
 intron_variant MODIFIER c.458-336C>T
c.458-336C>T
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 6/13 chr8 18063566
chr8:18063587 G
G
 A
A
 1 a0002c0002t0002g0142
a0002c0002t0002g0142
 1 HG02486.hp1
HG02486.hp1
 intron_variant MODIFIER c.458-357C>T
c.458-357C>T
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 6/13 chr8 18063587
chr8:18063644 C
C
 A
A
 2 a0002c0002t0002g0135
a0002c0002t0002g0143
a0002c0002t0002g0135
a0002c0002t0002g0143
 2 HG00140.hp2
HG01168.hp1
HG00140.hp2
HG01168.hp1
 intron_variant MODIFIER c.458-414G>T
c.458-414G>T
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 6/13 chr8 18063644
chr8:18063705 T
T
 C
C
 1 a0001c0007t0023g0279
a0001c0007t0023g0279
 1 HG02257.hp2
HG02257.hp2
 intron_variant MODIFIER c.458-475A>G
c.458-475A>G
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 6/13 chr8 18063705
chr8:18063721 G
G
 A
A
 153 a0001c0001t0002g0042
a0001c0001t0002g0165
a0001c0001t0002g0166
others(150): Show 
a0001c0001t0002g0042
a0001c0001t0002g0165
a0001c0001t0002g0166
a0001c0001t0002g0173
a0001c0001t0002g0188
a0001c0001t0002g0189
a0001c0001t0002g0191
a0001c0001t0002g0195
a0001c0001t0002g0200
a0001c0001t0002g0201
a0002c0002t0001g0013
a0002c0002t0001g0032
a0002c0002t0001g0136
a0002c0002t0001g0150
a0002c0002t0002g0001
a0002c0002t0002g0008
a0002c0002t0002g0017
a0002c0002t0002g0018
a0002c0002t0002g0021
a0002c0002t0002g0028
a0002c0002t0002g0034
a0002c0002t0002g0035
a0002c0002t0002g0036
a0002c0002t0002g0037
a0002c0002t0002g0038
a0002c0002t0002g0039
a0002c0002t0002g0055
a0002c0002t0002g0092
a0002c0002t0002g0093
a0002c0002t0002g0099
a0002c0002t0002g0100
a0002c0002t0002g0120
a0002c0002t0002g0131
a0002c0002t0002g0132
a0002c0002t0002g0133
a0002c0002t0002g0135
a0002c0002t0002g0137
a0002c0002t0002g0138
a0002c0002t0002g0139
a0002c0002t0002g0140
a0002c0002t0002g0141
a0002c0002t0002g0142
a0002c0002t0002g0143
a0002c0002t0002g0144
a0002c0002t0002g0145
a0002c0002t0002g0146
a0002c0002t0002g0148
a0002c0002t0002g0149
a0002c0002t0002g0151
a0002c0002t0002g0152
a0002c0002t0002g0155
a0002c0002t0002g0156
a0002c0002t0002g0157
a0002c0002t0002g0196
a0002c0002t0002g0209
a0002c0002t0002g0240
a0002c0002t0002g0258
a0002c0002t0002g0285
a0002c0002t0003g0004
a0002c0002t0003g0006
a0002c0002t0003g0025
a0002c0002t0003g0031
a0002c0002t0003g0048
a0002c0002t0003g0049
a0002c0002t0003g0059
a0002c0002t0003g0060
a0002c0002t0003g0061
a0002c0002t0003g0091
a0002c0002t0003g0095
a0002c0002t0003g0096
a0002c0002t0003g0097
a0002c0002t0003g0098
a0002c0002t0003g0101
a0002c0002t0003g0103
a0002c0002t0003g0105
a0002c0002t0003g0106
a0002c0002t0003g0108
a0002c0002t0003g0109
a0002c0002t0003g0110
a0002c0002t0003g0111
a0002c0002t0003g0113
a0002c0002t0003g0115
a0002c0002t0003g0116
a0002c0002t0003g0118
a0002c0002t0003g0134
a0002c0002t0003g0160
a0002c0002t0003g0210
a0002c0002t0003g0232
a0002c0002t0003g0233
a0002c0002t0003g0236
a0002c0002t0003g0237
a0002c0002t0003g0238
a0002c0002t0003g0239
a0002c0002t0003g0244
a0002c0002t0003g0245
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0248
a0002c0002t0003g0250
a0002c0002t0003g0252
a0002c0002t0003g0253
a0002c0002t0003g0255
a0002c0002t0003g0266
a0002c0002t0003g0267
a0002c0002t0003g0273
a0002c0002t0003g0274
a0002c0002t0003g0275
a0002c0002t0004g0112
a0002c0002t0005g0241
a0002c0002t0006g0147
a0002c0002t0019g0243
a0002c0002t0027g0242
a0002c0002t0028g0249
a0002c0002t0029g0107
a0002c0002t0030g0254
a0002c0002t0033g0053
a0002c0002t0035g0286
a0003c0003t0001g0051
a0003c0003t0001g0269
a0003c0003t0002g0223
a0003c0003t0005g0024
a0003c0003t0005g0026
a0003c0003t0005g0056
a0003c0003t0005g0063
a0003c0003t0005g0168
a0003c0003t0005g0206
a0003c0003t0005g0263
a0003c0003t0005g0264
a0003c0003t0005g0265
a0003c0003t0005g0276
a0003c0003t0005g0277
a0003c0003t0008g0022
a0003c0003t0008g0030
a0003c0003t0008g0085
a0003c0003t0008g0086
a0003c0003t0008g0087
a0003c0003t0008g0088
a0003c0003t0009g0014
a0003c0003t0009g0062
a0003c0003t0009g0198
a0003c0003t0009g0199
a0003c0003t0009g0219
a0003c0003t0010g0052
a0003c0003t0010g0164
a0003c0003t0010g0283
a0003c0003t0017g0272
a0003c0003t0024g0282
a0003c0003t0026g0268
a0004c0004t0003g0007
a0004c0004t0003g0114
a0006c0006t0003g0023
a0006c0006t0003g0130
a0006c0006t0003g0234
 227 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(224): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00323.hp1
HG00423.hp2
HG00438.hp1
HG00558.hp1
HG00597.hp1
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00642.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01070.hp2
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01243.hp2
HG01255.hp2
HG01256.hp1
HG01257.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01358.hp1
HG01361.hp2
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01891.hp1
HG01891.hp2
HG01934.hp2
HG01943.hp2
HG01975.hp2
HG01978.hp1
HG02004.hp2
HG02040.hp1
HG02056.hp2
HG02071.hp1
HG02080.hp2
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp2
HG02300.hp2
HG02451.hp2
HG02486.hp1
HG02523.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03492.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp2
HG03688.hp2
HG03704.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp2
HG03942.hp2
HG04115.hp2
HG04204.hp2
HG04228.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18940.hp1
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18944.hp1
NA18947.hp1
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18950.hp1
NA18952.hp1
NA18953.hp2
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp2
NA18959.hp1
NA18960.hp2
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp2
NA18979.hp1
NA18981.hp1
NA18981.hp2
NA18982.hp2
NA18983.hp1
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18988.hp1
NA18991.hp1
NA18991.hp2
NA18992.hp2
NA18993.hp1
NA18998.hp1
NA18999.hp2
NA19001.hp2
NA19004.hp1
NA19007.hp2
NA19010.hp1
NA19011.hp1
NA19043.hp2
NA19054.hp1
NA19055.hp1
NA19056.hp1
NA19057.hp1
NA19058.hp1
NA19060.hp1
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19076.hp2
NA19077.hp1
NA19081.hp2
NA19082.hp1
NA19082.hp2
NA19084.hp1
NA19086.hp2
NA19087.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20752.hp1
NA20805.hp1
NA20805.hp2
NA20905.hp2
NA21309.hp1
 intron_variant MODIFIER c.458-491C>T
c.458-491C>T
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 6/13 chr8 18063721
chr8:18063849 G
G
 T
T
 285 a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0009
others(282): Show 
a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0072
a0001c0001t0001g0102
a0001c0001t0001g0104
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0153
a0001c0001t0001g0158
a0001c0001t0001g0161
a0001c0001t0001g0167
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0187
a0001c0001t0001g0190
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0214
a0001c0001t0001g0226
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0001t0001g0256
a0001c0001t0001g0257
a0001c0001t0001g0259
a0001c0001t0001g0261
a0001c0001t0001g0278
a0001c0001t0001g0284
a0001c0001t0002g0042
a0001c0001t0002g0165
a0001c0001t0002g0166
a0001c0001t0002g0173
a0001c0001t0002g0188
a0001c0001t0002g0189
a0001c0001t0002g0191
a0001c0001t0002g0195
a0001c0001t0002g0200
a0001c0001t0002g0201
a0001c0001t0002g0216
a0001c0001t0002g0220
a0001c0001t0002g0235
a0001c0001t0002g0251
a0001c0001t0003g0159
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0029
a0001c0001t0004g0065
a0001c0001t0004g0066
a0001c0001t0004g0067
a0001c0001t0004g0068
a0001c0001t0004g0069
a0001c0001t0004g0070
a0001c0001t0004g0071
a0001c0001t0004g0079
a0001c0001t0004g0080
a0001c0001t0004g0081
a0001c0001t0004g0083
a0001c0001t0004g0084
a0001c0001t0004g0089
a0001c0001t0004g0090
a0001c0001t0006g0047
a0001c0001t0006g0154
a0001c0001t0006g0215
a0001c0001t0006g0217
a0001c0001t0006g0221
a0001c0001t0006g0222
a0001c0001t0006g0224
a0001c0001t0006g0225
a0001c0001t0006g0227
a0001c0001t0007g0058
a0001c0001t0007g0064
a0001c0001t0007g0073
a0001c0001t0007g0074
a0001c0001t0007g0075
a0001c0001t0007g0077
a0001c0001t0007g0078
a0001c0001t0007g0228
a0001c0001t0007g0229
a0001c0001t0007g0260
a0001c0001t0012g0050
a0001c0001t0012g0262
a0001c0001t0013g0281
a0001c0001t0014g0027
a0001c0001t0015g0162
a0001c0001t0015g0181
a0001c0001t0016g0043
a0001c0001t0020g0076
a0001c0001t0021g0057
a0001c0001t0022g0082
a0001c0001t0031g0117
a0001c0001t0032g0176
a0001c0001t0034g0186
a0001c0007t0023g0279
a0001c0008t0006g0218
a0001c0009t0001g0094
a0002c0002t0001g0013
a0002c0002t0001g0032
a0002c0002t0001g0136
a0002c0002t0001g0150
a0002c0002t0002g0001
a0002c0002t0002g0008
a0002c0002t0002g0017
a0002c0002t0002g0018
a0002c0002t0002g0021
a0002c0002t0002g0028
a0002c0002t0002g0034
a0002c0002t0002g0035
a0002c0002t0002g0036
a0002c0002t0002g0037
a0002c0002t0002g0038
a0002c0002t0002g0039
a0002c0002t0002g0055
a0002c0002t0002g0092
a0002c0002t0002g0093
a0002c0002t0002g0099
a0002c0002t0002g0100
a0002c0002t0002g0120
a0002c0002t0002g0131
a0002c0002t0002g0132
a0002c0002t0002g0133
a0002c0002t0002g0135
a0002c0002t0002g0137
a0002c0002t0002g0138
a0002c0002t0002g0139
a0002c0002t0002g0140
a0002c0002t0002g0141
a0002c0002t0002g0142
a0002c0002t0002g0143
a0002c0002t0002g0144
a0002c0002t0002g0145
a0002c0002t0002g0146
a0002c0002t0002g0148
a0002c0002t0002g0149
a0002c0002t0002g0151
a0002c0002t0002g0152
a0002c0002t0002g0155
a0002c0002t0002g0156
a0002c0002t0002g0157
a0002c0002t0002g0196
a0002c0002t0002g0209
a0002c0002t0002g0240
a0002c0002t0002g0258
a0002c0002t0002g0285
a0002c0002t0003g0004
a0002c0002t0003g0006
a0002c0002t0003g0025
a0002c0002t0003g0031
a0002c0002t0003g0048
a0002c0002t0003g0049
a0002c0002t0003g0059
a0002c0002t0003g0060
a0002c0002t0003g0061
a0002c0002t0003g0091
a0002c0002t0003g0095
a0002c0002t0003g0096
a0002c0002t0003g0097
a0002c0002t0003g0098
a0002c0002t0003g0101
a0002c0002t0003g0103
a0002c0002t0003g0105
a0002c0002t0003g0106
a0002c0002t0003g0108
a0002c0002t0003g0109
a0002c0002t0003g0110
a0002c0002t0003g0111
a0002c0002t0003g0113
a0002c0002t0003g0115
a0002c0002t0003g0116
a0002c0002t0003g0118
a0002c0002t0003g0134
a0002c0002t0003g0160
a0002c0002t0003g0210
a0002c0002t0003g0232
a0002c0002t0003g0233
a0002c0002t0003g0236
a0002c0002t0003g0237
a0002c0002t0003g0238
a0002c0002t0003g0239
a0002c0002t0003g0244
a0002c0002t0003g0245
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0248
a0002c0002t0003g0250
a0002c0002t0003g0252
a0002c0002t0003g0253
a0002c0002t0003g0255
a0002c0002t0003g0266
a0002c0002t0003g0267
a0002c0002t0003g0273
a0002c0002t0003g0274
a0002c0002t0003g0275
a0002c0002t0004g0112
a0002c0002t0005g0241
a0002c0002t0006g0147
a0002c0002t0018g0270
a0002c0002t0019g0243
a0002c0002t0025g0054
a0002c0002t0027g0242
a0002c0002t0028g0249
a0002c0002t0029g0107
a0002c0002t0030g0254
a0002c0002t0033g0053
a0002c0002t0035g0286
a0003c0003t0001g0005
a0003c0003t0001g0012
a0003c0003t0001g0033
a0003c0003t0001g0051
a0003c0003t0001g0119
a0003c0003t0001g0121
a0003c0003t0001g0122
a0003c0003t0001g0125
a0003c0003t0001g0126
a0003c0003t0001g0127
a0003c0003t0001g0129
a0003c0003t0001g0163
a0003c0003t0001g0269
a0003c0003t0001g0280
a0003c0003t0002g0223
a0003c0003t0005g0024
a0003c0003t0005g0026
a0003c0003t0005g0056
a0003c0003t0005g0063
a0003c0003t0005g0168
a0003c0003t0005g0206
a0003c0003t0005g0263
a0003c0003t0005g0264
a0003c0003t0005g0265
a0003c0003t0005g0276
a0003c0003t0005g0277
a0003c0003t0008g0022
a0003c0003t0008g0030
a0003c0003t0008g0085
a0003c0003t0008g0086
a0003c0003t0008g0087
a0003c0003t0008g0088
a0003c0003t0009g0014
a0003c0003t0009g0062
a0003c0003t0009g0198
a0003c0003t0009g0199
a0003c0003t0009g0219
a0003c0003t0010g0052
a0003c0003t0010g0164
a0003c0003t0010g0283
a0003c0003t0013g0271
a0003c0003t0017g0272
a0003c0003t0024g0282
a0003c0003t0026g0268
a0004c0004t0003g0007
a0004c0004t0003g0114
a0005c0005t0001g0213
a0005c0005t0011g0046
a0005c0005t0011g0211
a0005c0005t0011g0212
a0006c0006t0003g0023
a0006c0006t0003g0130
a0006c0006t0003g0234
 419 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(416): 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
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01070.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
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.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
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.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
HG02148.hp1
HG02148.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp1
NA18956.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18986.hp2
NA18988.hp1
NA18988.hp2
NA18991.hp1
NA18991.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18995.hp1
NA18995.hp2
NA18997.hp1
NA18997.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19001.hp1
NA19001.hp2
NA19004.hp1
NA19004.hp2
NA19006.hp1
NA19006.hp2
NA19007.hp1
NA19007.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19055.hp1
NA19055.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19057.hp2
NA19058.hp1
NA19058.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19076.hp1
NA19076.hp2
NA19077.hp1
NA19077.hp2
NA19081.hp1
NA19081.hp2
NA19082.hp1
NA19082.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.457+608C>A
c.457+608C>A
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 6/13 chr8 18063849
chr8:18063874 A
A
 G
G
 1 a0003c0003t0026g0268
a0003c0003t0026g0268
 1 HG02622.hp2
HG02622.hp2
 intron_variant MODIFIER c.457+583T>C
c.457+583T>C
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 6/13 chr8 18063874
chr8:18063943 C
C
 A
A
 14 a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0065
others(11): Show 
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0065
a0001c0001t0004g0066
a0001c0001t0004g0067
a0001c0001t0004g0068
a0001c0001t0004g0069
a0001c0001t0004g0070
a0001c0001t0004g0071
a0001c0001t0004g0083
a0001c0001t0004g0084
a0001c0001t0004g0089
a0001c0001t0004g0090
a0001c0001t0021g0057
 20 HG00438.hp2
HG01257.hp2
HG01361.hp1
others(17): Show 
HG00438.hp2
HG01257.hp2
HG01361.hp1
HG01433.hp1
HG01496.hp1
HG01952.hp1
HG02257.hp1
HG02273.hp1
HG02293.hp2
HG02300.hp1
NA18612.hp1
NA18945.hp2
NA18949.hp2
NA18967.hp2
NA18972.hp1
NA18995.hp1
NA18999.hp1
NA19004.hp2
NA19086.hp1
NA19090.hp2
 intron_variant MODIFIER c.457+514G>T
c.457+514G>T
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 6/13 chr8 18063943
chr8:18064157 C
C
 T
T
 155 a0001c0001t0002g0042
a0001c0001t0002g0165
a0001c0001t0002g0166
others(152): Show 
a0001c0001t0002g0042
a0001c0001t0002g0165
a0001c0001t0002g0166
a0001c0001t0002g0173
a0001c0001t0002g0188
a0001c0001t0002g0189
a0001c0001t0002g0191
a0001c0001t0002g0195
a0001c0001t0002g0200
a0001c0001t0002g0201
a0002c0002t0001g0013
a0002c0002t0001g0032
a0002c0002t0001g0136
a0002c0002t0001g0150
a0002c0002t0002g0001
a0002c0002t0002g0008
a0002c0002t0002g0017
a0002c0002t0002g0018
a0002c0002t0002g0021
a0002c0002t0002g0028
a0002c0002t0002g0034
a0002c0002t0002g0035
a0002c0002t0002g0036
a0002c0002t0002g0037
a0002c0002t0002g0038
a0002c0002t0002g0039
a0002c0002t0002g0055
a0002c0002t0002g0092
a0002c0002t0002g0093
a0002c0002t0002g0099
a0002c0002t0002g0100
a0002c0002t0002g0120
a0002c0002t0002g0131
a0002c0002t0002g0132
a0002c0002t0002g0133
a0002c0002t0002g0135
a0002c0002t0002g0137
a0002c0002t0002g0138
a0002c0002t0002g0139
a0002c0002t0002g0140
a0002c0002t0002g0141
a0002c0002t0002g0142
a0002c0002t0002g0143
a0002c0002t0002g0144
a0002c0002t0002g0145
a0002c0002t0002g0146
a0002c0002t0002g0148
a0002c0002t0002g0149
a0002c0002t0002g0151
a0002c0002t0002g0152
a0002c0002t0002g0155
a0002c0002t0002g0156
a0002c0002t0002g0157
a0002c0002t0002g0196
a0002c0002t0002g0209
a0002c0002t0002g0240
a0002c0002t0002g0258
a0002c0002t0002g0285
a0002c0002t0003g0004
a0002c0002t0003g0006
a0002c0002t0003g0025
a0002c0002t0003g0031
a0002c0002t0003g0048
a0002c0002t0003g0049
a0002c0002t0003g0059
a0002c0002t0003g0060
a0002c0002t0003g0061
a0002c0002t0003g0091
a0002c0002t0003g0095
a0002c0002t0003g0096
a0002c0002t0003g0097
a0002c0002t0003g0098
a0002c0002t0003g0101
a0002c0002t0003g0103
a0002c0002t0003g0105
a0002c0002t0003g0106
a0002c0002t0003g0108
a0002c0002t0003g0109
a0002c0002t0003g0110
a0002c0002t0003g0111
a0002c0002t0003g0113
a0002c0002t0003g0115
a0002c0002t0003g0116
a0002c0002t0003g0118
a0002c0002t0003g0134
a0002c0002t0003g0160
a0002c0002t0003g0210
a0002c0002t0003g0232
a0002c0002t0003g0233
a0002c0002t0003g0236
a0002c0002t0003g0237
a0002c0002t0003g0238
a0002c0002t0003g0239
a0002c0002t0003g0244
a0002c0002t0003g0245
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0248
a0002c0002t0003g0250
a0002c0002t0003g0252
a0002c0002t0003g0253
a0002c0002t0003g0255
a0002c0002t0003g0266
a0002c0002t0003g0267
a0002c0002t0003g0273
a0002c0002t0003g0274
a0002c0002t0003g0275
a0002c0002t0004g0112
a0002c0002t0005g0241
a0002c0002t0006g0147
a0002c0002t0018g0270
a0002c0002t0019g0243
a0002c0002t0025g0054
a0002c0002t0027g0242
a0002c0002t0028g0249
a0002c0002t0029g0107
a0002c0002t0030g0254
a0002c0002t0033g0053
a0002c0002t0035g0286
a0003c0003t0001g0051
a0003c0003t0001g0269
a0003c0003t0002g0223
a0003c0003t0005g0024
a0003c0003t0005g0026
a0003c0003t0005g0056
a0003c0003t0005g0063
a0003c0003t0005g0168
a0003c0003t0005g0206
a0003c0003t0005g0263
a0003c0003t0005g0264
a0003c0003t0005g0265
a0003c0003t0005g0276
a0003c0003t0005g0277
a0003c0003t0008g0022
a0003c0003t0008g0030
a0003c0003t0008g0085
a0003c0003t0008g0086
a0003c0003t0008g0087
a0003c0003t0008g0088
a0003c0003t0009g0014
a0003c0003t0009g0062
a0003c0003t0009g0198
a0003c0003t0009g0199
a0003c0003t0009g0219
a0003c0003t0010g0052
a0003c0003t0010g0164
a0003c0003t0010g0283
a0003c0003t0017g0272
a0003c0003t0024g0282
a0003c0003t0026g0268
a0004c0004t0003g0007
a0004c0004t0003g0114
a0006c0006t0003g0023
a0006c0006t0003g0130
a0006c0006t0003g0234
 229 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(226): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00323.hp1
HG00423.hp2
HG00438.hp1
HG00558.hp1
HG00597.hp1
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00642.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01070.hp2
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01243.hp2
HG01255.hp2
HG01256.hp1
HG01257.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01358.hp1
HG01361.hp2
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01891.hp1
HG01891.hp2
HG01934.hp2
HG01943.hp2
HG01975.hp2
HG01978.hp1
HG02004.hp2
HG02040.hp1
HG02056.hp2
HG02071.hp1
HG02080.hp2
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp2
HG02300.hp2
HG02451.hp2
HG02486.hp1
HG02523.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03492.hp2
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp2
HG03688.hp2
HG03704.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp2
HG03942.hp2
HG04115.hp2
HG04204.hp2
HG04228.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18940.hp1
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18944.hp1
NA18947.hp1
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18950.hp1
NA18952.hp1
NA18953.hp2
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp2
NA18959.hp1
NA18960.hp2
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp2
NA18979.hp1
NA18981.hp1
NA18981.hp2
NA18982.hp2
NA18983.hp1
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18988.hp1
NA18991.hp1
NA18991.hp2
NA18992.hp2
NA18993.hp1
NA18998.hp1
NA18999.hp2
NA19001.hp2
NA19004.hp1
NA19007.hp2
NA19010.hp1
NA19011.hp1
NA19043.hp2
NA19054.hp1
NA19055.hp1
NA19056.hp1
NA19057.hp1
NA19058.hp1
NA19060.hp1
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19076.hp2
NA19077.hp1
NA19081.hp2
NA19082.hp1
NA19082.hp2
NA19084.hp1
NA19086.hp2
NA19087.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20752.hp1
NA20805.hp1
NA20805.hp2
NA20905.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.457+300G>A
c.457+300G>A
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 6/13 chr8 18064157
chr8:18064164 G
G
 T
T
 155 a0001c0001t0002g0042
a0001c0001t0002g0165
a0001c0001t0002g0166
others(152): Show 
a0001c0001t0002g0042
a0001c0001t0002g0165
a0001c0001t0002g0166
a0001c0001t0002g0173
a0001c0001t0002g0188
a0001c0001t0002g0189
a0001c0001t0002g0191
a0001c0001t0002g0195
a0001c0001t0002g0200
a0001c0001t0002g0201
a0002c0002t0001g0013
a0002c0002t0001g0032
a0002c0002t0001g0136
a0002c0002t0001g0150
a0002c0002t0002g0001
a0002c0002t0002g0008
a0002c0002t0002g0017
a0002c0002t0002g0018
a0002c0002t0002g0021
a0002c0002t0002g0028
a0002c0002t0002g0034
a0002c0002t0002g0035
a0002c0002t0002g0036
a0002c0002t0002g0037
a0002c0002t0002g0038
a0002c0002t0002g0039
a0002c0002t0002g0055
a0002c0002t0002g0092
a0002c0002t0002g0093
a0002c0002t0002g0099
a0002c0002t0002g0100
a0002c0002t0002g0120
a0002c0002t0002g0131
a0002c0002t0002g0132
a0002c0002t0002g0133
a0002c0002t0002g0135
a0002c0002t0002g0137
a0002c0002t0002g0138
a0002c0002t0002g0139
a0002c0002t0002g0140
a0002c0002t0002g0141
a0002c0002t0002g0142
a0002c0002t0002g0143
a0002c0002t0002g0144
a0002c0002t0002g0145
a0002c0002t0002g0146
a0002c0002t0002g0148
a0002c0002t0002g0149
a0002c0002t0002g0151
a0002c0002t0002g0152
a0002c0002t0002g0155
a0002c0002t0002g0156
a0002c0002t0002g0157
a0002c0002t0002g0196
a0002c0002t0002g0209
a0002c0002t0002g0240
a0002c0002t0002g0258
a0002c0002t0002g0285
a0002c0002t0003g0004
a0002c0002t0003g0006
a0002c0002t0003g0025
a0002c0002t0003g0031
a0002c0002t0003g0048
a0002c0002t0003g0049
a0002c0002t0003g0059
a0002c0002t0003g0060
a0002c0002t0003g0061
a0002c0002t0003g0091
a0002c0002t0003g0095
a0002c0002t0003g0096
a0002c0002t0003g0097
a0002c0002t0003g0098
a0002c0002t0003g0101
a0002c0002t0003g0103
a0002c0002t0003g0105
a0002c0002t0003g0106
a0002c0002t0003g0108
a0002c0002t0003g0109
a0002c0002t0003g0110
a0002c0002t0003g0111
a0002c0002t0003g0113
a0002c0002t0003g0115
a0002c0002t0003g0116
a0002c0002t0003g0118
a0002c0002t0003g0134
a0002c0002t0003g0160
a0002c0002t0003g0210
a0002c0002t0003g0232
a0002c0002t0003g0233
a0002c0002t0003g0236
a0002c0002t0003g0237
a0002c0002t0003g0238
a0002c0002t0003g0239
a0002c0002t0003g0244
a0002c0002t0003g0245
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0248
a0002c0002t0003g0250
a0002c0002t0003g0252
a0002c0002t0003g0253
a0002c0002t0003g0255
a0002c0002t0003g0266
a0002c0002t0003g0267
a0002c0002t0003g0273
a0002c0002t0003g0274
a0002c0002t0003g0275
a0002c0002t0004g0112
a0002c0002t0005g0241
a0002c0002t0006g0147
a0002c0002t0018g0270
a0002c0002t0019g0243
a0002c0002t0025g0054
a0002c0002t0027g0242
a0002c0002t0028g0249
a0002c0002t0029g0107
a0002c0002t0030g0254
a0002c0002t0033g0053
a0002c0002t0035g0286
a0003c0003t0001g0051
a0003c0003t0001g0269
a0003c0003t0002g0223
a0003c0003t0005g0024
a0003c0003t0005g0026
a0003c0003t0005g0056
a0003c0003t0005g0063
a0003c0003t0005g0168
a0003c0003t0005g0206
a0003c0003t0005g0263
a0003c0003t0005g0264
a0003c0003t0005g0265
a0003c0003t0005g0276
a0003c0003t0005g0277
a0003c0003t0008g0022
a0003c0003t0008g0030
a0003c0003t0008g0085
a0003c0003t0008g0086
a0003c0003t0008g0087
a0003c0003t0008g0088
a0003c0003t0009g0014
a0003c0003t0009g0062
a0003c0003t0009g0198
a0003c0003t0009g0199
a0003c0003t0009g0219
a0003c0003t0010g0052
a0003c0003t0010g0164
a0003c0003t0010g0283
a0003c0003t0017g0272
a0003c0003t0024g0282
a0003c0003t0026g0268
a0004c0004t0003g0007
a0004c0004t0003g0114
a0006c0006t0003g0023
a0006c0006t0003g0130
a0006c0006t0003g0234
 229 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(226): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00323.hp1
HG00423.hp2
HG00438.hp1
HG00558.hp1
HG00597.hp1
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00642.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01070.hp2
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01243.hp2
HG01255.hp2
HG01256.hp1
HG01257.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01358.hp1
HG01361.hp2
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01891.hp1
HG01891.hp2
HG01934.hp2
HG01943.hp2
HG01975.hp2
HG01978.hp1
HG02004.hp2
HG02040.hp1
HG02056.hp2
HG02071.hp1
HG02080.hp2
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp2
HG02300.hp2
HG02451.hp2
HG02486.hp1
HG02523.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03492.hp2
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp2
HG03688.hp2
HG03704.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp2
HG03942.hp2
HG04115.hp2
HG04204.hp2
HG04228.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18940.hp1
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18944.hp1
NA18947.hp1
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18950.hp1
NA18952.hp1
NA18953.hp2
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp2
NA18959.hp1
NA18960.hp2
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp2
NA18979.hp1
NA18981.hp1
NA18981.hp2
NA18982.hp2
NA18983.hp1
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18988.hp1
NA18991.hp1
NA18991.hp2
NA18992.hp2
NA18993.hp1
NA18998.hp1
NA18999.hp2
NA19001.hp2
NA19004.hp1
NA19007.hp2
NA19010.hp1
NA19011.hp1
NA19043.hp2
NA19054.hp1
NA19055.hp1
NA19056.hp1
NA19057.hp1
NA19058.hp1
NA19060.hp1
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19076.hp2
NA19077.hp1
NA19081.hp2
NA19082.hp1
NA19082.hp2
NA19084.hp1
NA19086.hp2
NA19087.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20752.hp1
NA20805.hp1
NA20805.hp2
NA20905.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.457+293C>A
c.457+293C>A
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 6/13 chr8 18064164
chr8:18064301 G
G
 C
C
 85 a0002c0002t0002g0240
a0002c0002t0003g0004
a0002c0002t0003g0006
others(82): Show 
a0002c0002t0002g0240
a0002c0002t0003g0004
a0002c0002t0003g0006
a0002c0002t0003g0025
a0002c0002t0003g0031
a0002c0002t0003g0048
a0002c0002t0003g0049
a0002c0002t0003g0059
a0002c0002t0003g0060
a0002c0002t0003g0061
a0002c0002t0003g0091
a0002c0002t0003g0095
a0002c0002t0003g0096
a0002c0002t0003g0097
a0002c0002t0003g0098
a0002c0002t0003g0101
a0002c0002t0003g0103
a0002c0002t0003g0105
a0002c0002t0003g0106
a0002c0002t0003g0108
a0002c0002t0003g0109
a0002c0002t0003g0110
a0002c0002t0003g0111
a0002c0002t0003g0113
a0002c0002t0003g0115
a0002c0002t0003g0116
a0002c0002t0003g0118
a0002c0002t0003g0134
a0002c0002t0003g0160
a0002c0002t0003g0210
a0002c0002t0003g0232
a0002c0002t0003g0233
a0002c0002t0003g0236
a0002c0002t0003g0237
a0002c0002t0003g0238
a0002c0002t0003g0239
a0002c0002t0003g0244
a0002c0002t0003g0245
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0248
a0002c0002t0003g0250
a0002c0002t0003g0252
a0002c0002t0003g0253
a0002c0002t0003g0255
a0002c0002t0003g0266
a0002c0002t0003g0267
a0002c0002t0003g0273
a0002c0002t0003g0274
a0002c0002t0003g0275
a0002c0002t0004g0112
a0002c0002t0005g0241
a0002c0002t0019g0243
a0002c0002t0027g0242
a0002c0002t0028g0249
a0002c0002t0029g0107
a0002c0002t0030g0254
a0003c0003t0002g0223
a0003c0003t0005g0024
a0003c0003t0005g0026
a0003c0003t0005g0056
a0003c0003t0005g0063
a0003c0003t0005g0168
a0003c0003t0005g0206
a0003c0003t0005g0263
a0003c0003t0005g0264
a0003c0003t0005g0265
a0003c0003t0005g0276
a0003c0003t0005g0277
a0003c0003t0008g0022
a0003c0003t0008g0030
a0003c0003t0008g0085
a0003c0003t0008g0086
a0003c0003t0008g0087
a0003c0003t0008g0088
a0003c0003t0010g0052
a0003c0003t0010g0164
a0003c0003t0010g0283
a0003c0003t0024g0282
a0003c0003t0026g0268
a0004c0004t0003g0007
a0004c0004t0003g0114
a0006c0006t0003g0023
a0006c0006t0003g0130
a0006c0006t0003g0234
 117 HG00423.hp2
HG00438.hp1
HG00558.hp1
others(114): Show 
HG00423.hp2
HG00438.hp1
HG00558.hp1
HG00597.hp1
HG00621.hp1
HG00621.hp2
HG01099.hp1
HG01106.hp2
HG01358.hp1
HG01884.hp1
HG01891.hp1
HG01891.hp2
HG01943.hp2
HG01975.hp2
HG02040.hp1
HG02083.hp2
HG02109.hp1
HG02145.hp2
HG02148.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp2
HG02559.hp1
HG02572.hp2
HG02602.hp1
HG02622.hp2
HG02630.hp2
HG02647.hp1
HG02717.hp1
HG02717.hp2
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02976.hp1
HG03041.hp1
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03225.hp2
HG03239.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03491.hp1
HG03579.hp1
HG03579.hp2
HG03669.hp2
HG03704.hp1
HG03831.hp1
HG03834.hp2
HG04115.hp2
HG04204.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18941.hp2
NA18943.hp1
NA18944.hp1
NA18947.hp1
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18950.hp1
NA18952.hp1
NA18953.hp2
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp2
NA18960.hp2
NA18962.hp2
NA18965.hp2
NA18966.hp1
NA18977.hp2
NA18978.hp2
NA18979.hp1
NA18981.hp2
NA18984.hp1
NA18986.hp1
NA18988.hp1
NA18991.hp1
NA18991.hp2
NA18992.hp2
NA18998.hp1
NA18999.hp2
NA19001.hp2
NA19004.hp1
NA19007.hp2
NA19010.hp1
NA19011.hp1
NA19043.hp2
NA19055.hp1
NA19057.hp1
NA19063.hp2
NA19064.hp1
NA19067.hp1
NA19068.hp1
NA19081.hp2
NA19082.hp1
NA19084.hp1
NA19087.hp1
NA19088.hp2
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20752.hp1
NA20905.hp2
 intron_variant MODIFIER c.457+156C>G
c.457+156C>G
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 6/13 chr8 18064301
chr8:18064319 A
A
 G
G
 1 a0001c0007t0023g0279
a0001c0007t0023g0279
 1 HG02257.hp2
HG02257.hp2
 intron_variant MODIFIER c.457+138T>C
c.457+138T>C
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 6/13 chr8 18064319
chr8:18064344 A
A
 G
G
 1 a0001c0001t0007g0078
a0001c0001t0007g0078
 1 HG01884.hp2
HG01884.hp2
 intron_variant MODIFIER c.457+113T>C
c.457+113T>C
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 6/13 chr8 18064344
chr8:18064364 G
G
 C
C
 1 a0003c0003t0013g0271
a0003c0003t0013g0271
 1 HG02451.hp1
HG02451.hp1
 intron_variant MODIFIER c.457+93C>G
c.457+93C>G
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 6/13 chr8 18064364
chr8:18064412 T
T
 C
C
 148 a0001c0001t0002g0042
a0001c0001t0002g0165
a0001c0001t0002g0166
others(145): Show 
a0001c0001t0002g0042
a0001c0001t0002g0165
a0001c0001t0002g0166
a0001c0001t0002g0173
a0001c0001t0002g0188
a0001c0001t0002g0189
a0001c0001t0002g0191
a0001c0001t0002g0195
a0001c0001t0002g0200
a0001c0001t0002g0201
a0001c0007t0023g0279
a0002c0002t0001g0013
a0002c0002t0001g0032
a0002c0002t0001g0136
a0002c0002t0001g0150
a0002c0002t0002g0001
a0002c0002t0002g0008
a0002c0002t0002g0017
a0002c0002t0002g0018
a0002c0002t0002g0021
a0002c0002t0002g0028
a0002c0002t0002g0034
a0002c0002t0002g0035
a0002c0002t0002g0036
a0002c0002t0002g0037
a0002c0002t0002g0038
a0002c0002t0002g0039
a0002c0002t0002g0055
a0002c0002t0002g0092
a0002c0002t0002g0093
a0002c0002t0002g0099
a0002c0002t0002g0100
a0002c0002t0002g0120
a0002c0002t0002g0131
a0002c0002t0002g0132
a0002c0002t0002g0133
a0002c0002t0002g0135
a0002c0002t0002g0137
a0002c0002t0002g0138
a0002c0002t0002g0139
a0002c0002t0002g0140
a0002c0002t0002g0141
a0002c0002t0002g0142
a0002c0002t0002g0143
a0002c0002t0002g0144
a0002c0002t0002g0145
a0002c0002t0002g0146
a0002c0002t0002g0148
a0002c0002t0002g0149
a0002c0002t0002g0151
a0002c0002t0002g0152
a0002c0002t0002g0155
a0002c0002t0002g0156
a0002c0002t0002g0157
a0002c0002t0002g0196
a0002c0002t0002g0209
a0002c0002t0002g0240
a0002c0002t0002g0258
a0002c0002t0002g0285
a0002c0002t0003g0004
a0002c0002t0003g0006
a0002c0002t0003g0025
a0002c0002t0003g0031
a0002c0002t0003g0048
a0002c0002t0003g0049
a0002c0002t0003g0059
a0002c0002t0003g0060
a0002c0002t0003g0061
a0002c0002t0003g0091
a0002c0002t0003g0095
a0002c0002t0003g0096
a0002c0002t0003g0097
a0002c0002t0003g0098
a0002c0002t0003g0101
a0002c0002t0003g0103
a0002c0002t0003g0105
a0002c0002t0003g0106
a0002c0002t0003g0108
a0002c0002t0003g0109
a0002c0002t0003g0110
a0002c0002t0003g0111
a0002c0002t0003g0113
a0002c0002t0003g0115
a0002c0002t0003g0116
a0002c0002t0003g0118
a0002c0002t0003g0134
a0002c0002t0003g0160
a0002c0002t0003g0210
a0002c0002t0003g0232
a0002c0002t0003g0233
a0002c0002t0003g0236
a0002c0002t0003g0237
a0002c0002t0003g0238
a0002c0002t0003g0239
a0002c0002t0003g0244
a0002c0002t0003g0245
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0248
a0002c0002t0003g0250
a0002c0002t0003g0252
a0002c0002t0003g0253
a0002c0002t0003g0255
a0002c0002t0003g0266
a0002c0002t0003g0267
a0002c0002t0003g0273
a0002c0002t0003g0274
a0002c0002t0003g0275
a0002c0002t0004g0112
a0002c0002t0005g0241
a0002c0002t0006g0147
a0002c0002t0018g0270
a0002c0002t0019g0243
a0002c0002t0025g0054
a0002c0002t0027g0242
a0002c0002t0028g0249
a0002c0002t0029g0107
a0002c0002t0030g0254
a0002c0002t0033g0053
a0002c0002t0035g0286
a0003c0003t0002g0223
a0003c0003t0005g0024
a0003c0003t0005g0026
a0003c0003t0005g0056
a0003c0003t0005g0063
a0003c0003t0005g0168
a0003c0003t0005g0206
a0003c0003t0005g0263
a0003c0003t0005g0264
a0003c0003t0005g0265
a0003c0003t0005g0276
a0003c0003t0005g0277
a0003c0003t0008g0022
a0003c0003t0008g0030
a0003c0003t0008g0085
a0003c0003t0008g0086
a0003c0003t0008g0087
a0003c0003t0008g0088
a0003c0003t0010g0052
a0003c0003t0010g0164
a0003c0003t0010g0283
a0003c0003t0024g0282
a0003c0003t0026g0268
a0004c0004t0003g0007
a0004c0004t0003g0114
a0006c0006t0003g0023
a0006c0006t0003g0130
a0006c0006t0003g0234
 218 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(215): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00323.hp1
HG00423.hp2
HG00438.hp1
HG00558.hp1
HG00597.hp1
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00642.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01070.hp2
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01243.hp2
HG01255.hp2
HG01256.hp1
HG01257.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01358.hp1
HG01361.hp2
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01891.hp1
HG01891.hp2
HG01934.hp2
HG01943.hp2
HG01975.hp2
HG01978.hp1
HG02004.hp2
HG02040.hp1
HG02056.hp2
HG02071.hp1
HG02080.hp2
HG02083.hp2
HG02109.hp1
HG02129.hp2
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02165.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp2
HG02300.hp2
HG02451.hp2
HG02486.hp1
HG02523.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02647.hp1
HG02717.hp1
HG02717.hp2
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03492.hp2
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp2
HG03688.hp2
HG03704.hp1
HG03831.hp1
HG03831.hp2
HG03834.hp2
HG03942.hp2
HG04115.hp2
HG04204.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18940.hp1
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18944.hp1
NA18947.hp1
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18950.hp1
NA18952.hp1
NA18953.hp2
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp2
NA18959.hp1
NA18960.hp2
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp2
NA18979.hp1
NA18981.hp1
NA18981.hp2
NA18982.hp2
NA18983.hp1
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18988.hp1
NA18991.hp1
NA18991.hp2
NA18992.hp2
NA18993.hp1
NA18998.hp1
NA18999.hp2
NA19001.hp2
NA19004.hp1
NA19007.hp2
NA19010.hp1
NA19011.hp1
NA19043.hp2
NA19054.hp1
NA19055.hp1
NA19056.hp1
NA19057.hp1
NA19058.hp1
NA19060.hp1
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19076.hp2
NA19077.hp1
NA19081.hp2
NA19082.hp1
NA19082.hp2
NA19084.hp1
NA19086.hp2
NA19087.hp1
NA19088.hp2
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20752.hp1
NA20805.hp1
NA20805.hp2
NA20905.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.457+45A>G
c.457+45A>G
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 6/13 chr8 18064412
chr8:18064598 G
G
 A
A
 1 a0003c0003t0013g0271
a0003c0003t0013g0271
 1 HG02451.hp1
HG02451.hp1
 intron_variant MODIFIER c.383-67C>T
c.383-67C>T
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 5/13 chr8 18064598
chr8:18064603 AGTTTCAG
others(1): Show 
AGTTTCAGT
 A
A
 4 a0003c0003t0005g0024
a0003c0003t0005g0263
a0003c0003t0005g0264
others(1): Show 
a0003c0003t0005g0024
a0003c0003t0005g0263
a0003c0003t0005g0264
a0003c0003t0005g0265
 6 HG02258.hp1
HG02559.hp1
HG02647.hp1
others(3): Show 
HG02258.hp1
HG02559.hp1
HG02647.hp1
HG03041.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.383-80_383-73delAC
others(6): Show 
c.383-80_383-73delACTGAAAC
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 5/13 chr8 18064603
chr8:18064620 T
T
 C
C
 1 a0001c0001t0013g0281
a0001c0001t0013g0281
 1 HG02976.hp2
HG02976.hp2
 intron_variant MODIFIER c.383-89A>G
c.383-89A>G
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 5/13 chr8 18064620
chr8:18064645 G
G
 A
A
 30 a0001c0001t0002g0251
a0001c0001t0004g0010
a0001c0001t0004g0011
others(27): Show 
a0001c0001t0002g0251
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0029
a0001c0001t0004g0066
a0001c0001t0004g0067
a0001c0001t0004g0068
a0001c0001t0004g0069
a0001c0001t0004g0071
a0001c0001t0004g0079
a0001c0001t0004g0080
a0001c0001t0004g0081
a0001c0001t0004g0083
a0001c0001t0004g0084
a0001c0001t0004g0089
a0001c0001t0004g0090
a0001c0001t0007g0058
a0001c0001t0007g0064
a0001c0001t0007g0073
a0001c0001t0007g0074
a0001c0001t0007g0075
a0001c0001t0007g0077
a0001c0001t0007g0078
a0001c0001t0007g0228
a0001c0001t0007g0229
a0001c0001t0007g0260
a0001c0001t0020g0076
a0001c0001t0021g0057
a0001c0001t0022g0082
a0003c0003t0013g0271
 37 HG00323.hp2
HG01167.hp1
HG01169.hp1
others(34): Show 
HG00323.hp2
HG01167.hp1
HG01169.hp1
HG01257.hp2
HG01261.hp1
HG01361.hp1
HG01433.hp1
HG01496.hp1
HG01884.hp2
HG01952.hp1
HG02027.hp2
HG02083.hp1
HG02257.hp1
HG02273.hp1
HG02293.hp2
HG02300.hp1
HG02451.hp1
HG02615.hp1
HG02630.hp1
HG03041.hp2
HG03195.hp1
HG03225.hp1
HG03540.hp1
HG04115.hp1
HG04204.hp1
HG06807.hp1
NA18612.hp1
NA18945.hp2
NA18949.hp2
NA18967.hp2
NA18972.hp1
NA18995.hp1
NA18999.hp1
NA19043.hp1
NA19054.hp2
NA19086.hp1
NA19090.hp2
 intron_variant MODIFIER c.383-114C>T
c.383-114C>T
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 5/13 chr8 18064645
chr8:18064652 T
T
 C
C
 4 a0002c0002t0002g0028
a0002c0002t0002g0055
a0002c0002t0002g0258
others(1): Show 
a0002c0002t0002g0028
a0002c0002t0002g0055
a0002c0002t0002g0258
a0002c0002t0033g0053
 5 HG02559.hp2
HG02965.hp1
HG03098.hp2
others(2): Show 
HG02559.hp2
HG02965.hp1
HG03098.hp2
HG03486.hp1
HG03486.hp2
 intron_variant MODIFIER c.383-121A>G
c.383-121A>G
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 5/13 chr8 18064652
chr8:18064664 C
C
 T
T
 2 a0003c0003t0001g0051
a0003c0003t0001g0269
a0003c0003t0001g0051
a0003c0003t0001g0269
 3 HG02683.hp2
HG02735.hp2
HG04228.hp1
HG02683.hp2
HG02735.hp2
HG04228.hp1
 intron_variant MODIFIER c.383-133G>A
c.383-133G>A
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 5/13 chr8 18064664
chr8:18064744 C
C
 T
T
 1 a0003c0003t0013g0271
a0003c0003t0013g0271
 1 HG02451.hp1
HG02451.hp1
 intron_variant MODIFIER c.383-213G>A
c.383-213G>A
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 5/13 chr8 18064744
chr8:18064778 C
C
 T
T
 2 a0002c0002t0018g0270
a0002c0002t0025g0054
a0002c0002t0018g0270
a0002c0002t0025g0054
 2 HG03540.hp2
NA21309.hp2
HG03540.hp2
NA21309.hp2
 intron_variant MODIFIER c.383-247G>A
c.383-247G>A
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 5/13 chr8 18064778
chr8:18064819 G
G
 C
C
 1 a0001c0007t0023g0279
a0001c0007t0023g0279
 1 HG02257.hp2
HG02257.hp2
 intron_variant MODIFIER c.383-288C>G
c.383-288C>G
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 5/13 chr8 18064819
chr8:18064887 T
T
 C
C
 155 a0001c0001t0002g0042
a0001c0001t0002g0165
a0001c0001t0002g0166
others(152): Show 
a0001c0001t0002g0042
a0001c0001t0002g0165
a0001c0001t0002g0166
a0001c0001t0002g0173
a0001c0001t0002g0188
a0001c0001t0002g0189
a0001c0001t0002g0191
a0001c0001t0002g0195
a0001c0001t0002g0200
a0001c0001t0002g0201
a0001c0007t0023g0279
a0002c0002t0001g0013
a0002c0002t0001g0032
a0002c0002t0001g0136
a0002c0002t0001g0150
a0002c0002t0002g0001
a0002c0002t0002g0008
a0002c0002t0002g0017
a0002c0002t0002g0018
a0002c0002t0002g0021
a0002c0002t0002g0028
a0002c0002t0002g0034
a0002c0002t0002g0035
a0002c0002t0002g0036
a0002c0002t0002g0037
a0002c0002t0002g0038
a0002c0002t0002g0039
a0002c0002t0002g0055
a0002c0002t0002g0092
a0002c0002t0002g0093
a0002c0002t0002g0099
a0002c0002t0002g0100
a0002c0002t0002g0120
a0002c0002t0002g0131
a0002c0002t0002g0132
a0002c0002t0002g0133
a0002c0002t0002g0135
a0002c0002t0002g0137
a0002c0002t0002g0138
a0002c0002t0002g0139
a0002c0002t0002g0140
a0002c0002t0002g0141
a0002c0002t0002g0142
a0002c0002t0002g0143
a0002c0002t0002g0144
a0002c0002t0002g0145
a0002c0002t0002g0146
a0002c0002t0002g0148
a0002c0002t0002g0149
a0002c0002t0002g0151
a0002c0002t0002g0152
a0002c0002t0002g0155
a0002c0002t0002g0156
a0002c0002t0002g0157
a0002c0002t0002g0196
a0002c0002t0002g0209
a0002c0002t0002g0240
a0002c0002t0002g0258
a0002c0002t0002g0285
a0002c0002t0003g0004
a0002c0002t0003g0006
a0002c0002t0003g0025
a0002c0002t0003g0031
a0002c0002t0003g0048
a0002c0002t0003g0049
a0002c0002t0003g0059
a0002c0002t0003g0060
a0002c0002t0003g0061
a0002c0002t0003g0091
a0002c0002t0003g0095
a0002c0002t0003g0096
a0002c0002t0003g0097
a0002c0002t0003g0098
a0002c0002t0003g0101
a0002c0002t0003g0103
a0002c0002t0003g0105
a0002c0002t0003g0106
a0002c0002t0003g0108
a0002c0002t0003g0109
a0002c0002t0003g0110
a0002c0002t0003g0111
a0002c0002t0003g0113
a0002c0002t0003g0115
a0002c0002t0003g0116
a0002c0002t0003g0118
a0002c0002t0003g0134
a0002c0002t0003g0160
a0002c0002t0003g0210
a0002c0002t0003g0232
a0002c0002t0003g0233
a0002c0002t0003g0236
a0002c0002t0003g0237
a0002c0002t0003g0238
a0002c0002t0003g0239
a0002c0002t0003g0244
a0002c0002t0003g0245
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0248
a0002c0002t0003g0250
a0002c0002t0003g0252
a0002c0002t0003g0253
a0002c0002t0003g0255
a0002c0002t0003g0266
a0002c0002t0003g0267
a0002c0002t0003g0273
a0002c0002t0003g0274
a0002c0002t0003g0275
a0002c0002t0004g0112
a0002c0002t0005g0241
a0002c0002t0006g0147
a0002c0002t0018g0270
a0002c0002t0019g0243
a0002c0002t0025g0054
a0002c0002t0027g0242
a0002c0002t0028g0249
a0002c0002t0029g0107
a0002c0002t0030g0254
a0002c0002t0033g0053
a0002c0002t0035g0286
a0003c0003t0001g0051
a0003c0003t0001g0269
a0003c0003t0002g0223
a0003c0003t0005g0024
a0003c0003t0005g0026
a0003c0003t0005g0056
a0003c0003t0005g0063
a0003c0003t0005g0168
a0003c0003t0005g0206
a0003c0003t0005g0263
a0003c0003t0005g0264
a0003c0003t0005g0265
a0003c0003t0005g0276
a0003c0003t0008g0022
a0003c0003t0008g0030
a0003c0003t0008g0085
a0003c0003t0008g0086
a0003c0003t0008g0087
a0003c0003t0008g0088
a0003c0003t0009g0014
a0003c0003t0009g0062
a0003c0003t0009g0198
a0003c0003t0009g0199
a0003c0003t0009g0219
a0003c0003t0010g0052
a0003c0003t0010g0164
a0003c0003t0010g0283
a0003c0003t0017g0272
a0003c0003t0024g0282
a0003c0003t0026g0268
a0004c0004t0003g0007
a0004c0004t0003g0114
a0006c0006t0003g0023
a0006c0006t0003g0130
a0006c0006t0003g0234
 229 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(226): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00323.hp1
HG00423.hp2
HG00438.hp1
HG00558.hp1
HG00597.hp1
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00642.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01070.hp2
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01243.hp2
HG01255.hp2
HG01256.hp1
HG01257.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01358.hp1
HG01361.hp2
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01891.hp1
HG01891.hp2
HG01934.hp2
HG01943.hp2
HG01975.hp2
HG01978.hp1
HG02004.hp2
HG02040.hp1
HG02056.hp2
HG02071.hp1
HG02080.hp2
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02165.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp2
HG02300.hp2
HG02451.hp2
HG02486.hp1
HG02523.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03492.hp2
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp2
HG03688.hp2
HG03704.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp2
HG03942.hp2
HG04115.hp2
HG04204.hp2
HG04228.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18940.hp1
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18944.hp1
NA18947.hp1
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18950.hp1
NA18952.hp1
NA18953.hp2
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp2
NA18959.hp1
NA18960.hp2
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp2
NA18979.hp1
NA18981.hp1
NA18981.hp2
NA18982.hp2
NA18983.hp1
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18988.hp1
NA18991.hp1
NA18991.hp2
NA18992.hp2
NA18993.hp1
NA18998.hp1
NA18999.hp2
NA19001.hp2
NA19004.hp1
NA19007.hp2
NA19010.hp1
NA19011.hp1
NA19043.hp2
NA19054.hp1
NA19055.hp1
NA19056.hp1
NA19057.hp1
NA19058.hp1
NA19060.hp1
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19076.hp2
NA19077.hp1
NA19081.hp2
NA19082.hp1
NA19082.hp2
NA19084.hp1
NA19086.hp2
NA19087.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20752.hp1
NA20805.hp1
NA20805.hp2
NA20905.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.383-356A>G
c.383-356A>G
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 5/13 chr8 18064887
chr8:18064905 A
A
 G
G
 148 a0001c0001t0002g0042
a0001c0001t0002g0165
a0001c0001t0002g0166
others(145): Show 
a0001c0001t0002g0042
a0001c0001t0002g0165
a0001c0001t0002g0166
a0001c0001t0002g0173
a0001c0001t0002g0188
a0001c0001t0002g0189
a0001c0001t0002g0191
a0001c0001t0002g0195
a0001c0001t0002g0200
a0001c0001t0002g0201
a0001c0007t0023g0279
a0002c0002t0001g0013
a0002c0002t0001g0032
a0002c0002t0001g0136
a0002c0002t0001g0150
a0002c0002t0002g0001
a0002c0002t0002g0008
a0002c0002t0002g0017
a0002c0002t0002g0018
a0002c0002t0002g0021
a0002c0002t0002g0028
a0002c0002t0002g0034
a0002c0002t0002g0035
a0002c0002t0002g0036
a0002c0002t0002g0037
a0002c0002t0002g0038
a0002c0002t0002g0039
a0002c0002t0002g0055
a0002c0002t0002g0092
a0002c0002t0002g0093
a0002c0002t0002g0099
a0002c0002t0002g0100
a0002c0002t0002g0120
a0002c0002t0002g0131
a0002c0002t0002g0132
a0002c0002t0002g0133
a0002c0002t0002g0135
a0002c0002t0002g0137
a0002c0002t0002g0138
a0002c0002t0002g0139
a0002c0002t0002g0140
a0002c0002t0002g0141
a0002c0002t0002g0142
a0002c0002t0002g0143
a0002c0002t0002g0144
a0002c0002t0002g0145
a0002c0002t0002g0146
a0002c0002t0002g0148
a0002c0002t0002g0149
a0002c0002t0002g0151
a0002c0002t0002g0152
a0002c0002t0002g0155
a0002c0002t0002g0156
a0002c0002t0002g0157
a0002c0002t0002g0196
a0002c0002t0002g0209
a0002c0002t0002g0240
a0002c0002t0002g0258
a0002c0002t0002g0285
a0002c0002t0003g0004
a0002c0002t0003g0006
a0002c0002t0003g0025
a0002c0002t0003g0031
a0002c0002t0003g0048
a0002c0002t0003g0049
a0002c0002t0003g0059
a0002c0002t0003g0060
a0002c0002t0003g0061
a0002c0002t0003g0091
a0002c0002t0003g0095
a0002c0002t0003g0096
a0002c0002t0003g0097
a0002c0002t0003g0098
a0002c0002t0003g0101
a0002c0002t0003g0103
a0002c0002t0003g0105
a0002c0002t0003g0106
a0002c0002t0003g0108
a0002c0002t0003g0109
a0002c0002t0003g0110
a0002c0002t0003g0111
a0002c0002t0003g0113
a0002c0002t0003g0115
a0002c0002t0003g0116
a0002c0002t0003g0118
a0002c0002t0003g0134
a0002c0002t0003g0160
a0002c0002t0003g0210
a0002c0002t0003g0232
a0002c0002t0003g0233
a0002c0002t0003g0236
a0002c0002t0003g0237
a0002c0002t0003g0238
a0002c0002t0003g0239
a0002c0002t0003g0244
a0002c0002t0003g0245
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0248
a0002c0002t0003g0250
a0002c0002t0003g0252
a0002c0002t0003g0253
a0002c0002t0003g0255
a0002c0002t0003g0266
a0002c0002t0003g0267
a0002c0002t0003g0273
a0002c0002t0003g0274
a0002c0002t0003g0275
a0002c0002t0004g0112
a0002c0002t0005g0241
a0002c0002t0006g0147
a0002c0002t0018g0270
a0002c0002t0019g0243
a0002c0002t0025g0054
a0002c0002t0027g0242
a0002c0002t0028g0249
a0002c0002t0029g0107
a0002c0002t0030g0254
a0002c0002t0033g0053
a0002c0002t0035g0286
a0003c0003t0002g0223
a0003c0003t0005g0024
a0003c0003t0005g0026
a0003c0003t0005g0056
a0003c0003t0005g0063
a0003c0003t0005g0168
a0003c0003t0005g0206
a0003c0003t0005g0263
a0003c0003t0005g0264
a0003c0003t0005g0265
a0003c0003t0005g0276
a0003c0003t0005g0277
a0003c0003t0008g0022
a0003c0003t0008g0030
a0003c0003t0008g0085
a0003c0003t0008g0086
a0003c0003t0008g0087
a0003c0003t0008g0088
a0003c0003t0010g0052
a0003c0003t0010g0164
a0003c0003t0010g0283
a0003c0003t0024g0282
a0003c0003t0026g0268
a0004c0004t0003g0007
a0004c0004t0003g0114
a0006c0006t0003g0023
a0006c0006t0003g0130
a0006c0006t0003g0234
 218 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(215): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00323.hp1
HG00423.hp2
HG00438.hp1
HG00558.hp1
HG00597.hp1
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00642.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01070.hp2
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01243.hp2
HG01255.hp2
HG01256.hp1
HG01257.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01358.hp1
HG01361.hp2
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01891.hp1
HG01891.hp2
HG01934.hp2
HG01943.hp2
HG01975.hp2
HG01978.hp1
HG02004.hp2
HG02040.hp1
HG02056.hp2
HG02071.hp1
HG02080.hp2
HG02083.hp2
HG02109.hp1
HG02129.hp2
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02165.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp2
HG02300.hp2
HG02451.hp2
HG02486.hp1
HG02523.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02647.hp1
HG02717.hp1
HG02717.hp2
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03492.hp2
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp2
HG03688.hp2
HG03704.hp1
HG03831.hp1
HG03831.hp2
HG03834.hp2
HG03942.hp2
HG04115.hp2
HG04204.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18940.hp1
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18944.hp1
NA18947.hp1
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18950.hp1
NA18952.hp1
NA18953.hp2
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp2
NA18959.hp1
NA18960.hp2
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp2
NA18979.hp1
NA18981.hp1
NA18981.hp2
NA18982.hp2
NA18983.hp1
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18988.hp1
NA18991.hp1
NA18991.hp2
NA18992.hp2
NA18993.hp1
NA18998.hp1
NA18999.hp2
NA19001.hp2
NA19004.hp1
NA19007.hp2
NA19010.hp1
NA19011.hp1
NA19043.hp2
NA19054.hp1
NA19055.hp1
NA19056.hp1
NA19057.hp1
NA19058.hp1
NA19060.hp1
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19076.hp2
NA19077.hp1
NA19081.hp2
NA19082.hp1
NA19082.hp2
NA19084.hp1
NA19086.hp2
NA19087.hp1
NA19088.hp2
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20752.hp1
NA20805.hp1
NA20805.hp2
NA20905.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.383-374T>C
c.383-374T>C
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 5/13 chr8 18064905
chr8:18064943 C
C
 T
T
 2 a0001c0001t0002g0220
a0001c0001t0002g0235
a0001c0001t0002g0220
a0001c0001t0002g0235
 2 HG02896.hp2
HG03209.hp1
HG02896.hp2
HG03209.hp1
 intron_variant MODIFIER c.383-412G>A
c.383-412G>A
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 5/13 chr8 18064943
chr8:18065165 G
G
 C
C
 1 a0001c0001t0001g0171
a0001c0001t0001g0171
 1 HG01993.hp1
HG01993.hp1
 intron_variant MODIFIER c.383-634C>G
c.383-634C>G
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 5/13 chr8 18065165
chr8:18065179 T
T
 C
C
 1 a0002c0002t0002g0028
a0002c0002t0002g0028
 2 HG03098.hp2
HG03486.hp1
HG03098.hp2
HG03486.hp1
 intron_variant MODIFIER c.383-648A>G
c.383-648A>G
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 5/13 chr8 18065179
chr8:18065376 G
G
 T
T
 184 a0001c0001t0002g0195
a0001c0001t0002g0200
a0001c0001t0002g0251
others(181): Show 
a0001c0001t0002g0195
a0001c0001t0002g0200
a0001c0001t0002g0251
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0029
a0001c0001t0004g0065
a0001c0001t0004g0066
a0001c0001t0004g0067
a0001c0001t0004g0068
a0001c0001t0004g0069
a0001c0001t0004g0070
a0001c0001t0004g0071
a0001c0001t0004g0079
a0001c0001t0004g0080
a0001c0001t0004g0081
a0001c0001t0004g0083
a0001c0001t0004g0084
a0001c0001t0004g0089
a0001c0001t0004g0090
a0001c0001t0007g0058
a0001c0001t0007g0064
a0001c0001t0007g0073
a0001c0001t0007g0074
a0001c0001t0007g0075
a0001c0001t0007g0077
a0001c0001t0007g0078
a0001c0001t0007g0228
a0001c0001t0007g0229
a0001c0001t0007g0260
a0001c0001t0013g0281
a0001c0001t0020g0076
a0001c0001t0021g0057
a0001c0001t0022g0082
a0001c0007t0023g0279
a0002c0002t0001g0013
a0002c0002t0001g0032
a0002c0002t0001g0136
a0002c0002t0001g0150
a0002c0002t0002g0001
a0002c0002t0002g0008
a0002c0002t0002g0017
a0002c0002t0002g0018
a0002c0002t0002g0021
a0002c0002t0002g0028
a0002c0002t0002g0034
a0002c0002t0002g0035
a0002c0002t0002g0036
a0002c0002t0002g0037
a0002c0002t0002g0038
a0002c0002t0002g0039
a0002c0002t0002g0055
a0002c0002t0002g0092
a0002c0002t0002g0093
a0002c0002t0002g0099
a0002c0002t0002g0100
a0002c0002t0002g0120
a0002c0002t0002g0131
a0002c0002t0002g0132
a0002c0002t0002g0133
a0002c0002t0002g0135
a0002c0002t0002g0137
a0002c0002t0002g0138
a0002c0002t0002g0139
a0002c0002t0002g0140
a0002c0002t0002g0141
a0002c0002t0002g0142
a0002c0002t0002g0143
a0002c0002t0002g0144
a0002c0002t0002g0145
a0002c0002t0002g0146
a0002c0002t0002g0148
a0002c0002t0002g0149
a0002c0002t0002g0151
a0002c0002t0002g0152
a0002c0002t0002g0155
a0002c0002t0002g0156
a0002c0002t0002g0157
a0002c0002t0002g0196
a0002c0002t0002g0209
a0002c0002t0002g0240
a0002c0002t0002g0258
a0002c0002t0002g0285
a0002c0002t0003g0004
a0002c0002t0003g0006
a0002c0002t0003g0025
a0002c0002t0003g0031
a0002c0002t0003g0048
a0002c0002t0003g0049
a0002c0002t0003g0059
a0002c0002t0003g0060
a0002c0002t0003g0061
a0002c0002t0003g0091
a0002c0002t0003g0095
a0002c0002t0003g0096
a0002c0002t0003g0097
a0002c0002t0003g0098
a0002c0002t0003g0101
a0002c0002t0003g0103
a0002c0002t0003g0105
a0002c0002t0003g0106
a0002c0002t0003g0108
a0002c0002t0003g0109
a0002c0002t0003g0111
a0002c0002t0003g0113
a0002c0002t0003g0115
a0002c0002t0003g0116
a0002c0002t0003g0118
a0002c0002t0003g0134
a0002c0002t0003g0160
a0002c0002t0003g0210
a0002c0002t0003g0232
a0002c0002t0003g0233
a0002c0002t0003g0236
a0002c0002t0003g0237
a0002c0002t0003g0238
a0002c0002t0003g0239
a0002c0002t0003g0244
a0002c0002t0003g0245
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0248
a0002c0002t0003g0250
a0002c0002t0003g0252
a0002c0002t0003g0253
a0002c0002t0003g0255
a0002c0002t0003g0266
a0002c0002t0003g0267
a0002c0002t0003g0273
a0002c0002t0003g0274
a0002c0002t0003g0275
a0002c0002t0004g0112
a0002c0002t0005g0241
a0002c0002t0006g0147
a0002c0002t0018g0270
a0002c0002t0019g0243
a0002c0002t0025g0054
a0002c0002t0027g0242
a0002c0002t0028g0249
a0002c0002t0029g0107
a0002c0002t0030g0254
a0002c0002t0033g0053
a0002c0002t0035g0286
a0003c0003t0001g0051
a0003c0003t0001g0269
a0003c0003t0002g0223
a0003c0003t0005g0024
a0003c0003t0005g0026
a0003c0003t0005g0056
a0003c0003t0005g0063
a0003c0003t0005g0168
a0003c0003t0005g0206
a0003c0003t0005g0263
a0003c0003t0005g0264
a0003c0003t0005g0265
a0003c0003t0005g0276
a0003c0003t0005g0277
a0003c0003t0008g0022
a0003c0003t0008g0030
a0003c0003t0008g0085
a0003c0003t0008g0086
a0003c0003t0008g0087
a0003c0003t0008g0088
a0003c0003t0009g0014
a0003c0003t0009g0062
a0003c0003t0009g0198
a0003c0003t0009g0199
a0003c0003t0009g0219
a0003c0003t0010g0052
a0003c0003t0010g0164
a0003c0003t0010g0283
a0003c0003t0013g0271
a0003c0003t0017g0272
a0003c0003t0024g0282
a0003c0003t0026g0268
a0004c0004t0003g0007
a0004c0004t0003g0114
a0005c0005t0001g0213
a0005c0005t0011g0046
a0005c0005t0011g0211
a0005c0005t0011g0212
a0006c0006t0003g0023
a0006c0006t0003g0130
a0006c0006t0003g0234
 265 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(262): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00323.hp1
HG00323.hp2
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00558.hp1
HG00597.hp1
HG00621.hp1
HG00621.hp2
HG00642.hp1
HG00738.hp1
HG00741.hp2
HG01070.hp2
HG01099.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01169.hp1
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01243.hp2
HG01255.hp2
HG01256.hp1
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01358.hp1
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01496.hp1
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01943.hp2
HG01952.hp1
HG01975.hp2
HG01978.hp1
HG02027.hp2
HG02040.hp1
HG02056.hp2
HG02071.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp2
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02486.hp1
HG02523.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03492.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp2
HG03688.hp2
HG03704.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03834.hp2
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18940.hp1
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp2
NA18947.hp1
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18952.hp1
NA18953.hp2
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp2
NA18959.hp1
NA18960.hp2
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18972.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp2
NA18979.hp1
NA18981.hp1
NA18981.hp2
NA18982.hp2
NA18983.hp1
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18988.hp1
NA18991.hp1
NA18992.hp2
NA18993.hp1
NA18995.hp1
NA18998.hp1
NA18999.hp1
NA18999.hp2
NA19001.hp2
NA19004.hp1
NA19004.hp2
NA19007.hp2
NA19010.hp1
NA19011.hp1
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19055.hp1
NA19056.hp1
NA19057.hp1
NA19058.hp1
NA19060.hp1
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19076.hp2
NA19077.hp1
NA19081.hp2
NA19082.hp1
NA19082.hp2
NA19084.hp1
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19088.hp2
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20752.hp1
NA20805.hp1
NA20805.hp2
NA20905.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.383-845C>A
c.383-845C>A
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 5/13 chr8 18065376
chr8:18065473 T
T
 C
C
 1 a0001c0001t0001g0257
a0001c0001t0001g0257
 1 HG03927.hp2
HG03927.hp2
 intron_variant MODIFIER c.383-942A>G
c.383-942A>G
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 5/13 chr8 18065473
chr8:18065509 G
G
 T
T
 1 a0002c0002t0003g0245
a0002c0002t0003g0245
 1 HG02040.hp1
HG02040.hp1
 intron_variant MODIFIER c.383-978C>A
c.383-978C>A
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 5/13 chr8 18065509
chr8:18065511 T
T
 C
C
 2 a0001c0001t0002g0042
a0001c0001t0002g0201
a0001c0001t0002g0042
a0001c0001t0002g0201
 3 HG00639.hp1
HG01934.hp2
HG02451.hp2
HG00639.hp1
HG01934.hp2
HG02451.hp2
 intron_variant MODIFIER c.383-980A>G
c.383-980A>G
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 5/13 chr8 18065511
chr8:18065531 G
G
 A
A
 1 a0002c0002t0025g0054
a0002c0002t0025g0054
 1 NA21309.hp2
NA21309.hp2
 intron_variant MODIFIER c.383-1000C>T
c.383-1000C>T
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 5/13 chr8 18065531
chr8:18065577 A
A
 C
C
 1 a0002c0002t0003g0239
a0002c0002t0003g0239
 1 NA19064.hp1
NA19064.hp1
 intron_variant MODIFIER c.383-1046T>G
c.383-1046T>G
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 5/13 chr8 18065577
chr8:18065633 G
G
 A
A
 156 a0001c0001t0002g0042
a0001c0001t0002g0165
a0001c0001t0002g0166
others(153): Show 
a0001c0001t0002g0042
a0001c0001t0002g0165
a0001c0001t0002g0166
a0001c0001t0002g0173
a0001c0001t0002g0188
a0001c0001t0002g0189
a0001c0001t0002g0191
a0001c0001t0002g0195
a0001c0001t0002g0200
a0001c0001t0002g0201
a0001c0007t0023g0279
a0002c0002t0001g0013
a0002c0002t0001g0032
a0002c0002t0001g0136
a0002c0002t0001g0150
a0002c0002t0002g0001
a0002c0002t0002g0008
a0002c0002t0002g0017
a0002c0002t0002g0018
a0002c0002t0002g0021
a0002c0002t0002g0028
a0002c0002t0002g0034
a0002c0002t0002g0035
a0002c0002t0002g0036
a0002c0002t0002g0037
a0002c0002t0002g0038
a0002c0002t0002g0039
a0002c0002t0002g0055
a0002c0002t0002g0092
a0002c0002t0002g0093
a0002c0002t0002g0099
a0002c0002t0002g0100
a0002c0002t0002g0120
a0002c0002t0002g0131
a0002c0002t0002g0132
a0002c0002t0002g0133
a0002c0002t0002g0135
a0002c0002t0002g0137
a0002c0002t0002g0138
a0002c0002t0002g0139
a0002c0002t0002g0140
a0002c0002t0002g0141
a0002c0002t0002g0142
a0002c0002t0002g0143
a0002c0002t0002g0144
a0002c0002t0002g0145
a0002c0002t0002g0146
a0002c0002t0002g0148
a0002c0002t0002g0149
a0002c0002t0002g0151
a0002c0002t0002g0152
a0002c0002t0002g0155
a0002c0002t0002g0156
a0002c0002t0002g0157
a0002c0002t0002g0196
a0002c0002t0002g0209
a0002c0002t0002g0240
a0002c0002t0002g0258
a0002c0002t0002g0285
a0002c0002t0003g0004
a0002c0002t0003g0006
a0002c0002t0003g0025
a0002c0002t0003g0031
a0002c0002t0003g0048
a0002c0002t0003g0049
a0002c0002t0003g0059
a0002c0002t0003g0060
a0002c0002t0003g0061
a0002c0002t0003g0091
a0002c0002t0003g0095
a0002c0002t0003g0096
a0002c0002t0003g0097
a0002c0002t0003g0098
a0002c0002t0003g0101
a0002c0002t0003g0103
a0002c0002t0003g0105
a0002c0002t0003g0106
a0002c0002t0003g0108
a0002c0002t0003g0109
a0002c0002t0003g0111
a0002c0002t0003g0113
a0002c0002t0003g0115
a0002c0002t0003g0116
a0002c0002t0003g0118
a0002c0002t0003g0134
a0002c0002t0003g0160
a0002c0002t0003g0210
a0002c0002t0003g0232
a0002c0002t0003g0233
a0002c0002t0003g0236
a0002c0002t0003g0237
a0002c0002t0003g0238
a0002c0002t0003g0239
a0002c0002t0003g0244
a0002c0002t0003g0245
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0248
a0002c0002t0003g0250
a0002c0002t0003g0252
a0002c0002t0003g0253
a0002c0002t0003g0255
a0002c0002t0003g0266
a0002c0002t0003g0267
a0002c0002t0003g0273
a0002c0002t0003g0274
a0002c0002t0003g0275
a0002c0002t0004g0112
a0002c0002t0005g0241
a0002c0002t0006g0147
a0002c0002t0018g0270
a0002c0002t0019g0243
a0002c0002t0025g0054
a0002c0002t0027g0242
a0002c0002t0028g0249
a0002c0002t0029g0107
a0002c0002t0030g0254
a0002c0002t0033g0053
a0002c0002t0035g0286
a0003c0003t0001g0051
a0003c0003t0001g0127
a0003c0003t0001g0269
a0003c0003t0002g0223
a0003c0003t0005g0024
a0003c0003t0005g0026
a0003c0003t0005g0056
a0003c0003t0005g0063
a0003c0003t0005g0168
a0003c0003t0005g0206
a0003c0003t0005g0263
a0003c0003t0005g0264
a0003c0003t0005g0265
a0003c0003t0005g0276
a0003c0003t0005g0277
a0003c0003t0008g0022
a0003c0003t0008g0030
a0003c0003t0008g0085
a0003c0003t0008g0086
a0003c0003t0008g0087
a0003c0003t0008g0088
a0003c0003t0009g0014
a0003c0003t0009g0062
a0003c0003t0009g0198
a0003c0003t0009g0199
a0003c0003t0009g0219
a0003c0003t0010g0052
a0003c0003t0010g0164
a0003c0003t0010g0283
a0003c0003t0017g0272
a0003c0003t0024g0282
a0003c0003t0026g0268
a0004c0004t0003g0007
a0004c0004t0003g0114
a0006c0006t0003g0023
a0006c0006t0003g0130
a0006c0006t0003g0234
 230 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(227): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00323.hp1
HG00423.hp2
HG00438.hp1
HG00558.hp1
HG00597.hp1
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00642.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01070.hp2
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01243.hp2
HG01255.hp2
HG01256.hp1
HG01257.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01358.hp1
HG01361.hp2
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01891.hp1
HG01891.hp2
HG01934.hp2
HG01943.hp2
HG01975.hp2
HG01978.hp1
HG02004.hp2
HG02040.hp1
HG02056.hp2
HG02071.hp1
HG02080.hp2
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02165.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp2
HG02300.hp2
HG02451.hp2
HG02486.hp1
HG02523.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03492.hp2
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp2
HG03688.hp2
HG03704.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp2
HG03942.hp2
HG04115.hp2
HG04204.hp2
HG04228.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18940.hp1
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18944.hp1
NA18947.hp1
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18950.hp1
NA18952.hp1
NA18953.hp2
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp2
NA18959.hp1
NA18960.hp2
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp2
NA18979.hp1
NA18981.hp1
NA18981.hp2
NA18982.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18988.hp1
NA18991.hp1
NA18992.hp2
NA18993.hp1
NA18998.hp1
NA18999.hp2
NA19001.hp2
NA19004.hp1
NA19007.hp2
NA19010.hp1
NA19011.hp1
NA19043.hp2
NA19054.hp1
NA19055.hp1
NA19056.hp1
NA19057.hp1
NA19058.hp1
NA19060.hp1
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19076.hp2
NA19077.hp1
NA19081.hp2
NA19082.hp1
NA19082.hp2
NA19084.hp1
NA19086.hp2
NA19087.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20752.hp1
NA20805.hp1
NA20805.hp2
NA20905.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.383-1102C>T
c.383-1102C>T
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 5/13 chr8 18065633
chr8:18065638 T
T
 C
C
 156 a0001c0001t0002g0042
a0001c0001t0002g0165
a0001c0001t0002g0166
others(153): Show 
a0001c0001t0002g0042
a0001c0001t0002g0165
a0001c0001t0002g0166
a0001c0001t0002g0173
a0001c0001t0002g0188
a0001c0001t0002g0189
a0001c0001t0002g0191
a0001c0001t0002g0195
a0001c0001t0002g0200
a0001c0001t0002g0201
a0001c0007t0023g0279
a0002c0002t0001g0013
a0002c0002t0001g0032
a0002c0002t0001g0136
a0002c0002t0001g0150
a0002c0002t0002g0001
a0002c0002t0002g0008
a0002c0002t0002g0017
a0002c0002t0002g0018
a0002c0002t0002g0021
a0002c0002t0002g0028
a0002c0002t0002g0034
a0002c0002t0002g0035
a0002c0002t0002g0036
a0002c0002t0002g0037
a0002c0002t0002g0038
a0002c0002t0002g0039
a0002c0002t0002g0055
a0002c0002t0002g0092
a0002c0002t0002g0093
a0002c0002t0002g0099
a0002c0002t0002g0100
a0002c0002t0002g0120
a0002c0002t0002g0131
a0002c0002t0002g0132
a0002c0002t0002g0133
a0002c0002t0002g0135
a0002c0002t0002g0137
a0002c0002t0002g0138
a0002c0002t0002g0139
a0002c0002t0002g0140
a0002c0002t0002g0141
a0002c0002t0002g0142
a0002c0002t0002g0143
a0002c0002t0002g0144
a0002c0002t0002g0145
a0002c0002t0002g0146
a0002c0002t0002g0148
a0002c0002t0002g0149
a0002c0002t0002g0151
a0002c0002t0002g0152
a0002c0002t0002g0155
a0002c0002t0002g0156
a0002c0002t0002g0157
a0002c0002t0002g0196
a0002c0002t0002g0209
a0002c0002t0002g0240
a0002c0002t0002g0258
a0002c0002t0002g0285
a0002c0002t0003g0004
a0002c0002t0003g0006
a0002c0002t0003g0025
a0002c0002t0003g0031
a0002c0002t0003g0048
a0002c0002t0003g0049
a0002c0002t0003g0059
a0002c0002t0003g0060
a0002c0002t0003g0061
a0002c0002t0003g0091
a0002c0002t0003g0095
a0002c0002t0003g0096
a0002c0002t0003g0097
a0002c0002t0003g0098
a0002c0002t0003g0101
a0002c0002t0003g0103
a0002c0002t0003g0105
a0002c0002t0003g0106
a0002c0002t0003g0108
a0002c0002t0003g0109
a0002c0002t0003g0111
a0002c0002t0003g0113
a0002c0002t0003g0115
a0002c0002t0003g0116
a0002c0002t0003g0118
a0002c0002t0003g0134
a0002c0002t0003g0160
a0002c0002t0003g0210
a0002c0002t0003g0232
a0002c0002t0003g0233
a0002c0002t0003g0236
a0002c0002t0003g0237
a0002c0002t0003g0238
a0002c0002t0003g0239
a0002c0002t0003g0244
a0002c0002t0003g0245
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0248
a0002c0002t0003g0250
a0002c0002t0003g0252
a0002c0002t0003g0253
a0002c0002t0003g0255
a0002c0002t0003g0266
a0002c0002t0003g0267
a0002c0002t0003g0273
a0002c0002t0003g0274
a0002c0002t0003g0275
a0002c0002t0004g0112
a0002c0002t0005g0241
a0002c0002t0006g0147
a0002c0002t0018g0270
a0002c0002t0019g0243
a0002c0002t0025g0054
a0002c0002t0027g0242
a0002c0002t0028g0249
a0002c0002t0029g0107
a0002c0002t0030g0254
a0002c0002t0033g0053
a0002c0002t0035g0286
a0003c0003t0001g0051
a0003c0003t0001g0127
a0003c0003t0001g0269
a0003c0003t0002g0223
a0003c0003t0005g0024
a0003c0003t0005g0026
a0003c0003t0005g0056
a0003c0003t0005g0063
a0003c0003t0005g0168
a0003c0003t0005g0206
a0003c0003t0005g0263
a0003c0003t0005g0264
a0003c0003t0005g0265
a0003c0003t0005g0276
a0003c0003t0005g0277
a0003c0003t0008g0022
a0003c0003t0008g0030
a0003c0003t0008g0085
a0003c0003t0008g0086
a0003c0003t0008g0087
a0003c0003t0008g0088
a0003c0003t0009g0014
a0003c0003t0009g0062
a0003c0003t0009g0198
a0003c0003t0009g0199
a0003c0003t0009g0219
a0003c0003t0010g0052
a0003c0003t0010g0164
a0003c0003t0010g0283
a0003c0003t0017g0272
a0003c0003t0024g0282
a0003c0003t0026g0268
a0004c0004t0003g0007
a0004c0004t0003g0114
a0006c0006t0003g0023
a0006c0006t0003g0130
a0006c0006t0003g0234
 230 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(227): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00323.hp1
HG00423.hp2
HG00438.hp1
HG00558.hp1
HG00597.hp1
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00642.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01070.hp2
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01243.hp2
HG01255.hp2
HG01256.hp1
HG01257.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01358.hp1
HG01361.hp2
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01891.hp1
HG01891.hp2
HG01934.hp2
HG01943.hp2
HG01975.hp2
HG01978.hp1
HG02004.hp2
HG02040.hp1
HG02056.hp2
HG02071.hp1
HG02080.hp2
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02165.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp2
HG02300.hp2
HG02451.hp2
HG02486.hp1
HG02523.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03492.hp2
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp2
HG03688.hp2
HG03704.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp2
HG03942.hp2
HG04115.hp2
HG04204.hp2
HG04228.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18940.hp1
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18944.hp1
NA18947.hp1
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18950.hp1
NA18952.hp1
NA18953.hp2
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp2
NA18959.hp1
NA18960.hp2
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp2
NA18979.hp1
NA18981.hp1
NA18981.hp2
NA18982.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18988.hp1
NA18991.hp1
NA18992.hp2
NA18993.hp1
NA18998.hp1
NA18999.hp2
NA19001.hp2
NA19004.hp1
NA19007.hp2
NA19010.hp1
NA19011.hp1
NA19043.hp2
NA19054.hp1
NA19055.hp1
NA19056.hp1
NA19057.hp1
NA19058.hp1
NA19060.hp1
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19076.hp2
NA19077.hp1
NA19081.hp2
NA19082.hp1
NA19082.hp2
NA19084.hp1
NA19086.hp2
NA19087.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20752.hp1
NA20805.hp1
NA20805.hp2
NA20905.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.383-1107A>G
c.383-1107A>G
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 5/13 chr8 18065638
chr8:18065664 A
A
 G
G
 1 a0001c0001t0001g0158
a0001c0001t0001g0158
 1 HG01433.hp2
HG01433.hp2
 intron_variant MODIFIER c.383-1133T>C
c.383-1133T>C
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 5/13 chr8 18065664
chr8:18065764 A
A
 C
C
 1 a0003c0003t0001g0119
a0003c0003t0001g0119
 1 NA19076.hp1
NA19076.hp1
 intron_variant MODIFIER c.383-1233T>G
c.383-1233T>G
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 5/13 chr8 18065764
chr8:18065830 C
C
 T
T
 146 a0001c0001t0002g0195
a0001c0001t0002g0200
a0002c0002t0001g0013
others(143): Show 
a0001c0001t0002g0195
a0001c0001t0002g0200
a0002c0002t0001g0013
a0002c0002t0001g0032
a0002c0002t0001g0136
a0002c0002t0001g0150
a0002c0002t0002g0001
a0002c0002t0002g0008
a0002c0002t0002g0017
a0002c0002t0002g0018
a0002c0002t0002g0021
a0002c0002t0002g0028
a0002c0002t0002g0034
a0002c0002t0002g0035
a0002c0002t0002g0036
a0002c0002t0002g0037
a0002c0002t0002g0038
a0002c0002t0002g0039
a0002c0002t0002g0055
a0002c0002t0002g0092
a0002c0002t0002g0093
a0002c0002t0002g0099
a0002c0002t0002g0100
a0002c0002t0002g0120
a0002c0002t0002g0131
a0002c0002t0002g0132
a0002c0002t0002g0133
a0002c0002t0002g0135
a0002c0002t0002g0137
a0002c0002t0002g0138
a0002c0002t0002g0139
a0002c0002t0002g0140
a0002c0002t0002g0141
a0002c0002t0002g0142
a0002c0002t0002g0143
a0002c0002t0002g0144
a0002c0002t0002g0145
a0002c0002t0002g0146
a0002c0002t0002g0148
a0002c0002t0002g0149
a0002c0002t0002g0151
a0002c0002t0002g0152
a0002c0002t0002g0155
a0002c0002t0002g0156
a0002c0002t0002g0157
a0002c0002t0002g0196
a0002c0002t0002g0209
a0002c0002t0002g0240
a0002c0002t0002g0258
a0002c0002t0002g0285
a0002c0002t0003g0004
a0002c0002t0003g0006
a0002c0002t0003g0025
a0002c0002t0003g0031
a0002c0002t0003g0048
a0002c0002t0003g0049
a0002c0002t0003g0059
a0002c0002t0003g0060
a0002c0002t0003g0061
a0002c0002t0003g0091
a0002c0002t0003g0095
a0002c0002t0003g0096
a0002c0002t0003g0097
a0002c0002t0003g0098
a0002c0002t0003g0101
a0002c0002t0003g0103
a0002c0002t0003g0105
a0002c0002t0003g0106
a0002c0002t0003g0108
a0002c0002t0003g0109
a0002c0002t0003g0111
a0002c0002t0003g0113
a0002c0002t0003g0115
a0002c0002t0003g0116
a0002c0002t0003g0118
a0002c0002t0003g0134
a0002c0002t0003g0160
a0002c0002t0003g0210
a0002c0002t0003g0232
a0002c0002t0003g0233
a0002c0002t0003g0236
a0002c0002t0003g0237
a0002c0002t0003g0238
a0002c0002t0003g0239
a0002c0002t0003g0244
a0002c0002t0003g0245
a0002c0002t0003g0246
a0002c0002t0003g0248
a0002c0002t0003g0250
a0002c0002t0003g0252
a0002c0002t0003g0253
a0002c0002t0003g0255
a0002c0002t0003g0266
a0002c0002t0003g0267
a0002c0002t0003g0273
a0002c0002t0003g0274
a0002c0002t0003g0275
a0002c0002t0004g0112
a0002c0002t0005g0241
a0002c0002t0006g0147
a0002c0002t0018g0270
a0002c0002t0019g0243
a0002c0002t0025g0054
a0002c0002t0027g0242
a0002c0002t0028g0249
a0002c0002t0029g0107
a0002c0002t0030g0254
a0002c0002t0033g0053
a0002c0002t0035g0286
a0003c0003t0001g0051
a0003c0003t0001g0127
a0003c0003t0001g0269
a0003c0003t0002g0223
a0003c0003t0005g0024
a0003c0003t0005g0026
a0003c0003t0005g0056
a0003c0003t0005g0063
a0003c0003t0005g0168
a0003c0003t0005g0206
a0003c0003t0005g0263
a0003c0003t0005g0264
a0003c0003t0005g0265
a0003c0003t0005g0276
a0003c0003t0005g0277
a0003c0003t0008g0022
a0003c0003t0008g0030
a0003c0003t0008g0085
a0003c0003t0008g0086
a0003c0003t0008g0087
a0003c0003t0008g0088
a0003c0003t0009g0014
a0003c0003t0009g0062
a0003c0003t0009g0198
a0003c0003t0009g0199
a0003c0003t0009g0219
a0003c0003t0010g0052
a0003c0003t0010g0164
a0003c0003t0010g0283
a0003c0003t0017g0272
a0003c0003t0024g0282
a0003c0003t0026g0268
a0004c0004t0003g0007
a0004c0004t0003g0114
a0006c0006t0003g0023
a0006c0006t0003g0130
a0006c0006t0003g0234
 219 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(216): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00323.hp1
HG00423.hp2
HG00438.hp1
HG00558.hp1
HG00597.hp1
HG00621.hp1
HG00621.hp2
HG00642.hp1
HG00738.hp1
HG00741.hp2
HG01070.hp2
HG01099.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01243.hp2
HG01255.hp2
HG01256.hp1
HG01257.hp1
HG01258.hp1
HG01258.hp2
HG01358.hp1
HG01361.hp2
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01891.hp1
HG01891.hp2
HG01943.hp2
HG01975.hp2
HG01978.hp1
HG02040.hp1
HG02056.hp2
HG02071.hp1
HG02080.hp2
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp2
HG02300.hp2
HG02486.hp1
HG02523.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03492.hp2
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp2
HG03688.hp2
HG03704.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp2
HG03942.hp2
HG04115.hp2
HG04204.hp2
HG04228.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18940.hp1
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18944.hp1
NA18947.hp1
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18950.hp1
NA18952.hp1
NA18953.hp2
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp2
NA18959.hp1
NA18960.hp2
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18979.hp1
NA18981.hp1
NA18981.hp2
NA18982.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18988.hp1
NA18991.hp1
NA18992.hp2
NA18993.hp1
NA18998.hp1
NA18999.hp2
NA19001.hp2
NA19004.hp1
NA19007.hp2
NA19010.hp1
NA19011.hp1
NA19043.hp2
NA19054.hp1
NA19055.hp1
NA19056.hp1
NA19057.hp1
NA19058.hp1
NA19060.hp1
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19076.hp2
NA19077.hp1
NA19081.hp2
NA19082.hp1
NA19082.hp2
NA19084.hp1
NA19086.hp2
NA19087.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20752.hp1
NA20805.hp1
NA20805.hp2
NA20905.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.383-1299G>A
c.383-1299G>A
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 5/13 chr8 18065830
chr8:18065859 C
C
 T
T
 1 a0002c0002t0002g0144
a0002c0002t0002g0144
 1 HG02922.hp1
HG02922.hp1
 intron_variant MODIFIER c.383-1328G>A
c.383-1328G>A
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 5/13 chr8 18065859
chr8:18065882 T
T
 TTG
TTG
 96 a0001c0001t0001g0045
a0001c0001t0002g0042
a0001c0001t0002g0165
others(93): Show 
a0001c0001t0001g0045
a0001c0001t0002g0042
a0001c0001t0002g0165
a0001c0001t0002g0173
a0001c0001t0002g0189
a0001c0001t0002g0191
a0001c0001t0002g0251
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0065
a0001c0001t0004g0066
a0001c0001t0004g0068
a0001c0001t0004g0069
a0001c0001t0004g0070
a0001c0001t0004g0071
a0001c0001t0004g0079
a0001c0001t0004g0080
a0001c0001t0004g0083
a0001c0001t0004g0084
a0001c0001t0004g0089
a0001c0001t0004g0090
a0001c0001t0007g0058
a0001c0001t0007g0064
a0001c0001t0007g0074
a0001c0001t0007g0075
a0001c0001t0007g0077
a0001c0001t0007g0078
a0001c0001t0007g0228
a0001c0001t0007g0229
a0001c0001t0007g0260
a0001c0001t0020g0076
a0001c0001t0021g0057
a0002c0002t0002g0100
a0002c0002t0002g0240
a0002c0002t0003g0004
a0002c0002t0003g0006
a0002c0002t0003g0025
a0002c0002t0003g0031
a0002c0002t0003g0048
a0002c0002t0003g0049
a0002c0002t0003g0059
a0002c0002t0003g0061
a0002c0002t0003g0091
a0002c0002t0003g0096
a0002c0002t0003g0097
a0002c0002t0003g0101
a0002c0002t0003g0103
a0002c0002t0003g0105
a0002c0002t0003g0106
a0002c0002t0003g0108
a0002c0002t0003g0109
a0002c0002t0003g0111
a0002c0002t0003g0113
a0002c0002t0003g0115
a0002c0002t0003g0116
a0002c0002t0003g0118
a0002c0002t0003g0134
a0002c0002t0003g0210
a0002c0002t0003g0232
a0002c0002t0003g0233
a0002c0002t0003g0239
a0002c0002t0003g0244
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0248
a0002c0002t0003g0250
a0002c0002t0003g0252
a0002c0002t0003g0253
a0002c0002t0003g0255
a0002c0002t0003g0266
a0002c0002t0003g0267
a0002c0002t0003g0273
a0002c0002t0003g0274
a0002c0002t0003g0275
a0002c0002t0004g0112
a0002c0002t0005g0241
a0002c0002t0019g0243
a0002c0002t0027g0242
a0002c0002t0028g0249
a0002c0002t0029g0107
a0002c0002t0030g0254
a0003c0003t0001g0127
a0003c0003t0005g0024
a0003c0003t0005g0056
a0003c0003t0005g0206
a0003c0003t0005g0263
a0003c0003t0005g0276
a0003c0003t0005g0277
a0003c0003t0010g0052
a0003c0003t0010g0164
a0003c0003t0010g0283
a0003c0003t0026g0268
a0004c0004t0003g0007
a0006c0006t0003g0023
a0006c0006t0003g0130
a0006c0006t0003g0234
 131 HG00423.hp2
HG00438.hp1
HG00438.hp2
others(128): Show 
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00558.hp1
HG00597.hp1
HG00621.hp1
HG00621.hp2
HG00738.hp2
HG01081.hp2
HG01106.hp2
HG01167.hp1
HG01169.hp1
HG01255.hp1
HG01257.hp2
HG01261.hp1
HG01261.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp1
HG01433.hp1
HG01496.hp1
HG01884.hp2
HG01891.hp1
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01975.hp2
HG02004.hp2
HG02027.hp2
HG02056.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02145.hp2
HG02148.hp1
HG02165.hp2
HG02257.hp1
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02293.hp2
HG02300.hp1
HG02451.hp2
HG02559.hp1
HG02572.hp2
HG02615.hp1
HG02622.hp2
HG02630.hp1
HG02717.hp1
HG02717.hp2
HG02738.hp2
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG03041.hp1
HG03041.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp2
HG03239.hp2
HG03453.hp1
HG03471.hp1
HG03579.hp1
HG03669.hp2
HG03704.hp1
HG03831.hp1
HG04115.hp1
HG04115.hp2
HG04204.hp1
NA18522.hp2
NA18612.hp1
NA18906.hp2
NA18939.hp1
NA18941.hp2
NA18943.hp1
NA18944.hp1
NA18945.hp2
NA18947.hp1
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18953.hp2
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp2
NA18960.hp2
NA18962.hp2
NA18965.hp2
NA18966.hp1
NA18967.hp2
NA18972.hp1
NA18977.hp2
NA18978.hp2
NA18979.hp1
NA18981.hp2
NA18983.hp2
NA18984.hp1
NA18988.hp1
NA18991.hp1
NA18992.hp2
NA18995.hp1
NA18998.hp1
NA18999.hp1
NA18999.hp2
NA19001.hp2
NA19004.hp1
NA19004.hp2
NA19007.hp2
NA19010.hp1
NA19011.hp1
NA19054.hp2
NA19055.hp1
NA19057.hp1
NA19063.hp2
NA19064.hp1
NA19067.hp1
NA19068.hp1
NA19081.hp2
NA19082.hp1
NA19084.hp1
NA19086.hp1
NA19087.hp1
NA19088.hp2
NA20129.hp2
NA20752.hp1
NA20905.hp2
 intron_variant MODIFIER c.382+1336_382+1337d
others(4): Show 
c.382+1336_382+1337dupCA
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 5/13 chr8 18065882
chr8:18065882 T
T
 TTGTG
TTGTG
 45 a0001c0001t0002g0195
a0001c0001t0002g0201
a0001c0001t0004g0029
others(42): Show 
a0001c0001t0002g0195
a0001c0001t0002g0201
a0001c0001t0004g0029
a0001c0001t0004g0067
a0001c0001t0004g0081
a0001c0001t0022g0082
a0001c0007t0023g0279
a0002c0002t0002g0001
a0002c0002t0002g0018
a0002c0002t0002g0021
a0002c0002t0002g0036
a0002c0002t0002g0037
a0002c0002t0002g0039
a0002c0002t0002g0092
a0002c0002t0002g0093
a0002c0002t0002g0099
a0002c0002t0002g0120
a0002c0002t0002g0131
a0002c0002t0002g0135
a0002c0002t0002g0137
a0002c0002t0002g0138
a0002c0002t0002g0139
a0002c0002t0002g0140
a0002c0002t0002g0141
a0002c0002t0002g0142
a0002c0002t0002g0143
a0002c0002t0002g0144
a0002c0002t0002g0145
a0002c0002t0002g0146
a0002c0002t0002g0149
a0002c0002t0002g0151
a0002c0002t0002g0155
a0002c0002t0002g0156
a0002c0002t0002g0157
a0002c0002t0002g0196
a0002c0002t0002g0209
a0002c0002t0002g0285
a0002c0002t0003g0060
a0002c0002t0003g0098
a0002c0002t0003g0245
a0002c0002t0006g0147
a0002c0002t0018g0270
a0002c0002t0025g0054
a0003c0003t0005g0168
a0003c0003t0013g0271
 68 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(65): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00639.hp1
HG00642.hp1
HG00738.hp1
HG01070.hp2
HG01109.hp2
HG01168.hp1
HG01175.hp1
HG01243.hp2
HG01255.hp2
HG01256.hp1
HG01258.hp2
HG01361.hp2
HG02040.hp1
HG02071.hp1
HG02132.hp2
HG02145.hp1
HG02257.hp2
HG02273.hp2
HG02451.hp1
HG02486.hp1
HG02523.hp1
HG02572.hp1
HG02602.hp2
HG02615.hp2
HG02622.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03098.hp1
HG03225.hp1
HG03239.hp1
HG03492.hp2
HG03540.hp1
HG03540.hp2
HG03688.hp2
HG03831.hp2
HG03942.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18747.hp1
NA18940.hp1
NA18942.hp1
NA18950.hp1
NA18959.hp1
NA18963.hp1
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18975.hp2
NA18977.hp1
NA18984.hp2
NA18993.hp1
NA19043.hp1
NA19054.hp1
NA19058.hp1
NA19066.hp2
NA19067.hp2
NA19086.hp2
NA19090.hp2
NA20805.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.382+1334_382+1337d
others(6): Show 
c.382+1334_382+1337dupCACA
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 5/13 chr8 18065882
chr8:18065882 T
T
 TTGTGTG
TTGTGTG
 15 a0001c0001t0001g0172
a0001c0001t0001g0182
a0001c0001t0002g0166
others(12): Show 
a0001c0001t0001g0172
a0001c0001t0001g0182
a0001c0001t0002g0166
a0002c0002t0001g0013
a0002c0002t0001g0150
a0002c0002t0002g0008
a0002c0002t0002g0028
a0002c0002t0002g0034
a0002c0002t0002g0038
a0002c0002t0002g0055
a0002c0002t0002g0133
a0002c0002t0002g0148
a0002c0002t0002g0152
a0002c0002t0033g0053
a0002c0002t0035g0286
 26 HG00323.hp1
HG00741.hp2
HG01106.hp1
others(23): Show 
HG00323.hp1
HG00741.hp2
HG01106.hp1
HG01109.hp1
HG01175.hp2
HG01192.hp2
HG01516.hp2
HG01517.hp1
HG02080.hp2
HG02129.hp2
HG02135.hp2
HG02300.hp2
HG02559.hp2
HG03098.hp2
HG03486.hp1
HG03486.hp2
HG03669.hp1
HG04184.hp1
NA18941.hp1
NA18981.hp1
NA18982.hp2
NA18983.hp1
NA19056.hp1
NA19063.hp1
NA19068.hp2
NA20805.hp2
 intron_variant MODIFIER c.382+1332_382+1337d
others(8): Show 
c.382+1332_382+1337dupCACACA
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 5/13 chr8 18065882
chr8:18065882 T
T
 TTGTGTGT
others(1): Show 
TTGTGTGTG
 7 a0001c0001t0002g0200
a0002c0002t0001g0032
a0002c0002t0001g0136
others(4): Show 
a0001c0001t0002g0200
a0002c0002t0001g0032
a0002c0002t0001g0136
a0002c0002t0002g0017
a0002c0002t0002g0035
a0002c0002t0002g0132
a0002c0002t0002g0258
 11 HG01167.hp2
HG01257.hp1
HG01258.hp1
others(8): Show 
HG01167.hp2
HG01257.hp1
HG01258.hp1
HG01978.hp1
HG02965.hp1
NA18965.hp1
NA18970.hp1
NA19060.hp1
NA19076.hp2
NA19077.hp1
NA19082.hp2
 intron_variant MODIFIER c.382+1330_382+1337d
others(10): Show 
c.382+1330_382+1337dupCACACACA
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 5/13 chr8 18065882
chr8:18065882 TTG
TTG
 T
T
 12 a0001c0001t0001g0185
a0001c0001t0006g0217
a0001c0001t0006g0222
others(9): Show 
a0001c0001t0001g0185
a0001c0001t0006g0217
a0001c0001t0006g0222
a0001c0008t0006g0218
a0003c0003t0001g0051
a0003c0003t0001g0269
a0003c0003t0009g0014
a0003c0003t0009g0062
a0003c0003t0009g0198
a0003c0003t0009g0199
a0003c0003t0009g0219
a0003c0003t0017g0272
 16 HG02109.hp2
HG02647.hp2
HG02683.hp1
others(13): Show 
HG02109.hp2
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02818.hp1
HG02896.hp1
HG02897.hp2
HG03453.hp2
HG03710.hp2
HG03927.hp1
HG04228.hp1
NA19081.hp1
NA19240.hp1
 intron_variant MODIFIER c.382+1336_382+1337d
others(4): Show 
c.382+1336_382+1337delCA
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 5/13 chr8 18065882
chr8:18065882 TTGTGTGT
others(3): Show 
TTGTGTGTGTG
 T
T
 1 a0001c0001t0007g0073
a0001c0001t0007g0073
 1 HG00323.hp2
HG00323.hp2
 intron_variant MODIFIER c.382+1328_382+1337d
others(12): Show 
c.382+1328_382+1337delCACACACACA
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 5/13 chr8 18065882
chr8:18065910 G
G
 A
A
 8 a0003c0003t0001g0051
a0003c0003t0001g0269
a0003c0003t0009g0014
others(5): Show 
a0003c0003t0001g0051
a0003c0003t0001g0269
a0003c0003t0009g0014
a0003c0003t0009g0062
a0003c0003t0009g0198
a0003c0003t0009g0199
a0003c0003t0009g0219
a0003c0003t0017g0272
 12 HG02109.hp2
HG02647.hp2
HG02683.hp2
others(9): Show 
HG02109.hp2
HG02647.hp2
HG02683.hp2
HG02723.hp1
HG02735.hp2
HG02818.hp1
HG02896.hp1
HG02897.hp2
HG03453.hp2
HG03710.hp2
HG04228.hp1
NA19240.hp1
 intron_variant MODIFIER c.382+1310C>T
c.382+1310C>T
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 5/13 chr8 18065910
chr8:18065910 GTA
GTA
 G
G
 6 a0003c0003t0002g0223
a0003c0003t0008g0022
a0003c0003t0008g0030
others(3): Show 
a0003c0003t0002g0223
a0003c0003t0008g0022
a0003c0003t0008g0030
a0003c0003t0008g0086
a0003c0003t0008g0087
a0003c0003t0008g0088
 9 HG01099.hp1
HG01884.hp1
HG02280.hp2
others(6): Show 
HG01099.hp1
HG01884.hp1
HG02280.hp2
HG02809.hp2
HG02886.hp2
HG03130.hp1
HG03579.hp2
NA18906.hp1
NA20129.hp1
 intron_variant MODIFIER c.382+1308_382+1309d
others(4): Show 
c.382+1308_382+1309delTA
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 5/13 chr8 18065910
chr8:18065912 A
A
 G
G
 144 a0001c0001t0001g0178
a0001c0001t0001g0180
a0001c0001t0001g0184
others(141): Show 
a0001c0001t0001g0178
a0001c0001t0001g0180
a0001c0001t0001g0184
a0001c0001t0001g0202
a0001c0001t0002g0042
a0001c0001t0002g0165
a0001c0001t0002g0166
a0001c0001t0002g0173
a0001c0001t0002g0189
a0001c0001t0002g0191
a0001c0001t0002g0195
a0001c0001t0002g0200
a0001c0001t0002g0201
a0001c0001t0004g0069
a0001c0007t0023g0279
a0002c0002t0001g0013
a0002c0002t0001g0032
a0002c0002t0001g0136
a0002c0002t0001g0150
a0002c0002t0002g0001
a0002c0002t0002g0008
a0002c0002t0002g0017
a0002c0002t0002g0018
a0002c0002t0002g0021
a0002c0002t0002g0028
a0002c0002t0002g0034
a0002c0002t0002g0035
a0002c0002t0002g0036
a0002c0002t0002g0037
a0002c0002t0002g0038
a0002c0002t0002g0039
a0002c0002t0002g0055
a0002c0002t0002g0092
a0002c0002t0002g0093
a0002c0002t0002g0099
a0002c0002t0002g0100
a0002c0002t0002g0120
a0002c0002t0002g0131
a0002c0002t0002g0132
a0002c0002t0002g0133
a0002c0002t0002g0135
a0002c0002t0002g0137
a0002c0002t0002g0138
a0002c0002t0002g0139
a0002c0002t0002g0140
a0002c0002t0002g0141
a0002c0002t0002g0142
a0002c0002t0002g0143
a0002c0002t0002g0144
a0002c0002t0002g0145
a0002c0002t0002g0146
a0002c0002t0002g0148
a0002c0002t0002g0149
a0002c0002t0002g0151
a0002c0002t0002g0152
a0002c0002t0002g0155
a0002c0002t0002g0156
a0002c0002t0002g0157
a0002c0002t0002g0196
a0002c0002t0002g0209
a0002c0002t0002g0240
a0002c0002t0002g0258
a0002c0002t0002g0285
a0002c0002t0003g0004
a0002c0002t0003g0006
a0002c0002t0003g0025
a0002c0002t0003g0031
a0002c0002t0003g0048
a0002c0002t0003g0049
a0002c0002t0003g0059
a0002c0002t0003g0060
a0002c0002t0003g0061
a0002c0002t0003g0091
a0002c0002t0003g0095
a0002c0002t0003g0096
a0002c0002t0003g0097
a0002c0002t0003g0098
a0002c0002t0003g0101
a0002c0002t0003g0103
a0002c0002t0003g0105
a0002c0002t0003g0106
a0002c0002t0003g0108
a0002c0002t0003g0109
a0002c0002t0003g0111
a0002c0002t0003g0113
a0002c0002t0003g0115
a0002c0002t0003g0116
a0002c0002t0003g0118
a0002c0002t0003g0134
a0002c0002t0003g0160
a0002c0002t0003g0210
a0002c0002t0003g0232
a0002c0002t0003g0233
a0002c0002t0003g0236
a0002c0002t0003g0237
a0002c0002t0003g0238
a0002c0002t0003g0239
a0002c0002t0003g0244
a0002c0002t0003g0245
a0002c0002t0003g0247
a0002c0002t0003g0248
a0002c0002t0003g0250
a0002c0002t0003g0252
a0002c0002t0003g0253
a0002c0002t0003g0255
a0002c0002t0003g0266
a0002c0002t0003g0267
a0002c0002t0003g0273
a0002c0002t0003g0274
a0002c0002t0003g0275
a0002c0002t0004g0112
a0002c0002t0005g0241
a0002c0002t0006g0147
a0002c0002t0018g0270
a0002c0002t0019g0243
a0002c0002t0025g0054
a0002c0002t0027g0242
a0002c0002t0028g0249
a0002c0002t0029g0107
a0002c0002t0030g0254
a0002c0002t0033g0053
a0002c0002t0035g0286
a0003c0003t0001g0127
a0003c0003t0005g0024
a0003c0003t0005g0026
a0003c0003t0005g0056
a0003c0003t0005g0063
a0003c0003t0005g0168
a0003c0003t0005g0206
a0003c0003t0005g0263
a0003c0003t0005g0264
a0003c0003t0005g0265
a0003c0003t0005g0276
a0003c0003t0005g0277
a0003c0003t0010g0052
a0003c0003t0010g0164
a0003c0003t0010g0283
a0003c0003t0024g0282
a0003c0003t0026g0268
a0004c0004t0003g0007
a0004c0004t0003g0114
a0006c0006t0003g0023
a0006c0006t0003g0130
a0006c0006t0003g0234
 211 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(208): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00323.hp1
HG00423.hp2
HG00438.hp1
HG00558.hp1
HG00597.hp1
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00642.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01070.hp2
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01243.hp2
HG01255.hp2
HG01256.hp1
HG01257.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01358.hp1
HG01361.hp2
HG01515.hp2
HG01516.hp2
HG01517.hp1
HG01891.hp1
HG01891.hp2
HG01934.hp2
HG01943.hp2
HG01975.hp2
HG01978.hp1
HG02004.hp2
HG02040.hp1
HG02056.hp2
HG02071.hp1
HG02080.hp2
HG02083.hp2
HG02109.hp1
HG02129.hp2
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02165.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02293.hp2
HG02300.hp2
HG02451.hp2
HG02486.hp1
HG02523.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02647.hp1
HG02717.hp1
HG02717.hp2
HG02738.hp2
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03492.hp2
HG03540.hp2
HG03579.hp1
HG03669.hp2
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp2
HG03942.hp2
HG04115.hp2
HG04204.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18906.hp2
NA18939.hp1
NA18940.hp1
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18944.hp1
NA18947.hp1
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18950.hp1
NA18952.hp1
NA18953.hp2
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp2
NA18959.hp1
NA18960.hp2
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp2
NA18979.hp1
NA18981.hp1
NA18981.hp2
NA18982.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18988.hp1
NA18991.hp1
NA18992.hp2
NA18993.hp1
NA18998.hp1
NA18999.hp2
NA19001.hp2
NA19004.hp1
NA19007.hp2
NA19010.hp1
NA19011.hp1
NA19043.hp2
NA19054.hp1
NA19055.hp1
NA19056.hp1
NA19057.hp1
NA19058.hp1
NA19060.hp1
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19076.hp2
NA19077.hp1
NA19081.hp2
NA19082.hp1
NA19082.hp2
NA19084.hp1
NA19084.hp2
NA19086.hp2
NA19087.hp1
NA19088.hp2
NA19240.hp2
NA20129.hp2
NA20752.hp1
NA20805.hp1
NA20805.hp2
NA20905.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.382+1308T>C
c.382+1308T>C
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 5/13 chr8 18065912
chr8:18065914 A
A
 G
G
 60 a0001c0001t0002g0042
a0001c0001t0002g0165
a0001c0001t0002g0166
others(57): Show 
a0001c0001t0002g0042
a0001c0001t0002g0165
a0001c0001t0002g0166
a0001c0001t0002g0173
a0001c0001t0002g0189
a0001c0001t0002g0191
a0001c0001t0002g0195
a0001c0001t0002g0200
a0001c0001t0002g0201
a0002c0002t0001g0013
a0002c0002t0001g0032
a0002c0002t0001g0136
a0002c0002t0001g0150
a0002c0002t0002g0001
a0002c0002t0002g0008
a0002c0002t0002g0017
a0002c0002t0002g0018
a0002c0002t0002g0021
a0002c0002t0002g0028
a0002c0002t0002g0034
a0002c0002t0002g0035
a0002c0002t0002g0036
a0002c0002t0002g0037
a0002c0002t0002g0038
a0002c0002t0002g0039
a0002c0002t0002g0055
a0002c0002t0002g0092
a0002c0002t0002g0093
a0002c0002t0002g0099
a0002c0002t0002g0100
a0002c0002t0002g0120
a0002c0002t0002g0131
a0002c0002t0002g0132
a0002c0002t0002g0133
a0002c0002t0002g0135
a0002c0002t0002g0137
a0002c0002t0002g0138
a0002c0002t0002g0139
a0002c0002t0002g0140
a0002c0002t0002g0141
a0002c0002t0002g0142
a0002c0002t0002g0143
a0002c0002t0002g0144
a0002c0002t0002g0145
a0002c0002t0002g0146
a0002c0002t0002g0148
a0002c0002t0002g0149
a0002c0002t0002g0151
a0002c0002t0002g0152
a0002c0002t0002g0155
a0002c0002t0002g0156
a0002c0002t0002g0157
a0002c0002t0002g0196
a0002c0002t0002g0209
a0002c0002t0002g0258
a0002c0002t0002g0285
a0002c0002t0003g0106
a0002c0002t0006g0147
a0002c0002t0033g0053
a0002c0002t0035g0286
 98 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(95): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00323.hp1
HG00639.hp1
HG00642.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01070.hp2
HG01081.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01243.hp2
HG01255.hp2
HG01256.hp1
HG01257.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01361.hp2
HG01516.hp2
HG01517.hp1
HG01934.hp2
HG01978.hp1
HG02004.hp2
HG02056.hp2
HG02071.hp1
HG02080.hp2
HG02129.hp2
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02273.hp2
HG02300.hp2
HG02451.hp2
HG02486.hp1
HG02523.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp2
HG02615.hp2
HG02622.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03098.hp2
HG03239.hp1
HG03486.hp1
HG03486.hp2
HG03492.hp2
HG03688.hp2
HG03831.hp2
HG03942.hp2
HG06807.hp2
NA18747.hp1
NA18940.hp1
NA18941.hp1
NA18942.hp1
NA18959.hp1
NA18963.hp1
NA18965.hp1
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18975.hp2
NA18977.hp1
NA18981.hp1
NA18982.hp2
NA18983.hp1
NA18984.hp2
NA18993.hp1
NA19054.hp1
NA19056.hp1
NA19058.hp1
NA19060.hp1
NA19063.hp1
NA19066.hp2
NA19067.hp2
NA19068.hp2
NA19076.hp2
NA19077.hp1
NA19082.hp2
NA19086.hp2
NA20752.hp1
NA20805.hp1
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.382+1306T>C
c.382+1306T>C
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 5/13 chr8 18065914
chr8:18065916 A
A
 G
G
 2 a0002c0002t0002g0021
a0002c0002t0002g0141
a0002c0002t0002g0021
a0002c0002t0002g0141
 4 HG01109.hp2
HG02572.hp1
HG02970.hp1
others(1): Show 
HG01109.hp2
HG02572.hp1
HG02970.hp1
NA18747.hp1
 intron_variant MODIFIER c.382+1304T>C
c.382+1304T>C
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 5/13 chr8 18065916
chr8:18065944 A
A
 G
G
 3 a0001c0001t0001g0040
a0001c0001t0001g0183
a0001c0001t0001g0259
a0001c0001t0001g0040
a0001c0001t0001g0183
a0001c0001t0001g0259
 4 NA18747.hp2
NA18954.hp1
NA18974.hp2
others(1): Show 
NA18747.hp2
NA18954.hp1
NA18974.hp2
NA18992.hp1
 intron_variant MODIFIER c.382+1276T>C
c.382+1276T>C
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 5/13 chr8 18065944
chr8:18065990 C
C
 G
G
 154 a0001c0001t0002g0042
a0001c0001t0002g0165
a0001c0001t0002g0166
others(151): Show 
a0001c0001t0002g0042
a0001c0001t0002g0165
a0001c0001t0002g0166
a0001c0001t0002g0173
a0001c0001t0002g0188
a0001c0001t0002g0189
a0001c0001t0002g0191
a0001c0001t0002g0195
a0001c0001t0002g0200
a0001c0001t0002g0201
a0002c0002t0001g0013
a0002c0002t0001g0032
a0002c0002t0001g0136
a0002c0002t0001g0150
a0002c0002t0002g0001
a0002c0002t0002g0008
a0002c0002t0002g0017
a0002c0002t0002g0018
a0002c0002t0002g0021
a0002c0002t0002g0028
a0002c0002t0002g0034
a0002c0002t0002g0035
a0002c0002t0002g0036
a0002c0002t0002g0037
a0002c0002t0002g0038
a0002c0002t0002g0039
a0002c0002t0002g0055
a0002c0002t0002g0092
a0002c0002t0002g0093
a0002c0002t0002g0099
a0002c0002t0002g0100
a0002c0002t0002g0120
a0002c0002t0002g0131
a0002c0002t0002g0132
a0002c0002t0002g0133
a0002c0002t0002g0135
a0002c0002t0002g0137
a0002c0002t0002g0138
a0002c0002t0002g0139
a0002c0002t0002g0140
a0002c0002t0002g0141
a0002c0002t0002g0142
a0002c0002t0002g0143
a0002c0002t0002g0144
a0002c0002t0002g0145
a0002c0002t0002g0146
a0002c0002t0002g0148
a0002c0002t0002g0149
a0002c0002t0002g0151
a0002c0002t0002g0152
a0002c0002t0002g0155
a0002c0002t0002g0156
a0002c0002t0002g0157
a0002c0002t0002g0196
a0002c0002t0002g0209
a0002c0002t0002g0240
a0002c0002t0002g0258
a0002c0002t0002g0285
a0002c0002t0003g0004
a0002c0002t0003g0006
a0002c0002t0003g0025
a0002c0002t0003g0031
a0002c0002t0003g0048
a0002c0002t0003g0049
a0002c0002t0003g0059
a0002c0002t0003g0060
a0002c0002t0003g0061
a0002c0002t0003g0091
a0002c0002t0003g0095
a0002c0002t0003g0096
a0002c0002t0003g0097
a0002c0002t0003g0098
a0002c0002t0003g0101
a0002c0002t0003g0103
a0002c0002t0003g0105
a0002c0002t0003g0106
a0002c0002t0003g0108
a0002c0002t0003g0109
a0002c0002t0003g0111
a0002c0002t0003g0113
a0002c0002t0003g0115
a0002c0002t0003g0116
a0002c0002t0003g0118
a0002c0002t0003g0134
a0002c0002t0003g0160
a0002c0002t0003g0210
a0002c0002t0003g0232
a0002c0002t0003g0233
a0002c0002t0003g0236
a0002c0002t0003g0237
a0002c0002t0003g0238
a0002c0002t0003g0239
a0002c0002t0003g0244
a0002c0002t0003g0245
a0002c0002t0003g0246
a0002c0002t0003g0248
a0002c0002t0003g0250
a0002c0002t0003g0252
a0002c0002t0003g0253
a0002c0002t0003g0255
a0002c0002t0003g0266
a0002c0002t0003g0267
a0002c0002t0003g0273
a0002c0002t0003g0274
a0002c0002t0003g0275
a0002c0002t0004g0112
a0002c0002t0005g0241
a0002c0002t0006g0147
a0002c0002t0018g0270
a0002c0002t0019g0243
a0002c0002t0025g0054
a0002c0002t0027g0242
a0002c0002t0028g0249
a0002c0002t0029g0107
a0002c0002t0030g0254
a0002c0002t0033g0053
a0002c0002t0035g0286
a0003c0003t0001g0051
a0003c0003t0001g0127
a0003c0003t0001g0269
a0003c0003t0002g0223
a0003c0003t0005g0024
a0003c0003t0005g0026
a0003c0003t0005g0056
a0003c0003t0005g0063
a0003c0003t0005g0168
a0003c0003t0005g0206
a0003c0003t0005g0263
a0003c0003t0005g0264
a0003c0003t0005g0265
a0003c0003t0005g0276
a0003c0003t0005g0277
a0003c0003t0008g0022
a0003c0003t0008g0030
a0003c0003t0008g0085
a0003c0003t0008g0086
a0003c0003t0008g0087
a0003c0003t0008g0088
a0003c0003t0009g0014
a0003c0003t0009g0062
a0003c0003t0009g0198
a0003c0003t0009g0199
a0003c0003t0009g0219
a0003c0003t0010g0052
a0003c0003t0010g0164
a0003c0003t0010g0283
a0003c0003t0017g0272
a0003c0003t0024g0282
a0003c0003t0026g0268
a0004c0004t0003g0007
a0004c0004t0003g0114
a0006c0006t0003g0023
a0006c0006t0003g0130
a0006c0006t0003g0234
 228 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(225): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00323.hp1
HG00423.hp2
HG00438.hp1
HG00558.hp1
HG00597.hp1
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00642.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01070.hp2
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01243.hp2
HG01255.hp2
HG01256.hp1
HG01257.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01358.hp1
HG01361.hp2
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01891.hp1
HG01891.hp2
HG01934.hp2
HG01943.hp2
HG01975.hp2
HG01978.hp1
HG02004.hp2
HG02040.hp1
HG02056.hp2
HG02071.hp1
HG02080.hp2
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp2
HG02300.hp2
HG02451.hp2
HG02486.hp1
HG02523.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03492.hp2
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp2
HG03688.hp2
HG03704.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp2
HG03942.hp2
HG04115.hp2
HG04204.hp2
HG04228.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18940.hp1
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18944.hp1
NA18947.hp1
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18950.hp1
NA18952.hp1
NA18953.hp2
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp2
NA18959.hp1
NA18960.hp2
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18979.hp1
NA18981.hp1
NA18981.hp2
NA18982.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18988.hp1
NA18991.hp1
NA18992.hp2
NA18993.hp1
NA18998.hp1
NA18999.hp2
NA19001.hp2
NA19004.hp1
NA19007.hp2
NA19010.hp1
NA19011.hp1
NA19043.hp2
NA19054.hp1
NA19055.hp1
NA19056.hp1
NA19057.hp1
NA19058.hp1
NA19060.hp1
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19076.hp2
NA19077.hp1
NA19081.hp2
NA19082.hp1
NA19082.hp2
NA19084.hp1
NA19086.hp2
NA19087.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20752.hp1
NA20805.hp1
NA20805.hp2
NA20905.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.382+1230G>C
c.382+1230G>C
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 5/13 chr8 18065990
chr8:18066048 T
T
 C
C
 2 a0001c0001t0001g0169
a0001c0001t0001g0171
a0001c0001t0001g0169
a0001c0001t0001g0171
 2 HG01928.hp1
HG01993.hp1
HG01928.hp1
HG01993.hp1
 intron_variant MODIFIER c.382+1172A>G
c.382+1172A>G
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 5/13 chr8 18066048
chr8:18066080 T
T
 C
C
 12 a0001c0001t0001g0172
a0001c0001t0001g0226
a0001c0001t0006g0047
others(9): Show 
a0001c0001t0001g0172
a0001c0001t0001g0226
a0001c0001t0006g0047
a0001c0001t0006g0154
a0001c0001t0006g0215
a0001c0001t0006g0217
a0001c0001t0006g0221
a0001c0001t0006g0222
a0001c0001t0006g0224
a0001c0001t0006g0225
a0001c0001t0006g0227
a0001c0008t0006g0218
 13 HG00597.hp2
HG02683.hp1
HG02735.hp1
others(10): Show 
HG00597.hp2
HG02683.hp1
HG02735.hp1
HG03927.hp1
HG04184.hp1
NA18939.hp2
NA18940.hp2
NA18970.hp2
NA18979.hp2
NA18986.hp2
NA18995.hp2
NA19060.hp2
NA19064.hp2
 intron_variant MODIFIER c.382+1140A>G
c.382+1140A>G
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 5/13 chr8 18066080
chr8:18066177 A
A
 G
G
 1 a0001c0007t0023g0279
a0001c0007t0023g0279
 1 HG02257.hp2
HG02257.hp2
 intron_variant MODIFIER c.382+1043T>C
c.382+1043T>C
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 5/13 chr8 18066177
chr8:18066245 C
C
 T
T
 1 a0002c0002t0002g0092
a0002c0002t0002g0092
 1 HG02071.hp1
HG02071.hp1
 intron_variant MODIFIER c.382+975G>A
c.382+975G>A
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 5/13 chr8 18066245
chr8:18066283 A
A
 C
C
 1 a0001c0001t0013g0281
a0001c0001t0013g0281
 1 HG02976.hp2
HG02976.hp2
 intron_variant MODIFIER c.382+937T>G
c.382+937T>G
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 5/13 chr8 18066283
chr8:18066404 A
A
 C
C
 2 a0003c0003t0009g0062
a0003c0003t0009g0199
a0003c0003t0009g0062
a0003c0003t0009g0199
 2 HG02109.hp2
HG03453.hp2
HG02109.hp2
HG03453.hp2
 intron_variant MODIFIER c.382+816T>G
c.382+816T>G
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 5/13 chr8 18066404
chr8:18066422 C
C
 CA
CA
 31 a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0019
others(28): Show 
a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0019
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0123
a0001c0001t0001g0169
a0001c0001t0001g0177
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0190
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0214
a0001c0001t0001g0231
a0001c0001t0001g0256
a0001c0001t0001g0261
a0001c0001t0001g0284
a0001c0001t0012g0050
a0001c0001t0012g0262
a0001c0001t0015g0162
a0001c0001t0016g0043
a0001c0001t0032g0176
a0001c0001t0034g0186
a0003c0003t0001g0005
a0003c0003t0001g0125
a0003c0003t0001g0129
a0003c0003t0001g0163
 55 HG00099.hp2
HG00423.hp1
HG00558.hp2
others(52): Show 
HG00099.hp2
HG00423.hp1
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG01243.hp1
HG01256.hp2
HG01928.hp1
HG01981.hp1
HG02027.hp1
HG02040.hp2
HG02056.hp1
HG02071.hp2
HG02080.hp1
HG02129.hp1
HG02135.hp1
HG02523.hp2
NA18612.hp2
NA18942.hp2
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18947.hp2
NA18950.hp2
NA18954.hp1
NA18956.hp1
NA18960.hp1
NA18967.hp1
NA18968.hp2
NA18974.hp1
NA18974.hp2
NA18975.hp1
NA18978.hp1
NA18982.hp1
NA18992.hp1
NA18997.hp1
NA18998.hp2
NA19001.hp1
NA19006.hp2
NA19011.hp2
NA19057.hp2
NA19058.hp2
NA19062.hp1
NA19062.hp2
NA19066.hp1
NA19074.hp1
NA19074.hp2
NA19081.hp1
NA19083.hp1
NA19083.hp2
NA19084.hp2
NA19087.hp2
NA19088.hp1
NA19090.hp1
NA20752.hp2
 intron_variant MODIFIER c.382+797dupT
c.382+797dupT
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 5/13 chr8 18066422
chr8:18066422 CA
CA
 C
C
 94 a0001c0001t0002g0042
a0001c0001t0002g0165
a0001c0001t0002g0166
others(91): Show 
a0001c0001t0002g0042
a0001c0001t0002g0165
a0001c0001t0002g0166
a0001c0001t0002g0173
a0001c0001t0002g0188
a0001c0001t0002g0189
a0001c0001t0002g0191
a0001c0001t0002g0195
a0001c0001t0002g0201
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0029
a0001c0001t0004g0065
a0001c0001t0004g0066
a0001c0001t0004g0067
a0001c0001t0004g0068
a0001c0001t0004g0069
a0001c0001t0004g0070
a0001c0001t0004g0071
a0001c0001t0004g0079
a0001c0001t0004g0080
a0001c0001t0004g0083
a0001c0001t0004g0084
a0001c0001t0004g0089
a0001c0001t0004g0090
a0001c0001t0007g0078
a0001c0001t0007g0228
a0001c0001t0007g0229
a0001c0001t0007g0260
a0001c0001t0013g0281
a0001c0001t0021g0057
a0001c0001t0022g0082
a0001c0007t0023g0279
a0002c0002t0001g0013
a0002c0002t0001g0032
a0002c0002t0001g0136
a0002c0002t0001g0150
a0002c0002t0002g0001
a0002c0002t0002g0008
a0002c0002t0002g0017
a0002c0002t0002g0018
a0002c0002t0002g0021
a0002c0002t0002g0028
a0002c0002t0002g0034
a0002c0002t0002g0035
a0002c0002t0002g0036
a0002c0002t0002g0037
a0002c0002t0002g0038
a0002c0002t0002g0039
a0002c0002t0002g0055
a0002c0002t0002g0092
a0002c0002t0002g0093
a0002c0002t0002g0099
a0002c0002t0002g0100
a0002c0002t0002g0120
a0002c0002t0002g0131
a0002c0002t0002g0132
a0002c0002t0002g0133
a0002c0002t0002g0135
a0002c0002t0002g0137
a0002c0002t0002g0138
a0002c0002t0002g0139
a0002c0002t0002g0140
a0002c0002t0002g0141
a0002c0002t0002g0142
a0002c0002t0002g0143
a0002c0002t0002g0144
a0002c0002t0002g0145
a0002c0002t0002g0146
a0002c0002t0002g0148
a0002c0002t0002g0149
a0002c0002t0002g0152
a0002c0002t0002g0155
a0002c0002t0002g0157
a0002c0002t0002g0196
a0002c0002t0002g0209
a0002c0002t0002g0258
a0002c0002t0002g0285
a0002c0002t0003g0108
a0002c0002t0003g0248
a0002c0002t0006g0147
a0002c0002t0018g0270
a0002c0002t0033g0053
a0002c0002t0035g0286
a0003c0003t0001g0051
a0003c0003t0001g0269
a0003c0003t0009g0014
a0003c0003t0009g0062
a0003c0003t0009g0199
a0003c0003t0009g0219
a0003c0003t0017g0272
a0005c0005t0011g0046
a0005c0005t0011g0211
a0005c0005t0011g0212
 144 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(141): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00323.hp1
HG00438.hp2
HG00639.hp1
HG00642.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01070.hp2
HG01081.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01243.hp2
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01496.hp1
HG01516.hp2
HG01517.hp1
HG01884.hp2
HG01934.hp2
HG01952.hp1
HG01978.hp1
HG02004.hp2
HG02056.hp2
HG02071.hp1
HG02080.hp2
HG02109.hp2
HG02129.hp2
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02257.hp1
HG02257.hp2
HG02273.hp1
HG02273.hp2
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp2
HG02486.hp1
HG02523.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02647.hp2
HG02683.hp2
HG02698.hp2
HG02723.hp1
HG02735.hp2
HG02738.hp2
HG02818.hp1
HG02896.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03017.hp1
HG03041.hp2
HG03098.hp2
HG03195.hp1
HG03225.hp1
HG03239.hp1
HG03453.hp2
HG03486.hp1
HG03486.hp2
HG03492.hp2
HG03540.hp1
HG03540.hp2
HG03688.hp2
HG03710.hp2
HG03831.hp2
HG03834.hp1
HG03942.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp2
NA18612.hp1
NA18747.hp1
NA18941.hp1
NA18942.hp1
NA18945.hp2
NA18949.hp2
NA18959.hp1
NA18963.hp1
NA18965.hp1
NA18966.hp2
NA18967.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18972.hp1
NA18975.hp2
NA18977.hp1
NA18981.hp1
NA18982.hp2
NA18983.hp1
NA18984.hp2
NA18993.hp1
NA18995.hp1
NA18999.hp1
NA19004.hp2
NA19043.hp1
NA19054.hp1
NA19054.hp2
NA19055.hp1
NA19056.hp1
NA19058.hp1
NA19060.hp1
NA19063.hp1
NA19066.hp2
NA19067.hp2
NA19068.hp2
NA19076.hp2
NA19077.hp1
NA19086.hp1
NA19086.hp2
NA19090.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.382+797delT
c.382+797delT
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 5/13 chr8 18066422
chr8:18066422 CAA
CAA
 C
C
 95 a0001c0001t0002g0251
a0001c0001t0004g0081
a0001c0001t0007g0058
others(92): Show 
a0001c0001t0002g0251
a0001c0001t0004g0081
a0001c0001t0007g0058
a0001c0001t0007g0064
a0001c0001t0007g0073
a0001c0001t0007g0074
a0001c0001t0007g0075
a0001c0001t0007g0077
a0001c0001t0020g0076
a0002c0002t0002g0151
a0002c0002t0002g0156
a0002c0002t0002g0240
a0002c0002t0003g0004
a0002c0002t0003g0006
a0002c0002t0003g0025
a0002c0002t0003g0031
a0002c0002t0003g0048
a0002c0002t0003g0049
a0002c0002t0003g0059
a0002c0002t0003g0060
a0002c0002t0003g0061
a0002c0002t0003g0091
a0002c0002t0003g0095
a0002c0002t0003g0096
a0002c0002t0003g0097
a0002c0002t0003g0098
a0002c0002t0003g0101
a0002c0002t0003g0103
a0002c0002t0003g0105
a0002c0002t0003g0106
a0002c0002t0003g0109
a0002c0002t0003g0111
a0002c0002t0003g0113
a0002c0002t0003g0115
a0002c0002t0003g0116
a0002c0002t0003g0118
a0002c0002t0003g0134
a0002c0002t0003g0160
a0002c0002t0003g0210
a0002c0002t0003g0232
a0002c0002t0003g0233
a0002c0002t0003g0236
a0002c0002t0003g0237
a0002c0002t0003g0238
a0002c0002t0003g0239
a0002c0002t0003g0244
a0002c0002t0003g0245
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0250
a0002c0002t0003g0252
a0002c0002t0003g0253
a0002c0002t0003g0255
a0002c0002t0003g0266
a0002c0002t0003g0267
a0002c0002t0003g0273
a0002c0002t0003g0274
a0002c0002t0003g0275
a0002c0002t0004g0112
a0002c0002t0005g0241
a0002c0002t0019g0243
a0002c0002t0025g0054
a0002c0002t0027g0242
a0002c0002t0028g0249
a0002c0002t0029g0107
a0002c0002t0030g0254
a0003c0003t0001g0127
a0003c0003t0002g0223
a0003c0003t0005g0024
a0003c0003t0005g0026
a0003c0003t0005g0056
a0003c0003t0005g0063
a0003c0003t0005g0168
a0003c0003t0005g0206
a0003c0003t0005g0263
a0003c0003t0005g0264
a0003c0003t0005g0265
a0003c0003t0005g0276
a0003c0003t0005g0277
a0003c0003t0008g0022
a0003c0003t0008g0030
a0003c0003t0008g0086
a0003c0003t0008g0087
a0003c0003t0008g0088
a0003c0003t0009g0198
a0003c0003t0010g0052
a0003c0003t0010g0164
a0003c0003t0010g0283
a0003c0003t0024g0282
a0003c0003t0026g0268
a0004c0004t0003g0007
a0004c0004t0003g0114
a0006c0006t0003g0023
a0006c0006t0003g0130
a0006c0006t0003g0234
 127 HG00323.hp2
HG00423.hp2
HG00438.hp1
others(124): Show 
HG00323.hp2
HG00423.hp2
HG00438.hp1
HG00558.hp1
HG00597.hp1
HG00621.hp1
HG00621.hp2
HG01099.hp1
HG01106.hp2
HG01167.hp1
HG01169.hp1
HG01256.hp1
HG01261.hp1
HG01358.hp1
HG01884.hp1
HG01891.hp1
HG01891.hp2
HG01943.hp2
HG01975.hp2
HG02027.hp2
HG02040.hp1
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02145.hp2
HG02148.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp2
HG02559.hp1
HG02572.hp2
HG02602.hp1
HG02622.hp2
HG02630.hp2
HG02647.hp1
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG03041.hp1
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03225.hp2
HG03239.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03491.hp1
HG03579.hp1
HG03579.hp2
HG03669.hp2
HG03704.hp1
HG03831.hp1
HG03834.hp2
HG04115.hp1
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18940.hp1
NA18941.hp2
NA18943.hp1
NA18944.hp1
NA18947.hp1
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18950.hp1
NA18952.hp1
NA18953.hp2
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp2
NA18960.hp2
NA18962.hp2
NA18965.hp2
NA18966.hp1
NA18977.hp2
NA18978.hp2
NA18979.hp1
NA18981.hp2
NA18983.hp2
NA18984.hp1
NA18986.hp1
NA18988.hp1
NA18991.hp1
NA18992.hp2
NA18998.hp1
NA18999.hp2
NA19001.hp2
NA19004.hp1
NA19007.hp2
NA19010.hp1
NA19011.hp1
NA19043.hp2
NA19057.hp1
NA19063.hp2
NA19064.hp1
NA19067.hp1
NA19068.hp1
NA19081.hp2
NA19082.hp1
NA19084.hp1
NA19087.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20752.hp1
NA20905.hp2
NA21309.hp2
 intron_variant MODIFIER c.382+796_382+797del
others(2): Show 
c.382+796_382+797delTT
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 5/13 chr8 18066422
chr8:18066517 A
A
 C
C
 1 a0002c0002t0002g0140
a0002c0002t0002g0140
 1 HG02965.hp2
HG02965.hp2
 intron_variant MODIFIER c.382+703T>G
c.382+703T>G
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 5/13 chr8 18066517
chr8:18066546 CA
CA
 C
C
 138 a0001c0001t0002g0042
a0001c0001t0002g0165
a0001c0001t0002g0166
others(135): Show 
a0001c0001t0002g0042
a0001c0001t0002g0165
a0001c0001t0002g0166
a0001c0001t0002g0173
a0001c0001t0002g0188
a0001c0001t0002g0189
a0001c0001t0002g0191
a0001c0001t0002g0195
a0001c0001t0002g0201
a0002c0002t0001g0013
a0002c0002t0001g0032
a0002c0002t0001g0136
a0002c0002t0001g0150
a0002c0002t0002g0001
a0002c0002t0002g0008
a0002c0002t0002g0017
a0002c0002t0002g0018
a0002c0002t0002g0021
a0002c0002t0002g0028
a0002c0002t0002g0034
a0002c0002t0002g0035
a0002c0002t0002g0037
a0002c0002t0002g0038
a0002c0002t0002g0039
a0002c0002t0002g0055
a0002c0002t0002g0092
a0002c0002t0002g0093
a0002c0002t0002g0099
a0002c0002t0002g0100
a0002c0002t0002g0120
a0002c0002t0002g0131
a0002c0002t0002g0132
a0002c0002t0002g0133
a0002c0002t0002g0135
a0002c0002t0002g0139
a0002c0002t0002g0140
a0002c0002t0002g0141
a0002c0002t0002g0142
a0002c0002t0002g0143
a0002c0002t0002g0146
a0002c0002t0002g0148
a0002c0002t0002g0149
a0002c0002t0002g0151
a0002c0002t0002g0152
a0002c0002t0002g0155
a0002c0002t0002g0156
a0002c0002t0002g0157
a0002c0002t0002g0196
a0002c0002t0002g0209
a0002c0002t0002g0240
a0002c0002t0002g0258
a0002c0002t0002g0285
a0002c0002t0003g0004
a0002c0002t0003g0006
a0002c0002t0003g0025
a0002c0002t0003g0031
a0002c0002t0003g0048
a0002c0002t0003g0049
a0002c0002t0003g0059
a0002c0002t0003g0060
a0002c0002t0003g0061
a0002c0002t0003g0091
a0002c0002t0003g0095
a0002c0002t0003g0096
a0002c0002t0003g0097
a0002c0002t0003g0098
a0002c0002t0003g0101
a0002c0002t0003g0103
a0002c0002t0003g0105
a0002c0002t0003g0106
a0002c0002t0003g0108
a0002c0002t0003g0109
a0002c0002t0003g0111
a0002c0002t0003g0113
a0002c0002t0003g0115
a0002c0002t0003g0116
a0002c0002t0003g0118
a0002c0002t0003g0134
a0002c0002t0003g0160
a0002c0002t0003g0210
a0002c0002t0003g0232
a0002c0002t0003g0233
a0002c0002t0003g0236
a0002c0002t0003g0237
a0002c0002t0003g0238
a0002c0002t0003g0239
a0002c0002t0003g0244
a0002c0002t0003g0245
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0248
a0002c0002t0003g0250
a0002c0002t0003g0252
a0002c0002t0003g0253
a0002c0002t0003g0255
a0002c0002t0003g0266
a0002c0002t0003g0267
a0002c0002t0003g0273
a0002c0002t0003g0274
a0002c0002t0003g0275
a0002c0002t0004g0112
a0002c0002t0005g0241
a0002c0002t0006g0147
a0002c0002t0019g0243
a0002c0002t0027g0242
a0002c0002t0028g0249
a0002c0002t0029g0107
a0002c0002t0030g0254
a0002c0002t0035g0286
a0003c0003t0001g0127
a0003c0003t0002g0223
a0003c0003t0005g0024
a0003c0003t0005g0026
a0003c0003t0005g0056
a0003c0003t0005g0063
a0003c0003t0005g0168
a0003c0003t0005g0206
a0003c0003t0005g0263
a0003c0003t0005g0264
a0003c0003t0005g0265
a0003c0003t0005g0276
a0003c0003t0005g0277
a0003c0003t0008g0022
a0003c0003t0008g0030
a0003c0003t0008g0085
a0003c0003t0008g0086
a0003c0003t0008g0087
a0003c0003t0008g0088
a0003c0003t0010g0052
a0003c0003t0010g0164
a0003c0003t0010g0283
a0003c0003t0024g0282
a0003c0003t0026g0268
a0004c0004t0003g0007
a0004c0004t0003g0114
a0006c0006t0003g0023
a0006c0006t0003g0130
a0006c0006t0003g0234
 207 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(204): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00323.hp1
HG00423.hp2
HG00438.hp1
HG00558.hp1
HG00597.hp1
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00642.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01070.hp2
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01255.hp2
HG01256.hp1
HG01257.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01358.hp1
HG01361.hp2
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01891.hp1
HG01891.hp2
HG01934.hp2
HG01943.hp2
HG01975.hp2
HG01978.hp1
HG02004.hp2
HG02040.hp1
HG02056.hp2
HG02071.hp1
HG02080.hp2
HG02083.hp2
HG02109.hp1
HG02129.hp2
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp2
HG02300.hp2
HG02451.hp2
HG02486.hp1
HG02523.hp1
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02622.hp2
HG02630.hp2
HG02647.hp1
HG02717.hp1
HG02717.hp2
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03492.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp2
HG03688.hp2
HG03704.hp1
HG03831.hp1
HG03831.hp2
HG03834.hp2
HG03942.hp2
HG04115.hp2
HG04204.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18940.hp1
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18944.hp1
NA18947.hp1
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18950.hp1
NA18952.hp1
NA18953.hp2
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp2
NA18959.hp1
NA18960.hp2
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp2
NA18979.hp1
NA18981.hp1
NA18981.hp2
NA18982.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18988.hp1
NA18991.hp1
NA18992.hp2
NA18993.hp1
NA18998.hp1
NA18999.hp2
NA19001.hp2
NA19004.hp1
NA19007.hp2
NA19010.hp1
NA19011.hp1
NA19043.hp2
NA19054.hp1
NA19055.hp1
NA19056.hp1
NA19057.hp1
NA19058.hp1
NA19060.hp1
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19076.hp2
NA19077.hp1
NA19081.hp2
NA19082.hp1
NA19084.hp1
NA19086.hp2
NA19087.hp1
NA19088.hp2
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20752.hp1
NA20805.hp1
NA20805.hp2
NA20905.hp2
 intron_variant MODIFIER c.382+673delT
c.382+673delT
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 5/13 chr8 18066546
chr8:18066546 CAA
CAA
 C
C
 9 a0002c0002t0033g0053
a0003c0003t0001g0051
a0003c0003t0001g0269
others(6): Show 
a0002c0002t0033g0053
a0003c0003t0001g0051
a0003c0003t0001g0269
a0003c0003t0009g0014
a0003c0003t0009g0062
a0003c0003t0009g0198
a0003c0003t0009g0199
a0003c0003t0009g0219
a0003c0003t0017g0272
 13 HG02109.hp2
HG02559.hp2
HG02647.hp2
others(10): Show 
HG02109.hp2
HG02559.hp2
HG02647.hp2
HG02683.hp2
HG02723.hp1
HG02735.hp2
HG02818.hp1
HG02896.hp1
HG02897.hp2
HG03453.hp2
HG03710.hp2
HG04228.hp1
NA19240.hp1
 intron_variant MODIFIER c.382+672_382+673del
others(2): Show 
c.382+672_382+673delTT
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 5/13 chr8 18066546
chr8:18066555 A
A
 G
G
 2 a0002c0002t0018g0270
a0002c0002t0025g0054
a0002c0002t0018g0270
a0002c0002t0025g0054
 2 HG03540.hp2
NA21309.hp2
HG03540.hp2
NA21309.hp2
 intron_variant MODIFIER c.382+665T>C
c.382+665T>C
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 5/13 chr8 18066555
chr8:18066557 G
G
 A
A
 2 a0002c0002t0018g0270
a0002c0002t0025g0054
a0002c0002t0018g0270
a0002c0002t0025g0054
 2 HG03540.hp2
NA21309.hp2
HG03540.hp2
NA21309.hp2
 intron_variant MODIFIER c.382+663C>T
c.382+663C>T
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 5/13 chr8 18066557
chr8:18066595 A
A
 C
C
 2 a0005c0005t0011g0211
a0005c0005t0011g0212
a0005c0005t0011g0211
a0005c0005t0011g0212
 2 HG02698.hp2
HG03017.hp1
HG02698.hp2
HG03017.hp1
 intron_variant MODIFIER c.382+625T>G
c.382+625T>G
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 5/13 chr8 18066595
chr8:18066871 C
C
 T
T
 1 a0002c0002t0003g0110
a0002c0002t0003g0110
 1 NA18991.hp2
NA18991.hp2
 intron_variant MODIFIER c.382+349G>A
c.382+349G>A
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 5/13 chr8 18066871
chr8:18066899 C
C
 A
A
 8 a0003c0003t0001g0051
a0003c0003t0001g0269
a0003c0003t0009g0014
others(5): Show 
a0003c0003t0001g0051
a0003c0003t0001g0269
a0003c0003t0009g0014
a0003c0003t0009g0062
a0003c0003t0009g0198
a0003c0003t0009g0199
a0003c0003t0009g0219
a0003c0003t0017g0272
 12 HG02109.hp2
HG02647.hp2
HG02683.hp2
others(9): Show 
HG02109.hp2
HG02647.hp2
HG02683.hp2
HG02723.hp1
HG02735.hp2
HG02818.hp1
HG02896.hp1
HG02897.hp2
HG03453.hp2
HG03710.hp2
HG04228.hp1
NA19240.hp1
 intron_variant MODIFIER c.382+321G>T
c.382+321G>T
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 5/13 chr8 18066899
chr8:18067071 G
G
 A
A
 4 a0003c0003t0005g0026
a0003c0003t0005g0056
a0003c0003t0005g0168
others(1): Show 
a0003c0003t0005g0026
a0003c0003t0005g0056
a0003c0003t0005g0168
a0003c0003t0005g0206
 6 HG01891.hp2
HG02258.hp2
HG02630.hp2
others(3): Show 
HG01891.hp2
HG02258.hp2
HG02630.hp2
HG02809.hp1
HG02818.hp2
NA18522.hp1
 intron_variant MODIFIER c.382+149C>T
c.382+149C>T
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 5/13 chr8 18067071
chr8:18067100 T
T
 TGCACCTG
others(22): Show 
TGCACCTGTGCTGTATATCTAAGACATACA
 53 a0001c0001t0002g0165
a0001c0001t0002g0166
a0001c0001t0002g0173
others(50): Show 
a0001c0001t0002g0165
a0001c0001t0002g0166
a0001c0001t0002g0173
a0001c0001t0002g0189
a0001c0001t0002g0191
a0002c0002t0001g0013
a0002c0002t0001g0032
a0002c0002t0001g0136
a0002c0002t0001g0150
a0002c0002t0002g0001
a0002c0002t0002g0008
a0002c0002t0002g0017
a0002c0002t0002g0018
a0002c0002t0002g0021
a0002c0002t0002g0028
a0002c0002t0002g0034
a0002c0002t0002g0035
a0002c0002t0002g0036
a0002c0002t0002g0037
a0002c0002t0002g0038
a0002c0002t0002g0039
a0002c0002t0002g0055
a0002c0002t0002g0092
a0002c0002t0002g0093
a0002c0002t0002g0099
a0002c0002t0002g0100
a0002c0002t0002g0120
a0002c0002t0002g0131
a0002c0002t0002g0132
a0002c0002t0002g0133
a0002c0002t0002g0135
a0002c0002t0002g0139
a0002c0002t0002g0140
a0002c0002t0002g0141
a0002c0002t0002g0142
a0002c0002t0002g0143
a0002c0002t0002g0144
a0002c0002t0002g0145
a0002c0002t0002g0146
a0002c0002t0002g0148
a0002c0002t0002g0149
a0002c0002t0002g0151
a0002c0002t0002g0152
a0002c0002t0002g0155
a0002c0002t0002g0156
a0002c0002t0002g0157
a0002c0002t0002g0196
a0002c0002t0002g0209
a0002c0002t0002g0258
a0002c0002t0002g0285
a0002c0002t0006g0147
a0002c0002t0033g0053
a0002c0002t0035g0286
 90 HG00140.hp2
HG00280.hp1
HG00323.hp1
others(87): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp1
HG00642.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01070.hp2
HG01081.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01243.hp2
HG01255.hp2
HG01256.hp1
HG01257.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01361.hp2
HG01516.hp2
HG01517.hp1
HG01978.hp1
HG02004.hp2
HG02056.hp2
HG02071.hp1
HG02080.hp2
HG02129.hp2
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02273.hp2
HG02300.hp2
HG02486.hp1
HG02523.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp2
HG02615.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03098.hp2
HG03239.hp1
HG03486.hp1
HG03486.hp2
HG03492.hp2
HG03688.hp2
HG03831.hp2
HG03942.hp2
HG06807.hp2
NA18747.hp1
NA18940.hp1
NA18941.hp1
NA18942.hp1
NA18959.hp1
NA18963.hp1
NA18965.hp1
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18975.hp2
NA18977.hp1
NA18981.hp1
NA18982.hp2
NA18983.hp1
NA18984.hp2
NA18993.hp1
NA19054.hp1
NA19056.hp1
NA19058.hp1
NA19060.hp1
NA19063.hp1
NA19066.hp2
NA19067.hp2
NA19068.hp2
NA19076.hp2
NA19077.hp1
NA19086.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.382+91_382+119dupT
others(28): Show 
c.382+91_382+119dupTGTATGTCTTAGATATACAGCACAGGTGC
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 5/13 chr8 18067100
chr8:18067100 T
T
 TGCACCTG
others(51): Show 
TGCACCTGTGCTGTATATCTAAGACATACAGCACCTGTGCTGTATATCTA
AGACATACA
 2 a0001c0001t0002g0042
a0001c0001t0002g0201
a0001c0001t0002g0042
a0001c0001t0002g0201
 3 HG00639.hp1
HG01934.hp2
HG02451.hp2
HG00639.hp1
HG01934.hp2
HG02451.hp2
 intron_variant MODIFIER c.382+119_382+120ins
others(58): Show 
c.382+119_382+120insTGTATGTCTTAGATATACAGCACAGGTGCT
GTATGTCTTAGATATACAGCACAGGTGC
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 5/13 chr8 18067100
chr8:18067103 ACCTGTGC
others(23): Show 
ACCTGTGCTGTATATCTAAGACATACAGCAC
 A
A
 118 a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0009
others(115): Show 
a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0072
a0001c0001t0001g0102
a0001c0001t0001g0104
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0153
a0001c0001t0001g0158
a0001c0001t0001g0161
a0001c0001t0001g0167
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0187
a0001c0001t0001g0190
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0214
a0001c0001t0001g0226
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0001t0001g0256
a0001c0001t0001g0257
a0001c0001t0001g0259
a0001c0001t0001g0261
a0001c0001t0001g0278
a0001c0001t0001g0284
a0001c0001t0002g0195
a0001c0001t0002g0200
a0001c0001t0002g0216
a0001c0001t0002g0220
a0001c0001t0002g0235
a0001c0001t0002g0251
a0001c0001t0003g0159
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0029
a0001c0001t0004g0065
a0001c0001t0004g0066
a0001c0001t0004g0067
a0001c0001t0004g0068
a0001c0001t0004g0069
a0001c0001t0004g0070
a0001c0001t0004g0071
a0001c0001t0004g0079
a0001c0001t0004g0080
a0001c0001t0004g0081
a0001c0001t0004g0083
a0001c0001t0004g0084
a0001c0001t0004g0089
a0001c0001t0004g0090
a0001c0001t0006g0047
a0001c0001t0006g0154
a0001c0001t0006g0215
a0001c0001t0006g0217
a0001c0001t0006g0221
a0001c0001t0006g0222
a0001c0001t0006g0224
a0001c0001t0006g0225
a0001c0001t0006g0227
a0001c0001t0007g0058
a0001c0001t0007g0064
a0001c0001t0007g0073
a0001c0001t0007g0074
a0001c0001t0007g0075
a0001c0001t0007g0077
a0001c0001t0007g0078
a0001c0001t0007g0228
a0001c0001t0007g0229
a0001c0001t0007g0260
a0001c0001t0012g0050
a0001c0001t0012g0262
a0001c0001t0013g0281
a0001c0001t0014g0027
a0001c0001t0015g0162
a0001c0001t0015g0181
a0001c0001t0016g0043
a0001c0001t0020g0076
a0001c0001t0021g0057
a0001c0001t0022g0082
a0001c0001t0031g0117
a0001c0001t0032g0176
a0001c0001t0034g0186
a0001c0008t0006g0218
a0001c0009t0001g0094
a0005c0005t0001g0213
a0005c0005t0011g0046
a0005c0005t0011g0211
a0005c0005t0011g0212
 168 HG00099.hp1
HG00099.hp2
HG00280.hp2
others(165): Show 
HG00099.hp1
HG00099.hp2
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00438.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG00642.hp2
HG00741.hp1
HG01070.hp1
HG01081.hp1
HG01167.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01243.hp1
HG01255.hp1
HG01256.hp2
HG01257.hp2
HG01261.hp1
HG01358.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp2
HG01884.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02027.hp2
HG02040.hp2
HG02056.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02083.hp1
HG02129.hp1
HG02148.hp2
HG02165.hp1
HG02257.hp1
HG02273.hp1
HG02280.hp1
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02486.hp2
HG02615.hp1
HG02630.hp1
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03491.hp2
HG03492.hp1
HG03540.hp1
HG03669.hp1
HG03688.hp1
HG03704.hp2
HG03710.hp1
HG03834.hp1
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG04115.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
NA18612.hp1
NA18747.hp2
NA18939.hp2
NA18940.hp2
NA18942.hp2
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp2
NA18949.hp2
NA18950.hp2
NA18952.hp2
NA18953.hp1
NA18954.hp1
NA18956.hp1
NA18959.hp2
NA18960.hp1
NA18967.hp1
NA18967.hp2
NA18968.hp2
NA18970.hp2
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18975.hp1
NA18978.hp1
NA18979.hp2
NA18986.hp2
NA18992.hp1
NA18993.hp2
NA18995.hp1
NA18995.hp2
NA18997.hp1
NA18997.hp2
NA18998.hp2
NA18999.hp1
NA19001.hp1
NA19004.hp2
NA19006.hp2
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19054.hp2
NA19055.hp2
NA19056.hp2
NA19057.hp2
NA19058.hp2
NA19060.hp2
NA19062.hp2
NA19064.hp2
NA19066.hp1
NA19074.hp1
NA19077.hp2
NA19081.hp1
NA19082.hp2
NA19083.hp2
NA19084.hp2
NA19086.hp1
NA19087.hp2
NA19088.hp1
NA19090.hp1
NA19090.hp2
NA20752.hp2
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.382+87_382+116delG
others(29): Show 
c.382+87_382+116delGTGCTGTATGTCTTAGATATACAGCACAGG
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 5/13 chr8 18067103
chr8:18067136 G
G
 T
T
 118 a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0009
others(115): Show 
a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0072
a0001c0001t0001g0102
a0001c0001t0001g0104
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0153
a0001c0001t0001g0158
a0001c0001t0001g0161
a0001c0001t0001g0167
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0187
a0001c0001t0001g0190
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0214
a0001c0001t0001g0226
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0001t0001g0256
a0001c0001t0001g0257
a0001c0001t0001g0259
a0001c0001t0001g0261
a0001c0001t0001g0278
a0001c0001t0001g0284
a0001c0001t0002g0195
a0001c0001t0002g0200
a0001c0001t0002g0216
a0001c0001t0002g0220
a0001c0001t0002g0235
a0001c0001t0002g0251
a0001c0001t0003g0159
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0029
a0001c0001t0004g0065
a0001c0001t0004g0066
a0001c0001t0004g0067
a0001c0001t0004g0068
a0001c0001t0004g0069
a0001c0001t0004g0070
a0001c0001t0004g0071
a0001c0001t0004g0079
a0001c0001t0004g0080
a0001c0001t0004g0081
a0001c0001t0004g0083
a0001c0001t0004g0084
a0001c0001t0004g0089
a0001c0001t0004g0090
a0001c0001t0006g0047
a0001c0001t0006g0154
a0001c0001t0006g0215
a0001c0001t0006g0217
a0001c0001t0006g0221
a0001c0001t0006g0222
a0001c0001t0006g0224
a0001c0001t0006g0225
a0001c0001t0006g0227
a0001c0001t0007g0058
a0001c0001t0007g0064
a0001c0001t0007g0073
a0001c0001t0007g0074
a0001c0001t0007g0075
a0001c0001t0007g0077
a0001c0001t0007g0078
a0001c0001t0007g0228
a0001c0001t0007g0229
a0001c0001t0007g0260
a0001c0001t0012g0050
a0001c0001t0012g0262
a0001c0001t0013g0281
a0001c0001t0014g0027
a0001c0001t0015g0162
a0001c0001t0015g0181
a0001c0001t0016g0043
a0001c0001t0020g0076
a0001c0001t0021g0057
a0001c0001t0022g0082
a0001c0001t0031g0117
a0001c0001t0032g0176
a0001c0001t0034g0186
a0001c0008t0006g0218
a0001c0009t0001g0094
a0005c0005t0001g0213
a0005c0005t0011g0046
a0005c0005t0011g0211
a0005c0005t0011g0212
 168 HG00099.hp1
HG00099.hp2
HG00280.hp2
others(165): Show 
HG00099.hp1
HG00099.hp2
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00438.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG00642.hp2
HG00741.hp1
HG01070.hp1
HG01081.hp1
HG01167.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01243.hp1
HG01255.hp1
HG01256.hp2
HG01257.hp2
HG01261.hp1
HG01358.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp2
HG01884.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02027.hp2
HG02040.hp2
HG02056.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02083.hp1
HG02129.hp1
HG02148.hp2
HG02165.hp1
HG02257.hp1
HG02273.hp1
HG02280.hp1
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02486.hp2
HG02615.hp1
HG02630.hp1
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03491.hp2
HG03492.hp1
HG03540.hp1
HG03669.hp1
HG03688.hp1
HG03704.hp2
HG03710.hp1
HG03834.hp1
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG04115.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
NA18612.hp1
NA18747.hp2
NA18939.hp2
NA18940.hp2
NA18942.hp2
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp2
NA18949.hp2
NA18950.hp2
NA18952.hp2
NA18953.hp1
NA18954.hp1
NA18956.hp1
NA18959.hp2
NA18960.hp1
NA18967.hp1
NA18967.hp2
NA18968.hp2
NA18970.hp2
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18975.hp1
NA18978.hp1
NA18979.hp2
NA18986.hp2
NA18992.hp1
NA18993.hp2
NA18995.hp1
NA18995.hp2
NA18997.hp1
NA18997.hp2
NA18998.hp2
NA18999.hp1
NA19001.hp1
NA19004.hp2
NA19006.hp2
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19054.hp2
NA19055.hp2
NA19056.hp2
NA19057.hp2
NA19058.hp2
NA19060.hp2
NA19062.hp2
NA19064.hp2
NA19066.hp1
NA19074.hp1
NA19077.hp2
NA19081.hp1
NA19082.hp2
NA19083.hp2
NA19084.hp2
NA19086.hp1
NA19087.hp2
NA19088.hp1
NA19090.hp1
NA19090.hp2
NA20752.hp2
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.382+84C>A
c.382+84C>A
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 5/13 chr8 18067136
chr8:18067161 T
T
 C
C
 12 a0001c0001t0001g0172
a0001c0001t0001g0226
a0001c0001t0006g0047
others(9): Show 
a0001c0001t0001g0172
a0001c0001t0001g0226
a0001c0001t0006g0047
a0001c0001t0006g0154
a0001c0001t0006g0215
a0001c0001t0006g0217
a0001c0001t0006g0221
a0001c0001t0006g0222
a0001c0001t0006g0224
a0001c0001t0006g0225
a0001c0001t0006g0227
a0001c0008t0006g0218
 13 HG00597.hp2
HG02683.hp1
HG02735.hp1
others(10): Show 
HG00597.hp2
HG02683.hp1
HG02735.hp1
HG03927.hp1
HG04184.hp1
NA18939.hp2
NA18940.hp2
NA18970.hp2
NA18979.hp2
NA18986.hp2
NA18995.hp2
NA19060.hp2
NA19064.hp2
 intron_variant MODIFIER c.382+59A>G
c.382+59A>G
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 5/13 chr8 18067161
chr8:18067340 C
C
 T
T
 126 a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0009
others(123): Show 
a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0072
a0001c0001t0001g0102
a0001c0001t0001g0104
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0153
a0001c0001t0001g0158
a0001c0001t0001g0161
a0001c0001t0001g0167
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0187
a0001c0001t0001g0190
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0214
a0001c0001t0001g0226
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0001t0001g0256
a0001c0001t0001g0257
a0001c0001t0001g0259
a0001c0001t0001g0261
a0001c0001t0001g0278
a0001c0001t0001g0284
a0001c0001t0002g0195
a0001c0001t0002g0200
a0001c0001t0002g0216
a0001c0001t0002g0220
a0001c0001t0002g0235
a0001c0001t0002g0251
a0001c0001t0003g0159
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0029
a0001c0001t0004g0065
a0001c0001t0004g0066
a0001c0001t0004g0067
a0001c0001t0004g0068
a0001c0001t0004g0069
a0001c0001t0004g0070
a0001c0001t0004g0071
a0001c0001t0004g0079
a0001c0001t0004g0080
a0001c0001t0004g0081
a0001c0001t0004g0083
a0001c0001t0004g0084
a0001c0001t0004g0089
a0001c0001t0004g0090
a0001c0001t0006g0047
a0001c0001t0006g0154
a0001c0001t0006g0215
a0001c0001t0006g0217
a0001c0001t0006g0221
a0001c0001t0006g0222
a0001c0001t0006g0224
a0001c0001t0006g0225
a0001c0001t0006g0227
a0001c0001t0007g0058
a0001c0001t0007g0064
a0001c0001t0007g0073
a0001c0001t0007g0074
a0001c0001t0007g0075
a0001c0001t0007g0077
a0001c0001t0007g0078
a0001c0001t0007g0228
a0001c0001t0007g0229
a0001c0001t0007g0260
a0001c0001t0012g0050
a0001c0001t0012g0262
a0001c0001t0013g0281
a0001c0001t0014g0027
a0001c0001t0015g0162
a0001c0001t0015g0181
a0001c0001t0016g0043
a0001c0001t0020g0076
a0001c0001t0021g0057
a0001c0001t0022g0082
a0001c0001t0031g0117
a0001c0001t0032g0176
a0001c0001t0034g0186
a0001c0008t0006g0218
a0001c0009t0001g0094
a0003c0003t0001g0051
a0003c0003t0001g0269
a0003c0003t0009g0014
a0003c0003t0009g0062
a0003c0003t0009g0198
a0003c0003t0009g0199
a0003c0003t0009g0219
a0003c0003t0017g0272
a0005c0005t0001g0213
a0005c0005t0011g0046
a0005c0005t0011g0211
a0005c0005t0011g0212
 180 HG00099.hp1
HG00099.hp2
HG00280.hp2
others(177): Show 
HG00099.hp1
HG00099.hp2
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00438.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG00642.hp2
HG00741.hp1
HG01070.hp1
HG01081.hp1
HG01167.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01243.hp1
HG01255.hp1
HG01256.hp2
HG01257.hp2
HG01261.hp1
HG01358.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp2
HG01884.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02027.hp2
HG02040.hp2
HG02056.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02083.hp1
HG02109.hp2
HG02129.hp1
HG02148.hp2
HG02165.hp1
HG02257.hp1
HG02273.hp1
HG02280.hp1
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02486.hp2
HG02615.hp1
HG02630.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02818.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03453.hp2
HG03491.hp2
HG03492.hp1
HG03540.hp1
HG03669.hp1
HG03688.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03834.hp1
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG04115.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp1
NA18612.hp1
NA18747.hp2
NA18939.hp2
NA18940.hp2
NA18942.hp2
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp2
NA18949.hp2
NA18950.hp2
NA18952.hp2
NA18953.hp1
NA18954.hp1
NA18956.hp1
NA18959.hp2
NA18960.hp1
NA18967.hp1
NA18967.hp2
NA18968.hp2
NA18970.hp2
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18975.hp1
NA18978.hp1
NA18979.hp2
NA18986.hp2
NA18992.hp1
NA18993.hp2
NA18995.hp1
NA18995.hp2
NA18997.hp1
NA18997.hp2
NA18998.hp2
NA18999.hp1
NA19001.hp1
NA19004.hp2
NA19006.hp2
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19054.hp2
NA19055.hp2
NA19056.hp2
NA19057.hp2
NA19058.hp2
NA19060.hp2
NA19062.hp2
NA19064.hp2
NA19066.hp1
NA19074.hp1
NA19077.hp2
NA19081.hp1
NA19082.hp2
NA19083.hp2
NA19084.hp2
NA19086.hp1
NA19087.hp2
NA19088.hp1
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA20752.hp2
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.304-42G>A
c.304-42G>A
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 4/13 chr8 18067340
chr8:18067357 T
T
 C
C
 1 a0003c0003t0013g0271
a0003c0003t0013g0271
 1 HG02451.hp1
HG02451.hp1
 intron_variant MODIFIER c.304-59A>G
c.304-59A>G
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 4/13 chr8 18067357
chr8:18067479 T
T
 A
A
 1 a0001c0001t0001g0187
a0001c0001t0001g0187
 1 NA19030.hp1
NA19030.hp1
 intron_variant MODIFIER c.304-181A>T
c.304-181A>T
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 4/13 chr8 18067479
chr8:18067575 T
T
 C
C
 2 a0001c0001t0001g0167
a0001c0001t0001g0179
a0001c0001t0001g0167
a0001c0001t0001g0179
 2 HG02280.hp1
HG02486.hp2
HG02280.hp1
HG02486.hp2
 intron_variant MODIFIER c.304-277A>G
c.304-277A>G
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 4/13 chr8 18067575
chr8:18067605 C
C
 T
T
 1 a0001c0007t0023g0279
a0001c0007t0023g0279
 1 HG02257.hp2
HG02257.hp2
 intron_variant MODIFIER c.304-307G>A
c.304-307G>A
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 4/13 chr8 18067605
chr8:18067622 C
C
 T
T
 1 a0003c0003t0001g0126
a0003c0003t0001g0126
 1 NA18988.hp2
NA18988.hp2
 intron_variant MODIFIER c.304-324G>A
c.304-324G>A
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 4/13 chr8 18067622
chr8:18067642 C
C
 T
T
 126 a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0009
others(123): Show 
a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0072
a0001c0001t0001g0102
a0001c0001t0001g0104
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0153
a0001c0001t0001g0158
a0001c0001t0001g0161
a0001c0001t0001g0167
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0187
a0001c0001t0001g0190
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0214
a0001c0001t0001g0226
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0001t0001g0256
a0001c0001t0001g0257
a0001c0001t0001g0259
a0001c0001t0001g0261
a0001c0001t0001g0278
a0001c0001t0001g0284
a0001c0001t0002g0042
a0001c0001t0002g0165
a0001c0001t0002g0166
a0001c0001t0002g0173
a0001c0001t0002g0188
a0001c0001t0002g0189
a0001c0001t0002g0191
a0001c0001t0002g0195
a0001c0001t0002g0200
a0001c0001t0002g0201
a0001c0001t0002g0216
a0001c0001t0002g0220
a0001c0001t0002g0235
a0001c0001t0002g0251
a0001c0001t0003g0159
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0029
a0001c0001t0004g0065
a0001c0001t0004g0066
a0001c0001t0004g0067
a0001c0001t0004g0068
a0001c0001t0004g0069
a0001c0001t0004g0070
a0001c0001t0004g0071
a0001c0001t0004g0079
a0001c0001t0004g0080
a0001c0001t0004g0081
a0001c0001t0004g0083
a0001c0001t0004g0084
a0001c0001t0004g0089
a0001c0001t0004g0090
a0001c0001t0006g0047
a0001c0001t0006g0154
a0001c0001t0006g0215
a0001c0001t0006g0217
a0001c0001t0006g0221
a0001c0001t0006g0222
a0001c0001t0006g0224
a0001c0001t0006g0225
a0001c0001t0006g0227
a0001c0001t0007g0058
a0001c0001t0007g0064
a0001c0001t0007g0073
a0001c0001t0007g0074
a0001c0001t0007g0075
a0001c0001t0007g0077
a0001c0001t0007g0078
a0001c0001t0007g0228
a0001c0001t0007g0229
a0001c0001t0007g0260
a0001c0001t0012g0050
a0001c0001t0012g0262
a0001c0001t0013g0281
a0001c0001t0014g0027
a0001c0001t0015g0162
a0001c0001t0015g0181
a0001c0001t0016g0043
a0001c0001t0020g0076
a0001c0001t0021g0057
a0001c0001t0022g0082
a0001c0001t0031g0117
a0001c0001t0032g0176
a0001c0001t0034g0186
a0001c0008t0006g0218
a0001c0009t0001g0094
a0005c0005t0001g0213
a0005c0005t0011g0046
a0005c0005t0011g0211
a0005c0005t0011g0212
 177 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(174): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00438.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp2
HG00738.hp2
HG00741.hp1
HG01070.hp1
HG01081.hp1
HG01081.hp2
HG01109.hp1
HG01167.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01243.hp1
HG01255.hp1
HG01256.hp2
HG01257.hp2
HG01261.hp1
HG01261.hp2
HG01358.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp2
HG01884.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp2
HG02040.hp2
HG02056.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02083.hp1
HG02129.hp1
HG02148.hp2
HG02165.hp1
HG02257.hp1
HG02273.hp1
HG02280.hp1
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02451.hp2
HG02486.hp2
HG02615.hp1
HG02630.hp1
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03491.hp2
HG03492.hp1
HG03540.hp1
HG03669.hp1
HG03688.hp1
HG03704.hp2
HG03710.hp1
HG03834.hp1
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG04115.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
NA18612.hp1
NA18747.hp2
NA18939.hp2
NA18940.hp2
NA18942.hp2
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp2
NA18949.hp2
NA18950.hp2
NA18952.hp2
NA18953.hp1
NA18954.hp1
NA18956.hp1
NA18959.hp2
NA18960.hp1
NA18967.hp1
NA18967.hp2
NA18968.hp2
NA18970.hp2
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18975.hp1
NA18978.hp1
NA18979.hp2
NA18986.hp2
NA18992.hp1
NA18993.hp2
NA18995.hp1
NA18995.hp2
NA18997.hp1
NA18997.hp2
NA18998.hp2
NA18999.hp1
NA19001.hp1
NA19004.hp2
NA19006.hp2
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19054.hp2
NA19055.hp2
NA19056.hp2
NA19057.hp2
NA19058.hp2
NA19060.hp2
NA19062.hp2
NA19064.hp2
NA19066.hp1
NA19074.hp1
NA19077.hp2
NA19081.hp1
NA19082.hp2
NA19083.hp2
NA19084.hp2
NA19086.hp1
NA19087.hp2
NA19088.hp1
NA19090.hp1
NA19090.hp2
NA20752.hp2
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.304-344G>A
c.304-344G>A
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 4/13 chr8 18067642
chr8:18067646 A
A
 G
G
 126 a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0009
others(123): Show 
a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0072
a0001c0001t0001g0102
a0001c0001t0001g0104
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0153
a0001c0001t0001g0158
a0001c0001t0001g0161
a0001c0001t0001g0167
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0187
a0001c0001t0001g0190
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0214
a0001c0001t0001g0226
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0001t0001g0256
a0001c0001t0001g0257
a0001c0001t0001g0259
a0001c0001t0001g0261
a0001c0001t0001g0278
a0001c0001t0001g0284
a0001c0001t0002g0042
a0001c0001t0002g0165
a0001c0001t0002g0166
a0001c0001t0002g0173
a0001c0001t0002g0188
a0001c0001t0002g0189
a0001c0001t0002g0191
a0001c0001t0002g0195
a0001c0001t0002g0200
a0001c0001t0002g0201
a0001c0001t0002g0216
a0001c0001t0002g0220
a0001c0001t0002g0235
a0001c0001t0002g0251
a0001c0001t0003g0159
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0029
a0001c0001t0004g0065
a0001c0001t0004g0066
a0001c0001t0004g0067
a0001c0001t0004g0068
a0001c0001t0004g0069
a0001c0001t0004g0070
a0001c0001t0004g0071
a0001c0001t0004g0079
a0001c0001t0004g0080
a0001c0001t0004g0081
a0001c0001t0004g0083
a0001c0001t0004g0084
a0001c0001t0004g0089
a0001c0001t0004g0090
a0001c0001t0006g0047
a0001c0001t0006g0154
a0001c0001t0006g0215
a0001c0001t0006g0217
a0001c0001t0006g0221
a0001c0001t0006g0222
a0001c0001t0006g0224
a0001c0001t0006g0225
a0001c0001t0006g0227
a0001c0001t0007g0058
a0001c0001t0007g0064
a0001c0001t0007g0073
a0001c0001t0007g0074
a0001c0001t0007g0075
a0001c0001t0007g0077
a0001c0001t0007g0078
a0001c0001t0007g0228
a0001c0001t0007g0229
a0001c0001t0007g0260
a0001c0001t0012g0050
a0001c0001t0012g0262
a0001c0001t0013g0281
a0001c0001t0014g0027
a0001c0001t0015g0162
a0001c0001t0015g0181
a0001c0001t0016g0043
a0001c0001t0020g0076
a0001c0001t0021g0057
a0001c0001t0022g0082
a0001c0001t0031g0117
a0001c0001t0032g0176
a0001c0001t0034g0186
a0001c0008t0006g0218
a0001c0009t0001g0094
a0005c0005t0001g0213
a0005c0005t0011g0046
a0005c0005t0011g0211
a0005c0005t0011g0212
 177 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(174): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00438.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp2
HG00738.hp2
HG00741.hp1
HG01070.hp1
HG01081.hp1
HG01081.hp2
HG01109.hp1
HG01167.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01243.hp1
HG01255.hp1
HG01256.hp2
HG01257.hp2
HG01261.hp1
HG01261.hp2
HG01358.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp2
HG01884.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp2
HG02040.hp2
HG02056.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02083.hp1
HG02129.hp1
HG02148.hp2
HG02165.hp1
HG02257.hp1
HG02273.hp1
HG02280.hp1
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02451.hp2
HG02486.hp2
HG02615.hp1
HG02630.hp1
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03491.hp2
HG03492.hp1
HG03540.hp1
HG03669.hp1
HG03688.hp1
HG03704.hp2
HG03710.hp1
HG03834.hp1
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG04115.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
NA18612.hp1
NA18747.hp2
NA18939.hp2
NA18940.hp2
NA18942.hp2
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp2
NA18949.hp2
NA18950.hp2
NA18952.hp2
NA18953.hp1
NA18954.hp1
NA18956.hp1
NA18959.hp2
NA18960.hp1
NA18967.hp1
NA18967.hp2
NA18968.hp2
NA18970.hp2
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18975.hp1
NA18978.hp1
NA18979.hp2
NA18986.hp2
NA18992.hp1
NA18993.hp2
NA18995.hp1
NA18995.hp2
NA18997.hp1
NA18997.hp2
NA18998.hp2
NA18999.hp1
NA19001.hp1
NA19004.hp2
NA19006.hp2
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19054.hp2
NA19055.hp2
NA19056.hp2
NA19057.hp2
NA19058.hp2
NA19060.hp2
NA19062.hp2
NA19064.hp2
NA19066.hp1
NA19074.hp1
NA19077.hp2
NA19081.hp1
NA19082.hp2
NA19083.hp2
NA19084.hp2
NA19086.hp1
NA19087.hp2
NA19088.hp1
NA19090.hp1
NA19090.hp2
NA20752.hp2
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.304-348T>C
c.304-348T>C
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 4/13 chr8 18067646
chr8:18067657 T
T
 C
C
 1 a0001c0009t0001g0094
a0001c0009t0001g0094
 1 NA19055.hp2
NA19055.hp2
 intron_variant MODIFIER c.304-359A>G
c.304-359A>G
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 4/13 chr8 18067657
chr8:18067754 A
A
 G
G
 2 a0003c0003t0005g0063
a0003c0003t0008g0085
a0003c0003t0005g0063
a0003c0003t0008g0085
 2 HG02976.hp1
NA19043.hp2
HG02976.hp1
NA19043.hp2
 intron_variant MODIFIER c.304-456T>C
c.304-456T>C
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 4/13 chr8 18067754
chr8:18067822 A
A
 G
G
 119 a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0009
others(116): Show 
a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0072
a0001c0001t0001g0102
a0001c0001t0001g0104
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0153
a0001c0001t0001g0158
a0001c0001t0001g0161
a0001c0001t0001g0167
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0187
a0001c0001t0001g0190
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0214
a0001c0001t0001g0226
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0001t0001g0256
a0001c0001t0001g0257
a0001c0001t0001g0259
a0001c0001t0001g0261
a0001c0001t0001g0278
a0001c0001t0001g0284
a0001c0001t0002g0195
a0001c0001t0002g0200
a0001c0001t0002g0216
a0001c0001t0002g0220
a0001c0001t0002g0235
a0001c0001t0002g0251
a0001c0001t0003g0159
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0029
a0001c0001t0004g0065
a0001c0001t0004g0066
a0001c0001t0004g0067
a0001c0001t0004g0068
a0001c0001t0004g0069
a0001c0001t0004g0070
a0001c0001t0004g0071
a0001c0001t0004g0079
a0001c0001t0004g0080
a0001c0001t0004g0081
a0001c0001t0004g0083
a0001c0001t0004g0084
a0001c0001t0004g0089
a0001c0001t0004g0090
a0001c0001t0006g0047
a0001c0001t0006g0154
a0001c0001t0006g0215
a0001c0001t0006g0217
a0001c0001t0006g0221
a0001c0001t0006g0222
a0001c0001t0006g0224
a0001c0001t0006g0225
a0001c0001t0006g0227
a0001c0001t0007g0058
a0001c0001t0007g0064
a0001c0001t0007g0073
a0001c0001t0007g0074
a0001c0001t0007g0075
a0001c0001t0007g0077
a0001c0001t0007g0078
a0001c0001t0007g0228
a0001c0001t0007g0229
a0001c0001t0007g0260
a0001c0001t0012g0050
a0001c0001t0012g0262
a0001c0001t0013g0281
a0001c0001t0014g0027
a0001c0001t0015g0162
a0001c0001t0015g0181
a0001c0001t0016g0043
a0001c0001t0020g0076
a0001c0001t0021g0057
a0001c0001t0022g0082
a0001c0001t0031g0117
a0001c0001t0032g0176
a0001c0001t0034g0186
a0001c0008t0006g0218
a0001c0009t0001g0094
a0003c0003t0013g0271
a0005c0005t0001g0213
a0005c0005t0011g0046
a0005c0005t0011g0211
a0005c0005t0011g0212
 169 HG00099.hp1
HG00099.hp2
HG00280.hp2
others(166): Show 
HG00099.hp1
HG00099.hp2
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00438.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG00642.hp2
HG00741.hp1
HG01070.hp1
HG01081.hp1
HG01167.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01243.hp1
HG01255.hp1
HG01256.hp2
HG01257.hp2
HG01261.hp1
HG01358.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp2
HG01884.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02027.hp2
HG02040.hp2
HG02056.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02083.hp1
HG02129.hp1
HG02148.hp2
HG02165.hp1
HG02257.hp1
HG02273.hp1
HG02280.hp1
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02451.hp1
HG02486.hp2
HG02615.hp1
HG02630.hp1
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03491.hp2
HG03492.hp1
HG03540.hp1
HG03669.hp1
HG03688.hp1
HG03704.hp2
HG03710.hp1
HG03834.hp1
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG04115.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
NA18612.hp1
NA18747.hp2
NA18939.hp2
NA18940.hp2
NA18942.hp2
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp2
NA18949.hp2
NA18950.hp2
NA18952.hp2
NA18953.hp1
NA18954.hp1
NA18956.hp1
NA18959.hp2
NA18960.hp1
NA18967.hp1
NA18967.hp2
NA18968.hp2
NA18970.hp2
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18975.hp1
NA18978.hp1
NA18979.hp2
NA18986.hp2
NA18992.hp1
NA18993.hp2
NA18995.hp1
NA18995.hp2
NA18997.hp1
NA18997.hp2
NA18998.hp2
NA18999.hp1
NA19001.hp1
NA19004.hp2
NA19006.hp2
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19054.hp2
NA19055.hp2
NA19056.hp2
NA19057.hp2
NA19058.hp2
NA19060.hp2
NA19062.hp2
NA19064.hp2
NA19066.hp1
NA19074.hp1
NA19077.hp2
NA19081.hp1
NA19082.hp2
NA19083.hp2
NA19084.hp2
NA19086.hp1
NA19087.hp2
NA19088.hp1
NA19090.hp1
NA19090.hp2
NA20752.hp2
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.304-524T>C
c.304-524T>C
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 4/13 chr8 18067822
chr8:18067897 C
C
 T
T
 1 a0006c0006t0003g0130
a0006c0006t0003g0130
 1 HG00438.hp1
HG00438.hp1
 intron_variant MODIFIER c.304-599G>A
c.304-599G>A
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 4/13 chr8 18067897
chr8:18067901 A
A
 G
G
 1 a0003c0003t0001g0269
a0003c0003t0001g0269
 1 HG04228.hp1
HG04228.hp1
 intron_variant MODIFIER c.304-603T>C
c.304-603T>C
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 4/13 chr8 18067901
chr8:18067981 T
T
 C
C
 1 a0003c0003t0008g0087
a0003c0003t0008g0087
 1 NA20129.hp1
NA20129.hp1
 intron_variant MODIFIER c.304-683A>G
c.304-683A>G
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 4/13 chr8 18067981
chr8:18067999 T
T
 A
A
 1 a0003c0003t0005g0276
a0003c0003t0005g0276
 1 HG02717.hp1
HG02717.hp1
 intron_variant MODIFIER c.304-701A>T
c.304-701A>T
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 4/13 chr8 18067999
chr8:18068009 C
C
 T
T
 125 a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0009
others(122): Show 
a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0072
a0001c0001t0001g0102
a0001c0001t0001g0104
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0153
a0001c0001t0001g0158
a0001c0001t0001g0161
a0001c0001t0001g0167
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0187
a0001c0001t0001g0190
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0214
a0001c0001t0001g0226
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0001t0001g0256
a0001c0001t0001g0257
a0001c0001t0001g0259
a0001c0001t0001g0261
a0001c0001t0001g0278
a0001c0001t0001g0284
a0001c0001t0002g0042
a0001c0001t0002g0165
a0001c0001t0002g0166
a0001c0001t0002g0173
a0001c0001t0002g0188
a0001c0001t0002g0189
a0001c0001t0002g0191
a0001c0001t0002g0195
a0001c0001t0002g0200
a0001c0001t0002g0201
a0001c0001t0002g0216
a0001c0001t0002g0220
a0001c0001t0002g0251
a0001c0001t0003g0159
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0029
a0001c0001t0004g0065
a0001c0001t0004g0066
a0001c0001t0004g0067
a0001c0001t0004g0068
a0001c0001t0004g0069
a0001c0001t0004g0070
a0001c0001t0004g0071
a0001c0001t0004g0079
a0001c0001t0004g0080
a0001c0001t0004g0081
a0001c0001t0004g0083
a0001c0001t0004g0084
a0001c0001t0004g0089
a0001c0001t0004g0090
a0001c0001t0006g0047
a0001c0001t0006g0154
a0001c0001t0006g0215
a0001c0001t0006g0217
a0001c0001t0006g0221
a0001c0001t0006g0222
a0001c0001t0006g0224
a0001c0001t0006g0225
a0001c0001t0006g0227
a0001c0001t0007g0058
a0001c0001t0007g0064
a0001c0001t0007g0073
a0001c0001t0007g0074
a0001c0001t0007g0075
a0001c0001t0007g0077
a0001c0001t0007g0078
a0001c0001t0007g0228
a0001c0001t0007g0229
a0001c0001t0007g0260
a0001c0001t0012g0050
a0001c0001t0012g0262
a0001c0001t0013g0281
a0001c0001t0014g0027
a0001c0001t0015g0162
a0001c0001t0015g0181
a0001c0001t0016g0043
a0001c0001t0020g0076
a0001c0001t0021g0057
a0001c0001t0022g0082
a0001c0001t0031g0117
a0001c0001t0032g0176
a0001c0001t0034g0186
a0001c0008t0006g0218
a0001c0009t0001g0094
a0005c0005t0001g0213
a0005c0005t0011g0046
a0005c0005t0011g0211
a0005c0005t0011g0212
 176 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(173): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00438.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp2
HG00738.hp2
HG00741.hp1
HG01070.hp1
HG01081.hp1
HG01081.hp2
HG01109.hp1
HG01167.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01243.hp1
HG01255.hp1
HG01256.hp2
HG01257.hp2
HG01261.hp1
HG01261.hp2
HG01358.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp2
HG01884.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp2
HG02040.hp2
HG02056.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02083.hp1
HG02129.hp1
HG02148.hp2
HG02165.hp1
HG02257.hp1
HG02273.hp1
HG02280.hp1
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02451.hp2
HG02486.hp2
HG02615.hp1
HG02630.hp1
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03195.hp1
HG03209.hp2
HG03225.hp1
HG03491.hp2
HG03492.hp1
HG03540.hp1
HG03669.hp1
HG03688.hp1
HG03704.hp2
HG03710.hp1
HG03834.hp1
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG04115.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
NA18612.hp1
NA18747.hp2
NA18939.hp2
NA18940.hp2
NA18942.hp2
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp2
NA18949.hp2
NA18950.hp2
NA18952.hp2
NA18953.hp1
NA18954.hp1
NA18956.hp1
NA18959.hp2
NA18960.hp1
NA18967.hp1
NA18967.hp2
NA18968.hp2
NA18970.hp2
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18975.hp1
NA18978.hp1
NA18979.hp2
NA18986.hp2
NA18992.hp1
NA18993.hp2
NA18995.hp1
NA18995.hp2
NA18997.hp1
NA18997.hp2
NA18998.hp2
NA18999.hp1
NA19001.hp1
NA19004.hp2
NA19006.hp2
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19054.hp2
NA19055.hp2
NA19056.hp2
NA19057.hp2
NA19058.hp2
NA19060.hp2
NA19062.hp2
NA19064.hp2
NA19066.hp1
NA19074.hp1
NA19077.hp2
NA19081.hp1
NA19082.hp2
NA19083.hp2
NA19084.hp2
NA19086.hp1
NA19087.hp2
NA19088.hp1
NA19090.hp1
NA19090.hp2
NA20752.hp2
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.304-711G>A
c.304-711G>A
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 4/13 chr8 18068009
chr8:18068031 C
C
 A
A
 2 a0002c0002t0003g0049
a0002c0002t0028g0249
a0002c0002t0003g0049
a0002c0002t0028g0249
 3 NA18941.hp2
NA18949.hp1
NA18953.hp2
NA18941.hp2
NA18949.hp1
NA18953.hp2
 intron_variant MODIFIER c.304-733G>T
c.304-733G>T
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 4/13 chr8 18068031
chr8:18068077 T
T
 C
C
 1 a0001c0001t0001g0214
a0001c0001t0001g0214
 1 HG02129.hp1
HG02129.hp1
 intron_variant MODIFIER c.304-779A>G
c.304-779A>G
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 4/13 chr8 18068077
chr8:18068227 C
C
 A
A
 2 a0002c0002t0018g0270
a0002c0002t0025g0054
a0002c0002t0018g0270
a0002c0002t0025g0054
 2 HG03540.hp2
NA21309.hp2
HG03540.hp2
NA21309.hp2
 intron_variant MODIFIER c.304-929G>T
c.304-929G>T
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 4/13 chr8 18068227
chr8:18068236 C
C
 T
T
 8 a0003c0003t0001g0051
a0003c0003t0001g0269
a0003c0003t0009g0014
others(5): Show 
a0003c0003t0001g0051
a0003c0003t0001g0269
a0003c0003t0009g0014
a0003c0003t0009g0062
a0003c0003t0009g0198
a0003c0003t0009g0199
a0003c0003t0009g0219
a0003c0003t0017g0272
 12 HG02109.hp2
HG02647.hp2
HG02683.hp2
others(9): Show 
HG02109.hp2
HG02647.hp2
HG02683.hp2
HG02723.hp1
HG02735.hp2
HG02818.hp1
HG02896.hp1
HG02897.hp2
HG03453.hp2
HG03710.hp2
HG04228.hp1
NA19240.hp1
 intron_variant MODIFIER c.304-938G>A
c.304-938G>A
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 4/13 chr8 18068236
chr8:18068282 G
G
 A
A
 2 a0002c0002t0003g0109
a0002c0002t0003g0252
a0002c0002t0003g0109
a0002c0002t0003g0252
 2 NA18955.hp2
NA18988.hp1
NA18955.hp2
NA18988.hp1
 intron_variant MODIFIER c.304-984C>T
c.304-984C>T
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 4/13 chr8 18068282
chr8:18068477 C
C
 A
A
 126 a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0009
others(123): Show 
a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0072
a0001c0001t0001g0102
a0001c0001t0001g0104
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0153
a0001c0001t0001g0158
a0001c0001t0001g0161
a0001c0001t0001g0167
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0187
a0001c0001t0001g0190
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0214
a0001c0001t0001g0226
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0001t0001g0256
a0001c0001t0001g0257
a0001c0001t0001g0259
a0001c0001t0001g0261
a0001c0001t0001g0278
a0001c0001t0001g0284
a0001c0001t0002g0042
a0001c0001t0002g0165
a0001c0001t0002g0166
a0001c0001t0002g0173
a0001c0001t0002g0188
a0001c0001t0002g0189
a0001c0001t0002g0191
a0001c0001t0002g0195
a0001c0001t0002g0200
a0001c0001t0002g0201
a0001c0001t0002g0216
a0001c0001t0002g0220
a0001c0001t0002g0235
a0001c0001t0002g0251
a0001c0001t0003g0159
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0029
a0001c0001t0004g0065
a0001c0001t0004g0066
a0001c0001t0004g0067
a0001c0001t0004g0068
a0001c0001t0004g0069
a0001c0001t0004g0070
a0001c0001t0004g0071
a0001c0001t0004g0079
a0001c0001t0004g0080
a0001c0001t0004g0081
a0001c0001t0004g0083
a0001c0001t0004g0084
a0001c0001t0004g0089
a0001c0001t0004g0090
a0001c0001t0006g0047
a0001c0001t0006g0154
a0001c0001t0006g0215
a0001c0001t0006g0217
a0001c0001t0006g0221
a0001c0001t0006g0222
a0001c0001t0006g0224
a0001c0001t0006g0225
a0001c0001t0006g0227
a0001c0001t0007g0058
a0001c0001t0007g0064
a0001c0001t0007g0073
a0001c0001t0007g0074
a0001c0001t0007g0075
a0001c0001t0007g0077
a0001c0001t0007g0078
a0001c0001t0007g0228
a0001c0001t0007g0229
a0001c0001t0007g0260
a0001c0001t0012g0050
a0001c0001t0012g0262
a0001c0001t0013g0281
a0001c0001t0014g0027
a0001c0001t0015g0162
a0001c0001t0015g0181
a0001c0001t0016g0043
a0001c0001t0020g0076
a0001c0001t0021g0057
a0001c0001t0022g0082
a0001c0001t0031g0117
a0001c0001t0032g0176
a0001c0001t0034g0186
a0001c0008t0006g0218
a0001c0009t0001g0094
a0005c0005t0001g0213
a0005c0005t0011g0046
a0005c0005t0011g0211
a0005c0005t0011g0212
 177 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(174): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00438.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp2
HG00738.hp2
HG00741.hp1
HG01070.hp1
HG01081.hp1
HG01081.hp2
HG01109.hp1
HG01167.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01243.hp1
HG01255.hp1
HG01256.hp2
HG01257.hp2
HG01261.hp1
HG01261.hp2
HG01358.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp2
HG01884.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp2
HG02040.hp2
HG02056.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02083.hp1
HG02129.hp1
HG02148.hp2
HG02165.hp1
HG02257.hp1
HG02273.hp1
HG02280.hp1
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02451.hp2
HG02486.hp2
HG02615.hp1
HG02630.hp1
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03491.hp2
HG03492.hp1
HG03540.hp1
HG03669.hp1
HG03688.hp1
HG03704.hp2
HG03710.hp1
HG03834.hp1
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG04115.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
NA18612.hp1
NA18747.hp2
NA18939.hp2
NA18940.hp2
NA18942.hp2
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp2
NA18949.hp2
NA18950.hp2
NA18952.hp2
NA18953.hp1
NA18954.hp1
NA18956.hp1
NA18959.hp2
NA18960.hp1
NA18967.hp1
NA18967.hp2
NA18968.hp2
NA18970.hp2
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18975.hp1
NA18978.hp1
NA18979.hp2
NA18986.hp2
NA18992.hp1
NA18993.hp2
NA18995.hp1
NA18995.hp2
NA18997.hp1
NA18997.hp2
NA18998.hp2
NA18999.hp1
NA19001.hp1
NA19004.hp2
NA19006.hp2
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19054.hp2
NA19055.hp2
NA19056.hp2
NA19057.hp2
NA19058.hp2
NA19060.hp2
NA19062.hp2
NA19064.hp2
NA19066.hp1
NA19074.hp1
NA19077.hp2
NA19081.hp1
NA19082.hp2
NA19083.hp2
NA19084.hp2
NA19086.hp1
NA19087.hp2
NA19088.hp1
NA19090.hp1
NA19090.hp2
NA20752.hp2
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.304-1179G>T
c.304-1179G>T
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 4/13 chr8 18068477
chr8:18068480 G
G
 A
A
 1 a0001c0001t0002g0201
a0001c0001t0002g0201
 1 HG00639.hp1
HG00639.hp1
 intron_variant MODIFIER c.304-1182C>T
c.304-1182C>T
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 4/13 chr8 18068480
chr8:18068572 C
C
 A
A
 90 a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0009
others(87): Show 
a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0072
a0001c0001t0001g0102
a0001c0001t0001g0104
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0153
a0001c0001t0001g0158
a0001c0001t0001g0161
a0001c0001t0001g0167
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0187
a0001c0001t0001g0190
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0214
a0001c0001t0001g0226
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0001t0001g0256
a0001c0001t0001g0257
a0001c0001t0001g0259
a0001c0001t0001g0261
a0001c0001t0001g0278
a0001c0001t0001g0284
a0001c0001t0002g0042
a0001c0001t0002g0165
a0001c0001t0002g0166
a0001c0001t0002g0173
a0001c0001t0002g0188
a0001c0001t0002g0189
a0001c0001t0002g0191
a0001c0001t0002g0195
a0001c0001t0002g0200
a0001c0001t0002g0201
a0001c0001t0002g0216
a0001c0001t0002g0220
a0001c0001t0002g0235
a0001c0001t0003g0159
a0001c0001t0006g0047
a0001c0001t0006g0154
a0001c0001t0006g0215
a0001c0001t0006g0217
a0001c0001t0006g0221
a0001c0001t0006g0222
a0001c0001t0006g0224
a0001c0001t0006g0225
a0001c0001t0006g0227
a0001c0001t0012g0050
a0001c0001t0012g0262
a0001c0001t0014g0027
a0001c0001t0015g0162
a0001c0001t0015g0181
a0001c0001t0016g0043
a0001c0001t0031g0117
a0001c0001t0032g0176
a0001c0001t0034g0186
a0001c0008t0006g0218
a0001c0009t0001g0094
 133 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(130): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp2
HG00423.hp1
HG00597.hp2
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp2
HG00738.hp2
HG00741.hp1
HG01070.hp1
HG01081.hp1
HG01081.hp2
HG01109.hp1
HG01168.hp2
HG01169.hp2
HG01243.hp1
HG01255.hp1
HG01256.hp2
HG01261.hp2
HG01358.hp2
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01952.hp2
HG01975.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp2
HG02056.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02129.hp1
HG02148.hp2
HG02165.hp1
HG02280.hp1
HG02293.hp1
HG02451.hp2
HG02486.hp2
HG02683.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG03017.hp2
HG03209.hp1
HG03209.hp2
HG03491.hp2
HG03492.hp1
HG03669.hp1
HG03688.hp1
HG03704.hp2
HG03710.hp1
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG04184.hp1
HG04184.hp2
NA18747.hp2
NA18939.hp2
NA18940.hp2
NA18942.hp2
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18947.hp2
NA18950.hp2
NA18952.hp2
NA18953.hp1
NA18954.hp1
NA18956.hp1
NA18959.hp2
NA18960.hp1
NA18967.hp1
NA18968.hp2
NA18970.hp2
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18975.hp1
NA18978.hp1
NA18979.hp2
NA18986.hp2
NA18992.hp1
NA18993.hp2
NA18995.hp2
NA18997.hp1
NA18997.hp2
NA18998.hp2
NA19001.hp1
NA19006.hp2
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19055.hp2
NA19056.hp2
NA19057.hp2
NA19058.hp2
NA19060.hp2
NA19062.hp2
NA19064.hp2
NA19066.hp1
NA19074.hp1
NA19077.hp2
NA19081.hp1
NA19082.hp2
NA19083.hp2
NA19084.hp2
NA19087.hp2
NA19088.hp1
NA19090.hp1
NA20752.hp2
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.303+1220G>T
c.303+1220G>T
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 4/13 chr8 18068572
chr8:18068651 G
G
 A
A
 126 a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0009
others(123): Show 
a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0072
a0001c0001t0001g0102
a0001c0001t0001g0104
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0153
a0001c0001t0001g0158
a0001c0001t0001g0161
a0001c0001t0001g0167
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0187
a0001c0001t0001g0190
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0214
a0001c0001t0001g0226
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0001t0001g0256
a0001c0001t0001g0257
a0001c0001t0001g0259
a0001c0001t0001g0261
a0001c0001t0001g0278
a0001c0001t0001g0284
a0001c0001t0002g0042
a0001c0001t0002g0165
a0001c0001t0002g0166
a0001c0001t0002g0173
a0001c0001t0002g0188
a0001c0001t0002g0189
a0001c0001t0002g0191
a0001c0001t0002g0195
a0001c0001t0002g0200
a0001c0001t0002g0201
a0001c0001t0002g0216
a0001c0001t0002g0220
a0001c0001t0002g0235
a0001c0001t0002g0251
a0001c0001t0003g0159
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0029
a0001c0001t0004g0065
a0001c0001t0004g0066
a0001c0001t0004g0067
a0001c0001t0004g0068
a0001c0001t0004g0069
a0001c0001t0004g0070
a0001c0001t0004g0071
a0001c0001t0004g0079
a0001c0001t0004g0080
a0001c0001t0004g0081
a0001c0001t0004g0083
a0001c0001t0004g0084
a0001c0001t0004g0089
a0001c0001t0004g0090
a0001c0001t0006g0047
a0001c0001t0006g0154
a0001c0001t0006g0215
a0001c0001t0006g0217
a0001c0001t0006g0221
a0001c0001t0006g0222
a0001c0001t0006g0224
a0001c0001t0006g0225
a0001c0001t0006g0227
a0001c0001t0007g0058
a0001c0001t0007g0064
a0001c0001t0007g0073
a0001c0001t0007g0074
a0001c0001t0007g0075
a0001c0001t0007g0077
a0001c0001t0007g0078
a0001c0001t0007g0228
a0001c0001t0007g0229
a0001c0001t0007g0260
a0001c0001t0012g0050
a0001c0001t0012g0262
a0001c0001t0013g0281
a0001c0001t0014g0027
a0001c0001t0015g0162
a0001c0001t0015g0181
a0001c0001t0016g0043
a0001c0001t0020g0076
a0001c0001t0021g0057
a0001c0001t0022g0082
a0001c0001t0031g0117
a0001c0001t0032g0176
a0001c0001t0034g0186
a0001c0008t0006g0218
a0001c0009t0001g0094
a0005c0005t0001g0213
a0005c0005t0011g0046
a0005c0005t0011g0211
a0005c0005t0011g0212
 177 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(174): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00438.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp2
HG00738.hp2
HG00741.hp1
HG01070.hp1
HG01081.hp1
HG01081.hp2
HG01109.hp1
HG01167.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01243.hp1
HG01255.hp1
HG01256.hp2
HG01257.hp2
HG01261.hp1
HG01261.hp2
HG01358.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp2
HG01884.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp2
HG02040.hp2
HG02056.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02083.hp1
HG02129.hp1
HG02148.hp2
HG02165.hp1
HG02257.hp1
HG02273.hp1
HG02280.hp1
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02451.hp2
HG02486.hp2
HG02615.hp1
HG02630.hp1
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03491.hp2
HG03492.hp1
HG03540.hp1
HG03669.hp1
HG03688.hp1
HG03704.hp2
HG03710.hp1
HG03834.hp1
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG04115.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
NA18612.hp1
NA18747.hp2
NA18939.hp2
NA18940.hp2
NA18942.hp2
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp2
NA18949.hp2
NA18950.hp2
NA18952.hp2
NA18953.hp1
NA18954.hp1
NA18956.hp1
NA18959.hp2
NA18960.hp1
NA18967.hp1
NA18967.hp2
NA18968.hp2
NA18970.hp2
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18975.hp1
NA18978.hp1
NA18979.hp2
NA18986.hp2
NA18992.hp1
NA18993.hp2
NA18995.hp1
NA18995.hp2
NA18997.hp1
NA18997.hp2
NA18998.hp2
NA18999.hp1
NA19001.hp1
NA19004.hp2
NA19006.hp2
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19054.hp2
NA19055.hp2
NA19056.hp2
NA19057.hp2
NA19058.hp2
NA19060.hp2
NA19062.hp2
NA19064.hp2
NA19066.hp1
NA19074.hp1
NA19077.hp2
NA19081.hp1
NA19082.hp2
NA19083.hp2
NA19084.hp2
NA19086.hp1
NA19087.hp2
NA19088.hp1
NA19090.hp1
NA19090.hp2
NA20752.hp2
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.303+1141C>T
c.303+1141C>T
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 4/13 chr8 18068651
chr8:18068794 C
C
 T
T
 3 a0001c0001t0001g0167
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0167
a0001c0001t0001g0178
a0001c0001t0001g0179
 3 HG01515.hp2
HG02280.hp1
HG02486.hp2
HG01515.hp2
HG02280.hp1
HG02486.hp2
 intron_variant MODIFIER c.303+998G>A
c.303+998G>A
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 4/13 chr8 18068794
chr8:18068812 G
G
 T
T
 1 a0001c0001t0002g0251
a0001c0001t0002g0251
 1 HG02027.hp2
HG02027.hp2
 intron_variant MODIFIER c.303+980C>A
c.303+980C>A
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 4/13 chr8 18068812
chr8:18068848 G
G
 A
A
 91 a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0009
others(88): Show 
a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0072
a0001c0001t0001g0102
a0001c0001t0001g0104
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0153
a0001c0001t0001g0158
a0001c0001t0001g0161
a0001c0001t0001g0167
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0187
a0001c0001t0001g0190
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0214
a0001c0001t0001g0226
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0001t0001g0256
a0001c0001t0001g0257
a0001c0001t0001g0259
a0001c0001t0001g0261
a0001c0001t0001g0278
a0001c0001t0001g0284
a0001c0001t0002g0042
a0001c0001t0002g0165
a0001c0001t0002g0166
a0001c0001t0002g0173
a0001c0001t0002g0188
a0001c0001t0002g0189
a0001c0001t0002g0191
a0001c0001t0002g0195
a0001c0001t0002g0200
a0001c0001t0002g0201
a0001c0001t0002g0216
a0001c0001t0002g0220
a0001c0001t0002g0235
a0001c0001t0003g0159
a0001c0001t0004g0080
a0001c0001t0006g0047
a0001c0001t0006g0154
a0001c0001t0006g0215
a0001c0001t0006g0217
a0001c0001t0006g0221
a0001c0001t0006g0222
a0001c0001t0006g0224
a0001c0001t0006g0225
a0001c0001t0006g0227
a0001c0001t0012g0050
a0001c0001t0012g0262
a0001c0001t0014g0027
a0001c0001t0015g0162
a0001c0001t0015g0181
a0001c0001t0016g0043
a0001c0001t0031g0117
a0001c0001t0032g0176
a0001c0001t0034g0186
a0001c0008t0006g0218
a0001c0009t0001g0094
 134 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(131): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp2
HG00423.hp1
HG00597.hp2
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp2
HG00738.hp2
HG00741.hp1
HG01070.hp1
HG01081.hp1
HG01081.hp2
HG01109.hp1
HG01168.hp2
HG01169.hp2
HG01243.hp1
HG01255.hp1
HG01256.hp2
HG01261.hp2
HG01358.hp2
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01952.hp2
HG01975.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp2
HG02056.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02129.hp1
HG02148.hp2
HG02165.hp1
HG02280.hp1
HG02293.hp1
HG02451.hp2
HG02486.hp2
HG02683.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG03017.hp2
HG03209.hp1
HG03209.hp2
HG03491.hp2
HG03492.hp1
HG03669.hp1
HG03688.hp1
HG03704.hp2
HG03710.hp1
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG04184.hp1
HG04184.hp2
NA18747.hp2
NA18939.hp2
NA18940.hp2
NA18942.hp2
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18947.hp2
NA18950.hp2
NA18952.hp2
NA18953.hp1
NA18954.hp1
NA18956.hp1
NA18959.hp2
NA18960.hp1
NA18967.hp1
NA18968.hp2
NA18970.hp2
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18975.hp1
NA18978.hp1
NA18979.hp2
NA18986.hp2
NA18992.hp1
NA18993.hp2
NA18995.hp2
NA18997.hp1
NA18997.hp2
NA18998.hp2
NA19001.hp1
NA19006.hp2
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19054.hp2
NA19055.hp2
NA19056.hp2
NA19057.hp2
NA19058.hp2
NA19060.hp2
NA19062.hp2
NA19064.hp2
NA19066.hp1
NA19074.hp1
NA19077.hp2
NA19081.hp1
NA19082.hp2
NA19083.hp2
NA19084.hp2
NA19087.hp2
NA19088.hp1
NA19090.hp1
NA20752.hp2
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.303+944C>T
c.303+944C>T
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 4/13 chr8 18068848
chr8:18068864 A
A
 G
G
 2 a0001c0001t0002g0220
a0001c0001t0002g0235
a0001c0001t0002g0220
a0001c0001t0002g0235
 2 HG02896.hp2
HG03209.hp1
HG02896.hp2
HG03209.hp1
 intron_variant MODIFIER c.303+928T>C
c.303+928T>C
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 4/13 chr8 18068864
chr8:18068923 G
G
 A
A
 31 a0001c0001t0002g0251
a0001c0001t0004g0010
a0001c0001t0004g0011
others(28): Show 
a0001c0001t0002g0251
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0029
a0001c0001t0004g0065
a0001c0001t0004g0066
a0001c0001t0004g0067
a0001c0001t0004g0068
a0001c0001t0004g0069
a0001c0001t0004g0070
a0001c0001t0004g0071
a0001c0001t0004g0079
a0001c0001t0004g0080
a0001c0001t0004g0081
a0001c0001t0004g0083
a0001c0001t0004g0084
a0001c0001t0004g0089
a0001c0001t0004g0090
a0001c0001t0007g0058
a0001c0001t0007g0064
a0001c0001t0007g0073
a0001c0001t0007g0074
a0001c0001t0007g0075
a0001c0001t0007g0077
a0001c0001t0007g0078
a0001c0001t0007g0228
a0001c0001t0007g0229
a0001c0001t0007g0260
a0001c0001t0020g0076
a0001c0001t0021g0057
a0001c0001t0022g0082
 38 HG00323.hp2
HG00438.hp2
HG01167.hp1
others(35): Show 
HG00323.hp2
HG00438.hp2
HG01167.hp1
HG01169.hp1
HG01257.hp2
HG01261.hp1
HG01361.hp1
HG01433.hp1
HG01496.hp1
HG01884.hp2
HG01952.hp1
HG02027.hp2
HG02083.hp1
HG02257.hp1
HG02273.hp1
HG02293.hp2
HG02300.hp1
HG02615.hp1
HG02630.hp1
HG03041.hp2
HG03195.hp1
HG03225.hp1
HG03540.hp1
HG04115.hp1
HG04204.hp1
HG06807.hp1
NA18612.hp1
NA18945.hp2
NA18949.hp2
NA18967.hp2
NA18972.hp1
NA18995.hp1
NA18999.hp1
NA19004.hp2
NA19043.hp1
NA19054.hp2
NA19086.hp1
NA19090.hp2
 intron_variant MODIFIER c.303+869C>T
c.303+869C>T
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 4/13 chr8 18068923
chr8:18069128 G
G
 A
A
 1 a0002c0002t0002g0138
a0002c0002t0002g0138
 1 HG02922.hp2
HG02922.hp2
 intron_variant MODIFIER c.303+664C>T
c.303+664C>T
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 4/13 chr8 18069128
chr8:18069140 CA
CA
 C
C
 7 a0001c0001t0001g0190
a0001c0001t0002g0191
a0001c0007t0023g0279
others(4): Show 
a0001c0001t0001g0190
a0001c0001t0002g0191
a0001c0007t0023g0279
a0002c0002t0001g0136
a0002c0002t0003g0116
a0002c0002t0003g0237
a0003c0003t0001g0125
 7 HG00738.hp2
HG02257.hp2
HG03491.hp1
others(4): Show 
HG00738.hp2
HG02257.hp2
HG03491.hp1
NA18966.hp1
NA19006.hp2
NA19074.hp2
NA19076.hp2
 intron_variant MODIFIER c.303+651delT
c.303+651delT
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 4/13 chr8 18069140
chr8:18069140 CAA
CAA
 C
C
 87 a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0009
others(84): Show 
a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0072
a0001c0001t0001g0102
a0001c0001t0001g0104
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0153
a0001c0001t0001g0158
a0001c0001t0001g0161
a0001c0001t0001g0167
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0174
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0187
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0214
a0001c0001t0001g0226
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0001t0001g0257
a0001c0001t0001g0259
a0001c0001t0001g0261
a0001c0001t0001g0278
a0001c0001t0001g0284
a0001c0001t0002g0042
a0001c0001t0002g0165
a0001c0001t0002g0166
a0001c0001t0002g0173
a0001c0001t0002g0188
a0001c0001t0002g0189
a0001c0001t0002g0195
a0001c0001t0002g0200
a0001c0001t0002g0201
a0001c0001t0002g0216
a0001c0001t0002g0220
a0001c0001t0002g0235
a0001c0001t0003g0159
a0001c0001t0006g0047
a0001c0001t0006g0154
a0001c0001t0006g0215
a0001c0001t0006g0217
a0001c0001t0006g0222
a0001c0001t0006g0224
a0001c0001t0006g0225
a0001c0001t0006g0227
a0001c0001t0012g0050
a0001c0001t0012g0262
a0001c0001t0013g0281
a0001c0001t0014g0027
a0001c0001t0015g0162
a0001c0001t0015g0181
a0001c0001t0016g0043
a0001c0001t0031g0117
a0001c0001t0034g0186
a0001c0008t0006g0218
a0001c0009t0001g0094
a0005c0005t0001g0213
a0005c0005t0011g0046
a0005c0005t0011g0211
a0005c0005t0011g0212
 131 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(128): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp2
HG00423.hp1
HG00597.hp2
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp2
HG00741.hp1
HG01070.hp1
HG01081.hp1
HG01081.hp2
HG01109.hp1
HG01168.hp2
HG01169.hp2
HG01243.hp1
HG01255.hp1
HG01261.hp2
HG01358.hp2
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01952.hp2
HG01975.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp2
HG02056.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02129.hp1
HG02148.hp2
HG02165.hp1
HG02280.hp1
HG02293.hp1
HG02451.hp2
HG02486.hp2
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03209.hp1
HG03209.hp2
HG03492.hp1
HG03669.hp1
HG03688.hp1
HG03704.hp2
HG03710.hp1
HG03834.hp1
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG04184.hp1
HG04184.hp2
HG04228.hp2
NA18747.hp2
NA18939.hp2
NA18940.hp2
NA18942.hp2
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18947.hp2
NA18952.hp2
NA18953.hp1
NA18954.hp1
NA18956.hp1
NA18959.hp2
NA18960.hp1
NA18967.hp1
NA18970.hp2
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18975.hp1
NA18978.hp1
NA18979.hp2
NA18986.hp2
NA18992.hp1
NA18993.hp2
NA18995.hp2
NA18997.hp1
NA18997.hp2
NA18998.hp2
NA19001.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19055.hp2
NA19057.hp2
NA19058.hp2
NA19062.hp2
NA19064.hp2
NA19066.hp1
NA19074.hp1
NA19077.hp2
NA19081.hp1
NA19082.hp2
NA19083.hp2
NA19084.hp2
NA19087.hp2
NA19088.hp1
NA19090.hp1
NA20752.hp2
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.303+650_303+651del
others(2): Show 
c.303+650_303+651delTT
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 4/13 chr8 18069140
chr8:18069140 CAAA
CAAA
 C
C
 10 a0001c0001t0001g0175
a0001c0001t0001g0177
a0001c0001t0001g0192
others(7): Show 
a0001c0001t0001g0175
a0001c0001t0001g0177
a0001c0001t0001g0192
a0001c0001t0001g0256
a0001c0001t0004g0029
a0001c0001t0004g0068
a0001c0001t0004g0081
a0001c0001t0006g0221
a0001c0001t0022g0082
a0001c0001t0032g0176
 11 HG01256.hp2
HG03225.hp1
HG03491.hp2
others(8): Show 
HG01256.hp2
HG03225.hp1
HG03491.hp2
HG03540.hp1
HG06807.hp1
NA18950.hp2
NA18967.hp2
NA18968.hp2
NA19043.hp1
NA19056.hp2
NA19060.hp2
 intron_variant MODIFIER c.303+649_303+651del
others(3): Show 
c.303+649_303+651delTTT
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 4/13 chr8 18069140
chr8:18069140 CAAAA
CAAAA
 C
C
 25 a0001c0001t0002g0251
a0001c0001t0004g0010
a0001c0001t0004g0011
others(22): Show 
a0001c0001t0002g0251
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0065
a0001c0001t0004g0066
a0001c0001t0004g0067
a0001c0001t0004g0069
a0001c0001t0004g0070
a0001c0001t0004g0079
a0001c0001t0004g0080
a0001c0001t0004g0083
a0001c0001t0004g0084
a0001c0001t0004g0089
a0001c0001t0004g0090
a0001c0001t0007g0058
a0001c0001t0007g0064
a0001c0001t0007g0073
a0001c0001t0007g0074
a0001c0001t0007g0077
a0001c0001t0007g0078
a0001c0001t0007g0228
a0001c0001t0007g0229
a0001c0001t0007g0260
a0001c0001t0020g0076
a0001c0001t0021g0057
 31 HG00323.hp2
HG00438.hp2
HG01169.hp1
others(28): Show 
HG00323.hp2
HG00438.hp2
HG01169.hp1
HG01257.hp2
HG01261.hp1
HG01361.hp1
HG01433.hp1
HG01496.hp1
HG01884.hp2
HG01952.hp1
HG02027.hp2
HG02083.hp1
HG02257.hp1
HG02273.hp1
HG02293.hp2
HG02300.hp1
HG02615.hp1
HG02630.hp1
HG03041.hp2
HG03195.hp1
HG04115.hp1
HG04204.hp1
NA18612.hp1
NA18945.hp2
NA18949.hp2
NA18972.hp1
NA18995.hp1
NA18999.hp1
NA19004.hp2
NA19054.hp2
NA19090.hp2
 intron_variant MODIFIER c.303+648_303+651del
others(4): Show 
c.303+648_303+651delTTTT
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 4/13 chr8 18069140
chr8:18069188 G
G
 A
A
 1 a0001c0001t0001g0207
a0001c0001t0001g0207
 1 HG01496.hp2
HG01496.hp2
 intron_variant MODIFIER c.303+604C>T
c.303+604C>T
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 4/13 chr8 18069188
chr8:18069281 G
G
 A
A
 126 a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0009
others(123): Show 
a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0072
a0001c0001t0001g0102
a0001c0001t0001g0104
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0153
a0001c0001t0001g0158
a0001c0001t0001g0161
a0001c0001t0001g0167
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0175
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0187
a0001c0001t0001g0190
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0214
a0001c0001t0001g0226
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0001t0001g0256
a0001c0001t0001g0257
a0001c0001t0001g0259
a0001c0001t0001g0261
a0001c0001t0001g0278
a0001c0001t0001g0284
a0001c0001t0002g0042
a0001c0001t0002g0165
a0001c0001t0002g0166
a0001c0001t0002g0173
a0001c0001t0002g0188
a0001c0001t0002g0189
a0001c0001t0002g0191
a0001c0001t0002g0195
a0001c0001t0002g0200
a0001c0001t0002g0201
a0001c0001t0002g0216
a0001c0001t0002g0220
a0001c0001t0002g0235
a0001c0001t0002g0251
a0001c0001t0003g0159
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0029
a0001c0001t0004g0065
a0001c0001t0004g0066
a0001c0001t0004g0067
a0001c0001t0004g0068
a0001c0001t0004g0069
a0001c0001t0004g0070
a0001c0001t0004g0071
a0001c0001t0004g0079
a0001c0001t0004g0080
a0001c0001t0004g0081
a0001c0001t0004g0083
a0001c0001t0004g0084
a0001c0001t0004g0089
a0001c0001t0004g0090
a0001c0001t0006g0047
a0001c0001t0006g0154
a0001c0001t0006g0215
a0001c0001t0006g0217
a0001c0001t0006g0221
a0001c0001t0006g0222
a0001c0001t0006g0224
a0001c0001t0006g0225
a0001c0001t0006g0227
a0001c0001t0007g0058
a0001c0001t0007g0064
a0001c0001t0007g0073
a0001c0001t0007g0074
a0001c0001t0007g0075
a0001c0001t0007g0077
a0001c0001t0007g0078
a0001c0001t0007g0228
a0001c0001t0007g0229
a0001c0001t0007g0260
a0001c0001t0012g0050
a0001c0001t0012g0262
a0001c0001t0013g0281
a0001c0001t0014g0027
a0001c0001t0015g0162
a0001c0001t0015g0181
a0001c0001t0016g0043
a0001c0001t0020g0076
a0001c0001t0021g0057
a0001c0001t0022g0082
a0001c0001t0031g0117
a0001c0001t0032g0176
a0001c0001t0034g0186
a0001c0007t0023g0279
a0001c0008t0006g0218
a0001c0009t0001g0094
a0005c0005t0001g0213
a0005c0005t0011g0046
a0005c0005t0011g0211
a0005c0005t0011g0212
 177 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(174): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00438.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp2
HG00738.hp2
HG00741.hp1
HG01070.hp1
HG01081.hp1
HG01081.hp2
HG01109.hp1
HG01167.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01243.hp1
HG01255.hp1
HG01256.hp2
HG01257.hp2
HG01261.hp1
HG01261.hp2
HG01358.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp2
HG01884.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp2
HG02040.hp2
HG02056.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02083.hp1
HG02129.hp1
HG02148.hp2
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02273.hp1
HG02280.hp1
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02451.hp2
HG02486.hp2
HG02615.hp1
HG02630.hp1
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03491.hp2
HG03492.hp1
HG03540.hp1
HG03669.hp1
HG03688.hp1
HG03704.hp2
HG03710.hp1
HG03834.hp1
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG04115.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
NA18612.hp1
NA18747.hp2
NA18939.hp2
NA18940.hp2
NA18942.hp2
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp2
NA18949.hp2
NA18950.hp2
NA18952.hp2
NA18953.hp1
NA18954.hp1
NA18956.hp1
NA18959.hp2
NA18960.hp1
NA18967.hp1
NA18967.hp2
NA18968.hp2
NA18970.hp2
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18975.hp1
NA18978.hp1
NA18979.hp2
NA18986.hp2
NA18992.hp1
NA18993.hp2
NA18995.hp1
NA18995.hp2
NA18997.hp1
NA18997.hp2
NA18998.hp2
NA18999.hp1
NA19001.hp1
NA19004.hp2
NA19006.hp2
NA19011.hp2
NA19030.hp1
NA19043.hp1
NA19054.hp2
NA19055.hp2
NA19056.hp2
NA19057.hp2
NA19058.hp2
NA19060.hp2
NA19062.hp2
NA19064.hp2
NA19066.hp1
NA19074.hp1
NA19077.hp2
NA19081.hp1
NA19082.hp2
NA19083.hp2
NA19084.hp2
NA19086.hp1
NA19087.hp2
NA19088.hp1
NA19090.hp1
NA19090.hp2
NA20752.hp2
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.303+511C>T
c.303+511C>T
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 4/13 chr8 18069281
chr8:18069486 C
C
 A
A
 1 a0002c0002t0003g0267
a0002c0002t0003g0267
 1 HG03139.hp2
HG03139.hp2
 intron_variant MODIFIER c.303+306G>T
c.303+306G>T
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 4/13 chr8 18069486
chr8:18069497 A
A
 G
G
 127 a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0009
others(124): Show 
a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0072
a0001c0001t0001g0102
a0001c0001t0001g0104
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0153
a0001c0001t0001g0158
a0001c0001t0001g0161
a0001c0001t0001g0167
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0187
a0001c0001t0001g0190
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0214
a0001c0001t0001g0226
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0001t0001g0256
a0001c0001t0001g0257
a0001c0001t0001g0259
a0001c0001t0001g0261
a0001c0001t0001g0278
a0001c0001t0001g0284
a0001c0001t0002g0042
a0001c0001t0002g0165
a0001c0001t0002g0166
a0001c0001t0002g0173
a0001c0001t0002g0188
a0001c0001t0002g0189
a0001c0001t0002g0191
a0001c0001t0002g0195
a0001c0001t0002g0200
a0001c0001t0002g0201
a0001c0001t0002g0216
a0001c0001t0002g0220
a0001c0001t0002g0235
a0001c0001t0002g0251
a0001c0001t0003g0159
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0029
a0001c0001t0004g0065
a0001c0001t0004g0066
a0001c0001t0004g0067
a0001c0001t0004g0068
a0001c0001t0004g0069
a0001c0001t0004g0070
a0001c0001t0004g0071
a0001c0001t0004g0079
a0001c0001t0004g0080
a0001c0001t0004g0081
a0001c0001t0004g0083
a0001c0001t0004g0084
a0001c0001t0004g0089
a0001c0001t0004g0090
a0001c0001t0006g0047
a0001c0001t0006g0154
a0001c0001t0006g0215
a0001c0001t0006g0217
a0001c0001t0006g0221
a0001c0001t0006g0222
a0001c0001t0006g0224
a0001c0001t0006g0225
a0001c0001t0006g0227
a0001c0001t0007g0058
a0001c0001t0007g0064
a0001c0001t0007g0073
a0001c0001t0007g0074
a0001c0001t0007g0075
a0001c0001t0007g0077
a0001c0001t0007g0078
a0001c0001t0007g0228
a0001c0001t0007g0229
a0001c0001t0007g0260
a0001c0001t0012g0050
a0001c0001t0012g0262
a0001c0001t0013g0281
a0001c0001t0014g0027
a0001c0001t0015g0162
a0001c0001t0015g0181
a0001c0001t0016g0043
a0001c0001t0020g0076
a0001c0001t0021g0057
a0001c0001t0022g0082
a0001c0001t0031g0117
a0001c0001t0032g0176
a0001c0001t0034g0186
a0001c0007t0023g0279
a0001c0008t0006g0218
a0001c0009t0001g0094
a0005c0005t0001g0213
a0005c0005t0011g0046
a0005c0005t0011g0211
a0005c0005t0011g0212
 178 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(175): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00438.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp2
HG00738.hp2
HG00741.hp1
HG01070.hp1
HG01081.hp1
HG01081.hp2
HG01109.hp1
HG01167.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01243.hp1
HG01255.hp1
HG01256.hp2
HG01257.hp2
HG01261.hp1
HG01261.hp2
HG01358.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp2
HG01884.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp2
HG02040.hp2
HG02056.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02083.hp1
HG02129.hp1
HG02148.hp2
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02273.hp1
HG02280.hp1
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02451.hp2
HG02486.hp2
HG02615.hp1
HG02630.hp1
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03491.hp2
HG03492.hp1
HG03540.hp1
HG03669.hp1
HG03688.hp1
HG03704.hp2
HG03710.hp1
HG03834.hp1
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG04115.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
NA18612.hp1
NA18747.hp2
NA18939.hp2
NA18940.hp2
NA18942.hp2
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp2
NA18949.hp2
NA18950.hp2
NA18952.hp2
NA18953.hp1
NA18954.hp1
NA18956.hp1
NA18959.hp2
NA18960.hp1
NA18967.hp1
NA18967.hp2
NA18968.hp2
NA18970.hp2
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18975.hp1
NA18978.hp1
NA18979.hp2
NA18986.hp2
NA18992.hp1
NA18993.hp2
NA18995.hp1
NA18995.hp2
NA18997.hp1
NA18997.hp2
NA18998.hp2
NA18999.hp1
NA19001.hp1
NA19004.hp2
NA19006.hp2
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19054.hp2
NA19055.hp2
NA19056.hp2
NA19057.hp2
NA19058.hp2
NA19060.hp2
NA19062.hp2
NA19064.hp2
NA19066.hp1
NA19074.hp1
NA19077.hp2
NA19081.hp1
NA19082.hp2
NA19083.hp2
NA19084.hp2
NA19086.hp1
NA19087.hp2
NA19088.hp1
NA19090.hp1
NA19090.hp2
NA20752.hp2
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.303+295T>C
c.303+295T>C
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 4/13 chr8 18069497
chr8:18069552 G
G
 T
T
 126 a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0009
others(123): Show 
a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0072
a0001c0001t0001g0102
a0001c0001t0001g0104
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0153
a0001c0001t0001g0158
a0001c0001t0001g0161
a0001c0001t0001g0167
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0187
a0001c0001t0001g0190
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0214
a0001c0001t0001g0226
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0001t0001g0256
a0001c0001t0001g0257
a0001c0001t0001g0259
a0001c0001t0001g0261
a0001c0001t0001g0278
a0001c0001t0001g0284
a0001c0001t0002g0042
a0001c0001t0002g0165
a0001c0001t0002g0166
a0001c0001t0002g0173
a0001c0001t0002g0188
a0001c0001t0002g0189
a0001c0001t0002g0191
a0001c0001t0002g0200
a0001c0001t0002g0201
a0001c0001t0002g0216
a0001c0001t0002g0220
a0001c0001t0002g0235
a0001c0001t0002g0251
a0001c0001t0003g0159
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0029
a0001c0001t0004g0065
a0001c0001t0004g0066
a0001c0001t0004g0067
a0001c0001t0004g0068
a0001c0001t0004g0069
a0001c0001t0004g0070
a0001c0001t0004g0071
a0001c0001t0004g0079
a0001c0001t0004g0080
a0001c0001t0004g0081
a0001c0001t0004g0083
a0001c0001t0004g0084
a0001c0001t0004g0089
a0001c0001t0004g0090
a0001c0001t0006g0047
a0001c0001t0006g0154
a0001c0001t0006g0215
a0001c0001t0006g0217
a0001c0001t0006g0221
a0001c0001t0006g0222
a0001c0001t0006g0224
a0001c0001t0006g0225
a0001c0001t0006g0227
a0001c0001t0007g0058
a0001c0001t0007g0064
a0001c0001t0007g0073
a0001c0001t0007g0074
a0001c0001t0007g0075
a0001c0001t0007g0077
a0001c0001t0007g0078
a0001c0001t0007g0228
a0001c0001t0007g0229
a0001c0001t0007g0260
a0001c0001t0012g0050
a0001c0001t0012g0262
a0001c0001t0013g0281
a0001c0001t0014g0027
a0001c0001t0015g0162
a0001c0001t0015g0181
a0001c0001t0016g0043
a0001c0001t0020g0076
a0001c0001t0021g0057
a0001c0001t0022g0082
a0001c0001t0031g0117
a0001c0001t0032g0176
a0001c0001t0034g0186
a0001c0007t0023g0279
a0001c0008t0006g0218
a0001c0009t0001g0094
a0005c0005t0001g0213
a0005c0005t0011g0046
a0005c0005t0011g0211
a0005c0005t0011g0212
 177 HG00099.hp2
HG00140.hp1
HG00280.hp2
others(174): Show 
HG00099.hp2
HG00140.hp1
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00438.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp2
HG00738.hp2
HG00741.hp1
HG01070.hp1
HG01081.hp1
HG01081.hp2
HG01109.hp1
HG01167.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01243.hp1
HG01255.hp1
HG01256.hp2
HG01257.hp2
HG01261.hp1
HG01261.hp2
HG01358.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp2
HG01884.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp2
HG02040.hp2
HG02056.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02083.hp1
HG02129.hp1
HG02148.hp2
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02273.hp1
HG02280.hp1
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02451.hp2
HG02486.hp2
HG02615.hp1
HG02630.hp1
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03491.hp2
HG03492.hp1
HG03540.hp1
HG03669.hp1
HG03688.hp1
HG03704.hp2
HG03710.hp1
HG03834.hp1
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG04115.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
NA18612.hp1
NA18747.hp2
NA18939.hp2
NA18940.hp2
NA18942.hp2
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp2
NA18949.hp2
NA18950.hp2
NA18952.hp2
NA18953.hp1
NA18954.hp1
NA18956.hp1
NA18959.hp2
NA18960.hp1
NA18967.hp1
NA18967.hp2
NA18968.hp2
NA18970.hp2
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18975.hp1
NA18978.hp1
NA18979.hp2
NA18986.hp2
NA18992.hp1
NA18993.hp2
NA18995.hp1
NA18995.hp2
NA18997.hp1
NA18997.hp2
NA18998.hp2
NA18999.hp1
NA19001.hp1
NA19004.hp2
NA19006.hp2
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19054.hp2
NA19055.hp2
NA19056.hp2
NA19057.hp2
NA19058.hp2
NA19060.hp2
NA19062.hp2
NA19064.hp2
NA19066.hp1
NA19074.hp1
NA19077.hp2
NA19081.hp1
NA19082.hp2
NA19083.hp2
NA19084.hp2
NA19086.hp1
NA19087.hp2
NA19088.hp1
NA19090.hp1
NA19090.hp2
NA20752.hp2
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.303+240C>A
c.303+240C>A
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 4/13 chr8 18069552
chr8:18069573 T
T
 C
C
 127 a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0009
others(124): Show 
a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0072
a0001c0001t0001g0102
a0001c0001t0001g0104
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0153
a0001c0001t0001g0158
a0001c0001t0001g0161
a0001c0001t0001g0167
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0187
a0001c0001t0001g0190
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0214
a0001c0001t0001g0226
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0001t0001g0256
a0001c0001t0001g0257
a0001c0001t0001g0259
a0001c0001t0001g0261
a0001c0001t0001g0278
a0001c0001t0001g0284
a0001c0001t0002g0042
a0001c0001t0002g0165
a0001c0001t0002g0166
a0001c0001t0002g0173
a0001c0001t0002g0188
a0001c0001t0002g0189
a0001c0001t0002g0191
a0001c0001t0002g0195
a0001c0001t0002g0200
a0001c0001t0002g0201
a0001c0001t0002g0216
a0001c0001t0002g0220
a0001c0001t0002g0235
a0001c0001t0002g0251
a0001c0001t0003g0159
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0029
a0001c0001t0004g0065
a0001c0001t0004g0066
a0001c0001t0004g0067
a0001c0001t0004g0068
a0001c0001t0004g0069
a0001c0001t0004g0070
a0001c0001t0004g0071
a0001c0001t0004g0079
a0001c0001t0004g0080
a0001c0001t0004g0081
a0001c0001t0004g0083
a0001c0001t0004g0084
a0001c0001t0004g0089
a0001c0001t0004g0090
a0001c0001t0006g0047
a0001c0001t0006g0154
a0001c0001t0006g0215
a0001c0001t0006g0217
a0001c0001t0006g0221
a0001c0001t0006g0222
a0001c0001t0006g0224
a0001c0001t0006g0225
a0001c0001t0006g0227
a0001c0001t0007g0058
a0001c0001t0007g0064
a0001c0001t0007g0073
a0001c0001t0007g0074
a0001c0001t0007g0075
a0001c0001t0007g0077
a0001c0001t0007g0078
a0001c0001t0007g0228
a0001c0001t0007g0229
a0001c0001t0007g0260
a0001c0001t0012g0050
a0001c0001t0012g0262
a0001c0001t0013g0281
a0001c0001t0014g0027
a0001c0001t0015g0162
a0001c0001t0015g0181
a0001c0001t0016g0043
a0001c0001t0020g0076
a0001c0001t0021g0057
a0001c0001t0022g0082
a0001c0001t0031g0117
a0001c0001t0032g0176
a0001c0001t0034g0186
a0001c0007t0023g0279
a0001c0008t0006g0218
a0001c0009t0001g0094
a0005c0005t0001g0213
a0005c0005t0011g0046
a0005c0005t0011g0211
a0005c0005t0011g0212
 178 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(175): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00438.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp2
HG00738.hp2
HG00741.hp1
HG01070.hp1
HG01081.hp1
HG01081.hp2
HG01109.hp1
HG01167.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01243.hp1
HG01255.hp1
HG01256.hp2
HG01257.hp2
HG01261.hp1
HG01261.hp2
HG01358.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp2
HG01884.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp2
HG02040.hp2
HG02056.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02083.hp1
HG02129.hp1
HG02148.hp2
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02273.hp1
HG02280.hp1
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02451.hp2
HG02486.hp2
HG02615.hp1
HG02630.hp1
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03491.hp2
HG03492.hp1
HG03540.hp1
HG03669.hp1
HG03688.hp1
HG03704.hp2
HG03710.hp1
HG03834.hp1
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG04115.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
NA18612.hp1
NA18747.hp2
NA18939.hp2
NA18940.hp2
NA18942.hp2
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp2
NA18949.hp2
NA18950.hp2
NA18952.hp2
NA18953.hp1
NA18954.hp1
NA18956.hp1
NA18959.hp2
NA18960.hp1
NA18967.hp1
NA18967.hp2
NA18968.hp2
NA18970.hp2
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18975.hp1
NA18978.hp1
NA18979.hp2
NA18986.hp2
NA18992.hp1
NA18993.hp2
NA18995.hp1
NA18995.hp2
NA18997.hp1
NA18997.hp2
NA18998.hp2
NA18999.hp1
NA19001.hp1
NA19004.hp2
NA19006.hp2
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19054.hp2
NA19055.hp2
NA19056.hp2
NA19057.hp2
NA19058.hp2
NA19060.hp2
NA19062.hp2
NA19064.hp2
NA19066.hp1
NA19074.hp1
NA19077.hp2
NA19081.hp1
NA19082.hp2
NA19083.hp2
NA19084.hp2
NA19086.hp1
NA19087.hp2
NA19088.hp1
NA19090.hp1
NA19090.hp2
NA20752.hp2
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.303+219A>G
c.303+219A>G
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 4/13 chr8 18069573
chr8:18069623 A
A
 G
G
 5 a0003c0003t0005g0024
a0003c0003t0005g0063
a0003c0003t0005g0263
others(2): Show 
a0003c0003t0005g0024
a0003c0003t0005g0063
a0003c0003t0005g0263
a0003c0003t0005g0264
a0003c0003t0005g0265
 7 HG02258.hp1
HG02559.hp1
HG02647.hp1
others(4): Show 
HG02258.hp1
HG02559.hp1
HG02647.hp1
HG03041.hp1
HG03471.hp2
NA18906.hp2
NA19043.hp2
 intron_variant MODIFIER c.303+169T>C
c.303+169T>C
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 4/13 chr8 18069623
chr8:18069675 A
A
 G
G
 96 a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0009
others(93): Show 
a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0072
a0001c0001t0001g0102
a0001c0001t0001g0104
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0153
a0001c0001t0001g0158
a0001c0001t0001g0161
a0001c0001t0001g0167
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0187
a0001c0001t0001g0190
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0214
a0001c0001t0001g0226
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0001t0001g0256
a0001c0001t0001g0257
a0001c0001t0001g0259
a0001c0001t0001g0261
a0001c0001t0001g0278
a0001c0001t0001g0284
a0001c0001t0002g0042
a0001c0001t0002g0165
a0001c0001t0002g0166
a0001c0001t0002g0173
a0001c0001t0002g0188
a0001c0001t0002g0189
a0001c0001t0002g0191
a0001c0001t0002g0195
a0001c0001t0002g0200
a0001c0001t0002g0201
a0001c0001t0002g0216
a0001c0001t0002g0220
a0001c0001t0002g0235
a0001c0001t0003g0159
a0001c0001t0006g0047
a0001c0001t0006g0154
a0001c0001t0006g0215
a0001c0001t0006g0217
a0001c0001t0006g0221
a0001c0001t0006g0222
a0001c0001t0006g0224
a0001c0001t0006g0225
a0001c0001t0006g0227
a0001c0001t0012g0050
a0001c0001t0012g0262
a0001c0001t0013g0281
a0001c0001t0014g0027
a0001c0001t0015g0162
a0001c0001t0015g0181
a0001c0001t0016g0043
a0001c0001t0031g0117
a0001c0001t0032g0176
a0001c0001t0034g0186
a0001c0007t0023g0279
a0001c0008t0006g0218
a0001c0009t0001g0094
a0005c0005t0001g0213
a0005c0005t0011g0046
a0005c0005t0011g0211
a0005c0005t0011g0212
 140 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(137): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp2
HG00423.hp1
HG00597.hp2
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp2
HG00738.hp2
HG00741.hp1
HG01070.hp1
HG01081.hp1
HG01081.hp2
HG01109.hp1
HG01168.hp2
HG01169.hp2
HG01243.hp1
HG01255.hp1
HG01256.hp2
HG01261.hp2
HG01358.hp2
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01952.hp2
HG01975.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp2
HG02056.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02129.hp1
HG02148.hp2
HG02165.hp1
HG02257.hp2
HG02280.hp1
HG02293.hp1
HG02451.hp2
HG02486.hp2
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03209.hp1
HG03209.hp2
HG03491.hp2
HG03492.hp1
HG03669.hp1
HG03688.hp1
HG03704.hp2
HG03710.hp1
HG03834.hp1
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG04184.hp1
HG04184.hp2
HG04228.hp2
NA18747.hp2
NA18939.hp2
NA18940.hp2
NA18942.hp2
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18947.hp2
NA18950.hp2
NA18952.hp2
NA18953.hp1
NA18954.hp1
NA18956.hp1
NA18959.hp2
NA18960.hp1
NA18967.hp1
NA18968.hp2
NA18970.hp2
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18975.hp1
NA18978.hp1
NA18979.hp2
NA18986.hp2
NA18992.hp1
NA18993.hp2
NA18995.hp2
NA18997.hp1
NA18997.hp2
NA18998.hp2
NA19001.hp1
NA19006.hp2
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19055.hp2
NA19056.hp2
NA19057.hp2
NA19058.hp2
NA19060.hp2
NA19062.hp2
NA19064.hp2
NA19066.hp1
NA19074.hp1
NA19077.hp2
NA19081.hp1
NA19082.hp2
NA19083.hp2
NA19084.hp2
NA19087.hp2
NA19088.hp1
NA19090.hp1
NA20752.hp2
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.303+117T>C
c.303+117T>C
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 4/13 chr8 18069675
chr8:18069704 C
C
 T
T
 3 a0001c0001t0007g0073
a0001c0001t0007g0074
a0001c0001t0007g0075
a0001c0001t0007g0073
a0001c0001t0007g0074
a0001c0001t0007g0075
 3 HG00323.hp2
HG01167.hp1
HG01169.hp1
HG00323.hp2
HG01167.hp1
HG01169.hp1
 intron_variant MODIFIER c.303+88G>A
c.303+88G>A
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 4/13 chr8 18069704
chr8:18069739 A
A
 C
C
 127 a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0009
others(124): Show 
a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0072
a0001c0001t0001g0102
a0001c0001t0001g0104
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0153
a0001c0001t0001g0158
a0001c0001t0001g0161
a0001c0001t0001g0167
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0187
a0001c0001t0001g0190
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0214
a0001c0001t0001g0226
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0001t0001g0256
a0001c0001t0001g0257
a0001c0001t0001g0259
a0001c0001t0001g0261
a0001c0001t0001g0278
a0001c0001t0001g0284
a0001c0001t0002g0042
a0001c0001t0002g0165
a0001c0001t0002g0166
a0001c0001t0002g0173
a0001c0001t0002g0188
a0001c0001t0002g0189
a0001c0001t0002g0191
a0001c0001t0002g0195
a0001c0001t0002g0200
a0001c0001t0002g0201
a0001c0001t0002g0216
a0001c0001t0002g0220
a0001c0001t0002g0235
a0001c0001t0002g0251
a0001c0001t0003g0159
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0029
a0001c0001t0004g0065
a0001c0001t0004g0066
a0001c0001t0004g0067
a0001c0001t0004g0068
a0001c0001t0004g0069
a0001c0001t0004g0070
a0001c0001t0004g0071
a0001c0001t0004g0079
a0001c0001t0004g0080
a0001c0001t0004g0081
a0001c0001t0004g0083
a0001c0001t0004g0084
a0001c0001t0004g0089
a0001c0001t0004g0090
a0001c0001t0006g0047
a0001c0001t0006g0154
a0001c0001t0006g0215
a0001c0001t0006g0217
a0001c0001t0006g0221
a0001c0001t0006g0222
a0001c0001t0006g0224
a0001c0001t0006g0225
a0001c0001t0006g0227
a0001c0001t0007g0058
a0001c0001t0007g0064
a0001c0001t0007g0073
a0001c0001t0007g0074
a0001c0001t0007g0075
a0001c0001t0007g0077
a0001c0001t0007g0078
a0001c0001t0007g0228
a0001c0001t0007g0229
a0001c0001t0007g0260
a0001c0001t0012g0050
a0001c0001t0012g0262
a0001c0001t0013g0281
a0001c0001t0014g0027
a0001c0001t0015g0162
a0001c0001t0015g0181
a0001c0001t0016g0043
a0001c0001t0020g0076
a0001c0001t0021g0057
a0001c0001t0022g0082
a0001c0001t0031g0117
a0001c0001t0032g0176
a0001c0001t0034g0186
a0001c0007t0023g0279
a0001c0008t0006g0218
a0001c0009t0001g0094
a0005c0005t0001g0213
a0005c0005t0011g0046
a0005c0005t0011g0211
a0005c0005t0011g0212
 178 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(175): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00438.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp2
HG00738.hp2
HG00741.hp1
HG01070.hp1
HG01081.hp1
HG01081.hp2
HG01109.hp1
HG01167.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01243.hp1
HG01255.hp1
HG01256.hp2
HG01257.hp2
HG01261.hp1
HG01261.hp2
HG01358.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp2
HG01884.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp2
HG02040.hp2
HG02056.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02083.hp1
HG02129.hp1
HG02148.hp2
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02273.hp1
HG02280.hp1
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02451.hp2
HG02486.hp2
HG02615.hp1
HG02630.hp1
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03491.hp2
HG03492.hp1
HG03540.hp1
HG03669.hp1
HG03688.hp1
HG03704.hp2
HG03710.hp1
HG03834.hp1
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG04115.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
NA18612.hp1
NA18747.hp2
NA18939.hp2
NA18940.hp2
NA18942.hp2
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp2
NA18949.hp2
NA18950.hp2
NA18952.hp2
NA18953.hp1
NA18954.hp1
NA18956.hp1
NA18959.hp2
NA18960.hp1
NA18967.hp1
NA18967.hp2
NA18968.hp2
NA18970.hp2
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18975.hp1
NA18978.hp1
NA18979.hp2
NA18986.hp2
NA18992.hp1
NA18993.hp2
NA18995.hp1
NA18995.hp2
NA18997.hp1
NA18997.hp2
NA18998.hp2
NA18999.hp1
NA19001.hp1
NA19004.hp2
NA19006.hp2
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19054.hp2
NA19055.hp2
NA19056.hp2
NA19057.hp2
NA19058.hp2
NA19060.hp2
NA19062.hp2
NA19064.hp2
NA19066.hp1
NA19074.hp1
NA19077.hp2
NA19081.hp1
NA19082.hp2
NA19083.hp2
NA19084.hp2
NA19086.hp1
NA19087.hp2
NA19088.hp1
NA19090.hp1
NA19090.hp2
NA20752.hp2
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.303+53T>G
c.303+53T>G
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 4/13 chr8 18069739
chr8:18069771 G
G
 T
T
 96 a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0009
others(93): Show 
a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0072
a0001c0001t0001g0102
a0001c0001t0001g0104
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0153
a0001c0001t0001g0158
a0001c0001t0001g0161
a0001c0001t0001g0167
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0187
a0001c0001t0001g0190
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0214
a0001c0001t0001g0226
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0001t0001g0256
a0001c0001t0001g0257
a0001c0001t0001g0259
a0001c0001t0001g0261
a0001c0001t0001g0278
a0001c0001t0001g0284
a0001c0001t0002g0042
a0001c0001t0002g0165
a0001c0001t0002g0166
a0001c0001t0002g0173
a0001c0001t0002g0188
a0001c0001t0002g0189
a0001c0001t0002g0191
a0001c0001t0002g0195
a0001c0001t0002g0200
a0001c0001t0002g0201
a0001c0001t0002g0216
a0001c0001t0002g0220
a0001c0001t0002g0235
a0001c0001t0003g0159
a0001c0001t0006g0047
a0001c0001t0006g0154
a0001c0001t0006g0215
a0001c0001t0006g0217
a0001c0001t0006g0221
a0001c0001t0006g0222
a0001c0001t0006g0224
a0001c0001t0006g0225
a0001c0001t0006g0227
a0001c0001t0012g0050
a0001c0001t0012g0262
a0001c0001t0013g0281
a0001c0001t0014g0027
a0001c0001t0015g0162
a0001c0001t0015g0181
a0001c0001t0016g0043
a0001c0001t0031g0117
a0001c0001t0032g0176
a0001c0001t0034g0186
a0001c0007t0023g0279
a0001c0008t0006g0218
a0001c0009t0001g0094
a0005c0005t0001g0213
a0005c0005t0011g0046
a0005c0005t0011g0211
a0005c0005t0011g0212
 140 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(137): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp2
HG00423.hp1
HG00597.hp2
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp2
HG00738.hp2
HG00741.hp1
HG01070.hp1
HG01081.hp1
HG01081.hp2
HG01109.hp1
HG01168.hp2
HG01169.hp2
HG01243.hp1
HG01255.hp1
HG01256.hp2
HG01261.hp2
HG01358.hp2
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01952.hp2
HG01975.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp2
HG02056.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02129.hp1
HG02148.hp2
HG02165.hp1
HG02257.hp2
HG02280.hp1
HG02293.hp1
HG02451.hp2
HG02486.hp2
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03209.hp1
HG03209.hp2
HG03491.hp2
HG03492.hp1
HG03669.hp1
HG03688.hp1
HG03704.hp2
HG03710.hp1
HG03834.hp1
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG04184.hp1
HG04184.hp2
HG04228.hp2
NA18747.hp2
NA18939.hp2
NA18940.hp2
NA18942.hp2
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18947.hp2
NA18950.hp2
NA18952.hp2
NA18953.hp1
NA18954.hp1
NA18956.hp1
NA18959.hp2
NA18960.hp1
NA18967.hp1
NA18968.hp2
NA18970.hp2
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18975.hp1
NA18978.hp1
NA18979.hp2
NA18986.hp2
NA18992.hp1
NA18993.hp2
NA18995.hp2
NA18997.hp1
NA18997.hp2
NA18998.hp2
NA19001.hp1
NA19006.hp2
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19055.hp2
NA19056.hp2
NA19057.hp2
NA19058.hp2
NA19060.hp2
NA19062.hp2
NA19064.hp2
NA19066.hp1
NA19074.hp1
NA19077.hp2
NA19081.hp1
NA19082.hp2
NA19083.hp2
NA19084.hp2
NA19087.hp2
NA19088.hp1
NA19090.hp1
NA20752.hp2
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.303+21C>A
c.303+21C>A
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 4/13 chr8 18069771
chr8:18069785 C
C
 T
T
 127 a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0009
others(124): Show 
a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0072
a0001c0001t0001g0102
a0001c0001t0001g0104
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0153
a0001c0001t0001g0158
a0001c0001t0001g0161
a0001c0001t0001g0167
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0187
a0001c0001t0001g0190
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0214
a0001c0001t0001g0226
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0001t0001g0256
a0001c0001t0001g0257
a0001c0001t0001g0259
a0001c0001t0001g0261
a0001c0001t0001g0278
a0001c0001t0001g0284
a0001c0001t0002g0042
a0001c0001t0002g0165
a0001c0001t0002g0166
a0001c0001t0002g0173
a0001c0001t0002g0188
a0001c0001t0002g0189
a0001c0001t0002g0191
a0001c0001t0002g0195
a0001c0001t0002g0200
a0001c0001t0002g0201
a0001c0001t0002g0216
a0001c0001t0002g0220
a0001c0001t0002g0235
a0001c0001t0002g0251
a0001c0001t0003g0159
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0029
a0001c0001t0004g0065
a0001c0001t0004g0066
a0001c0001t0004g0067
a0001c0001t0004g0068
a0001c0001t0004g0069
a0001c0001t0004g0070
a0001c0001t0004g0071
a0001c0001t0004g0079
a0001c0001t0004g0080
a0001c0001t0004g0081
a0001c0001t0004g0083
a0001c0001t0004g0084
a0001c0001t0004g0089
a0001c0001t0004g0090
a0001c0001t0006g0047
a0001c0001t0006g0154
a0001c0001t0006g0215
a0001c0001t0006g0217
a0001c0001t0006g0221
a0001c0001t0006g0222
a0001c0001t0006g0224
a0001c0001t0006g0225
a0001c0001t0006g0227
a0001c0001t0007g0058
a0001c0001t0007g0064
a0001c0001t0007g0073
a0001c0001t0007g0074
a0001c0001t0007g0075
a0001c0001t0007g0077
a0001c0001t0007g0078
a0001c0001t0007g0228
a0001c0001t0007g0229
a0001c0001t0007g0260
a0001c0001t0012g0050
a0001c0001t0012g0262
a0001c0001t0013g0281
a0001c0001t0014g0027
a0001c0001t0015g0162
a0001c0001t0015g0181
a0001c0001t0016g0043
a0001c0001t0020g0076
a0001c0001t0021g0057
a0001c0001t0022g0082
a0001c0001t0031g0117
a0001c0001t0032g0176
a0001c0001t0034g0186
a0001c0007t0023g0279
a0001c0008t0006g0218
a0001c0009t0001g0094
a0005c0005t0001g0213
a0005c0005t0011g0046
a0005c0005t0011g0211
a0005c0005t0011g0212
 178 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(175): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00438.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp2
HG00738.hp2
HG00741.hp1
HG01070.hp1
HG01081.hp1
HG01081.hp2
HG01109.hp1
HG01167.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01243.hp1
HG01255.hp1
HG01256.hp2
HG01257.hp2
HG01261.hp1
HG01261.hp2
HG01358.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp2
HG01884.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp2
HG02040.hp2
HG02056.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02083.hp1
HG02129.hp1
HG02148.hp2
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02273.hp1
HG02280.hp1
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02451.hp2
HG02486.hp2
HG02615.hp1
HG02630.hp1
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03491.hp2
HG03492.hp1
HG03540.hp1
HG03669.hp1
HG03688.hp1
HG03704.hp2
HG03710.hp1
HG03834.hp1
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG04115.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
NA18612.hp1
NA18747.hp2
NA18939.hp2
NA18940.hp2
NA18942.hp2
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp2
NA18949.hp2
NA18950.hp2
NA18952.hp2
NA18953.hp1
NA18954.hp1
NA18956.hp1
NA18959.hp2
NA18960.hp1
NA18967.hp1
NA18967.hp2
NA18968.hp2
NA18970.hp2
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18975.hp1
NA18978.hp1
NA18979.hp2
NA18986.hp2
NA18992.hp1
NA18993.hp2
NA18995.hp1
NA18995.hp2
NA18997.hp1
NA18997.hp2
NA18998.hp2
NA18999.hp1
NA19001.hp1
NA19004.hp2
NA19006.hp2
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19054.hp2
NA19055.hp2
NA19056.hp2
NA19057.hp2
NA19058.hp2
NA19060.hp2
NA19062.hp2
NA19064.hp2
NA19066.hp1
NA19074.hp1
NA19077.hp2
NA19081.hp1
NA19082.hp2
NA19083.hp2
NA19084.hp2
NA19086.hp1
NA19087.hp2
NA19088.hp1
NA19090.hp1
NA19090.hp2
NA20752.hp2
NA20905.hp1
homoSapiens_chm13v2.hp1
 splice_region_variant&intron_variant LOW c.303+7G>A
c.303+7G>A
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 4/13 chr8 18069785
chr8:18069954 T
T
 A
A
 4 a0005c0005t0001g0213
a0005c0005t0011g0046
a0005c0005t0011g0211
others(1): Show 
a0005c0005t0001g0213
a0005c0005t0011g0046
a0005c0005t0011g0211
a0005c0005t0011g0212
 5 HG02698.hp1
HG02698.hp2
HG03017.hp1
others(2): Show 
HG02698.hp1
HG02698.hp2
HG03017.hp1
HG03834.hp1
HG04228.hp2
 intron_variant MODIFIER c.217-76A>T
c.217-76A>T
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 3/13 chr8 18069954
chr8:18069965 G
G
 C
C
 1 a0001c0001t0001g0102
a0001c0001t0001g0102
 1 HG01981.hp2
HG01981.hp2
 intron_variant MODIFIER c.217-87C>G
c.217-87C>G
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 3/13 chr8 18069965
chr8:18069994 T
T
 A
A
 1 a0003c0003t0010g0283
a0003c0003t0010g0283
 1 HG01891.hp1
HG01891.hp1
 intron_variant MODIFIER c.217-116A>T
c.217-116A>T
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 3/13 chr8 18069994
chr8:18070007 A
A
 G
G
 127 a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0009
others(124): Show 
a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0072
a0001c0001t0001g0102
a0001c0001t0001g0104
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0153
a0001c0001t0001g0158
a0001c0001t0001g0161
a0001c0001t0001g0167
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0187
a0001c0001t0001g0190
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0214
a0001c0001t0001g0226
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0001t0001g0256
a0001c0001t0001g0257
a0001c0001t0001g0259
a0001c0001t0001g0261
a0001c0001t0001g0278
a0001c0001t0001g0284
a0001c0001t0002g0042
a0001c0001t0002g0165
a0001c0001t0002g0166
a0001c0001t0002g0173
a0001c0001t0002g0188
a0001c0001t0002g0189
a0001c0001t0002g0191
a0001c0001t0002g0195
a0001c0001t0002g0200
a0001c0001t0002g0201
a0001c0001t0002g0216
a0001c0001t0002g0220
a0001c0001t0002g0235
a0001c0001t0002g0251
a0001c0001t0003g0159
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0029
a0001c0001t0004g0065
a0001c0001t0004g0066
a0001c0001t0004g0067
a0001c0001t0004g0068
a0001c0001t0004g0069
a0001c0001t0004g0070
a0001c0001t0004g0071
a0001c0001t0004g0079
a0001c0001t0004g0080
a0001c0001t0004g0081
a0001c0001t0004g0083
a0001c0001t0004g0084
a0001c0001t0004g0089
a0001c0001t0004g0090
a0001c0001t0006g0047
a0001c0001t0006g0154
a0001c0001t0006g0215
a0001c0001t0006g0217
a0001c0001t0006g0221
a0001c0001t0006g0222
a0001c0001t0006g0224
a0001c0001t0006g0225
a0001c0001t0006g0227
a0001c0001t0007g0058
a0001c0001t0007g0064
a0001c0001t0007g0073
a0001c0001t0007g0074
a0001c0001t0007g0075
a0001c0001t0007g0077
a0001c0001t0007g0078
a0001c0001t0007g0228
a0001c0001t0007g0229
a0001c0001t0007g0260
a0001c0001t0012g0050
a0001c0001t0012g0262
a0001c0001t0013g0281
a0001c0001t0014g0027
a0001c0001t0015g0162
a0001c0001t0015g0181
a0001c0001t0016g0043
a0001c0001t0020g0076
a0001c0001t0021g0057
a0001c0001t0022g0082
a0001c0001t0031g0117
a0001c0001t0032g0176
a0001c0001t0034g0186
a0001c0007t0023g0279
a0001c0008t0006g0218
a0001c0009t0001g0094
a0005c0005t0001g0213
a0005c0005t0011g0046
a0005c0005t0011g0211
a0005c0005t0011g0212
 178 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(175): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00438.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp2
HG00738.hp2
HG00741.hp1
HG01070.hp1
HG01081.hp1
HG01081.hp2
HG01109.hp1
HG01167.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01243.hp1
HG01255.hp1
HG01256.hp2
HG01257.hp2
HG01261.hp1
HG01261.hp2
HG01358.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp2
HG01884.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp2
HG02040.hp2
HG02056.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02083.hp1
HG02129.hp1
HG02148.hp2
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02273.hp1
HG02280.hp1
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02451.hp2
HG02486.hp2
HG02615.hp1
HG02630.hp1
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03491.hp2
HG03492.hp1
HG03540.hp1
HG03669.hp1
HG03688.hp1
HG03704.hp2
HG03710.hp1
HG03834.hp1
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG04115.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
NA18612.hp1
NA18747.hp2
NA18939.hp2
NA18940.hp2
NA18942.hp2
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp2
NA18949.hp2
NA18950.hp2
NA18952.hp2
NA18953.hp1
NA18954.hp1
NA18956.hp1
NA18959.hp2
NA18960.hp1
NA18967.hp1
NA18967.hp2
NA18968.hp2
NA18970.hp2
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18975.hp1
NA18978.hp1
NA18979.hp2
NA18986.hp2
NA18992.hp1
NA18993.hp2
NA18995.hp1
NA18995.hp2
NA18997.hp1
NA18997.hp2
NA18998.hp2
NA18999.hp1
NA19001.hp1
NA19004.hp2
NA19006.hp2
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19054.hp2
NA19055.hp2
NA19056.hp2
NA19057.hp2
NA19058.hp2
NA19060.hp2
NA19062.hp2
NA19064.hp2
NA19066.hp1
NA19074.hp1
NA19077.hp2
NA19081.hp1
NA19082.hp2
NA19083.hp2
NA19084.hp2
NA19086.hp1
NA19087.hp2
NA19088.hp1
NA19090.hp1
NA19090.hp2
NA20752.hp2
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.217-129T>C
c.217-129T>C
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 3/13 chr8 18070007
chr8:18070043 C
C
 A
A
 1 a0002c0002t0002g0148
a0002c0002t0002g0148
 1 NA19056.hp1
NA19056.hp1
 intron_variant MODIFIER c.217-165G>T
c.217-165G>T
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 3/13 chr8 18070043
chr8:18070100 C
C
 T
T
 15 a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0065
others(12): Show 
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0065
a0001c0001t0004g0066
a0001c0001t0004g0067
a0001c0001t0004g0068
a0001c0001t0004g0069
a0001c0001t0004g0070
a0001c0001t0004g0071
a0001c0001t0004g0080
a0001c0001t0004g0083
a0001c0001t0004g0084
a0001c0001t0004g0089
a0001c0001t0004g0090
a0001c0001t0021g0057
 21 HG00438.hp2
HG01257.hp2
HG01361.hp1
others(18): Show 
HG00438.hp2
HG01257.hp2
HG01361.hp1
HG01433.hp1
HG01496.hp1
HG01952.hp1
HG02257.hp1
HG02273.hp1
HG02293.hp2
HG02300.hp1
NA18612.hp1
NA18945.hp2
NA18949.hp2
NA18967.hp2
NA18972.hp1
NA18995.hp1
NA18999.hp1
NA19004.hp2
NA19054.hp2
NA19086.hp1
NA19090.hp2
 intron_variant MODIFIER c.217-222G>A
c.217-222G>A
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 3/13 chr8 18070100
chr8:18070125 T
T
 C
C
 126 a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0009
others(123): Show 
a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0072
a0001c0001t0001g0104
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0153
a0001c0001t0001g0158
a0001c0001t0001g0161
a0001c0001t0001g0167
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0187
a0001c0001t0001g0190
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0214
a0001c0001t0001g0226
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0001t0001g0256
a0001c0001t0001g0257
a0001c0001t0001g0259
a0001c0001t0001g0261
a0001c0001t0001g0278
a0001c0001t0001g0284
a0001c0001t0002g0042
a0001c0001t0002g0165
a0001c0001t0002g0166
a0001c0001t0002g0173
a0001c0001t0002g0188
a0001c0001t0002g0189
a0001c0001t0002g0191
a0001c0001t0002g0195
a0001c0001t0002g0200
a0001c0001t0002g0201
a0001c0001t0002g0216
a0001c0001t0002g0220
a0001c0001t0002g0235
a0001c0001t0002g0251
a0001c0001t0003g0159
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0029
a0001c0001t0004g0065
a0001c0001t0004g0066
a0001c0001t0004g0067
a0001c0001t0004g0068
a0001c0001t0004g0069
a0001c0001t0004g0070
a0001c0001t0004g0071
a0001c0001t0004g0079
a0001c0001t0004g0080
a0001c0001t0004g0081
a0001c0001t0004g0083
a0001c0001t0004g0084
a0001c0001t0004g0089
a0001c0001t0004g0090
a0001c0001t0006g0047
a0001c0001t0006g0154
a0001c0001t0006g0215
a0001c0001t0006g0217
a0001c0001t0006g0221
a0001c0001t0006g0222
a0001c0001t0006g0224
a0001c0001t0006g0225
a0001c0001t0006g0227
a0001c0001t0007g0058
a0001c0001t0007g0064
a0001c0001t0007g0073
a0001c0001t0007g0074
a0001c0001t0007g0075
a0001c0001t0007g0077
a0001c0001t0007g0078
a0001c0001t0007g0228
a0001c0001t0007g0229
a0001c0001t0007g0260
a0001c0001t0012g0050
a0001c0001t0012g0262
a0001c0001t0013g0281
a0001c0001t0014g0027
a0001c0001t0015g0162
a0001c0001t0015g0181
a0001c0001t0016g0043
a0001c0001t0020g0076
a0001c0001t0021g0057
a0001c0001t0022g0082
a0001c0001t0031g0117
a0001c0001t0032g0176
a0001c0001t0034g0186
a0001c0007t0023g0279
a0001c0008t0006g0218
a0001c0009t0001g0094
a0005c0005t0001g0213
a0005c0005t0011g0046
a0005c0005t0011g0211
a0005c0005t0011g0212
 177 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(174): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00438.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp2
HG00738.hp2
HG00741.hp1
HG01070.hp1
HG01081.hp1
HG01081.hp2
HG01109.hp1
HG01167.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01243.hp1
HG01255.hp1
HG01256.hp2
HG01257.hp2
HG01261.hp1
HG01261.hp2
HG01358.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp2
HG01884.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01978.hp2
HG01981.hp1
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp2
HG02040.hp2
HG02056.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02083.hp1
HG02129.hp1
HG02148.hp2
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02273.hp1
HG02280.hp1
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02451.hp2
HG02486.hp2
HG02615.hp1
HG02630.hp1
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03491.hp2
HG03492.hp1
HG03540.hp1
HG03669.hp1
HG03688.hp1
HG03704.hp2
HG03710.hp1
HG03834.hp1
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG04115.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
NA18612.hp1
NA18747.hp2
NA18939.hp2
NA18940.hp2
NA18942.hp2
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp2
NA18949.hp2
NA18950.hp2
NA18952.hp2
NA18953.hp1
NA18954.hp1
NA18956.hp1
NA18959.hp2
NA18960.hp1
NA18967.hp1
NA18967.hp2
NA18968.hp2
NA18970.hp2
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18975.hp1
NA18978.hp1
NA18979.hp2
NA18986.hp2
NA18992.hp1
NA18993.hp2
NA18995.hp1
NA18995.hp2
NA18997.hp1
NA18997.hp2
NA18998.hp2
NA18999.hp1
NA19001.hp1
NA19004.hp2
NA19006.hp2
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19054.hp2
NA19055.hp2
NA19056.hp2
NA19057.hp2
NA19058.hp2
NA19060.hp2
NA19062.hp2
NA19064.hp2
NA19066.hp1
NA19074.hp1
NA19077.hp2
NA19081.hp1
NA19082.hp2
NA19083.hp2
NA19084.hp2
NA19086.hp1
NA19087.hp2
NA19088.hp1
NA19090.hp1
NA19090.hp2
NA20752.hp2
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.217-247A>G
c.217-247A>G
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 3/13 chr8 18070125
chr8:18070140 C
C
 T
T
 1 a0002c0002t0003g0236
a0002c0002t0003g0236
 1 HG04204.hp2
HG04204.hp2
 intron_variant MODIFIER c.217-262G>A
c.217-262G>A
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 3/13 chr8 18070140
chr8:18070155 A
A
 AT
AT
 125 a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0009
others(122): Show 
a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0072
a0001c0001t0001g0102
a0001c0001t0001g0104
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0153
a0001c0001t0001g0158
a0001c0001t0001g0161
a0001c0001t0001g0167
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0187
a0001c0001t0001g0190
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0214
a0001c0001t0001g0226
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0001t0001g0256
a0001c0001t0001g0257
a0001c0001t0001g0259
a0001c0001t0001g0261
a0001c0001t0001g0278
a0001c0001t0001g0284
a0001c0001t0002g0042
a0001c0001t0002g0165
a0001c0001t0002g0166
a0001c0001t0002g0173
a0001c0001t0002g0188
a0001c0001t0002g0189
a0001c0001t0002g0191
a0001c0001t0002g0195
a0001c0001t0002g0200
a0001c0001t0002g0201
a0001c0001t0002g0216
a0001c0001t0002g0220
a0001c0001t0002g0235
a0001c0001t0002g0251
a0001c0001t0003g0159
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0029
a0001c0001t0004g0065
a0001c0001t0004g0066
a0001c0001t0004g0067
a0001c0001t0004g0068
a0001c0001t0004g0069
a0001c0001t0004g0070
a0001c0001t0004g0071
a0001c0001t0004g0079
a0001c0001t0004g0080
a0001c0001t0004g0081
a0001c0001t0004g0083
a0001c0001t0004g0084
a0001c0001t0004g0089
a0001c0001t0004g0090
a0001c0001t0006g0047
a0001c0001t0006g0154
a0001c0001t0006g0215
a0001c0001t0006g0217
a0001c0001t0006g0221
a0001c0001t0006g0222
a0001c0001t0006g0224
a0001c0001t0006g0225
a0001c0001t0006g0227
a0001c0001t0007g0058
a0001c0001t0007g0064
a0001c0001t0007g0073
a0001c0001t0007g0074
a0001c0001t0007g0075
a0001c0001t0007g0077
a0001c0001t0007g0078
a0001c0001t0007g0228
a0001c0001t0007g0229
a0001c0001t0007g0260
a0001c0001t0012g0050
a0001c0001t0012g0262
a0001c0001t0013g0281
a0001c0001t0014g0027
a0001c0001t0015g0162
a0001c0001t0015g0181
a0001c0001t0016g0043
a0001c0001t0020g0076
a0001c0001t0021g0057
a0001c0001t0022g0082
a0001c0001t0031g0117
a0001c0001t0032g0176
a0001c0001t0034g0186
a0001c0008t0006g0218
a0001c0009t0001g0094
a0005c0005t0001g0213
a0005c0005t0011g0046
a0005c0005t0011g0211
a0005c0005t0011g0212
 176 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(173): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00438.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp2
HG00738.hp2
HG00741.hp1
HG01070.hp1
HG01081.hp1
HG01081.hp2
HG01109.hp1
HG01167.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01243.hp1
HG01255.hp1
HG01256.hp2
HG01257.hp2
HG01261.hp1
HG01261.hp2
HG01358.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp2
HG01884.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp2
HG02040.hp2
HG02056.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02083.hp1
HG02129.hp1
HG02148.hp2
HG02165.hp1
HG02257.hp1
HG02273.hp1
HG02280.hp1
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02451.hp2
HG02486.hp2
HG02615.hp1
HG02630.hp1
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03491.hp2
HG03492.hp1
HG03540.hp1
HG03669.hp1
HG03688.hp1
HG03704.hp2
HG03710.hp1
HG03834.hp1
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG04115.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
NA18612.hp1
NA18747.hp2
NA18939.hp2
NA18940.hp2
NA18942.hp2
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp2
NA18949.hp2
NA18950.hp2
NA18952.hp2
NA18953.hp1
NA18954.hp1
NA18956.hp1
NA18959.hp2
NA18960.hp1
NA18967.hp1
NA18967.hp2
NA18968.hp2
NA18970.hp2
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18975.hp1
NA18978.hp1
NA18979.hp2
NA18986.hp2
NA18992.hp1
NA18993.hp2
NA18995.hp1
NA18995.hp2
NA18997.hp1
NA18997.hp2
NA18998.hp2
NA18999.hp1
NA19001.hp1
NA19004.hp2
NA19006.hp2
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19054.hp2
NA19055.hp2
NA19057.hp2
NA19058.hp2
NA19060.hp2
NA19062.hp2
NA19064.hp2
NA19066.hp1
NA19074.hp1
NA19077.hp2
NA19081.hp1
NA19082.hp2
NA19083.hp2
NA19084.hp2
NA19086.hp1
NA19087.hp2
NA19088.hp1
NA19090.hp1
NA19090.hp2
NA20752.hp2
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.217-278dupA
c.217-278dupA
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 3/13 chr8 18070155
chr8:18070175 G
G
 A
A
 4 a0005c0005t0001g0213
a0005c0005t0011g0046
a0005c0005t0011g0211
others(1): Show 
a0005c0005t0001g0213
a0005c0005t0011g0046
a0005c0005t0011g0211
a0005c0005t0011g0212
 5 HG02698.hp1
HG02698.hp2
HG03017.hp1
others(2): Show 
HG02698.hp1
HG02698.hp2
HG03017.hp1
HG03834.hp1
HG04228.hp2
 intron_variant MODIFIER c.217-297C>T
c.217-297C>T
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 3/13 chr8 18070175
chr8:18070189 G
G
 T
T
 145 a0002c0002t0001g0013
a0002c0002t0001g0032
a0002c0002t0001g0136
others(142): Show 
a0002c0002t0001g0013
a0002c0002t0001g0032
a0002c0002t0001g0136
a0002c0002t0001g0150
a0002c0002t0002g0001
a0002c0002t0002g0008
a0002c0002t0002g0017
a0002c0002t0002g0018
a0002c0002t0002g0021
a0002c0002t0002g0028
a0002c0002t0002g0034
a0002c0002t0002g0035
a0002c0002t0002g0036
a0002c0002t0002g0037
a0002c0002t0002g0038
a0002c0002t0002g0039
a0002c0002t0002g0055
a0002c0002t0002g0092
a0002c0002t0002g0093
a0002c0002t0002g0099
a0002c0002t0002g0100
a0002c0002t0002g0120
a0002c0002t0002g0131
a0002c0002t0002g0132
a0002c0002t0002g0133
a0002c0002t0002g0135
a0002c0002t0002g0137
a0002c0002t0002g0138
a0002c0002t0002g0139
a0002c0002t0002g0140
a0002c0002t0002g0141
a0002c0002t0002g0142
a0002c0002t0002g0143
a0002c0002t0002g0144
a0002c0002t0002g0145
a0002c0002t0002g0146
a0002c0002t0002g0148
a0002c0002t0002g0149
a0002c0002t0002g0151
a0002c0002t0002g0152
a0002c0002t0002g0155
a0002c0002t0002g0156
a0002c0002t0002g0157
a0002c0002t0002g0196
a0002c0002t0002g0209
a0002c0002t0002g0240
a0002c0002t0002g0258
a0002c0002t0002g0285
a0002c0002t0003g0004
a0002c0002t0003g0006
a0002c0002t0003g0025
a0002c0002t0003g0031
a0002c0002t0003g0048
a0002c0002t0003g0049
a0002c0002t0003g0059
a0002c0002t0003g0060
a0002c0002t0003g0061
a0002c0002t0003g0091
a0002c0002t0003g0095
a0002c0002t0003g0096
a0002c0002t0003g0097
a0002c0002t0003g0098
a0002c0002t0003g0101
a0002c0002t0003g0103
a0002c0002t0003g0105
a0002c0002t0003g0106
a0002c0002t0003g0108
a0002c0002t0003g0109
a0002c0002t0003g0111
a0002c0002t0003g0113
a0002c0002t0003g0115
a0002c0002t0003g0116
a0002c0002t0003g0118
a0002c0002t0003g0134
a0002c0002t0003g0160
a0002c0002t0003g0210
a0002c0002t0003g0232
a0002c0002t0003g0233
a0002c0002t0003g0236
a0002c0002t0003g0237
a0002c0002t0003g0238
a0002c0002t0003g0239
a0002c0002t0003g0244
a0002c0002t0003g0245
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0248
a0002c0002t0003g0250
a0002c0002t0003g0252
a0002c0002t0003g0253
a0002c0002t0003g0255
a0002c0002t0003g0266
a0002c0002t0003g0267
a0002c0002t0003g0273
a0002c0002t0003g0274
a0002c0002t0003g0275
a0002c0002t0004g0112
a0002c0002t0005g0241
a0002c0002t0006g0147
a0002c0002t0018g0270
a0002c0002t0019g0243
a0002c0002t0025g0054
a0002c0002t0027g0242
a0002c0002t0028g0249
a0002c0002t0029g0107
a0002c0002t0030g0254
a0002c0002t0033g0053
a0002c0002t0035g0286
a0003c0003t0001g0051
a0003c0003t0001g0269
a0003c0003t0002g0223
a0003c0003t0005g0024
a0003c0003t0005g0026
a0003c0003t0005g0056
a0003c0003t0005g0063
a0003c0003t0005g0168
a0003c0003t0005g0206
a0003c0003t0005g0263
a0003c0003t0005g0264
a0003c0003t0005g0265
a0003c0003t0005g0276
a0003c0003t0005g0277
a0003c0003t0008g0022
a0003c0003t0008g0030
a0003c0003t0008g0085
a0003c0003t0008g0086
a0003c0003t0008g0087
a0003c0003t0008g0088
a0003c0003t0009g0014
a0003c0003t0009g0062
a0003c0003t0009g0198
a0003c0003t0009g0199
a0003c0003t0009g0219
a0003c0003t0010g0052
a0003c0003t0010g0164
a0003c0003t0010g0283
a0003c0003t0013g0271
a0003c0003t0017g0272
a0003c0003t0024g0282
a0003c0003t0026g0268
a0004c0004t0003g0007
a0004c0004t0003g0114
a0006c0006t0003g0023
a0006c0006t0003g0130
a0006c0006t0003g0234
 218 HG00140.hp2
HG00280.hp1
HG00323.hp1
others(215): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp1
HG00423.hp2
HG00438.hp1
HG00558.hp1
HG00597.hp1
HG00621.hp1
HG00621.hp2
HG00642.hp1
HG00738.hp1
HG00741.hp2
HG01070.hp2
HG01099.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01243.hp2
HG01255.hp2
HG01256.hp1
HG01257.hp1
HG01258.hp1
HG01258.hp2
HG01358.hp1
HG01361.hp2
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01891.hp1
HG01891.hp2
HG01943.hp2
HG01975.hp2
HG01978.hp1
HG02040.hp1
HG02056.hp2
HG02071.hp1
HG02080.hp2
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp2
HG02300.hp2
HG02451.hp1
HG02486.hp1
HG02523.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03492.hp2
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp2
HG03688.hp2
HG03704.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp2
HG03942.hp2
HG04115.hp2
HG04204.hp2
HG04228.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18940.hp1
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18944.hp1
NA18947.hp1
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18950.hp1
NA18952.hp1
NA18953.hp2
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp2
NA18959.hp1
NA18960.hp2
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp2
NA18979.hp1
NA18981.hp1
NA18981.hp2
NA18982.hp2
NA18983.hp1
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18988.hp1
NA18991.hp1
NA18992.hp2
NA18993.hp1
NA18998.hp1
NA18999.hp2
NA19001.hp2
NA19004.hp1
NA19007.hp2
NA19010.hp1
NA19011.hp1
NA19043.hp2
NA19054.hp1
NA19055.hp1
NA19056.hp1
NA19057.hp1
NA19058.hp1
NA19060.hp1
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19076.hp2
NA19077.hp1
NA19081.hp2
NA19082.hp1
NA19084.hp1
NA19086.hp2
NA19087.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20752.hp1
NA20805.hp1
NA20805.hp2
NA20905.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.217-311C>A
c.217-311C>A
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 3/13 chr8 18070189
chr8:18070205 A
A
 G
G
 1 a0001c0001t0001g0124
a0001c0001t0001g0124
 1 NA18952.hp2
NA18952.hp2
 intron_variant MODIFIER c.217-327T>C
c.217-327T>C
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 3/13 chr8 18070205
chr8:18070213 G
G
 A
A
 1 a0001c0001t0013g0281
a0001c0001t0013g0281
 1 HG02976.hp2
HG02976.hp2
 intron_variant MODIFIER c.217-335C>T
c.217-335C>T
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 3/13 chr8 18070213
chr8:18070336 G
G
 A
A
 8 a0003c0003t0001g0051
a0003c0003t0001g0269
a0003c0003t0009g0014
others(5): Show 
a0003c0003t0001g0051
a0003c0003t0001g0269
a0003c0003t0009g0014
a0003c0003t0009g0062
a0003c0003t0009g0198
a0003c0003t0009g0199
a0003c0003t0009g0219
a0003c0003t0017g0272
 12 HG02109.hp2
HG02647.hp2
HG02683.hp2
others(9): Show 
HG02109.hp2
HG02647.hp2
HG02683.hp2
HG02723.hp1
HG02735.hp2
HG02818.hp1
HG02896.hp1
HG02897.hp2
HG03453.hp2
HG03710.hp2
HG04228.hp1
NA19240.hp1
 intron_variant MODIFIER c.217-458C>T
c.217-458C>T
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 3/13 chr8 18070336
chr8:18070416 G
G
 A
A
 2 a0002c0002t0002g0146
a0002c0002t0002g0196
a0002c0002t0002g0146
a0002c0002t0002g0196
 2 HG00280.hp1
HG03942.hp2
HG00280.hp1
HG03942.hp2
 intron_variant MODIFIER c.217-538C>T
c.217-538C>T
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 3/13 chr8 18070416
chr8:18070423 C
C
 T
T
 1 a0001c0001t0002g0173
a0001c0001t0002g0173
 1 HG02004.hp2
HG02004.hp2
 intron_variant MODIFIER c.217-545G>A
c.217-545G>A
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 3/13 chr8 18070423
chr8:18070500 T
T
 C
C
 127 a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0009
others(124): Show 
a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0072
a0001c0001t0001g0102
a0001c0001t0001g0104
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0153
a0001c0001t0001g0158
a0001c0001t0001g0161
a0001c0001t0001g0167
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0187
a0001c0001t0001g0190
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0214
a0001c0001t0001g0226
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0001t0001g0256
a0001c0001t0001g0257
a0001c0001t0001g0259
a0001c0001t0001g0261
a0001c0001t0001g0278
a0001c0001t0001g0284
a0001c0001t0002g0042
a0001c0001t0002g0165
a0001c0001t0002g0166
a0001c0001t0002g0173
a0001c0001t0002g0188
a0001c0001t0002g0189
a0001c0001t0002g0191
a0001c0001t0002g0195
a0001c0001t0002g0200
a0001c0001t0002g0201
a0001c0001t0002g0216
a0001c0001t0002g0220
a0001c0001t0002g0235
a0001c0001t0002g0251
a0001c0001t0003g0159
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0029
a0001c0001t0004g0065
a0001c0001t0004g0066
a0001c0001t0004g0067
a0001c0001t0004g0068
a0001c0001t0004g0069
a0001c0001t0004g0070
a0001c0001t0004g0071
a0001c0001t0004g0079
a0001c0001t0004g0080
a0001c0001t0004g0081
a0001c0001t0004g0083
a0001c0001t0004g0084
a0001c0001t0004g0089
a0001c0001t0004g0090
a0001c0001t0006g0047
a0001c0001t0006g0154
a0001c0001t0006g0215
a0001c0001t0006g0217
a0001c0001t0006g0221
a0001c0001t0006g0222
a0001c0001t0006g0224
a0001c0001t0006g0225
a0001c0001t0006g0227
a0001c0001t0007g0058
a0001c0001t0007g0064
a0001c0001t0007g0073
a0001c0001t0007g0074
a0001c0001t0007g0075
a0001c0001t0007g0077
a0001c0001t0007g0078
a0001c0001t0007g0228
a0001c0001t0007g0229
a0001c0001t0007g0260
a0001c0001t0012g0050
a0001c0001t0012g0262
a0001c0001t0013g0281
a0001c0001t0014g0027
a0001c0001t0015g0162
a0001c0001t0015g0181
a0001c0001t0016g0043
a0001c0001t0020g0076
a0001c0001t0021g0057
a0001c0001t0022g0082
a0001c0001t0031g0117
a0001c0001t0032g0176
a0001c0001t0034g0186
a0001c0007t0023g0279
a0001c0008t0006g0218
a0001c0009t0001g0094
a0005c0005t0001g0213
a0005c0005t0011g0046
a0005c0005t0011g0211
a0005c0005t0011g0212
 178 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(175): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00438.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp2
HG00738.hp2
HG00741.hp1
HG01070.hp1
HG01081.hp1
HG01081.hp2
HG01109.hp1
HG01167.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01243.hp1
HG01255.hp1
HG01256.hp2
HG01257.hp2
HG01261.hp1
HG01261.hp2
HG01358.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp2
HG01884.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp2
HG02040.hp2
HG02056.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02083.hp1
HG02129.hp1
HG02148.hp2
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02273.hp1
HG02280.hp1
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02451.hp2
HG02486.hp2
HG02615.hp1
HG02630.hp1
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03491.hp2
HG03492.hp1
HG03540.hp1
HG03669.hp1
HG03688.hp1
HG03704.hp2
HG03710.hp1
HG03834.hp1
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG04115.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
NA18612.hp1
NA18747.hp2
NA18939.hp2
NA18940.hp2
NA18942.hp2
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp2
NA18949.hp2
NA18950.hp2
NA18952.hp2
NA18953.hp1
NA18954.hp1
NA18956.hp1
NA18959.hp2
NA18960.hp1
NA18967.hp1
NA18967.hp2
NA18968.hp2
NA18970.hp2
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18975.hp1
NA18978.hp1
NA18979.hp2
NA18986.hp2
NA18992.hp1
NA18993.hp2
NA18995.hp1
NA18995.hp2
NA18997.hp1
NA18997.hp2
NA18998.hp2
NA18999.hp1
NA19001.hp1
NA19004.hp2
NA19006.hp2
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19054.hp2
NA19055.hp2
NA19056.hp2
NA19057.hp2
NA19058.hp2
NA19060.hp2
NA19062.hp2
NA19064.hp2
NA19066.hp1
NA19074.hp1
NA19077.hp2
NA19081.hp1
NA19082.hp2
NA19083.hp2
NA19084.hp2
NA19086.hp1
NA19087.hp2
NA19088.hp1
NA19090.hp1
NA19090.hp2
NA20752.hp2
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.217-622A>G
c.217-622A>G
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 3/13 chr8 18070500
chr8:18070514 T
T
 C
C
 127 a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0009
others(124): Show 
a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0072
a0001c0001t0001g0102
a0001c0001t0001g0104
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0153
a0001c0001t0001g0158
a0001c0001t0001g0161
a0001c0001t0001g0167
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0187
a0001c0001t0001g0190
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0214
a0001c0001t0001g0226
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0001t0001g0256
a0001c0001t0001g0257
a0001c0001t0001g0259
a0001c0001t0001g0261
a0001c0001t0001g0278
a0001c0001t0001g0284
a0001c0001t0002g0042
a0001c0001t0002g0165
a0001c0001t0002g0166
a0001c0001t0002g0173
a0001c0001t0002g0188
a0001c0001t0002g0189
a0001c0001t0002g0191
a0001c0001t0002g0195
a0001c0001t0002g0200
a0001c0001t0002g0201
a0001c0001t0002g0216
a0001c0001t0002g0220
a0001c0001t0002g0235
a0001c0001t0002g0251
a0001c0001t0003g0159
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0029
a0001c0001t0004g0065
a0001c0001t0004g0066
a0001c0001t0004g0067
a0001c0001t0004g0068
a0001c0001t0004g0069
a0001c0001t0004g0070
a0001c0001t0004g0071
a0001c0001t0004g0079
a0001c0001t0004g0080
a0001c0001t0004g0081
a0001c0001t0004g0083
a0001c0001t0004g0084
a0001c0001t0004g0089
a0001c0001t0004g0090
a0001c0001t0006g0047
a0001c0001t0006g0154
a0001c0001t0006g0215
a0001c0001t0006g0217
a0001c0001t0006g0221
a0001c0001t0006g0222
a0001c0001t0006g0224
a0001c0001t0006g0225
a0001c0001t0006g0227
a0001c0001t0007g0058
a0001c0001t0007g0064
a0001c0001t0007g0073
a0001c0001t0007g0074
a0001c0001t0007g0075
a0001c0001t0007g0077
a0001c0001t0007g0078
a0001c0001t0007g0228
a0001c0001t0007g0229
a0001c0001t0007g0260
a0001c0001t0012g0050
a0001c0001t0012g0262
a0001c0001t0013g0281
a0001c0001t0014g0027
a0001c0001t0015g0162
a0001c0001t0015g0181
a0001c0001t0016g0043
a0001c0001t0020g0076
a0001c0001t0021g0057
a0001c0001t0022g0082
a0001c0001t0031g0117
a0001c0001t0032g0176
a0001c0001t0034g0186
a0001c0007t0023g0279
a0001c0008t0006g0218
a0001c0009t0001g0094
a0005c0005t0001g0213
a0005c0005t0011g0046
a0005c0005t0011g0211
a0005c0005t0011g0212
 178 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(175): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00438.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp2
HG00738.hp2
HG00741.hp1
HG01070.hp1
HG01081.hp1
HG01081.hp2
HG01109.hp1
HG01167.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01243.hp1
HG01255.hp1
HG01256.hp2
HG01257.hp2
HG01261.hp1
HG01261.hp2
HG01358.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp2
HG01884.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp2
HG02040.hp2
HG02056.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02083.hp1
HG02129.hp1
HG02148.hp2
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02273.hp1
HG02280.hp1
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02451.hp2
HG02486.hp2
HG02615.hp1
HG02630.hp1
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03491.hp2
HG03492.hp1
HG03540.hp1
HG03669.hp1
HG03688.hp1
HG03704.hp2
HG03710.hp1
HG03834.hp1
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG04115.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
NA18612.hp1
NA18747.hp2
NA18939.hp2
NA18940.hp2
NA18942.hp2
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp2
NA18949.hp2
NA18950.hp2
NA18952.hp2
NA18953.hp1
NA18954.hp1
NA18956.hp1
NA18959.hp2
NA18960.hp1
NA18967.hp1
NA18967.hp2
NA18968.hp2
NA18970.hp2
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18975.hp1
NA18978.hp1
NA18979.hp2
NA18986.hp2
NA18992.hp1
NA18993.hp2
NA18995.hp1
NA18995.hp2
NA18997.hp1
NA18997.hp2
NA18998.hp2
NA18999.hp1
NA19001.hp1
NA19004.hp2
NA19006.hp2
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19054.hp2
NA19055.hp2
NA19056.hp2
NA19057.hp2
NA19058.hp2
NA19060.hp2
NA19062.hp2
NA19064.hp2
NA19066.hp1
NA19074.hp1
NA19077.hp2
NA19081.hp1
NA19082.hp2
NA19083.hp2
NA19084.hp2
NA19086.hp1
NA19087.hp2
NA19088.hp1
NA19090.hp1
NA19090.hp2
NA20752.hp2
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.217-636A>G
c.217-636A>G
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 3/13 chr8 18070514
chr8:18070543 C
C
 A
A
 127 a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0009
others(124): Show 
a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0072
a0001c0001t0001g0102
a0001c0001t0001g0104
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0153
a0001c0001t0001g0158
a0001c0001t0001g0161
a0001c0001t0001g0167
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0187
a0001c0001t0001g0190
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0214
a0001c0001t0001g0226
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0001t0001g0256
a0001c0001t0001g0257
a0001c0001t0001g0259
a0001c0001t0001g0261
a0001c0001t0001g0278
a0001c0001t0001g0284
a0001c0001t0002g0042
a0001c0001t0002g0165
a0001c0001t0002g0166
a0001c0001t0002g0173
a0001c0001t0002g0188
a0001c0001t0002g0189
a0001c0001t0002g0191
a0001c0001t0002g0195
a0001c0001t0002g0200
a0001c0001t0002g0201
a0001c0001t0002g0216
a0001c0001t0002g0220
a0001c0001t0002g0235
a0001c0001t0002g0251
a0001c0001t0003g0159
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0029
a0001c0001t0004g0065
a0001c0001t0004g0066
a0001c0001t0004g0067
a0001c0001t0004g0068
a0001c0001t0004g0069
a0001c0001t0004g0070
a0001c0001t0004g0071
a0001c0001t0004g0079
a0001c0001t0004g0080
a0001c0001t0004g0081
a0001c0001t0004g0083
a0001c0001t0004g0084
a0001c0001t0004g0089
a0001c0001t0004g0090
a0001c0001t0006g0047
a0001c0001t0006g0154
a0001c0001t0006g0215
a0001c0001t0006g0217
a0001c0001t0006g0221
a0001c0001t0006g0222
a0001c0001t0006g0224
a0001c0001t0006g0225
a0001c0001t0006g0227
a0001c0001t0007g0058
a0001c0001t0007g0064
a0001c0001t0007g0073
a0001c0001t0007g0074
a0001c0001t0007g0075
a0001c0001t0007g0077
a0001c0001t0007g0078
a0001c0001t0007g0228
a0001c0001t0007g0229
a0001c0001t0007g0260
a0001c0001t0012g0050
a0001c0001t0012g0262
a0001c0001t0013g0281
a0001c0001t0014g0027
a0001c0001t0015g0162
a0001c0001t0015g0181
a0001c0001t0016g0043
a0001c0001t0020g0076
a0001c0001t0021g0057
a0001c0001t0022g0082
a0001c0001t0031g0117
a0001c0001t0032g0176
a0001c0001t0034g0186
a0001c0007t0023g0279
a0001c0008t0006g0218
a0001c0009t0001g0094
a0005c0005t0001g0213
a0005c0005t0011g0046
a0005c0005t0011g0211
a0005c0005t0011g0212
 178 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(175): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00438.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp2
HG00738.hp2
HG00741.hp1
HG01070.hp1
HG01081.hp1
HG01081.hp2
HG01109.hp1
HG01167.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01243.hp1
HG01255.hp1
HG01256.hp2
HG01257.hp2
HG01261.hp1
HG01261.hp2
HG01358.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp2
HG01884.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp2
HG02040.hp2
HG02056.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02083.hp1
HG02129.hp1
HG02148.hp2
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02273.hp1
HG02280.hp1
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02451.hp2
HG02486.hp2
HG02615.hp1
HG02630.hp1
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03491.hp2
HG03492.hp1
HG03540.hp1
HG03669.hp1
HG03688.hp1
HG03704.hp2
HG03710.hp1
HG03834.hp1
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG04115.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
NA18612.hp1
NA18747.hp2
NA18939.hp2
NA18940.hp2
NA18942.hp2
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp2
NA18949.hp2
NA18950.hp2
NA18952.hp2
NA18953.hp1
NA18954.hp1
NA18956.hp1
NA18959.hp2
NA18960.hp1
NA18967.hp1
NA18967.hp2
NA18968.hp2
NA18970.hp2
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18975.hp1
NA18978.hp1
NA18979.hp2
NA18986.hp2
NA18992.hp1
NA18993.hp2
NA18995.hp1
NA18995.hp2
NA18997.hp1
NA18997.hp2
NA18998.hp2
NA18999.hp1
NA19001.hp1
NA19004.hp2
NA19006.hp2
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19054.hp2
NA19055.hp2
NA19056.hp2
NA19057.hp2
NA19058.hp2
NA19060.hp2
NA19062.hp2
NA19064.hp2
NA19066.hp1
NA19074.hp1
NA19077.hp2
NA19081.hp1
NA19082.hp2
NA19083.hp2
NA19084.hp2
NA19086.hp1
NA19087.hp2
NA19088.hp1
NA19090.hp1
NA19090.hp2
NA20752.hp2
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.217-665G>T
c.217-665G>T
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 3/13 chr8 18070543
chr8:18070562 A
A
 G
G
 127 a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0009
others(124): Show 
a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0072
a0001c0001t0001g0102
a0001c0001t0001g0104
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0153
a0001c0001t0001g0158
a0001c0001t0001g0161
a0001c0001t0001g0167
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0187
a0001c0001t0001g0190
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0214
a0001c0001t0001g0226
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0001t0001g0256
a0001c0001t0001g0257
a0001c0001t0001g0259
a0001c0001t0001g0261
a0001c0001t0001g0278
a0001c0001t0001g0284
a0001c0001t0002g0042
a0001c0001t0002g0165
a0001c0001t0002g0166
a0001c0001t0002g0173
a0001c0001t0002g0188
a0001c0001t0002g0189
a0001c0001t0002g0191
a0001c0001t0002g0195
a0001c0001t0002g0200
a0001c0001t0002g0201
a0001c0001t0002g0216
a0001c0001t0002g0220
a0001c0001t0002g0235
a0001c0001t0002g0251
a0001c0001t0003g0159
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0029
a0001c0001t0004g0065
a0001c0001t0004g0066
a0001c0001t0004g0067
a0001c0001t0004g0068
a0001c0001t0004g0069
a0001c0001t0004g0070
a0001c0001t0004g0071
a0001c0001t0004g0079
a0001c0001t0004g0080
a0001c0001t0004g0081
a0001c0001t0004g0083
a0001c0001t0004g0084
a0001c0001t0004g0089
a0001c0001t0004g0090
a0001c0001t0006g0047
a0001c0001t0006g0154
a0001c0001t0006g0215
a0001c0001t0006g0217
a0001c0001t0006g0221
a0001c0001t0006g0222
a0001c0001t0006g0224
a0001c0001t0006g0225
a0001c0001t0006g0227
a0001c0001t0007g0058
a0001c0001t0007g0064
a0001c0001t0007g0073
a0001c0001t0007g0074
a0001c0001t0007g0075
a0001c0001t0007g0077
a0001c0001t0007g0078
a0001c0001t0007g0228
a0001c0001t0007g0229
a0001c0001t0007g0260
a0001c0001t0012g0050
a0001c0001t0012g0262
a0001c0001t0013g0281
a0001c0001t0014g0027
a0001c0001t0015g0162
a0001c0001t0015g0181
a0001c0001t0016g0043
a0001c0001t0020g0076
a0001c0001t0021g0057
a0001c0001t0022g0082
a0001c0001t0031g0117
a0001c0001t0032g0176
a0001c0001t0034g0186
a0001c0007t0023g0279
a0001c0008t0006g0218
a0001c0009t0001g0094
a0005c0005t0001g0213
a0005c0005t0011g0046
a0005c0005t0011g0211
a0005c0005t0011g0212
 178 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(175): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00438.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp2
HG00738.hp2
HG00741.hp1
HG01070.hp1
HG01081.hp1
HG01081.hp2
HG01109.hp1
HG01167.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01243.hp1
HG01255.hp1
HG01256.hp2
HG01257.hp2
HG01261.hp1
HG01261.hp2
HG01358.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp2
HG01884.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp2
HG02040.hp2
HG02056.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02083.hp1
HG02129.hp1
HG02148.hp2
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02273.hp1
HG02280.hp1
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02451.hp2
HG02486.hp2
HG02615.hp1
HG02630.hp1
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03491.hp2
HG03492.hp1
HG03540.hp1
HG03669.hp1
HG03688.hp1
HG03704.hp2
HG03710.hp1
HG03834.hp1
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG04115.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
NA18612.hp1
NA18747.hp2
NA18939.hp2
NA18940.hp2
NA18942.hp2
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp2
NA18949.hp2
NA18950.hp2
NA18952.hp2
NA18953.hp1
NA18954.hp1
NA18956.hp1
NA18959.hp2
NA18960.hp1
NA18967.hp1
NA18967.hp2
NA18968.hp2
NA18970.hp2
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18975.hp1
NA18978.hp1
NA18979.hp2
NA18986.hp2
NA18992.hp1
NA18993.hp2
NA18995.hp1
NA18995.hp2
NA18997.hp1
NA18997.hp2
NA18998.hp2
NA18999.hp1
NA19001.hp1
NA19004.hp2
NA19006.hp2
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19054.hp2
NA19055.hp2
NA19056.hp2
NA19057.hp2
NA19058.hp2
NA19060.hp2
NA19062.hp2
NA19064.hp2
NA19066.hp1
NA19074.hp1
NA19077.hp2
NA19081.hp1
NA19082.hp2
NA19083.hp2
NA19084.hp2
NA19086.hp1
NA19087.hp2
NA19088.hp1
NA19090.hp1
NA19090.hp2
NA20752.hp2
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.217-684T>C
c.217-684T>C
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 3/13 chr8 18070562
chr8:18070580 G
G
 A
A
 1 a0001c0001t0002g0216
a0001c0001t0002g0216
 1 HG03209.hp2
HG03209.hp2
 intron_variant MODIFIER c.217-702C>T
c.217-702C>T
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 3/13 chr8 18070580
chr8:18070585 G
G
 C
C
 1 a0001c0001t0002g0251
a0001c0001t0002g0251
 1 HG02027.hp2
HG02027.hp2
 intron_variant MODIFIER c.217-707C>G
c.217-707C>G
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 3/13 chr8 18070585
chr8:18070690 G
G
 C
C
 1 a0001c0001t0007g0229
a0001c0001t0007g0229
 1 HG02615.hp1
HG02615.hp1
 intron_variant MODIFIER c.216+610C>G
c.216+610C>G
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 3/13 chr8 18070690
chr8:18070722 G
G
 A
A
 1 a0002c0002t0002g0148
a0002c0002t0002g0148
 1 NA19056.hp1
NA19056.hp1
 intron_variant MODIFIER c.216+578C>T
c.216+578C>T
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 3/13 chr8 18070722
chr8:18070757 G
G
 A
A
 5 a0001c0001t0001g0020
a0001c0001t0001g0104
a0001c0001t0001g0158
others(2): Show 
a0001c0001t0001g0020
a0001c0001t0001g0104
a0001c0001t0001g0158
a0001c0001t0001g0193
a0001c0001t0001g0205
 7 HG00741.hp1
HG01433.hp2
HG01943.hp1
others(4): Show 
HG00741.hp1
HG01433.hp2
HG01943.hp1
HG01952.hp2
HG01978.hp2
HG02004.hp1
HG02148.hp2
 intron_variant MODIFIER c.216+543C>T
c.216+543C>T
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 3/13 chr8 18070757
chr8:18070762 G
G
 A
A
 1 a0001c0001t0004g0080
a0001c0001t0004g0080
 1 NA19054.hp2
NA19054.hp2
 intron_variant MODIFIER c.216+538C>T
c.216+538C>T
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 3/13 chr8 18070762
chr8:18070938 C
C
 A
A
 10 a0002c0002t0018g0270
a0002c0002t0025g0054
a0003c0003t0001g0051
others(7): Show 
a0002c0002t0018g0270
a0002c0002t0025g0054
a0003c0003t0001g0051
a0003c0003t0001g0269
a0003c0003t0009g0014
a0003c0003t0009g0062
a0003c0003t0009g0198
a0003c0003t0009g0199
a0003c0003t0009g0219
a0003c0003t0017g0272
 14 HG02109.hp2
HG02647.hp2
HG02683.hp2
others(11): Show 
HG02109.hp2
HG02647.hp2
HG02683.hp2
HG02723.hp1
HG02735.hp2
HG02818.hp1
HG02896.hp1
HG02897.hp2
HG03453.hp2
HG03540.hp2
HG03710.hp2
HG04228.hp1
NA19240.hp1
NA21309.hp2
 intron_variant MODIFIER c.216+362G>T
c.216+362G>T
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 3/13 chr8 18070938
chr8:18070938 C
C
 T
T
 1 a0001c0001t0001g0172
a0001c0001t0001g0172
 1 HG04184.hp1
HG04184.hp1
 intron_variant MODIFIER c.216+362G>A
c.216+362G>A
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 3/13 chr8 18070938
chr8:18071018 G
G
 C
C
 1 a0003c0003t0026g0268
a0003c0003t0026g0268
 1 HG02622.hp2
HG02622.hp2
 intron_variant MODIFIER c.216+282C>G
c.216+282C>G
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 3/13 chr8 18071018
chr8:18071117 A
A
 G
G
 178 a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0009
others(175): Show 
a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0072
a0001c0001t0001g0102
a0001c0001t0001g0104
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0153
a0001c0001t0001g0158
a0001c0001t0001g0161
a0001c0001t0001g0167
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0187
a0001c0001t0001g0190
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0214
a0001c0001t0001g0226
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0001t0001g0256
a0001c0001t0001g0257
a0001c0001t0001g0259
a0001c0001t0001g0261
a0001c0001t0001g0278
a0001c0001t0001g0284
a0001c0001t0002g0042
a0001c0001t0002g0165
a0001c0001t0002g0166
a0001c0001t0002g0173
a0001c0001t0002g0188
a0001c0001t0002g0189
a0001c0001t0002g0191
a0001c0001t0002g0195
a0001c0001t0002g0200
a0001c0001t0002g0201
a0001c0001t0002g0216
a0001c0001t0002g0220
a0001c0001t0002g0235
a0001c0001t0002g0251
a0001c0001t0003g0159
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0029
a0001c0001t0004g0065
a0001c0001t0004g0066
a0001c0001t0004g0067
a0001c0001t0004g0068
a0001c0001t0004g0069
a0001c0001t0004g0070
a0001c0001t0004g0071
a0001c0001t0004g0079
a0001c0001t0004g0080
a0001c0001t0004g0081
a0001c0001t0004g0083
a0001c0001t0004g0084
a0001c0001t0004g0089
a0001c0001t0004g0090
a0001c0001t0006g0047
a0001c0001t0006g0154
a0001c0001t0006g0215
a0001c0001t0006g0217
a0001c0001t0006g0221
a0001c0001t0006g0222
a0001c0001t0006g0224
a0001c0001t0006g0225
a0001c0001t0006g0227
a0001c0001t0007g0058
a0001c0001t0007g0064
a0001c0001t0007g0073
a0001c0001t0007g0074
a0001c0001t0007g0075
a0001c0001t0007g0077
a0001c0001t0007g0078
a0001c0001t0007g0228
a0001c0001t0007g0229
a0001c0001t0007g0260
a0001c0001t0012g0050
a0001c0001t0012g0262
a0001c0001t0013g0281
a0001c0001t0014g0027
a0001c0001t0015g0162
a0001c0001t0015g0181
a0001c0001t0016g0043
a0001c0001t0020g0076
a0001c0001t0021g0057
a0001c0001t0022g0082
a0001c0001t0031g0117
a0001c0001t0032g0176
a0001c0001t0034g0186
a0001c0007t0023g0279
a0001c0008t0006g0218
a0001c0009t0001g0094
a0002c0002t0001g0013
a0002c0002t0001g0032
a0002c0002t0001g0136
a0002c0002t0001g0150
a0002c0002t0002g0001
a0002c0002t0002g0008
a0002c0002t0002g0017
a0002c0002t0002g0018
a0002c0002t0002g0021
a0002c0002t0002g0028
a0002c0002t0002g0034
a0002c0002t0002g0035
a0002c0002t0002g0036
a0002c0002t0002g0037
a0002c0002t0002g0038
a0002c0002t0002g0039
a0002c0002t0002g0055
a0002c0002t0002g0092
a0002c0002t0002g0093
a0002c0002t0002g0099
a0002c0002t0002g0100
a0002c0002t0002g0120
a0002c0002t0002g0131
a0002c0002t0002g0132
a0002c0002t0002g0133
a0002c0002t0002g0135
a0002c0002t0002g0137
a0002c0002t0002g0138
a0002c0002t0002g0139
a0002c0002t0002g0140
a0002c0002t0002g0141
a0002c0002t0002g0142
a0002c0002t0002g0143
a0002c0002t0002g0144
a0002c0002t0002g0145
a0002c0002t0002g0146
a0002c0002t0002g0148
a0002c0002t0002g0149
a0002c0002t0002g0151
a0002c0002t0002g0152
a0002c0002t0002g0155
a0002c0002t0002g0156
a0002c0002t0002g0157
a0002c0002t0002g0196
a0002c0002t0002g0209
a0002c0002t0002g0258
a0002c0002t0002g0285
a0002c0002t0003g0118
a0002c0002t0006g0147
a0002c0002t0033g0053
a0002c0002t0035g0286
a0005c0005t0001g0213
a0005c0005t0011g0046
a0005c0005t0011g0211
a0005c0005t0011g0212
 266 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(263): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00438.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp2
HG02040.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02129.hp1
HG02129.hp2
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02148.hp2
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03098.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03239.hp1
HG03486.hp1
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03540.hp1
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03704.hp2
HG03710.hp1
HG03831.hp2
HG03834.hp1
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18612.hp1
NA18747.hp1
NA18747.hp2
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18942.hp1
NA18942.hp2
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp2
NA18949.hp2
NA18950.hp2
NA18952.hp2
NA18953.hp1
NA18954.hp1
NA18956.hp1
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18963.hp1
NA18965.hp1
NA18966.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18978.hp1
NA18979.hp2
NA18981.hp1
NA18982.hp2
NA18983.hp1
NA18984.hp2
NA18986.hp2
NA18992.hp1
NA18993.hp1
NA18993.hp2
NA18995.hp1
NA18995.hp2
NA18997.hp1
NA18997.hp2
NA18998.hp2
NA18999.hp1
NA19001.hp1
NA19004.hp2
NA19006.hp2
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19054.hp1
NA19054.hp2
NA19055.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp2
NA19058.hp1
NA19058.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp2
NA19063.hp1
NA19064.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp2
NA19068.hp2
NA19074.hp1
NA19076.hp2
NA19077.hp1
NA19077.hp2
NA19081.hp1
NA19082.hp2
NA19083.hp2
NA19084.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp2
NA19088.hp1
NA19090.hp1
NA19090.hp2
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.216+183T>C
c.216+183T>C
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 3/13 chr8 18071117
chr8:18071139 G
G
 A
A
 1 a0003c0003t0005g0056
a0003c0003t0005g0056
 1 HG02818.hp2
HG02818.hp2
 intron_variant MODIFIER c.216+161C>T
c.216+161C>T
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 3/13 chr8 18071139
chr8:18071163 T
T
 C
C
 10 a0002c0002t0018g0270
a0002c0002t0025g0054
a0003c0003t0001g0051
others(7): Show 
a0002c0002t0018g0270
a0002c0002t0025g0054
a0003c0003t0001g0051
a0003c0003t0001g0269
a0003c0003t0009g0014
a0003c0003t0009g0062
a0003c0003t0009g0198
a0003c0003t0009g0199
a0003c0003t0009g0219
a0003c0003t0017g0272
 14 HG02109.hp2
HG02647.hp2
HG02683.hp2
others(11): Show 
HG02109.hp2
HG02647.hp2
HG02683.hp2
HG02723.hp1
HG02735.hp2
HG02818.hp1
HG02896.hp1
HG02897.hp2
HG03453.hp2
HG03540.hp2
HG03710.hp2
HG04228.hp1
NA19240.hp1
NA21309.hp2
 intron_variant MODIFIER c.216+137A>G
c.216+137A>G
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 3/13 chr8 18071163
chr8:18071180 C
C
 G
G
 10 a0002c0002t0018g0270
a0002c0002t0025g0054
a0003c0003t0001g0051
others(7): Show 
a0002c0002t0018g0270
a0002c0002t0025g0054
a0003c0003t0001g0051
a0003c0003t0001g0269
a0003c0003t0009g0014
a0003c0003t0009g0062
a0003c0003t0009g0198
a0003c0003t0009g0199
a0003c0003t0009g0219
a0003c0003t0017g0272
 14 HG02109.hp2
HG02647.hp2
HG02683.hp2
others(11): Show 
HG02109.hp2
HG02647.hp2
HG02683.hp2
HG02723.hp1
HG02735.hp2
HG02818.hp1
HG02896.hp1
HG02897.hp2
HG03453.hp2
HG03540.hp2
HG03710.hp2
HG04228.hp1
NA19240.hp1
NA21309.hp2
 intron_variant MODIFIER c.216+120G>C
c.216+120G>C
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 3/13 chr8 18071180
chr8:18071202 G
G
 A
A
 51 a0002c0002t0001g0013
a0002c0002t0001g0032
a0002c0002t0001g0136
others(48): Show 
a0002c0002t0001g0013
a0002c0002t0001g0032
a0002c0002t0001g0136
a0002c0002t0001g0150
a0002c0002t0002g0001
a0002c0002t0002g0008
a0002c0002t0002g0017
a0002c0002t0002g0018
a0002c0002t0002g0021
a0002c0002t0002g0028
a0002c0002t0002g0034
a0002c0002t0002g0035
a0002c0002t0002g0036
a0002c0002t0002g0037
a0002c0002t0002g0038
a0002c0002t0002g0039
a0002c0002t0002g0055
a0002c0002t0002g0092
a0002c0002t0002g0093
a0002c0002t0002g0099
a0002c0002t0002g0100
a0002c0002t0002g0120
a0002c0002t0002g0131
a0002c0002t0002g0132
a0002c0002t0002g0133
a0002c0002t0002g0135
a0002c0002t0002g0137
a0002c0002t0002g0138
a0002c0002t0002g0139
a0002c0002t0002g0140
a0002c0002t0002g0141
a0002c0002t0002g0142
a0002c0002t0002g0143
a0002c0002t0002g0144
a0002c0002t0002g0145
a0002c0002t0002g0146
a0002c0002t0002g0148
a0002c0002t0002g0149
a0002c0002t0002g0151
a0002c0002t0002g0152
a0002c0002t0002g0155
a0002c0002t0002g0156
a0002c0002t0002g0157
a0002c0002t0002g0196
a0002c0002t0002g0209
a0002c0002t0002g0258
a0002c0002t0002g0285
a0002c0002t0003g0118
a0002c0002t0006g0147
a0002c0002t0033g0053
a0002c0002t0035g0286
 88 HG00140.hp2
HG00280.hp1
HG00323.hp1
others(85): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp1
HG00642.hp1
HG00738.hp1
HG00741.hp2
HG01070.hp2
HG01106.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01243.hp2
HG01255.hp2
HG01256.hp1
HG01257.hp1
HG01258.hp1
HG01258.hp2
HG01361.hp2
HG01516.hp2
HG01517.hp1
HG01978.hp1
HG02056.hp2
HG02071.hp1
HG02080.hp2
HG02129.hp2
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02273.hp2
HG02300.hp2
HG02486.hp1
HG02523.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp2
HG02615.hp2
HG02622.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03098.hp2
HG03239.hp1
HG03486.hp1
HG03486.hp2
HG03492.hp2
HG03688.hp2
HG03831.hp2
HG03942.hp2
HG04115.hp2
HG06807.hp2
NA18747.hp1
NA18940.hp1
NA18941.hp1
NA18942.hp1
NA18959.hp1
NA18963.hp1
NA18965.hp1
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18975.hp2
NA18977.hp1
NA18981.hp1
NA18982.hp2
NA18983.hp1
NA18984.hp2
NA18993.hp1
NA19054.hp1
NA19056.hp1
NA19058.hp1
NA19060.hp1
NA19063.hp1
NA19066.hp2
NA19067.hp2
NA19068.hp2
NA19076.hp2
NA19077.hp1
NA19086.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.216+98C>T
c.216+98C>T
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 3/13 chr8 18071202
chr8:18071211 C
C
 CA
CA
 61 a0002c0002t0002g0240
a0002c0002t0003g0004
a0002c0002t0003g0006
others(58): Show 
a0002c0002t0002g0240
a0002c0002t0003g0004
a0002c0002t0003g0006
a0002c0002t0003g0025
a0002c0002t0003g0031
a0002c0002t0003g0048
a0002c0002t0003g0049
a0002c0002t0003g0059
a0002c0002t0003g0060
a0002c0002t0003g0061
a0002c0002t0003g0091
a0002c0002t0003g0095
a0002c0002t0003g0096
a0002c0002t0003g0097
a0002c0002t0003g0098
a0002c0002t0003g0101
a0002c0002t0003g0103
a0002c0002t0003g0105
a0002c0002t0003g0106
a0002c0002t0003g0108
a0002c0002t0003g0109
a0002c0002t0003g0110
a0002c0002t0003g0111
a0002c0002t0003g0113
a0002c0002t0003g0115
a0002c0002t0003g0116
a0002c0002t0003g0134
a0002c0002t0003g0160
a0002c0002t0003g0210
a0002c0002t0003g0232
a0002c0002t0003g0233
a0002c0002t0003g0236
a0002c0002t0003g0237
a0002c0002t0003g0238
a0002c0002t0003g0239
a0002c0002t0003g0244
a0002c0002t0003g0245
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0248
a0002c0002t0003g0252
a0002c0002t0003g0253
a0002c0002t0003g0255
a0002c0002t0003g0266
a0002c0002t0003g0267
a0002c0002t0003g0273
a0002c0002t0003g0274
a0002c0002t0003g0275
a0002c0002t0004g0112
a0002c0002t0005g0241
a0002c0002t0019g0243
a0002c0002t0027g0242
a0002c0002t0028g0249
a0002c0002t0029g0107
a0002c0002t0030g0254
a0003c0003t0005g0056
a0004c0004t0003g0007
a0004c0004t0003g0114
a0006c0006t0003g0023
a0006c0006t0003g0130
a0006c0006t0003g0234
 85 HG00423.hp2
HG00438.hp1
HG00558.hp1
others(82): Show 
HG00423.hp2
HG00438.hp1
HG00558.hp1
HG00597.hp1
HG00621.hp1
HG00621.hp2
HG01106.hp2
HG01358.hp1
HG01943.hp2
HG01975.hp2
HG02040.hp1
HG02083.hp2
HG02145.hp2
HG02148.hp1
HG02165.hp2
HG02572.hp2
HG02602.hp1
HG02717.hp2
HG02738.hp2
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG03098.hp1
HG03130.hp2
HG03139.hp2
HG03225.hp2
HG03239.hp2
HG03471.hp1
HG03491.hp1
HG03579.hp1
HG03669.hp2
HG03704.hp1
HG03831.hp1
HG03834.hp2
HG04204.hp2
NA18522.hp2
NA18939.hp1
NA18941.hp2
NA18943.hp1
NA18944.hp1
NA18947.hp1
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18950.hp1
NA18952.hp1
NA18953.hp2
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp2
NA18960.hp2
NA18962.hp2
NA18965.hp2
NA18966.hp1
NA18977.hp2
NA18978.hp2
NA18979.hp1
NA18981.hp2
NA18984.hp1
NA18986.hp1
NA18988.hp1
NA18991.hp1
NA18991.hp2
NA18992.hp2
NA18998.hp1
NA18999.hp2
NA19001.hp2
NA19004.hp1
NA19007.hp2
NA19010.hp1
NA19011.hp1
NA19055.hp1
NA19057.hp1
NA19064.hp1
NA19067.hp1
NA19068.hp1
NA19081.hp2
NA19082.hp1
NA19084.hp1
NA19087.hp1
NA19088.hp2
NA20129.hp2
NA20752.hp1
NA20905.hp2
 intron_variant MODIFIER c.216+88dupT
c.216+88dupT
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 3/13 chr8 18071211
chr8:18071227 C
C
 A
A
 4 a0003c0003t0005g0024
a0003c0003t0005g0263
a0003c0003t0005g0264
others(1): Show 
a0003c0003t0005g0024
a0003c0003t0005g0263
a0003c0003t0005g0264
a0003c0003t0005g0265
 6 HG02258.hp1
HG02559.hp1
HG02647.hp1
others(3): Show 
HG02258.hp1
HG02559.hp1
HG02647.hp1
HG03041.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.216+73G>T
c.216+73G>T
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 3/13 chr8 18071227
chr8:18071244 G
G
 GAAATA
GAAATA
 62 a0002c0002t0001g0013
a0002c0002t0001g0032
a0002c0002t0001g0136
others(59): Show 
a0002c0002t0001g0013
a0002c0002t0001g0032
a0002c0002t0001g0136
a0002c0002t0001g0150
a0002c0002t0002g0001
a0002c0002t0002g0008
a0002c0002t0002g0017
a0002c0002t0002g0018
a0002c0002t0002g0021
a0002c0002t0002g0028
a0002c0002t0002g0034
a0002c0002t0002g0035
a0002c0002t0002g0036
a0002c0002t0002g0037
a0002c0002t0002g0038
a0002c0002t0002g0039
a0002c0002t0002g0055
a0002c0002t0002g0092
a0002c0002t0002g0093
a0002c0002t0002g0099
a0002c0002t0002g0100
a0002c0002t0002g0120
a0002c0002t0002g0131
a0002c0002t0002g0132
a0002c0002t0002g0133
a0002c0002t0002g0135
a0002c0002t0002g0137
a0002c0002t0002g0138
a0002c0002t0002g0139
a0002c0002t0002g0140
a0002c0002t0002g0141
a0002c0002t0002g0142
a0002c0002t0002g0143
a0002c0002t0002g0144
a0002c0002t0002g0145
a0002c0002t0002g0146
a0002c0002t0002g0148
a0002c0002t0002g0149
a0002c0002t0002g0151
a0002c0002t0002g0152
a0002c0002t0002g0155
a0002c0002t0002g0156
a0002c0002t0002g0157
a0002c0002t0002g0196
a0002c0002t0002g0209
a0002c0002t0002g0258
a0002c0002t0002g0285
a0002c0002t0003g0118
a0002c0002t0006g0147
a0002c0002t0018g0270
a0002c0002t0025g0054
a0002c0002t0033g0053
a0002c0002t0035g0286
a0003c0003t0001g0051
a0003c0003t0001g0269
a0003c0003t0009g0014
a0003c0003t0009g0062
a0003c0003t0009g0198
a0003c0003t0009g0199
a0003c0003t0009g0219
a0003c0003t0013g0271
a0003c0003t0017g0272
 103 HG00140.hp2
HG00280.hp1
HG00323.hp1
others(100): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp1
HG00642.hp1
HG00738.hp1
HG00741.hp2
HG01070.hp2
HG01106.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01243.hp2
HG01255.hp2
HG01256.hp1
HG01257.hp1
HG01258.hp1
HG01258.hp2
HG01361.hp2
HG01516.hp2
HG01517.hp1
HG01978.hp1
HG02056.hp2
HG02071.hp1
HG02080.hp2
HG02109.hp2
HG02129.hp2
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02273.hp2
HG02300.hp2
HG02451.hp1
HG02486.hp1
HG02523.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp2
HG02615.hp2
HG02622.hp1
HG02647.hp2
HG02683.hp2
HG02723.hp1
HG02735.hp2
HG02818.hp1
HG02896.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03098.hp2
HG03239.hp1
HG03453.hp2
HG03486.hp1
HG03486.hp2
HG03492.hp2
HG03540.hp2
HG03688.hp2
HG03710.hp2
HG03831.hp2
HG03942.hp2
HG04115.hp2
HG04228.hp1
HG06807.hp2
NA18747.hp1
NA18940.hp1
NA18941.hp1
NA18942.hp1
NA18959.hp1
NA18963.hp1
NA18965.hp1
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18975.hp2
NA18977.hp1
NA18981.hp1
NA18982.hp2
NA18983.hp1
NA18984.hp2
NA18993.hp1
NA19054.hp1
NA19056.hp1
NA19058.hp1
NA19060.hp1
NA19063.hp1
NA19066.hp2
NA19067.hp2
NA19068.hp2
NA19076.hp2
NA19077.hp1
NA19086.hp2
NA19240.hp1
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.216+51_216+55dupTA
others(3): Show 
c.216+51_216+55dupTATTT
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 3/13 chr8 18071244
chr8:18071253 T
T
 TATA
TATA
 127 a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0009
others(124): Show 
a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0072
a0001c0001t0001g0102
a0001c0001t0001g0104
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0153
a0001c0001t0001g0158
a0001c0001t0001g0161
a0001c0001t0001g0167
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0187
a0001c0001t0001g0190
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0214
a0001c0001t0001g0226
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0001t0001g0256
a0001c0001t0001g0257
a0001c0001t0001g0259
a0001c0001t0001g0261
a0001c0001t0001g0278
a0001c0001t0001g0284
a0001c0001t0002g0042
a0001c0001t0002g0165
a0001c0001t0002g0166
a0001c0001t0002g0173
a0001c0001t0002g0188
a0001c0001t0002g0189
a0001c0001t0002g0191
a0001c0001t0002g0195
a0001c0001t0002g0200
a0001c0001t0002g0201
a0001c0001t0002g0216
a0001c0001t0002g0220
a0001c0001t0002g0235
a0001c0001t0002g0251
a0001c0001t0003g0159
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0029
a0001c0001t0004g0065
a0001c0001t0004g0066
a0001c0001t0004g0067
a0001c0001t0004g0068
a0001c0001t0004g0069
a0001c0001t0004g0070
a0001c0001t0004g0071
a0001c0001t0004g0079
a0001c0001t0004g0080
a0001c0001t0004g0081
a0001c0001t0004g0083
a0001c0001t0004g0084
a0001c0001t0004g0089
a0001c0001t0004g0090
a0001c0001t0006g0047
a0001c0001t0006g0154
a0001c0001t0006g0215
a0001c0001t0006g0217
a0001c0001t0006g0221
a0001c0001t0006g0222
a0001c0001t0006g0224
a0001c0001t0006g0225
a0001c0001t0006g0227
a0001c0001t0007g0058
a0001c0001t0007g0064
a0001c0001t0007g0073
a0001c0001t0007g0074
a0001c0001t0007g0075
a0001c0001t0007g0077
a0001c0001t0007g0078
a0001c0001t0007g0228
a0001c0001t0007g0229
a0001c0001t0007g0260
a0001c0001t0012g0050
a0001c0001t0012g0262
a0001c0001t0013g0281
a0001c0001t0014g0027
a0001c0001t0015g0162
a0001c0001t0015g0181
a0001c0001t0016g0043
a0001c0001t0020g0076
a0001c0001t0021g0057
a0001c0001t0022g0082
a0001c0001t0031g0117
a0001c0001t0032g0176
a0001c0001t0034g0186
a0001c0007t0023g0279
a0001c0008t0006g0218
a0001c0009t0001g0094
a0005c0005t0001g0213
a0005c0005t0011g0046
a0005c0005t0011g0211
a0005c0005t0011g0212
 178 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(175): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00438.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp2
HG00738.hp2
HG00741.hp1
HG01070.hp1
HG01081.hp1
HG01081.hp2
HG01109.hp1
HG01167.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01243.hp1
HG01255.hp1
HG01256.hp2
HG01257.hp2
HG01261.hp1
HG01261.hp2
HG01358.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp2
HG01884.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp2
HG02040.hp2
HG02056.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02083.hp1
HG02129.hp1
HG02148.hp2
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02273.hp1
HG02280.hp1
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02451.hp2
HG02486.hp2
HG02615.hp1
HG02630.hp1
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03491.hp2
HG03492.hp1
HG03540.hp1
HG03669.hp1
HG03688.hp1
HG03704.hp2
HG03710.hp1
HG03834.hp1
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG04115.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
NA18612.hp1
NA18747.hp2
NA18939.hp2
NA18940.hp2
NA18942.hp2
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp2
NA18949.hp2
NA18950.hp2
NA18952.hp2
NA18953.hp1
NA18954.hp1
NA18956.hp1
NA18959.hp2
NA18960.hp1
NA18967.hp1
NA18967.hp2
NA18968.hp2
NA18970.hp2
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18975.hp1
NA18978.hp1
NA18979.hp2
NA18986.hp2
NA18992.hp1
NA18993.hp2
NA18995.hp1
NA18995.hp2
NA18997.hp1
NA18997.hp2
NA18998.hp2
NA18999.hp1
NA19001.hp1
NA19004.hp2
NA19006.hp2
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19054.hp2
NA19055.hp2
NA19056.hp2
NA19057.hp2
NA19058.hp2
NA19060.hp2
NA19062.hp2
NA19064.hp2
NA19066.hp1
NA19074.hp1
NA19077.hp2
NA19081.hp1
NA19082.hp2
NA19083.hp2
NA19084.hp2
NA19086.hp1
NA19087.hp2
NA19088.hp1
NA19090.hp1
NA19090.hp2
NA20752.hp2
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.216+46_216+47insTA
others(1): Show 
c.216+46_216+47insTAT
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 3/13 chr8 18071253
chr8:18071411 T
T
 C
C
 127 a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0009
others(124): Show 
a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0072
a0001c0001t0001g0102
a0001c0001t0001g0104
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0153
a0001c0001t0001g0158
a0001c0001t0001g0161
a0001c0001t0001g0167
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0187
a0001c0001t0001g0190
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0214
a0001c0001t0001g0226
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0001t0001g0256
a0001c0001t0001g0257
a0001c0001t0001g0259
a0001c0001t0001g0261
a0001c0001t0001g0278
a0001c0001t0001g0284
a0001c0001t0002g0042
a0001c0001t0002g0165
a0001c0001t0002g0166
a0001c0001t0002g0173
a0001c0001t0002g0188
a0001c0001t0002g0189
a0001c0001t0002g0191
a0001c0001t0002g0195
a0001c0001t0002g0200
a0001c0001t0002g0201
a0001c0001t0002g0216
a0001c0001t0002g0220
a0001c0001t0002g0235
a0001c0001t0002g0251
a0001c0001t0003g0159
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0029
a0001c0001t0004g0065
a0001c0001t0004g0066
a0001c0001t0004g0067
a0001c0001t0004g0068
a0001c0001t0004g0069
a0001c0001t0004g0070
a0001c0001t0004g0071
a0001c0001t0004g0079
a0001c0001t0004g0080
a0001c0001t0004g0081
a0001c0001t0004g0083
a0001c0001t0004g0084
a0001c0001t0004g0089
a0001c0001t0004g0090
a0001c0001t0006g0047
a0001c0001t0006g0154
a0001c0001t0006g0215
a0001c0001t0006g0217
a0001c0001t0006g0221
a0001c0001t0006g0222
a0001c0001t0006g0224
a0001c0001t0006g0225
a0001c0001t0006g0227
a0001c0001t0007g0058
a0001c0001t0007g0064
a0001c0001t0007g0073
a0001c0001t0007g0074
a0001c0001t0007g0075
a0001c0001t0007g0077
a0001c0001t0007g0078
a0001c0001t0007g0228
a0001c0001t0007g0229
a0001c0001t0007g0260
a0001c0001t0012g0050
a0001c0001t0012g0262
a0001c0001t0013g0281
a0001c0001t0014g0027
a0001c0001t0015g0162
a0001c0001t0015g0181
a0001c0001t0016g0043
a0001c0001t0020g0076
a0001c0001t0021g0057
a0001c0001t0022g0082
a0001c0001t0031g0117
a0001c0001t0032g0176
a0001c0001t0034g0186
a0001c0007t0023g0279
a0001c0008t0006g0218
a0001c0009t0001g0094
a0005c0005t0001g0213
a0005c0005t0011g0046
a0005c0005t0011g0211
a0005c0005t0011g0212
 178 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(175): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00438.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp2
HG00738.hp2
HG00741.hp1
HG01070.hp1
HG01081.hp1
HG01081.hp2
HG01109.hp1
HG01167.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01243.hp1
HG01255.hp1
HG01256.hp2
HG01257.hp2
HG01261.hp1
HG01261.hp2
HG01358.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp2
HG01884.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp2
HG02040.hp2
HG02056.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02083.hp1
HG02129.hp1
HG02148.hp2
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02273.hp1
HG02280.hp1
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02451.hp2
HG02486.hp2
HG02615.hp1
HG02630.hp1
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03491.hp2
HG03492.hp1
HG03540.hp1
HG03669.hp1
HG03688.hp1
HG03704.hp2
HG03710.hp1
HG03834.hp1
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG04115.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
NA18612.hp1
NA18747.hp2
NA18939.hp2
NA18940.hp2
NA18942.hp2
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp2
NA18949.hp2
NA18950.hp2
NA18952.hp2
NA18953.hp1
NA18954.hp1
NA18956.hp1
NA18959.hp2
NA18960.hp1
NA18967.hp1
NA18967.hp2
NA18968.hp2
NA18970.hp2
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18975.hp1
NA18978.hp1
NA18979.hp2
NA18986.hp2
NA18992.hp1
NA18993.hp2
NA18995.hp1
NA18995.hp2
NA18997.hp1
NA18997.hp2
NA18998.hp2
NA18999.hp1
NA19001.hp1
NA19004.hp2
NA19006.hp2
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19054.hp2
NA19055.hp2
NA19056.hp2
NA19057.hp2
NA19058.hp2
NA19060.hp2
NA19062.hp2
NA19064.hp2
NA19066.hp1
NA19074.hp1
NA19077.hp2
NA19081.hp1
NA19082.hp2
NA19083.hp2
NA19084.hp2
NA19086.hp1
NA19087.hp2
NA19088.hp1
NA19090.hp1
NA19090.hp2
NA20752.hp2
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.126-21A>G
c.126-21A>G
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 2/13 chr8 18071411
chr8:18071490 G
G
 A
A
 126 a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0009
others(123): Show 
a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0072
a0001c0001t0001g0102
a0001c0001t0001g0104
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0153
a0001c0001t0001g0158
a0001c0001t0001g0161
a0001c0001t0001g0167
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0187
a0001c0001t0001g0190
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0214
a0001c0001t0001g0226
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0001t0001g0256
a0001c0001t0001g0257
a0001c0001t0001g0259
a0001c0001t0001g0261
a0001c0001t0001g0278
a0001c0001t0001g0284
a0001c0001t0002g0042
a0001c0001t0002g0165
a0001c0001t0002g0166
a0001c0001t0002g0173
a0001c0001t0002g0188
a0001c0001t0002g0189
a0001c0001t0002g0191
a0001c0001t0002g0195
a0001c0001t0002g0200
a0001c0001t0002g0201
a0001c0001t0002g0216
a0001c0001t0002g0220
a0001c0001t0002g0235
a0001c0001t0003g0159
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0029
a0001c0001t0004g0065
a0001c0001t0004g0066
a0001c0001t0004g0067
a0001c0001t0004g0068
a0001c0001t0004g0069
a0001c0001t0004g0070
a0001c0001t0004g0071
a0001c0001t0004g0079
a0001c0001t0004g0080
a0001c0001t0004g0081
a0001c0001t0004g0083
a0001c0001t0004g0084
a0001c0001t0004g0089
a0001c0001t0004g0090
a0001c0001t0006g0047
a0001c0001t0006g0154
a0001c0001t0006g0215
a0001c0001t0006g0217
a0001c0001t0006g0221
a0001c0001t0006g0222
a0001c0001t0006g0224
a0001c0001t0006g0225
a0001c0001t0006g0227
a0001c0001t0007g0058
a0001c0001t0007g0064
a0001c0001t0007g0073
a0001c0001t0007g0074
a0001c0001t0007g0075
a0001c0001t0007g0077
a0001c0001t0007g0078
a0001c0001t0007g0228
a0001c0001t0007g0229
a0001c0001t0007g0260
a0001c0001t0012g0050
a0001c0001t0012g0262
a0001c0001t0013g0281
a0001c0001t0014g0027
a0001c0001t0015g0162
a0001c0001t0015g0181
a0001c0001t0016g0043
a0001c0001t0020g0076
a0001c0001t0021g0057
a0001c0001t0022g0082
a0001c0001t0031g0117
a0001c0001t0032g0176
a0001c0001t0034g0186
a0001c0007t0023g0279
a0001c0008t0006g0218
a0001c0009t0001g0094
a0005c0005t0001g0213
a0005c0005t0011g0046
a0005c0005t0011g0211
a0005c0005t0011g0212
 177 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(174): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00438.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp2
HG00738.hp2
HG00741.hp1
HG01070.hp1
HG01081.hp1
HG01081.hp2
HG01109.hp1
HG01167.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01243.hp1
HG01255.hp1
HG01256.hp2
HG01257.hp2
HG01261.hp1
HG01261.hp2
HG01358.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp2
HG01884.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp2
HG02056.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02083.hp1
HG02129.hp1
HG02148.hp2
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02273.hp1
HG02280.hp1
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02451.hp2
HG02486.hp2
HG02615.hp1
HG02630.hp1
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03491.hp2
HG03492.hp1
HG03540.hp1
HG03669.hp1
HG03688.hp1
HG03704.hp2
HG03710.hp1
HG03834.hp1
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG04115.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
NA18612.hp1
NA18747.hp2
NA18939.hp2
NA18940.hp2
NA18942.hp2
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp2
NA18949.hp2
NA18950.hp2
NA18952.hp2
NA18953.hp1
NA18954.hp1
NA18956.hp1
NA18959.hp2
NA18960.hp1
NA18967.hp1
NA18967.hp2
NA18968.hp2
NA18970.hp2
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18975.hp1
NA18978.hp1
NA18979.hp2
NA18986.hp2
NA18992.hp1
NA18993.hp2
NA18995.hp1
NA18995.hp2
NA18997.hp1
NA18997.hp2
NA18998.hp2
NA18999.hp1
NA19001.hp1
NA19004.hp2
NA19006.hp2
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19054.hp2
NA19055.hp2
NA19056.hp2
NA19057.hp2
NA19058.hp2
NA19060.hp2
NA19062.hp2
NA19064.hp2
NA19066.hp1
NA19074.hp1
NA19077.hp2
NA19081.hp1
NA19082.hp2
NA19083.hp2
NA19084.hp2
NA19086.hp1
NA19087.hp2
NA19088.hp1
NA19090.hp1
NA19090.hp2
NA20752.hp2
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.126-100C>T
c.126-100C>T
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 2/13 chr8 18071490
chr8:18071567 C
C
 G
G
 3 a0003c0003t0001g0051
a0003c0003t0001g0269
a0003c0003t0017g0272
a0003c0003t0001g0051
a0003c0003t0001g0269
a0003c0003t0017g0272
 4 HG02683.hp2
HG02735.hp2
HG03710.hp2
others(1): Show 
HG02683.hp2
HG02735.hp2
HG03710.hp2
HG04228.hp1
 intron_variant MODIFIER c.126-177G>C
c.126-177G>C
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 2/13 chr8 18071567
chr8:18071599 T
T
 G
G
 1 a0001c0001t0001g0171
a0001c0001t0001g0171
 1 HG01993.hp1
HG01993.hp1
 intron_variant MODIFIER c.126-209A>C
c.126-209A>C
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 2/13 chr8 18071599
chr8:18071605 G
G
 T
T
 87 a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0009
others(84): Show 
a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0102
a0001c0001t0001g0104
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0153
a0001c0001t0001g0158
a0001c0001t0001g0161
a0001c0001t0001g0167
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0187
a0001c0001t0001g0190
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0214
a0001c0001t0001g0226
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0001t0001g0256
a0001c0001t0001g0257
a0001c0001t0001g0259
a0001c0001t0001g0261
a0001c0001t0001g0278
a0001c0001t0001g0284
a0001c0001t0002g0042
a0001c0001t0002g0165
a0001c0001t0002g0166
a0001c0001t0002g0173
a0001c0001t0002g0188
a0001c0001t0002g0189
a0001c0001t0002g0191
a0001c0001t0002g0195
a0001c0001t0002g0201
a0001c0001t0002g0216
a0001c0001t0002g0220
a0001c0001t0003g0159
a0001c0001t0006g0047
a0001c0001t0006g0154
a0001c0001t0006g0215
a0001c0001t0006g0217
a0001c0001t0006g0221
a0001c0001t0006g0222
a0001c0001t0006g0224
a0001c0001t0006g0225
a0001c0001t0006g0227
a0001c0001t0012g0050
a0001c0001t0012g0262
a0001c0001t0014g0027
a0001c0001t0015g0162
a0001c0001t0015g0181
a0001c0001t0016g0043
a0001c0001t0031g0117
a0001c0001t0032g0176
a0001c0001t0034g0186
a0001c0008t0006g0218
a0001c0009t0001g0094
 130 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(127): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp2
HG00423.hp1
HG00597.hp2
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp2
HG00738.hp2
HG00741.hp1
HG01070.hp1
HG01081.hp1
HG01081.hp2
HG01109.hp1
HG01168.hp2
HG01169.hp2
HG01243.hp1
HG01255.hp1
HG01256.hp2
HG01261.hp2
HG01358.hp2
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01952.hp2
HG01975.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp2
HG02056.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02129.hp1
HG02148.hp2
HG02165.hp1
HG02280.hp1
HG02451.hp2
HG02486.hp2
HG02683.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG03017.hp2
HG03209.hp2
HG03491.hp2
HG03492.hp1
HG03669.hp1
HG03688.hp1
HG03704.hp2
HG03710.hp1
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG04184.hp1
HG04184.hp2
NA18747.hp2
NA18939.hp2
NA18940.hp2
NA18942.hp2
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18947.hp2
NA18950.hp2
NA18952.hp2
NA18953.hp1
NA18954.hp1
NA18956.hp1
NA18959.hp2
NA18960.hp1
NA18967.hp1
NA18968.hp2
NA18970.hp2
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18975.hp1
NA18978.hp1
NA18979.hp2
NA18986.hp2
NA18992.hp1
NA18993.hp2
NA18995.hp2
NA18997.hp1
NA18997.hp2
NA18998.hp2
NA19001.hp1
NA19006.hp2
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19055.hp2
NA19056.hp2
NA19057.hp2
NA19058.hp2
NA19060.hp2
NA19062.hp2
NA19064.hp2
NA19066.hp1
NA19074.hp1
NA19077.hp2
NA19081.hp1
NA19083.hp2
NA19084.hp2
NA19087.hp2
NA19088.hp1
NA19090.hp1
NA20752.hp2
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.126-215C>A
c.126-215C>A
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 2/13 chr8 18071605
chr8:18071647 A
A
 T
T
 1 a0003c0003t0005g0263
a0003c0003t0005g0263
 1 HG03041.hp1
HG03041.hp1
 intron_variant MODIFIER c.126-257T>A
c.126-257T>A
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 2/13 chr8 18071647
chr8:18071688 A
A
 T
T
 3 a0002c0002t0003g0031
a0002c0002t0003g0095
a0002c0002t0003g0096
a0002c0002t0003g0031
a0002c0002t0003g0095
a0002c0002t0003g0096
 4 HG01358.hp1
HG01943.hp2
NA18947.hp1
others(1): Show 
HG01358.hp1
HG01943.hp2
NA18947.hp1
NA18952.hp1
 intron_variant MODIFIER c.126-298T>A
c.126-298T>A
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 2/13 chr8 18071688
chr8:18071689 C
C
 T
T
 3 a0001c0001t0001g0009
a0001c0001t0001g0169
a0001c0001t0001g0171
a0001c0001t0001g0009
a0001c0001t0001g0169
a0001c0001t0001g0171
 7 HG01928.hp1
HG01981.hp1
HG01993.hp1
others(4): Show 
HG01928.hp1
HG01981.hp1
HG01993.hp1
NA18942.hp2
NA18997.hp1
NA19058.hp2
NA19088.hp1
 intron_variant MODIFIER c.126-299G>A
c.126-299G>A
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 2/13 chr8 18071689
chr8:18071699 C
C
 G
G
 1 a0002c0002t0003g0160
a0002c0002t0003g0160
 1 HG03834.hp2
HG03834.hp2
 intron_variant MODIFIER c.126-309G>C
c.126-309G>C
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 2/13 chr8 18071699
chr8:18071704 A
A
 AT
AT
 112 a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0009
others(109): Show 
a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0072
a0001c0001t0001g0102
a0001c0001t0001g0104
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0153
a0001c0001t0001g0158
a0001c0001t0001g0161
a0001c0001t0001g0167
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0187
a0001c0001t0001g0190
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0197
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0214
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0001t0001g0256
a0001c0001t0001g0257
a0001c0001t0001g0259
a0001c0001t0001g0261
a0001c0001t0001g0278
a0001c0001t0001g0284
a0001c0001t0002g0042
a0001c0001t0002g0165
a0001c0001t0002g0166
a0001c0001t0002g0173
a0001c0001t0002g0188
a0001c0001t0002g0189
a0001c0001t0002g0191
a0001c0001t0002g0195
a0001c0001t0002g0200
a0001c0001t0002g0201
a0001c0001t0002g0216
a0001c0001t0002g0220
a0001c0001t0002g0235
a0001c0001t0003g0159
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0029
a0001c0001t0004g0065
a0001c0001t0004g0066
a0001c0001t0004g0067
a0001c0001t0004g0068
a0001c0001t0004g0069
a0001c0001t0004g0070
a0001c0001t0004g0071
a0001c0001t0004g0079
a0001c0001t0004g0080
a0001c0001t0004g0081
a0001c0001t0004g0083
a0001c0001t0004g0084
a0001c0001t0004g0089
a0001c0001t0004g0090
a0001c0001t0007g0058
a0001c0001t0007g0064
a0001c0001t0007g0073
a0001c0001t0007g0074
a0001c0001t0007g0075
a0001c0001t0007g0077
a0001c0001t0007g0078
a0001c0001t0007g0228
a0001c0001t0007g0229
a0001c0001t0007g0260
a0001c0001t0012g0050
a0001c0001t0012g0262
a0001c0001t0014g0027
a0001c0001t0015g0162
a0001c0001t0015g0181
a0001c0001t0020g0076
a0001c0001t0021g0057
a0001c0001t0022g0082
a0001c0001t0031g0117
a0001c0001t0032g0176
a0001c0001t0034g0186
a0001c0007t0023g0279
a0001c0009t0001g0094
a0005c0005t0001g0213
a0005c0005t0011g0046
a0005c0005t0011g0211
a0005c0005t0011g0212
 161 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(158): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00438.hp2
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp2
HG00738.hp2
HG00741.hp1
HG01070.hp1
HG01081.hp1
HG01081.hp2
HG01109.hp1
HG01167.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01243.hp1
HG01255.hp1
HG01256.hp2
HG01257.hp2
HG01261.hp1
HG01261.hp2
HG01358.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp2
HG01884.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp2
HG02056.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02083.hp1
HG02129.hp1
HG02148.hp2
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02273.hp1
HG02280.hp1
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02451.hp2
HG02486.hp2
HG02615.hp1
HG02630.hp1
HG02698.hp1
HG02698.hp2
HG02723.hp2
HG02738.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03491.hp2
HG03492.hp1
HG03540.hp1
HG03669.hp1
HG03688.hp1
HG03704.hp2
HG03710.hp1
HG03834.hp1
HG03927.hp2
HG03942.hp1
HG04115.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
NA18612.hp1
NA18747.hp2
NA18942.hp2
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp2
NA18949.hp2
NA18950.hp2
NA18952.hp2
NA18953.hp1
NA18954.hp1
NA18956.hp1
NA18959.hp2
NA18960.hp1
NA18967.hp1
NA18967.hp2
NA18968.hp2
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18978.hp1
NA18992.hp1
NA18993.hp2
NA18995.hp1
NA18997.hp1
NA18997.hp2
NA18998.hp2
NA18999.hp1
NA19001.hp1
NA19004.hp2
NA19006.hp2
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19054.hp2
NA19055.hp2
NA19056.hp2
NA19057.hp2
NA19058.hp2
NA19066.hp1
NA19077.hp2
NA19081.hp1
NA19082.hp2
NA19083.hp2
NA19084.hp2
NA19086.hp1
NA19087.hp2
NA19088.hp1
NA19090.hp1
NA19090.hp2
NA20752.hp2
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.126-315dupA
c.126-315dupA
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 2/13 chr8 18071704
chr8:18071727 T
T
 C
C
 7 a0001c0001t0001g0226
a0001c0001t0006g0047
a0001c0001t0006g0154
others(4): Show 
a0001c0001t0001g0226
a0001c0001t0006g0047
a0001c0001t0006g0154
a0001c0001t0006g0215
a0001c0001t0006g0224
a0001c0001t0006g0225
a0001c0001t0006g0227
 8 HG00597.hp2
NA18939.hp2
NA18940.hp2
others(5): Show 
HG00597.hp2
NA18939.hp2
NA18940.hp2
NA18970.hp2
NA18979.hp2
NA18986.hp2
NA18995.hp2
NA19064.hp2
 intron_variant MODIFIER c.126-337A>G
c.126-337A>G
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 2/13 chr8 18071727
chr8:18071767 G
G
 A
A
 3 a0003c0003t0001g0051
a0003c0003t0001g0269
a0003c0003t0017g0272
a0003c0003t0001g0051
a0003c0003t0001g0269
a0003c0003t0017g0272
 4 HG02683.hp2
HG02735.hp2
HG03710.hp2
others(1): Show 
HG02683.hp2
HG02735.hp2
HG03710.hp2
HG04228.hp1
 intron_variant MODIFIER c.126-377C>T
c.126-377C>T
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 2/13 chr8 18071767
chr8:18071895 C
C
 T
T
 126 a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0009
others(123): Show 
a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0072
a0001c0001t0001g0102
a0001c0001t0001g0104
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0153
a0001c0001t0001g0158
a0001c0001t0001g0161
a0001c0001t0001g0167
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0187
a0001c0001t0001g0190
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0214
a0001c0001t0001g0226
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0001t0001g0256
a0001c0001t0001g0257
a0001c0001t0001g0259
a0001c0001t0001g0261
a0001c0001t0001g0278
a0001c0001t0001g0284
a0001c0001t0002g0042
a0001c0001t0002g0165
a0001c0001t0002g0166
a0001c0001t0002g0173
a0001c0001t0002g0188
a0001c0001t0002g0189
a0001c0001t0002g0191
a0001c0001t0002g0195
a0001c0001t0002g0200
a0001c0001t0002g0201
a0001c0001t0002g0216
a0001c0001t0002g0220
a0001c0001t0002g0235
a0001c0001t0003g0159
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0029
a0001c0001t0004g0065
a0001c0001t0004g0066
a0001c0001t0004g0067
a0001c0001t0004g0068
a0001c0001t0004g0069
a0001c0001t0004g0070
a0001c0001t0004g0071
a0001c0001t0004g0079
a0001c0001t0004g0080
a0001c0001t0004g0081
a0001c0001t0004g0083
a0001c0001t0004g0084
a0001c0001t0004g0089
a0001c0001t0004g0090
a0001c0001t0006g0047
a0001c0001t0006g0154
a0001c0001t0006g0215
a0001c0001t0006g0217
a0001c0001t0006g0221
a0001c0001t0006g0222
a0001c0001t0006g0224
a0001c0001t0006g0225
a0001c0001t0006g0227
a0001c0001t0007g0058
a0001c0001t0007g0064
a0001c0001t0007g0073
a0001c0001t0007g0074
a0001c0001t0007g0075
a0001c0001t0007g0077
a0001c0001t0007g0078
a0001c0001t0007g0228
a0001c0001t0007g0229
a0001c0001t0007g0260
a0001c0001t0012g0050
a0001c0001t0012g0262
a0001c0001t0013g0281
a0001c0001t0014g0027
a0001c0001t0015g0162
a0001c0001t0015g0181
a0001c0001t0016g0043
a0001c0001t0020g0076
a0001c0001t0021g0057
a0001c0001t0022g0082
a0001c0001t0031g0117
a0001c0001t0032g0176
a0001c0001t0034g0186
a0001c0007t0023g0279
a0001c0008t0006g0218
a0001c0009t0001g0094
a0005c0005t0001g0213
a0005c0005t0011g0046
a0005c0005t0011g0211
a0005c0005t0011g0212
 177 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(174): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00438.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp2
HG00738.hp2
HG00741.hp1
HG01070.hp1
HG01081.hp1
HG01081.hp2
HG01109.hp1
HG01167.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01243.hp1
HG01255.hp1
HG01256.hp2
HG01257.hp2
HG01261.hp1
HG01261.hp2
HG01358.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp2
HG01884.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp2
HG02056.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02083.hp1
HG02129.hp1
HG02148.hp2
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02273.hp1
HG02280.hp1
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02451.hp2
HG02486.hp2
HG02615.hp1
HG02630.hp1
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03491.hp2
HG03492.hp1
HG03540.hp1
HG03669.hp1
HG03688.hp1
HG03704.hp2
HG03710.hp1
HG03834.hp1
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG04115.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
NA18612.hp1
NA18747.hp2
NA18939.hp2
NA18940.hp2
NA18942.hp2
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp2
NA18949.hp2
NA18950.hp2
NA18952.hp2
NA18953.hp1
NA18954.hp1
NA18956.hp1
NA18959.hp2
NA18960.hp1
NA18967.hp1
NA18967.hp2
NA18968.hp2
NA18970.hp2
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18975.hp1
NA18978.hp1
NA18979.hp2
NA18986.hp2
NA18992.hp1
NA18993.hp2
NA18995.hp1
NA18995.hp2
NA18997.hp1
NA18997.hp2
NA18998.hp2
NA18999.hp1
NA19001.hp1
NA19004.hp2
NA19006.hp2
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19054.hp2
NA19055.hp2
NA19056.hp2
NA19057.hp2
NA19058.hp2
NA19060.hp2
NA19062.hp2
NA19064.hp2
NA19066.hp1
NA19074.hp1
NA19077.hp2
NA19081.hp1
NA19082.hp2
NA19083.hp2
NA19084.hp2
NA19086.hp1
NA19087.hp2
NA19088.hp1
NA19090.hp1
NA19090.hp2
NA20752.hp2
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.126-505G>A
c.126-505G>A
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 2/13 chr8 18071895
chr8:18071966 C
C
 T
T
 186 a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0009
others(183): Show 
a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0072
a0001c0001t0001g0102
a0001c0001t0001g0104
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0153
a0001c0001t0001g0158
a0001c0001t0001g0161
a0001c0001t0001g0167
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0187
a0001c0001t0001g0190
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0214
a0001c0001t0001g0226
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0001t0001g0256
a0001c0001t0001g0257
a0001c0001t0001g0259
a0001c0001t0001g0261
a0001c0001t0001g0278
a0001c0001t0001g0284
a0001c0001t0002g0042
a0001c0001t0002g0165
a0001c0001t0002g0166
a0001c0001t0002g0173
a0001c0001t0002g0188
a0001c0001t0002g0189
a0001c0001t0002g0191
a0001c0001t0002g0195
a0001c0001t0002g0200
a0001c0001t0002g0201
a0001c0001t0002g0216
a0001c0001t0002g0220
a0001c0001t0002g0235
a0001c0001t0003g0159
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0029
a0001c0001t0004g0065
a0001c0001t0004g0066
a0001c0001t0004g0067
a0001c0001t0004g0068
a0001c0001t0004g0069
a0001c0001t0004g0070
a0001c0001t0004g0071
a0001c0001t0004g0079
a0001c0001t0004g0080
a0001c0001t0004g0081
a0001c0001t0004g0083
a0001c0001t0004g0084
a0001c0001t0004g0089
a0001c0001t0004g0090
a0001c0001t0006g0047
a0001c0001t0006g0154
a0001c0001t0006g0215
a0001c0001t0006g0217
a0001c0001t0006g0221
a0001c0001t0006g0222
a0001c0001t0006g0224
a0001c0001t0006g0225
a0001c0001t0006g0227
a0001c0001t0007g0058
a0001c0001t0007g0064
a0001c0001t0007g0073
a0001c0001t0007g0074
a0001c0001t0007g0075
a0001c0001t0007g0077
a0001c0001t0007g0078
a0001c0001t0007g0228
a0001c0001t0007g0229
a0001c0001t0007g0260
a0001c0001t0012g0050
a0001c0001t0012g0262
a0001c0001t0013g0281
a0001c0001t0014g0027
a0001c0001t0015g0162
a0001c0001t0015g0181
a0001c0001t0016g0043
a0001c0001t0020g0076
a0001c0001t0021g0057
a0001c0001t0022g0082
a0001c0001t0031g0117
a0001c0001t0032g0176
a0001c0001t0034g0186
a0001c0007t0023g0279
a0001c0008t0006g0218
a0001c0009t0001g0094
a0002c0002t0001g0013
a0002c0002t0001g0032
a0002c0002t0001g0136
a0002c0002t0001g0150
a0002c0002t0002g0001
a0002c0002t0002g0008
a0002c0002t0002g0017
a0002c0002t0002g0018
a0002c0002t0002g0021
a0002c0002t0002g0028
a0002c0002t0002g0034
a0002c0002t0002g0035
a0002c0002t0002g0036
a0002c0002t0002g0037
a0002c0002t0002g0038
a0002c0002t0002g0039
a0002c0002t0002g0055
a0002c0002t0002g0092
a0002c0002t0002g0093
a0002c0002t0002g0099
a0002c0002t0002g0100
a0002c0002t0002g0120
a0002c0002t0002g0131
a0002c0002t0002g0132
a0002c0002t0002g0133
a0002c0002t0002g0135
a0002c0002t0002g0137
a0002c0002t0002g0138
a0002c0002t0002g0139
a0002c0002t0002g0140
a0002c0002t0002g0141
a0002c0002t0002g0142
a0002c0002t0002g0143
a0002c0002t0002g0144
a0002c0002t0002g0145
a0002c0002t0002g0146
a0002c0002t0002g0148
a0002c0002t0002g0149
a0002c0002t0002g0151
a0002c0002t0002g0152
a0002c0002t0002g0155
a0002c0002t0002g0156
a0002c0002t0002g0157
a0002c0002t0002g0196
a0002c0002t0002g0209
a0002c0002t0002g0258
a0002c0002t0002g0285
a0002c0002t0006g0147
a0002c0002t0018g0270
a0002c0002t0025g0054
a0002c0002t0033g0053
a0002c0002t0035g0286
a0003c0003t0001g0051
a0003c0003t0001g0269
a0003c0003t0009g0014
a0003c0003t0009g0062
a0003c0003t0009g0198
a0003c0003t0009g0199
a0003c0003t0009g0219
a0003c0003t0017g0272
a0005c0005t0001g0213
a0005c0005t0011g0046
a0005c0005t0011g0211
a0005c0005t0011g0212
 278 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(275): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00438.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02148.hp2
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02818.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03098.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03239.hp1
HG03453.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03540.hp1
HG03540.hp2
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp2
HG03834.hp1
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18612.hp1
NA18747.hp1
NA18747.hp2
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18942.hp1
NA18942.hp2
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp2
NA18949.hp2
NA18950.hp2
NA18952.hp2
NA18953.hp1
NA18954.hp1
NA18956.hp1
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18963.hp1
NA18965.hp1
NA18966.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18978.hp1
NA18979.hp2
NA18981.hp1
NA18982.hp2
NA18983.hp1
NA18984.hp2
NA18986.hp2
NA18992.hp1
NA18993.hp1
NA18993.hp2
NA18995.hp1
NA18995.hp2
NA18997.hp1
NA18997.hp2
NA18998.hp2
NA18999.hp1
NA19001.hp1
NA19004.hp2
NA19006.hp2
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19054.hp1
NA19054.hp2
NA19055.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp2
NA19058.hp1
NA19058.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp2
NA19063.hp1
NA19064.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp2
NA19068.hp2
NA19074.hp1
NA19076.hp2
NA19077.hp1
NA19077.hp2
NA19081.hp1
NA19082.hp2
NA19083.hp2
NA19084.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp2
NA19088.hp1
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.126-576G>A
c.126-576G>A
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 2/13 chr8 18071966
chr8:18072013 T
T
 C
C
 89 a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0009
others(86): Show 
a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0102
a0001c0001t0001g0104
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0153
a0001c0001t0001g0158
a0001c0001t0001g0161
a0001c0001t0001g0167
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0187
a0001c0001t0001g0190
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0214
a0001c0001t0001g0226
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0001t0001g0256
a0001c0001t0001g0257
a0001c0001t0001g0259
a0001c0001t0001g0261
a0001c0001t0001g0278
a0001c0001t0001g0284
a0001c0001t0002g0042
a0001c0001t0002g0165
a0001c0001t0002g0166
a0001c0001t0002g0173
a0001c0001t0002g0188
a0001c0001t0002g0189
a0001c0001t0002g0191
a0001c0001t0002g0195
a0001c0001t0002g0200
a0001c0001t0002g0201
a0001c0001t0002g0216
a0001c0001t0002g0220
a0001c0001t0002g0235
a0001c0001t0003g0159
a0001c0001t0006g0047
a0001c0001t0006g0154
a0001c0001t0006g0215
a0001c0001t0006g0217
a0001c0001t0006g0221
a0001c0001t0006g0222
a0001c0001t0006g0224
a0001c0001t0006g0225
a0001c0001t0006g0227
a0001c0001t0012g0050
a0001c0001t0012g0262
a0001c0001t0014g0027
a0001c0001t0015g0162
a0001c0001t0015g0181
a0001c0001t0016g0043
a0001c0001t0031g0117
a0001c0001t0032g0176
a0001c0001t0034g0186
a0001c0008t0006g0218
a0001c0009t0001g0094
 132 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(129): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp2
HG00423.hp1
HG00597.hp2
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp2
HG00738.hp2
HG00741.hp1
HG01070.hp1
HG01081.hp1
HG01081.hp2
HG01109.hp1
HG01168.hp2
HG01169.hp2
HG01243.hp1
HG01255.hp1
HG01256.hp2
HG01261.hp2
HG01358.hp2
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01952.hp2
HG01975.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp2
HG02056.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02129.hp1
HG02148.hp2
HG02165.hp1
HG02280.hp1
HG02451.hp2
HG02486.hp2
HG02683.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG03017.hp2
HG03209.hp1
HG03209.hp2
HG03491.hp2
HG03492.hp1
HG03669.hp1
HG03688.hp1
HG03704.hp2
HG03710.hp1
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG04184.hp1
HG04184.hp2
NA18747.hp2
NA18939.hp2
NA18940.hp2
NA18942.hp2
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18947.hp2
NA18950.hp2
NA18952.hp2
NA18953.hp1
NA18954.hp1
NA18956.hp1
NA18959.hp2
NA18960.hp1
NA18967.hp1
NA18968.hp2
NA18970.hp2
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18975.hp1
NA18978.hp1
NA18979.hp2
NA18986.hp2
NA18992.hp1
NA18993.hp2
NA18995.hp2
NA18997.hp1
NA18997.hp2
NA18998.hp2
NA19001.hp1
NA19006.hp2
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19055.hp2
NA19056.hp2
NA19057.hp2
NA19058.hp2
NA19060.hp2
NA19062.hp2
NA19064.hp2
NA19066.hp1
NA19074.hp1
NA19077.hp2
NA19081.hp1
NA19082.hp2
NA19083.hp2
NA19084.hp2
NA19087.hp2
NA19088.hp1
NA19090.hp1
NA20752.hp2
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.126-623A>G
c.126-623A>G
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 2/13 chr8 18072013
chr8:18072076 G
G
 A
A
 4 a0005c0005t0001g0213
a0005c0005t0011g0046
a0005c0005t0011g0211
others(1): Show 
a0005c0005t0001g0213
a0005c0005t0011g0046
a0005c0005t0011g0211
a0005c0005t0011g0212
 5 HG02698.hp1
HG02698.hp2
HG03017.hp1
others(2): Show 
HG02698.hp1
HG02698.hp2
HG03017.hp1
HG03834.hp1
HG04228.hp2
 intron_variant MODIFIER c.126-686C>T
c.126-686C>T
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 2/13 chr8 18072076
chr8:18072189 G
G
 T
T
 125 a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0009
others(122): Show 
a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0072
a0001c0001t0001g0102
a0001c0001t0001g0104
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0153
a0001c0001t0001g0158
a0001c0001t0001g0161
a0001c0001t0001g0167
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0187
a0001c0001t0001g0190
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0214
a0001c0001t0001g0226
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0001t0001g0256
a0001c0001t0001g0257
a0001c0001t0001g0259
a0001c0001t0001g0261
a0001c0001t0001g0278
a0001c0001t0001g0284
a0001c0001t0002g0042
a0001c0001t0002g0165
a0001c0001t0002g0166
a0001c0001t0002g0173
a0001c0001t0002g0188
a0001c0001t0002g0189
a0001c0001t0002g0191
a0001c0001t0002g0200
a0001c0001t0002g0201
a0001c0001t0002g0216
a0001c0001t0002g0220
a0001c0001t0002g0235
a0001c0001t0003g0159
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0029
a0001c0001t0004g0065
a0001c0001t0004g0066
a0001c0001t0004g0067
a0001c0001t0004g0068
a0001c0001t0004g0069
a0001c0001t0004g0070
a0001c0001t0004g0071
a0001c0001t0004g0079
a0001c0001t0004g0080
a0001c0001t0004g0081
a0001c0001t0004g0083
a0001c0001t0004g0084
a0001c0001t0004g0089
a0001c0001t0004g0090
a0001c0001t0006g0047
a0001c0001t0006g0154
a0001c0001t0006g0215
a0001c0001t0006g0217
a0001c0001t0006g0221
a0001c0001t0006g0222
a0001c0001t0006g0224
a0001c0001t0006g0225
a0001c0001t0006g0227
a0001c0001t0007g0058
a0001c0001t0007g0064
a0001c0001t0007g0073
a0001c0001t0007g0074
a0001c0001t0007g0075
a0001c0001t0007g0077
a0001c0001t0007g0078
a0001c0001t0007g0228
a0001c0001t0007g0229
a0001c0001t0007g0260
a0001c0001t0012g0050
a0001c0001t0012g0262
a0001c0001t0013g0281
a0001c0001t0014g0027
a0001c0001t0015g0162
a0001c0001t0015g0181
a0001c0001t0016g0043
a0001c0001t0020g0076
a0001c0001t0021g0057
a0001c0001t0022g0082
a0001c0001t0031g0117
a0001c0001t0032g0176
a0001c0001t0034g0186
a0001c0007t0023g0279
a0001c0008t0006g0218
a0001c0009t0001g0094
a0005c0005t0001g0213
a0005c0005t0011g0046
a0005c0005t0011g0211
a0005c0005t0011g0212
 176 HG00099.hp2
HG00140.hp1
HG00280.hp2
others(173): Show 
HG00099.hp2
HG00140.hp1
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00438.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp2
HG00738.hp2
HG00741.hp1
HG01070.hp1
HG01081.hp1
HG01081.hp2
HG01109.hp1
HG01167.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01243.hp1
HG01255.hp1
HG01256.hp2
HG01257.hp2
HG01261.hp1
HG01261.hp2
HG01358.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp2
HG01884.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp2
HG02056.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02083.hp1
HG02129.hp1
HG02148.hp2
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02273.hp1
HG02280.hp1
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02451.hp2
HG02486.hp2
HG02615.hp1
HG02630.hp1
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03491.hp2
HG03492.hp1
HG03540.hp1
HG03669.hp1
HG03688.hp1
HG03704.hp2
HG03710.hp1
HG03834.hp1
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG04115.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
NA18612.hp1
NA18747.hp2
NA18939.hp2
NA18940.hp2
NA18942.hp2
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp2
NA18949.hp2
NA18950.hp2
NA18952.hp2
NA18953.hp1
NA18954.hp1
NA18956.hp1
NA18959.hp2
NA18960.hp1
NA18967.hp1
NA18967.hp2
NA18968.hp2
NA18970.hp2
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18975.hp1
NA18978.hp1
NA18979.hp2
NA18986.hp2
NA18992.hp1
NA18993.hp2
NA18995.hp1
NA18995.hp2
NA18997.hp1
NA18997.hp2
NA18998.hp2
NA18999.hp1
NA19001.hp1
NA19004.hp2
NA19006.hp2
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19054.hp2
NA19055.hp2
NA19056.hp2
NA19057.hp2
NA19058.hp2
NA19060.hp2
NA19062.hp2
NA19064.hp2
NA19066.hp1
NA19074.hp1
NA19077.hp2
NA19081.hp1
NA19082.hp2
NA19083.hp2
NA19084.hp2
NA19086.hp1
NA19087.hp2
NA19088.hp1
NA19090.hp1
NA19090.hp2
NA20752.hp2
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.126-799C>A
c.126-799C>A
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 2/13 chr8 18072189
chr8:18072248 C
C
 A
A
 1 a0002c0002t0003g0111
a0002c0002t0003g0111
 1 NA18977.hp2
NA18977.hp2
 intron_variant MODIFIER c.126-858G>T
c.126-858G>T
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 2/13 chr8 18072248
chr8:18072393 A
A
 G
G
 126 a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0009
others(123): Show 
a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0072
a0001c0001t0001g0102
a0001c0001t0001g0104
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0153
a0001c0001t0001g0158
a0001c0001t0001g0161
a0001c0001t0001g0167
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0187
a0001c0001t0001g0190
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0214
a0001c0001t0001g0226
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0001t0001g0256
a0001c0001t0001g0257
a0001c0001t0001g0259
a0001c0001t0001g0261
a0001c0001t0001g0278
a0001c0001t0001g0284
a0001c0001t0002g0042
a0001c0001t0002g0165
a0001c0001t0002g0166
a0001c0001t0002g0173
a0001c0001t0002g0188
a0001c0001t0002g0189
a0001c0001t0002g0191
a0001c0001t0002g0195
a0001c0001t0002g0200
a0001c0001t0002g0201
a0001c0001t0002g0216
a0001c0001t0002g0220
a0001c0001t0002g0235
a0001c0001t0003g0159
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0029
a0001c0001t0004g0065
a0001c0001t0004g0066
a0001c0001t0004g0067
a0001c0001t0004g0068
a0001c0001t0004g0069
a0001c0001t0004g0070
a0001c0001t0004g0071
a0001c0001t0004g0079
a0001c0001t0004g0080
a0001c0001t0004g0081
a0001c0001t0004g0083
a0001c0001t0004g0084
a0001c0001t0004g0089
a0001c0001t0004g0090
a0001c0001t0006g0047
a0001c0001t0006g0154
a0001c0001t0006g0215
a0001c0001t0006g0217
a0001c0001t0006g0221
a0001c0001t0006g0222
a0001c0001t0006g0224
a0001c0001t0006g0225
a0001c0001t0006g0227
a0001c0001t0007g0058
a0001c0001t0007g0064
a0001c0001t0007g0073
a0001c0001t0007g0074
a0001c0001t0007g0075
a0001c0001t0007g0077
a0001c0001t0007g0078
a0001c0001t0007g0228
a0001c0001t0007g0229
a0001c0001t0007g0260
a0001c0001t0012g0050
a0001c0001t0012g0262
a0001c0001t0013g0281
a0001c0001t0014g0027
a0001c0001t0015g0162
a0001c0001t0015g0181
a0001c0001t0016g0043
a0001c0001t0020g0076
a0001c0001t0021g0057
a0001c0001t0022g0082
a0001c0001t0031g0117
a0001c0001t0032g0176
a0001c0001t0034g0186
a0001c0007t0023g0279
a0001c0008t0006g0218
a0001c0009t0001g0094
a0005c0005t0001g0213
a0005c0005t0011g0046
a0005c0005t0011g0211
a0005c0005t0011g0212
 177 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(174): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00438.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp2
HG00738.hp2
HG00741.hp1
HG01070.hp1
HG01081.hp1
HG01081.hp2
HG01109.hp1
HG01167.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01243.hp1
HG01255.hp1
HG01256.hp2
HG01257.hp2
HG01261.hp1
HG01261.hp2
HG01358.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp2
HG01884.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp2
HG02056.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02083.hp1
HG02129.hp1
HG02148.hp2
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02273.hp1
HG02280.hp1
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02451.hp2
HG02486.hp2
HG02615.hp1
HG02630.hp1
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03491.hp2
HG03492.hp1
HG03540.hp1
HG03669.hp1
HG03688.hp1
HG03704.hp2
HG03710.hp1
HG03834.hp1
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG04115.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
NA18612.hp1
NA18747.hp2
NA18939.hp2
NA18940.hp2
NA18942.hp2
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp2
NA18949.hp2
NA18950.hp2
NA18952.hp2
NA18953.hp1
NA18954.hp1
NA18956.hp1
NA18959.hp2
NA18960.hp1
NA18967.hp1
NA18967.hp2
NA18968.hp2
NA18970.hp2
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18975.hp1
NA18978.hp1
NA18979.hp2
NA18986.hp2
NA18992.hp1
NA18993.hp2
NA18995.hp1
NA18995.hp2
NA18997.hp1
NA18997.hp2
NA18998.hp2
NA18999.hp1
NA19001.hp1
NA19004.hp2
NA19006.hp2
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19054.hp2
NA19055.hp2
NA19056.hp2
NA19057.hp2
NA19058.hp2
NA19060.hp2
NA19062.hp2
NA19064.hp2
NA19066.hp1
NA19074.hp1
NA19077.hp2
NA19081.hp1
NA19082.hp2
NA19083.hp2
NA19084.hp2
NA19086.hp1
NA19087.hp2
NA19088.hp1
NA19090.hp1
NA19090.hp2
NA20752.hp2
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.126-1003T>C
c.126-1003T>C
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 2/13 chr8 18072393
chr8:18072505 C
C
 CAGAAA
CAGAAA
 126 a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0009
others(123): Show 
a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0072
a0001c0001t0001g0102
a0001c0001t0001g0104
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0153
a0001c0001t0001g0158
a0001c0001t0001g0161
a0001c0001t0001g0167
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0187
a0001c0001t0001g0190
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0214
a0001c0001t0001g0226
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0001t0001g0256
a0001c0001t0001g0257
a0001c0001t0001g0259
a0001c0001t0001g0261
a0001c0001t0001g0278
a0001c0001t0001g0284
a0001c0001t0002g0042
a0001c0001t0002g0165
a0001c0001t0002g0166
a0001c0001t0002g0173
a0001c0001t0002g0188
a0001c0001t0002g0189
a0001c0001t0002g0191
a0001c0001t0002g0195
a0001c0001t0002g0200
a0001c0001t0002g0201
a0001c0001t0002g0216
a0001c0001t0002g0220
a0001c0001t0002g0235
a0001c0001t0003g0159
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0029
a0001c0001t0004g0065
a0001c0001t0004g0066
a0001c0001t0004g0067
a0001c0001t0004g0068
a0001c0001t0004g0069
a0001c0001t0004g0070
a0001c0001t0004g0071
a0001c0001t0004g0079
a0001c0001t0004g0080
a0001c0001t0004g0081
a0001c0001t0004g0083
a0001c0001t0004g0084
a0001c0001t0004g0089
a0001c0001t0004g0090
a0001c0001t0006g0047
a0001c0001t0006g0154
a0001c0001t0006g0215
a0001c0001t0006g0217
a0001c0001t0006g0221
a0001c0001t0006g0222
a0001c0001t0006g0224
a0001c0001t0006g0225
a0001c0001t0006g0227
a0001c0001t0007g0058
a0001c0001t0007g0064
a0001c0001t0007g0073
a0001c0001t0007g0074
a0001c0001t0007g0075
a0001c0001t0007g0077
a0001c0001t0007g0078
a0001c0001t0007g0228
a0001c0001t0007g0229
a0001c0001t0007g0260
a0001c0001t0012g0050
a0001c0001t0012g0262
a0001c0001t0013g0281
a0001c0001t0014g0027
a0001c0001t0015g0162
a0001c0001t0015g0181
a0001c0001t0016g0043
a0001c0001t0020g0076
a0001c0001t0021g0057
a0001c0001t0022g0082
a0001c0001t0031g0117
a0001c0001t0032g0176
a0001c0001t0034g0186
a0001c0007t0023g0279
a0001c0008t0006g0218
a0001c0009t0001g0094
a0005c0005t0001g0213
a0005c0005t0011g0046
a0005c0005t0011g0211
a0005c0005t0011g0212
 177 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(174): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00438.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp2
HG00738.hp2
HG00741.hp1
HG01070.hp1
HG01081.hp1
HG01081.hp2
HG01109.hp1
HG01167.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01243.hp1
HG01255.hp1
HG01256.hp2
HG01257.hp2
HG01261.hp1
HG01261.hp2
HG01358.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp2
HG01884.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp2
HG02056.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02083.hp1
HG02129.hp1
HG02148.hp2
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02273.hp1
HG02280.hp1
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02451.hp2
HG02486.hp2
HG02615.hp1
HG02630.hp1
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03491.hp2
HG03492.hp1
HG03540.hp1
HG03669.hp1
HG03688.hp1
HG03704.hp2
HG03710.hp1
HG03834.hp1
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG04115.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
NA18612.hp1
NA18747.hp2
NA18939.hp2
NA18940.hp2
NA18942.hp2
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp2
NA18949.hp2
NA18950.hp2
NA18952.hp2
NA18953.hp1
NA18954.hp1
NA18956.hp1
NA18959.hp2
NA18960.hp1
NA18967.hp1
NA18967.hp2
NA18968.hp2
NA18970.hp2
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18975.hp1
NA18978.hp1
NA18979.hp2
NA18986.hp2
NA18992.hp1
NA18993.hp2
NA18995.hp1
NA18995.hp2
NA18997.hp1
NA18997.hp2
NA18998.hp2
NA18999.hp1
NA19001.hp1
NA19004.hp2
NA19006.hp2
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19054.hp2
NA19055.hp2
NA19056.hp2
NA19057.hp2
NA19058.hp2
NA19060.hp2
NA19062.hp2
NA19064.hp2
NA19066.hp1
NA19074.hp1
NA19077.hp2
NA19081.hp1
NA19082.hp2
NA19083.hp2
NA19084.hp2
NA19086.hp1
NA19087.hp2
NA19088.hp1
NA19090.hp1
NA19090.hp2
NA20752.hp2
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.126-1120_126-1116d
others(7): Show 
c.126-1120_126-1116dupTTTCT
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 2/13 chr8 18072505
chr8:18072520 G
G
 A
A
 126 a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0009
others(123): Show 
a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0072
a0001c0001t0001g0102
a0001c0001t0001g0104
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0153
a0001c0001t0001g0158
a0001c0001t0001g0161
a0001c0001t0001g0167
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0187
a0001c0001t0001g0190
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0214
a0001c0001t0001g0226
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0001t0001g0256
a0001c0001t0001g0257
a0001c0001t0001g0259
a0001c0001t0001g0261
a0001c0001t0001g0278
a0001c0001t0001g0284
a0001c0001t0002g0042
a0001c0001t0002g0165
a0001c0001t0002g0166
a0001c0001t0002g0173
a0001c0001t0002g0188
a0001c0001t0002g0189
a0001c0001t0002g0191
a0001c0001t0002g0195
a0001c0001t0002g0200
a0001c0001t0002g0201
a0001c0001t0002g0216
a0001c0001t0002g0220
a0001c0001t0002g0235
a0001c0001t0003g0159
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0029
a0001c0001t0004g0065
a0001c0001t0004g0066
a0001c0001t0004g0067
a0001c0001t0004g0068
a0001c0001t0004g0069
a0001c0001t0004g0070
a0001c0001t0004g0071
a0001c0001t0004g0079
a0001c0001t0004g0080
a0001c0001t0004g0081
a0001c0001t0004g0083
a0001c0001t0004g0084
a0001c0001t0004g0089
a0001c0001t0004g0090
a0001c0001t0006g0047
a0001c0001t0006g0154
a0001c0001t0006g0215
a0001c0001t0006g0217
a0001c0001t0006g0221
a0001c0001t0006g0222
a0001c0001t0006g0224
a0001c0001t0006g0225
a0001c0001t0006g0227
a0001c0001t0007g0058
a0001c0001t0007g0064
a0001c0001t0007g0073
a0001c0001t0007g0074
a0001c0001t0007g0075
a0001c0001t0007g0077
a0001c0001t0007g0078
a0001c0001t0007g0228
a0001c0001t0007g0229
a0001c0001t0007g0260
a0001c0001t0012g0050
a0001c0001t0012g0262
a0001c0001t0013g0281
a0001c0001t0014g0027
a0001c0001t0015g0162
a0001c0001t0015g0181
a0001c0001t0016g0043
a0001c0001t0020g0076
a0001c0001t0021g0057
a0001c0001t0022g0082
a0001c0001t0031g0117
a0001c0001t0032g0176
a0001c0001t0034g0186
a0001c0007t0023g0279
a0001c0008t0006g0218
a0001c0009t0001g0094
a0005c0005t0001g0213
a0005c0005t0011g0046
a0005c0005t0011g0211
a0005c0005t0011g0212
 177 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(174): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00438.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp2
HG00738.hp2
HG00741.hp1
HG01070.hp1
HG01081.hp1
HG01081.hp2
HG01109.hp1
HG01167.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01243.hp1
HG01255.hp1
HG01256.hp2
HG01257.hp2
HG01261.hp1
HG01261.hp2
HG01358.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp2
HG01884.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp2
HG02056.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02083.hp1
HG02129.hp1
HG02148.hp2
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02273.hp1
HG02280.hp1
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02451.hp2
HG02486.hp2
HG02615.hp1
HG02630.hp1
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03491.hp2
HG03492.hp1
HG03540.hp1
HG03669.hp1
HG03688.hp1
HG03704.hp2
HG03710.hp1
HG03834.hp1
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG04115.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
NA18612.hp1
NA18747.hp2
NA18939.hp2
NA18940.hp2
NA18942.hp2
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp2
NA18949.hp2
NA18950.hp2
NA18952.hp2
NA18953.hp1
NA18954.hp1
NA18956.hp1
NA18959.hp2
NA18960.hp1
NA18967.hp1
NA18967.hp2
NA18968.hp2
NA18970.hp2
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18975.hp1
NA18978.hp1
NA18979.hp2
NA18986.hp2
NA18992.hp1
NA18993.hp2
NA18995.hp1
NA18995.hp2
NA18997.hp1
NA18997.hp2
NA18998.hp2
NA18999.hp1
NA19001.hp1
NA19004.hp2
NA19006.hp2
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19054.hp2
NA19055.hp2
NA19056.hp2
NA19057.hp2
NA19058.hp2
NA19060.hp2
NA19062.hp2
NA19064.hp2
NA19066.hp1
NA19074.hp1
NA19077.hp2
NA19081.hp1
NA19082.hp2
NA19083.hp2
NA19084.hp2
NA19086.hp1
NA19087.hp2
NA19088.hp1
NA19090.hp1
NA19090.hp2
NA20752.hp2
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.126-1130C>T
c.126-1130C>T
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 2/13 chr8 18072520
chr8:18072559 G
G
 A
A
 1 a0003c0003t0005g0265
a0003c0003t0005g0265
 1 HG03471.hp2
HG03471.hp2
 intron_variant MODIFIER c.126-1169C>T
c.126-1169C>T
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 2/13 chr8 18072559
chr8:18072639 T
T
 C
C
 1 a0002c0002t0002g0120
a0002c0002t0002g0120
 1 HG01175.hp1
HG01175.hp1
 intron_variant MODIFIER c.126-1249A>G
c.126-1249A>G
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 2/13 chr8 18072639
chr8:18072653 A
A
 G
G
 125 a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0009
others(122): Show 
a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0072
a0001c0001t0001g0102
a0001c0001t0001g0104
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0153
a0001c0001t0001g0158
a0001c0001t0001g0161
a0001c0001t0001g0167
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0187
a0001c0001t0001g0190
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0214
a0001c0001t0001g0226
a0001c0001t0001g0230
a0001c0001t0001g0256
a0001c0001t0001g0257
a0001c0001t0001g0259
a0001c0001t0001g0261
a0001c0001t0001g0278
a0001c0001t0001g0284
a0001c0001t0002g0042
a0001c0001t0002g0165
a0001c0001t0002g0166
a0001c0001t0002g0173
a0001c0001t0002g0188
a0001c0001t0002g0189
a0001c0001t0002g0191
a0001c0001t0002g0195
a0001c0001t0002g0200
a0001c0001t0002g0201
a0001c0001t0002g0216
a0001c0001t0002g0220
a0001c0001t0002g0235
a0001c0001t0003g0159
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0029
a0001c0001t0004g0065
a0001c0001t0004g0066
a0001c0001t0004g0067
a0001c0001t0004g0068
a0001c0001t0004g0069
a0001c0001t0004g0070
a0001c0001t0004g0071
a0001c0001t0004g0079
a0001c0001t0004g0080
a0001c0001t0004g0081
a0001c0001t0004g0083
a0001c0001t0004g0084
a0001c0001t0004g0089
a0001c0001t0004g0090
a0001c0001t0006g0047
a0001c0001t0006g0154
a0001c0001t0006g0215
a0001c0001t0006g0217
a0001c0001t0006g0221
a0001c0001t0006g0222
a0001c0001t0006g0224
a0001c0001t0006g0225
a0001c0001t0006g0227
a0001c0001t0007g0058
a0001c0001t0007g0064
a0001c0001t0007g0073
a0001c0001t0007g0074
a0001c0001t0007g0075
a0001c0001t0007g0077
a0001c0001t0007g0078
a0001c0001t0007g0228
a0001c0001t0007g0229
a0001c0001t0007g0260
a0001c0001t0012g0050
a0001c0001t0012g0262
a0001c0001t0013g0281
a0001c0001t0014g0027
a0001c0001t0015g0162
a0001c0001t0015g0181
a0001c0001t0016g0043
a0001c0001t0020g0076
a0001c0001t0021g0057
a0001c0001t0022g0082
a0001c0001t0031g0117
a0001c0001t0032g0176
a0001c0001t0034g0186
a0001c0007t0023g0279
a0001c0008t0006g0218
a0001c0009t0001g0094
a0005c0005t0001g0213
a0005c0005t0011g0046
a0005c0005t0011g0211
a0005c0005t0011g0212
 176 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(173): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00438.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp2
HG00738.hp2
HG00741.hp1
HG01070.hp1
HG01081.hp1
HG01081.hp2
HG01109.hp1
HG01167.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01243.hp1
HG01255.hp1
HG01256.hp2
HG01257.hp2
HG01261.hp1
HG01261.hp2
HG01358.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp2
HG01884.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp2
HG02056.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02083.hp1
HG02129.hp1
HG02148.hp2
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02273.hp1
HG02280.hp1
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02451.hp2
HG02486.hp2
HG02615.hp1
HG02630.hp1
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03491.hp2
HG03492.hp1
HG03540.hp1
HG03669.hp1
HG03688.hp1
HG03704.hp2
HG03710.hp1
HG03834.hp1
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG04115.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
NA18612.hp1
NA18747.hp2
NA18939.hp2
NA18940.hp2
NA18942.hp2
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp2
NA18949.hp2
NA18950.hp2
NA18952.hp2
NA18953.hp1
NA18954.hp1
NA18956.hp1
NA18959.hp2
NA18960.hp1
NA18967.hp1
NA18967.hp2
NA18968.hp2
NA18970.hp2
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18975.hp1
NA18978.hp1
NA18979.hp2
NA18986.hp2
NA18992.hp1
NA18993.hp2
NA18995.hp1
NA18995.hp2
NA18997.hp1
NA18997.hp2
NA18998.hp2
NA18999.hp1
NA19004.hp2
NA19006.hp2
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19054.hp2
NA19055.hp2
NA19056.hp2
NA19057.hp2
NA19058.hp2
NA19060.hp2
NA19062.hp2
NA19064.hp2
NA19066.hp1
NA19074.hp1
NA19077.hp2
NA19081.hp1
NA19082.hp2
NA19083.hp2
NA19084.hp2
NA19086.hp1
NA19087.hp2
NA19088.hp1
NA19090.hp1
NA19090.hp2
NA20752.hp2
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.126-1263T>C
c.126-1263T>C
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 2/13 chr8 18072653
chr8:18072704 T
T
 G
G
 1 a0003c0003t0008g0030
a0003c0003t0008g0030
 2 HG01884.hp1
HG03130.hp1
HG01884.hp1
HG03130.hp1
 intron_variant MODIFIER c.126-1314A>C
c.126-1314A>C
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 2/13 chr8 18072704
chr8:18072835 C
C
 T
T
 4 a0003c0003t0005g0024
a0003c0003t0005g0263
a0003c0003t0005g0264
others(1): Show 
a0003c0003t0005g0024
a0003c0003t0005g0263
a0003c0003t0005g0264
a0003c0003t0005g0265
 6 HG02258.hp1
HG02559.hp1
HG02647.hp1
others(3): Show 
HG02258.hp1
HG02559.hp1
HG02647.hp1
HG03041.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.126-1445G>A
c.126-1445G>A
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 2/13 chr8 18072835
chr8:18072845 A
A
 C
C
 127 a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0009
others(124): Show 
a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0072
a0001c0001t0001g0102
a0001c0001t0001g0104
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0153
a0001c0001t0001g0158
a0001c0001t0001g0161
a0001c0001t0001g0167
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0187
a0001c0001t0001g0190
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0214
a0001c0001t0001g0226
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0001t0001g0256
a0001c0001t0001g0257
a0001c0001t0001g0259
a0001c0001t0001g0261
a0001c0001t0001g0278
a0001c0001t0001g0284
a0001c0001t0002g0042
a0001c0001t0002g0165
a0001c0001t0002g0166
a0001c0001t0002g0173
a0001c0001t0002g0188
a0001c0001t0002g0189
a0001c0001t0002g0191
a0001c0001t0002g0195
a0001c0001t0002g0200
a0001c0001t0002g0201
a0001c0001t0002g0216
a0001c0001t0002g0220
a0001c0001t0002g0235
a0001c0001t0003g0159
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0029
a0001c0001t0004g0065
a0001c0001t0004g0066
a0001c0001t0004g0067
a0001c0001t0004g0068
a0001c0001t0004g0069
a0001c0001t0004g0070
a0001c0001t0004g0071
a0001c0001t0004g0079
a0001c0001t0004g0080
a0001c0001t0004g0081
a0001c0001t0004g0083
a0001c0001t0004g0084
a0001c0001t0004g0089
a0001c0001t0004g0090
a0001c0001t0006g0047
a0001c0001t0006g0154
a0001c0001t0006g0215
a0001c0001t0006g0217
a0001c0001t0006g0221
a0001c0001t0006g0222
a0001c0001t0006g0224
a0001c0001t0006g0225
a0001c0001t0006g0227
a0001c0001t0007g0058
a0001c0001t0007g0064
a0001c0001t0007g0073
a0001c0001t0007g0074
a0001c0001t0007g0075
a0001c0001t0007g0077
a0001c0001t0007g0078
a0001c0001t0007g0228
a0001c0001t0007g0229
a0001c0001t0007g0260
a0001c0001t0012g0050
a0001c0001t0012g0262
a0001c0001t0013g0281
a0001c0001t0014g0027
a0001c0001t0015g0162
a0001c0001t0015g0181
a0001c0001t0016g0043
a0001c0001t0020g0076
a0001c0001t0021g0057
a0001c0001t0022g0082
a0001c0001t0031g0117
a0001c0001t0032g0176
a0001c0001t0034g0186
a0001c0007t0023g0279
a0001c0008t0006g0218
a0001c0009t0001g0094
a0003c0003t0001g0163
a0005c0005t0001g0213
a0005c0005t0011g0046
a0005c0005t0011g0211
a0005c0005t0011g0212
 178 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(175): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00438.hp2
HG00558.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp2
HG00738.hp2
HG00741.hp1
HG01070.hp1
HG01081.hp1
HG01081.hp2
HG01109.hp1
HG01167.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01243.hp1
HG01255.hp1
HG01256.hp2
HG01257.hp2
HG01261.hp1
HG01261.hp2
HG01358.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp2
HG01884.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp2
HG02056.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02083.hp1
HG02129.hp1
HG02148.hp2
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02273.hp1
HG02280.hp1
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02451.hp2
HG02486.hp2
HG02615.hp1
HG02630.hp1
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03491.hp2
HG03492.hp1
HG03540.hp1
HG03669.hp1
HG03688.hp1
HG03704.hp2
HG03710.hp1
HG03834.hp1
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG04115.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
NA18612.hp1
NA18747.hp2
NA18939.hp2
NA18940.hp2
NA18942.hp2
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp2
NA18949.hp2
NA18950.hp2
NA18952.hp2
NA18953.hp1
NA18954.hp1
NA18956.hp1
NA18959.hp2
NA18960.hp1
NA18967.hp1
NA18967.hp2
NA18968.hp2
NA18970.hp2
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18975.hp1
NA18978.hp1
NA18979.hp2
NA18986.hp2
NA18992.hp1
NA18993.hp2
NA18995.hp1
NA18995.hp2
NA18997.hp1
NA18997.hp2
NA18998.hp2
NA18999.hp1
NA19001.hp1
NA19004.hp2
NA19006.hp2
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19054.hp2
NA19055.hp2
NA19056.hp2
NA19057.hp2
NA19058.hp2
NA19060.hp2
NA19062.hp2
NA19064.hp2
NA19066.hp1
NA19074.hp1
NA19077.hp2
NA19081.hp1
NA19082.hp2
NA19083.hp2
NA19084.hp2
NA19086.hp1
NA19087.hp2
NA19088.hp1
NA19090.hp1
NA19090.hp2
NA20752.hp2
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.126-1455T>G
c.126-1455T>G
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 2/13 chr8 18072845
chr8:18072878 T
T
 C
C
 31 a0001c0001t0001g0072
a0001c0001t0004g0010
a0001c0001t0004g0011
others(28): Show 
a0001c0001t0001g0072
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0029
a0001c0001t0004g0065
a0001c0001t0004g0066
a0001c0001t0004g0067
a0001c0001t0004g0068
a0001c0001t0004g0069
a0001c0001t0004g0070
a0001c0001t0004g0071
a0001c0001t0004g0079
a0001c0001t0004g0080
a0001c0001t0004g0081
a0001c0001t0004g0083
a0001c0001t0004g0084
a0001c0001t0004g0089
a0001c0001t0004g0090
a0001c0001t0007g0058
a0001c0001t0007g0064
a0001c0001t0007g0073
a0001c0001t0007g0074
a0001c0001t0007g0075
a0001c0001t0007g0077
a0001c0001t0007g0078
a0001c0001t0007g0228
a0001c0001t0007g0229
a0001c0001t0007g0260
a0001c0001t0020g0076
a0001c0001t0021g0057
a0001c0001t0022g0082
 38 HG00323.hp2
HG00438.hp2
HG01167.hp1
others(35): Show 
HG00323.hp2
HG00438.hp2
HG01167.hp1
HG01169.hp1
HG01257.hp2
HG01261.hp1
HG01361.hp1
HG01433.hp1
HG01496.hp1
HG01884.hp2
HG01952.hp1
HG02083.hp1
HG02257.hp1
HG02273.hp1
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02615.hp1
HG02630.hp1
HG03041.hp2
HG03195.hp1
HG03225.hp1
HG03540.hp1
HG04115.hp1
HG04204.hp1
HG06807.hp1
NA18612.hp1
NA18945.hp2
NA18949.hp2
NA18967.hp2
NA18972.hp1
NA18995.hp1
NA18999.hp1
NA19004.hp2
NA19043.hp1
NA19054.hp2
NA19086.hp1
NA19090.hp2
 intron_variant MODIFIER c.126-1488A>G
c.126-1488A>G
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 2/13 chr8 18072878
chr8:18072926 C
C
 T
T
 126 a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0009
others(123): Show 
a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0072
a0001c0001t0001g0102
a0001c0001t0001g0104
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0153
a0001c0001t0001g0158
a0001c0001t0001g0161
a0001c0001t0001g0167
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0187
a0001c0001t0001g0190
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0214
a0001c0001t0001g0226
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0001t0001g0256
a0001c0001t0001g0257
a0001c0001t0001g0259
a0001c0001t0001g0261
a0001c0001t0001g0278
a0001c0001t0001g0284
a0001c0001t0002g0042
a0001c0001t0002g0165
a0001c0001t0002g0166
a0001c0001t0002g0173
a0001c0001t0002g0188
a0001c0001t0002g0189
a0001c0001t0002g0191
a0001c0001t0002g0195
a0001c0001t0002g0200
a0001c0001t0002g0201
a0001c0001t0002g0216
a0001c0001t0002g0220
a0001c0001t0002g0235
a0001c0001t0003g0159
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0029
a0001c0001t0004g0065
a0001c0001t0004g0066
a0001c0001t0004g0067
a0001c0001t0004g0068
a0001c0001t0004g0069
a0001c0001t0004g0070
a0001c0001t0004g0071
a0001c0001t0004g0079
a0001c0001t0004g0080
a0001c0001t0004g0081
a0001c0001t0004g0083
a0001c0001t0004g0084
a0001c0001t0004g0089
a0001c0001t0004g0090
a0001c0001t0006g0047
a0001c0001t0006g0154
a0001c0001t0006g0215
a0001c0001t0006g0217
a0001c0001t0006g0221
a0001c0001t0006g0222
a0001c0001t0006g0224
a0001c0001t0006g0225
a0001c0001t0006g0227
a0001c0001t0007g0058
a0001c0001t0007g0064
a0001c0001t0007g0073
a0001c0001t0007g0074
a0001c0001t0007g0075
a0001c0001t0007g0077
a0001c0001t0007g0078
a0001c0001t0007g0228
a0001c0001t0007g0229
a0001c0001t0007g0260
a0001c0001t0012g0050
a0001c0001t0012g0262
a0001c0001t0013g0281
a0001c0001t0014g0027
a0001c0001t0015g0162
a0001c0001t0015g0181
a0001c0001t0016g0043
a0001c0001t0020g0076
a0001c0001t0021g0057
a0001c0001t0022g0082
a0001c0001t0031g0117
a0001c0001t0032g0176
a0001c0001t0034g0186
a0001c0007t0023g0279
a0001c0008t0006g0218
a0001c0009t0001g0094
a0005c0005t0001g0213
a0005c0005t0011g0046
a0005c0005t0011g0211
a0005c0005t0011g0212
 177 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(174): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00438.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp2
HG00738.hp2
HG00741.hp1
HG01070.hp1
HG01081.hp1
HG01081.hp2
HG01109.hp1
HG01167.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01243.hp1
HG01255.hp1
HG01256.hp2
HG01257.hp2
HG01261.hp1
HG01261.hp2
HG01358.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp2
HG01884.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp2
HG02056.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02083.hp1
HG02129.hp1
HG02148.hp2
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02273.hp1
HG02280.hp1
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02451.hp2
HG02486.hp2
HG02615.hp1
HG02630.hp1
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03491.hp2
HG03492.hp1
HG03540.hp1
HG03669.hp1
HG03688.hp1
HG03704.hp2
HG03710.hp1
HG03834.hp1
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG04115.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
NA18612.hp1
NA18747.hp2
NA18939.hp2
NA18940.hp2
NA18942.hp2
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp2
NA18949.hp2
NA18950.hp2
NA18952.hp2
NA18953.hp1
NA18954.hp1
NA18956.hp1
NA18959.hp2
NA18960.hp1
NA18967.hp1
NA18967.hp2
NA18968.hp2
NA18970.hp2
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18975.hp1
NA18978.hp1
NA18979.hp2
NA18986.hp2
NA18992.hp1
NA18993.hp2
NA18995.hp1
NA18995.hp2
NA18997.hp1
NA18997.hp2
NA18998.hp2
NA18999.hp1
NA19001.hp1
NA19004.hp2
NA19006.hp2
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19054.hp2
NA19055.hp2
NA19056.hp2
NA19057.hp2
NA19058.hp2
NA19060.hp2
NA19062.hp2
NA19064.hp2
NA19066.hp1
NA19074.hp1
NA19077.hp2
NA19081.hp1
NA19082.hp2
NA19083.hp2
NA19084.hp2
NA19086.hp1
NA19087.hp2
NA19088.hp1
NA19090.hp1
NA19090.hp2
NA20752.hp2
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.126-1536G>A
c.126-1536G>A
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 2/13 chr8 18072926
chr8:18072990 C
C
 T
T
 31 a0001c0001t0001g0072
a0001c0001t0004g0010
a0001c0001t0004g0011
others(28): Show 
a0001c0001t0001g0072
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0029
a0001c0001t0004g0065
a0001c0001t0004g0066
a0001c0001t0004g0067
a0001c0001t0004g0068
a0001c0001t0004g0069
a0001c0001t0004g0070
a0001c0001t0004g0071
a0001c0001t0004g0079
a0001c0001t0004g0080
a0001c0001t0004g0081
a0001c0001t0004g0083
a0001c0001t0004g0084
a0001c0001t0004g0089
a0001c0001t0004g0090
a0001c0001t0007g0058
a0001c0001t0007g0064
a0001c0001t0007g0073
a0001c0001t0007g0074
a0001c0001t0007g0075
a0001c0001t0007g0077
a0001c0001t0007g0078
a0001c0001t0007g0228
a0001c0001t0007g0229
a0001c0001t0007g0260
a0001c0001t0020g0076
a0001c0001t0021g0057
a0001c0001t0022g0082
 38 HG00323.hp2
HG00438.hp2
HG01167.hp1
others(35): Show 
HG00323.hp2
HG00438.hp2
HG01167.hp1
HG01169.hp1
HG01257.hp2
HG01261.hp1
HG01361.hp1
HG01433.hp1
HG01496.hp1
HG01884.hp2
HG01952.hp1
HG02083.hp1
HG02257.hp1
HG02273.hp1
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02615.hp1
HG02630.hp1
HG03041.hp2
HG03195.hp1
HG03225.hp1
HG03540.hp1
HG04115.hp1
HG04204.hp1
HG06807.hp1
NA18612.hp1
NA18945.hp2
NA18949.hp2
NA18967.hp2
NA18972.hp1
NA18995.hp1
NA18999.hp1
NA19004.hp2
NA19043.hp1
NA19054.hp2
NA19086.hp1
NA19090.hp2
 intron_variant MODIFIER c.126-1600G>A
c.126-1600G>A
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 2/13 chr8 18072990
chr8:18072992 C
C
 T
T
 1 a0002c0002t0003g0105
a0002c0002t0003g0105
 1 HG02165.hp2
HG02165.hp2
 intron_variant MODIFIER c.126-1602G>A
c.126-1602G>A
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 2/13 chr8 18072992
chr8:18073040 T
T
 G
G
 1 a0001c0001t0001g0044
a0001c0001t0001g0044
 2 HG00639.hp2
HG01070.hp1
HG00639.hp2
HG01070.hp1
 intron_variant MODIFIER c.126-1650A>C
c.126-1650A>C
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 2/13 chr8 18073040
chr8:18073096 A
A
 C
C
 128 a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0009
others(125): Show 
a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0072
a0001c0001t0001g0102
a0001c0001t0001g0104
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0153
a0001c0001t0001g0158
a0001c0001t0001g0161
a0001c0001t0001g0167
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0187
a0001c0001t0001g0190
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0214
a0001c0001t0001g0226
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0001t0001g0256
a0001c0001t0001g0257
a0001c0001t0001g0259
a0001c0001t0001g0261
a0001c0001t0001g0278
a0001c0001t0001g0284
a0001c0001t0002g0042
a0001c0001t0002g0165
a0001c0001t0002g0166
a0001c0001t0002g0173
a0001c0001t0002g0188
a0001c0001t0002g0189
a0001c0001t0002g0191
a0001c0001t0002g0195
a0001c0001t0002g0200
a0001c0001t0002g0201
a0001c0001t0002g0216
a0001c0001t0002g0220
a0001c0001t0002g0235
a0001c0001t0003g0159
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0029
a0001c0001t0004g0065
a0001c0001t0004g0066
a0001c0001t0004g0067
a0001c0001t0004g0068
a0001c0001t0004g0069
a0001c0001t0004g0070
a0001c0001t0004g0071
a0001c0001t0004g0079
a0001c0001t0004g0080
a0001c0001t0004g0081
a0001c0001t0004g0083
a0001c0001t0004g0084
a0001c0001t0004g0089
a0001c0001t0004g0090
a0001c0001t0006g0047
a0001c0001t0006g0154
a0001c0001t0006g0215
a0001c0001t0006g0217
a0001c0001t0006g0221
a0001c0001t0006g0222
a0001c0001t0006g0224
a0001c0001t0006g0225
a0001c0001t0006g0227
a0001c0001t0007g0058
a0001c0001t0007g0064
a0001c0001t0007g0073
a0001c0001t0007g0074
a0001c0001t0007g0075
a0001c0001t0007g0077
a0001c0001t0007g0078
a0001c0001t0007g0228
a0001c0001t0007g0229
a0001c0001t0007g0260
a0001c0001t0012g0050
a0001c0001t0012g0262
a0001c0001t0013g0281
a0001c0001t0014g0027
a0001c0001t0015g0162
a0001c0001t0015g0181
a0001c0001t0016g0043
a0001c0001t0020g0076
a0001c0001t0021g0057
a0001c0001t0022g0082
a0001c0001t0031g0117
a0001c0001t0032g0176
a0001c0001t0034g0186
a0001c0007t0023g0279
a0001c0008t0006g0218
a0001c0009t0001g0094
a0002c0002t0002g0196
a0003c0003t0001g0163
a0005c0005t0001g0213
a0005c0005t0011g0046
a0005c0005t0011g0211
a0005c0005t0011g0212
 179 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(176): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00438.hp2
HG00558.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp2
HG00738.hp2
HG00741.hp1
HG01070.hp1
HG01081.hp1
HG01081.hp2
HG01109.hp1
HG01167.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01243.hp1
HG01255.hp1
HG01256.hp2
HG01257.hp2
HG01261.hp1
HG01261.hp2
HG01358.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp2
HG01884.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp2
HG02056.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02083.hp1
HG02129.hp1
HG02148.hp2
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02273.hp1
HG02280.hp1
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02451.hp2
HG02486.hp2
HG02615.hp1
HG02630.hp1
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03491.hp2
HG03492.hp1
HG03540.hp1
HG03669.hp1
HG03688.hp1
HG03704.hp2
HG03710.hp1
HG03834.hp1
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
NA18612.hp1
NA18747.hp2
NA18939.hp2
NA18940.hp2
NA18942.hp2
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp2
NA18949.hp2
NA18950.hp2
NA18952.hp2
NA18953.hp1
NA18954.hp1
NA18956.hp1
NA18959.hp2
NA18960.hp1
NA18967.hp1
NA18967.hp2
NA18968.hp2
NA18970.hp2
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18975.hp1
NA18978.hp1
NA18979.hp2
NA18986.hp2
NA18992.hp1
NA18993.hp2
NA18995.hp1
NA18995.hp2
NA18997.hp1
NA18997.hp2
NA18998.hp2
NA18999.hp1
NA19001.hp1
NA19004.hp2
NA19006.hp2
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19054.hp2
NA19055.hp2
NA19056.hp2
NA19057.hp2
NA19058.hp2
NA19060.hp2
NA19062.hp2
NA19064.hp2
NA19066.hp1
NA19074.hp1
NA19077.hp2
NA19081.hp1
NA19082.hp2
NA19083.hp2
NA19084.hp2
NA19086.hp1
NA19087.hp2
NA19088.hp1
NA19090.hp1
NA19090.hp2
NA20752.hp2
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.126-1706T>G
c.126-1706T>G
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 2/13 chr8 18073096
chr8:18073218 G
G
 A
A
 126 a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0009
others(123): Show 
a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0072
a0001c0001t0001g0102
a0001c0001t0001g0104
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0153
a0001c0001t0001g0158
a0001c0001t0001g0161
a0001c0001t0001g0167
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0187
a0001c0001t0001g0190
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0214
a0001c0001t0001g0226
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0001t0001g0256
a0001c0001t0001g0257
a0001c0001t0001g0259
a0001c0001t0001g0261
a0001c0001t0001g0278
a0001c0001t0001g0284
a0001c0001t0002g0042
a0001c0001t0002g0165
a0001c0001t0002g0166
a0001c0001t0002g0173
a0001c0001t0002g0188
a0001c0001t0002g0189
a0001c0001t0002g0191
a0001c0001t0002g0195
a0001c0001t0002g0200
a0001c0001t0002g0201
a0001c0001t0002g0216
a0001c0001t0002g0220
a0001c0001t0002g0235
a0001c0001t0003g0159
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0029
a0001c0001t0004g0065
a0001c0001t0004g0066
a0001c0001t0004g0067
a0001c0001t0004g0068
a0001c0001t0004g0069
a0001c0001t0004g0070
a0001c0001t0004g0071
a0001c0001t0004g0079
a0001c0001t0004g0080
a0001c0001t0004g0081
a0001c0001t0004g0083
a0001c0001t0004g0084
a0001c0001t0004g0089
a0001c0001t0004g0090
a0001c0001t0006g0047
a0001c0001t0006g0154
a0001c0001t0006g0215
a0001c0001t0006g0217
a0001c0001t0006g0221
a0001c0001t0006g0222
a0001c0001t0006g0224
a0001c0001t0006g0225
a0001c0001t0006g0227
a0001c0001t0007g0058
a0001c0001t0007g0064
a0001c0001t0007g0073
a0001c0001t0007g0074
a0001c0001t0007g0075
a0001c0001t0007g0077
a0001c0001t0007g0078
a0001c0001t0007g0228
a0001c0001t0007g0229
a0001c0001t0007g0260
a0001c0001t0012g0050
a0001c0001t0012g0262
a0001c0001t0013g0281
a0001c0001t0014g0027
a0001c0001t0015g0162
a0001c0001t0015g0181
a0001c0001t0016g0043
a0001c0001t0020g0076
a0001c0001t0021g0057
a0001c0001t0022g0082
a0001c0001t0031g0117
a0001c0001t0032g0176
a0001c0001t0034g0186
a0001c0007t0023g0279
a0001c0008t0006g0218
a0001c0009t0001g0094
a0005c0005t0001g0213
a0005c0005t0011g0046
a0005c0005t0011g0211
a0005c0005t0011g0212
 177 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(174): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00438.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp2
HG00738.hp2
HG00741.hp1
HG01070.hp1
HG01081.hp1
HG01081.hp2
HG01109.hp1
HG01167.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01243.hp1
HG01255.hp1
HG01256.hp2
HG01257.hp2
HG01261.hp1
HG01261.hp2
HG01358.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp2
HG01884.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp2
HG02056.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02083.hp1
HG02129.hp1
HG02148.hp2
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02273.hp1
HG02280.hp1
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02451.hp2
HG02486.hp2
HG02615.hp1
HG02630.hp1
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03491.hp2
HG03492.hp1
HG03540.hp1
HG03669.hp1
HG03688.hp1
HG03704.hp2
HG03710.hp1
HG03834.hp1
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG04115.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
NA18612.hp1
NA18747.hp2
NA18939.hp2
NA18940.hp2
NA18942.hp2
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp2
NA18949.hp2
NA18950.hp2
NA18952.hp2
NA18953.hp1
NA18954.hp1
NA18956.hp1
NA18959.hp2
NA18960.hp1
NA18967.hp1
NA18967.hp2
NA18968.hp2
NA18970.hp2
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18975.hp1
NA18978.hp1
NA18979.hp2
NA18986.hp2
NA18992.hp1
NA18993.hp2
NA18995.hp1
NA18995.hp2
NA18997.hp1
NA18997.hp2
NA18998.hp2
NA18999.hp1
NA19001.hp1
NA19004.hp2
NA19006.hp2
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19054.hp2
NA19055.hp2
NA19056.hp2
NA19057.hp2
NA19058.hp2
NA19060.hp2
NA19062.hp2
NA19064.hp2
NA19066.hp1
NA19074.hp1
NA19077.hp2
NA19081.hp1
NA19082.hp2
NA19083.hp2
NA19084.hp2
NA19086.hp1
NA19087.hp2
NA19088.hp1
NA19090.hp1
NA19090.hp2
NA20752.hp2
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.126-1828C>T
c.126-1828C>T
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 2/13 chr8 18073218
chr8:18073219 C
C
 T
T
 1 a0001c0001t0002g0235
a0001c0001t0002g0235
 1 HG03209.hp1
HG03209.hp1
 intron_variant MODIFIER c.126-1829G>A
c.126-1829G>A
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 2/13 chr8 18073219
chr8:18073225 C
C
 A
A
 125 a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0009
others(122): Show 
a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0072
a0001c0001t0001g0102
a0001c0001t0001g0104
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0153
a0001c0001t0001g0158
a0001c0001t0001g0161
a0001c0001t0001g0167
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0187
a0001c0001t0001g0190
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0214
a0001c0001t0001g0226
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0001t0001g0256
a0001c0001t0001g0257
a0001c0001t0001g0259
a0001c0001t0001g0261
a0001c0001t0001g0278
a0001c0001t0001g0284
a0001c0001t0002g0042
a0001c0001t0002g0165
a0001c0001t0002g0166
a0001c0001t0002g0173
a0001c0001t0002g0188
a0001c0001t0002g0189
a0001c0001t0002g0191
a0001c0001t0002g0195
a0001c0001t0002g0200
a0001c0001t0002g0201
a0001c0001t0002g0216
a0001c0001t0002g0220
a0001c0001t0003g0159
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0029
a0001c0001t0004g0065
a0001c0001t0004g0066
a0001c0001t0004g0067
a0001c0001t0004g0068
a0001c0001t0004g0069
a0001c0001t0004g0070
a0001c0001t0004g0071
a0001c0001t0004g0079
a0001c0001t0004g0080
a0001c0001t0004g0081
a0001c0001t0004g0083
a0001c0001t0004g0084
a0001c0001t0004g0089
a0001c0001t0004g0090
a0001c0001t0006g0047
a0001c0001t0006g0154
a0001c0001t0006g0215
a0001c0001t0006g0217
a0001c0001t0006g0221
a0001c0001t0006g0222
a0001c0001t0006g0224
a0001c0001t0006g0225
a0001c0001t0006g0227
a0001c0001t0007g0058
a0001c0001t0007g0064
a0001c0001t0007g0073
a0001c0001t0007g0074
a0001c0001t0007g0075
a0001c0001t0007g0077
a0001c0001t0007g0078
a0001c0001t0007g0228
a0001c0001t0007g0229
a0001c0001t0007g0260
a0001c0001t0012g0050
a0001c0001t0012g0262
a0001c0001t0013g0281
a0001c0001t0014g0027
a0001c0001t0015g0162
a0001c0001t0015g0181
a0001c0001t0016g0043
a0001c0001t0020g0076
a0001c0001t0021g0057
a0001c0001t0022g0082
a0001c0001t0031g0117
a0001c0001t0032g0176
a0001c0001t0034g0186
a0001c0007t0023g0279
a0001c0008t0006g0218
a0001c0009t0001g0094
a0005c0005t0001g0213
a0005c0005t0011g0046
a0005c0005t0011g0211
a0005c0005t0011g0212
 176 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(173): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00438.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp2
HG00738.hp2
HG00741.hp1
HG01070.hp1
HG01081.hp1
HG01081.hp2
HG01109.hp1
HG01167.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01243.hp1
HG01255.hp1
HG01256.hp2
HG01257.hp2
HG01261.hp1
HG01261.hp2
HG01358.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp2
HG01884.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp2
HG02056.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02083.hp1
HG02129.hp1
HG02148.hp2
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02273.hp1
HG02280.hp1
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02451.hp2
HG02486.hp2
HG02615.hp1
HG02630.hp1
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03195.hp1
HG03209.hp2
HG03225.hp1
HG03491.hp2
HG03492.hp1
HG03540.hp1
HG03669.hp1
HG03688.hp1
HG03704.hp2
HG03710.hp1
HG03834.hp1
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG04115.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
NA18612.hp1
NA18747.hp2
NA18939.hp2
NA18940.hp2
NA18942.hp2
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp2
NA18949.hp2
NA18950.hp2
NA18952.hp2
NA18953.hp1
NA18954.hp1
NA18956.hp1
NA18959.hp2
NA18960.hp1
NA18967.hp1
NA18967.hp2
NA18968.hp2
NA18970.hp2
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18975.hp1
NA18978.hp1
NA18979.hp2
NA18986.hp2
NA18992.hp1
NA18993.hp2
NA18995.hp1
NA18995.hp2
NA18997.hp1
NA18997.hp2
NA18998.hp2
NA18999.hp1
NA19001.hp1
NA19004.hp2
NA19006.hp2
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19054.hp2
NA19055.hp2
NA19056.hp2
NA19057.hp2
NA19058.hp2
NA19060.hp2
NA19062.hp2
NA19064.hp2
NA19066.hp1
NA19074.hp1
NA19077.hp2
NA19081.hp1
NA19082.hp2
NA19083.hp2
NA19084.hp2
NA19086.hp1
NA19087.hp2
NA19088.hp1
NA19090.hp1
NA19090.hp2
NA20752.hp2
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.126-1835G>T
c.126-1835G>T
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 2/13 chr8 18073225
chr8:18073263 C
C
 T
T
 125 a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0009
others(122): Show 
a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0072
a0001c0001t0001g0102
a0001c0001t0001g0104
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0153
a0001c0001t0001g0158
a0001c0001t0001g0161
a0001c0001t0001g0167
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0187
a0001c0001t0001g0190
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0214
a0001c0001t0001g0226
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0001t0001g0256
a0001c0001t0001g0257
a0001c0001t0001g0259
a0001c0001t0001g0261
a0001c0001t0001g0278
a0001c0001t0002g0042
a0001c0001t0002g0165
a0001c0001t0002g0166
a0001c0001t0002g0173
a0001c0001t0002g0188
a0001c0001t0002g0189
a0001c0001t0002g0191
a0001c0001t0002g0195
a0001c0001t0002g0200
a0001c0001t0002g0201
a0001c0001t0002g0216
a0001c0001t0002g0220
a0001c0001t0002g0235
a0001c0001t0003g0159
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0029
a0001c0001t0004g0065
a0001c0001t0004g0066
a0001c0001t0004g0067
a0001c0001t0004g0068
a0001c0001t0004g0069
a0001c0001t0004g0070
a0001c0001t0004g0071
a0001c0001t0004g0079
a0001c0001t0004g0080
a0001c0001t0004g0081
a0001c0001t0004g0083
a0001c0001t0004g0084
a0001c0001t0004g0089
a0001c0001t0004g0090
a0001c0001t0006g0047
a0001c0001t0006g0154
a0001c0001t0006g0215
a0001c0001t0006g0217
a0001c0001t0006g0221
a0001c0001t0006g0222
a0001c0001t0006g0224
a0001c0001t0006g0225
a0001c0001t0006g0227
a0001c0001t0007g0058
a0001c0001t0007g0064
a0001c0001t0007g0073
a0001c0001t0007g0074
a0001c0001t0007g0075
a0001c0001t0007g0077
a0001c0001t0007g0078
a0001c0001t0007g0228
a0001c0001t0007g0229
a0001c0001t0007g0260
a0001c0001t0012g0050
a0001c0001t0012g0262
a0001c0001t0013g0281
a0001c0001t0014g0027
a0001c0001t0015g0162
a0001c0001t0015g0181
a0001c0001t0016g0043
a0001c0001t0020g0076
a0001c0001t0021g0057
a0001c0001t0022g0082
a0001c0001t0031g0117
a0001c0001t0032g0176
a0001c0001t0034g0186
a0001c0007t0023g0279
a0001c0008t0006g0218
a0001c0009t0001g0094
a0005c0005t0001g0213
a0005c0005t0011g0046
a0005c0005t0011g0211
a0005c0005t0011g0212
 176 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(173): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00438.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp2
HG00738.hp2
HG00741.hp1
HG01070.hp1
HG01081.hp1
HG01081.hp2
HG01109.hp1
HG01167.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01243.hp1
HG01255.hp1
HG01256.hp2
HG01257.hp2
HG01261.hp1
HG01261.hp2
HG01358.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp2
HG01884.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp2
HG02056.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02083.hp1
HG02129.hp1
HG02148.hp2
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02273.hp1
HG02280.hp1
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02451.hp2
HG02486.hp2
HG02615.hp1
HG02630.hp1
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03491.hp2
HG03492.hp1
HG03540.hp1
HG03669.hp1
HG03688.hp1
HG03704.hp2
HG03710.hp1
HG03834.hp1
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG04115.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
NA18612.hp1
NA18747.hp2
NA18939.hp2
NA18940.hp2
NA18942.hp2
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp2
NA18949.hp2
NA18950.hp2
NA18952.hp2
NA18953.hp1
NA18954.hp1
NA18956.hp1
NA18959.hp2
NA18960.hp1
NA18967.hp1
NA18967.hp2
NA18968.hp2
NA18970.hp2
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18975.hp1
NA18978.hp1
NA18979.hp2
NA18986.hp2
NA18992.hp1
NA18993.hp2
NA18995.hp1
NA18995.hp2
NA18997.hp1
NA18997.hp2
NA18998.hp2
NA18999.hp1
NA19001.hp1
NA19004.hp2
NA19006.hp2
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19054.hp2
NA19055.hp2
NA19056.hp2
NA19057.hp2
NA19058.hp2
NA19060.hp2
NA19062.hp2
NA19064.hp2
NA19066.hp1
NA19074.hp1
NA19077.hp2
NA19081.hp1
NA19082.hp2
NA19084.hp2
NA19086.hp1
NA19087.hp2
NA19088.hp1
NA19090.hp1
NA19090.hp2
NA20752.hp2
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.126-1873G>A
c.126-1873G>A
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 2/13 chr8 18073263
chr8:18073467 T
T
 C
C
 1 a0002c0002t0002g0092
a0002c0002t0002g0092
 1 HG02071.hp1
HG02071.hp1
 intron_variant MODIFIER c.125+2074A>G
c.125+2074A>G
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 2/13 chr8 18073467
chr8:18073490 A
A
 G
G
 126 a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0009
others(123): Show 
a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0072
a0001c0001t0001g0102
a0001c0001t0001g0104
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0153
a0001c0001t0001g0158
a0001c0001t0001g0161
a0001c0001t0001g0167
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0187
a0001c0001t0001g0190
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0214
a0001c0001t0001g0226
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0001t0001g0256
a0001c0001t0001g0257
a0001c0001t0001g0259
a0001c0001t0001g0261
a0001c0001t0001g0278
a0001c0001t0001g0284
a0001c0001t0002g0042
a0001c0001t0002g0165
a0001c0001t0002g0166
a0001c0001t0002g0173
a0001c0001t0002g0188
a0001c0001t0002g0189
a0001c0001t0002g0191
a0001c0001t0002g0195
a0001c0001t0002g0200
a0001c0001t0002g0201
a0001c0001t0002g0216
a0001c0001t0002g0220
a0001c0001t0002g0235
a0001c0001t0003g0159
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0029
a0001c0001t0004g0065
a0001c0001t0004g0066
a0001c0001t0004g0067
a0001c0001t0004g0068
a0001c0001t0004g0069
a0001c0001t0004g0070
a0001c0001t0004g0071
a0001c0001t0004g0079
a0001c0001t0004g0080
a0001c0001t0004g0081
a0001c0001t0004g0083
a0001c0001t0004g0084
a0001c0001t0004g0089
a0001c0001t0004g0090
a0001c0001t0006g0047
a0001c0001t0006g0154
a0001c0001t0006g0215
a0001c0001t0006g0217
a0001c0001t0006g0221
a0001c0001t0006g0222
a0001c0001t0006g0224
a0001c0001t0006g0225
a0001c0001t0006g0227
a0001c0001t0007g0058
a0001c0001t0007g0064
a0001c0001t0007g0073
a0001c0001t0007g0074
a0001c0001t0007g0075
a0001c0001t0007g0077
a0001c0001t0007g0078
a0001c0001t0007g0228
a0001c0001t0007g0229
a0001c0001t0007g0260
a0001c0001t0012g0050
a0001c0001t0012g0262
a0001c0001t0013g0281
a0001c0001t0014g0027
a0001c0001t0015g0162
a0001c0001t0015g0181
a0001c0001t0016g0043
a0001c0001t0020g0076
a0001c0001t0021g0057
a0001c0001t0022g0082
a0001c0001t0031g0117
a0001c0001t0032g0176
a0001c0001t0034g0186
a0001c0007t0023g0279
a0001c0008t0006g0218
a0001c0009t0001g0094
a0005c0005t0001g0213
a0005c0005t0011g0046
a0005c0005t0011g0211
a0005c0005t0011g0212
 177 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(174): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00438.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp2
HG00738.hp2
HG00741.hp1
HG01070.hp1
HG01081.hp1
HG01081.hp2
HG01109.hp1
HG01167.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01243.hp1
HG01255.hp1
HG01256.hp2
HG01257.hp2
HG01261.hp1
HG01261.hp2
HG01358.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp2
HG01884.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp2
HG02056.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02083.hp1
HG02129.hp1
HG02148.hp2
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02273.hp1
HG02280.hp1
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02451.hp2
HG02486.hp2
HG02615.hp1
HG02630.hp1
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03491.hp2
HG03492.hp1
HG03540.hp1
HG03669.hp1
HG03688.hp1
HG03704.hp2
HG03710.hp1
HG03834.hp1
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG04115.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
NA18612.hp1
NA18747.hp2
NA18939.hp2
NA18940.hp2
NA18942.hp2
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp2
NA18949.hp2
NA18950.hp2
NA18952.hp2
NA18953.hp1
NA18954.hp1
NA18956.hp1
NA18959.hp2
NA18960.hp1
NA18967.hp1
NA18967.hp2
NA18968.hp2
NA18970.hp2
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18975.hp1
NA18978.hp1
NA18979.hp2
NA18986.hp2
NA18992.hp1
NA18993.hp2
NA18995.hp1
NA18995.hp2
NA18997.hp1
NA18997.hp2
NA18998.hp2
NA18999.hp1
NA19001.hp1
NA19004.hp2
NA19006.hp2
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19054.hp2
NA19055.hp2
NA19056.hp2
NA19057.hp2
NA19058.hp2
NA19060.hp2
NA19062.hp2
NA19064.hp2
NA19066.hp1
NA19074.hp1
NA19077.hp2
NA19081.hp1
NA19082.hp2
NA19083.hp2
NA19084.hp2
NA19086.hp1
NA19087.hp2
NA19088.hp1
NA19090.hp1
NA19090.hp2
NA20752.hp2
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.125+2051T>C
c.125+2051T>C
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 2/13 chr8 18073490
chr8:18073582 C
C
 T
T
 125 a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0009
others(122): Show 
a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0072
a0001c0001t0001g0104
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0153
a0001c0001t0001g0158
a0001c0001t0001g0161
a0001c0001t0001g0167
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0187
a0001c0001t0001g0190
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0214
a0001c0001t0001g0226
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0001t0001g0256
a0001c0001t0001g0257
a0001c0001t0001g0259
a0001c0001t0001g0261
a0001c0001t0001g0278
a0001c0001t0001g0284
a0001c0001t0002g0042
a0001c0001t0002g0165
a0001c0001t0002g0166
a0001c0001t0002g0173
a0001c0001t0002g0188
a0001c0001t0002g0189
a0001c0001t0002g0191
a0001c0001t0002g0195
a0001c0001t0002g0200
a0001c0001t0002g0201
a0001c0001t0002g0216
a0001c0001t0002g0220
a0001c0001t0002g0235
a0001c0001t0003g0159
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0029
a0001c0001t0004g0065
a0001c0001t0004g0066
a0001c0001t0004g0067
a0001c0001t0004g0068
a0001c0001t0004g0069
a0001c0001t0004g0070
a0001c0001t0004g0071
a0001c0001t0004g0079
a0001c0001t0004g0080
a0001c0001t0004g0081
a0001c0001t0004g0083
a0001c0001t0004g0084
a0001c0001t0004g0089
a0001c0001t0004g0090
a0001c0001t0006g0047
a0001c0001t0006g0154
a0001c0001t0006g0215
a0001c0001t0006g0217
a0001c0001t0006g0221
a0001c0001t0006g0222
a0001c0001t0006g0224
a0001c0001t0006g0225
a0001c0001t0006g0227
a0001c0001t0007g0058
a0001c0001t0007g0064
a0001c0001t0007g0073
a0001c0001t0007g0074
a0001c0001t0007g0075
a0001c0001t0007g0077
a0001c0001t0007g0078
a0001c0001t0007g0228
a0001c0001t0007g0229
a0001c0001t0007g0260
a0001c0001t0012g0050
a0001c0001t0012g0262
a0001c0001t0013g0281
a0001c0001t0014g0027
a0001c0001t0015g0162
a0001c0001t0015g0181
a0001c0001t0016g0043
a0001c0001t0020g0076
a0001c0001t0021g0057
a0001c0001t0022g0082
a0001c0001t0031g0117
a0001c0001t0032g0176
a0001c0001t0034g0186
a0001c0007t0023g0279
a0001c0008t0006g0218
a0001c0009t0001g0094
a0005c0005t0001g0213
a0005c0005t0011g0046
a0005c0005t0011g0211
a0005c0005t0011g0212
 176 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(173): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00438.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp2
HG00738.hp2
HG00741.hp1
HG01070.hp1
HG01081.hp1
HG01081.hp2
HG01109.hp1
HG01167.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01243.hp1
HG01255.hp1
HG01256.hp2
HG01257.hp2
HG01261.hp1
HG01261.hp2
HG01358.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp2
HG01884.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01978.hp2
HG01981.hp1
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp2
HG02056.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02083.hp1
HG02129.hp1
HG02148.hp2
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02273.hp1
HG02280.hp1
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02451.hp2
HG02486.hp2
HG02615.hp1
HG02630.hp1
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03491.hp2
HG03492.hp1
HG03540.hp1
HG03669.hp1
HG03688.hp1
HG03704.hp2
HG03710.hp1
HG03834.hp1
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG04115.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
NA18612.hp1
NA18747.hp2
NA18939.hp2
NA18940.hp2
NA18942.hp2
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp2
NA18949.hp2
NA18950.hp2
NA18952.hp2
NA18953.hp1
NA18954.hp1
NA18956.hp1
NA18959.hp2
NA18960.hp1
NA18967.hp1
NA18967.hp2
NA18968.hp2
NA18970.hp2
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18975.hp1
NA18978.hp1
NA18979.hp2
NA18986.hp2
NA18992.hp1
NA18993.hp2
NA18995.hp1
NA18995.hp2
NA18997.hp1
NA18997.hp2
NA18998.hp2
NA18999.hp1
NA19001.hp1
NA19004.hp2
NA19006.hp2
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19054.hp2
NA19055.hp2
NA19056.hp2
NA19057.hp2
NA19058.hp2
NA19060.hp2
NA19062.hp2
NA19064.hp2
NA19066.hp1
NA19074.hp1
NA19077.hp2
NA19081.hp1
NA19082.hp2
NA19083.hp2
NA19084.hp2
NA19086.hp1
NA19087.hp2
NA19088.hp1
NA19090.hp1
NA19090.hp2
NA20752.hp2
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.125+1959G>A
c.125+1959G>A
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 2/13 chr8 18073582
chr8:18073608 C
C
 T
T
 95 a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0009
others(92): Show 
a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0102
a0001c0001t0001g0104
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0153
a0001c0001t0001g0158
a0001c0001t0001g0161
a0001c0001t0001g0167
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0187
a0001c0001t0001g0190
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0214
a0001c0001t0001g0226
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0001t0001g0256
a0001c0001t0001g0257
a0001c0001t0001g0259
a0001c0001t0001g0261
a0001c0001t0001g0278
a0001c0001t0001g0284
a0001c0001t0002g0042
a0001c0001t0002g0165
a0001c0001t0002g0166
a0001c0001t0002g0173
a0001c0001t0002g0188
a0001c0001t0002g0189
a0001c0001t0002g0191
a0001c0001t0002g0195
a0001c0001t0002g0200
a0001c0001t0002g0201
a0001c0001t0002g0216
a0001c0001t0002g0220
a0001c0001t0002g0235
a0001c0001t0003g0159
a0001c0001t0006g0047
a0001c0001t0006g0154
a0001c0001t0006g0215
a0001c0001t0006g0217
a0001c0001t0006g0221
a0001c0001t0006g0222
a0001c0001t0006g0224
a0001c0001t0006g0225
a0001c0001t0006g0227
a0001c0001t0012g0050
a0001c0001t0012g0262
a0001c0001t0013g0281
a0001c0001t0014g0027
a0001c0001t0015g0162
a0001c0001t0015g0181
a0001c0001t0016g0043
a0001c0001t0031g0117
a0001c0001t0032g0176
a0001c0001t0034g0186
a0001c0007t0023g0279
a0001c0008t0006g0218
a0001c0009t0001g0094
a0005c0005t0001g0213
a0005c0005t0011g0046
a0005c0005t0011g0211
a0005c0005t0011g0212
 139 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(136): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp2
HG00423.hp1
HG00597.hp2
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp2
HG00738.hp2
HG00741.hp1
HG01070.hp1
HG01081.hp1
HG01081.hp2
HG01109.hp1
HG01168.hp2
HG01169.hp2
HG01243.hp1
HG01255.hp1
HG01256.hp2
HG01261.hp2
HG01358.hp2
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01952.hp2
HG01975.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp2
HG02056.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02129.hp1
HG02148.hp2
HG02165.hp1
HG02257.hp2
HG02280.hp1
HG02451.hp2
HG02486.hp2
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03209.hp1
HG03209.hp2
HG03491.hp2
HG03492.hp1
HG03669.hp1
HG03688.hp1
HG03704.hp2
HG03710.hp1
HG03834.hp1
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG04184.hp1
HG04184.hp2
HG04228.hp2
NA18747.hp2
NA18939.hp2
NA18940.hp2
NA18942.hp2
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18947.hp2
NA18950.hp2
NA18952.hp2
NA18953.hp1
NA18954.hp1
NA18956.hp1
NA18959.hp2
NA18960.hp1
NA18967.hp1
NA18968.hp2
NA18970.hp2
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18975.hp1
NA18978.hp1
NA18979.hp2
NA18986.hp2
NA18992.hp1
NA18993.hp2
NA18995.hp2
NA18997.hp1
NA18997.hp2
NA18998.hp2
NA19001.hp1
NA19006.hp2
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19055.hp2
NA19056.hp2
NA19057.hp2
NA19058.hp2
NA19060.hp2
NA19062.hp2
NA19064.hp2
NA19066.hp1
NA19074.hp1
NA19077.hp2
NA19081.hp1
NA19082.hp2
NA19083.hp2
NA19084.hp2
NA19087.hp2
NA19088.hp1
NA19090.hp1
NA20752.hp2
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.125+1933G>A
c.125+1933G>A
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 2/13 chr8 18073608
chr8:18073702 G
G
 A
A
 3 a0002c0002t0003g0233
a0002c0002t0003g0250
a0002c0002t0003g0255
a0002c0002t0003g0233
a0002c0002t0003g0250
a0002c0002t0003g0255
 3 NA18979.hp1
NA19063.hp2
NA19067.hp1
NA18979.hp1
NA19063.hp2
NA19067.hp1
 intron_variant MODIFIER c.125+1839C>T
c.125+1839C>T
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 2/13 chr8 18073702
chr8:18073807 A
A
 G
G
 1 a0002c0002t0002g0151
a0002c0002t0002g0151
 1 NA18940.hp1
NA18940.hp1
 intron_variant MODIFIER c.125+1734T>C
c.125+1734T>C
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 2/13 chr8 18073807
chr8:18073931 T
T
 C
C
 31 a0001c0001t0001g0072
a0001c0001t0004g0010
a0001c0001t0004g0011
others(28): Show 
a0001c0001t0001g0072
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0029
a0001c0001t0004g0065
a0001c0001t0004g0066
a0001c0001t0004g0067
a0001c0001t0004g0068
a0001c0001t0004g0069
a0001c0001t0004g0070
a0001c0001t0004g0071
a0001c0001t0004g0079
a0001c0001t0004g0080
a0001c0001t0004g0081
a0001c0001t0004g0083
a0001c0001t0004g0084
a0001c0001t0004g0089
a0001c0001t0004g0090
a0001c0001t0007g0058
a0001c0001t0007g0064
a0001c0001t0007g0073
a0001c0001t0007g0074
a0001c0001t0007g0075
a0001c0001t0007g0077
a0001c0001t0007g0078
a0001c0001t0007g0228
a0001c0001t0007g0229
a0001c0001t0007g0260
a0001c0001t0020g0076
a0001c0001t0021g0057
a0001c0001t0022g0082
 38 HG00323.hp2
HG00438.hp2
HG01167.hp1
others(35): Show 
HG00323.hp2
HG00438.hp2
HG01167.hp1
HG01169.hp1
HG01257.hp2
HG01261.hp1
HG01361.hp1
HG01433.hp1
HG01496.hp1
HG01884.hp2
HG01952.hp1
HG02083.hp1
HG02257.hp1
HG02273.hp1
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02615.hp1
HG02630.hp1
HG03041.hp2
HG03195.hp1
HG03225.hp1
HG03540.hp1
HG04115.hp1
HG04204.hp1
HG06807.hp1
NA18612.hp1
NA18945.hp2
NA18949.hp2
NA18967.hp2
NA18972.hp1
NA18995.hp1
NA18999.hp1
NA19004.hp2
NA19043.hp1
NA19054.hp2
NA19086.hp1
NA19090.hp2
 intron_variant MODIFIER c.125+1610A>G
c.125+1610A>G
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 2/13 chr8 18073931
chr8:18073937 C
C
 T
T
 1 a0003c0003t0010g0283
a0003c0003t0010g0283
 1 HG01891.hp1
HG01891.hp1
 intron_variant MODIFIER c.125+1604G>A
c.125+1604G>A
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 2/13 chr8 18073937
chr8:18073965 T
T
 A
A
 4 a0002c0002t0002g0028
a0002c0002t0002g0055
a0002c0002t0002g0258
others(1): Show 
a0002c0002t0002g0028
a0002c0002t0002g0055
a0002c0002t0002g0258
a0002c0002t0033g0053
 5 HG02559.hp2
HG02965.hp1
HG03098.hp2
others(2): Show 
HG02559.hp2
HG02965.hp1
HG03098.hp2
HG03486.hp1
HG03486.hp2
 intron_variant MODIFIER c.125+1576A>T
c.125+1576A>T
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 2/13 chr8 18073965
chr8:18074027 A
A
 AG
AG
 37 a0001c0001t0001g0072
a0001c0001t0004g0010
a0001c0001t0004g0011
others(34): Show 
a0001c0001t0001g0072
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0029
a0001c0001t0004g0065
a0001c0001t0004g0066
a0001c0001t0004g0067
a0001c0001t0004g0068
a0001c0001t0004g0069
a0001c0001t0004g0070
a0001c0001t0004g0071
a0001c0001t0004g0079
a0001c0001t0004g0080
a0001c0001t0004g0081
a0001c0001t0004g0083
a0001c0001t0004g0084
a0001c0001t0004g0089
a0001c0001t0004g0090
a0001c0001t0007g0058
a0001c0001t0007g0064
a0001c0001t0007g0073
a0001c0001t0007g0074
a0001c0001t0007g0075
a0001c0001t0007g0077
a0001c0001t0007g0078
a0001c0001t0007g0228
a0001c0001t0007g0229
a0001c0001t0007g0260
a0001c0001t0013g0281
a0001c0001t0020g0076
a0001c0001t0021g0057
a0001c0001t0022g0082
a0001c0007t0023g0279
a0005c0005t0001g0213
a0005c0005t0011g0046
a0005c0005t0011g0211
a0005c0005t0011g0212
 45 HG00323.hp2
HG00438.hp2
HG01167.hp1
others(42): Show 
HG00323.hp2
HG00438.hp2
HG01167.hp1
HG01169.hp1
HG01257.hp2
HG01261.hp1
HG01361.hp1
HG01433.hp1
HG01496.hp1
HG01884.hp2
HG01952.hp1
HG02083.hp1
HG02257.hp1
HG02257.hp2
HG02273.hp1
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02615.hp1
HG02630.hp1
HG02698.hp1
HG02698.hp2
HG02976.hp2
HG03017.hp1
HG03041.hp2
HG03195.hp1
HG03225.hp1
HG03540.hp1
HG03834.hp1
HG04115.hp1
HG04204.hp1
HG04228.hp2
HG06807.hp1
NA18612.hp1
NA18945.hp2
NA18949.hp2
NA18967.hp2
NA18972.hp1
NA18995.hp1
NA18999.hp1
NA19004.hp2
NA19043.hp1
NA19054.hp2
NA19086.hp1
NA19090.hp2
 intron_variant MODIFIER c.125+1513dupC
c.125+1513dupC
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 2/13 chr8 18074027
chr8:18074055 G
G
 C
C
 1 a0002c0002t0004g0112
a0002c0002t0004g0112
 1 NA19057.hp1
NA19057.hp1
 intron_variant MODIFIER c.125+1486C>G
c.125+1486C>G
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 2/13 chr8 18074055
chr8:18074094 T
T
 G
G
 38 a0001c0001t0001g0072
a0001c0001t0004g0010
a0001c0001t0004g0011
others(35): Show 
a0001c0001t0001g0072
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0029
a0001c0001t0004g0065
a0001c0001t0004g0066
a0001c0001t0004g0067
a0001c0001t0004g0068
a0001c0001t0004g0069
a0001c0001t0004g0070
a0001c0001t0004g0071
a0001c0001t0004g0079
a0001c0001t0004g0080
a0001c0001t0004g0081
a0001c0001t0004g0083
a0001c0001t0004g0084
a0001c0001t0004g0089
a0001c0001t0004g0090
a0001c0001t0007g0058
a0001c0001t0007g0064
a0001c0001t0007g0073
a0001c0001t0007g0074
a0001c0001t0007g0075
a0001c0001t0007g0077
a0001c0001t0007g0078
a0001c0001t0007g0228
a0001c0001t0007g0229
a0001c0001t0007g0260
a0001c0001t0013g0281
a0001c0001t0020g0076
a0001c0001t0021g0057
a0001c0001t0022g0082
a0001c0007t0023g0279
a0003c0003t0013g0271
a0005c0005t0001g0213
a0005c0005t0011g0046
a0005c0005t0011g0211
a0005c0005t0011g0212
 46 HG00323.hp2
HG00438.hp2
HG01167.hp1
others(43): Show 
HG00323.hp2
HG00438.hp2
HG01167.hp1
HG01169.hp1
HG01257.hp2
HG01261.hp1
HG01361.hp1
HG01433.hp1
HG01496.hp1
HG01884.hp2
HG01952.hp1
HG02083.hp1
HG02257.hp1
HG02257.hp2
HG02273.hp1
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02451.hp1
HG02615.hp1
HG02630.hp1
HG02698.hp1
HG02698.hp2
HG02976.hp2
HG03017.hp1
HG03041.hp2
HG03195.hp1
HG03225.hp1
HG03540.hp1
HG03834.hp1
HG04115.hp1
HG04204.hp1
HG04228.hp2
HG06807.hp1
NA18612.hp1
NA18945.hp2
NA18949.hp2
NA18967.hp2
NA18972.hp1
NA18995.hp1
NA18999.hp1
NA19004.hp2
NA19043.hp1
NA19054.hp2
NA19086.hp1
NA19090.hp2
 intron_variant MODIFIER c.125+1447A>C
c.125+1447A>C
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 2/13 chr8 18074094
chr8:18074195 C
C
 T
T
 137 a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0009
others(134): Show 
a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0104
a0001c0001t0001g0123
a0001c0001t0001g0153
a0001c0001t0001g0158
a0001c0001t0001g0161
a0001c0001t0001g0167
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0187
a0001c0001t0001g0190
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0214
a0001c0001t0001g0226
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0001t0001g0256
a0001c0001t0001g0257
a0001c0001t0001g0259
a0001c0001t0001g0261
a0001c0001t0001g0278
a0001c0001t0001g0284
a0001c0001t0002g0042
a0001c0001t0002g0165
a0001c0001t0002g0166
a0001c0001t0002g0173
a0001c0001t0002g0188
a0001c0001t0002g0189
a0001c0001t0002g0191
a0001c0001t0002g0195
a0001c0001t0002g0200
a0001c0001t0002g0201
a0001c0001t0002g0216
a0001c0001t0002g0220
a0001c0001t0002g0235
a0001c0001t0003g0159
a0001c0001t0006g0047
a0001c0001t0006g0154
a0001c0001t0006g0215
a0001c0001t0006g0217
a0001c0001t0006g0221
a0001c0001t0006g0222
a0001c0001t0006g0224
a0001c0001t0006g0225
a0001c0001t0006g0227
a0001c0001t0012g0050
a0001c0001t0012g0262
a0001c0001t0014g0027
a0001c0001t0015g0162
a0001c0001t0015g0181
a0001c0001t0016g0043
a0001c0001t0031g0117
a0001c0001t0032g0176
a0001c0001t0034g0186
a0001c0008t0006g0218
a0001c0009t0001g0094
a0002c0002t0001g0013
a0002c0002t0001g0032
a0002c0002t0001g0136
a0002c0002t0001g0150
a0002c0002t0002g0001
a0002c0002t0002g0008
a0002c0002t0002g0017
a0002c0002t0002g0018
a0002c0002t0002g0021
a0002c0002t0002g0028
a0002c0002t0002g0034
a0002c0002t0002g0035
a0002c0002t0002g0036
a0002c0002t0002g0037
a0002c0002t0002g0038
a0002c0002t0002g0039
a0002c0002t0002g0055
a0002c0002t0002g0092
a0002c0002t0002g0093
a0002c0002t0002g0099
a0002c0002t0002g0100
a0002c0002t0002g0120
a0002c0002t0002g0131
a0002c0002t0002g0132
a0002c0002t0002g0133
a0002c0002t0002g0135
a0002c0002t0002g0137
a0002c0002t0002g0138
a0002c0002t0002g0139
a0002c0002t0002g0140
a0002c0002t0002g0141
a0002c0002t0002g0142
a0002c0002t0002g0143
a0002c0002t0002g0144
a0002c0002t0002g0145
a0002c0002t0002g0146
a0002c0002t0002g0148
a0002c0002t0002g0149
a0002c0002t0002g0151
a0002c0002t0002g0152
a0002c0002t0002g0155
a0002c0002t0002g0156
a0002c0002t0002g0157
a0002c0002t0002g0196
a0002c0002t0002g0209
a0002c0002t0002g0258
a0002c0002t0002g0285
a0002c0002t0006g0147
a0002c0002t0033g0053
a0002c0002t0035g0286
 217 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(214): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00423.hp1
HG00597.hp2
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01358.hp2
HG01361.hp2
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01952.hp2
HG01975.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02148.hp2
HG02165.hp1
HG02273.hp2
HG02280.hp1
HG02300.hp2
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp2
HG02615.hp2
HG02622.hp1
HG02683.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03017.hp2
HG03098.hp2
HG03209.hp1
HG03209.hp2
HG03239.hp1
HG03486.hp1
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03704.hp2
HG03710.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04184.hp2
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18942.hp1
NA18942.hp2
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18947.hp2
NA18950.hp2
NA18953.hp1
NA18954.hp1
NA18956.hp1
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18963.hp1
NA18965.hp1
NA18966.hp2
NA18967.hp1
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18978.hp1
NA18979.hp2
NA18981.hp1
NA18982.hp2
NA18983.hp1
NA18984.hp2
NA18986.hp2
NA18992.hp1
NA18993.hp1
NA18993.hp2
NA18995.hp2
NA18997.hp1
NA18997.hp2
NA18998.hp2
NA19001.hp1
NA19006.hp2
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19054.hp1
NA19055.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp2
NA19058.hp1
NA19058.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp2
NA19063.hp1
NA19064.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp2
NA19068.hp2
NA19074.hp1
NA19076.hp2
NA19077.hp1
NA19077.hp2
NA19081.hp1
NA19082.hp2
NA19083.hp2
NA19084.hp2
NA19086.hp2
NA19087.hp2
NA19088.hp1
NA19090.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.125+1346G>A
c.125+1346G>A
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 2/13 chr8 18074195
chr8:18074196 A
A
 T
T
 37 a0001c0001t0001g0072
a0001c0001t0004g0010
a0001c0001t0004g0011
others(34): Show 
a0001c0001t0001g0072
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0029
a0001c0001t0004g0065
a0001c0001t0004g0066
a0001c0001t0004g0067
a0001c0001t0004g0068
a0001c0001t0004g0069
a0001c0001t0004g0070
a0001c0001t0004g0071
a0001c0001t0004g0079
a0001c0001t0004g0080
a0001c0001t0004g0081
a0001c0001t0004g0083
a0001c0001t0004g0084
a0001c0001t0004g0089
a0001c0001t0004g0090
a0001c0001t0007g0058
a0001c0001t0007g0064
a0001c0001t0007g0073
a0001c0001t0007g0074
a0001c0001t0007g0075
a0001c0001t0007g0077
a0001c0001t0007g0078
a0001c0001t0007g0228
a0001c0001t0007g0229
a0001c0001t0007g0260
a0001c0001t0013g0281
a0001c0001t0020g0076
a0001c0001t0021g0057
a0001c0001t0022g0082
a0001c0007t0023g0279
a0005c0005t0001g0213
a0005c0005t0011g0046
a0005c0005t0011g0211
a0005c0005t0011g0212
 45 HG00323.hp2
HG00438.hp2
HG01167.hp1
others(42): Show 
HG00323.hp2
HG00438.hp2
HG01167.hp1
HG01169.hp1
HG01257.hp2
HG01261.hp1
HG01361.hp1
HG01433.hp1
HG01496.hp1
HG01884.hp2
HG01952.hp1
HG02083.hp1
HG02257.hp1
HG02257.hp2
HG02273.hp1
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02615.hp1
HG02630.hp1
HG02698.hp1
HG02698.hp2
HG02976.hp2
HG03017.hp1
HG03041.hp2
HG03195.hp1
HG03225.hp1
HG03540.hp1
HG03834.hp1
HG04115.hp1
HG04204.hp1
HG04228.hp2
HG06807.hp1
NA18612.hp1
NA18945.hp2
NA18949.hp2
NA18967.hp2
NA18972.hp1
NA18995.hp1
NA18999.hp1
NA19004.hp2
NA19043.hp1
NA19054.hp2
NA19086.hp1
NA19090.hp2
 intron_variant MODIFIER c.125+1345T>A
c.125+1345T>A
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 2/13 chr8 18074196
chr8:18074225 C
C
 G
G
 1 a0001c0001t0002g0165
a0001c0001t0002g0165
 1 HG01081.hp2
HG01081.hp2
 intron_variant MODIFIER c.125+1316G>C
c.125+1316G>C
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 2/13 chr8 18074225
chr8:18074252 G
G
 A
A
 37 a0001c0001t0001g0072
a0001c0001t0004g0010
a0001c0001t0004g0011
others(34): Show 
a0001c0001t0001g0072
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0029
a0001c0001t0004g0065
a0001c0001t0004g0066
a0001c0001t0004g0067
a0001c0001t0004g0068
a0001c0001t0004g0069
a0001c0001t0004g0070
a0001c0001t0004g0071
a0001c0001t0004g0079
a0001c0001t0004g0080
a0001c0001t0004g0081
a0001c0001t0004g0083
a0001c0001t0004g0084
a0001c0001t0004g0089
a0001c0001t0004g0090
a0001c0001t0007g0058
a0001c0001t0007g0064
a0001c0001t0007g0073
a0001c0001t0007g0074
a0001c0001t0007g0075
a0001c0001t0007g0077
a0001c0001t0007g0078
a0001c0001t0007g0228
a0001c0001t0007g0229
a0001c0001t0007g0260
a0001c0001t0013g0281
a0001c0001t0020g0076
a0001c0001t0021g0057
a0001c0001t0022g0082
a0001c0007t0023g0279
a0005c0005t0001g0213
a0005c0005t0011g0046
a0005c0005t0011g0211
a0005c0005t0011g0212
 45 HG00323.hp2
HG00438.hp2
HG01167.hp1
others(42): Show 
HG00323.hp2
HG00438.hp2
HG01167.hp1
HG01169.hp1
HG01257.hp2
HG01261.hp1
HG01361.hp1
HG01433.hp1
HG01496.hp1
HG01884.hp2
HG01952.hp1
HG02083.hp1
HG02257.hp1
HG02257.hp2
HG02273.hp1
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02615.hp1
HG02630.hp1
HG02698.hp1
HG02698.hp2
HG02976.hp2
HG03017.hp1
HG03041.hp2
HG03195.hp1
HG03225.hp1
HG03540.hp1
HG03834.hp1
HG04115.hp1
HG04204.hp1
HG04228.hp2
HG06807.hp1
NA18612.hp1
NA18945.hp2
NA18949.hp2
NA18967.hp2
NA18972.hp1
NA18995.hp1
NA18999.hp1
NA19004.hp2
NA19043.hp1
NA19054.hp2
NA19086.hp1
NA19090.hp2
 intron_variant MODIFIER c.125+1289C>T
c.125+1289C>T
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 2/13 chr8 18074252
chr8:18074273 C
C
 G
G
 10 a0002c0002t0018g0270
a0002c0002t0025g0054
a0003c0003t0001g0051
others(7): Show 
a0002c0002t0018g0270
a0002c0002t0025g0054
a0003c0003t0001g0051
a0003c0003t0001g0269
a0003c0003t0009g0014
a0003c0003t0009g0062
a0003c0003t0009g0198
a0003c0003t0009g0199
a0003c0003t0009g0219
a0003c0003t0017g0272
 14 HG02109.hp2
HG02647.hp2
HG02683.hp2
others(11): Show 
HG02109.hp2
HG02647.hp2
HG02683.hp2
HG02723.hp1
HG02735.hp2
HG02818.hp1
HG02896.hp1
HG02897.hp2
HG03453.hp2
HG03540.hp2
HG03710.hp2
HG04228.hp1
NA19240.hp1
NA21309.hp2
 intron_variant MODIFIER c.125+1268G>C
c.125+1268G>C
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 2/13 chr8 18074273
chr8:18074296 A
A
 AAC
AAC
 37 a0001c0001t0001g0072
a0001c0001t0004g0010
a0001c0001t0004g0011
others(34): Show 
a0001c0001t0001g0072
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0029
a0001c0001t0004g0065
a0001c0001t0004g0066
a0001c0001t0004g0067
a0001c0001t0004g0068
a0001c0001t0004g0069
a0001c0001t0004g0070
a0001c0001t0004g0071
a0001c0001t0004g0079
a0001c0001t0004g0080
a0001c0001t0004g0081
a0001c0001t0004g0083
a0001c0001t0004g0084
a0001c0001t0004g0089
a0001c0001t0004g0090
a0001c0001t0007g0058
a0001c0001t0007g0064
a0001c0001t0007g0073
a0001c0001t0007g0074
a0001c0001t0007g0075
a0001c0001t0007g0077
a0001c0001t0007g0078
a0001c0001t0007g0228
a0001c0001t0007g0229
a0001c0001t0007g0260
a0001c0001t0013g0281
a0001c0001t0020g0076
a0001c0001t0021g0057
a0001c0001t0022g0082
a0001c0007t0023g0279
a0005c0005t0001g0213
a0005c0005t0011g0046
a0005c0005t0011g0211
a0005c0005t0011g0212
 45 HG00323.hp2
HG00438.hp2
HG01167.hp1
others(42): Show 
HG00323.hp2
HG00438.hp2
HG01167.hp1
HG01169.hp1
HG01257.hp2
HG01261.hp1
HG01361.hp1
HG01433.hp1
HG01496.hp1
HG01884.hp2
HG01952.hp1
HG02083.hp1
HG02257.hp1
HG02257.hp2
HG02273.hp1
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02615.hp1
HG02630.hp1
HG02698.hp1
HG02698.hp2
HG02976.hp2
HG03017.hp1
HG03041.hp2
HG03195.hp1
HG03225.hp1
HG03540.hp1
HG03834.hp1
HG04115.hp1
HG04204.hp1
HG04228.hp2
HG06807.hp1
NA18612.hp1
NA18945.hp2
NA18949.hp2
NA18967.hp2
NA18972.hp1
NA18995.hp1
NA18999.hp1
NA19004.hp2
NA19043.hp1
NA19054.hp2
NA19086.hp1
NA19090.hp2
 intron_variant MODIFIER c.125+1243_125+1244d
others(4): Show 
c.125+1243_125+1244dupGT
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 2/13 chr8 18074296
chr8:18074379 G
G
 A
A
 1 a0001c0001t0002g0216
a0001c0001t0002g0216
 1 HG03209.hp2
HG03209.hp2
 intron_variant MODIFIER c.125+1162C>T
c.125+1162C>T
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 2/13 chr8 18074379
chr8:18074391 AACTT
AACTT
 A
A
 37 a0001c0001t0001g0072
a0001c0001t0004g0010
a0001c0001t0004g0011
others(34): Show 
a0001c0001t0001g0072
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0029
a0001c0001t0004g0065
a0001c0001t0004g0066
a0001c0001t0004g0067
a0001c0001t0004g0068
a0001c0001t0004g0069
a0001c0001t0004g0070
a0001c0001t0004g0071
a0001c0001t0004g0079
a0001c0001t0004g0080
a0001c0001t0004g0081
a0001c0001t0004g0083
a0001c0001t0004g0084
a0001c0001t0004g0089
a0001c0001t0004g0090
a0001c0001t0007g0058
a0001c0001t0007g0064
a0001c0001t0007g0073
a0001c0001t0007g0074
a0001c0001t0007g0075
a0001c0001t0007g0077
a0001c0001t0007g0078
a0001c0001t0007g0228
a0001c0001t0007g0229
a0001c0001t0007g0260
a0001c0001t0013g0281
a0001c0001t0020g0076
a0001c0001t0021g0057
a0001c0001t0022g0082
a0001c0007t0023g0279
a0005c0005t0001g0213
a0005c0005t0011g0046
a0005c0005t0011g0211
a0005c0005t0011g0212
 45 HG00323.hp2
HG00438.hp2
HG01167.hp1
others(42): Show 
HG00323.hp2
HG00438.hp2
HG01167.hp1
HG01169.hp1
HG01257.hp2
HG01261.hp1
HG01361.hp1
HG01433.hp1
HG01496.hp1
HG01884.hp2
HG01952.hp1
HG02083.hp1
HG02257.hp1
HG02257.hp2
HG02273.hp1
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02615.hp1
HG02630.hp1
HG02698.hp1
HG02698.hp2
HG02976.hp2
HG03017.hp1
HG03041.hp2
HG03195.hp1
HG03225.hp1
HG03540.hp1
HG03834.hp1
HG04115.hp1
HG04204.hp1
HG04228.hp2
HG06807.hp1
NA18612.hp1
NA18945.hp2
NA18949.hp2
NA18967.hp2
NA18972.hp1
NA18995.hp1
NA18999.hp1
NA19004.hp2
NA19043.hp1
NA19054.hp2
NA19086.hp1
NA19090.hp2
 intron_variant MODIFIER c.125+1146_125+1149d
others(6): Show 
c.125+1146_125+1149delAAGT
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 2/13 chr8 18074391
chr8:18074397 G
G
 T
T
 37 a0001c0001t0001g0072
a0001c0001t0004g0010
a0001c0001t0004g0011
others(34): Show 
a0001c0001t0001g0072
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0029
a0001c0001t0004g0065
a0001c0001t0004g0066
a0001c0001t0004g0067
a0001c0001t0004g0068
a0001c0001t0004g0069
a0001c0001t0004g0070
a0001c0001t0004g0071
a0001c0001t0004g0079
a0001c0001t0004g0080
a0001c0001t0004g0081
a0001c0001t0004g0083
a0001c0001t0004g0084
a0001c0001t0004g0089
a0001c0001t0004g0090
a0001c0001t0007g0058
a0001c0001t0007g0064
a0001c0001t0007g0073
a0001c0001t0007g0074
a0001c0001t0007g0075
a0001c0001t0007g0077
a0001c0001t0007g0078
a0001c0001t0007g0228
a0001c0001t0007g0229
a0001c0001t0007g0260
a0001c0001t0013g0281
a0001c0001t0020g0076
a0001c0001t0021g0057
a0001c0001t0022g0082
a0001c0007t0023g0279
a0005c0005t0001g0213
a0005c0005t0011g0046
a0005c0005t0011g0211
a0005c0005t0011g0212
 45 HG00323.hp2
HG00438.hp2
HG01167.hp1
others(42): Show 
HG00323.hp2
HG00438.hp2
HG01167.hp1
HG01169.hp1
HG01257.hp2
HG01261.hp1
HG01361.hp1
HG01433.hp1
HG01496.hp1
HG01884.hp2
HG01952.hp1
HG02083.hp1
HG02257.hp1
HG02257.hp2
HG02273.hp1
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02615.hp1
HG02630.hp1
HG02698.hp1
HG02698.hp2
HG02976.hp2
HG03017.hp1
HG03041.hp2
HG03195.hp1
HG03225.hp1
HG03540.hp1
HG03834.hp1
HG04115.hp1
HG04204.hp1
HG04228.hp2
HG06807.hp1
NA18612.hp1
NA18945.hp2
NA18949.hp2
NA18967.hp2
NA18972.hp1
NA18995.hp1
NA18999.hp1
NA19004.hp2
NA19043.hp1
NA19054.hp2
NA19086.hp1
NA19090.hp2
 intron_variant MODIFIER c.125+1144C>A
c.125+1144C>A
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 2/13 chr8 18074397
chr8:18074401 A
A
 G
G
 31 a0001c0001t0001g0072
a0001c0001t0004g0010
a0001c0001t0004g0011
others(28): Show 
a0001c0001t0001g0072
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0029
a0001c0001t0004g0065
a0001c0001t0004g0066
a0001c0001t0004g0067
a0001c0001t0004g0068
a0001c0001t0004g0069
a0001c0001t0004g0070
a0001c0001t0004g0071
a0001c0001t0004g0079
a0001c0001t0004g0080
a0001c0001t0004g0081
a0001c0001t0004g0083
a0001c0001t0004g0084
a0001c0001t0004g0089
a0001c0001t0004g0090
a0001c0001t0007g0058
a0001c0001t0007g0064
a0001c0001t0007g0073
a0001c0001t0007g0074
a0001c0001t0007g0075
a0001c0001t0007g0077
a0001c0001t0007g0078
a0001c0001t0007g0228
a0001c0001t0007g0229
a0001c0001t0007g0260
a0001c0001t0020g0076
a0001c0001t0021g0057
a0001c0001t0022g0082
 38 HG00323.hp2
HG00438.hp2
HG01167.hp1
others(35): Show 
HG00323.hp2
HG00438.hp2
HG01167.hp1
HG01169.hp1
HG01257.hp2
HG01261.hp1
HG01361.hp1
HG01433.hp1
HG01496.hp1
HG01884.hp2
HG01952.hp1
HG02083.hp1
HG02257.hp1
HG02273.hp1
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02615.hp1
HG02630.hp1
HG03041.hp2
HG03195.hp1
HG03225.hp1
HG03540.hp1
HG04115.hp1
HG04204.hp1
HG06807.hp1
NA18612.hp1
NA18945.hp2
NA18949.hp2
NA18967.hp2
NA18972.hp1
NA18995.hp1
NA18999.hp1
NA19004.hp2
NA19043.hp1
NA19054.hp2
NA19086.hp1
NA19090.hp2
 intron_variant MODIFIER c.125+1140T>C
c.125+1140T>C
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 2/13 chr8 18074401
chr8:18074468 C
C
 A
A
 1 a0001c0007t0023g0279
a0001c0007t0023g0279
 1 HG02257.hp2
HG02257.hp2
 intron_variant MODIFIER c.125+1073G>T
c.125+1073G>T
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 2/13 chr8 18074468
chr8:18074491 C
C
 T
T
 1 a0001c0001t0001g0170
a0001c0001t0001g0170
 1 HG02723.hp2
HG02723.hp2
 intron_variant MODIFIER c.125+1050G>A
c.125+1050G>A
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 2/13 chr8 18074491
chr8:18074497 G
G
 A
A
 37 a0001c0001t0001g0072
a0001c0001t0004g0010
a0001c0001t0004g0011
others(34): Show 
a0001c0001t0001g0072
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0029
a0001c0001t0004g0065
a0001c0001t0004g0066
a0001c0001t0004g0067
a0001c0001t0004g0068
a0001c0001t0004g0069
a0001c0001t0004g0070
a0001c0001t0004g0071
a0001c0001t0004g0079
a0001c0001t0004g0080
a0001c0001t0004g0081
a0001c0001t0004g0083
a0001c0001t0004g0084
a0001c0001t0004g0089
a0001c0001t0004g0090
a0001c0001t0007g0058
a0001c0001t0007g0064
a0001c0001t0007g0073
a0001c0001t0007g0074
a0001c0001t0007g0075
a0001c0001t0007g0077
a0001c0001t0007g0078
a0001c0001t0007g0228
a0001c0001t0007g0229
a0001c0001t0007g0260
a0001c0001t0013g0281
a0001c0001t0020g0076
a0001c0001t0021g0057
a0001c0001t0022g0082
a0001c0007t0023g0279
a0005c0005t0001g0213
a0005c0005t0011g0046
a0005c0005t0011g0211
a0005c0005t0011g0212
 45 HG00323.hp2
HG00438.hp2
HG01167.hp1
others(42): Show 
HG00323.hp2
HG00438.hp2
HG01167.hp1
HG01169.hp1
HG01257.hp2
HG01261.hp1
HG01361.hp1
HG01433.hp1
HG01496.hp1
HG01884.hp2
HG01952.hp1
HG02083.hp1
HG02257.hp1
HG02257.hp2
HG02273.hp1
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02615.hp1
HG02630.hp1
HG02698.hp1
HG02698.hp2
HG02976.hp2
HG03017.hp1
HG03041.hp2
HG03195.hp1
HG03225.hp1
HG03540.hp1
HG03834.hp1
HG04115.hp1
HG04204.hp1
HG04228.hp2
HG06807.hp1
NA18612.hp1
NA18945.hp2
NA18949.hp2
NA18967.hp2
NA18972.hp1
NA18995.hp1
NA18999.hp1
NA19004.hp2
NA19043.hp1
NA19054.hp2
NA19086.hp1
NA19090.hp2
 intron_variant MODIFIER c.125+1044C>T
c.125+1044C>T
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 2/13 chr8 18074497
chr8:18074528 T
T
 C
C
 37 a0001c0001t0001g0072
a0001c0001t0004g0010
a0001c0001t0004g0011
others(34): Show 
a0001c0001t0001g0072
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0029
a0001c0001t0004g0065
a0001c0001t0004g0066
a0001c0001t0004g0067
a0001c0001t0004g0068
a0001c0001t0004g0069
a0001c0001t0004g0070
a0001c0001t0004g0071
a0001c0001t0004g0079
a0001c0001t0004g0080
a0001c0001t0004g0081
a0001c0001t0004g0083
a0001c0001t0004g0084
a0001c0001t0004g0089
a0001c0001t0004g0090
a0001c0001t0007g0058
a0001c0001t0007g0064
a0001c0001t0007g0073
a0001c0001t0007g0074
a0001c0001t0007g0075
a0001c0001t0007g0077
a0001c0001t0007g0078
a0001c0001t0007g0228
a0001c0001t0007g0229
a0001c0001t0007g0260
a0001c0001t0013g0281
a0001c0001t0020g0076
a0001c0001t0021g0057
a0001c0001t0022g0082
a0001c0007t0023g0279
a0005c0005t0001g0213
a0005c0005t0011g0046
a0005c0005t0011g0211
a0005c0005t0011g0212
 45 HG00323.hp2
HG00438.hp2
HG01167.hp1
others(42): Show 
HG00323.hp2
HG00438.hp2
HG01167.hp1
HG01169.hp1
HG01257.hp2
HG01261.hp1
HG01361.hp1
HG01433.hp1
HG01496.hp1
HG01884.hp2
HG01952.hp1
HG02083.hp1
HG02257.hp1
HG02257.hp2
HG02273.hp1
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02615.hp1
HG02630.hp1
HG02698.hp1
HG02698.hp2
HG02976.hp2
HG03017.hp1
HG03041.hp2
HG03195.hp1
HG03225.hp1
HG03540.hp1
HG03834.hp1
HG04115.hp1
HG04204.hp1
HG04228.hp2
HG06807.hp1
NA18612.hp1
NA18945.hp2
NA18949.hp2
NA18967.hp2
NA18972.hp1
NA18995.hp1
NA18999.hp1
NA19004.hp2
NA19043.hp1
NA19054.hp2
NA19086.hp1
NA19090.hp2
 intron_variant MODIFIER c.125+1013A>G
c.125+1013A>G
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 2/13 chr8 18074528
chr8:18074879 G
G
 A
A
 5 a0002c0002t0001g0013
a0002c0002t0001g0032
a0002c0002t0001g0136
others(2): Show 
a0002c0002t0001g0013
a0002c0002t0001g0032
a0002c0002t0001g0136
a0002c0002t0001g0150
a0002c0002t0035g0286
 9 HG02080.hp2
NA18941.hp1
NA18965.hp1
others(6): Show 
HG02080.hp2
NA18941.hp1
NA18965.hp1
NA18970.hp1
NA18981.hp1
NA18982.hp2
NA18983.hp1
NA19068.hp2
NA19076.hp2
 intron_variant MODIFIER c.125+662C>T
c.125+662C>T
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 2/13 chr8 18074879
chr8:18074907 A
A
 T
T
 1 a0001c0001t0001g0169
a0001c0001t0001g0169
 1 HG01928.hp1
HG01928.hp1
 intron_variant MODIFIER c.125+634T>A
c.125+634T>A
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 2/13 chr8 18074907
chr8:18074967 G
G
 C
C
 1 a0001c0001t0001g0197
a0001c0001t0001g0197
 1 NA19087.hp2
NA19087.hp2
 intron_variant MODIFIER c.125+574C>G
c.125+574C>G
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 2/13 chr8 18074967
chr8:18074983 G
G
 A
A
 1 a0001c0001t0014g0027
a0001c0001t0014g0027
 2 HG02895.hp2
HG02897.hp1
HG02895.hp2
HG02897.hp1
 intron_variant MODIFIER c.125+558C>T
c.125+558C>T
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 2/13 chr8 18074983
chr8:18074986 G
G
 C
C
 1 a0001c0001t0001g0197
a0001c0001t0001g0197
 1 NA19087.hp2
NA19087.hp2
 intron_variant MODIFIER c.125+555C>G
c.125+555C>G
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 2/13 chr8 18074986
chr8:18075001 C
C
 CTTTTTTT
others(7): Show 
CTTTTTTTTTTTTTT
 27 a0001c0001t0001g0072
a0001c0001t0004g0010
a0001c0001t0004g0011
others(24): Show 
a0001c0001t0001g0072
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0029
a0001c0001t0004g0069
a0001c0001t0004g0070
a0001c0001t0004g0071
a0001c0001t0004g0079
a0001c0001t0004g0080
a0001c0001t0004g0081
a0001c0001t0004g0083
a0001c0001t0004g0084
a0001c0001t0004g0089
a0001c0001t0004g0090
a0001c0001t0007g0058
a0001c0001t0007g0064
a0001c0001t0007g0073
a0001c0001t0007g0074
a0001c0001t0007g0075
a0001c0001t0007g0077
a0001c0001t0007g0078
a0001c0001t0007g0228
a0001c0001t0007g0229
a0001c0001t0007g0260
a0001c0001t0020g0076
a0001c0001t0021g0057
a0001c0001t0022g0082
 34 HG00323.hp2
HG01167.hp1
HG01169.hp1
others(31): Show 
HG00323.hp2
HG01167.hp1
HG01169.hp1
HG01257.hp2
HG01261.hp1
HG01361.hp1
HG01433.hp1
HG01496.hp1
HG01884.hp2
HG01952.hp1
HG02083.hp1
HG02257.hp1
HG02273.hp1
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02615.hp1
HG02630.hp1
HG03041.hp2
HG03195.hp1
HG03225.hp1
HG03540.hp1
HG04115.hp1
HG04204.hp1
HG06807.hp1
NA18612.hp1
NA18945.hp2
NA18972.hp1
NA18995.hp1
NA18999.hp1
NA19004.hp2
NA19043.hp1
NA19054.hp2
NA19086.hp1
 intron_variant MODIFIER c.125+539_125+540ins
others(14): Show 
c.125+539_125+540insAAAAAAAAAAAAAA
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 2/13 chr8 18075001
chr8:18075001 C
C
 CTTTTTTT
others(8): Show 
CTTTTTTTTTTTTTTT
 4 a0001c0001t0004g0065
a0001c0001t0004g0066
a0001c0001t0004g0067
others(1): Show 
a0001c0001t0004g0065
a0001c0001t0004g0066
a0001c0001t0004g0067
a0001c0001t0004g0068
 4 HG00438.hp2
NA18949.hp2
NA18967.hp2
others(1): Show 
HG00438.hp2
NA18949.hp2
NA18967.hp2
NA19090.hp2
 intron_variant MODIFIER c.125+539_125+540ins
others(15): Show 
c.125+539_125+540insAAAAAAAAAAAAAAA
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 2/13 chr8 18075001
chr8:18075001 C
C
 CTTTTTTT
others(11): Show 
CTTTTTTTTTTTTTTTTTT
 3 a0005c0005t0001g0213
a0005c0005t0011g0046
a0005c0005t0011g0212
a0005c0005t0001g0213
a0005c0005t0011g0046
a0005c0005t0011g0212
 4 HG02698.hp1
HG02698.hp2
HG03834.hp1
others(1): Show 
HG02698.hp1
HG02698.hp2
HG03834.hp1
HG04228.hp2
 intron_variant MODIFIER c.125+539_125+540ins
others(18): Show 
c.125+539_125+540insAAAAAAAAAAAAAAAAAA
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 2/13 chr8 18075001
chr8:18075001 C
C
 CTTTTTTT
others(12): Show 
CTTTTTTTTTTTTTTTTTTT
 1 a0005c0005t0011g0211
a0005c0005t0011g0211
 1 HG03017.hp1
HG03017.hp1
 intron_variant MODIFIER c.125+539_125+540ins
others(19): Show 
c.125+539_125+540insAAAAAAAAAAAAAAAAAAA
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 2/13 chr8 18075001
chr8:18075002 C
C
 T
T
 35 a0001c0001t0001g0072
a0001c0001t0004g0010
a0001c0001t0004g0011
others(32): Show 
a0001c0001t0001g0072
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0029
a0001c0001t0004g0065
a0001c0001t0004g0066
a0001c0001t0004g0067
a0001c0001t0004g0068
a0001c0001t0004g0069
a0001c0001t0004g0070
a0001c0001t0004g0071
a0001c0001t0004g0079
a0001c0001t0004g0080
a0001c0001t0004g0081
a0001c0001t0004g0083
a0001c0001t0004g0084
a0001c0001t0004g0089
a0001c0001t0004g0090
a0001c0001t0007g0058
a0001c0001t0007g0064
a0001c0001t0007g0073
a0001c0001t0007g0074
a0001c0001t0007g0075
a0001c0001t0007g0077
a0001c0001t0007g0078
a0001c0001t0007g0228
a0001c0001t0007g0229
a0001c0001t0007g0260
a0001c0001t0020g0076
a0001c0001t0021g0057
a0001c0001t0022g0082
a0005c0005t0001g0213
a0005c0005t0011g0046
a0005c0005t0011g0211
a0005c0005t0011g0212
 43 HG00323.hp2
HG00438.hp2
HG01167.hp1
others(40): Show 
HG00323.hp2
HG00438.hp2
HG01167.hp1
HG01169.hp1
HG01257.hp2
HG01261.hp1
HG01361.hp1
HG01433.hp1
HG01496.hp1
HG01884.hp2
HG01952.hp1
HG02083.hp1
HG02257.hp1
HG02273.hp1
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02615.hp1
HG02630.hp1
HG02698.hp1
HG02698.hp2
HG03017.hp1
HG03041.hp2
HG03195.hp1
HG03225.hp1
HG03540.hp1
HG03834.hp1
HG04115.hp1
HG04204.hp1
HG04228.hp2
HG06807.hp1
NA18612.hp1
NA18945.hp2
NA18949.hp2
NA18967.hp2
NA18972.hp1
NA18995.hp1
NA18999.hp1
NA19004.hp2
NA19043.hp1
NA19054.hp2
NA19086.hp1
NA19090.hp2
 intron_variant MODIFIER c.125+539G>A
c.125+539G>A
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 2/13 chr8 18075002
chr8:18075020 G
G
 T
T
 35 a0001c0001t0001g0072
a0001c0001t0004g0010
a0001c0001t0004g0011
others(32): Show 
a0001c0001t0001g0072
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0029
a0001c0001t0004g0065
a0001c0001t0004g0066
a0001c0001t0004g0067
a0001c0001t0004g0068
a0001c0001t0004g0069
a0001c0001t0004g0070
a0001c0001t0004g0071
a0001c0001t0004g0079
a0001c0001t0004g0080
a0001c0001t0004g0081
a0001c0001t0004g0083
a0001c0001t0004g0084
a0001c0001t0004g0089
a0001c0001t0004g0090
a0001c0001t0007g0058
a0001c0001t0007g0064
a0001c0001t0007g0073
a0001c0001t0007g0074
a0001c0001t0007g0075
a0001c0001t0007g0077
a0001c0001t0007g0078
a0001c0001t0007g0228
a0001c0001t0007g0229
a0001c0001t0007g0260
a0001c0001t0020g0076
a0001c0001t0021g0057
a0001c0001t0022g0082
a0005c0005t0001g0213
a0005c0005t0011g0046
a0005c0005t0011g0211
a0005c0005t0011g0212
 43 HG00323.hp2
HG00438.hp2
HG01167.hp1
others(40): Show 
HG00323.hp2
HG00438.hp2
HG01167.hp1
HG01169.hp1
HG01257.hp2
HG01261.hp1
HG01361.hp1
HG01433.hp1
HG01496.hp1
HG01884.hp2
HG01952.hp1
HG02083.hp1
HG02257.hp1
HG02273.hp1
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02615.hp1
HG02630.hp1
HG02698.hp1
HG02698.hp2
HG03017.hp1
HG03041.hp2
HG03195.hp1
HG03225.hp1
HG03540.hp1
HG03834.hp1
HG04115.hp1
HG04204.hp1
HG04228.hp2
HG06807.hp1
NA18612.hp1
NA18945.hp2
NA18949.hp2
NA18967.hp2
NA18972.hp1
NA18995.hp1
NA18999.hp1
NA19004.hp2
NA19043.hp1
NA19054.hp2
NA19086.hp1
NA19090.hp2
 intron_variant MODIFIER c.125+521C>A
c.125+521C>A
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 2/13 chr8 18075020
chr8:18075035 G
G
 A
A
 36 a0001c0001t0001g0072
a0001c0001t0004g0010
a0001c0001t0004g0011
others(33): Show 
a0001c0001t0001g0072
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0029
a0001c0001t0004g0065
a0001c0001t0004g0066
a0001c0001t0004g0067
a0001c0001t0004g0068
a0001c0001t0004g0069
a0001c0001t0004g0070
a0001c0001t0004g0071
a0001c0001t0004g0079
a0001c0001t0004g0080
a0001c0001t0004g0081
a0001c0001t0004g0083
a0001c0001t0004g0084
a0001c0001t0004g0089
a0001c0001t0004g0090
a0001c0001t0007g0058
a0001c0001t0007g0064
a0001c0001t0007g0073
a0001c0001t0007g0074
a0001c0001t0007g0075
a0001c0001t0007g0077
a0001c0001t0007g0078
a0001c0001t0007g0228
a0001c0001t0007g0229
a0001c0001t0007g0260
a0001c0001t0020g0076
a0001c0001t0021g0057
a0001c0001t0022g0082
a0001c0007t0023g0279
a0005c0005t0001g0213
a0005c0005t0011g0046
a0005c0005t0011g0211
a0005c0005t0011g0212
 44 HG00323.hp2
HG00438.hp2
HG01167.hp1
others(41): Show 
HG00323.hp2
HG00438.hp2
HG01167.hp1
HG01169.hp1
HG01257.hp2
HG01261.hp1
HG01361.hp1
HG01433.hp1
HG01496.hp1
HG01884.hp2
HG01952.hp1
HG02083.hp1
HG02257.hp1
HG02257.hp2
HG02273.hp1
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02615.hp1
HG02630.hp1
HG02698.hp1
HG02698.hp2
HG03017.hp1
HG03041.hp2
HG03195.hp1
HG03225.hp1
HG03540.hp1
HG03834.hp1
HG04115.hp1
HG04204.hp1
HG04228.hp2
HG06807.hp1
NA18612.hp1
NA18945.hp2
NA18949.hp2
NA18967.hp2
NA18972.hp1
NA18995.hp1
NA18999.hp1
NA19004.hp2
NA19043.hp1
NA19054.hp2
NA19086.hp1
NA19090.hp2
 intron_variant MODIFIER c.125+506C>T
c.125+506C>T
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 2/13 chr8 18075035
chr8:18075041 A
A
 G
G
 37 a0001c0001t0001g0072
a0001c0001t0004g0010
a0001c0001t0004g0011
others(34): Show 
a0001c0001t0001g0072
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0029
a0001c0001t0004g0065
a0001c0001t0004g0066
a0001c0001t0004g0067
a0001c0001t0004g0068
a0001c0001t0004g0069
a0001c0001t0004g0070
a0001c0001t0004g0071
a0001c0001t0004g0079
a0001c0001t0004g0080
a0001c0001t0004g0081
a0001c0001t0004g0083
a0001c0001t0004g0084
a0001c0001t0004g0089
a0001c0001t0004g0090
a0001c0001t0007g0058
a0001c0001t0007g0064
a0001c0001t0007g0073
a0001c0001t0007g0074
a0001c0001t0007g0075
a0001c0001t0007g0077
a0001c0001t0007g0078
a0001c0001t0007g0228
a0001c0001t0007g0229
a0001c0001t0007g0260
a0001c0001t0020g0076
a0001c0001t0021g0057
a0001c0001t0022g0082
a0001c0007t0023g0279
a0003c0003t0026g0268
a0005c0005t0001g0213
a0005c0005t0011g0046
a0005c0005t0011g0211
a0005c0005t0011g0212
 45 HG00323.hp2
HG00438.hp2
HG01167.hp1
others(42): Show 
HG00323.hp2
HG00438.hp2
HG01167.hp1
HG01169.hp1
HG01257.hp2
HG01261.hp1
HG01361.hp1
HG01433.hp1
HG01496.hp1
HG01884.hp2
HG01952.hp1
HG02083.hp1
HG02257.hp1
HG02257.hp2
HG02273.hp1
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02615.hp1
HG02622.hp2
HG02630.hp1
HG02698.hp1
HG02698.hp2
HG03017.hp1
HG03041.hp2
HG03195.hp1
HG03225.hp1
HG03540.hp1
HG03834.hp1
HG04115.hp1
HG04204.hp1
HG04228.hp2
HG06807.hp1
NA18612.hp1
NA18945.hp2
NA18949.hp2
NA18967.hp2
NA18972.hp1
NA18995.hp1
NA18999.hp1
NA19004.hp2
NA19043.hp1
NA19054.hp2
NA19086.hp1
NA19090.hp2
 intron_variant MODIFIER c.125+500T>C
c.125+500T>C
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 2/13 chr8 18075041
chr8:18075055 G
G
 A
A
 36 a0001c0001t0001g0072
a0001c0001t0004g0010
a0001c0001t0004g0011
others(33): Show 
a0001c0001t0001g0072
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0029
a0001c0001t0004g0065
a0001c0001t0004g0066
a0001c0001t0004g0067
a0001c0001t0004g0068
a0001c0001t0004g0069
a0001c0001t0004g0070
a0001c0001t0004g0071
a0001c0001t0004g0079
a0001c0001t0004g0080
a0001c0001t0004g0081
a0001c0001t0004g0083
a0001c0001t0004g0084
a0001c0001t0004g0089
a0001c0001t0004g0090
a0001c0001t0007g0058
a0001c0001t0007g0064
a0001c0001t0007g0073
a0001c0001t0007g0074
a0001c0001t0007g0075
a0001c0001t0007g0077
a0001c0001t0007g0078
a0001c0001t0007g0228
a0001c0001t0007g0229
a0001c0001t0007g0260
a0001c0001t0020g0076
a0001c0001t0021g0057
a0001c0001t0022g0082
a0001c0007t0023g0279
a0005c0005t0001g0213
a0005c0005t0011g0046
a0005c0005t0011g0211
a0005c0005t0011g0212
 44 HG00323.hp2
HG00438.hp2
HG01167.hp1
others(41): Show 
HG00323.hp2
HG00438.hp2
HG01167.hp1
HG01169.hp1
HG01257.hp2
HG01261.hp1
HG01361.hp1
HG01433.hp1
HG01496.hp1
HG01884.hp2
HG01952.hp1
HG02083.hp1
HG02257.hp1
HG02257.hp2
HG02273.hp1
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02615.hp1
HG02630.hp1
HG02698.hp1
HG02698.hp2
HG03017.hp1
HG03041.hp2
HG03195.hp1
HG03225.hp1
HG03540.hp1
HG03834.hp1
HG04115.hp1
HG04204.hp1
HG04228.hp2
HG06807.hp1
NA18612.hp1
NA18945.hp2
NA18949.hp2
NA18967.hp2
NA18972.hp1
NA18995.hp1
NA18999.hp1
NA19004.hp2
NA19043.hp1
NA19054.hp2
NA19086.hp1
NA19090.hp2
 intron_variant MODIFIER c.125+486C>T
c.125+486C>T
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 2/13 chr8 18075055
chr8:18075056 T
T
 C
C
 36 a0001c0001t0001g0072
a0001c0001t0004g0010
a0001c0001t0004g0011
others(33): Show 
a0001c0001t0001g0072
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0029
a0001c0001t0004g0065
a0001c0001t0004g0066
a0001c0001t0004g0067
a0001c0001t0004g0068
a0001c0001t0004g0069
a0001c0001t0004g0070
a0001c0001t0004g0071
a0001c0001t0004g0079
a0001c0001t0004g0080
a0001c0001t0004g0081
a0001c0001t0004g0083
a0001c0001t0004g0084
a0001c0001t0004g0089
a0001c0001t0004g0090
a0001c0001t0007g0058
a0001c0001t0007g0064
a0001c0001t0007g0073
a0001c0001t0007g0074
a0001c0001t0007g0075
a0001c0001t0007g0077
a0001c0001t0007g0078
a0001c0001t0007g0228
a0001c0001t0007g0229
a0001c0001t0007g0260
a0001c0001t0020g0076
a0001c0001t0021g0057
a0001c0001t0022g0082
a0001c0007t0023g0279
a0005c0005t0001g0213
a0005c0005t0011g0046
a0005c0005t0011g0211
a0005c0005t0011g0212
 44 HG00323.hp2
HG00438.hp2
HG01167.hp1
others(41): Show 
HG00323.hp2
HG00438.hp2
HG01167.hp1
HG01169.hp1
HG01257.hp2
HG01261.hp1
HG01361.hp1
HG01433.hp1
HG01496.hp1
HG01884.hp2
HG01952.hp1
HG02083.hp1
HG02257.hp1
HG02257.hp2
HG02273.hp1
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02615.hp1
HG02630.hp1
HG02698.hp1
HG02698.hp2
HG03017.hp1
HG03041.hp2
HG03195.hp1
HG03225.hp1
HG03540.hp1
HG03834.hp1
HG04115.hp1
HG04204.hp1
HG04228.hp2
HG06807.hp1
NA18612.hp1
NA18945.hp2
NA18949.hp2
NA18967.hp2
NA18972.hp1
NA18995.hp1
NA18999.hp1
NA19004.hp2
NA19043.hp1
NA19054.hp2
NA19086.hp1
NA19090.hp2
 intron_variant MODIFIER c.125+485A>G
c.125+485A>G
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 2/13 chr8 18075056
chr8:18075088 C
C
 T
T
 5 a0001c0007t0023g0279
a0005c0005t0001g0213
a0005c0005t0011g0046
others(2): Show 
a0001c0007t0023g0279
a0005c0005t0001g0213
a0005c0005t0011g0046
a0005c0005t0011g0211
a0005c0005t0011g0212
 6 HG02257.hp2
HG02698.hp1
HG02698.hp2
others(3): Show 
HG02257.hp2
HG02698.hp1
HG02698.hp2
HG03017.hp1
HG03834.hp1
HG04228.hp2
 intron_variant MODIFIER c.125+453G>A
c.125+453G>A
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 2/13 chr8 18075088
chr8:18075089 G
G
 A
A
 32 a0001c0001t0001g0072
a0001c0001t0004g0010
a0001c0001t0004g0011
others(29): Show 
a0001c0001t0001g0072
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0029
a0001c0001t0004g0065
a0001c0001t0004g0066
a0001c0001t0004g0067
a0001c0001t0004g0068
a0001c0001t0004g0069
a0001c0001t0004g0070
a0001c0001t0004g0071
a0001c0001t0004g0079
a0001c0001t0004g0080
a0001c0001t0004g0081
a0001c0001t0004g0083
a0001c0001t0004g0084
a0001c0001t0004g0089
a0001c0001t0004g0090
a0001c0001t0007g0058
a0001c0001t0007g0064
a0001c0001t0007g0073
a0001c0001t0007g0074
a0001c0001t0007g0075
a0001c0001t0007g0077
a0001c0001t0007g0078
a0001c0001t0007g0228
a0001c0001t0007g0229
a0001c0001t0007g0260
a0001c0001t0020g0076
a0001c0001t0021g0057
a0001c0001t0022g0082
a0002c0002t0002g0018
 41 HG00323.hp2
HG00438.hp2
HG01167.hp1
others(38): Show 
HG00323.hp2
HG00438.hp2
HG01167.hp1
HG01169.hp1
HG01257.hp2
HG01261.hp1
HG01361.hp1
HG01433.hp1
HG01496.hp1
HG01884.hp2
HG01952.hp1
HG02083.hp1
HG02257.hp1
HG02273.hp1
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02615.hp1
HG02630.hp1
HG03041.hp2
HG03195.hp1
HG03225.hp1
HG03540.hp1
HG04115.hp1
HG04204.hp1
HG06807.hp1
NA18612.hp1
NA18942.hp1
NA18945.hp2
NA18949.hp2
NA18967.hp2
NA18972.hp1
NA18975.hp2
NA18995.hp1
NA18999.hp1
NA19004.hp2
NA19043.hp1
NA19054.hp2
NA19086.hp1
NA19086.hp2
NA19090.hp2
 intron_variant MODIFIER c.125+452C>T
c.125+452C>T
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 2/13 chr8 18075089
chr8:18075097 G
G
 T
T
 31 a0001c0001t0001g0072
a0001c0001t0004g0010
a0001c0001t0004g0011
others(28): Show 
a0001c0001t0001g0072
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0029
a0001c0001t0004g0065
a0001c0001t0004g0066
a0001c0001t0004g0067
a0001c0001t0004g0068
a0001c0001t0004g0069
a0001c0001t0004g0070
a0001c0001t0004g0071
a0001c0001t0004g0079
a0001c0001t0004g0080
a0001c0001t0004g0081
a0001c0001t0004g0083
a0001c0001t0004g0084
a0001c0001t0004g0089
a0001c0001t0004g0090
a0001c0001t0007g0058
a0001c0001t0007g0064
a0001c0001t0007g0073
a0001c0001t0007g0074
a0001c0001t0007g0075
a0001c0001t0007g0077
a0001c0001t0007g0078
a0001c0001t0007g0228
a0001c0001t0007g0229
a0001c0001t0007g0260
a0001c0001t0020g0076
a0001c0001t0021g0057
a0001c0001t0022g0082
 38 HG00323.hp2
HG00438.hp2
HG01167.hp1
others(35): Show 
HG00323.hp2
HG00438.hp2
HG01167.hp1
HG01169.hp1
HG01257.hp2
HG01261.hp1
HG01361.hp1
HG01433.hp1
HG01496.hp1
HG01884.hp2
HG01952.hp1
HG02083.hp1
HG02257.hp1
HG02273.hp1
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02615.hp1
HG02630.hp1
HG03041.hp2
HG03195.hp1
HG03225.hp1
HG03540.hp1
HG04115.hp1
HG04204.hp1
HG06807.hp1
NA18612.hp1
NA18945.hp2
NA18949.hp2
NA18967.hp2
NA18972.hp1
NA18995.hp1
NA18999.hp1
NA19004.hp2
NA19043.hp1
NA19054.hp2
NA19086.hp1
NA19090.hp2
 intron_variant MODIFIER c.125+444C>A
c.125+444C>A
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 2/13 chr8 18075097
chr8:18075098 C
C
 T
T
 1 a0003c0003t0005g0168
a0003c0003t0005g0168
 1 NA18522.hp1
NA18522.hp1
 intron_variant MODIFIER c.125+443G>A
c.125+443G>A
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 2/13 chr8 18075098
chr8:18075120 A
A
 C
C
 36 a0001c0001t0001g0072
a0001c0001t0004g0010
a0001c0001t0004g0011
others(33): Show 
a0001c0001t0001g0072
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0029
a0001c0001t0004g0065
a0001c0001t0004g0066
a0001c0001t0004g0067
a0001c0001t0004g0068
a0001c0001t0004g0069
a0001c0001t0004g0070
a0001c0001t0004g0071
a0001c0001t0004g0079
a0001c0001t0004g0080
a0001c0001t0004g0081
a0001c0001t0004g0083
a0001c0001t0004g0084
a0001c0001t0004g0089
a0001c0001t0004g0090
a0001c0001t0007g0058
a0001c0001t0007g0064
a0001c0001t0007g0073
a0001c0001t0007g0074
a0001c0001t0007g0075
a0001c0001t0007g0077
a0001c0001t0007g0078
a0001c0001t0007g0228
a0001c0001t0007g0229
a0001c0001t0007g0260
a0001c0001t0020g0076
a0001c0001t0021g0057
a0001c0001t0022g0082
a0001c0007t0023g0279
a0005c0005t0001g0213
a0005c0005t0011g0046
a0005c0005t0011g0211
a0005c0005t0011g0212
 44 HG00323.hp2
HG00438.hp2
HG01167.hp1
others(41): Show 
HG00323.hp2
HG00438.hp2
HG01167.hp1
HG01169.hp1
HG01257.hp2
HG01261.hp1
HG01361.hp1
HG01433.hp1
HG01496.hp1
HG01884.hp2
HG01952.hp1
HG02083.hp1
HG02257.hp1
HG02257.hp2
HG02273.hp1
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02615.hp1
HG02630.hp1
HG02698.hp1
HG02698.hp2
HG03017.hp1
HG03041.hp2
HG03195.hp1
HG03225.hp1
HG03540.hp1
HG03834.hp1
HG04115.hp1
HG04204.hp1
HG04228.hp2
HG06807.hp1
NA18612.hp1
NA18945.hp2
NA18949.hp2
NA18967.hp2
NA18972.hp1
NA18995.hp1
NA18999.hp1
NA19004.hp2
NA19043.hp1
NA19054.hp2
NA19086.hp1
NA19090.hp2
 intron_variant MODIFIER c.125+421T>G
c.125+421T>G
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 2/13 chr8 18075120
chr8:18075121 G
G
 C
C
 1 a0001c0007t0023g0279
a0001c0007t0023g0279
 1 HG02257.hp2
HG02257.hp2
 intron_variant MODIFIER c.125+420C>G
c.125+420C>G
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 2/13 chr8 18075121
chr8:18075140 C
C
 T
T
 1 a0001c0001t0001g0167
a0001c0001t0001g0167
 1 HG02486.hp2
HG02486.hp2
 intron_variant MODIFIER c.125+401G>A
c.125+401G>A
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 2/13 chr8 18075140
chr8:18075206 C
C
 G
G
 36 a0001c0001t0001g0072
a0001c0001t0004g0010
a0001c0001t0004g0011
others(33): Show 
a0001c0001t0001g0072
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0029
a0001c0001t0004g0065
a0001c0001t0004g0066
a0001c0001t0004g0067
a0001c0001t0004g0068
a0001c0001t0004g0069
a0001c0001t0004g0070
a0001c0001t0004g0071
a0001c0001t0004g0079
a0001c0001t0004g0080
a0001c0001t0004g0081
a0001c0001t0004g0083
a0001c0001t0004g0084
a0001c0001t0004g0089
a0001c0001t0004g0090
a0001c0001t0007g0058
a0001c0001t0007g0064
a0001c0001t0007g0073
a0001c0001t0007g0074
a0001c0001t0007g0075
a0001c0001t0007g0077
a0001c0001t0007g0078
a0001c0001t0007g0228
a0001c0001t0007g0229
a0001c0001t0007g0260
a0001c0001t0020g0076
a0001c0001t0021g0057
a0001c0001t0022g0082
a0001c0007t0023g0279
a0005c0005t0001g0213
a0005c0005t0011g0046
a0005c0005t0011g0211
a0005c0005t0011g0212
 44 HG00323.hp2
HG00438.hp2
HG01167.hp1
others(41): Show 
HG00323.hp2
HG00438.hp2
HG01167.hp1
HG01169.hp1
HG01257.hp2
HG01261.hp1
HG01361.hp1
HG01433.hp1
HG01496.hp1
HG01884.hp2
HG01952.hp1
HG02083.hp1
HG02257.hp1
HG02257.hp2
HG02273.hp1
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02615.hp1
HG02630.hp1
HG02698.hp1
HG02698.hp2
HG03017.hp1
HG03041.hp2
HG03195.hp1
HG03225.hp1
HG03540.hp1
HG03834.hp1
HG04115.hp1
HG04204.hp1
HG04228.hp2
HG06807.hp1
NA18612.hp1
NA18945.hp2
NA18949.hp2
NA18967.hp2
NA18972.hp1
NA18995.hp1
NA18999.hp1
NA19004.hp2
NA19043.hp1
NA19054.hp2
NA19086.hp1
NA19090.hp2
 intron_variant MODIFIER c.125+335G>C
c.125+335G>C
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 2/13 chr8 18075206
chr8:18075215 G
G
 T
T
 35 a0001c0001t0001g0072
a0001c0001t0004g0010
a0001c0001t0004g0011
others(32): Show 
a0001c0001t0001g0072
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0029
a0001c0001t0004g0065
a0001c0001t0004g0066
a0001c0001t0004g0067
a0001c0001t0004g0068
a0001c0001t0004g0069
a0001c0001t0004g0070
a0001c0001t0004g0071
a0001c0001t0004g0079
a0001c0001t0004g0080
a0001c0001t0004g0081
a0001c0001t0004g0083
a0001c0001t0004g0084
a0001c0001t0004g0089
a0001c0001t0004g0090
a0001c0001t0007g0058
a0001c0001t0007g0064
a0001c0001t0007g0073
a0001c0001t0007g0074
a0001c0001t0007g0075
a0001c0001t0007g0077
a0001c0001t0007g0078
a0001c0001t0007g0228
a0001c0001t0007g0229
a0001c0001t0007g0260
a0001c0001t0020g0076
a0001c0001t0021g0057
a0001c0001t0022g0082
a0005c0005t0001g0213
a0005c0005t0011g0046
a0005c0005t0011g0211
a0005c0005t0011g0212
 43 HG00323.hp2
HG00438.hp2
HG01167.hp1
others(40): Show 
HG00323.hp2
HG00438.hp2
HG01167.hp1
HG01169.hp1
HG01257.hp2
HG01261.hp1
HG01361.hp1
HG01433.hp1
HG01496.hp1
HG01884.hp2
HG01952.hp1
HG02083.hp1
HG02257.hp1
HG02273.hp1
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02615.hp1
HG02630.hp1
HG02698.hp1
HG02698.hp2
HG03017.hp1
HG03041.hp2
HG03195.hp1
HG03225.hp1
HG03540.hp1
HG03834.hp1
HG04115.hp1
HG04204.hp1
HG04228.hp2
HG06807.hp1
NA18612.hp1
NA18945.hp2
NA18949.hp2
NA18967.hp2
NA18972.hp1
NA18995.hp1
NA18999.hp1
NA19004.hp2
NA19043.hp1
NA19054.hp2
NA19086.hp1
NA19090.hp2
 intron_variant MODIFIER c.125+326C>A
c.125+326C>A
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 2/13 chr8 18075215
chr8:18075228 T
T
 C
C
 36 a0001c0001t0001g0072
a0001c0001t0004g0010
a0001c0001t0004g0011
others(33): Show 
a0001c0001t0001g0072
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0029
a0001c0001t0004g0065
a0001c0001t0004g0066
a0001c0001t0004g0067
a0001c0001t0004g0068
a0001c0001t0004g0069
a0001c0001t0004g0070
a0001c0001t0004g0071
a0001c0001t0004g0079
a0001c0001t0004g0080
a0001c0001t0004g0081
a0001c0001t0004g0083
a0001c0001t0004g0084
a0001c0001t0004g0089
a0001c0001t0004g0090
a0001c0001t0007g0058
a0001c0001t0007g0064
a0001c0001t0007g0073
a0001c0001t0007g0074
a0001c0001t0007g0075
a0001c0001t0007g0077
a0001c0001t0007g0078
a0001c0001t0007g0228
a0001c0001t0007g0229
a0001c0001t0007g0260
a0001c0001t0020g0076
a0001c0001t0021g0057
a0001c0001t0022g0082
a0001c0007t0023g0279
a0005c0005t0001g0213
a0005c0005t0011g0046
a0005c0005t0011g0211
a0005c0005t0011g0212
 44 HG00323.hp2
HG00438.hp2
HG01167.hp1
others(41): Show 
HG00323.hp2
HG00438.hp2
HG01167.hp1
HG01169.hp1
HG01257.hp2
HG01261.hp1
HG01361.hp1
HG01433.hp1
HG01496.hp1
HG01884.hp2
HG01952.hp1
HG02083.hp1
HG02257.hp1
HG02257.hp2
HG02273.hp1
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02615.hp1
HG02630.hp1
HG02698.hp1
HG02698.hp2
HG03017.hp1
HG03041.hp2
HG03195.hp1
HG03225.hp1
HG03540.hp1
HG03834.hp1
HG04115.hp1
HG04204.hp1
HG04228.hp2
HG06807.hp1
NA18612.hp1
NA18945.hp2
NA18949.hp2
NA18967.hp2
NA18972.hp1
NA18995.hp1
NA18999.hp1
NA19004.hp2
NA19043.hp1
NA19054.hp2
NA19086.hp1
NA19090.hp2
 intron_variant MODIFIER c.125+313A>G
c.125+313A>G
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 2/13 chr8 18075228
chr8:18075269 A
A
 C
C
 36 a0001c0001t0001g0072
a0001c0001t0004g0010
a0001c0001t0004g0011
others(33): Show 
a0001c0001t0001g0072
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0029
a0001c0001t0004g0065
a0001c0001t0004g0066
a0001c0001t0004g0067
a0001c0001t0004g0068
a0001c0001t0004g0069
a0001c0001t0004g0070
a0001c0001t0004g0071
a0001c0001t0004g0079
a0001c0001t0004g0080
a0001c0001t0004g0081
a0001c0001t0004g0083
a0001c0001t0004g0084
a0001c0001t0004g0089
a0001c0001t0004g0090
a0001c0001t0007g0058
a0001c0001t0007g0064
a0001c0001t0007g0073
a0001c0001t0007g0074
a0001c0001t0007g0075
a0001c0001t0007g0077
a0001c0001t0007g0078
a0001c0001t0007g0228
a0001c0001t0007g0229
a0001c0001t0007g0260
a0001c0001t0020g0076
a0001c0001t0021g0057
a0001c0001t0022g0082
a0001c0007t0023g0279
a0005c0005t0001g0213
a0005c0005t0011g0046
a0005c0005t0011g0211
a0005c0005t0011g0212
 44 HG00323.hp2
HG00438.hp2
HG01167.hp1
others(41): Show 
HG00323.hp2
HG00438.hp2
HG01167.hp1
HG01169.hp1
HG01257.hp2
HG01261.hp1
HG01361.hp1
HG01433.hp1
HG01496.hp1
HG01884.hp2
HG01952.hp1
HG02083.hp1
HG02257.hp1
HG02257.hp2
HG02273.hp1
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02615.hp1
HG02630.hp1
HG02698.hp1
HG02698.hp2
HG03017.hp1
HG03041.hp2
HG03195.hp1
HG03225.hp1
HG03540.hp1
HG03834.hp1
HG04115.hp1
HG04204.hp1
HG04228.hp2
HG06807.hp1
NA18612.hp1
NA18945.hp2
NA18949.hp2
NA18967.hp2
NA18972.hp1
NA18995.hp1
NA18999.hp1
NA19004.hp2
NA19043.hp1
NA19054.hp2
NA19086.hp1
NA19090.hp2
 intron_variant MODIFIER c.125+272T>G
c.125+272T>G
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 2/13 chr8 18075269
chr8:18075313 T
T
 C
C
 5 a0002c0002t0002g0037
a0002c0002t0002g0099
a0002c0002t0002g0100
others(2): Show 
a0002c0002t0002g0037
a0002c0002t0002g0099
a0002c0002t0002g0100
a0002c0002t0002g0148
a0002c0002t0006g0147
 6 HG02056.hp2
HG02523.hp1
NA18959.hp1
others(3): Show 
HG02056.hp2
HG02523.hp1
NA18959.hp1
NA18969.hp2
NA18977.hp1
NA19056.hp1
 intron_variant MODIFIER c.125+228A>G
c.125+228A>G
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 2/13 chr8 18075313
chr8:18075344 A
A
 G
G
 1 a0002c0002t0002g0139
a0002c0002t0002g0139
 1 NA20805.hp1
NA20805.hp1
 intron_variant MODIFIER c.125+197T>C
c.125+197T>C
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 2/13 chr8 18075344
chr8:18075590 G
G
 A
A
 36 a0001c0001t0001g0072
a0001c0001t0004g0010
a0001c0001t0004g0011
others(33): Show 
a0001c0001t0001g0072
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0029
a0001c0001t0004g0065
a0001c0001t0004g0066
a0001c0001t0004g0067
a0001c0001t0004g0068
a0001c0001t0004g0069
a0001c0001t0004g0070
a0001c0001t0004g0071
a0001c0001t0004g0079
a0001c0001t0004g0080
a0001c0001t0004g0081
a0001c0001t0004g0083
a0001c0001t0004g0084
a0001c0001t0004g0089
a0001c0001t0004g0090
a0001c0001t0007g0058
a0001c0001t0007g0064
a0001c0001t0007g0073
a0001c0001t0007g0074
a0001c0001t0007g0075
a0001c0001t0007g0077
a0001c0001t0007g0078
a0001c0001t0007g0228
a0001c0001t0007g0229
a0001c0001t0007g0260
a0001c0001t0020g0076
a0001c0001t0021g0057
a0001c0001t0022g0082
a0001c0007t0023g0279
a0005c0005t0001g0213
a0005c0005t0011g0046
a0005c0005t0011g0211
a0005c0005t0011g0212
 44 HG00323.hp2
HG00438.hp2
HG01167.hp1
others(41): Show 
HG00323.hp2
HG00438.hp2
HG01167.hp1
HG01169.hp1
HG01257.hp2
HG01261.hp1
HG01361.hp1
HG01433.hp1
HG01496.hp1
HG01884.hp2
HG01952.hp1
HG02083.hp1
HG02257.hp1
HG02257.hp2
HG02273.hp1
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02615.hp1
HG02630.hp1
HG02698.hp1
HG02698.hp2
HG03017.hp1
HG03041.hp2
HG03195.hp1
HG03225.hp1
HG03540.hp1
HG03834.hp1
HG04115.hp1
HG04204.hp1
HG04228.hp2
HG06807.hp1
NA18612.hp1
NA18945.hp2
NA18949.hp2
NA18967.hp2
NA18972.hp1
NA18995.hp1
NA18999.hp1
NA19004.hp2
NA19043.hp1
NA19054.hp2
NA19086.hp1
NA19090.hp2
 splice_region_variant&intron_variant LOW c.79-3C>T
c.79-3C>T
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 1/13 chr8 18075590
chr8:18075627 T
T
 C
C
 2 a0002c0002t0003g0103
a0002c0002t0003g0113
a0002c0002t0003g0103
a0002c0002t0003g0113
 2 NA18962.hp2
NA18999.hp2
NA18962.hp2
NA18999.hp2
 intron_variant MODIFIER c.79-40A>G
c.79-40A>G
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 1/13 chr8 18075627
chr8:18075637 C
C
 T
T
 36 a0001c0001t0001g0072
a0001c0001t0004g0010
a0001c0001t0004g0011
others(33): Show 
a0001c0001t0001g0072
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0029
a0001c0001t0004g0065
a0001c0001t0004g0066
a0001c0001t0004g0067
a0001c0001t0004g0068
a0001c0001t0004g0069
a0001c0001t0004g0070
a0001c0001t0004g0071
a0001c0001t0004g0079
a0001c0001t0004g0080
a0001c0001t0004g0081
a0001c0001t0004g0083
a0001c0001t0004g0084
a0001c0001t0004g0089
a0001c0001t0004g0090
a0001c0001t0007g0058
a0001c0001t0007g0064
a0001c0001t0007g0073
a0001c0001t0007g0074
a0001c0001t0007g0075
a0001c0001t0007g0077
a0001c0001t0007g0078
a0001c0001t0007g0228
a0001c0001t0007g0229
a0001c0001t0007g0260
a0001c0001t0020g0076
a0001c0001t0021g0057
a0001c0001t0022g0082
a0002c0002t0002g0055
a0005c0005t0001g0213
a0005c0005t0011g0046
a0005c0005t0011g0211
a0005c0005t0011g0212
 44 HG00323.hp2
HG00438.hp2
HG01167.hp1
others(41): Show 
HG00323.hp2
HG00438.hp2
HG01167.hp1
HG01169.hp1
HG01257.hp2
HG01261.hp1
HG01361.hp1
HG01433.hp1
HG01496.hp1
HG01884.hp2
HG01952.hp1
HG02083.hp1
HG02257.hp1
HG02273.hp1
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02615.hp1
HG02630.hp1
HG02698.hp1
HG02698.hp2
HG03017.hp1
HG03041.hp2
HG03195.hp1
HG03225.hp1
HG03486.hp2
HG03540.hp1
HG03834.hp1
HG04115.hp1
HG04204.hp1
HG04228.hp2
HG06807.hp1
NA18612.hp1
NA18945.hp2
NA18949.hp2
NA18967.hp2
NA18972.hp1
NA18995.hp1
NA18999.hp1
NA19004.hp2
NA19043.hp1
NA19054.hp2
NA19086.hp1
NA19090.hp2
 intron_variant MODIFIER c.79-50G>A
c.79-50G>A
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 1/13 chr8 18075637
chr8:18075736 T
T
 C
C
 36 a0001c0001t0001g0072
a0001c0001t0004g0010
a0001c0001t0004g0011
others(33): Show 
a0001c0001t0001g0072
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0029
a0001c0001t0004g0065
a0001c0001t0004g0066
a0001c0001t0004g0067
a0001c0001t0004g0068
a0001c0001t0004g0069
a0001c0001t0004g0070
a0001c0001t0004g0071
a0001c0001t0004g0079
a0001c0001t0004g0080
a0001c0001t0004g0081
a0001c0001t0004g0083
a0001c0001t0004g0084
a0001c0001t0004g0089
a0001c0001t0004g0090
a0001c0001t0007g0058
a0001c0001t0007g0064
a0001c0001t0007g0073
a0001c0001t0007g0074
a0001c0001t0007g0075
a0001c0001t0007g0077
a0001c0001t0007g0078
a0001c0001t0007g0228
a0001c0001t0007g0229
a0001c0001t0007g0260
a0001c0001t0020g0076
a0001c0001t0021g0057
a0001c0001t0022g0082
a0001c0007t0023g0279
a0005c0005t0001g0213
a0005c0005t0011g0046
a0005c0005t0011g0211
a0005c0005t0011g0212
 44 HG00323.hp2
HG00438.hp2
HG01167.hp1
others(41): Show 
HG00323.hp2
HG00438.hp2
HG01167.hp1
HG01169.hp1
HG01257.hp2
HG01261.hp1
HG01361.hp1
HG01433.hp1
HG01496.hp1
HG01884.hp2
HG01952.hp1
HG02083.hp1
HG02257.hp1
HG02257.hp2
HG02273.hp1
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02615.hp1
HG02630.hp1
HG02698.hp1
HG02698.hp2
HG03017.hp1
HG03041.hp2
HG03195.hp1
HG03225.hp1
HG03540.hp1
HG03834.hp1
HG04115.hp1
HG04204.hp1
HG04228.hp2
HG06807.hp1
NA18612.hp1
NA18945.hp2
NA18949.hp2
NA18967.hp2
NA18972.hp1
NA18995.hp1
NA18999.hp1
NA19004.hp2
NA19043.hp1
NA19054.hp2
NA19086.hp1
NA19090.hp2
 intron_variant MODIFIER c.79-149A>G
c.79-149A>G
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 1/13 chr8 18075736
chr8:18075949 C
C
 T
T
 119 a0001c0001t0001g0072
a0001c0001t0001g0153
a0001c0001t0001g0226
others(116): Show 
a0001c0001t0001g0072
a0001c0001t0001g0153
a0001c0001t0001g0226
a0001c0001t0002g0216
a0001c0001t0002g0220
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0029
a0001c0001t0004g0065
a0001c0001t0004g0066
a0001c0001t0004g0067
a0001c0001t0004g0068
a0001c0001t0004g0069
a0001c0001t0004g0070
a0001c0001t0004g0071
a0001c0001t0004g0079
a0001c0001t0004g0080
a0001c0001t0004g0081
a0001c0001t0004g0083
a0001c0001t0004g0084
a0001c0001t0004g0089
a0001c0001t0004g0090
a0001c0001t0006g0047
a0001c0001t0006g0154
a0001c0001t0006g0215
a0001c0001t0006g0217
a0001c0001t0006g0221
a0001c0001t0006g0222
a0001c0001t0006g0224
a0001c0001t0006g0225
a0001c0001t0006g0227
a0001c0001t0007g0058
a0001c0001t0007g0064
a0001c0001t0007g0073
a0001c0001t0007g0074
a0001c0001t0007g0075
a0001c0001t0007g0077
a0001c0001t0007g0078
a0001c0001t0007g0228
a0001c0001t0007g0229
a0001c0001t0007g0260
a0001c0001t0013g0281
a0001c0001t0014g0027
a0001c0001t0020g0076
a0001c0001t0021g0057
a0001c0001t0022g0082
a0001c0007t0023g0279
a0001c0008t0006g0218
a0002c0002t0001g0013
a0002c0002t0001g0032
a0002c0002t0001g0136
a0002c0002t0001g0150
a0002c0002t0002g0001
a0002c0002t0002g0008
a0002c0002t0002g0017
a0002c0002t0002g0018
a0002c0002t0002g0021
a0002c0002t0002g0028
a0002c0002t0002g0034
a0002c0002t0002g0035
a0002c0002t0002g0036
a0002c0002t0002g0037
a0002c0002t0002g0038
a0002c0002t0002g0039
a0002c0002t0002g0055
a0002c0002t0002g0092
a0002c0002t0002g0093
a0002c0002t0002g0099
a0002c0002t0002g0100
a0002c0002t0002g0120
a0002c0002t0002g0131
a0002c0002t0002g0132
a0002c0002t0002g0133
a0002c0002t0002g0135
a0002c0002t0002g0137
a0002c0002t0002g0138
a0002c0002t0002g0139
a0002c0002t0002g0140
a0002c0002t0002g0141
a0002c0002t0002g0142
a0002c0002t0002g0143
a0002c0002t0002g0144
a0002c0002t0002g0145
a0002c0002t0002g0146
a0002c0002t0002g0148
a0002c0002t0002g0149
a0002c0002t0002g0151
a0002c0002t0002g0152
a0002c0002t0002g0155
a0002c0002t0002g0156
a0002c0002t0002g0157
a0002c0002t0002g0209
a0002c0002t0002g0258
a0002c0002t0002g0285
a0002c0002t0006g0147
a0002c0002t0025g0054
a0002c0002t0033g0053
a0002c0002t0035g0286
a0003c0003t0001g0051
a0003c0003t0001g0269
a0003c0003t0002g0223
a0003c0003t0005g0056
a0003c0003t0005g0063
a0003c0003t0008g0022
a0003c0003t0008g0030
a0003c0003t0008g0085
a0003c0003t0008g0086
a0003c0003t0008g0087
a0003c0003t0008g0088
a0003c0003t0009g0014
a0003c0003t0009g0062
a0003c0003t0009g0198
a0003c0003t0009g0199
a0003c0003t0009g0219
a0003c0003t0017g0272
a0005c0005t0001g0213
a0005c0005t0011g0046
a0005c0005t0011g0211
a0005c0005t0011g0212
 173 HG00140.hp2
HG00280.hp1
HG00323.hp1
others(170): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp1
HG00323.hp2
HG00438.hp2
HG00597.hp2
HG00642.hp1
HG00738.hp1
HG00741.hp2
HG01070.hp2
HG01099.hp1
HG01106.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01169.hp1
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01243.hp2
HG01255.hp2
HG01256.hp1
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01496.hp1
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01884.hp2
HG01952.hp1
HG01978.hp1
HG02056.hp2
HG02071.hp1
HG02074.hp2
HG02080.hp2
HG02083.hp1
HG02109.hp2
HG02129.hp2
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02257.hp1
HG02257.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02523.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03195.hp1
HG03209.hp2
HG03225.hp1
HG03239.hp1
HG03453.hp2
HG03486.hp1
HG03486.hp2
HG03492.hp2
HG03540.hp1
HG03579.hp2
HG03688.hp2
HG03710.hp2
HG03831.hp2
HG03834.hp1
HG03927.hp1
HG04115.hp1
HG04204.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18612.hp1
NA18747.hp1
NA18906.hp1
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18942.hp1
NA18945.hp2
NA18949.hp2
NA18959.hp1
NA18963.hp1
NA18965.hp1
NA18966.hp2
NA18967.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18972.hp1
NA18975.hp2
NA18977.hp1
NA18979.hp2
NA18981.hp1
NA18982.hp2
NA18983.hp1
NA18984.hp2
NA18986.hp2
NA18993.hp1
NA18995.hp1
NA18995.hp2
NA18999.hp1
NA19004.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19056.hp1
NA19058.hp1
NA19060.hp1
NA19060.hp2
NA19063.hp1
NA19064.hp2
NA19066.hp2
NA19067.hp2
NA19068.hp2
NA19076.hp2
NA19077.hp1
NA19086.hp1
NA19086.hp2
NA19090.hp2
NA19240.hp1
NA20129.hp1
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.79-362G>A
c.79-362G>A
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 1/13 chr8 18075949
chr8:18075961 G
G
 A
A
 35 a0001c0001t0001g0072
a0001c0001t0004g0010
a0001c0001t0004g0011
others(32): Show 
a0001c0001t0001g0072
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0029
a0001c0001t0004g0065
a0001c0001t0004g0066
a0001c0001t0004g0067
a0001c0001t0004g0068
a0001c0001t0004g0069
a0001c0001t0004g0070
a0001c0001t0004g0071
a0001c0001t0004g0079
a0001c0001t0004g0080
a0001c0001t0004g0081
a0001c0001t0004g0083
a0001c0001t0004g0084
a0001c0001t0004g0089
a0001c0001t0004g0090
a0001c0001t0007g0058
a0001c0001t0007g0064
a0001c0001t0007g0073
a0001c0001t0007g0074
a0001c0001t0007g0075
a0001c0001t0007g0077
a0001c0001t0007g0078
a0001c0001t0007g0228
a0001c0001t0007g0229
a0001c0001t0007g0260
a0001c0001t0020g0076
a0001c0001t0021g0057
a0001c0001t0022g0082
a0005c0005t0001g0213
a0005c0005t0011g0046
a0005c0005t0011g0211
a0005c0005t0011g0212
 43 HG00323.hp2
HG00438.hp2
HG01167.hp1
others(40): Show 
HG00323.hp2
HG00438.hp2
HG01167.hp1
HG01169.hp1
HG01257.hp2
HG01261.hp1
HG01361.hp1
HG01433.hp1
HG01496.hp1
HG01884.hp2
HG01952.hp1
HG02083.hp1
HG02257.hp1
HG02273.hp1
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02615.hp1
HG02630.hp1
HG02698.hp1
HG02698.hp2
HG03017.hp1
HG03041.hp2
HG03195.hp1
HG03225.hp1
HG03540.hp1
HG03834.hp1
HG04115.hp1
HG04204.hp1
HG04228.hp2
HG06807.hp1
NA18612.hp1
NA18945.hp2
NA18949.hp2
NA18967.hp2
NA18972.hp1
NA18995.hp1
NA18999.hp1
NA19004.hp2
NA19043.hp1
NA19054.hp2
NA19086.hp1
NA19090.hp2
 intron_variant MODIFIER c.79-374C>T
c.79-374C>T
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 1/13 chr8 18075961
chr8:18076248 C
C
 G
G
 36 a0001c0001t0001g0072
a0001c0001t0004g0010
a0001c0001t0004g0011
others(33): Show 
a0001c0001t0001g0072
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0029
a0001c0001t0004g0065
a0001c0001t0004g0066
a0001c0001t0004g0067
a0001c0001t0004g0068
a0001c0001t0004g0069
a0001c0001t0004g0070
a0001c0001t0004g0071
a0001c0001t0004g0079
a0001c0001t0004g0080
a0001c0001t0004g0081
a0001c0001t0004g0083
a0001c0001t0004g0084
a0001c0001t0004g0089
a0001c0001t0004g0090
a0001c0001t0007g0058
a0001c0001t0007g0064
a0001c0001t0007g0073
a0001c0001t0007g0074
a0001c0001t0007g0075
a0001c0001t0007g0077
a0001c0001t0007g0078
a0001c0001t0007g0228
a0001c0001t0007g0229
a0001c0001t0007g0260
a0001c0001t0013g0281
a0001c0001t0020g0076
a0001c0001t0021g0057
a0001c0001t0022g0082
a0005c0005t0001g0213
a0005c0005t0011g0046
a0005c0005t0011g0211
a0005c0005t0011g0212
 44 HG00323.hp2
HG00438.hp2
HG01167.hp1
others(41): Show 
HG00323.hp2
HG00438.hp2
HG01167.hp1
HG01169.hp1
HG01257.hp2
HG01261.hp1
HG01361.hp1
HG01433.hp1
HG01496.hp1
HG01884.hp2
HG01952.hp1
HG02083.hp1
HG02257.hp1
HG02273.hp1
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02615.hp1
HG02630.hp1
HG02698.hp1
HG02698.hp2
HG02976.hp2
HG03017.hp1
HG03041.hp2
HG03195.hp1
HG03225.hp1
HG03540.hp1
HG03834.hp1
HG04115.hp1
HG04204.hp1
HG04228.hp2
HG06807.hp1
NA18612.hp1
NA18945.hp2
NA18949.hp2
NA18967.hp2
NA18972.hp1
NA18995.hp1
NA18999.hp1
NA19004.hp2
NA19043.hp1
NA19054.hp2
NA19086.hp1
NA19090.hp2
 intron_variant MODIFIER c.79-661G>C
c.79-661G>C
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 1/13 chr8 18076248
chr8:18076257 G
G
 A
A
 36 a0001c0001t0001g0072
a0001c0001t0004g0010
a0001c0001t0004g0011
others(33): Show 
a0001c0001t0001g0072
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0029
a0001c0001t0004g0065
a0001c0001t0004g0066
a0001c0001t0004g0067
a0001c0001t0004g0068
a0001c0001t0004g0069
a0001c0001t0004g0070
a0001c0001t0004g0071
a0001c0001t0004g0079
a0001c0001t0004g0080
a0001c0001t0004g0081
a0001c0001t0004g0083
a0001c0001t0004g0084
a0001c0001t0004g0089
a0001c0001t0004g0090
a0001c0001t0007g0058
a0001c0001t0007g0064
a0001c0001t0007g0073
a0001c0001t0007g0074
a0001c0001t0007g0075
a0001c0001t0007g0077
a0001c0001t0007g0078
a0001c0001t0007g0228
a0001c0001t0007g0229
a0001c0001t0007g0260
a0001c0001t0013g0281
a0001c0001t0020g0076
a0001c0001t0021g0057
a0001c0001t0022g0082
a0005c0005t0001g0213
a0005c0005t0011g0046
a0005c0005t0011g0211
a0005c0005t0011g0212
 44 HG00323.hp2
HG00438.hp2
HG01167.hp1
others(41): Show 
HG00323.hp2
HG00438.hp2
HG01167.hp1
HG01169.hp1
HG01257.hp2
HG01261.hp1
HG01361.hp1
HG01433.hp1
HG01496.hp1
HG01884.hp2
HG01952.hp1
HG02083.hp1
HG02257.hp1
HG02273.hp1
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02615.hp1
HG02630.hp1
HG02698.hp1
HG02698.hp2
HG02976.hp2
HG03017.hp1
HG03041.hp2
HG03195.hp1
HG03225.hp1
HG03540.hp1
HG03834.hp1
HG04115.hp1
HG04204.hp1
HG04228.hp2
HG06807.hp1
NA18612.hp1
NA18945.hp2
NA18949.hp2
NA18967.hp2
NA18972.hp1
NA18995.hp1
NA18999.hp1
NA19004.hp2
NA19043.hp1
NA19054.hp2
NA19086.hp1
NA19090.hp2
 intron_variant MODIFIER c.79-670C>T
c.79-670C>T
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 1/13 chr8 18076257
chr8:18076265 T
T
 C
C
 13 a0003c0003t0002g0223
a0003c0003t0005g0063
a0003c0003t0008g0022
others(10): Show 
a0003c0003t0002g0223
a0003c0003t0005g0063
a0003c0003t0008g0022
a0003c0003t0008g0030
a0003c0003t0008g0085
a0003c0003t0008g0086
a0003c0003t0008g0087
a0003c0003t0008g0088
a0003c0003t0009g0014
a0003c0003t0009g0062
a0003c0003t0009g0198
a0003c0003t0009g0199
a0003c0003t0009g0219
 19 HG01099.hp1
HG01884.hp1
HG02109.hp2
others(16): Show 
HG01099.hp1
HG01884.hp1
HG02109.hp2
HG02280.hp2
HG02647.hp2
HG02723.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp2
HG02896.hp1
HG02897.hp2
HG02976.hp1
HG03130.hp1
HG03453.hp2
HG03579.hp2
NA18906.hp1
NA19043.hp2
NA19240.hp1
NA20129.hp1
 intron_variant MODIFIER c.79-678A>G
c.79-678A>G
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 1/13 chr8 18076265
chr8:18076356 C
C
 T
T
 28 a0001c0001t0001g0072
a0001c0001t0004g0010
a0001c0001t0004g0011
others(25): Show 
a0001c0001t0001g0072
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0029
a0001c0001t0004g0065
a0001c0001t0004g0066
a0001c0001t0004g0067
a0001c0001t0004g0068
a0001c0001t0004g0069
a0001c0001t0004g0070
a0001c0001t0004g0071
a0001c0001t0004g0079
a0001c0001t0004g0080
a0001c0001t0004g0081
a0001c0001t0004g0083
a0001c0001t0004g0084
a0001c0001t0004g0089
a0001c0001t0004g0090
a0001c0001t0007g0058
a0001c0001t0007g0064
a0001c0001t0007g0073
a0001c0001t0007g0074
a0001c0001t0007g0075
a0001c0001t0007g0077
a0001c0001t0007g0078
a0001c0001t0020g0076
a0001c0001t0021g0057
a0001c0001t0022g0082
 35 HG00323.hp2
HG00438.hp2
HG01167.hp1
others(32): Show 
HG00323.hp2
HG00438.hp2
HG01167.hp1
HG01169.hp1
HG01257.hp2
HG01261.hp1
HG01361.hp1
HG01433.hp1
HG01496.hp1
HG01884.hp2
HG01952.hp1
HG02083.hp1
HG02257.hp1
HG02273.hp1
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG03195.hp1
HG03225.hp1
HG03540.hp1
HG04115.hp1
HG04204.hp1
HG06807.hp1
NA18612.hp1
NA18945.hp2
NA18949.hp2
NA18967.hp2
NA18972.hp1
NA18995.hp1
NA18999.hp1
NA19004.hp2
NA19043.hp1
NA19054.hp2
NA19086.hp1
NA19090.hp2
 intron_variant MODIFIER c.79-769G>A
c.79-769G>A
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 1/13 chr8 18076356
chr8:18076411 T
T
 G
G
 36 a0001c0001t0001g0072
a0001c0001t0004g0010
a0001c0001t0004g0011
others(33): Show 
a0001c0001t0001g0072
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0029
a0001c0001t0004g0065
a0001c0001t0004g0066
a0001c0001t0004g0067
a0001c0001t0004g0068
a0001c0001t0004g0069
a0001c0001t0004g0070
a0001c0001t0004g0071
a0001c0001t0004g0079
a0001c0001t0004g0080
a0001c0001t0004g0081
a0001c0001t0004g0083
a0001c0001t0004g0084
a0001c0001t0004g0089
a0001c0001t0004g0090
a0001c0001t0007g0058
a0001c0001t0007g0064
a0001c0001t0007g0073
a0001c0001t0007g0074
a0001c0001t0007g0075
a0001c0001t0007g0077
a0001c0001t0007g0078
a0001c0001t0007g0228
a0001c0001t0007g0229
a0001c0001t0007g0260
a0001c0001t0013g0281
a0001c0001t0020g0076
a0001c0001t0021g0057
a0001c0001t0022g0082
a0005c0005t0001g0213
a0005c0005t0011g0046
a0005c0005t0011g0211
a0005c0005t0011g0212
 44 HG00323.hp2
HG00438.hp2
HG01167.hp1
others(41): Show 
HG00323.hp2
HG00438.hp2
HG01167.hp1
HG01169.hp1
HG01257.hp2
HG01261.hp1
HG01361.hp1
HG01433.hp1
HG01496.hp1
HG01884.hp2
HG01952.hp1
HG02083.hp1
HG02257.hp1
HG02273.hp1
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02615.hp1
HG02630.hp1
HG02698.hp1
HG02698.hp2
HG02976.hp2
HG03017.hp1
HG03041.hp2
HG03195.hp1
HG03225.hp1
HG03540.hp1
HG03834.hp1
HG04115.hp1
HG04204.hp1
HG04228.hp2
HG06807.hp1
NA18612.hp1
NA18945.hp2
NA18949.hp2
NA18967.hp2
NA18972.hp1
NA18995.hp1
NA18999.hp1
NA19004.hp2
NA19043.hp1
NA19054.hp2
NA19086.hp1
NA19090.hp2
 intron_variant MODIFIER c.79-824A>C
c.79-824A>C
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 1/13 chr8 18076411
chr8:18076452 G
G
 C
C
 1 a0001c0001t0002g0251
a0001c0001t0002g0251
 1 HG02027.hp2
HG02027.hp2
 intron_variant MODIFIER c.79-865C>G
c.79-865C>G
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 1/13 chr8 18076452
chr8:18076453 T
T
 C
C
 3 a0002c0002t0002g0038
a0002c0002t0002g0156
a0002c0002t0002g0157
a0002c0002t0002g0038
a0002c0002t0002g0156
a0002c0002t0002g0157
 4 HG00323.hp1
HG01192.hp2
HG01256.hp1
others(1): Show 
HG00323.hp1
HG01192.hp2
HG01256.hp1
HG01258.hp2
 intron_variant MODIFIER c.79-866A>G
c.79-866A>G
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 1/13 chr8 18076453
chr8:18076520 T
T
 C
C
 36 a0001c0001t0001g0072
a0001c0001t0004g0010
a0001c0001t0004g0011
others(33): Show 
a0001c0001t0001g0072
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0029
a0001c0001t0004g0065
a0001c0001t0004g0066
a0001c0001t0004g0067
a0001c0001t0004g0068
a0001c0001t0004g0069
a0001c0001t0004g0070
a0001c0001t0004g0071
a0001c0001t0004g0079
a0001c0001t0004g0080
a0001c0001t0004g0081
a0001c0001t0004g0083
a0001c0001t0004g0084
a0001c0001t0004g0089
a0001c0001t0004g0090
a0001c0001t0007g0058
a0001c0001t0007g0064
a0001c0001t0007g0073
a0001c0001t0007g0074
a0001c0001t0007g0075
a0001c0001t0007g0077
a0001c0001t0007g0078
a0001c0001t0007g0228
a0001c0001t0007g0229
a0001c0001t0007g0260
a0001c0001t0013g0281
a0001c0001t0020g0076
a0001c0001t0021g0057
a0001c0001t0022g0082
a0005c0005t0001g0213
a0005c0005t0011g0046
a0005c0005t0011g0211
a0005c0005t0011g0212
 44 HG00323.hp2
HG00438.hp2
HG01167.hp1
others(41): Show 
HG00323.hp2
HG00438.hp2
HG01167.hp1
HG01169.hp1
HG01257.hp2
HG01261.hp1
HG01361.hp1
HG01433.hp1
HG01496.hp1
HG01884.hp2
HG01952.hp1
HG02083.hp1
HG02257.hp1
HG02273.hp1
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02615.hp1
HG02630.hp1
HG02698.hp1
HG02698.hp2
HG02976.hp2
HG03017.hp1
HG03041.hp2
HG03195.hp1
HG03225.hp1
HG03540.hp1
HG03834.hp1
HG04115.hp1
HG04204.hp1
HG04228.hp2
HG06807.hp1
NA18612.hp1
NA18945.hp2
NA18949.hp2
NA18967.hp2
NA18972.hp1
NA18995.hp1
NA18999.hp1
NA19004.hp2
NA19043.hp1
NA19054.hp2
NA19086.hp1
NA19090.hp2
 intron_variant MODIFIER c.79-933A>G
c.79-933A>G
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 1/13 chr8 18076520
chr8:18076540 C
C
 G
G
 1 a0003c0003t0008g0085
a0003c0003t0008g0085
 1 HG02976.hp1
HG02976.hp1
 intron_variant MODIFIER c.79-953G>C
c.79-953G>C
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 1/13 chr8 18076540
chr8:18076552 C
C
 CT
CT
 36 a0001c0001t0001g0072
a0001c0001t0004g0010
a0001c0001t0004g0011
others(33): Show 
a0001c0001t0001g0072
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0029
a0001c0001t0004g0065
a0001c0001t0004g0066
a0001c0001t0004g0067
a0001c0001t0004g0068
a0001c0001t0004g0069
a0001c0001t0004g0070
a0001c0001t0004g0071
a0001c0001t0004g0079
a0001c0001t0004g0080
a0001c0001t0004g0081
a0001c0001t0004g0083
a0001c0001t0004g0084
a0001c0001t0004g0089
a0001c0001t0004g0090
a0001c0001t0007g0058
a0001c0001t0007g0064
a0001c0001t0007g0073
a0001c0001t0007g0074
a0001c0001t0007g0075
a0001c0001t0007g0077
a0001c0001t0007g0078
a0001c0001t0007g0228
a0001c0001t0007g0229
a0001c0001t0007g0260
a0001c0001t0013g0281
a0001c0001t0020g0076
a0001c0001t0021g0057
a0001c0001t0022g0082
a0005c0005t0001g0213
a0005c0005t0011g0046
a0005c0005t0011g0211
a0005c0005t0011g0212
 44 HG00323.hp2
HG00438.hp2
HG01167.hp1
others(41): Show 
HG00323.hp2
HG00438.hp2
HG01167.hp1
HG01169.hp1
HG01257.hp2
HG01261.hp1
HG01361.hp1
HG01433.hp1
HG01496.hp1
HG01884.hp2
HG01952.hp1
HG02083.hp1
HG02257.hp1
HG02273.hp1
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02615.hp1
HG02630.hp1
HG02698.hp1
HG02698.hp2
HG02976.hp2
HG03017.hp1
HG03041.hp2
HG03195.hp1
HG03225.hp1
HG03540.hp1
HG03834.hp1
HG04115.hp1
HG04204.hp1
HG04228.hp2
HG06807.hp1
NA18612.hp1
NA18945.hp2
NA18949.hp2
NA18967.hp2
NA18972.hp1
NA18995.hp1
NA18999.hp1
NA19004.hp2
NA19043.hp1
NA19054.hp2
NA19086.hp1
NA19090.hp2
 intron_variant MODIFIER c.79-966dupA
c.79-966dupA
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 1/13 chr8 18076552
chr8:18076655 C
C
 G
G
 1 a0002c0002t0003g0103
a0002c0002t0003g0103
 1 NA18999.hp2
NA18999.hp2
 intron_variant MODIFIER c.79-1068G>C
c.79-1068G>C
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 1/13 chr8 18076655
chr8:18076668 C
C
 T
T
 1 a0006c0006t0003g0234
a0006c0006t0003g0234
 1 NA19010.hp1
NA19010.hp1
 intron_variant MODIFIER c.79-1081G>A
c.79-1081G>A
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 1/13 chr8 18076668
chr8:18076670 T
T
 G
G
 36 a0001c0001t0001g0072
a0001c0001t0004g0010
a0001c0001t0004g0011
others(33): Show 
a0001c0001t0001g0072
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0029
a0001c0001t0004g0065
a0001c0001t0004g0066
a0001c0001t0004g0067
a0001c0001t0004g0068
a0001c0001t0004g0069
a0001c0001t0004g0070
a0001c0001t0004g0071
a0001c0001t0004g0079
a0001c0001t0004g0080
a0001c0001t0004g0081
a0001c0001t0004g0083
a0001c0001t0004g0084
a0001c0001t0004g0089
a0001c0001t0004g0090
a0001c0001t0007g0058
a0001c0001t0007g0064
a0001c0001t0007g0073
a0001c0001t0007g0074
a0001c0001t0007g0075
a0001c0001t0007g0077
a0001c0001t0007g0078
a0001c0001t0007g0228
a0001c0001t0007g0229
a0001c0001t0007g0260
a0001c0001t0013g0281
a0001c0001t0020g0076
a0001c0001t0021g0057
a0001c0001t0022g0082
a0005c0005t0001g0213
a0005c0005t0011g0046
a0005c0005t0011g0211
a0005c0005t0011g0212
 44 HG00323.hp2
HG00438.hp2
HG01167.hp1
others(41): Show 
HG00323.hp2
HG00438.hp2
HG01167.hp1
HG01169.hp1
HG01257.hp2
HG01261.hp1
HG01361.hp1
HG01433.hp1
HG01496.hp1
HG01884.hp2
HG01952.hp1
HG02083.hp1
HG02257.hp1
HG02273.hp1
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02615.hp1
HG02630.hp1
HG02698.hp1
HG02698.hp2
HG02976.hp2
HG03017.hp1
HG03041.hp2
HG03195.hp1
HG03225.hp1
HG03540.hp1
HG03834.hp1
HG04115.hp1
HG04204.hp1
HG04228.hp2
HG06807.hp1
NA18612.hp1
NA18945.hp2
NA18949.hp2
NA18967.hp2
NA18972.hp1
NA18995.hp1
NA18999.hp1
NA19004.hp2
NA19043.hp1
NA19054.hp2
NA19086.hp1
NA19090.hp2
 intron_variant MODIFIER c.79-1083A>C
c.79-1083A>C
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 1/13 chr8 18076670
chr8:18076678 G
G
 T
T
 1 a0003c0003t0005g0277
a0003c0003t0005g0277
 1 HG03453.hp1
HG03453.hp1
 intron_variant MODIFIER c.79-1091C>A
c.79-1091C>A
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 1/13 chr8 18076678
chr8:18076699 T
T
 G
G
 1 a0003c0003t0013g0271
a0003c0003t0013g0271
 1 HG02451.hp1
HG02451.hp1
 intron_variant MODIFIER c.79-1112A>C
c.79-1112A>C
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 1/13 chr8 18076699
chr8:18076746 C
C
 T
T
 2 a0002c0002t0002g0137
a0002c0002t0002g0138
a0002c0002t0002g0137
a0002c0002t0002g0138
 2 HG02622.hp1
HG02922.hp2
HG02622.hp1
HG02922.hp2
 intron_variant MODIFIER c.79-1159G>A
c.79-1159G>A
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 1/13 chr8 18076746
chr8:18076813 C
C
 T
T
 33 a0001c0001t0001g0072
a0001c0001t0004g0010
a0001c0001t0004g0011
others(30): Show 
a0001c0001t0001g0072
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0029
a0001c0001t0004g0065
a0001c0001t0004g0066
a0001c0001t0004g0067
a0001c0001t0004g0068
a0001c0001t0004g0069
a0001c0001t0004g0070
a0001c0001t0004g0071
a0001c0001t0004g0079
a0001c0001t0004g0080
a0001c0001t0004g0081
a0001c0001t0004g0083
a0001c0001t0004g0084
a0001c0001t0004g0089
a0001c0001t0004g0090
a0001c0001t0007g0058
a0001c0001t0007g0064
a0001c0001t0007g0073
a0001c0001t0007g0074
a0001c0001t0007g0075
a0001c0001t0007g0077
a0001c0001t0007g0078
a0001c0001t0013g0281
a0001c0001t0020g0076
a0001c0001t0021g0057
a0001c0001t0022g0082
a0005c0005t0001g0213
a0005c0005t0011g0046
a0005c0005t0011g0211
a0005c0005t0011g0212
 41 HG00323.hp2
HG00438.hp2
HG01167.hp1
others(38): Show 
HG00323.hp2
HG00438.hp2
HG01167.hp1
HG01169.hp1
HG01257.hp2
HG01261.hp1
HG01361.hp1
HG01433.hp1
HG01496.hp1
HG01884.hp2
HG01952.hp1
HG02083.hp1
HG02257.hp1
HG02273.hp1
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02698.hp1
HG02698.hp2
HG02976.hp2
HG03017.hp1
HG03195.hp1
HG03225.hp1
HG03540.hp1
HG03834.hp1
HG04115.hp1
HG04204.hp1
HG04228.hp2
HG06807.hp1
NA18612.hp1
NA18945.hp2
NA18949.hp2
NA18967.hp2
NA18972.hp1
NA18995.hp1
NA18999.hp1
NA19004.hp2
NA19043.hp1
NA19054.hp2
NA19086.hp1
NA19090.hp2
 intron_variant MODIFIER c.79-1226G>A
c.79-1226G>A
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 1/13 chr8 18076813
chr8:18076878 C
C
 T
T
 1 a0001c0007t0023g0279
a0001c0007t0023g0279
 1 HG02257.hp2
HG02257.hp2
 intron_variant MODIFIER c.79-1291G>A
c.79-1291G>A
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 1/13 chr8 18076878
chr8:18076907 T
T
 C
C
 1 a0002c0002t0002g0285
a0002c0002t0002g0285
 1 NA18966.hp2
NA18966.hp2
 intron_variant MODIFIER c.79-1320A>G
c.79-1320A>G
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 1/13 chr8 18076907
chr8:18076950 G
G
 A
A
 1 a0001c0001t0006g0224
a0001c0001t0006g0224
 1 NA18986.hp2
NA18986.hp2
 intron_variant MODIFIER c.79-1363C>T
c.79-1363C>T
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 1/13 chr8 18076950
chr8:18076951 T
T
 C
C
 1 a0002c0002t0002g0028
a0002c0002t0002g0028
 2 HG03098.hp2
HG03486.hp1
HG03098.hp2
HG03486.hp1
 intron_variant MODIFIER c.79-1364A>G
c.79-1364A>G
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 1/13 chr8 18076951
chr8:18077133 GGATATCC
others(13): Show 
GGATATCCGGCCTCTATTTCT
 G
G
 1 a0002c0002t0002g0038
a0002c0002t0002g0038
 2 HG00323.hp1
HG01192.hp2
HG00323.hp1
HG01192.hp2
 intron_variant MODIFIER c.79-1566_79-1547del
others(20): Show 
c.79-1566_79-1547delAGAAATAGAGGCCGGATATC
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 1/13 chr8 18077133
chr8:18077344 C
C
 T
T
 4 a0005c0005t0001g0213
a0005c0005t0011g0046
a0005c0005t0011g0211
others(1): Show 
a0005c0005t0001g0213
a0005c0005t0011g0046
a0005c0005t0011g0211
a0005c0005t0011g0212
 5 HG02698.hp1
HG02698.hp2
HG03017.hp1
others(2): Show 
HG02698.hp1
HG02698.hp2
HG03017.hp1
HG03834.hp1
HG04228.hp2
 intron_variant MODIFIER c.79-1757G>A
c.79-1757G>A
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 1/13 chr8 18077344
chr8:18077520 A
A
 T
T
 108 a0001c0001t0001g0153
a0001c0001t0001g0226
a0001c0001t0001g0257
others(105): Show 
a0001c0001t0001g0153
a0001c0001t0001g0226
a0001c0001t0001g0257
a0001c0001t0001g0284
a0001c0001t0002g0216
a0001c0001t0002g0220
a0001c0001t0002g0235
a0001c0001t0002g0251
a0001c0001t0006g0047
a0001c0001t0006g0154
a0001c0001t0006g0215
a0001c0001t0006g0217
a0001c0001t0006g0221
a0001c0001t0006g0222
a0001c0001t0006g0224
a0001c0001t0006g0225
a0001c0001t0006g0227
a0001c0001t0014g0027
a0001c0007t0023g0279
a0001c0008t0006g0218
a0002c0002t0001g0013
a0002c0002t0001g0032
a0002c0002t0001g0136
a0002c0002t0001g0150
a0002c0002t0002g0001
a0002c0002t0002g0008
a0002c0002t0002g0017
a0002c0002t0002g0018
a0002c0002t0002g0021
a0002c0002t0002g0028
a0002c0002t0002g0034
a0002c0002t0002g0035
a0002c0002t0002g0036
a0002c0002t0002g0037
a0002c0002t0002g0038
a0002c0002t0002g0039
a0002c0002t0002g0055
a0002c0002t0002g0092
a0002c0002t0002g0093
a0002c0002t0002g0099
a0002c0002t0002g0100
a0002c0002t0002g0120
a0002c0002t0002g0131
a0002c0002t0002g0132
a0002c0002t0002g0133
a0002c0002t0002g0135
a0002c0002t0002g0137
a0002c0002t0002g0138
a0002c0002t0002g0139
a0002c0002t0002g0140
a0002c0002t0002g0141
a0002c0002t0002g0142
a0002c0002t0002g0143
a0002c0002t0002g0144
a0002c0002t0002g0145
a0002c0002t0002g0146
a0002c0002t0002g0148
a0002c0002t0002g0149
a0002c0002t0002g0151
a0002c0002t0002g0152
a0002c0002t0002g0155
a0002c0002t0002g0209
a0002c0002t0002g0240
a0002c0002t0002g0258
a0002c0002t0002g0285
a0002c0002t0003g0004
a0002c0002t0003g0031
a0002c0002t0003g0048
a0002c0002t0003g0049
a0002c0002t0003g0059
a0002c0002t0003g0060
a0002c0002t0003g0061
a0002c0002t0003g0091
a0002c0002t0003g0095
a0002c0002t0003g0096
a0002c0002t0003g0097
a0002c0002t0003g0098
a0002c0002t0003g0118
a0002c0002t0003g0134
a0002c0002t0003g0210
a0002c0002t0003g0232
a0002c0002t0003g0233
a0002c0002t0003g0236
a0002c0002t0003g0237
a0002c0002t0003g0238
a0002c0002t0003g0239
a0002c0002t0003g0244
a0002c0002t0003g0245
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0248
a0002c0002t0003g0250
a0002c0002t0003g0253
a0002c0002t0003g0255
a0002c0002t0005g0241
a0002c0002t0006g0147
a0002c0002t0019g0243
a0002c0002t0027g0242
a0002c0002t0028g0249
a0002c0002t0030g0254
a0002c0002t0033g0053
a0002c0002t0035g0286
a0003c0003t0002g0223
a0003c0003t0005g0056
a0003c0003t0008g0022
a0003c0003t0013g0271
a0006c0006t0003g0023
a0006c0006t0003g0234
 161 HG00140.hp2
HG00280.hp1
HG00323.hp1
others(158): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp1
HG00423.hp2
HG00558.hp1
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00642.hp1
HG00738.hp1
HG00741.hp2
HG01070.hp2
HG01099.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01243.hp2
HG01255.hp2
HG01257.hp1
HG01258.hp1
HG01358.hp1
HG01361.hp2
HG01516.hp2
HG01517.hp1
HG01943.hp2
HG01975.hp2
HG01978.hp1
HG02027.hp2
HG02040.hp1
HG02056.hp2
HG02071.hp1
HG02074.hp2
HG02080.hp2
HG02083.hp2
HG02129.hp2
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02148.hp1
HG02257.hp2
HG02273.hp2
HG02300.hp2
HG02451.hp1
HG02486.hp1
HG02523.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02622.hp1
HG02683.hp1
HG02735.hp1
HG02738.hp2
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03098.hp1
HG03098.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03492.hp2
HG03669.hp2
HG03688.hp2
HG03704.hp1
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp2
HG04204.hp2
HG06807.hp2
NA18747.hp1
NA18906.hp1
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18947.hp1
NA18949.hp1
NA18950.hp1
NA18952.hp1
NA18953.hp2
NA18954.hp2
NA18959.hp1
NA18960.hp2
NA18963.hp1
NA18965.hp1
NA18965.hp2
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18975.hp2
NA18977.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18981.hp1
NA18982.hp2
NA18983.hp1
NA18984.hp2
NA18986.hp2
NA18991.hp1
NA18992.hp2
NA18993.hp1
NA18995.hp2
NA18998.hp1
NA19010.hp1
NA19011.hp1
NA19054.hp1
NA19056.hp1
NA19058.hp1
NA19060.hp1
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp2
NA19076.hp2
NA19077.hp1
NA19081.hp2
NA19083.hp2
NA19086.hp2
NA19087.hp1
NA20129.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp2
NA21309.hp1
 intron_variant MODIFIER c.79-1933T>A
c.79-1933T>A
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 1/13 chr8 18077520
chr8:18077570 G
G
 A
A
 3 a0001c0001t0004g0029
a0001c0001t0004g0081
a0001c0001t0022g0082
a0001c0001t0004g0029
a0001c0001t0004g0081
a0001c0001t0022g0082
 4 HG03225.hp1
HG03540.hp1
HG06807.hp1
others(1): Show 
HG03225.hp1
HG03540.hp1
HG06807.hp1
NA19043.hp1
 intron_variant MODIFIER c.79-1983C>T
c.79-1983C>T
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 1/13 chr8 18077570
chr8:18077595 C
C
 A
A
 108 a0001c0001t0001g0153
a0001c0001t0001g0226
a0001c0001t0001g0257
others(105): Show 
a0001c0001t0001g0153
a0001c0001t0001g0226
a0001c0001t0001g0257
a0001c0001t0001g0284
a0001c0001t0002g0216
a0001c0001t0002g0220
a0001c0001t0002g0235
a0001c0001t0002g0251
a0001c0001t0006g0047
a0001c0001t0006g0154
a0001c0001t0006g0215
a0001c0001t0006g0217
a0001c0001t0006g0221
a0001c0001t0006g0222
a0001c0001t0006g0224
a0001c0001t0006g0225
a0001c0001t0006g0227
a0001c0001t0014g0027
a0001c0007t0023g0279
a0001c0008t0006g0218
a0002c0002t0001g0013
a0002c0002t0001g0032
a0002c0002t0001g0136
a0002c0002t0001g0150
a0002c0002t0002g0001
a0002c0002t0002g0008
a0002c0002t0002g0017
a0002c0002t0002g0018
a0002c0002t0002g0021
a0002c0002t0002g0028
a0002c0002t0002g0034
a0002c0002t0002g0035
a0002c0002t0002g0036
a0002c0002t0002g0037
a0002c0002t0002g0038
a0002c0002t0002g0039
a0002c0002t0002g0055
a0002c0002t0002g0092
a0002c0002t0002g0093
a0002c0002t0002g0099
a0002c0002t0002g0100
a0002c0002t0002g0120
a0002c0002t0002g0131
a0002c0002t0002g0132
a0002c0002t0002g0133
a0002c0002t0002g0135
a0002c0002t0002g0137
a0002c0002t0002g0138
a0002c0002t0002g0139
a0002c0002t0002g0140
a0002c0002t0002g0141
a0002c0002t0002g0142
a0002c0002t0002g0143
a0002c0002t0002g0144
a0002c0002t0002g0145
a0002c0002t0002g0146
a0002c0002t0002g0148
a0002c0002t0002g0149
a0002c0002t0002g0151
a0002c0002t0002g0152
a0002c0002t0002g0155
a0002c0002t0002g0209
a0002c0002t0002g0240
a0002c0002t0002g0258
a0002c0002t0002g0285
a0002c0002t0003g0004
a0002c0002t0003g0031
a0002c0002t0003g0048
a0002c0002t0003g0049
a0002c0002t0003g0059
a0002c0002t0003g0060
a0002c0002t0003g0061
a0002c0002t0003g0091
a0002c0002t0003g0095
a0002c0002t0003g0096
a0002c0002t0003g0097
a0002c0002t0003g0098
a0002c0002t0003g0118
a0002c0002t0003g0134
a0002c0002t0003g0210
a0002c0002t0003g0232
a0002c0002t0003g0233
a0002c0002t0003g0236
a0002c0002t0003g0237
a0002c0002t0003g0238
a0002c0002t0003g0239
a0002c0002t0003g0244
a0002c0002t0003g0245
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0248
a0002c0002t0003g0250
a0002c0002t0003g0253
a0002c0002t0003g0255
a0002c0002t0005g0241
a0002c0002t0006g0147
a0002c0002t0019g0243
a0002c0002t0027g0242
a0002c0002t0028g0249
a0002c0002t0030g0254
a0002c0002t0033g0053
a0002c0002t0035g0286
a0003c0003t0002g0223
a0003c0003t0005g0056
a0003c0003t0008g0022
a0003c0003t0013g0271
a0006c0006t0003g0023
a0006c0006t0003g0234
 161 HG00140.hp2
HG00280.hp1
HG00323.hp1
others(158): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp1
HG00423.hp2
HG00558.hp1
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00642.hp1
HG00738.hp1
HG00741.hp2
HG01070.hp2
HG01099.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01243.hp2
HG01255.hp2
HG01257.hp1
HG01258.hp1
HG01358.hp1
HG01361.hp2
HG01516.hp2
HG01517.hp1
HG01943.hp2
HG01975.hp2
HG01978.hp1
HG02027.hp2
HG02040.hp1
HG02056.hp2
HG02071.hp1
HG02074.hp2
HG02080.hp2
HG02083.hp2
HG02129.hp2
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02148.hp1
HG02257.hp2
HG02273.hp2
HG02300.hp2
HG02451.hp1
HG02486.hp1
HG02523.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02622.hp1
HG02683.hp1
HG02735.hp1
HG02738.hp2
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03098.hp1
HG03098.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03492.hp2
HG03669.hp2
HG03688.hp2
HG03704.hp1
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp2
HG04204.hp2
HG06807.hp2
NA18747.hp1
NA18906.hp1
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18947.hp1
NA18949.hp1
NA18950.hp1
NA18952.hp1
NA18953.hp2
NA18954.hp2
NA18959.hp1
NA18960.hp2
NA18963.hp1
NA18965.hp1
NA18965.hp2
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18975.hp2
NA18977.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18981.hp1
NA18982.hp2
NA18983.hp1
NA18984.hp2
NA18986.hp2
NA18991.hp1
NA18992.hp2
NA18993.hp1
NA18995.hp2
NA18998.hp1
NA19010.hp1
NA19011.hp1
NA19054.hp1
NA19056.hp1
NA19058.hp1
NA19060.hp1
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp2
NA19076.hp2
NA19077.hp1
NA19081.hp2
NA19083.hp2
NA19086.hp2
NA19087.hp1
NA20129.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp2
NA21309.hp1
 intron_variant MODIFIER c.79-2008G>T
c.79-2008G>T
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 1/13 chr8 18077595
chr8:18077654 A
A
 G
G
 1 a0001c0007t0023g0279
a0001c0007t0023g0279
 1 HG02257.hp2
HG02257.hp2
 intron_variant MODIFIER c.79-2067T>C
c.79-2067T>C
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 1/13 chr8 18077654
chr8:18077890 T
T
 A
A
 1 a0002c0002t0002g0149
a0002c0002t0002g0149
 1 NA18963.hp1
NA18963.hp1
 intron_variant MODIFIER c.79-2303A>T
c.79-2303A>T
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 1/13 chr8 18077890
chr8:18077916 A
A
 T
T
 2 a0001c0001t0002g0165
a0001c0001t0002g0166
a0001c0001t0002g0165
a0001c0001t0002g0166
 2 HG01081.hp2
HG01109.hp1
HG01081.hp2
HG01109.hp1
 intron_variant MODIFIER c.79-2329T>A
c.79-2329T>A
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 1/13 chr8 18077916
chr8:18077983 T
T
 C
C
 110 a0001c0001t0001g0153
a0001c0001t0001g0226
a0001c0001t0001g0257
others(107): Show 
a0001c0001t0001g0153
a0001c0001t0001g0226
a0001c0001t0001g0257
a0001c0001t0001g0284
a0001c0001t0002g0216
a0001c0001t0002g0220
a0001c0001t0002g0235
a0001c0001t0002g0251
a0001c0001t0006g0047
a0001c0001t0006g0154
a0001c0001t0006g0215
a0001c0001t0006g0217
a0001c0001t0006g0221
a0001c0001t0006g0222
a0001c0001t0006g0224
a0001c0001t0006g0225
a0001c0001t0006g0227
a0001c0001t0014g0027
a0001c0007t0023g0279
a0001c0008t0006g0218
a0002c0002t0001g0013
a0002c0002t0001g0032
a0002c0002t0001g0136
a0002c0002t0001g0150
a0002c0002t0002g0001
a0002c0002t0002g0008
a0002c0002t0002g0017
a0002c0002t0002g0018
a0002c0002t0002g0021
a0002c0002t0002g0028
a0002c0002t0002g0034
a0002c0002t0002g0035
a0002c0002t0002g0036
a0002c0002t0002g0037
a0002c0002t0002g0038
a0002c0002t0002g0039
a0002c0002t0002g0055
a0002c0002t0002g0092
a0002c0002t0002g0093
a0002c0002t0002g0099
a0002c0002t0002g0100
a0002c0002t0002g0120
a0002c0002t0002g0131
a0002c0002t0002g0132
a0002c0002t0002g0133
a0002c0002t0002g0135
a0002c0002t0002g0137
a0002c0002t0002g0138
a0002c0002t0002g0139
a0002c0002t0002g0140
a0002c0002t0002g0141
a0002c0002t0002g0142
a0002c0002t0002g0143
a0002c0002t0002g0144
a0002c0002t0002g0145
a0002c0002t0002g0146
a0002c0002t0002g0148
a0002c0002t0002g0149
a0002c0002t0002g0151
a0002c0002t0002g0152
a0002c0002t0002g0155
a0002c0002t0002g0156
a0002c0002t0002g0157
a0002c0002t0002g0209
a0002c0002t0002g0240
a0002c0002t0002g0258
a0002c0002t0002g0285
a0002c0002t0003g0004
a0002c0002t0003g0031
a0002c0002t0003g0048
a0002c0002t0003g0049
a0002c0002t0003g0059
a0002c0002t0003g0060
a0002c0002t0003g0061
a0002c0002t0003g0091
a0002c0002t0003g0095
a0002c0002t0003g0096
a0002c0002t0003g0097
a0002c0002t0003g0098
a0002c0002t0003g0118
a0002c0002t0003g0134
a0002c0002t0003g0210
a0002c0002t0003g0232
a0002c0002t0003g0233
a0002c0002t0003g0236
a0002c0002t0003g0237
a0002c0002t0003g0238
a0002c0002t0003g0239
a0002c0002t0003g0244
a0002c0002t0003g0245
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0248
a0002c0002t0003g0250
a0002c0002t0003g0253
a0002c0002t0003g0255
a0002c0002t0005g0241
a0002c0002t0006g0147
a0002c0002t0019g0243
a0002c0002t0027g0242
a0002c0002t0028g0249
a0002c0002t0030g0254
a0002c0002t0033g0053
a0002c0002t0035g0286
a0003c0003t0002g0223
a0003c0003t0005g0056
a0003c0003t0008g0022
a0003c0003t0013g0271
a0006c0006t0003g0023
a0006c0006t0003g0234
 163 HG00140.hp2
HG00280.hp1
HG00323.hp1
others(160): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp1
HG00423.hp2
HG00558.hp1
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00642.hp1
HG00738.hp1
HG00741.hp2
HG01070.hp2
HG01099.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01243.hp2
HG01255.hp2
HG01256.hp1
HG01257.hp1
HG01258.hp1
HG01258.hp2
HG01358.hp1
HG01361.hp2
HG01516.hp2
HG01517.hp1
HG01943.hp2
HG01975.hp2
HG01978.hp1
HG02027.hp2
HG02040.hp1
HG02056.hp2
HG02071.hp1
HG02074.hp2
HG02080.hp2
HG02083.hp2
HG02129.hp2
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02148.hp1
HG02257.hp2
HG02273.hp2
HG02300.hp2
HG02451.hp1
HG02486.hp1
HG02523.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02622.hp1
HG02683.hp1
HG02735.hp1
HG02738.hp2
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03098.hp1
HG03098.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03492.hp2
HG03669.hp2
HG03688.hp2
HG03704.hp1
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp2
HG04204.hp2
HG06807.hp2
NA18747.hp1
NA18906.hp1
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18947.hp1
NA18949.hp1
NA18950.hp1
NA18952.hp1
NA18953.hp2
NA18954.hp2
NA18959.hp1
NA18960.hp2
NA18963.hp1
NA18965.hp1
NA18965.hp2
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18975.hp2
NA18977.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18981.hp1
NA18982.hp2
NA18983.hp1
NA18984.hp2
NA18986.hp2
NA18991.hp1
NA18992.hp2
NA18993.hp1
NA18995.hp2
NA18998.hp1
NA19010.hp1
NA19011.hp1
NA19054.hp1
NA19056.hp1
NA19058.hp1
NA19060.hp1
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp2
NA19076.hp2
NA19077.hp1
NA19081.hp2
NA19083.hp2
NA19086.hp2
NA19087.hp1
NA20129.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp2
NA21309.hp1
 intron_variant MODIFIER c.79-2396A>G
c.79-2396A>G
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 1/13 chr8 18077983
chr8:18078060 A
A
 G
G
 1 a0002c0002t0003g0273
a0002c0002t0003g0273
 1 HG03579.hp1
HG03579.hp1
 intron_variant MODIFIER c.79-2473T>C
c.79-2473T>C
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 1/13 chr8 18078060
chr8:18078061 T
T
 C
C
 1 a0001c0001t0002g0200
a0001c0001t0002g0200
 1 NA19082.hp2
NA19082.hp2
 intron_variant MODIFIER c.79-2474A>G
c.79-2474A>G
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 1/13 chr8 18078061
chr8:18078088 A
A
 C
C
 1 a0001c0007t0023g0279
a0001c0007t0023g0279
 1 HG02257.hp2
HG02257.hp2
 intron_variant MODIFIER c.79-2501T>G
c.79-2501T>G
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 1/13 chr8 18078088
chr8:18078133 A
A
 C
C
 108 a0001c0001t0001g0153
a0001c0001t0001g0226
a0001c0001t0001g0257
others(105): Show 
a0001c0001t0001g0153
a0001c0001t0001g0226
a0001c0001t0001g0257
a0001c0001t0001g0284
a0001c0001t0002g0216
a0001c0001t0002g0220
a0001c0001t0002g0235
a0001c0001t0002g0251
a0001c0001t0006g0047
a0001c0001t0006g0154
a0001c0001t0006g0215
a0001c0001t0006g0217
a0001c0001t0006g0221
a0001c0001t0006g0222
a0001c0001t0006g0224
a0001c0001t0006g0225
a0001c0001t0006g0227
a0001c0001t0014g0027
a0001c0007t0023g0279
a0001c0008t0006g0218
a0002c0002t0001g0013
a0002c0002t0001g0032
a0002c0002t0001g0136
a0002c0002t0001g0150
a0002c0002t0002g0001
a0002c0002t0002g0008
a0002c0002t0002g0017
a0002c0002t0002g0018
a0002c0002t0002g0021
a0002c0002t0002g0028
a0002c0002t0002g0034
a0002c0002t0002g0035
a0002c0002t0002g0036
a0002c0002t0002g0037
a0002c0002t0002g0038
a0002c0002t0002g0039
a0002c0002t0002g0055
a0002c0002t0002g0092
a0002c0002t0002g0093
a0002c0002t0002g0099
a0002c0002t0002g0100
a0002c0002t0002g0120
a0002c0002t0002g0131
a0002c0002t0002g0132
a0002c0002t0002g0133
a0002c0002t0002g0135
a0002c0002t0002g0137
a0002c0002t0002g0138
a0002c0002t0002g0139
a0002c0002t0002g0140
a0002c0002t0002g0141
a0002c0002t0002g0142
a0002c0002t0002g0143
a0002c0002t0002g0144
a0002c0002t0002g0145
a0002c0002t0002g0146
a0002c0002t0002g0148
a0002c0002t0002g0149
a0002c0002t0002g0151
a0002c0002t0002g0152
a0002c0002t0002g0155
a0002c0002t0002g0209
a0002c0002t0002g0240
a0002c0002t0002g0258
a0002c0002t0002g0285
a0002c0002t0003g0004
a0002c0002t0003g0031
a0002c0002t0003g0048
a0002c0002t0003g0049
a0002c0002t0003g0059
a0002c0002t0003g0060
a0002c0002t0003g0061
a0002c0002t0003g0091
a0002c0002t0003g0095
a0002c0002t0003g0096
a0002c0002t0003g0097
a0002c0002t0003g0098
a0002c0002t0003g0118
a0002c0002t0003g0134
a0002c0002t0003g0160
a0002c0002t0003g0210
a0002c0002t0003g0232
a0002c0002t0003g0233
a0002c0002t0003g0236
a0002c0002t0003g0237
a0002c0002t0003g0238
a0002c0002t0003g0239
a0002c0002t0003g0244
a0002c0002t0003g0245
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0248
a0002c0002t0003g0250
a0002c0002t0003g0253
a0002c0002t0003g0255
a0002c0002t0005g0241
a0002c0002t0006g0147
a0002c0002t0019g0243
a0002c0002t0027g0242
a0002c0002t0028g0249
a0002c0002t0030g0254
a0002c0002t0033g0053
a0002c0002t0035g0286
a0003c0003t0002g0223
a0003c0003t0005g0056
a0003c0003t0008g0022
a0006c0006t0003g0023
a0006c0006t0003g0234
 161 HG00140.hp2
HG00280.hp1
HG00323.hp1
others(158): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp1
HG00423.hp2
HG00558.hp1
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00642.hp1
HG00738.hp1
HG00741.hp2
HG01070.hp2
HG01099.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01243.hp2
HG01255.hp2
HG01257.hp1
HG01258.hp1
HG01358.hp1
HG01361.hp2
HG01516.hp2
HG01517.hp1
HG01943.hp2
HG01975.hp2
HG01978.hp1
HG02027.hp2
HG02040.hp1
HG02056.hp2
HG02071.hp1
HG02074.hp2
HG02080.hp2
HG02083.hp2
HG02129.hp2
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02148.hp1
HG02257.hp2
HG02273.hp2
HG02300.hp2
HG02486.hp1
HG02523.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02622.hp1
HG02683.hp1
HG02735.hp1
HG02738.hp2
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03098.hp1
HG03098.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03492.hp2
HG03669.hp2
HG03688.hp2
HG03704.hp1
HG03831.hp1
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp2
HG04204.hp2
HG06807.hp2
NA18747.hp1
NA18906.hp1
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18947.hp1
NA18949.hp1
NA18950.hp1
NA18952.hp1
NA18953.hp2
NA18954.hp2
NA18959.hp1
NA18960.hp2
NA18963.hp1
NA18965.hp1
NA18965.hp2
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18975.hp2
NA18977.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18981.hp1
NA18982.hp2
NA18983.hp1
NA18984.hp2
NA18986.hp2
NA18991.hp1
NA18992.hp2
NA18993.hp1
NA18995.hp2
NA18998.hp1
NA19010.hp1
NA19011.hp1
NA19054.hp1
NA19056.hp1
NA19058.hp1
NA19060.hp1
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp2
NA19076.hp2
NA19077.hp1
NA19081.hp2
NA19083.hp2
NA19086.hp2
NA19087.hp1
NA20129.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp2
NA21309.hp1
 intron_variant MODIFIER c.79-2546T>G
c.79-2546T>G
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 1/13 chr8 18078133
chr8:18078158 C
C
 T
T
 108 a0001c0001t0001g0153
a0001c0001t0001g0226
a0001c0001t0001g0257
others(105): Show 
a0001c0001t0001g0153
a0001c0001t0001g0226
a0001c0001t0001g0257
a0001c0001t0001g0284
a0001c0001t0002g0216
a0001c0001t0002g0220
a0001c0001t0002g0235
a0001c0001t0002g0251
a0001c0001t0006g0047
a0001c0001t0006g0154
a0001c0001t0006g0215
a0001c0001t0006g0217
a0001c0001t0006g0221
a0001c0001t0006g0222
a0001c0001t0006g0224
a0001c0001t0006g0225
a0001c0001t0006g0227
a0001c0001t0014g0027
a0001c0007t0023g0279
a0001c0008t0006g0218
a0002c0002t0001g0013
a0002c0002t0001g0032
a0002c0002t0001g0136
a0002c0002t0001g0150
a0002c0002t0002g0001
a0002c0002t0002g0008
a0002c0002t0002g0017
a0002c0002t0002g0018
a0002c0002t0002g0021
a0002c0002t0002g0028
a0002c0002t0002g0034
a0002c0002t0002g0035
a0002c0002t0002g0036
a0002c0002t0002g0037
a0002c0002t0002g0038
a0002c0002t0002g0039
a0002c0002t0002g0055
a0002c0002t0002g0092
a0002c0002t0002g0093
a0002c0002t0002g0099
a0002c0002t0002g0100
a0002c0002t0002g0120
a0002c0002t0002g0131
a0002c0002t0002g0132
a0002c0002t0002g0133
a0002c0002t0002g0135
a0002c0002t0002g0137
a0002c0002t0002g0138
a0002c0002t0002g0139
a0002c0002t0002g0140
a0002c0002t0002g0141
a0002c0002t0002g0142
a0002c0002t0002g0143
a0002c0002t0002g0144
a0002c0002t0002g0145
a0002c0002t0002g0146
a0002c0002t0002g0148
a0002c0002t0002g0149
a0002c0002t0002g0151
a0002c0002t0002g0152
a0002c0002t0002g0155
a0002c0002t0002g0209
a0002c0002t0002g0240
a0002c0002t0002g0258
a0002c0002t0002g0285
a0002c0002t0003g0004
a0002c0002t0003g0031
a0002c0002t0003g0048
a0002c0002t0003g0049
a0002c0002t0003g0059
a0002c0002t0003g0060
a0002c0002t0003g0061
a0002c0002t0003g0091
a0002c0002t0003g0095
a0002c0002t0003g0096
a0002c0002t0003g0097
a0002c0002t0003g0098
a0002c0002t0003g0118
a0002c0002t0003g0134
a0002c0002t0003g0160
a0002c0002t0003g0210
a0002c0002t0003g0232
a0002c0002t0003g0233
a0002c0002t0003g0236
a0002c0002t0003g0237
a0002c0002t0003g0238
a0002c0002t0003g0239
a0002c0002t0003g0244
a0002c0002t0003g0245
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0248
a0002c0002t0003g0250
a0002c0002t0003g0253
a0002c0002t0003g0255
a0002c0002t0005g0241
a0002c0002t0006g0147
a0002c0002t0019g0243
a0002c0002t0027g0242
a0002c0002t0028g0249
a0002c0002t0030g0254
a0002c0002t0033g0053
a0002c0002t0035g0286
a0003c0003t0002g0223
a0003c0003t0005g0056
a0003c0003t0008g0022
a0006c0006t0003g0023
a0006c0006t0003g0234
 161 HG00140.hp2
HG00280.hp1
HG00323.hp1
others(158): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp1
HG00423.hp2
HG00558.hp1
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00642.hp1
HG00738.hp1
HG00741.hp2
HG01070.hp2
HG01099.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01243.hp2
HG01255.hp2
HG01257.hp1
HG01258.hp1
HG01358.hp1
HG01361.hp2
HG01516.hp2
HG01517.hp1
HG01943.hp2
HG01975.hp2
HG01978.hp1
HG02027.hp2
HG02040.hp1
HG02056.hp2
HG02071.hp1
HG02074.hp2
HG02080.hp2
HG02083.hp2
HG02129.hp2
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02148.hp1
HG02257.hp2
HG02273.hp2
HG02300.hp2
HG02486.hp1
HG02523.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02622.hp1
HG02683.hp1
HG02735.hp1
HG02738.hp2
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03098.hp1
HG03098.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03492.hp2
HG03669.hp2
HG03688.hp2
HG03704.hp1
HG03831.hp1
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp2
HG04204.hp2
HG06807.hp2
NA18747.hp1
NA18906.hp1
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18947.hp1
NA18949.hp1
NA18950.hp1
NA18952.hp1
NA18953.hp2
NA18954.hp2
NA18959.hp1
NA18960.hp2
NA18963.hp1
NA18965.hp1
NA18965.hp2
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18975.hp2
NA18977.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18981.hp1
NA18982.hp2
NA18983.hp1
NA18984.hp2
NA18986.hp2
NA18991.hp1
NA18992.hp2
NA18993.hp1
NA18995.hp2
NA18998.hp1
NA19010.hp1
NA19011.hp1
NA19054.hp1
NA19056.hp1
NA19058.hp1
NA19060.hp1
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp2
NA19076.hp2
NA19077.hp1
NA19081.hp2
NA19083.hp2
NA19086.hp2
NA19087.hp1
NA20129.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp2
NA21309.hp1
 intron_variant MODIFIER c.79-2571G>A
c.79-2571G>A
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 1/13 chr8 18078158
chr8:18078159 G
G
 T
T
 6 a0003c0003t0005g0276
a0003c0003t0010g0052
a0003c0003t0010g0164
others(3): Show 
a0003c0003t0005g0276
a0003c0003t0010g0052
a0003c0003t0010g0164
a0003c0003t0010g0283
a0003c0003t0024g0282
a0003c0003t0026g0268
 7 HG01891.hp1
HG02109.hp1
HG02622.hp2
others(4): Show 
HG01891.hp1
HG02109.hp1
HG02622.hp2
HG02717.hp1
HG03139.hp1
HG03195.hp2
NA19240.hp2
 intron_variant MODIFIER c.79-2572C>A
c.79-2572C>A
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 1/13 chr8 18078159
chr8:18078168 C
C
 G
G
 107 a0001c0001t0001g0153
a0001c0001t0001g0226
a0001c0001t0001g0257
others(104): Show 
a0001c0001t0001g0153
a0001c0001t0001g0226
a0001c0001t0001g0257
a0001c0001t0001g0284
a0001c0001t0002g0216
a0001c0001t0002g0220
a0001c0001t0002g0235
a0001c0001t0002g0251
a0001c0001t0006g0047
a0001c0001t0006g0154
a0001c0001t0006g0215
a0001c0001t0006g0217
a0001c0001t0006g0221
a0001c0001t0006g0222
a0001c0001t0006g0224
a0001c0001t0006g0225
a0001c0001t0006g0227
a0001c0001t0014g0027
a0001c0007t0023g0279
a0001c0008t0006g0218
a0002c0002t0001g0013
a0002c0002t0001g0032
a0002c0002t0001g0136
a0002c0002t0001g0150
a0002c0002t0002g0001
a0002c0002t0002g0008
a0002c0002t0002g0017
a0002c0002t0002g0018
a0002c0002t0002g0021
a0002c0002t0002g0028
a0002c0002t0002g0034
a0002c0002t0002g0035
a0002c0002t0002g0036
a0002c0002t0002g0037
a0002c0002t0002g0038
a0002c0002t0002g0039
a0002c0002t0002g0055
a0002c0002t0002g0092
a0002c0002t0002g0093
a0002c0002t0002g0099
a0002c0002t0002g0100
a0002c0002t0002g0120
a0002c0002t0002g0131
a0002c0002t0002g0132
a0002c0002t0002g0133
a0002c0002t0002g0135
a0002c0002t0002g0137
a0002c0002t0002g0138
a0002c0002t0002g0139
a0002c0002t0002g0140
a0002c0002t0002g0141
a0002c0002t0002g0142
a0002c0002t0002g0143
a0002c0002t0002g0144
a0002c0002t0002g0145
a0002c0002t0002g0146
a0002c0002t0002g0148
a0002c0002t0002g0149
a0002c0002t0002g0151
a0002c0002t0002g0152
a0002c0002t0002g0155
a0002c0002t0002g0209
a0002c0002t0002g0240
a0002c0002t0002g0258
a0002c0002t0002g0285
a0002c0002t0003g0004
a0002c0002t0003g0031
a0002c0002t0003g0048
a0002c0002t0003g0049
a0002c0002t0003g0059
a0002c0002t0003g0060
a0002c0002t0003g0061
a0002c0002t0003g0091
a0002c0002t0003g0095
a0002c0002t0003g0096
a0002c0002t0003g0097
a0002c0002t0003g0098
a0002c0002t0003g0118
a0002c0002t0003g0134
a0002c0002t0003g0210
a0002c0002t0003g0232
a0002c0002t0003g0233
a0002c0002t0003g0236
a0002c0002t0003g0237
a0002c0002t0003g0238
a0002c0002t0003g0239
a0002c0002t0003g0244
a0002c0002t0003g0245
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0248
a0002c0002t0003g0250
a0002c0002t0003g0253
a0002c0002t0003g0255
a0002c0002t0005g0241
a0002c0002t0006g0147
a0002c0002t0019g0243
a0002c0002t0027g0242
a0002c0002t0028g0249
a0002c0002t0030g0254
a0002c0002t0033g0053
a0002c0002t0035g0286
a0003c0003t0002g0223
a0003c0003t0005g0056
a0003c0003t0008g0022
a0006c0006t0003g0023
a0006c0006t0003g0234
 160 HG00140.hp2
HG00280.hp1
HG00323.hp1
others(157): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp1
HG00423.hp2
HG00558.hp1
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00642.hp1
HG00738.hp1
HG00741.hp2
HG01070.hp2
HG01099.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01243.hp2
HG01255.hp2
HG01257.hp1
HG01258.hp1
HG01358.hp1
HG01361.hp2
HG01516.hp2
HG01517.hp1
HG01943.hp2
HG01975.hp2
HG01978.hp1
HG02027.hp2
HG02040.hp1
HG02056.hp2
HG02071.hp1
HG02074.hp2
HG02080.hp2
HG02083.hp2
HG02129.hp2
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02148.hp1
HG02257.hp2
HG02273.hp2
HG02300.hp2
HG02486.hp1
HG02523.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02622.hp1
HG02683.hp1
HG02735.hp1
HG02738.hp2
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03098.hp1
HG03098.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03492.hp2
HG03669.hp2
HG03688.hp2
HG03704.hp1
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp2
HG04204.hp2
HG06807.hp2
NA18747.hp1
NA18906.hp1
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18947.hp1
NA18949.hp1
NA18950.hp1
NA18952.hp1
NA18953.hp2
NA18954.hp2
NA18959.hp1
NA18960.hp2
NA18963.hp1
NA18965.hp1
NA18965.hp2
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18975.hp2
NA18977.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18981.hp1
NA18982.hp2
NA18983.hp1
NA18984.hp2
NA18986.hp2
NA18991.hp1
NA18992.hp2
NA18993.hp1
NA18995.hp2
NA18998.hp1
NA19010.hp1
NA19011.hp1
NA19054.hp1
NA19056.hp1
NA19058.hp1
NA19060.hp1
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp2
NA19076.hp2
NA19077.hp1
NA19081.hp2
NA19083.hp2
NA19086.hp2
NA19087.hp1
NA20129.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp2
NA21309.hp1
 intron_variant MODIFIER c.79-2581G>C
c.79-2581G>C
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 1/13 chr8 18078168
chr8:18078194 G
G
 A
A
 1 a0001c0007t0023g0279
a0001c0007t0023g0279
 1 HG02257.hp2
HG02257.hp2
 intron_variant MODIFIER c.79-2607C>T
c.79-2607C>T
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 1/13 chr8 18078194
chr8:18078199 C
C
 G
G
 1 a0001c0001t0007g0064
a0001c0001t0007g0064
 1 HG02083.hp1
HG02083.hp1
 intron_variant MODIFIER c.79-2612G>C
c.79-2612G>C
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 1/13 chr8 18078199
chr8:18078373 T
T
 C
C
 5 a0002c0002t0001g0013
a0002c0002t0001g0032
a0002c0002t0001g0136
others(2): Show 
a0002c0002t0001g0013
a0002c0002t0001g0032
a0002c0002t0001g0136
a0002c0002t0001g0150
a0002c0002t0035g0286
 9 HG02080.hp2
NA18941.hp1
NA18965.hp1
others(6): Show 
HG02080.hp2
NA18941.hp1
NA18965.hp1
NA18970.hp1
NA18981.hp1
NA18982.hp2
NA18983.hp1
NA19068.hp2
NA19076.hp2
 intron_variant MODIFIER c.79-2786A>G
c.79-2786A>G
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 1/13 chr8 18078373
chr8:18078442 G
G
 A
A
 140 a0001c0001t0001g0072
a0001c0001t0001g0153
a0001c0001t0001g0226
others(137): Show 
a0001c0001t0001g0072
a0001c0001t0001g0153
a0001c0001t0001g0226
a0001c0001t0001g0257
a0001c0001t0001g0284
a0001c0001t0002g0216
a0001c0001t0002g0220
a0001c0001t0002g0235
a0001c0001t0002g0251
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0029
a0001c0001t0004g0065
a0001c0001t0004g0066
a0001c0001t0004g0067
a0001c0001t0004g0068
a0001c0001t0004g0069
a0001c0001t0004g0070
a0001c0001t0004g0071
a0001c0001t0004g0079
a0001c0001t0004g0080
a0001c0001t0004g0081
a0001c0001t0004g0083
a0001c0001t0004g0084
a0001c0001t0004g0089
a0001c0001t0004g0090
a0001c0001t0006g0047
a0001c0001t0006g0154
a0001c0001t0006g0215
a0001c0001t0006g0217
a0001c0001t0006g0221
a0001c0001t0006g0222
a0001c0001t0006g0224
a0001c0001t0006g0225
a0001c0001t0006g0227
a0001c0001t0007g0058
a0001c0001t0007g0064
a0001c0001t0007g0073
a0001c0001t0007g0074
a0001c0001t0007g0075
a0001c0001t0007g0077
a0001c0001t0007g0078
a0001c0001t0014g0027
a0001c0001t0020g0076
a0001c0001t0021g0057
a0001c0001t0022g0082
a0001c0007t0023g0279
a0001c0008t0006g0218
a0002c0002t0001g0013
a0002c0002t0001g0032
a0002c0002t0001g0136
a0002c0002t0001g0150
a0002c0002t0002g0001
a0002c0002t0002g0008
a0002c0002t0002g0017
a0002c0002t0002g0018
a0002c0002t0002g0021
a0002c0002t0002g0028
a0002c0002t0002g0034
a0002c0002t0002g0035
a0002c0002t0002g0036
a0002c0002t0002g0037
a0002c0002t0002g0038
a0002c0002t0002g0039
a0002c0002t0002g0055
a0002c0002t0002g0092
a0002c0002t0002g0093
a0002c0002t0002g0099
a0002c0002t0002g0100
a0002c0002t0002g0120
a0002c0002t0002g0131
a0002c0002t0002g0132
a0002c0002t0002g0133
a0002c0002t0002g0135
a0002c0002t0002g0137
a0002c0002t0002g0138
a0002c0002t0002g0139
a0002c0002t0002g0140
a0002c0002t0002g0141
a0002c0002t0002g0142
a0002c0002t0002g0143
a0002c0002t0002g0144
a0002c0002t0002g0145
a0002c0002t0002g0146
a0002c0002t0002g0148
a0002c0002t0002g0149
a0002c0002t0002g0151
a0002c0002t0002g0152
a0002c0002t0002g0155
a0002c0002t0002g0209
a0002c0002t0002g0240
a0002c0002t0002g0258
a0002c0002t0002g0285
a0002c0002t0003g0004
a0002c0002t0003g0031
a0002c0002t0003g0048
a0002c0002t0003g0049
a0002c0002t0003g0059
a0002c0002t0003g0060
a0002c0002t0003g0061
a0002c0002t0003g0091
a0002c0002t0003g0095
a0002c0002t0003g0096
a0002c0002t0003g0097
a0002c0002t0003g0098
a0002c0002t0003g0118
a0002c0002t0003g0134
a0002c0002t0003g0160
a0002c0002t0003g0210
a0002c0002t0003g0232
a0002c0002t0003g0233
a0002c0002t0003g0236
a0002c0002t0003g0237
a0002c0002t0003g0238
a0002c0002t0003g0239
a0002c0002t0003g0244
a0002c0002t0003g0245
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0248
a0002c0002t0003g0250
a0002c0002t0003g0253
a0002c0002t0003g0255
a0002c0002t0005g0241
a0002c0002t0006g0147
a0002c0002t0019g0243
a0002c0002t0027g0242
a0002c0002t0028g0249
a0002c0002t0030g0254
a0002c0002t0033g0053
a0002c0002t0035g0286
a0003c0003t0002g0223
a0003c0003t0005g0056
a0003c0003t0008g0022
a0005c0005t0001g0213
a0005c0005t0011g0046
a0005c0005t0011g0211
a0005c0005t0011g0212
a0006c0006t0003g0023
a0006c0006t0003g0234
 201 HG00140.hp2
HG00280.hp1
HG00323.hp1
others(198): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp1
HG00323.hp2
HG00423.hp2
HG00438.hp2
HG00558.hp1
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00642.hp1
HG00738.hp1
HG00741.hp2
HG01070.hp2
HG01099.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01169.hp1
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01243.hp2
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01261.hp1
HG01358.hp1
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01496.hp1
HG01516.hp2
HG01517.hp1
HG01884.hp2
HG01943.hp2
HG01952.hp1
HG01975.hp2
HG01978.hp1
HG02027.hp2
HG02040.hp1
HG02056.hp2
HG02071.hp1
HG02074.hp2
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp2
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02148.hp1
HG02257.hp1
HG02257.hp2
HG02273.hp1
HG02273.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02523.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02622.hp1
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02735.hp1
HG02738.hp2
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03017.hp1
HG03098.hp1
HG03098.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03492.hp2
HG03540.hp1
HG03669.hp2
HG03688.hp2
HG03704.hp1
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp1
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18612.hp1
NA18747.hp1
NA18906.hp1
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18945.hp2
NA18947.hp1
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18952.hp1
NA18953.hp2
NA18954.hp2
NA18959.hp1
NA18960.hp2
NA18963.hp1
NA18965.hp1
NA18965.hp2
NA18966.hp2
NA18967.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18972.hp1
NA18975.hp2
NA18977.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18981.hp1
NA18982.hp2
NA18983.hp1
NA18984.hp2
NA18986.hp2
NA18991.hp1
NA18992.hp2
NA18993.hp1
NA18995.hp1
NA18995.hp2
NA18998.hp1
NA18999.hp1
NA19004.hp2
NA19010.hp1
NA19011.hp1
NA19043.hp1
NA19054.hp1
NA19054.hp2
NA19056.hp1
NA19058.hp1
NA19060.hp1
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp2
NA19076.hp2
NA19077.hp1
NA19081.hp2
NA19083.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19090.hp2
NA20129.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp2
NA21309.hp1
 intron_variant MODIFIER c.79-2855C>T
c.79-2855C>T
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 1/13 chr8 18078442
chr8:18078455 T
T
 C
C
 2 a0004c0004t0003g0007
a0004c0004t0003g0114
a0004c0004t0003g0007
a0004c0004t0003g0114
 7 NA18944.hp1
NA18948.hp2
NA18955.hp1
others(4): Show 
NA18944.hp1
NA18948.hp2
NA18955.hp1
NA18984.hp1
NA18986.hp1
NA19068.hp1
NA19082.hp1
 intron_variant MODIFIER c.79-2868A>G
c.79-2868A>G
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 1/13 chr8 18078455
chr8:18078520 G
G
 A
A
 107 a0001c0001t0001g0153
a0001c0001t0001g0226
a0001c0001t0001g0257
others(104): Show 
a0001c0001t0001g0153
a0001c0001t0001g0226
a0001c0001t0001g0257
a0001c0001t0001g0284
a0001c0001t0002g0216
a0001c0001t0002g0235
a0001c0001t0002g0251
a0001c0001t0006g0047
a0001c0001t0006g0154
a0001c0001t0006g0215
a0001c0001t0006g0217
a0001c0001t0006g0221
a0001c0001t0006g0222
a0001c0001t0006g0224
a0001c0001t0006g0225
a0001c0001t0006g0227
a0001c0001t0014g0027
a0001c0008t0006g0218
a0002c0002t0001g0013
a0002c0002t0001g0032
a0002c0002t0001g0136
a0002c0002t0001g0150
a0002c0002t0002g0001
a0002c0002t0002g0008
a0002c0002t0002g0017
a0002c0002t0002g0018
a0002c0002t0002g0021
a0002c0002t0002g0028
a0002c0002t0002g0034
a0002c0002t0002g0035
a0002c0002t0002g0036
a0002c0002t0002g0037
a0002c0002t0002g0038
a0002c0002t0002g0039
a0002c0002t0002g0055
a0002c0002t0002g0092
a0002c0002t0002g0093
a0002c0002t0002g0099
a0002c0002t0002g0100
a0002c0002t0002g0120
a0002c0002t0002g0131
a0002c0002t0002g0132
a0002c0002t0002g0133
a0002c0002t0002g0135
a0002c0002t0002g0137
a0002c0002t0002g0138
a0002c0002t0002g0139
a0002c0002t0002g0140
a0002c0002t0002g0141
a0002c0002t0002g0142
a0002c0002t0002g0143
a0002c0002t0002g0144
a0002c0002t0002g0145
a0002c0002t0002g0146
a0002c0002t0002g0148
a0002c0002t0002g0149
a0002c0002t0002g0151
a0002c0002t0002g0152
a0002c0002t0002g0155
a0002c0002t0002g0209
a0002c0002t0002g0240
a0002c0002t0002g0258
a0002c0002t0002g0285
a0002c0002t0003g0004
a0002c0002t0003g0031
a0002c0002t0003g0048
a0002c0002t0003g0049
a0002c0002t0003g0059
a0002c0002t0003g0060
a0002c0002t0003g0061
a0002c0002t0003g0091
a0002c0002t0003g0095
a0002c0002t0003g0096
a0002c0002t0003g0097
a0002c0002t0003g0098
a0002c0002t0003g0118
a0002c0002t0003g0134
a0002c0002t0003g0160
a0002c0002t0003g0232
a0002c0002t0003g0233
a0002c0002t0003g0236
a0002c0002t0003g0237
a0002c0002t0003g0238
a0002c0002t0003g0239
a0002c0002t0003g0244
a0002c0002t0003g0245
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0248
a0002c0002t0003g0250
a0002c0002t0003g0253
a0002c0002t0003g0255
a0002c0002t0003g0273
a0002c0002t0003g0274
a0002c0002t0003g0275
a0002c0002t0005g0241
a0002c0002t0006g0147
a0002c0002t0019g0243
a0002c0002t0027g0242
a0002c0002t0028g0249
a0002c0002t0030g0254
a0002c0002t0033g0053
a0002c0002t0035g0286
a0003c0003t0002g0223
a0003c0003t0008g0022
a0006c0006t0003g0023
a0006c0006t0003g0234
 160 HG00140.hp2
HG00280.hp1
HG00323.hp1
others(157): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp1
HG00423.hp2
HG00558.hp1
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00642.hp1
HG00738.hp1
HG00741.hp2
HG01070.hp2
HG01099.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01243.hp2
HG01255.hp2
HG01257.hp1
HG01258.hp1
HG01358.hp1
HG01361.hp2
HG01516.hp2
HG01517.hp1
HG01943.hp2
HG01975.hp2
HG01978.hp1
HG02027.hp2
HG02040.hp1
HG02056.hp2
HG02071.hp1
HG02074.hp2
HG02080.hp2
HG02083.hp2
HG02129.hp2
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02273.hp2
HG02300.hp2
HG02486.hp1
HG02523.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02622.hp1
HG02683.hp1
HG02735.hp1
HG02738.hp2
HG02809.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03098.hp1
HG03098.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03492.hp2
HG03579.hp1
HG03669.hp2
HG03688.hp2
HG03704.hp1
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp2
HG04204.hp2
HG06807.hp2
NA18747.hp1
NA18906.hp1
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18947.hp1
NA18949.hp1
NA18950.hp1
NA18952.hp1
NA18953.hp2
NA18954.hp2
NA18959.hp1
NA18960.hp2
NA18963.hp1
NA18965.hp1
NA18965.hp2
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18975.hp2
NA18977.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18981.hp1
NA18982.hp2
NA18983.hp1
NA18984.hp2
NA18986.hp2
NA18991.hp1
NA18992.hp2
NA18993.hp1
NA18995.hp2
NA18998.hp1
NA19010.hp1
NA19011.hp1
NA19054.hp1
NA19056.hp1
NA19058.hp1
NA19060.hp1
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp2
NA19076.hp2
NA19077.hp1
NA19081.hp2
NA19083.hp2
NA19086.hp2
NA19087.hp1
NA20129.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp2
NA21309.hp1
 intron_variant MODIFIER c.79-2933C>T
c.79-2933C>T
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 1/13 chr8 18078520
chr8:18078576 C
C
 G
G
 5 a0002c0002t0001g0013
a0002c0002t0001g0032
a0002c0002t0001g0136
others(2): Show 
a0002c0002t0001g0013
a0002c0002t0001g0032
a0002c0002t0001g0136
a0002c0002t0001g0150
a0002c0002t0035g0286
 9 HG02080.hp2
NA18941.hp1
NA18965.hp1
others(6): Show 
HG02080.hp2
NA18941.hp1
NA18965.hp1
NA18970.hp1
NA18981.hp1
NA18982.hp2
NA18983.hp1
NA19068.hp2
NA19076.hp2
 intron_variant MODIFIER c.79-2989G>C
c.79-2989G>C
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 1/13 chr8 18078576
chr8:18078682 C
C
 A
A
 1 a0002c0002t0002g0133
a0002c0002t0002g0133
 1 HG02129.hp2
HG02129.hp2
 intron_variant MODIFIER c.79-3095G>T
c.79-3095G>T
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 1/13 chr8 18078682
chr8:18078711 A
A
 C
C
 42 a0001c0001t0001g0102
a0001c0001t0001g0257
a0001c0001t0002g0235
others(39): Show 
a0001c0001t0001g0102
a0001c0001t0001g0257
a0001c0001t0002g0235
a0001c0001t0002g0251
a0001c0009t0001g0094
a0002c0002t0002g0240
a0002c0002t0003g0004
a0002c0002t0003g0031
a0002c0002t0003g0048
a0002c0002t0003g0049
a0002c0002t0003g0059
a0002c0002t0003g0060
a0002c0002t0003g0061
a0002c0002t0003g0091
a0002c0002t0003g0095
a0002c0002t0003g0096
a0002c0002t0003g0097
a0002c0002t0003g0098
a0002c0002t0003g0118
a0002c0002t0003g0134
a0002c0002t0003g0160
a0002c0002t0003g0232
a0002c0002t0003g0233
a0002c0002t0003g0236
a0002c0002t0003g0237
a0002c0002t0003g0238
a0002c0002t0003g0239
a0002c0002t0003g0244
a0002c0002t0003g0245
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0248
a0002c0002t0003g0250
a0002c0002t0003g0253
a0002c0002t0003g0255
a0002c0002t0005g0241
a0002c0002t0019g0243
a0002c0002t0027g0242
a0002c0002t0028g0249
a0002c0002t0030g0254
a0006c0006t0003g0023
a0006c0006t0003g0234
 54 HG00423.hp2
HG00558.hp1
HG00621.hp1
others(51): Show 
HG00423.hp2
HG00558.hp1
HG00621.hp1
HG00621.hp2
HG01106.hp2
HG01358.hp1
HG01943.hp2
HG01975.hp2
HG01981.hp2
HG02027.hp2
HG02040.hp1
HG02083.hp2
HG02148.hp1
HG02572.hp2
HG02602.hp1
HG02738.hp2
HG03098.hp1
HG03209.hp1
HG03225.hp2
HG03239.hp2
HG03471.hp1
HG03491.hp1
HG03669.hp2
HG03704.hp1
HG03834.hp2
HG03927.hp2
HG04115.hp2
HG04204.hp2
NA18939.hp1
NA18941.hp2
NA18943.hp1
NA18947.hp1
NA18949.hp1
NA18950.hp1
NA18952.hp1
NA18953.hp2
NA18954.hp2
NA18960.hp2
NA18965.hp2
NA18978.hp2
NA18979.hp1
NA18991.hp1
NA18992.hp2
NA18998.hp1
NA19010.hp1
NA19011.hp1
NA19055.hp2
NA19063.hp2
NA19064.hp1
NA19067.hp1
NA19081.hp2
NA19087.hp1
NA20129.hp2
NA20905.hp2
 intron_variant MODIFIER c.79-3124T>G
c.79-3124T>G
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 1/13 chr8 18078711
chr8:18078892 CTCTCCCT
others(15): Show 
CTCTCCCTGCCCTTCCCTACCTT
 C
C
 7 a0002c0002t0003g0025
a0002c0002t0003g0266
a0002c0002t0003g0267
others(4): Show 
a0002c0002t0003g0025
a0002c0002t0003g0266
a0002c0002t0003g0267
a0003c0003t0005g0024
a0003c0003t0005g0263
a0003c0003t0005g0264
a0003c0003t0005g0265
 11 HG02258.hp1
HG02559.hp1
HG02647.hp1
others(8): Show 
HG02258.hp1
HG02559.hp1
HG02647.hp1
HG02717.hp2
HG02886.hp1
HG03041.hp1
HG03130.hp2
HG03139.hp2
HG03471.hp2
NA18522.hp2
NA18906.hp2
 intron_variant MODIFIER c.79-3327_79-3306del
others(22): Show 
c.79-3327_79-3306delAAGGTAGGGAAGGGCAGGGAGA
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 1/13 chr8 18078892
chr8:18078956 G
G
 A
A
 1 a0001c0001t0002g0201
a0001c0001t0002g0201
 1 HG00639.hp1
HG00639.hp1
 intron_variant MODIFIER c.79-3369C>T
c.79-3369C>T
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 1/13 chr8 18078956
chr8:18078978 G
G
 T
T
 3 a0003c0003t0001g0033
a0003c0003t0001g0121
a0003c0003t0001g0122
a0003c0003t0001g0033
a0003c0003t0001g0121
a0003c0003t0001g0122
 4 HG01099.hp2
HG01192.hp1
NA18963.hp2
others(1): Show 
HG01099.hp2
HG01192.hp1
NA18963.hp2
NA18968.hp1
 intron_variant MODIFIER c.79-3391C>A
c.79-3391C>A
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 1/13 chr8 18078978
chr8:18079095 G
G
 T
T
 1 a0002c0002t0002g0285
a0002c0002t0002g0285
 1 NA18966.hp2
NA18966.hp2
 intron_variant MODIFIER c.79-3508C>A
c.79-3508C>A
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 1/13 chr8 18079095
chr8:18079134 TG
TG
 T
T
 109 a0001c0001t0001g0102
a0001c0001t0001g0153
a0001c0001t0001g0226
others(106): Show 
a0001c0001t0001g0102
a0001c0001t0001g0153
a0001c0001t0001g0226
a0001c0001t0001g0257
a0001c0001t0001g0284
a0001c0001t0002g0216
a0001c0001t0002g0220
a0001c0001t0002g0235
a0001c0001t0002g0251
a0001c0001t0006g0047
a0001c0001t0006g0154
a0001c0001t0006g0215
a0001c0001t0006g0217
a0001c0001t0006g0221
a0001c0001t0006g0222
a0001c0001t0006g0224
a0001c0001t0006g0225
a0001c0001t0006g0227
a0001c0001t0014g0027
a0001c0008t0006g0218
a0001c0009t0001g0094
a0002c0002t0001g0013
a0002c0002t0001g0032
a0002c0002t0001g0136
a0002c0002t0001g0150
a0002c0002t0002g0001
a0002c0002t0002g0008
a0002c0002t0002g0017
a0002c0002t0002g0018
a0002c0002t0002g0021
a0002c0002t0002g0028
a0002c0002t0002g0034
a0002c0002t0002g0035
a0002c0002t0002g0036
a0002c0002t0002g0037
a0002c0002t0002g0038
a0002c0002t0002g0039
a0002c0002t0002g0055
a0002c0002t0002g0092
a0002c0002t0002g0093
a0002c0002t0002g0099
a0002c0002t0002g0100
a0002c0002t0002g0120
a0002c0002t0002g0131
a0002c0002t0002g0132
a0002c0002t0002g0133
a0002c0002t0002g0135
a0002c0002t0002g0137
a0002c0002t0002g0138
a0002c0002t0002g0139
a0002c0002t0002g0140
a0002c0002t0002g0141
a0002c0002t0002g0142
a0002c0002t0002g0143
a0002c0002t0002g0144
a0002c0002t0002g0145
a0002c0002t0002g0146
a0002c0002t0002g0148
a0002c0002t0002g0149
a0002c0002t0002g0151
a0002c0002t0002g0152
a0002c0002t0002g0155
a0002c0002t0002g0209
a0002c0002t0002g0240
a0002c0002t0002g0258
a0002c0002t0002g0285
a0002c0002t0003g0004
a0002c0002t0003g0031
a0002c0002t0003g0048
a0002c0002t0003g0049
a0002c0002t0003g0059
a0002c0002t0003g0060
a0002c0002t0003g0061
a0002c0002t0003g0091
a0002c0002t0003g0095
a0002c0002t0003g0096
a0002c0002t0003g0097
a0002c0002t0003g0098
a0002c0002t0003g0118
a0002c0002t0003g0134
a0002c0002t0003g0160
a0002c0002t0003g0232
a0002c0002t0003g0233
a0002c0002t0003g0236
a0002c0002t0003g0237
a0002c0002t0003g0238
a0002c0002t0003g0239
a0002c0002t0003g0244
a0002c0002t0003g0245
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0248
a0002c0002t0003g0250
a0002c0002t0003g0252
a0002c0002t0003g0253
a0002c0002t0003g0255
a0002c0002t0005g0241
a0002c0002t0006g0147
a0002c0002t0019g0243
a0002c0002t0027g0242
a0002c0002t0028g0249
a0002c0002t0030g0254
a0002c0002t0033g0053
a0002c0002t0035g0286
a0003c0003t0002g0223
a0003c0003t0008g0022
a0003c0003t0009g0219
a0006c0006t0003g0023
a0006c0006t0003g0234
 162 HG00140.hp2
HG00280.hp1
HG00323.hp1
others(159): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp1
HG00423.hp2
HG00558.hp1
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00642.hp1
HG00738.hp1
HG00741.hp2
HG01070.hp2
HG01099.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01243.hp2
HG01255.hp2
HG01257.hp1
HG01258.hp1
HG01358.hp1
HG01361.hp2
HG01516.hp2
HG01517.hp1
HG01943.hp2
HG01975.hp2
HG01978.hp1
HG01981.hp2
HG02027.hp2
HG02040.hp1
HG02056.hp2
HG02071.hp1
HG02074.hp2
HG02080.hp2
HG02083.hp2
HG02129.hp2
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02148.hp1
HG02273.hp2
HG02300.hp2
HG02486.hp1
HG02523.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02622.hp1
HG02647.hp2
HG02683.hp1
HG02735.hp1
HG02738.hp2
HG02809.hp2
HG02886.hp2
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03098.hp1
HG03098.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03492.hp2
HG03669.hp2
HG03688.hp2
HG03704.hp1
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp2
HG04204.hp2
HG06807.hp2
NA18747.hp1
NA18906.hp1
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18947.hp1
NA18949.hp1
NA18950.hp1
NA18952.hp1
NA18953.hp2
NA18954.hp2
NA18959.hp1
NA18960.hp2
NA18963.hp1
NA18965.hp1
NA18965.hp2
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18975.hp2
NA18977.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18981.hp1
NA18982.hp2
NA18983.hp1
NA18984.hp2
NA18986.hp2
NA18988.hp1
NA18991.hp1
NA18992.hp2
NA18993.hp1
NA18995.hp2
NA18998.hp1
NA19010.hp1
NA19011.hp1
NA19054.hp1
NA19055.hp2
NA19056.hp1
NA19058.hp1
NA19060.hp1
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp2
NA19076.hp2
NA19077.hp1
NA19081.hp2
NA19083.hp2
NA19086.hp2
NA19087.hp1
NA20129.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp2
NA21309.hp1
 intron_variant MODIFIER c.79-3548delC
c.79-3548delC
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 1/13 chr8 18079134
chr8:18079165 C
C
 T
T
 3 a0001c0001t0001g0284
a0001c0001t0006g0217
a0001c0008t0006g0218
a0001c0001t0001g0284
a0001c0001t0006g0217
a0001c0008t0006g0218
 3 HG02683.hp1
HG02735.hp1
NA19083.hp2
HG02683.hp1
HG02735.hp1
NA19083.hp2
 intron_variant MODIFIER c.79-3578G>A
c.79-3578G>A
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 1/13 chr8 18079165
chr8:18079198 G
G
 A
A
 109 a0001c0001t0001g0102
a0001c0001t0001g0153
a0001c0001t0001g0226
others(106): Show 
a0001c0001t0001g0102
a0001c0001t0001g0153
a0001c0001t0001g0226
a0001c0001t0001g0257
a0001c0001t0001g0284
a0001c0001t0002g0216
a0001c0001t0002g0220
a0001c0001t0002g0235
a0001c0001t0002g0251
a0001c0001t0006g0047
a0001c0001t0006g0154
a0001c0001t0006g0215
a0001c0001t0006g0217
a0001c0001t0006g0221
a0001c0001t0006g0222
a0001c0001t0006g0224
a0001c0001t0006g0225
a0001c0001t0006g0227
a0001c0001t0014g0027
a0001c0008t0006g0218
a0001c0009t0001g0094
a0002c0002t0001g0013
a0002c0002t0001g0032
a0002c0002t0001g0136
a0002c0002t0001g0150
a0002c0002t0002g0001
a0002c0002t0002g0008
a0002c0002t0002g0017
a0002c0002t0002g0018
a0002c0002t0002g0021
a0002c0002t0002g0028
a0002c0002t0002g0034
a0002c0002t0002g0035
a0002c0002t0002g0036
a0002c0002t0002g0037
a0002c0002t0002g0038
a0002c0002t0002g0039
a0002c0002t0002g0055
a0002c0002t0002g0092
a0002c0002t0002g0093
a0002c0002t0002g0099
a0002c0002t0002g0100
a0002c0002t0002g0120
a0002c0002t0002g0131
a0002c0002t0002g0132
a0002c0002t0002g0133
a0002c0002t0002g0135
a0002c0002t0002g0137
a0002c0002t0002g0138
a0002c0002t0002g0139
a0002c0002t0002g0140
a0002c0002t0002g0141
a0002c0002t0002g0142
a0002c0002t0002g0143
a0002c0002t0002g0144
a0002c0002t0002g0145
a0002c0002t0002g0146
a0002c0002t0002g0148
a0002c0002t0002g0149
a0002c0002t0002g0151
a0002c0002t0002g0152
a0002c0002t0002g0155
a0002c0002t0002g0209
a0002c0002t0002g0240
a0002c0002t0002g0258
a0002c0002t0002g0285
a0002c0002t0003g0004
a0002c0002t0003g0031
a0002c0002t0003g0048
a0002c0002t0003g0049
a0002c0002t0003g0059
a0002c0002t0003g0060
a0002c0002t0003g0061
a0002c0002t0003g0091
a0002c0002t0003g0095
a0002c0002t0003g0096
a0002c0002t0003g0097
a0002c0002t0003g0098
a0002c0002t0003g0118
a0002c0002t0003g0134
a0002c0002t0003g0160
a0002c0002t0003g0232
a0002c0002t0003g0233
a0002c0002t0003g0236
a0002c0002t0003g0237
a0002c0002t0003g0238
a0002c0002t0003g0239
a0002c0002t0003g0244
a0002c0002t0003g0245
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0248
a0002c0002t0003g0250
a0002c0002t0003g0252
a0002c0002t0003g0253
a0002c0002t0003g0255
a0002c0002t0005g0241
a0002c0002t0006g0147
a0002c0002t0019g0243
a0002c0002t0027g0242
a0002c0002t0028g0249
a0002c0002t0030g0254
a0002c0002t0033g0053
a0002c0002t0035g0286
a0003c0003t0002g0223
a0003c0003t0008g0022
a0003c0003t0009g0219
a0006c0006t0003g0023
a0006c0006t0003g0234
 162 HG00140.hp2
HG00280.hp1
HG00323.hp1
others(159): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp1
HG00423.hp2
HG00558.hp1
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00642.hp1
HG00738.hp1
HG00741.hp2
HG01070.hp2
HG01099.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01243.hp2
HG01255.hp2
HG01257.hp1
HG01258.hp1
HG01358.hp1
HG01361.hp2
HG01516.hp2
HG01517.hp1
HG01943.hp2
HG01975.hp2
HG01978.hp1
HG01981.hp2
HG02027.hp2
HG02040.hp1
HG02056.hp2
HG02071.hp1
HG02074.hp2
HG02080.hp2
HG02083.hp2
HG02129.hp2
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02148.hp1
HG02273.hp2
HG02300.hp2
HG02486.hp1
HG02523.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02622.hp1
HG02647.hp2
HG02683.hp1
HG02735.hp1
HG02738.hp2
HG02809.hp2
HG02886.hp2
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03098.hp1
HG03098.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03492.hp2
HG03669.hp2
HG03688.hp2
HG03704.hp1
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp2
HG04204.hp2
HG06807.hp2
NA18747.hp1
NA18906.hp1
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18947.hp1
NA18949.hp1
NA18950.hp1
NA18952.hp1
NA18953.hp2
NA18954.hp2
NA18959.hp1
NA18960.hp2
NA18963.hp1
NA18965.hp1
NA18965.hp2
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18975.hp2
NA18977.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18981.hp1
NA18982.hp2
NA18983.hp1
NA18984.hp2
NA18986.hp2
NA18988.hp1
NA18991.hp1
NA18992.hp2
NA18993.hp1
NA18995.hp2
NA18998.hp1
NA19010.hp1
NA19011.hp1
NA19054.hp1
NA19055.hp2
NA19056.hp1
NA19058.hp1
NA19060.hp1
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp2
NA19076.hp2
NA19077.hp1
NA19081.hp2
NA19083.hp2
NA19086.hp2
NA19087.hp1
NA20129.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp2
NA21309.hp1
 intron_variant MODIFIER c.79-3611C>T
c.79-3611C>T
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 1/13 chr8 18079198
chr8:18079221 C
C
 T
T
 1 a0001c0001t0002g0216
a0001c0001t0002g0216
 1 HG03209.hp2
HG03209.hp2
 intron_variant MODIFIER c.79-3634G>A
c.79-3634G>A
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 1/13 chr8 18079221
chr8:18079274 G
G
 GA
GA
 105 a0001c0001t0001g0102
a0001c0001t0001g0153
a0001c0001t0001g0202
others(102): Show 
a0001c0001t0001g0102
a0001c0001t0001g0153
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0208
a0001c0001t0001g0226
a0001c0001t0001g0257
a0001c0001t0001g0284
a0001c0001t0002g0216
a0001c0001t0002g0220
a0001c0001t0002g0235
a0001c0001t0002g0251
a0001c0001t0004g0083
a0001c0001t0004g0084
a0001c0001t0006g0047
a0001c0001t0006g0154
a0001c0001t0006g0217
a0001c0001t0006g0221
a0001c0001t0006g0222
a0001c0001t0006g0224
a0001c0001t0006g0227
a0001c0001t0014g0027
a0001c0008t0006g0218
a0001c0009t0001g0094
a0002c0002t0001g0013
a0002c0002t0001g0032
a0002c0002t0001g0136
a0002c0002t0002g0001
a0002c0002t0002g0008
a0002c0002t0002g0017
a0002c0002t0002g0018
a0002c0002t0002g0021
a0002c0002t0002g0034
a0002c0002t0002g0035
a0002c0002t0002g0036
a0002c0002t0002g0037
a0002c0002t0002g0038
a0002c0002t0002g0039
a0002c0002t0002g0092
a0002c0002t0002g0093
a0002c0002t0002g0099
a0002c0002t0002g0131
a0002c0002t0002g0132
a0002c0002t0002g0133
a0002c0002t0002g0137
a0002c0002t0002g0138
a0002c0002t0002g0139
a0002c0002t0002g0140
a0002c0002t0002g0141
a0002c0002t0002g0142
a0002c0002t0002g0143
a0002c0002t0002g0144
a0002c0002t0002g0145
a0002c0002t0002g0146
a0002c0002t0002g0148
a0002c0002t0002g0149
a0002c0002t0002g0155
a0002c0002t0002g0209
a0002c0002t0002g0240
a0002c0002t0002g0258
a0002c0002t0002g0285
a0002c0002t0003g0004
a0002c0002t0003g0031
a0002c0002t0003g0048
a0002c0002t0003g0049
a0002c0002t0003g0059
a0002c0002t0003g0060
a0002c0002t0003g0091
a0002c0002t0003g0095
a0002c0002t0003g0096
a0002c0002t0003g0097
a0002c0002t0003g0098
a0002c0002t0003g0115
a0002c0002t0003g0118
a0002c0002t0003g0134
a0002c0002t0003g0160
a0002c0002t0003g0232
a0002c0002t0003g0233
a0002c0002t0003g0236
a0002c0002t0003g0237
a0002c0002t0003g0238
a0002c0002t0003g0239
a0002c0002t0003g0244
a0002c0002t0003g0245
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0248
a0002c0002t0003g0250
a0002c0002t0003g0252
a0002c0002t0005g0241
a0002c0002t0006g0147
a0002c0002t0019g0243
a0002c0002t0027g0242
a0002c0002t0028g0249
a0002c0002t0033g0053
a0003c0003t0001g0119
a0003c0003t0001g0280
a0003c0003t0002g0223
a0003c0003t0008g0022
a0003c0003t0009g0219
a0003c0003t0017g0272
a0006c0006t0003g0023
a0006c0006t0003g0234
 157 HG00140.hp2
HG00280.hp1
HG00323.hp1
others(154): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp1
HG00558.hp1
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00642.hp1
HG00738.hp1
HG00741.hp2
HG01070.hp2
HG01099.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp2
HG01167.hp2
HG01169.hp2
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01257.hp1
HG01258.hp1
HG01358.hp1
HG01361.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01943.hp2
HG01975.hp2
HG01978.hp1
HG01981.hp2
HG02027.hp2
HG02040.hp1
HG02071.hp1
HG02074.hp2
HG02083.hp2
HG02129.hp2
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02148.hp1
HG02148.hp2
HG02273.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02523.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02622.hp1
HG02647.hp2
HG02683.hp1
HG02735.hp1
HG02738.hp2
HG02809.hp2
HG02886.hp2
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03098.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03491.hp1
HG03492.hp2
HG03669.hp2
HG03688.hp2
HG03704.hp1
HG03710.hp2
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp2
HG04204.hp2
HG06807.hp2
NA18747.hp1
NA18906.hp1
NA18939.hp1
NA18939.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18947.hp1
NA18949.hp1
NA18950.hp1
NA18952.hp1
NA18953.hp2
NA18954.hp2
NA18959.hp1
NA18960.hp2
NA18963.hp1
NA18965.hp1
NA18965.hp2
NA18966.hp2
NA18967.hp1
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18972.hp1
NA18975.hp2
NA18977.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18981.hp1
NA18982.hp2
NA18983.hp1
NA18984.hp2
NA18986.hp2
NA18988.hp1
NA18991.hp1
NA18992.hp2
NA18993.hp1
NA18995.hp2
NA18998.hp1
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19054.hp1
NA19055.hp2
NA19056.hp1
NA19058.hp1
NA19060.hp1
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19066.hp2
NA19067.hp2
NA19076.hp1
NA19076.hp2
NA19077.hp1
NA19081.hp2
NA19083.hp2
NA19084.hp1
NA19086.hp2
NA19087.hp1
NA20129.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp2
NA21309.hp1
 intron_variant MODIFIER c.79-3688dupT
c.79-3688dupT
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 1/13 chr8 18079274
chr8:18079274 G
G
 GAA
GAA
 11 a0001c0001t0006g0225
a0002c0002t0001g0150
a0002c0002t0002g0100
others(8): Show 
a0001c0001t0006g0225
a0002c0002t0001g0150
a0002c0002t0002g0100
a0002c0002t0002g0120
a0002c0002t0002g0151
a0002c0002t0002g0152
a0002c0002t0003g0061
a0002c0002t0003g0253
a0002c0002t0003g0255
a0002c0002t0030g0254
a0002c0002t0035g0286
 11 HG00423.hp2
HG01175.hp1
HG01175.hp2
others(8): Show 
HG00423.hp2
HG01175.hp1
HG01175.hp2
HG02056.hp2
HG02080.hp2
HG02572.hp2
HG03471.hp1
NA18940.hp1
NA18940.hp2
NA19067.hp1
NA19068.hp2
 intron_variant MODIFIER c.79-3689_79-3688dup
others(2): Show 
c.79-3689_79-3688dupTT
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 1/13 chr8 18079274
chr8:18079284 A
A
 C
C
 2 a0001c0001t0015g0162
a0003c0003t0001g0163
a0001c0001t0015g0162
a0003c0003t0001g0163
 2 HG00558.hp2
NA19090.hp1
HG00558.hp2
NA19090.hp1
 intron_variant MODIFIER c.79-3697T>G
c.79-3697T>G
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 1/13 chr8 18079284
chr8:18079289 C
C
 A
A
 109 a0001c0001t0001g0102
a0001c0001t0001g0153
a0001c0001t0001g0226
others(106): Show 
a0001c0001t0001g0102
a0001c0001t0001g0153
a0001c0001t0001g0226
a0001c0001t0001g0257
a0001c0001t0001g0284
a0001c0001t0002g0216
a0001c0001t0002g0220
a0001c0001t0002g0235
a0001c0001t0002g0251
a0001c0001t0006g0047
a0001c0001t0006g0154
a0001c0001t0006g0215
a0001c0001t0006g0217
a0001c0001t0006g0221
a0001c0001t0006g0222
a0001c0001t0006g0224
a0001c0001t0006g0225
a0001c0001t0006g0227
a0001c0001t0014g0027
a0001c0008t0006g0218
a0001c0009t0001g0094
a0002c0002t0001g0013
a0002c0002t0001g0032
a0002c0002t0001g0136
a0002c0002t0001g0150
a0002c0002t0002g0001
a0002c0002t0002g0008
a0002c0002t0002g0017
a0002c0002t0002g0018
a0002c0002t0002g0021
a0002c0002t0002g0028
a0002c0002t0002g0034
a0002c0002t0002g0035
a0002c0002t0002g0036
a0002c0002t0002g0037
a0002c0002t0002g0038
a0002c0002t0002g0039
a0002c0002t0002g0092
a0002c0002t0002g0093
a0002c0002t0002g0099
a0002c0002t0002g0100
a0002c0002t0002g0120
a0002c0002t0002g0131
a0002c0002t0002g0132
a0002c0002t0002g0133
a0002c0002t0002g0135
a0002c0002t0002g0137
a0002c0002t0002g0138
a0002c0002t0002g0139
a0002c0002t0002g0140
a0002c0002t0002g0141
a0002c0002t0002g0142
a0002c0002t0002g0143
a0002c0002t0002g0144
a0002c0002t0002g0145
a0002c0002t0002g0146
a0002c0002t0002g0148
a0002c0002t0002g0149
a0002c0002t0002g0151
a0002c0002t0002g0152
a0002c0002t0002g0155
a0002c0002t0002g0209
a0002c0002t0002g0240
a0002c0002t0002g0258
a0002c0002t0002g0285
a0002c0002t0003g0004
a0002c0002t0003g0031
a0002c0002t0003g0048
a0002c0002t0003g0049
a0002c0002t0003g0059
a0002c0002t0003g0060
a0002c0002t0003g0061
a0002c0002t0003g0091
a0002c0002t0003g0095
a0002c0002t0003g0096
a0002c0002t0003g0097
a0002c0002t0003g0098
a0002c0002t0003g0118
a0002c0002t0003g0134
a0002c0002t0003g0160
a0002c0002t0003g0232
a0002c0002t0003g0233
a0002c0002t0003g0236
a0002c0002t0003g0237
a0002c0002t0003g0238
a0002c0002t0003g0239
a0002c0002t0003g0244
a0002c0002t0003g0245
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0248
a0002c0002t0003g0250
a0002c0002t0003g0252
a0002c0002t0003g0253
a0002c0002t0003g0255
a0002c0002t0005g0241
a0002c0002t0006g0147
a0002c0002t0019g0243
a0002c0002t0027g0242
a0002c0002t0028g0249
a0002c0002t0030g0254
a0002c0002t0033g0053
a0002c0002t0035g0286
a0003c0003t0002g0223
a0003c0003t0005g0206
a0003c0003t0008g0022
a0003c0003t0009g0219
a0006c0006t0003g0023
a0006c0006t0003g0234
 162 HG00140.hp2
HG00280.hp1
HG00323.hp1
others(159): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp1
HG00423.hp2
HG00558.hp1
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00642.hp1
HG00738.hp1
HG00741.hp2
HG01070.hp2
HG01099.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01243.hp2
HG01255.hp2
HG01257.hp1
HG01258.hp1
HG01358.hp1
HG01361.hp2
HG01516.hp2
HG01517.hp1
HG01943.hp2
HG01975.hp2
HG01978.hp1
HG01981.hp2
HG02027.hp2
HG02040.hp1
HG02056.hp2
HG02071.hp1
HG02074.hp2
HG02080.hp2
HG02083.hp2
HG02129.hp2
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02148.hp1
HG02258.hp2
HG02273.hp2
HG02300.hp2
HG02486.hp1
HG02523.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02622.hp1
HG02647.hp2
HG02683.hp1
HG02735.hp1
HG02738.hp2
HG02809.hp2
HG02886.hp2
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03098.hp1
HG03098.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03486.hp1
HG03491.hp1
HG03492.hp2
HG03669.hp2
HG03688.hp2
HG03704.hp1
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp2
HG04204.hp2
HG06807.hp2
NA18747.hp1
NA18906.hp1
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18947.hp1
NA18949.hp1
NA18950.hp1
NA18952.hp1
NA18953.hp2
NA18954.hp2
NA18959.hp1
NA18960.hp2
NA18963.hp1
NA18965.hp1
NA18965.hp2
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18975.hp2
NA18977.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18981.hp1
NA18982.hp2
NA18983.hp1
NA18984.hp2
NA18986.hp2
NA18988.hp1
NA18991.hp1
NA18992.hp2
NA18993.hp1
NA18995.hp2
NA18998.hp1
NA19010.hp1
NA19011.hp1
NA19054.hp1
NA19055.hp2
NA19056.hp1
NA19058.hp1
NA19060.hp1
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp2
NA19076.hp2
NA19077.hp1
NA19081.hp2
NA19083.hp2
NA19086.hp2
NA19087.hp1
NA20129.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp2
NA21309.hp1
 intron_variant MODIFIER c.79-3702G>T
c.79-3702G>T
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 1/13 chr8 18079289
chr8:18079449 C
C
 A
A
 108 a0001c0001t0001g0102
a0001c0001t0001g0153
a0001c0001t0001g0226
others(105): Show 
a0001c0001t0001g0102
a0001c0001t0001g0153
a0001c0001t0001g0226
a0001c0001t0001g0257
a0001c0001t0001g0284
a0001c0001t0002g0216
a0001c0001t0002g0220
a0001c0001t0002g0235
a0001c0001t0002g0251
a0001c0001t0006g0047
a0001c0001t0006g0154
a0001c0001t0006g0215
a0001c0001t0006g0217
a0001c0001t0006g0221
a0001c0001t0006g0222
a0001c0001t0006g0224
a0001c0001t0006g0225
a0001c0001t0006g0227
a0001c0001t0014g0027
a0001c0008t0006g0218
a0001c0009t0001g0094
a0002c0002t0001g0013
a0002c0002t0001g0032
a0002c0002t0001g0136
a0002c0002t0001g0150
a0002c0002t0002g0001
a0002c0002t0002g0008
a0002c0002t0002g0017
a0002c0002t0002g0018
a0002c0002t0002g0021
a0002c0002t0002g0028
a0002c0002t0002g0034
a0002c0002t0002g0035
a0002c0002t0002g0036
a0002c0002t0002g0037
a0002c0002t0002g0038
a0002c0002t0002g0039
a0002c0002t0002g0092
a0002c0002t0002g0093
a0002c0002t0002g0099
a0002c0002t0002g0100
a0002c0002t0002g0120
a0002c0002t0002g0131
a0002c0002t0002g0132
a0002c0002t0002g0133
a0002c0002t0002g0135
a0002c0002t0002g0137
a0002c0002t0002g0138
a0002c0002t0002g0139
a0002c0002t0002g0140
a0002c0002t0002g0141
a0002c0002t0002g0142
a0002c0002t0002g0143
a0002c0002t0002g0144
a0002c0002t0002g0145
a0002c0002t0002g0146
a0002c0002t0002g0148
a0002c0002t0002g0149
a0002c0002t0002g0151
a0002c0002t0002g0152
a0002c0002t0002g0155
a0002c0002t0002g0209
a0002c0002t0002g0240
a0002c0002t0002g0258
a0002c0002t0002g0285
a0002c0002t0003g0004
a0002c0002t0003g0031
a0002c0002t0003g0048
a0002c0002t0003g0049
a0002c0002t0003g0059
a0002c0002t0003g0060
a0002c0002t0003g0061
a0002c0002t0003g0091
a0002c0002t0003g0095
a0002c0002t0003g0096
a0002c0002t0003g0097
a0002c0002t0003g0098
a0002c0002t0003g0118
a0002c0002t0003g0134
a0002c0002t0003g0160
a0002c0002t0003g0232
a0002c0002t0003g0233
a0002c0002t0003g0236
a0002c0002t0003g0237
a0002c0002t0003g0238
a0002c0002t0003g0239
a0002c0002t0003g0244
a0002c0002t0003g0245
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0248
a0002c0002t0003g0250
a0002c0002t0003g0252
a0002c0002t0003g0253
a0002c0002t0003g0255
a0002c0002t0005g0241
a0002c0002t0006g0147
a0002c0002t0019g0243
a0002c0002t0027g0242
a0002c0002t0028g0249
a0002c0002t0030g0254
a0002c0002t0033g0053
a0002c0002t0035g0286
a0003c0003t0002g0223
a0003c0003t0008g0022
a0003c0003t0009g0219
a0006c0006t0003g0023
a0006c0006t0003g0234
 161 HG00140.hp2
HG00280.hp1
HG00323.hp1
others(158): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp1
HG00423.hp2
HG00558.hp1
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00642.hp1
HG00738.hp1
HG00741.hp2
HG01070.hp2
HG01099.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01243.hp2
HG01255.hp2
HG01257.hp1
HG01258.hp1
HG01358.hp1
HG01361.hp2
HG01516.hp2
HG01517.hp1
HG01943.hp2
HG01975.hp2
HG01978.hp1
HG01981.hp2
HG02027.hp2
HG02040.hp1
HG02056.hp2
HG02071.hp1
HG02074.hp2
HG02080.hp2
HG02083.hp2
HG02129.hp2
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02148.hp1
HG02273.hp2
HG02300.hp2
HG02486.hp1
HG02523.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02622.hp1
HG02647.hp2
HG02683.hp1
HG02735.hp1
HG02738.hp2
HG02809.hp2
HG02886.hp2
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03098.hp1
HG03098.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03486.hp1
HG03491.hp1
HG03492.hp2
HG03669.hp2
HG03688.hp2
HG03704.hp1
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp2
HG04204.hp2
HG06807.hp2
NA18747.hp1
NA18906.hp1
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18947.hp1
NA18949.hp1
NA18950.hp1
NA18952.hp1
NA18953.hp2
NA18954.hp2
NA18959.hp1
NA18960.hp2
NA18963.hp1
NA18965.hp1
NA18965.hp2
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18975.hp2
NA18977.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18981.hp1
NA18982.hp2
NA18983.hp1
NA18984.hp2
NA18986.hp2
NA18988.hp1
NA18991.hp1
NA18992.hp2
NA18993.hp1
NA18995.hp2
NA18998.hp1
NA19010.hp1
NA19011.hp1
NA19054.hp1
NA19055.hp2
NA19056.hp1
NA19058.hp1
NA19060.hp1
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp2
NA19076.hp2
NA19077.hp1
NA19081.hp2
NA19083.hp2
NA19086.hp2
NA19087.hp1
NA20129.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp2
NA21309.hp1
 intron_variant MODIFIER c.79-3862G>T
c.79-3862G>T
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 1/13 chr8 18079449
chr8:18079468 C
C
 CATT
CATT
 109 a0001c0001t0001g0102
a0001c0001t0001g0153
a0001c0001t0001g0226
others(106): Show 
a0001c0001t0001g0102
a0001c0001t0001g0153
a0001c0001t0001g0226
a0001c0001t0001g0257
a0001c0001t0001g0284
a0001c0001t0002g0216
a0001c0001t0002g0220
a0001c0001t0002g0235
a0001c0001t0002g0251
a0001c0001t0006g0047
a0001c0001t0006g0154
a0001c0001t0006g0215
a0001c0001t0006g0217
a0001c0001t0006g0221
a0001c0001t0006g0222
a0001c0001t0006g0224
a0001c0001t0006g0225
a0001c0001t0006g0227
a0001c0001t0013g0281
a0001c0001t0014g0027
a0001c0008t0006g0218
a0001c0009t0001g0094
a0002c0002t0001g0013
a0002c0002t0001g0032
a0002c0002t0001g0136
a0002c0002t0001g0150
a0002c0002t0002g0001
a0002c0002t0002g0008
a0002c0002t0002g0017
a0002c0002t0002g0018
a0002c0002t0002g0021
a0002c0002t0002g0028
a0002c0002t0002g0034
a0002c0002t0002g0035
a0002c0002t0002g0036
a0002c0002t0002g0037
a0002c0002t0002g0038
a0002c0002t0002g0039
a0002c0002t0002g0092
a0002c0002t0002g0093
a0002c0002t0002g0099
a0002c0002t0002g0100
a0002c0002t0002g0120
a0002c0002t0002g0131
a0002c0002t0002g0132
a0002c0002t0002g0133
a0002c0002t0002g0135
a0002c0002t0002g0137
a0002c0002t0002g0138
a0002c0002t0002g0139
a0002c0002t0002g0140
a0002c0002t0002g0141
a0002c0002t0002g0142
a0002c0002t0002g0143
a0002c0002t0002g0144
a0002c0002t0002g0145
a0002c0002t0002g0146
a0002c0002t0002g0148
a0002c0002t0002g0149
a0002c0002t0002g0151
a0002c0002t0002g0152
a0002c0002t0002g0155
a0002c0002t0002g0209
a0002c0002t0002g0240
a0002c0002t0002g0258
a0002c0002t0002g0285
a0002c0002t0003g0004
a0002c0002t0003g0031
a0002c0002t0003g0048
a0002c0002t0003g0049
a0002c0002t0003g0059
a0002c0002t0003g0060
a0002c0002t0003g0061
a0002c0002t0003g0091
a0002c0002t0003g0095
a0002c0002t0003g0096
a0002c0002t0003g0097
a0002c0002t0003g0098
a0002c0002t0003g0118
a0002c0002t0003g0134
a0002c0002t0003g0160
a0002c0002t0003g0232
a0002c0002t0003g0233
a0002c0002t0003g0236
a0002c0002t0003g0237
a0002c0002t0003g0238
a0002c0002t0003g0239
a0002c0002t0003g0244
a0002c0002t0003g0245
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0248
a0002c0002t0003g0250
a0002c0002t0003g0252
a0002c0002t0003g0253
a0002c0002t0003g0255
a0002c0002t0005g0241
a0002c0002t0006g0147
a0002c0002t0019g0243
a0002c0002t0027g0242
a0002c0002t0028g0249
a0002c0002t0030g0254
a0002c0002t0033g0053
a0002c0002t0035g0286
a0003c0003t0002g0223
a0003c0003t0008g0022
a0003c0003t0009g0219
a0006c0006t0003g0023
a0006c0006t0003g0234
 162 HG00140.hp2
HG00280.hp1
HG00323.hp1
others(159): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp1
HG00423.hp2
HG00558.hp1
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00642.hp1
HG00738.hp1
HG00741.hp2
HG01070.hp2
HG01099.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01243.hp2
HG01255.hp2
HG01257.hp1
HG01258.hp1
HG01358.hp1
HG01361.hp2
HG01516.hp2
HG01517.hp1
HG01943.hp2
HG01975.hp2
HG01978.hp1
HG01981.hp2
HG02027.hp2
HG02040.hp1
HG02056.hp2
HG02071.hp1
HG02074.hp2
HG02080.hp2
HG02083.hp2
HG02129.hp2
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02148.hp1
HG02273.hp2
HG02300.hp2
HG02486.hp1
HG02523.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02622.hp1
HG02647.hp2
HG02683.hp1
HG02735.hp1
HG02738.hp2
HG02809.hp2
HG02886.hp2
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03098.hp1
HG03098.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03486.hp1
HG03491.hp1
HG03492.hp2
HG03669.hp2
HG03688.hp2
HG03704.hp1
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp2
HG04204.hp2
HG06807.hp2
NA18747.hp1
NA18906.hp1
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18947.hp1
NA18949.hp1
NA18950.hp1
NA18952.hp1
NA18953.hp2
NA18954.hp2
NA18959.hp1
NA18960.hp2
NA18963.hp1
NA18965.hp1
NA18965.hp2
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18975.hp2
NA18977.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18981.hp1
NA18982.hp2
NA18983.hp1
NA18984.hp2
NA18986.hp2
NA18988.hp1
NA18991.hp1
NA18992.hp2
NA18993.hp1
NA18995.hp2
NA18998.hp1
NA19010.hp1
NA19011.hp1
NA19054.hp1
NA19055.hp2
NA19056.hp1
NA19058.hp1
NA19060.hp1
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp2
NA19076.hp2
NA19077.hp1
NA19081.hp2
NA19083.hp2
NA19086.hp2
NA19087.hp1
NA20129.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp2
NA21309.hp1
 intron_variant MODIFIER c.79-3884_79-3882dup
others(3): Show 
c.79-3884_79-3882dupAAT
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 1/13 chr8 18079468
chr8:18079470 T
T
 A
A
 8 a0002c0002t0003g0025
a0002c0002t0003g0266
a0002c0002t0003g0267
others(5): Show 
a0002c0002t0003g0025
a0002c0002t0003g0266
a0002c0002t0003g0267
a0003c0003t0001g0280
a0003c0003t0005g0024
a0003c0003t0005g0263
a0003c0003t0005g0264
a0003c0003t0005g0265
 12 HG02258.hp1
HG02559.hp1
HG02647.hp1
others(9): Show 
HG02258.hp1
HG02559.hp1
HG02647.hp1
HG02717.hp2
HG02886.hp1
HG03041.hp1
HG03130.hp2
HG03139.hp2
HG03471.hp2
NA18522.hp2
NA18906.hp2
NA19010.hp2
 intron_variant MODIFIER c.79-3883A>T
c.79-3883A>T
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 1/13 chr8 18079470
chr8:18079488 C
C
 T
T
 1 a0001c0001t0001g0161
a0001c0001t0001g0161
 1 HG01993.hp2
HG01993.hp2
 intron_variant MODIFIER c.79-3901G>A
c.79-3901G>A
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 1/13 chr8 18079488
chr8:18079589 G
G
 A
A
 109 a0001c0001t0001g0102
a0001c0001t0001g0153
a0001c0001t0001g0226
others(106): Show 
a0001c0001t0001g0102
a0001c0001t0001g0153
a0001c0001t0001g0226
a0001c0001t0001g0257
a0001c0001t0001g0284
a0001c0001t0002g0216
a0001c0001t0002g0220
a0001c0001t0002g0235
a0001c0001t0002g0251
a0001c0001t0006g0047
a0001c0001t0006g0154
a0001c0001t0006g0215
a0001c0001t0006g0217
a0001c0001t0006g0221
a0001c0001t0006g0222
a0001c0001t0006g0224
a0001c0001t0006g0225
a0001c0001t0006g0227
a0001c0001t0013g0281
a0001c0001t0014g0027
a0001c0008t0006g0218
a0001c0009t0001g0094
a0002c0002t0001g0013
a0002c0002t0001g0032
a0002c0002t0001g0136
a0002c0002t0001g0150
a0002c0002t0002g0001
a0002c0002t0002g0008
a0002c0002t0002g0017
a0002c0002t0002g0018
a0002c0002t0002g0021
a0002c0002t0002g0028
a0002c0002t0002g0034
a0002c0002t0002g0035
a0002c0002t0002g0036
a0002c0002t0002g0037
a0002c0002t0002g0038
a0002c0002t0002g0039
a0002c0002t0002g0092
a0002c0002t0002g0093
a0002c0002t0002g0099
a0002c0002t0002g0100
a0002c0002t0002g0120
a0002c0002t0002g0131
a0002c0002t0002g0132
a0002c0002t0002g0133
a0002c0002t0002g0135
a0002c0002t0002g0137
a0002c0002t0002g0138
a0002c0002t0002g0139
a0002c0002t0002g0140
a0002c0002t0002g0141
a0002c0002t0002g0142
a0002c0002t0002g0143
a0002c0002t0002g0144
a0002c0002t0002g0145
a0002c0002t0002g0146
a0002c0002t0002g0148
a0002c0002t0002g0149
a0002c0002t0002g0151
a0002c0002t0002g0152
a0002c0002t0002g0155
a0002c0002t0002g0209
a0002c0002t0002g0240
a0002c0002t0002g0258
a0002c0002t0002g0285
a0002c0002t0003g0004
a0002c0002t0003g0031
a0002c0002t0003g0048
a0002c0002t0003g0049
a0002c0002t0003g0059
a0002c0002t0003g0060
a0002c0002t0003g0061
a0002c0002t0003g0091
a0002c0002t0003g0095
a0002c0002t0003g0096
a0002c0002t0003g0097
a0002c0002t0003g0098
a0002c0002t0003g0118
a0002c0002t0003g0134
a0002c0002t0003g0160
a0002c0002t0003g0232
a0002c0002t0003g0233
a0002c0002t0003g0236
a0002c0002t0003g0237
a0002c0002t0003g0238
a0002c0002t0003g0239
a0002c0002t0003g0244
a0002c0002t0003g0245
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0248
a0002c0002t0003g0250
a0002c0002t0003g0252
a0002c0002t0003g0253
a0002c0002t0003g0255
a0002c0002t0005g0241
a0002c0002t0006g0147
a0002c0002t0019g0243
a0002c0002t0027g0242
a0002c0002t0028g0249
a0002c0002t0030g0254
a0002c0002t0033g0053
a0002c0002t0035g0286
a0003c0003t0002g0223
a0003c0003t0008g0022
a0003c0003t0009g0219
a0006c0006t0003g0023
a0006c0006t0003g0234
 162 HG00140.hp2
HG00280.hp1
HG00323.hp1
others(159): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp1
HG00423.hp2
HG00558.hp1
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00642.hp1
HG00738.hp1
HG00741.hp2
HG01070.hp2
HG01099.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01243.hp2
HG01255.hp2
HG01257.hp1
HG01258.hp1
HG01358.hp1
HG01361.hp2
HG01516.hp2
HG01517.hp1
HG01943.hp2
HG01975.hp2
HG01978.hp1
HG01981.hp2
HG02027.hp2
HG02040.hp1
HG02056.hp2
HG02071.hp1
HG02074.hp2
HG02080.hp2
HG02083.hp2
HG02129.hp2
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02148.hp1
HG02273.hp2
HG02300.hp2
HG02486.hp1
HG02523.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02622.hp1
HG02647.hp2
HG02683.hp1
HG02735.hp1
HG02738.hp2
HG02809.hp2
HG02886.hp2
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03098.hp1
HG03098.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03486.hp1
HG03491.hp1
HG03492.hp2
HG03669.hp2
HG03688.hp2
HG03704.hp1
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp2
HG04204.hp2
HG06807.hp2
NA18747.hp1
NA18906.hp1
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18947.hp1
NA18949.hp1
NA18950.hp1
NA18952.hp1
NA18953.hp2
NA18954.hp2
NA18959.hp1
NA18960.hp2
NA18963.hp1
NA18965.hp1
NA18965.hp2
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18975.hp2
NA18977.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18981.hp1
NA18982.hp2
NA18983.hp1
NA18984.hp2
NA18986.hp2
NA18988.hp1
NA18991.hp1
NA18992.hp2
NA18993.hp1
NA18995.hp2
NA18998.hp1
NA19010.hp1
NA19011.hp1
NA19054.hp1
NA19055.hp2
NA19056.hp1
NA19058.hp1
NA19060.hp1
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp2
NA19076.hp2
NA19077.hp1
NA19081.hp2
NA19083.hp2
NA19086.hp2
NA19087.hp1
NA20129.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp2
NA21309.hp1
 intron_variant MODIFIER c.79-4002C>T
c.79-4002C>T
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 1/13 chr8 18079589
chr8:18079631 T
T
 C
C
 1 a0001c0007t0023g0279
a0001c0007t0023g0279
 1 HG02257.hp2
HG02257.hp2
 intron_variant MODIFIER c.79-4044A>G
c.79-4044A>G
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 1/13 chr8 18079631
chr8:18079658 G
G
 A
A
 109 a0001c0001t0001g0102
a0001c0001t0001g0153
a0001c0001t0001g0226
others(106): Show 
a0001c0001t0001g0102
a0001c0001t0001g0153
a0001c0001t0001g0226
a0001c0001t0001g0257
a0001c0001t0001g0284
a0001c0001t0002g0216
a0001c0001t0002g0220
a0001c0001t0002g0235
a0001c0001t0002g0251
a0001c0001t0006g0047
a0001c0001t0006g0154
a0001c0001t0006g0215
a0001c0001t0006g0217
a0001c0001t0006g0221
a0001c0001t0006g0222
a0001c0001t0006g0224
a0001c0001t0006g0225
a0001c0001t0006g0227
a0001c0001t0013g0281
a0001c0001t0014g0027
a0001c0008t0006g0218
a0001c0009t0001g0094
a0002c0002t0001g0013
a0002c0002t0001g0032
a0002c0002t0001g0136
a0002c0002t0001g0150
a0002c0002t0002g0001
a0002c0002t0002g0008
a0002c0002t0002g0017
a0002c0002t0002g0018
a0002c0002t0002g0021
a0002c0002t0002g0028
a0002c0002t0002g0034
a0002c0002t0002g0035
a0002c0002t0002g0036
a0002c0002t0002g0037
a0002c0002t0002g0038
a0002c0002t0002g0039
a0002c0002t0002g0092
a0002c0002t0002g0093
a0002c0002t0002g0099
a0002c0002t0002g0100
a0002c0002t0002g0120
a0002c0002t0002g0131
a0002c0002t0002g0132
a0002c0002t0002g0133
a0002c0002t0002g0135
a0002c0002t0002g0137
a0002c0002t0002g0138
a0002c0002t0002g0139
a0002c0002t0002g0140
a0002c0002t0002g0141
a0002c0002t0002g0142
a0002c0002t0002g0143
a0002c0002t0002g0144
a0002c0002t0002g0145
a0002c0002t0002g0146
a0002c0002t0002g0148
a0002c0002t0002g0149
a0002c0002t0002g0151
a0002c0002t0002g0152
a0002c0002t0002g0155
a0002c0002t0002g0209
a0002c0002t0002g0240
a0002c0002t0002g0258
a0002c0002t0002g0285
a0002c0002t0003g0004
a0002c0002t0003g0031
a0002c0002t0003g0048
a0002c0002t0003g0049
a0002c0002t0003g0059
a0002c0002t0003g0060
a0002c0002t0003g0061
a0002c0002t0003g0091
a0002c0002t0003g0095
a0002c0002t0003g0096
a0002c0002t0003g0097
a0002c0002t0003g0098
a0002c0002t0003g0118
a0002c0002t0003g0134
a0002c0002t0003g0160
a0002c0002t0003g0232
a0002c0002t0003g0233
a0002c0002t0003g0236
a0002c0002t0003g0237
a0002c0002t0003g0238
a0002c0002t0003g0239
a0002c0002t0003g0244
a0002c0002t0003g0245
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0248
a0002c0002t0003g0250
a0002c0002t0003g0252
a0002c0002t0003g0253
a0002c0002t0003g0255
a0002c0002t0005g0241
a0002c0002t0006g0147
a0002c0002t0019g0243
a0002c0002t0027g0242
a0002c0002t0028g0249
a0002c0002t0030g0254
a0002c0002t0033g0053
a0002c0002t0035g0286
a0003c0003t0002g0223
a0003c0003t0008g0022
a0003c0003t0009g0219
a0006c0006t0003g0023
a0006c0006t0003g0234
 162 HG00140.hp2
HG00280.hp1
HG00323.hp1
others(159): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp1
HG00423.hp2
HG00558.hp1
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00642.hp1
HG00738.hp1
HG00741.hp2
HG01070.hp2
HG01099.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01243.hp2
HG01255.hp2
HG01257.hp1
HG01258.hp1
HG01358.hp1
HG01361.hp2
HG01516.hp2
HG01517.hp1
HG01943.hp2
HG01975.hp2
HG01978.hp1
HG01981.hp2
HG02027.hp2
HG02040.hp1
HG02056.hp2
HG02071.hp1
HG02074.hp2
HG02080.hp2
HG02083.hp2
HG02129.hp2
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02148.hp1
HG02273.hp2
HG02300.hp2
HG02486.hp1
HG02523.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02622.hp1
HG02647.hp2
HG02683.hp1
HG02735.hp1
HG02738.hp2
HG02809.hp2
HG02886.hp2
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03098.hp1
HG03098.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03486.hp1
HG03491.hp1
HG03492.hp2
HG03669.hp2
HG03688.hp2
HG03704.hp1
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp2
HG04204.hp2
HG06807.hp2
NA18747.hp1
NA18906.hp1
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18947.hp1
NA18949.hp1
NA18950.hp1
NA18952.hp1
NA18953.hp2
NA18954.hp2
NA18959.hp1
NA18960.hp2
NA18963.hp1
NA18965.hp1
NA18965.hp2
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18975.hp2
NA18977.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18981.hp1
NA18982.hp2
NA18983.hp1
NA18984.hp2
NA18986.hp2
NA18988.hp1
NA18991.hp1
NA18992.hp2
NA18993.hp1
NA18995.hp2
NA18998.hp1
NA19010.hp1
NA19011.hp1
NA19054.hp1
NA19055.hp2
NA19056.hp1
NA19058.hp1
NA19060.hp1
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp2
NA19076.hp2
NA19077.hp1
NA19081.hp2
NA19083.hp2
NA19086.hp2
NA19087.hp1
NA20129.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp2
NA21309.hp1
 intron_variant MODIFIER c.79-4071C>T
c.79-4071C>T
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 1/13 chr8 18079658
chr8:18079660 A
A
 G
G
 1 a0002c0002t0003g0233
a0002c0002t0003g0233
 1 NA18979.hp1
NA18979.hp1
 intron_variant MODIFIER c.79-4073T>C
c.79-4073T>C
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 1/13 chr8 18079660
chr8:18079683 T
T
 C
C
 1 a0001c0001t0001g0278
a0001c0001t0001g0278
 1 HG03688.hp1
HG03688.hp1
 intron_variant MODIFIER c.79-4096A>G
c.79-4096A>G
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 1/13 chr8 18079683
chr8:18079723 C
C
 A
A
 107 a0001c0001t0001g0102
a0001c0001t0001g0153
a0001c0001t0001g0226
others(104): Show 
a0001c0001t0001g0102
a0001c0001t0001g0153
a0001c0001t0001g0226
a0001c0001t0001g0257
a0001c0001t0002g0216
a0001c0001t0002g0220
a0001c0001t0002g0235
a0001c0001t0002g0251
a0001c0001t0006g0047
a0001c0001t0006g0154
a0001c0001t0006g0215
a0001c0001t0006g0217
a0001c0001t0006g0221
a0001c0001t0006g0222
a0001c0001t0006g0224
a0001c0001t0006g0225
a0001c0001t0006g0227
a0001c0001t0014g0027
a0001c0008t0006g0218
a0001c0009t0001g0094
a0002c0002t0001g0013
a0002c0002t0001g0032
a0002c0002t0001g0136
a0002c0002t0001g0150
a0002c0002t0002g0001
a0002c0002t0002g0008
a0002c0002t0002g0017
a0002c0002t0002g0018
a0002c0002t0002g0021
a0002c0002t0002g0028
a0002c0002t0002g0034
a0002c0002t0002g0035
a0002c0002t0002g0036
a0002c0002t0002g0037
a0002c0002t0002g0038
a0002c0002t0002g0039
a0002c0002t0002g0092
a0002c0002t0002g0093
a0002c0002t0002g0099
a0002c0002t0002g0100
a0002c0002t0002g0120
a0002c0002t0002g0131
a0002c0002t0002g0132
a0002c0002t0002g0133
a0002c0002t0002g0135
a0002c0002t0002g0137
a0002c0002t0002g0138
a0002c0002t0002g0139
a0002c0002t0002g0140
a0002c0002t0002g0141
a0002c0002t0002g0142
a0002c0002t0002g0143
a0002c0002t0002g0144
a0002c0002t0002g0145
a0002c0002t0002g0146
a0002c0002t0002g0148
a0002c0002t0002g0149
a0002c0002t0002g0151
a0002c0002t0002g0152
a0002c0002t0002g0155
a0002c0002t0002g0209
a0002c0002t0002g0240
a0002c0002t0002g0258
a0002c0002t0002g0285
a0002c0002t0003g0004
a0002c0002t0003g0031
a0002c0002t0003g0048
a0002c0002t0003g0049
a0002c0002t0003g0059
a0002c0002t0003g0060
a0002c0002t0003g0061
a0002c0002t0003g0091
a0002c0002t0003g0095
a0002c0002t0003g0096
a0002c0002t0003g0097
a0002c0002t0003g0098
a0002c0002t0003g0118
a0002c0002t0003g0134
a0002c0002t0003g0160
a0002c0002t0003g0232
a0002c0002t0003g0233
a0002c0002t0003g0236
a0002c0002t0003g0237
a0002c0002t0003g0238
a0002c0002t0003g0239
a0002c0002t0003g0244
a0002c0002t0003g0245
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0248
a0002c0002t0003g0250
a0002c0002t0003g0252
a0002c0002t0003g0253
a0002c0002t0003g0255
a0002c0002t0005g0241
a0002c0002t0006g0147
a0002c0002t0019g0243
a0002c0002t0027g0242
a0002c0002t0028g0249
a0002c0002t0030g0254
a0002c0002t0033g0053
a0002c0002t0035g0286
a0003c0003t0002g0223
a0003c0003t0008g0022
a0003c0003t0009g0219
a0006c0006t0003g0023
a0006c0006t0003g0234
 160 HG00140.hp2
HG00280.hp1
HG00323.hp1
others(157): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp1
HG00423.hp2
HG00558.hp1
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00642.hp1
HG00738.hp1
HG00741.hp2
HG01070.hp2
HG01099.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01243.hp2
HG01255.hp2
HG01257.hp1
HG01258.hp1
HG01358.hp1
HG01361.hp2
HG01516.hp2
HG01517.hp1
HG01943.hp2
HG01975.hp2
HG01978.hp1
HG01981.hp2
HG02027.hp2
HG02040.hp1
HG02056.hp2
HG02071.hp1
HG02074.hp2
HG02080.hp2
HG02083.hp2
HG02129.hp2
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02148.hp1
HG02273.hp2
HG02300.hp2
HG02486.hp1
HG02523.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02622.hp1
HG02647.hp2
HG02683.hp1
HG02735.hp1
HG02738.hp2
HG02809.hp2
HG02886.hp2
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03098.hp1
HG03098.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03486.hp1
HG03491.hp1
HG03492.hp2
HG03669.hp2
HG03688.hp2
HG03704.hp1
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp2
HG04204.hp2
HG06807.hp2
NA18747.hp1
NA18906.hp1
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18947.hp1
NA18949.hp1
NA18950.hp1
NA18952.hp1
NA18953.hp2
NA18954.hp2
NA18959.hp1
NA18960.hp2
NA18963.hp1
NA18965.hp1
NA18965.hp2
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18975.hp2
NA18977.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18981.hp1
NA18982.hp2
NA18983.hp1
NA18984.hp2
NA18986.hp2
NA18988.hp1
NA18991.hp1
NA18992.hp2
NA18993.hp1
NA18995.hp2
NA18998.hp1
NA19010.hp1
NA19011.hp1
NA19054.hp1
NA19055.hp2
NA19056.hp1
NA19058.hp1
NA19060.hp1
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp2
NA19076.hp2
NA19077.hp1
NA19081.hp2
NA19086.hp2
NA19087.hp1
NA20129.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp2
NA21309.hp1
 intron_variant MODIFIER c.79-4136G>T
c.79-4136G>T
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 1/13 chr8 18079723
chr8:18079804 G
G
 A
A
 108 a0001c0001t0001g0102
a0001c0001t0001g0153
a0001c0001t0001g0226
others(105): Show 
a0001c0001t0001g0102
a0001c0001t0001g0153
a0001c0001t0001g0226
a0001c0001t0001g0257
a0001c0001t0001g0284
a0001c0001t0002g0216
a0001c0001t0002g0220
a0001c0001t0002g0235
a0001c0001t0002g0251
a0001c0001t0006g0047
a0001c0001t0006g0154
a0001c0001t0006g0215
a0001c0001t0006g0217
a0001c0001t0006g0221
a0001c0001t0006g0222
a0001c0001t0006g0224
a0001c0001t0006g0225
a0001c0001t0006g0227
a0001c0001t0014g0027
a0001c0008t0006g0218
a0001c0009t0001g0094
a0002c0002t0001g0013
a0002c0002t0001g0136
a0002c0002t0001g0150
a0002c0002t0002g0001
a0002c0002t0002g0008
a0002c0002t0002g0017
a0002c0002t0002g0018
a0002c0002t0002g0021
a0002c0002t0002g0028
a0002c0002t0002g0034
a0002c0002t0002g0035
a0002c0002t0002g0036
a0002c0002t0002g0037
a0002c0002t0002g0038
a0002c0002t0002g0039
a0002c0002t0002g0092
a0002c0002t0002g0093
a0002c0002t0002g0099
a0002c0002t0002g0100
a0002c0002t0002g0120
a0002c0002t0002g0131
a0002c0002t0002g0132
a0002c0002t0002g0133
a0002c0002t0002g0135
a0002c0002t0002g0137
a0002c0002t0002g0138
a0002c0002t0002g0139
a0002c0002t0002g0140
a0002c0002t0002g0141
a0002c0002t0002g0142
a0002c0002t0002g0143
a0002c0002t0002g0144
a0002c0002t0002g0145
a0002c0002t0002g0146
a0002c0002t0002g0148
a0002c0002t0002g0149
a0002c0002t0002g0151
a0002c0002t0002g0152
a0002c0002t0002g0155
a0002c0002t0002g0209
a0002c0002t0002g0240
a0002c0002t0002g0258
a0002c0002t0002g0285
a0002c0002t0003g0004
a0002c0002t0003g0031
a0002c0002t0003g0048
a0002c0002t0003g0049
a0002c0002t0003g0059
a0002c0002t0003g0060
a0002c0002t0003g0061
a0002c0002t0003g0091
a0002c0002t0003g0095
a0002c0002t0003g0096
a0002c0002t0003g0097
a0002c0002t0003g0098
a0002c0002t0003g0116
a0002c0002t0003g0118
a0002c0002t0003g0134
a0002c0002t0003g0160
a0002c0002t0003g0232
a0002c0002t0003g0233
a0002c0002t0003g0236
a0002c0002t0003g0237
a0002c0002t0003g0238
a0002c0002t0003g0239
a0002c0002t0003g0244
a0002c0002t0003g0245
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0248
a0002c0002t0003g0250
a0002c0002t0003g0252
a0002c0002t0003g0253
a0002c0002t0003g0255
a0002c0002t0005g0241
a0002c0002t0006g0147
a0002c0002t0019g0243
a0002c0002t0027g0242
a0002c0002t0028g0249
a0002c0002t0030g0254
a0002c0002t0033g0053
a0002c0002t0035g0286
a0003c0003t0002g0223
a0003c0003t0008g0022
a0003c0003t0009g0219
a0006c0006t0003g0023
a0006c0006t0003g0234
 160 HG00140.hp2
HG00280.hp1
HG00323.hp1
others(157): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp1
HG00423.hp2
HG00558.hp1
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00642.hp1
HG00738.hp1
HG00741.hp2
HG01070.hp2
HG01099.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01243.hp2
HG01255.hp2
HG01257.hp1
HG01258.hp1
HG01358.hp1
HG01361.hp2
HG01516.hp2
HG01517.hp1
HG01943.hp2
HG01975.hp2
HG01978.hp1
HG01981.hp2
HG02027.hp2
HG02040.hp1
HG02056.hp2
HG02071.hp1
HG02074.hp2
HG02080.hp2
HG02083.hp2
HG02129.hp2
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02148.hp1
HG02273.hp2
HG02300.hp2
HG02486.hp1
HG02523.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02622.hp1
HG02647.hp2
HG02683.hp1
HG02735.hp1
HG02738.hp2
HG02809.hp2
HG02886.hp2
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03098.hp1
HG03098.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03486.hp1
HG03491.hp1
HG03492.hp2
HG03669.hp2
HG03688.hp2
HG03704.hp1
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp2
HG04204.hp2
HG06807.hp2
NA18747.hp1
NA18906.hp1
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18947.hp1
NA18949.hp1
NA18950.hp1
NA18952.hp1
NA18953.hp2
NA18954.hp2
NA18959.hp1
NA18960.hp2
NA18963.hp1
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp2
NA18975.hp2
NA18977.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18981.hp1
NA18982.hp2
NA18983.hp1
NA18984.hp2
NA18986.hp2
NA18988.hp1
NA18991.hp1
NA18992.hp2
NA18993.hp1
NA18995.hp2
NA18998.hp1
NA19010.hp1
NA19011.hp1
NA19054.hp1
NA19055.hp2
NA19056.hp1
NA19058.hp1
NA19060.hp1
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp2
NA19076.hp2
NA19077.hp1
NA19081.hp2
NA19083.hp2
NA19086.hp2
NA19087.hp1
NA20129.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp2
NA21309.hp1
 intron_variant MODIFIER c.78+4177C>T
c.78+4177C>T
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 1/13 chr8 18079804
chr8:18079855 C
C
 T
T
 109 a0001c0001t0001g0102
a0001c0001t0001g0153
a0001c0001t0001g0226
others(106): Show 
a0001c0001t0001g0102
a0001c0001t0001g0153
a0001c0001t0001g0226
a0001c0001t0001g0257
a0001c0001t0001g0284
a0001c0001t0002g0216
a0001c0001t0002g0220
a0001c0001t0002g0235
a0001c0001t0002g0251
a0001c0001t0006g0047
a0001c0001t0006g0154
a0001c0001t0006g0215
a0001c0001t0006g0217
a0001c0001t0006g0221
a0001c0001t0006g0222
a0001c0001t0006g0224
a0001c0001t0006g0225
a0001c0001t0006g0227
a0001c0001t0013g0281
a0001c0001t0014g0027
a0001c0008t0006g0218
a0001c0009t0001g0094
a0002c0002t0001g0013
a0002c0002t0001g0032
a0002c0002t0001g0136
a0002c0002t0001g0150
a0002c0002t0002g0001
a0002c0002t0002g0008
a0002c0002t0002g0017
a0002c0002t0002g0018
a0002c0002t0002g0021
a0002c0002t0002g0028
a0002c0002t0002g0034
a0002c0002t0002g0035
a0002c0002t0002g0036
a0002c0002t0002g0037
a0002c0002t0002g0038
a0002c0002t0002g0039
a0002c0002t0002g0092
a0002c0002t0002g0093
a0002c0002t0002g0099
a0002c0002t0002g0100
a0002c0002t0002g0120
a0002c0002t0002g0131
a0002c0002t0002g0132
a0002c0002t0002g0133
a0002c0002t0002g0135
a0002c0002t0002g0137
a0002c0002t0002g0138
a0002c0002t0002g0139
a0002c0002t0002g0140
a0002c0002t0002g0141
a0002c0002t0002g0142
a0002c0002t0002g0143
a0002c0002t0002g0144
a0002c0002t0002g0145
a0002c0002t0002g0146
a0002c0002t0002g0148
a0002c0002t0002g0149
a0002c0002t0002g0151
a0002c0002t0002g0152
a0002c0002t0002g0155
a0002c0002t0002g0209
a0002c0002t0002g0240
a0002c0002t0002g0258
a0002c0002t0002g0285
a0002c0002t0003g0004
a0002c0002t0003g0031
a0002c0002t0003g0048
a0002c0002t0003g0049
a0002c0002t0003g0059
a0002c0002t0003g0060
a0002c0002t0003g0061
a0002c0002t0003g0091
a0002c0002t0003g0095
a0002c0002t0003g0096
a0002c0002t0003g0097
a0002c0002t0003g0098
a0002c0002t0003g0118
a0002c0002t0003g0134
a0002c0002t0003g0160
a0002c0002t0003g0232
a0002c0002t0003g0233
a0002c0002t0003g0236
a0002c0002t0003g0237
a0002c0002t0003g0238
a0002c0002t0003g0239
a0002c0002t0003g0244
a0002c0002t0003g0245
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0248
a0002c0002t0003g0250
a0002c0002t0003g0252
a0002c0002t0003g0253
a0002c0002t0003g0255
a0002c0002t0005g0241
a0002c0002t0006g0147
a0002c0002t0019g0243
a0002c0002t0027g0242
a0002c0002t0028g0249
a0002c0002t0030g0254
a0002c0002t0033g0053
a0002c0002t0035g0286
a0003c0003t0002g0223
a0003c0003t0008g0022
a0003c0003t0009g0219
a0006c0006t0003g0023
a0006c0006t0003g0234
 162 HG00140.hp2
HG00280.hp1
HG00323.hp1
others(159): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp1
HG00423.hp2
HG00558.hp1
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00642.hp1
HG00738.hp1
HG00741.hp2
HG01070.hp2
HG01099.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01243.hp2
HG01255.hp2
HG01257.hp1
HG01258.hp1
HG01358.hp1
HG01361.hp2
HG01516.hp2
HG01517.hp1
HG01943.hp2
HG01975.hp2
HG01978.hp1
HG01981.hp2
HG02027.hp2
HG02040.hp1
HG02056.hp2
HG02071.hp1
HG02074.hp2
HG02080.hp2
HG02083.hp2
HG02129.hp2
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02148.hp1
HG02273.hp2
HG02300.hp2
HG02486.hp1
HG02523.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02622.hp1
HG02647.hp2
HG02683.hp1
HG02735.hp1
HG02738.hp2
HG02809.hp2
HG02886.hp2
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03098.hp1
HG03098.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03486.hp1
HG03491.hp1
HG03492.hp2
HG03669.hp2
HG03688.hp2
HG03704.hp1
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp2
HG04204.hp2
HG06807.hp2
NA18747.hp1
NA18906.hp1
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18947.hp1
NA18949.hp1
NA18950.hp1
NA18952.hp1
NA18953.hp2
NA18954.hp2
NA18959.hp1
NA18960.hp2
NA18963.hp1
NA18965.hp1
NA18965.hp2
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18975.hp2
NA18977.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18981.hp1
NA18982.hp2
NA18983.hp1
NA18984.hp2
NA18986.hp2
NA18988.hp1
NA18991.hp1
NA18992.hp2
NA18993.hp1
NA18995.hp2
NA18998.hp1
NA19010.hp1
NA19011.hp1
NA19054.hp1
NA19055.hp2
NA19056.hp1
NA19058.hp1
NA19060.hp1
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp2
NA19076.hp2
NA19077.hp1
NA19081.hp2
NA19083.hp2
NA19086.hp2
NA19087.hp1
NA20129.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp2
NA21309.hp1
 intron_variant MODIFIER c.78+4126G>A
c.78+4126G>A
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 1/13 chr8 18079855
chr8:18080021 G
G
 A
A
 65 a0001c0001t0001g0153
a0001c0001t0001g0226
a0001c0001t0002g0216
others(62): Show 
a0001c0001t0001g0153
a0001c0001t0001g0226
a0001c0001t0002g0216
a0001c0001t0002g0220
a0001c0001t0006g0047
a0001c0001t0006g0154
a0001c0001t0006g0215
a0001c0001t0006g0217
a0001c0001t0006g0221
a0001c0001t0006g0222
a0001c0001t0006g0224
a0001c0001t0006g0225
a0001c0001t0006g0227
a0001c0001t0014g0027
a0001c0008t0006g0218
a0002c0002t0001g0013
a0002c0002t0001g0032
a0002c0002t0001g0136
a0002c0002t0001g0150
a0002c0002t0002g0001
a0002c0002t0002g0008
a0002c0002t0002g0017
a0002c0002t0002g0018
a0002c0002t0002g0021
a0002c0002t0002g0028
a0002c0002t0002g0034
a0002c0002t0002g0035
a0002c0002t0002g0036
a0002c0002t0002g0037
a0002c0002t0002g0038
a0002c0002t0002g0039
a0002c0002t0002g0092
a0002c0002t0002g0093
a0002c0002t0002g0099
a0002c0002t0002g0100
a0002c0002t0002g0120
a0002c0002t0002g0131
a0002c0002t0002g0132
a0002c0002t0002g0133
a0002c0002t0002g0135
a0002c0002t0002g0137
a0002c0002t0002g0138
a0002c0002t0002g0139
a0002c0002t0002g0140
a0002c0002t0002g0141
a0002c0002t0002g0142
a0002c0002t0002g0143
a0002c0002t0002g0144
a0002c0002t0002g0145
a0002c0002t0002g0146
a0002c0002t0002g0148
a0002c0002t0002g0149
a0002c0002t0002g0151
a0002c0002t0002g0152
a0002c0002t0002g0155
a0002c0002t0002g0209
a0002c0002t0002g0258
a0002c0002t0002g0285
a0002c0002t0003g0118
a0002c0002t0006g0147
a0002c0002t0033g0053
a0002c0002t0035g0286
a0003c0003t0002g0223
a0003c0003t0008g0022
a0003c0003t0009g0219
 106 HG00140.hp2
HG00280.hp1
HG00323.hp1
others(103): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp1
HG00597.hp2
HG00642.hp1
HG00738.hp1
HG00741.hp2
HG01070.hp2
HG01099.hp1
HG01106.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01243.hp2
HG01255.hp2
HG01257.hp1
HG01258.hp1
HG01361.hp2
HG01516.hp2
HG01517.hp1
HG01978.hp1
HG02056.hp2
HG02071.hp1
HG02074.hp2
HG02080.hp2
HG02129.hp2
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02273.hp2
HG02300.hp2
HG02486.hp1
HG02523.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp2
HG02615.hp2
HG02622.hp1
HG02647.hp2
HG02683.hp1
HG02735.hp1
HG02809.hp2
HG02886.hp2
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03098.hp2
HG03209.hp2
HG03239.hp1
HG03486.hp1
HG03492.hp2
HG03688.hp2
HG03831.hp2
HG03927.hp1
HG04115.hp2
HG06807.hp2
NA18747.hp1
NA18906.hp1
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18942.hp1
NA18959.hp1
NA18963.hp1
NA18965.hp1
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18975.hp2
NA18977.hp1
NA18979.hp2
NA18981.hp1
NA18982.hp2
NA18983.hp1
NA18984.hp2
NA18986.hp2
NA18993.hp1
NA18995.hp2
NA19054.hp1
NA19056.hp1
NA19058.hp1
NA19060.hp1
NA19060.hp2
NA19063.hp1
NA19064.hp2
NA19066.hp2
NA19067.hp2
NA19068.hp2
NA19076.hp2
NA19077.hp1
NA19086.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.78+3960C>T
c.78+3960C>T
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 1/13 chr8 18080021
chr8:18080061 G
G
 C
C
 2 a0001c0001t0001g0226
a0001c0001t0006g0227
a0001c0001t0001g0226
a0001c0001t0006g0227
 2 HG00597.hp2
NA18970.hp2
HG00597.hp2
NA18970.hp2
 intron_variant MODIFIER c.78+3920C>G
c.78+3920C>G
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 1/13 chr8 18080061
chr8:18080085 C
C
 T
T
 106 a0001c0001t0001g0153
a0001c0001t0001g0226
a0001c0001t0001g0257
others(103): Show 
a0001c0001t0001g0153
a0001c0001t0001g0226
a0001c0001t0001g0257
a0001c0001t0001g0284
a0001c0001t0002g0216
a0001c0001t0002g0220
a0001c0001t0002g0235
a0001c0001t0002g0251
a0001c0001t0006g0047
a0001c0001t0006g0154
a0001c0001t0006g0215
a0001c0001t0006g0217
a0001c0001t0006g0221
a0001c0001t0006g0222
a0001c0001t0006g0224
a0001c0001t0006g0225
a0001c0001t0006g0227
a0001c0001t0014g0027
a0001c0008t0006g0218
a0001c0009t0001g0094
a0002c0002t0001g0013
a0002c0002t0001g0032
a0002c0002t0001g0136
a0002c0002t0001g0150
a0002c0002t0002g0001
a0002c0002t0002g0008
a0002c0002t0002g0017
a0002c0002t0002g0018
a0002c0002t0002g0021
a0002c0002t0002g0028
a0002c0002t0002g0034
a0002c0002t0002g0035
a0002c0002t0002g0036
a0002c0002t0002g0037
a0002c0002t0002g0038
a0002c0002t0002g0039
a0002c0002t0002g0092
a0002c0002t0002g0093
a0002c0002t0002g0099
a0002c0002t0002g0100
a0002c0002t0002g0120
a0002c0002t0002g0131
a0002c0002t0002g0132
a0002c0002t0002g0133
a0002c0002t0002g0135
a0002c0002t0002g0137
a0002c0002t0002g0138
a0002c0002t0002g0139
a0002c0002t0002g0140
a0002c0002t0002g0141
a0002c0002t0002g0142
a0002c0002t0002g0143
a0002c0002t0002g0144
a0002c0002t0002g0145
a0002c0002t0002g0146
a0002c0002t0002g0148
a0002c0002t0002g0149
a0002c0002t0002g0151
a0002c0002t0002g0152
a0002c0002t0002g0155
a0002c0002t0002g0209
a0002c0002t0002g0240
a0002c0002t0002g0258
a0002c0002t0002g0285
a0002c0002t0003g0004
a0002c0002t0003g0031
a0002c0002t0003g0048
a0002c0002t0003g0049
a0002c0002t0003g0059
a0002c0002t0003g0060
a0002c0002t0003g0061
a0002c0002t0003g0091
a0002c0002t0003g0095
a0002c0002t0003g0096
a0002c0002t0003g0097
a0002c0002t0003g0098
a0002c0002t0003g0118
a0002c0002t0003g0134
a0002c0002t0003g0232
a0002c0002t0003g0233
a0002c0002t0003g0236
a0002c0002t0003g0237
a0002c0002t0003g0238
a0002c0002t0003g0239
a0002c0002t0003g0244
a0002c0002t0003g0245
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0248
a0002c0002t0003g0250
a0002c0002t0003g0252
a0002c0002t0003g0253
a0002c0002t0003g0255
a0002c0002t0005g0241
a0002c0002t0006g0147
a0002c0002t0019g0243
a0002c0002t0027g0242
a0002c0002t0028g0249
a0002c0002t0030g0254
a0002c0002t0033g0053
a0002c0002t0035g0286
a0003c0003t0002g0223
a0003c0003t0008g0022
a0003c0003t0009g0219
a0006c0006t0003g0023
a0006c0006t0003g0234
 159 HG00140.hp2
HG00280.hp1
HG00323.hp1
others(156): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp1
HG00423.hp2
HG00558.hp1
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00642.hp1
HG00738.hp1
HG00741.hp2
HG01070.hp2
HG01099.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01243.hp2
HG01255.hp2
HG01257.hp1
HG01258.hp1
HG01358.hp1
HG01361.hp2
HG01516.hp2
HG01517.hp1
HG01943.hp2
HG01975.hp2
HG01978.hp1
HG02027.hp2
HG02040.hp1
HG02056.hp2
HG02071.hp1
HG02074.hp2
HG02080.hp2
HG02083.hp2
HG02129.hp2
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02148.hp1
HG02273.hp2
HG02300.hp2
HG02486.hp1
HG02523.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02622.hp1
HG02647.hp2
HG02683.hp1
HG02735.hp1
HG02738.hp2
HG02809.hp2
HG02886.hp2
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03098.hp1
HG03098.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03486.hp1
HG03491.hp1
HG03492.hp2
HG03669.hp2
HG03688.hp2
HG03704.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp2
HG04204.hp2
HG06807.hp2
NA18747.hp1
NA18906.hp1
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18947.hp1
NA18949.hp1
NA18950.hp1
NA18952.hp1
NA18953.hp2
NA18954.hp2
NA18959.hp1
NA18960.hp2
NA18963.hp1
NA18965.hp1
NA18965.hp2
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18975.hp2
NA18977.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18981.hp1
NA18982.hp2
NA18983.hp1
NA18984.hp2
NA18986.hp2
NA18988.hp1
NA18991.hp1
NA18992.hp2
NA18993.hp1
NA18995.hp2
NA18998.hp1
NA19010.hp1
NA19011.hp1
NA19054.hp1
NA19055.hp2
NA19056.hp1
NA19058.hp1
NA19060.hp1
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp2
NA19076.hp2
NA19077.hp1
NA19081.hp2
NA19083.hp2
NA19086.hp2
NA19087.hp1
NA20129.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp2
NA21309.hp1
 intron_variant MODIFIER c.78+3896G>A
c.78+3896G>A
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 1/13 chr8 18080085
chr8:18080133 G
G
 C
C
 1 a0001c0001t0001g0045
a0001c0001t0001g0045
 2 HG01255.hp1
HG01358.hp2
HG01255.hp1
HG01358.hp2
 intron_variant MODIFIER c.78+3848C>G
c.78+3848C>G
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 1/13 chr8 18080133
chr8:18080145 T
T
 A
A
 1 a0001c0001t0013g0281
a0001c0001t0013g0281
 1 HG02976.hp2
HG02976.hp2
 intron_variant MODIFIER c.78+3836A>T
c.78+3836A>T
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 1/13 chr8 18080145
chr8:18080167 C
C
 G
G
 1 a0003c0003t0001g0280
a0003c0003t0001g0280
 1 NA19010.hp2
NA19010.hp2
 intron_variant MODIFIER c.78+3814G>C
c.78+3814G>C
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 1/13 chr8 18080167
chr8:18080168 G
G
 A
A
 2 a0003c0003t0001g0280
a0003c0003t0008g0088
a0003c0003t0001g0280
a0003c0003t0008g0088
 2 HG02280.hp2
NA19010.hp2
HG02280.hp2
NA19010.hp2
 intron_variant MODIFIER c.78+3813C>T
c.78+3813C>T
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 1/13 chr8 18080168
chr8:18080199 C
C
 G
G
 28 a0001c0001t0001g0072
a0001c0001t0004g0010
a0001c0001t0004g0011
others(25): Show 
a0001c0001t0001g0072
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0029
a0001c0001t0004g0065
a0001c0001t0004g0066
a0001c0001t0004g0067
a0001c0001t0004g0068
a0001c0001t0004g0069
a0001c0001t0004g0070
a0001c0001t0004g0071
a0001c0001t0004g0079
a0001c0001t0004g0080
a0001c0001t0004g0081
a0001c0001t0004g0083
a0001c0001t0004g0084
a0001c0001t0004g0089
a0001c0001t0004g0090
a0001c0001t0007g0058
a0001c0001t0007g0064
a0001c0001t0007g0073
a0001c0001t0007g0074
a0001c0001t0007g0075
a0001c0001t0007g0077
a0001c0001t0007g0078
a0001c0001t0020g0076
a0001c0001t0021g0057
a0001c0001t0022g0082
 35 HG00323.hp2
HG00438.hp2
HG01167.hp1
others(32): Show 
HG00323.hp2
HG00438.hp2
HG01167.hp1
HG01169.hp1
HG01257.hp2
HG01261.hp1
HG01361.hp1
HG01433.hp1
HG01496.hp1
HG01884.hp2
HG01952.hp1
HG02083.hp1
HG02257.hp1
HG02273.hp1
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG03195.hp1
HG03225.hp1
HG03540.hp1
HG04115.hp1
HG04204.hp1
HG06807.hp1
NA18612.hp1
NA18945.hp2
NA18949.hp2
NA18967.hp2
NA18972.hp1
NA18995.hp1
NA18999.hp1
NA19004.hp2
NA19043.hp1
NA19054.hp2
NA19086.hp1
NA19090.hp2
 intron_variant MODIFIER c.78+3782G>C
c.78+3782G>C
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 1/13 chr8 18080199
chr8:18080214 T
T
 C
C
 109 a0001c0001t0001g0102
a0001c0001t0001g0153
a0001c0001t0001g0226
others(106): Show 
a0001c0001t0001g0102
a0001c0001t0001g0153
a0001c0001t0001g0226
a0001c0001t0001g0257
a0001c0001t0002g0216
a0001c0001t0002g0220
a0001c0001t0002g0235
a0001c0001t0002g0251
a0001c0001t0006g0047
a0001c0001t0006g0154
a0001c0001t0006g0215
a0001c0001t0006g0217
a0001c0001t0006g0221
a0001c0001t0006g0222
a0001c0001t0006g0224
a0001c0001t0006g0225
a0001c0001t0006g0227
a0001c0001t0013g0281
a0001c0001t0014g0027
a0001c0008t0006g0218
a0001c0009t0001g0094
a0002c0002t0001g0013
a0002c0002t0001g0032
a0002c0002t0001g0136
a0002c0002t0001g0150
a0002c0002t0002g0001
a0002c0002t0002g0008
a0002c0002t0002g0017
a0002c0002t0002g0018
a0002c0002t0002g0021
a0002c0002t0002g0028
a0002c0002t0002g0034
a0002c0002t0002g0035
a0002c0002t0002g0036
a0002c0002t0002g0037
a0002c0002t0002g0038
a0002c0002t0002g0039
a0002c0002t0002g0092
a0002c0002t0002g0093
a0002c0002t0002g0099
a0002c0002t0002g0100
a0002c0002t0002g0120
a0002c0002t0002g0131
a0002c0002t0002g0132
a0002c0002t0002g0133
a0002c0002t0002g0135
a0002c0002t0002g0137
a0002c0002t0002g0138
a0002c0002t0002g0139
a0002c0002t0002g0140
a0002c0002t0002g0141
a0002c0002t0002g0142
a0002c0002t0002g0143
a0002c0002t0002g0144
a0002c0002t0002g0145
a0002c0002t0002g0146
a0002c0002t0002g0148
a0002c0002t0002g0149
a0002c0002t0002g0151
a0002c0002t0002g0152
a0002c0002t0002g0155
a0002c0002t0002g0156
a0002c0002t0002g0157
a0002c0002t0002g0209
a0002c0002t0002g0240
a0002c0002t0002g0258
a0002c0002t0002g0285
a0002c0002t0003g0004
a0002c0002t0003g0031
a0002c0002t0003g0048
a0002c0002t0003g0049
a0002c0002t0003g0059
a0002c0002t0003g0060
a0002c0002t0003g0061
a0002c0002t0003g0091
a0002c0002t0003g0095
a0002c0002t0003g0096
a0002c0002t0003g0097
a0002c0002t0003g0098
a0002c0002t0003g0118
a0002c0002t0003g0134
a0002c0002t0003g0232
a0002c0002t0003g0233
a0002c0002t0003g0236
a0002c0002t0003g0237
a0002c0002t0003g0238
a0002c0002t0003g0239
a0002c0002t0003g0244
a0002c0002t0003g0245
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0248
a0002c0002t0003g0250
a0002c0002t0003g0252
a0002c0002t0003g0253
a0002c0002t0003g0255
a0002c0002t0005g0241
a0002c0002t0006g0147
a0002c0002t0019g0243
a0002c0002t0027g0242
a0002c0002t0028g0249
a0002c0002t0030g0254
a0002c0002t0033g0053
a0002c0002t0035g0286
a0003c0003t0002g0223
a0003c0003t0008g0022
a0003c0003t0009g0219
a0006c0006t0003g0023
a0006c0006t0003g0234
 162 HG00140.hp2
HG00280.hp1
HG00323.hp1
others(159): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp1
HG00423.hp2
HG00558.hp1
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00642.hp1
HG00738.hp1
HG00741.hp2
HG01070.hp2
HG01099.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01243.hp2
HG01255.hp2
HG01256.hp1
HG01257.hp1
HG01258.hp1
HG01258.hp2
HG01358.hp1
HG01361.hp2
HG01516.hp2
HG01517.hp1
HG01943.hp2
HG01975.hp2
HG01978.hp1
HG01981.hp2
HG02027.hp2
HG02040.hp1
HG02056.hp2
HG02071.hp1
HG02074.hp2
HG02080.hp2
HG02083.hp2
HG02129.hp2
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02148.hp1
HG02273.hp2
HG02300.hp2
HG02486.hp1
HG02523.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02622.hp1
HG02647.hp2
HG02683.hp1
HG02735.hp1
HG02738.hp2
HG02809.hp2
HG02886.hp2
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03098.hp1
HG03098.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03486.hp1
HG03491.hp1
HG03492.hp2
HG03669.hp2
HG03688.hp2
HG03704.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp2
HG04204.hp2
HG06807.hp2
NA18747.hp1
NA18906.hp1
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18947.hp1
NA18949.hp1
NA18950.hp1
NA18952.hp1
NA18953.hp2
NA18954.hp2
NA18959.hp1
NA18960.hp2
NA18963.hp1
NA18965.hp1
NA18965.hp2
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18975.hp2
NA18977.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18981.hp1
NA18982.hp2
NA18983.hp1
NA18984.hp2
NA18986.hp2
NA18988.hp1
NA18991.hp1
NA18992.hp2
NA18993.hp1
NA18995.hp2
NA18998.hp1
NA19010.hp1
NA19011.hp1
NA19054.hp1
NA19055.hp2
NA19056.hp1
NA19058.hp1
NA19060.hp1
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp2
NA19076.hp2
NA19077.hp1
NA19081.hp2
NA19086.hp2
NA19087.hp1
NA20129.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp2
NA21309.hp1
 intron_variant MODIFIER c.78+3767A>G
c.78+3767A>G
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 1/13 chr8 18080214
chr8:18080222 C
C
 T
T
 1 a0001c0001t0003g0159
a0001c0001t0003g0159
 1 HG03942.hp1
HG03942.hp1
 intron_variant MODIFIER c.78+3759G>A
c.78+3759G>A
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 1/13 chr8 18080222
chr8:18080233 A
A
 C
C
 110 a0001c0001t0001g0102
a0001c0001t0001g0153
a0001c0001t0001g0226
others(107): Show 
a0001c0001t0001g0102
a0001c0001t0001g0153
a0001c0001t0001g0226
a0001c0001t0001g0257
a0001c0001t0002g0216
a0001c0001t0002g0220
a0001c0001t0002g0235
a0001c0001t0002g0251
a0001c0001t0006g0047
a0001c0001t0006g0154
a0001c0001t0006g0215
a0001c0001t0006g0217
a0001c0001t0006g0221
a0001c0001t0006g0222
a0001c0001t0006g0224
a0001c0001t0006g0225
a0001c0001t0006g0227
a0001c0001t0013g0281
a0001c0001t0014g0027
a0001c0008t0006g0218
a0001c0009t0001g0094
a0002c0002t0001g0013
a0002c0002t0001g0032
a0002c0002t0001g0136
a0002c0002t0001g0150
a0002c0002t0002g0001
a0002c0002t0002g0008
a0002c0002t0002g0017
a0002c0002t0002g0018
a0002c0002t0002g0021
a0002c0002t0002g0028
a0002c0002t0002g0034
a0002c0002t0002g0035
a0002c0002t0002g0036
a0002c0002t0002g0037
a0002c0002t0002g0038
a0002c0002t0002g0039
a0002c0002t0002g0092
a0002c0002t0002g0093
a0002c0002t0002g0099
a0002c0002t0002g0100
a0002c0002t0002g0120
a0002c0002t0002g0131
a0002c0002t0002g0132
a0002c0002t0002g0133
a0002c0002t0002g0135
a0002c0002t0002g0137
a0002c0002t0002g0138
a0002c0002t0002g0139
a0002c0002t0002g0140
a0002c0002t0002g0141
a0002c0002t0002g0142
a0002c0002t0002g0143
a0002c0002t0002g0144
a0002c0002t0002g0145
a0002c0002t0002g0146
a0002c0002t0002g0148
a0002c0002t0002g0149
a0002c0002t0002g0151
a0002c0002t0002g0152
a0002c0002t0002g0155
a0002c0002t0002g0156
a0002c0002t0002g0157
a0002c0002t0002g0209
a0002c0002t0002g0240
a0002c0002t0002g0258
a0002c0002t0002g0285
a0002c0002t0003g0004
a0002c0002t0003g0031
a0002c0002t0003g0048
a0002c0002t0003g0049
a0002c0002t0003g0059
a0002c0002t0003g0060
a0002c0002t0003g0061
a0002c0002t0003g0091
a0002c0002t0003g0095
a0002c0002t0003g0096
a0002c0002t0003g0097
a0002c0002t0003g0098
a0002c0002t0003g0101
a0002c0002t0003g0118
a0002c0002t0003g0134
a0002c0002t0003g0232
a0002c0002t0003g0233
a0002c0002t0003g0236
a0002c0002t0003g0237
a0002c0002t0003g0238
a0002c0002t0003g0239
a0002c0002t0003g0244
a0002c0002t0003g0245
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0248
a0002c0002t0003g0250
a0002c0002t0003g0252
a0002c0002t0003g0253
a0002c0002t0003g0255
a0002c0002t0005g0241
a0002c0002t0006g0147
a0002c0002t0019g0243
a0002c0002t0027g0242
a0002c0002t0028g0249
a0002c0002t0030g0254
a0002c0002t0033g0053
a0002c0002t0035g0286
a0003c0003t0002g0223
a0003c0003t0008g0022
a0003c0003t0009g0219
a0006c0006t0003g0023
a0006c0006t0003g0234
 163 HG00140.hp2
HG00280.hp1
HG00323.hp1
others(160): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp1
HG00423.hp2
HG00558.hp1
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00642.hp1
HG00738.hp1
HG00741.hp2
HG01070.hp2
HG01099.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01243.hp2
HG01255.hp2
HG01256.hp1
HG01257.hp1
HG01258.hp1
HG01258.hp2
HG01358.hp1
HG01361.hp2
HG01516.hp2
HG01517.hp1
HG01943.hp2
HG01975.hp2
HG01978.hp1
HG01981.hp2
HG02027.hp2
HG02040.hp1
HG02056.hp2
HG02071.hp1
HG02074.hp2
HG02080.hp2
HG02083.hp2
HG02129.hp2
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02148.hp1
HG02273.hp2
HG02300.hp2
HG02486.hp1
HG02523.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02622.hp1
HG02647.hp2
HG02683.hp1
HG02735.hp1
HG02738.hp2
HG02809.hp2
HG02886.hp2
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03098.hp1
HG03098.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03486.hp1
HG03491.hp1
HG03492.hp2
HG03669.hp2
HG03688.hp2
HG03704.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp2
HG04204.hp2
HG06807.hp2
NA18747.hp1
NA18906.hp1
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18947.hp1
NA18949.hp1
NA18950.hp1
NA18952.hp1
NA18953.hp2
NA18954.hp2
NA18956.hp2
NA18959.hp1
NA18960.hp2
NA18963.hp1
NA18965.hp1
NA18965.hp2
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18975.hp2
NA18977.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18981.hp1
NA18982.hp2
NA18983.hp1
NA18984.hp2
NA18986.hp2
NA18988.hp1
NA18991.hp1
NA18992.hp2
NA18993.hp1
NA18995.hp2
NA18998.hp1
NA19010.hp1
NA19011.hp1
NA19054.hp1
NA19055.hp2
NA19056.hp1
NA19058.hp1
NA19060.hp1
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp2
NA19076.hp2
NA19077.hp1
NA19081.hp2
NA19086.hp2
NA19087.hp1
NA20129.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp2
NA21309.hp1
 intron_variant MODIFIER c.78+3748T>G
c.78+3748T>G
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 1/13 chr8 18080233
chr8:18080237 T
T
 C
C
 2 a0001c0001t0013g0281
a0001c0001t0014g0027
a0001c0001t0013g0281
a0001c0001t0014g0027
 3 HG02895.hp2
HG02897.hp1
HG02976.hp2
HG02895.hp2
HG02897.hp1
HG02976.hp2
 intron_variant MODIFIER c.78+3744A>G
c.78+3744A>G
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 1/13 chr8 18080237
chr8:18080300 A
A
 G
G
 7 a0002c0002t0003g0025
a0002c0002t0003g0266
a0002c0002t0003g0267
others(4): Show 
a0002c0002t0003g0025
a0002c0002t0003g0266
a0002c0002t0003g0267
a0003c0003t0005g0024
a0003c0003t0005g0263
a0003c0003t0005g0264
a0003c0003t0005g0265
 11 HG02258.hp1
HG02559.hp1
HG02647.hp1
others(8): Show 
HG02258.hp1
HG02559.hp1
HG02647.hp1
HG02717.hp2
HG02886.hp1
HG03041.hp1
HG03130.hp2
HG03139.hp2
HG03471.hp2
NA18522.hp2
NA18906.hp2
 intron_variant MODIFIER c.78+3681T>C
c.78+3681T>C
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 1/13 chr8 18080300
chr8:18080309 C
C
 G
G
 28 a0001c0001t0001g0072
a0001c0001t0004g0010
a0001c0001t0004g0011
others(25): Show 
a0001c0001t0001g0072
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0029
a0001c0001t0004g0065
a0001c0001t0004g0066
a0001c0001t0004g0067
a0001c0001t0004g0068
a0001c0001t0004g0069
a0001c0001t0004g0070
a0001c0001t0004g0071
a0001c0001t0004g0079
a0001c0001t0004g0080
a0001c0001t0004g0081
a0001c0001t0004g0083
a0001c0001t0004g0084
a0001c0001t0004g0089
a0001c0001t0004g0090
a0001c0001t0007g0058
a0001c0001t0007g0064
a0001c0001t0007g0073
a0001c0001t0007g0074
a0001c0001t0007g0075
a0001c0001t0007g0077
a0001c0001t0007g0078
a0001c0001t0020g0076
a0001c0001t0021g0057
a0001c0001t0022g0082
 35 HG00323.hp2
HG00438.hp2
HG01167.hp1
others(32): Show 
HG00323.hp2
HG00438.hp2
HG01167.hp1
HG01169.hp1
HG01257.hp2
HG01261.hp1
HG01361.hp1
HG01433.hp1
HG01496.hp1
HG01884.hp2
HG01952.hp1
HG02083.hp1
HG02257.hp1
HG02273.hp1
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG03195.hp1
HG03225.hp1
HG03540.hp1
HG04115.hp1
HG04204.hp1
HG06807.hp1
NA18612.hp1
NA18945.hp2
NA18949.hp2
NA18967.hp2
NA18972.hp1
NA18995.hp1
NA18999.hp1
NA19004.hp2
NA19043.hp1
NA19054.hp2
NA19086.hp1
NA19090.hp2
 intron_variant MODIFIER c.78+3672G>C
c.78+3672G>C
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 1/13 chr8 18080309
chr8:18080417 C
C
 T
T
 1 a0003c0003t0005g0063
a0003c0003t0005g0063
 1 NA19043.hp2
NA19043.hp2
 intron_variant MODIFIER c.78+3564G>A
c.78+3564G>A
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 1/13 chr8 18080417
chr8:18080458 T
T
 C
C
 1 a0002c0002t0002g0039
a0002c0002t0002g0039
 2 HG01361.hp2
HG03239.hp1
HG01361.hp2
HG03239.hp1
 intron_variant MODIFIER c.78+3523A>G
c.78+3523A>G
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 1/13 chr8 18080458
chr8:18080509 A
A
 C
C
 108 a0001c0001t0001g0153
a0001c0001t0001g0158
a0001c0001t0001g0214
others(105): Show 
a0001c0001t0001g0153
a0001c0001t0001g0158
a0001c0001t0001g0214
a0001c0001t0001g0226
a0001c0001t0001g0257
a0001c0001t0002g0216
a0001c0001t0002g0220
a0001c0001t0002g0235
a0001c0001t0002g0251
a0001c0001t0006g0047
a0001c0001t0006g0154
a0001c0001t0006g0215
a0001c0001t0006g0217
a0001c0001t0006g0221
a0001c0001t0006g0222
a0001c0001t0006g0224
a0001c0001t0006g0225
a0001c0001t0006g0227
a0001c0008t0006g0218
a0001c0009t0001g0094
a0002c0002t0001g0013
a0002c0002t0001g0032
a0002c0002t0001g0136
a0002c0002t0001g0150
a0002c0002t0002g0001
a0002c0002t0002g0008
a0002c0002t0002g0017
a0002c0002t0002g0018
a0002c0002t0002g0021
a0002c0002t0002g0028
a0002c0002t0002g0034
a0002c0002t0002g0035
a0002c0002t0002g0036
a0002c0002t0002g0037
a0002c0002t0002g0038
a0002c0002t0002g0039
a0002c0002t0002g0092
a0002c0002t0002g0093
a0002c0002t0002g0099
a0002c0002t0002g0100
a0002c0002t0002g0120
a0002c0002t0002g0131
a0002c0002t0002g0132
a0002c0002t0002g0133
a0002c0002t0002g0135
a0002c0002t0002g0137
a0002c0002t0002g0138
a0002c0002t0002g0139
a0002c0002t0002g0140
a0002c0002t0002g0141
a0002c0002t0002g0142
a0002c0002t0002g0143
a0002c0002t0002g0144
a0002c0002t0002g0145
a0002c0002t0002g0146
a0002c0002t0002g0148
a0002c0002t0002g0149
a0002c0002t0002g0151
a0002c0002t0002g0152
a0002c0002t0002g0155
a0002c0002t0002g0156
a0002c0002t0002g0157
a0002c0002t0002g0209
a0002c0002t0002g0240
a0002c0002t0002g0258
a0002c0002t0002g0285
a0002c0002t0003g0004
a0002c0002t0003g0031
a0002c0002t0003g0048
a0002c0002t0003g0049
a0002c0002t0003g0059
a0002c0002t0003g0060
a0002c0002t0003g0061
a0002c0002t0003g0091
a0002c0002t0003g0095
a0002c0002t0003g0096
a0002c0002t0003g0097
a0002c0002t0003g0098
a0002c0002t0003g0118
a0002c0002t0003g0134
a0002c0002t0003g0232
a0002c0002t0003g0233
a0002c0002t0003g0236
a0002c0002t0003g0237
a0002c0002t0003g0238
a0002c0002t0003g0239
a0002c0002t0003g0244
a0002c0002t0003g0245
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0248
a0002c0002t0003g0250
a0002c0002t0003g0252
a0002c0002t0003g0253
a0002c0002t0003g0255
a0002c0002t0005g0241
a0002c0002t0006g0147
a0002c0002t0019g0243
a0002c0002t0027g0242
a0002c0002t0028g0249
a0002c0002t0030g0254
a0002c0002t0033g0053
a0002c0002t0035g0286
a0003c0003t0002g0223
a0003c0003t0008g0022
a0003c0003t0009g0219
a0006c0006t0003g0023
a0006c0006t0003g0234
 160 HG00140.hp2
HG00280.hp1
HG00323.hp1
others(157): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp1
HG00423.hp2
HG00558.hp1
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00642.hp1
HG00738.hp1
HG00741.hp2
HG01070.hp2
HG01099.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01243.hp2
HG01255.hp2
HG01256.hp1
HG01257.hp1
HG01258.hp1
HG01258.hp2
HG01358.hp1
HG01361.hp2
HG01433.hp2
HG01516.hp2
HG01517.hp1
HG01943.hp2
HG01975.hp2
HG01978.hp1
HG02027.hp2
HG02040.hp1
HG02056.hp2
HG02071.hp1
HG02074.hp2
HG02080.hp2
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02148.hp1
HG02273.hp2
HG02300.hp2
HG02486.hp1
HG02523.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02622.hp1
HG02647.hp2
HG02683.hp1
HG02735.hp1
HG02738.hp2
HG02809.hp2
HG02886.hp2
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03098.hp1
HG03098.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03486.hp1
HG03491.hp1
HG03492.hp2
HG03669.hp2
HG03688.hp2
HG03704.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp2
HG04204.hp2
HG06807.hp2
NA18747.hp1
NA18906.hp1
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18947.hp1
NA18949.hp1
NA18950.hp1
NA18952.hp1
NA18953.hp2
NA18954.hp2
NA18959.hp1
NA18960.hp2
NA18963.hp1
NA18965.hp1
NA18965.hp2
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18975.hp2
NA18977.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18981.hp1
NA18982.hp2
NA18983.hp1
NA18984.hp2
NA18986.hp2
NA18988.hp1
NA18991.hp1
NA18992.hp2
NA18993.hp1
NA18995.hp2
NA18998.hp1
NA19010.hp1
NA19011.hp1
NA19054.hp1
NA19055.hp2
NA19056.hp1
NA19058.hp1
NA19060.hp1
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp2
NA19076.hp2
NA19077.hp1
NA19081.hp2
NA19086.hp2
NA19087.hp1
NA20129.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp2
NA21309.hp1
 intron_variant MODIFIER c.78+3472T>G
c.78+3472T>G
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 1/13 chr8 18080509
chr8:18080571 T
T
 C
C
 1 a0001c0001t0001g0257
a0001c0001t0001g0257
 1 HG03927.hp2
HG03927.hp2
 intron_variant MODIFIER c.78+3410A>G
c.78+3410A>G
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 1/13 chr8 18080571
chr8:18080590 G
G
 A
A
 3 a0002c0002t0003g0273
a0002c0002t0003g0274
a0002c0002t0003g0275
a0002c0002t0003g0273
a0002c0002t0003g0274
a0002c0002t0003g0275
 3 HG02145.hp2
HG02895.hp1
HG03579.hp1
HG02145.hp2
HG02895.hp1
HG03579.hp1
 intron_variant MODIFIER c.78+3391C>T
c.78+3391C>T
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 1/13 chr8 18080590
chr8:18080649 C
C
 T
T
 1 a0002c0002t0002g0028
a0002c0002t0002g0028
 2 HG03098.hp2
HG03486.hp1
HG03098.hp2
HG03486.hp1
 intron_variant MODIFIER c.78+3332G>A
c.78+3332G>A
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 1/13 chr8 18080649
chr8:18080711 C
C
 T
T
 4 a0002c0002t0002g0034
a0002c0002t0002g0131
a0002c0002t0002g0132
others(1): Show 
a0002c0002t0002g0034
a0002c0002t0002g0131
a0002c0002t0002g0132
a0002c0002t0002g0133
 5 HG02129.hp2
HG02135.hp2
NA19060.hp1
others(2): Show 
HG02129.hp2
HG02135.hp2
NA19060.hp1
NA19063.hp1
NA19067.hp2
 intron_variant MODIFIER c.78+3270G>A
c.78+3270G>A
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 1/13 chr8 18080711
chr8:18080748 G
G
 C
C
 1 a0003c0003t0010g0283
a0003c0003t0010g0283
 1 HG01891.hp1
HG01891.hp1
 intron_variant MODIFIER c.78+3233C>G
c.78+3233C>G
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 1/13 chr8 18080748
chr8:18080880 T
T
 C
C
 2 a0001c0001t0001g0015
a0001c0001t0031g0117
a0001c0001t0001g0015
a0001c0001t0031g0117
 5 HG02165.hp1
HG04184.hp2
NA18953.hp1
others(2): Show 
HG02165.hp1
HG04184.hp2
NA18953.hp1
NA18993.hp2
NA18997.hp2
 intron_variant MODIFIER c.78+3101A>G
c.78+3101A>G
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 1/13 chr8 18080880
chr8:18080999 A
A
 G
G
 7 a0002c0002t0003g0025
a0002c0002t0003g0266
a0002c0002t0003g0267
others(4): Show 
a0002c0002t0003g0025
a0002c0002t0003g0266
a0002c0002t0003g0267
a0003c0003t0005g0024
a0003c0003t0005g0263
a0003c0003t0005g0264
a0003c0003t0005g0265
 11 HG02258.hp1
HG02559.hp1
HG02647.hp1
others(8): Show 
HG02258.hp1
HG02559.hp1
HG02647.hp1
HG02717.hp2
HG02886.hp1
HG03041.hp1
HG03130.hp2
HG03139.hp2
HG03471.hp2
NA18522.hp2
NA18906.hp2
 intron_variant MODIFIER c.78+2982T>C
c.78+2982T>C
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 1/13 chr8 18080999
chr8:18081065 C
C
 T
T
 109 a0001c0001t0001g0226
a0001c0001t0001g0256
a0001c0001t0001g0257
others(106): Show 
a0001c0001t0001g0226
a0001c0001t0001g0256
a0001c0001t0001g0257
a0001c0001t0001g0261
a0001c0001t0002g0216
a0001c0001t0002g0220
a0001c0001t0002g0235
a0001c0001t0002g0251
a0001c0001t0006g0047
a0001c0001t0006g0215
a0001c0001t0006g0217
a0001c0001t0006g0221
a0001c0001t0006g0222
a0001c0001t0006g0224
a0001c0001t0006g0225
a0001c0001t0006g0227
a0001c0001t0012g0050
a0001c0001t0012g0262
a0001c0007t0023g0279
a0001c0008t0006g0218
a0001c0009t0001g0094
a0002c0002t0001g0013
a0002c0002t0001g0032
a0002c0002t0001g0136
a0002c0002t0001g0150
a0002c0002t0002g0001
a0002c0002t0002g0008
a0002c0002t0002g0017
a0002c0002t0002g0018
a0002c0002t0002g0021
a0002c0002t0002g0034
a0002c0002t0002g0035
a0002c0002t0002g0036
a0002c0002t0002g0037
a0002c0002t0002g0038
a0002c0002t0002g0039
a0002c0002t0002g0092
a0002c0002t0002g0093
a0002c0002t0002g0099
a0002c0002t0002g0100
a0002c0002t0002g0120
a0002c0002t0002g0131
a0002c0002t0002g0132
a0002c0002t0002g0133
a0002c0002t0002g0135
a0002c0002t0002g0137
a0002c0002t0002g0138
a0002c0002t0002g0139
a0002c0002t0002g0140
a0002c0002t0002g0141
a0002c0002t0002g0142
a0002c0002t0002g0143
a0002c0002t0002g0144
a0002c0002t0002g0145
a0002c0002t0002g0146
a0002c0002t0002g0148
a0002c0002t0002g0149
a0002c0002t0002g0151
a0002c0002t0002g0152
a0002c0002t0002g0209
a0002c0002t0002g0240
a0002c0002t0002g0285
a0002c0002t0003g0004
a0002c0002t0003g0031
a0002c0002t0003g0048
a0002c0002t0003g0049
a0002c0002t0003g0059
a0002c0002t0003g0060
a0002c0002t0003g0061
a0002c0002t0003g0091
a0002c0002t0003g0095
a0002c0002t0003g0096
a0002c0002t0003g0097
a0002c0002t0003g0098
a0002c0002t0003g0118
a0002c0002t0003g0134
a0002c0002t0003g0210
a0002c0002t0003g0232
a0002c0002t0003g0233
a0002c0002t0003g0236
a0002c0002t0003g0237
a0002c0002t0003g0238
a0002c0002t0003g0239
a0002c0002t0003g0244
a0002c0002t0003g0245
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0248
a0002c0002t0003g0250
a0002c0002t0003g0252
a0002c0002t0003g0253
a0002c0002t0003g0255
a0002c0002t0005g0241
a0002c0002t0006g0147
a0002c0002t0019g0243
a0002c0002t0027g0242
a0002c0002t0028g0249
a0002c0002t0030g0254
a0002c0002t0035g0286
a0003c0003t0002g0223
a0003c0003t0008g0022
a0003c0003t0009g0062
a0003c0003t0009g0219
a0005c0005t0001g0213
a0005c0005t0011g0046
a0005c0005t0011g0211
a0005c0005t0011g0212
a0006c0006t0003g0023
a0006c0006t0003g0234
 162 HG00140.hp2
HG00280.hp1
HG00323.hp1
others(159): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp1
HG00423.hp1
HG00423.hp2
HG00558.hp1
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00642.hp1
HG00738.hp1
HG00741.hp2
HG01070.hp2
HG01099.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01243.hp2
HG01255.hp2
HG01257.hp1
HG01258.hp1
HG01358.hp1
HG01361.hp2
HG01516.hp2
HG01517.hp1
HG01943.hp2
HG01975.hp2
HG01978.hp1
HG02027.hp2
HG02040.hp1
HG02056.hp2
HG02071.hp1
HG02080.hp2
HG02083.hp2
HG02129.hp2
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02148.hp1
HG02257.hp2
HG02273.hp2
HG02300.hp2
HG02486.hp1
HG02523.hp1
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02622.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02735.hp1
HG02738.hp2
HG02809.hp2
HG02886.hp2
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03017.hp1
HG03098.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp2
HG03471.hp1
HG03491.hp1
HG03492.hp2
HG03669.hp2
HG03688.hp2
HG03704.hp1
HG03831.hp1
HG03834.hp1
HG03927.hp1
HG03927.hp2
HG04115.hp2
HG04204.hp2
HG04228.hp2
HG06807.hp2
NA18747.hp1
NA18906.hp1
NA18939.hp1
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18945.hp1
NA18947.hp1
NA18947.hp2
NA18949.hp1
NA18950.hp1
NA18952.hp1
NA18953.hp2
NA18954.hp2
NA18959.hp1
NA18960.hp2
NA18963.hp1
NA18965.hp1
NA18965.hp2
NA18966.hp2
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18975.hp2
NA18977.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18981.hp1
NA18982.hp2
NA18983.hp1
NA18984.hp2
NA18986.hp2
NA18988.hp1
NA18991.hp1
NA18992.hp2
NA18993.hp1
NA18995.hp2
NA18998.hp1
NA18998.hp2
NA19010.hp1
NA19011.hp1
NA19054.hp1
NA19055.hp2
NA19056.hp1
NA19058.hp1
NA19060.hp1
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp2
NA19076.hp2
NA19077.hp1
NA19081.hp2
NA19086.hp2
NA19087.hp1
NA20129.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp2
NA21309.hp1
 intron_variant MODIFIER c.78+2916G>A
c.78+2916G>A
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 1/13 chr8 18081065
chr8:18081108 G
G
 C
C
 1 a0003c0003t0005g0276
a0003c0003t0005g0276
 1 HG02717.hp1
HG02717.hp1
 intron_variant MODIFIER c.78+2873C>G
c.78+2873C>G
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 1/13 chr8 18081108
chr8:18081133 T
T
 C
C
 1 a0001c0001t0004g0089
a0001c0001t0004g0089
 1 HG02273.hp1
HG02273.hp1
 intron_variant MODIFIER c.78+2848A>G
c.78+2848A>G
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 1/13 chr8 18081133
chr8:18081194 A
A
 G
G
 2 a0001c0001t0013g0281
a0001c0001t0014g0027
a0001c0001t0013g0281
a0001c0001t0014g0027
 3 HG02895.hp2
HG02897.hp1
HG02976.hp2
HG02895.hp2
HG02897.hp1
HG02976.hp2
 intron_variant MODIFIER c.78+2787T>C
c.78+2787T>C
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 1/13 chr8 18081194
chr8:18081372 A
A
 C
C
 1 a0001c0007t0023g0279
a0001c0007t0023g0279
 1 HG02257.hp2
HG02257.hp2
 intron_variant MODIFIER c.78+2609T>G
c.78+2609T>G
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 1/13 chr8 18081372
chr8:18081443 T
T
 C
C
 1 a0002c0002t0003g0118
a0002c0002t0003g0118
 1 HG04115.hp2
HG04115.hp2
 intron_variant MODIFIER c.78+2538A>G
c.78+2538A>G
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 1/13 chr8 18081443
chr8:18081634 G
G
 C
C
 271 a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0009
others(268): Show 
a0001c0001t0001g0002
a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0019
a0001c0001t0001g0020
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0072
a0001c0001t0001g0102
a0001c0001t0001g0104
a0001c0001t0001g0153
a0001c0001t0001g0158
a0001c0001t0001g0161
a0001c0001t0001g0167
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0187
a0001c0001t0001g0190
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0214
a0001c0001t0001g0226
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0001t0001g0256
a0001c0001t0001g0257
a0001c0001t0001g0259
a0001c0001t0001g0261
a0001c0001t0001g0278
a0001c0001t0001g0284
a0001c0001t0002g0042
a0001c0001t0002g0165
a0001c0001t0002g0166
a0001c0001t0002g0173
a0001c0001t0002g0188
a0001c0001t0002g0189
a0001c0001t0002g0191
a0001c0001t0002g0195
a0001c0001t0002g0200
a0001c0001t0002g0201
a0001c0001t0002g0216
a0001c0001t0002g0220
a0001c0001t0002g0235
a0001c0001t0002g0251
a0001c0001t0003g0159
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0029
a0001c0001t0004g0065
a0001c0001t0004g0066
a0001c0001t0004g0067
a0001c0001t0004g0068
a0001c0001t0004g0069
a0001c0001t0004g0070
a0001c0001t0004g0071
a0001c0001t0004g0079
a0001c0001t0004g0080
a0001c0001t0004g0081
a0001c0001t0004g0083
a0001c0001t0004g0084
a0001c0001t0004g0089
a0001c0001t0004g0090
a0001c0001t0006g0047
a0001c0001t0006g0154
a0001c0001t0006g0215
a0001c0001t0006g0217
a0001c0001t0006g0221
a0001c0001t0006g0222
a0001c0001t0006g0224
a0001c0001t0006g0225
a0001c0001t0006g0227
a0001c0001t0007g0058
a0001c0001t0007g0064
a0001c0001t0007g0073
a0001c0001t0007g0074
a0001c0001t0007g0075
a0001c0001t0007g0077
a0001c0001t0007g0078
a0001c0001t0007g0228
a0001c0001t0007g0229
a0001c0001t0007g0260
a0001c0001t0012g0050
a0001c0001t0012g0262
a0001c0001t0013g0281
a0001c0001t0014g0027
a0001c0001t0015g0162
a0001c0001t0015g0181
a0001c0001t0016g0043
a0001c0001t0020g0076
a0001c0001t0021g0057
a0001c0001t0022g0082
a0001c0001t0031g0117
a0001c0001t0032g0176
a0001c0001t0034g0186
a0001c0007t0023g0279
a0001c0008t0006g0218
a0001c0009t0001g0094
a0002c0002t0001g0013
a0002c0002t0001g0032
a0002c0002t0001g0136
a0002c0002t0001g0150
a0002c0002t0002g0001
a0002c0002t0002g0008
a0002c0002t0002g0017
a0002c0002t0002g0018
a0002c0002t0002g0021
a0002c0002t0002g0028
a0002c0002t0002g0034
a0002c0002t0002g0035
a0002c0002t0002g0036
a0002c0002t0002g0037
a0002c0002t0002g0038
a0002c0002t0002g0039
a0002c0002t0002g0055
a0002c0002t0002g0092
a0002c0002t0002g0093
a0002c0002t0002g0099
a0002c0002t0002g0100
a0002c0002t0002g0120
a0002c0002t0002g0131
a0002c0002t0002g0132
a0002c0002t0002g0133
a0002c0002t0002g0135
a0002c0002t0002g0137
a0002c0002t0002g0138
a0002c0002t0002g0139
a0002c0002t0002g0140
a0002c0002t0002g0141
a0002c0002t0002g0142
a0002c0002t0002g0143
a0002c0002t0002g0144
a0002c0002t0002g0145
a0002c0002t0002g0146
a0002c0002t0002g0148
a0002c0002t0002g0149
a0002c0002t0002g0151
a0002c0002t0002g0152
a0002c0002t0002g0155
a0002c0002t0002g0156
a0002c0002t0002g0157
a0002c0002t0002g0196
a0002c0002t0002g0209
a0002c0002t0002g0240
a0002c0002t0002g0258
a0002c0002t0002g0285
a0002c0002t0003g0004
a0002c0002t0003g0006
a0002c0002t0003g0025
a0002c0002t0003g0031
a0002c0002t0003g0048
a0002c0002t0003g0049
a0002c0002t0003g0059
a0002c0002t0003g0060
a0002c0002t0003g0061
a0002c0002t0003g0091
a0002c0002t0003g0095
a0002c0002t0003g0096
a0002c0002t0003g0097
a0002c0002t0003g0098
a0002c0002t0003g0101
a0002c0002t0003g0103
a0002c0002t0003g0105
a0002c0002t0003g0106
a0002c0002t0003g0108
a0002c0002t0003g0109
a0002c0002t0003g0110
a0002c0002t0003g0111
a0002c0002t0003g0113
a0002c0002t0003g0115
a0002c0002t0003g0116
a0002c0002t0003g0118
a0002c0002t0003g0134
a0002c0002t0003g0160
a0002c0002t0003g0210
a0002c0002t0003g0232
a0002c0002t0003g0233
a0002c0002t0003g0236
a0002c0002t0003g0237
a0002c0002t0003g0238
a0002c0002t0003g0239
a0002c0002t0003g0244
a0002c0002t0003g0245
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0248
a0002c0002t0003g0250
a0002c0002t0003g0252
a0002c0002t0003g0253
a0002c0002t0003g0255
a0002c0002t0003g0266
a0002c0002t0003g0267
a0002c0002t0003g0273
a0002c0002t0003g0274
a0002c0002t0003g0275
a0002c0002t0004g0112
a0002c0002t0005g0241
a0002c0002t0006g0147
a0002c0002t0018g0270
a0002c0002t0019g0243
a0002c0002t0025g0054
a0002c0002t0027g0242
a0002c0002t0028g0249
a0002c0002t0029g0107
a0002c0002t0030g0254
a0002c0002t0033g0053
a0002c0002t0035g0286
a0003c0003t0001g0051
a0003c0003t0001g0163
a0003c0003t0001g0269
a0003c0003t0002g0223
a0003c0003t0005g0024
a0003c0003t0005g0026
a0003c0003t0005g0056
a0003c0003t0005g0063
a0003c0003t0005g0168
a0003c0003t0005g0206
a0003c0003t0005g0263
a0003c0003t0005g0264
a0003c0003t0005g0265
a0003c0003t0005g0276
a0003c0003t0005g0277
a0003c0003t0008g0022
a0003c0003t0008g0030
a0003c0003t0008g0085
a0003c0003t0008g0086
a0003c0003t0008g0087
a0003c0003t0008g0088
a0003c0003t0009g0014
a0003c0003t0009g0062
a0003c0003t0009g0198
a0003c0003t0009g0199
a0003c0003t0009g0219
a0003c0003t0010g0052
a0003c0003t0010g0164
a0003c0003t0010g0283
a0003c0003t0013g0271
a0003c0003t0017g0272
a0003c0003t0024g0282
a0003c0003t0026g0268
a0004c0004t0003g0007
a0004c0004t0003g0114
a0005c0005t0001g0213
a0005c0005t0011g0046
a0005c0005t0011g0211
a0005c0005t0011g0212
a0006c0006t0003g0023
a0006c0006t0003g0234
 395 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(392): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.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
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18952.hp1
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp1
NA18956.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18962.hp2
NA18963.hp1
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp2
NA18983.hp1
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18986.hp2
NA18988.hp1
NA18991.hp1
NA18991.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18995.hp1
NA18995.hp2
NA18997.hp1
NA18997.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19001.hp1
NA19001.hp2
NA19004.hp1
NA19004.hp2
NA19006.hp2
NA19007.hp2
NA19010.hp1
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19055.hp1
NA19055.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19057.hp2
NA19058.hp1
NA19058.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19076.hp2
NA19077.hp1
NA19077.hp2
NA19081.hp1
NA19081.hp2
NA19082.hp1
NA19082.hp2
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19090.hp1
NA19090.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.78+2347C>G
c.78+2347C>G
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 1/13 chr8 18081634
chr8:18081685 G
G
 A
A
 3 a0001c0001t0001g0016
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0016
a0001c0001t0001g0207
a0001c0001t0001g0208
 6 HG00280.hp2
HG00642.hp2
HG01496.hp2
others(3): Show 
HG00280.hp2
HG00642.hp2
HG01496.hp2
HG01515.hp1
HG01516.hp1
HG01517.hp2
 intron_variant MODIFIER c.78+2296C>T
c.78+2296C>T
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 1/13 chr8 18081685
chr8:18081868 G
G
 C
C
 1 a0003c0003t0005g0026
a0003c0003t0005g0026
 3 HG01891.hp2
HG02630.hp2
HG02809.hp1
HG01891.hp2
HG02630.hp2
HG02809.hp1
 intron_variant MODIFIER c.78+2113C>G
c.78+2113C>G
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 1/13 chr8 18081868
chr8:18081884 A
A
 T
T
 5 a0002c0002t0003g0210
a0005c0005t0001g0213
a0005c0005t0011g0046
others(2): Show 
a0002c0002t0003g0210
a0005c0005t0001g0213
a0005c0005t0011g0046
a0005c0005t0011g0211
a0005c0005t0011g0212
 6 HG02698.hp1
HG02698.hp2
HG03017.hp1
others(3): Show 
HG02698.hp1
HG02698.hp2
HG03017.hp1
HG03831.hp1
HG03834.hp1
HG04228.hp2
 intron_variant MODIFIER c.78+2097T>A
c.78+2097T>A
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 1/13 chr8 18081884
chr8:18081889 A
A
 G
G
 1 a0002c0002t0002g0120
a0002c0002t0002g0120
 1 HG01175.hp1
HG01175.hp1
 intron_variant MODIFIER c.78+2092T>C
c.78+2092T>C
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 1/13 chr8 18081889
chr8:18081937 A
A
 T
T
 1 a0003c0003t0001g0119
a0003c0003t0001g0119
 1 NA19076.hp1
NA19076.hp1
 intron_variant MODIFIER c.78+2044T>A
c.78+2044T>A
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 1/13 chr8 18081937
chr8:18082007 C
C
 T
T
 5 a0002c0002t0003g0210
a0005c0005t0001g0213
a0005c0005t0011g0046
others(2): Show 
a0002c0002t0003g0210
a0005c0005t0001g0213
a0005c0005t0011g0046
a0005c0005t0011g0211
a0005c0005t0011g0212
 6 HG02698.hp1
HG02698.hp2
HG03017.hp1
others(3): Show 
HG02698.hp1
HG02698.hp2
HG03017.hp1
HG03831.hp1
HG03834.hp1
HG04228.hp2
 intron_variant MODIFIER c.78+1974G>A
c.78+1974G>A
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 1/13 chr8 18082007
chr8:18082033 T
T
 G
G
 1 a0003c0003t0001g0280
a0003c0003t0001g0280
 1 NA19010.hp2
NA19010.hp2
 intron_variant MODIFIER c.78+1948A>C
c.78+1948A>C
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 1/13 chr8 18082033
chr8:18082047 A
A
 C
C
 1 a0002c0002t0003g0232
a0002c0002t0003g0232
 1 NA20905.hp2
NA20905.hp2
 intron_variant MODIFIER c.78+1934T>G
c.78+1934T>G
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 1/13 chr8 18082047
chr8:18082102 T
T
 A
A
 1 a0002c0002t0002g0209
a0002c0002t0002g0209
 1 HG02970.hp2
HG02970.hp2
 intron_variant MODIFIER c.78+1879A>T
c.78+1879A>T
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 1/13 chr8 18082102
chr8:18082128 A
A
 C
C
 87 a0001c0001t0001g0102
a0001c0001t0001g0104
a0001c0001t0001g0214
others(84): Show 
a0001c0001t0001g0102
a0001c0001t0001g0104
a0001c0001t0001g0214
a0001c0001t0001g0226
a0001c0001t0001g0256
a0001c0001t0001g0257
a0001c0001t0001g0259
a0001c0001t0002g0216
a0001c0001t0002g0220
a0001c0001t0002g0235
a0001c0001t0002g0251
a0001c0001t0006g0047
a0001c0001t0006g0215
a0001c0001t0006g0217
a0001c0001t0006g0221
a0001c0001t0006g0222
a0001c0001t0006g0224
a0001c0001t0006g0225
a0001c0001t0006g0227
a0001c0001t0007g0228
a0001c0001t0007g0229
a0001c0001t0007g0260
a0001c0001t0031g0117
a0001c0008t0006g0218
a0001c0009t0001g0094
a0002c0002t0001g0032
a0002c0002t0002g0021
a0002c0002t0002g0099
a0002c0002t0002g0100
a0002c0002t0002g0240
a0002c0002t0002g0258
a0002c0002t0003g0004
a0002c0002t0003g0006
a0002c0002t0003g0031
a0002c0002t0003g0048
a0002c0002t0003g0049
a0002c0002t0003g0059
a0002c0002t0003g0060
a0002c0002t0003g0061
a0002c0002t0003g0091
a0002c0002t0003g0095
a0002c0002t0003g0096
a0002c0002t0003g0097
a0002c0002t0003g0098
a0002c0002t0003g0101
a0002c0002t0003g0103
a0002c0002t0003g0105
a0002c0002t0003g0106
a0002c0002t0003g0108
a0002c0002t0003g0109
a0002c0002t0003g0110
a0002c0002t0003g0111
a0002c0002t0003g0113
a0002c0002t0003g0115
a0002c0002t0003g0116
a0002c0002t0003g0118
a0002c0002t0003g0232
a0002c0002t0003g0233
a0002c0002t0003g0236
a0002c0002t0003g0237
a0002c0002t0003g0238
a0002c0002t0003g0239
a0002c0002t0003g0244
a0002c0002t0003g0245
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0248
a0002c0002t0003g0250
a0002c0002t0003g0252
a0002c0002t0003g0253
a0002c0002t0003g0255
a0002c0002t0004g0112
a0002c0002t0005g0241
a0002c0002t0019g0243
a0002c0002t0027g0242
a0002c0002t0028g0249
a0002c0002t0029g0107
a0002c0002t0030g0254
a0003c0003t0002g0223
a0003c0003t0005g0026
a0003c0003t0008g0022
a0003c0003t0009g0062
a0003c0003t0009g0219
a0004c0004t0003g0007
a0004c0004t0003g0114
a0006c0006t0003g0023
a0006c0006t0003g0234
 117 HG00423.hp2
HG00558.hp1
HG00597.hp1
others(114): Show 
HG00423.hp2
HG00558.hp1
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG01099.hp1
HG01106.hp2
HG01109.hp2
HG01358.hp1
HG01891.hp2
HG01943.hp2
HG01952.hp2
HG01975.hp2
HG01981.hp2
HG02027.hp2
HG02040.hp1
HG02056.hp2
HG02083.hp2
HG02129.hp1
HG02148.hp1
HG02165.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp2
HG02683.hp1
HG02735.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02886.hp2
HG02896.hp2
HG02965.hp1
HG02970.hp1
HG03041.hp2
HG03098.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03239.hp2
HG03453.hp2
HG03471.hp1
HG03491.hp1
HG03669.hp2
HG03704.hp1
HG03927.hp1
HG03927.hp2
HG04115.hp2
HG04204.hp2
NA18747.hp2
NA18906.hp1
NA18939.hp1
NA18940.hp2
NA18941.hp2
NA18943.hp1
NA18944.hp1
NA18947.hp1
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18950.hp1
NA18952.hp1
NA18953.hp1
NA18953.hp2
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp2
NA18960.hp2
NA18962.hp2
NA18965.hp1
NA18966.hp1
NA18968.hp2
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18977.hp2
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18981.hp2
NA18984.hp1
NA18986.hp1
NA18986.hp2
NA18988.hp1
NA18991.hp1
NA18991.hp2
NA18992.hp2
NA18995.hp2
NA18998.hp1
NA18999.hp2
NA19001.hp2
NA19004.hp1
NA19007.hp2
NA19010.hp1
NA19011.hp1
NA19055.hp1
NA19055.hp2
NA19057.hp1
NA19060.hp2
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19067.hp1
NA19068.hp1
NA19081.hp2
NA19082.hp1
NA19084.hp1
NA19087.hp1
NA19088.hp2
NA20129.hp2
NA20752.hp1
NA20905.hp2
 intron_variant MODIFIER c.78+1853T>G
c.78+1853T>G
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 1/13 chr8 18082128
chr8:18082166 A
A
 C
C
 1 a0002c0002t0002g0093
a0002c0002t0002g0093
 1 HG01255.hp2
HG01255.hp2
 intron_variant MODIFIER c.78+1815T>G
c.78+1815T>G
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 1/13 chr8 18082166
chr8:18082203 T
T
 G
G
 1 a0002c0002t0002g0028
a0002c0002t0002g0028
 2 HG03098.hp2
HG03486.hp1
HG03098.hp2
HG03486.hp1
 intron_variant MODIFIER c.78+1778A>C
c.78+1778A>C
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 1/13 chr8 18082203
chr8:18082268 T
T
 C
C
 1 a0003c0003t0005g0277
a0003c0003t0005g0277
 1 HG03453.hp1
HG03453.hp1
 intron_variant MODIFIER c.78+1713A>G
c.78+1713A>G
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 1/13 chr8 18082268
chr8:18082499 C
C
 G
G
 33 a0001c0001t0001g0226
a0001c0001t0001g0230
a0001c0001t0001g0231
others(30): Show 
a0001c0001t0001g0226
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0001t0002g0216
a0001c0001t0002g0220
a0001c0001t0006g0047
a0001c0001t0006g0215
a0001c0001t0006g0217
a0001c0001t0006g0221
a0001c0001t0006g0222
a0001c0001t0006g0224
a0001c0001t0006g0225
a0001c0001t0006g0227
a0001c0001t0007g0228
a0001c0001t0007g0229
a0001c0001t0013g0281
a0001c0001t0014g0027
a0001c0007t0023g0279
a0001c0008t0006g0218
a0002c0002t0002g0021
a0002c0002t0002g0028
a0002c0002t0002g0055
a0002c0002t0003g0210
a0002c0002t0025g0054
a0002c0002t0033g0053
a0003c0003t0002g0223
a0003c0003t0005g0026
a0003c0003t0008g0022
a0003c0003t0009g0219
a0005c0005t0001g0213
a0005c0005t0011g0046
a0005c0005t0011g0211
a0005c0005t0011g0212
 43 HG00597.hp2
HG01099.hp1
HG01109.hp2
others(40): Show 
HG00597.hp2
HG01099.hp1
HG01109.hp2
HG01891.hp2
HG02257.hp2
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02886.hp2
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02970.hp1
HG02976.hp2
HG03017.hp1
HG03098.hp2
HG03209.hp2
HG03486.hp1
HG03486.hp2
HG03831.hp1
HG03834.hp1
HG03927.hp1
HG04228.hp2
NA18906.hp1
NA18940.hp2
NA18970.hp2
NA18972.hp2
NA18979.hp2
NA18986.hp2
NA18995.hp2
NA19001.hp1
NA19060.hp2
NA19064.hp2
NA21309.hp2
 intron_variant MODIFIER c.78+1482G>C
c.78+1482G>C
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 1/13 chr8 18082499
chr8:18082616 A
A
 G
G
 1 a0001c0001t0007g0058
a0001c0001t0007g0058
 1 HG04115.hp1
HG04115.hp1
 intron_variant MODIFIER c.78+1365T>C
c.78+1365T>C
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 1/13 chr8 18082616
chr8:18082684 A
A
 C
C
 1 a0001c0007t0023g0279
a0001c0007t0023g0279
 1 HG02257.hp2
HG02257.hp2
 intron_variant MODIFIER c.78+1297T>G
c.78+1297T>G
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 1/13 chr8 18082684
chr8:18082703 T
T
 C
C
 28 a0001c0001t0001g0214
a0001c0001t0001g0226
a0001c0001t0001g0230
others(25): Show 
a0001c0001t0001g0214
a0001c0001t0001g0226
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0001t0002g0216
a0001c0001t0002g0220
a0001c0001t0006g0047
a0001c0001t0006g0215
a0001c0001t0006g0217
a0001c0001t0006g0221
a0001c0001t0006g0222
a0001c0001t0006g0224
a0001c0001t0006g0225
a0001c0001t0006g0227
a0001c0001t0007g0228
a0001c0001t0007g0229
a0001c0007t0023g0279
a0001c0008t0006g0218
a0002c0002t0002g0021
a0002c0002t0003g0210
a0003c0003t0002g0223
a0003c0003t0005g0026
a0003c0003t0008g0022
a0003c0003t0009g0219
a0005c0005t0001g0213
a0005c0005t0011g0046
a0005c0005t0011g0211
a0005c0005t0011g0212
 36 HG00597.hp2
HG01099.hp1
HG01109.hp2
others(33): Show 
HG00597.hp2
HG01099.hp1
HG01109.hp2
HG01891.hp2
HG02129.hp1
HG02257.hp2
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02886.hp2
HG02896.hp2
HG02970.hp1
HG03017.hp1
HG03209.hp2
HG03831.hp1
HG03834.hp1
HG03927.hp1
HG04228.hp2
NA18906.hp1
NA18940.hp2
NA18970.hp2
NA18972.hp2
NA18979.hp2
NA18986.hp2
NA18995.hp2
NA19001.hp1
NA19060.hp2
NA19064.hp2
 intron_variant MODIFIER c.78+1278A>G
c.78+1278A>G
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 1/13 chr8 18082703
chr8:18082719 C
C
 A
A
 1 a0003c0003t0001g0280
a0003c0003t0001g0280
 1 NA19010.hp2
NA19010.hp2
 intron_variant MODIFIER c.78+1262G>T
c.78+1262G>T
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 1/13 chr8 18082719
chr8:18082741 C
C
 T
T
 1 a0001c0001t0021g0057
a0001c0001t0021g0057
 1 HG01952.hp1
HG01952.hp1
 intron_variant MODIFIER c.78+1240G>A
c.78+1240G>A
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 1/13 chr8 18082741
chr8:18082903 AATTTT
AATTTT
 A
A
 20 a0001c0001t0001g0226
a0001c0001t0001g0230
a0001c0001t0001g0231
others(17): Show 
a0001c0001t0001g0226
a0001c0001t0001g0230
a0001c0001t0001g0231
a0001c0001t0002g0216
a0001c0001t0002g0220
a0001c0001t0006g0047
a0001c0001t0006g0215
a0001c0001t0006g0217
a0001c0001t0006g0221
a0001c0001t0006g0222
a0001c0001t0006g0224
a0001c0001t0006g0225
a0001c0001t0006g0227
a0001c0001t0007g0228
a0001c0001t0007g0229
a0001c0008t0006g0218
a0002c0002t0002g0021
a0003c0003t0002g0223
a0003c0003t0008g0022
a0003c0003t0009g0219
 25 HG00597.hp2
HG01099.hp1
HG01109.hp2
others(22): Show 
HG00597.hp2
HG01099.hp1
HG01109.hp2
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02647.hp2
HG02683.hp1
HG02735.hp1
HG02809.hp2
HG02886.hp2
HG02896.hp2
HG02970.hp1
HG03209.hp2
HG03927.hp1
NA18906.hp1
NA18940.hp2
NA18970.hp2
NA18972.hp2
NA18979.hp2
NA18986.hp2
NA18995.hp2
NA19001.hp1
NA19060.hp2
NA19064.hp2
 intron_variant MODIFIER c.78+1073_78+1077del
others(5): Show 
c.78+1073_78+1077delAAAAT
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 1/13 chr8 18082903
chr8:18083001 T
T
 A
A
 96 a0001c0001t0001g0072
a0001c0001t0001g0256
a0001c0001t0001g0257
others(93): Show 
a0001c0001t0001g0072
a0001c0001t0001g0256
a0001c0001t0001g0257
a0001c0001t0001g0259
a0001c0001t0001g0261
a0001c0001t0002g0235
a0001c0001t0002g0251
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0029
a0001c0001t0004g0065
a0001c0001t0004g0066
a0001c0001t0004g0067
a0001c0001t0004g0068
a0001c0001t0004g0069
a0001c0001t0004g0070
a0001c0001t0004g0071
a0001c0001t0004g0079
a0001c0001t0004g0080
a0001c0001t0004g0081
a0001c0001t0004g0083
a0001c0001t0004g0084
a0001c0001t0004g0089
a0001c0001t0004g0090
a0001c0001t0007g0058
a0001c0001t0007g0064
a0001c0001t0007g0073
a0001c0001t0007g0074
a0001c0001t0007g0075
a0001c0001t0007g0077
a0001c0001t0007g0078
a0001c0001t0007g0260
a0001c0001t0012g0050
a0001c0001t0012g0262
a0001c0001t0020g0076
a0001c0001t0021g0057
a0001c0001t0022g0082
a0002c0002t0002g0240
a0002c0002t0002g0258
a0002c0002t0003g0004
a0002c0002t0003g0025
a0002c0002t0003g0048
a0002c0002t0003g0049
a0002c0002t0003g0059
a0002c0002t0003g0060
a0002c0002t0003g0061
a0002c0002t0003g0091
a0002c0002t0003g0232
a0002c0002t0003g0233
a0002c0002t0003g0236
a0002c0002t0003g0237
a0002c0002t0003g0238
a0002c0002t0003g0239
a0002c0002t0003g0244
a0002c0002t0003g0245
a0002c0002t0003g0246
a0002c0002t0003g0247
a0002c0002t0003g0248
a0002c0002t0003g0250
a0002c0002t0003g0252
a0002c0002t0003g0253
a0002c0002t0003g0255
a0002c0002t0003g0266
a0002c0002t0003g0267
a0002c0002t0003g0273
a0002c0002t0003g0274
a0002c0002t0003g0275
a0002c0002t0005g0241
a0002c0002t0018g0270
a0002c0002t0019g0243
a0002c0002t0027g0242
a0002c0002t0028g0249
a0002c0002t0030g0254
a0003c0003t0001g0051
a0003c0003t0001g0269
a0003c0003t0005g0024
a0003c0003t0005g0063
a0003c0003t0005g0263
a0003c0003t0005g0264
a0003c0003t0005g0265
a0003c0003t0005g0276
a0003c0003t0005g0277
a0003c0003t0008g0030
a0003c0003t0008g0085
a0003c0003t0008g0086
a0003c0003t0008g0087
a0003c0003t0008g0088
a0003c0003t0009g0062
a0003c0003t0010g0052
a0003c0003t0010g0283
a0003c0003t0013g0271
a0003c0003t0017g0272
a0003c0003t0024g0282
a0003c0003t0026g0268
a0006c0006t0003g0023
a0006c0006t0003g0234
 122 HG00323.hp2
HG00423.hp1
HG00423.hp2
others(119): Show 
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp2
HG00558.hp1
HG00621.hp1
HG00621.hp2
HG01106.hp2
HG01167.hp1
HG01169.hp1
HG01257.hp2
HG01261.hp1
HG01361.hp1
HG01433.hp1
HG01496.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01952.hp1
HG01975.hp2
HG02027.hp2
HG02040.hp1
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02145.hp2
HG02148.hp1
HG02257.hp1
HG02258.hp1
HG02273.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02451.hp1
HG02559.hp1
HG02572.hp2
HG02602.hp1
HG02622.hp2
HG02647.hp1
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp2
HG02738.hp2
HG02886.hp1
HG02895.hp1
HG02965.hp1
HG02976.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03491.hp1
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp2
HG03704.hp1
HG03710.hp2
HG03927.hp2
HG04115.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18522.hp2
NA18612.hp1
NA18747.hp2
NA18906.hp2
NA18939.hp1
NA18941.hp2
NA18943.hp1
NA18945.hp1
NA18945.hp2
NA18947.hp2
NA18949.hp1
NA18949.hp2
NA18953.hp2
NA18954.hp2
NA18960.hp2
NA18967.hp2
NA18968.hp2
NA18972.hp1
NA18978.hp2
NA18979.hp1
NA18988.hp1
NA18991.hp1
NA18992.hp2
NA18995.hp1
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA19004.hp2
NA19010.hp1
NA19043.hp1
NA19043.hp2
NA19054.hp2
NA19063.hp2
NA19064.hp1
NA19067.hp1
NA19081.hp2
NA19086.hp1
NA19087.hp1
NA19090.hp2
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20905.hp2
 intron_variant MODIFIER c.78+980A>T
c.78+980A>T
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 1/13 chr8 18083001
chr8:18083230 A
A
 C
C
 1 a0002c0002t0002g0092
a0002c0002t0002g0092
 1 HG02071.hp1
HG02071.hp1
 intron_variant MODIFIER c.78+751T>G
c.78+751T>G
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 1/13 chr8 18083230
chr8:18083240 G
G
 A
A
 1 a0001c0001t0001g0278
a0001c0001t0001g0278
 1 HG03688.hp1
HG03688.hp1
 intron_variant MODIFIER c.78+741C>T
c.78+741C>T
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 1/13 chr8 18083240
chr8:18083363 G
G
 A
A
 1 a0003c0003t0005g0026
a0003c0003t0005g0026
 3 HG01891.hp2
HG02630.hp2
HG02809.hp1
HG01891.hp2
HG02630.hp2
HG02809.hp1
 intron_variant MODIFIER c.78+618C>T
c.78+618C>T
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 1/13 chr8 18083363
chr8:18083515 G
G
 C
C
 1 a0001c0007t0023g0279
a0001c0007t0023g0279
 1 HG02257.hp2
HG02257.hp2
 intron_variant MODIFIER c.78+466C>G
c.78+466C>G
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 1/13 chr8 18083515
chr8:18083605 A
A
 C
C
 1 a0002c0002t0003g0091
a0002c0002t0003g0091
 1 HG01106.hp2
HG01106.hp2
 intron_variant MODIFIER c.78+376T>G
c.78+376T>G
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 1/13 chr8 18083605
chr8:18083626 T
T
 A
A
 1 a0003c0003t0001g0280
a0003c0003t0001g0280
 1 NA19010.hp2
NA19010.hp2
 intron_variant MODIFIER c.78+355A>T
c.78+355A>T
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 1/13 chr8 18083626
chr8:18083636 T
T
 C
C
 1 a0001c0001t0004g0090
a0001c0001t0004g0090
 1 NA18999.hp1
NA18999.hp1
 intron_variant MODIFIER c.78+345A>G
c.78+345A>G
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 1/13 chr8 18083636
chr8:18083680 G
G
 C
C
 6 a0001c0001t0013g0281
a0001c0001t0014g0027
a0002c0002t0002g0028
others(3): Show 
a0001c0001t0013g0281
a0001c0001t0014g0027
a0002c0002t0002g0028
a0002c0002t0002g0055
a0002c0002t0025g0054
a0002c0002t0033g0053
 8 HG02559.hp2
HG02895.hp2
HG02897.hp1
others(5): Show 
HG02559.hp2
HG02895.hp2
HG02897.hp1
HG02976.hp2
HG03098.hp2
HG03486.hp1
HG03486.hp2
NA21309.hp2
 intron_variant MODIFIER c.78+301C>G
c.78+301C>G
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 1/13 chr8 18083680
chr8:18083728 C
C
 G
G
 39 a0001c0001t0001g0072
a0001c0001t0004g0010
a0001c0001t0004g0011
others(36): Show 
a0001c0001t0001g0072
a0001c0001t0004g0010
a0001c0001t0004g0011
a0001c0001t0004g0029
a0001c0001t0004g0065
a0001c0001t0004g0066
a0001c0001t0004g0067
a0001c0001t0004g0068
a0001c0001t0004g0069
a0001c0001t0004g0070
a0001c0001t0004g0071
a0001c0001t0004g0079
a0001c0001t0004g0080
a0001c0001t0004g0081
a0001c0001t0004g0083
a0001c0001t0004g0084
a0001c0001t0004g0089
a0001c0001t0004g0090
a0001c0001t0007g0058
a0001c0001t0007g0064
a0001c0001t0007g0073
a0001c0001t0007g0074
a0001c0001t0007g0075
a0001c0001t0007g0077
a0001c0001t0007g0078
a0001c0001t0020g0076
a0001c0001t0021g0057
a0001c0001t0022g0082
a0002c0002t0003g0059
a0002c0002t0003g0060
a0002c0002t0003g0061
a0003c0003t0005g0056
a0003c0003t0005g0063
a0003c0003t0008g0030
a0003c0003t0008g0085
a0003c0003t0008g0086
a0003c0003t0008g0087
a0003c0003t0008g0088
a0003c0003t0009g0062
 47 HG00323.hp2
HG00438.hp2
HG01167.hp1
others(44): Show 
HG00323.hp2
HG00438.hp2
HG01167.hp1
HG01169.hp1
HG01257.hp2
HG01261.hp1
HG01361.hp1
HG01433.hp1
HG01496.hp1
HG01884.hp1
HG01884.hp2
HG01952.hp1
HG02083.hp1
HG02257.hp1
HG02273.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02818.hp2
HG02976.hp1
HG03098.hp1
HG03130.hp1
HG03195.hp1
HG03225.hp1
HG03453.hp2
HG03471.hp1
HG03540.hp1
HG03579.hp2
HG04115.hp1
HG04204.hp1
HG06807.hp1
NA18612.hp1
NA18945.hp2
NA18949.hp2
NA18967.hp2
NA18972.hp1
NA18995.hp1
NA18999.hp1
NA19004.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp2
NA19086.hp1
NA19090.hp2
NA20129.hp1
NA20129.hp2
 intron_variant MODIFIER c.78+253G>C
c.78+253G>C
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 1/13 chr8 18083728
chr8:18083804 G
G
 A
A
 3 a0003c0003t0010g0052
a0003c0003t0010g0283
a0003c0003t0024g0282
a0003c0003t0010g0052
a0003c0003t0010g0283
a0003c0003t0024g0282
 4 HG01891.hp1
HG02109.hp1
HG03195.hp2
others(1): Show 
HG01891.hp1
HG02109.hp1
HG03195.hp2
NA19240.hp2
 intron_variant MODIFIER c.78+177C>T
c.78+177C>T
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 1/13 chr8 18083804
chr8:18083879 G
G
 A
A
 1 a0001c0001t0001g0284
a0001c0001t0001g0284
 1 NA19083.hp2
NA19083.hp2
 intron_variant MODIFIER c.78+102C>T
c.78+102C>T
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 1/13 chr8 18083879
chr8:18083887 T
T
 C
C
 1 a0002c0002t0002g0285
a0002c0002t0002g0285
 1 NA18966.hp2
NA18966.hp2
 intron_variant MODIFIER c.78+94A>G
c.78+94A>G
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 1/13 chr8 18083887
chr8:18083906 C
C
 T
T
 5 a0001c0001t0014g0027
a0002c0002t0002g0028
a0002c0002t0002g0055
others(2): Show 
a0001c0001t0014g0027
a0002c0002t0002g0028
a0002c0002t0002g0055
a0002c0002t0025g0054
a0002c0002t0033g0053
 7 HG02559.hp2
HG02895.hp2
HG02897.hp1
others(4): Show 
HG02559.hp2
HG02895.hp2
HG02897.hp1
HG03098.hp2
HG03486.hp1
HG03486.hp2
NA21309.hp2
 intron_variant MODIFIER c.78+75G>A
c.78+75G>A
ASAH1 ENSG00000104763.20 transcript ENST00000637790.2 protein_coding 1/13 chr8 18083906

  • 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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