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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

  Error connecting to IGV?   ASMT_chrX_1610059_1648081  ASMT_chrX_1610059_1648081 (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 438
ensemblid ENSG00000196433.13
hgncid 750
symbol ASMT
name acetylserotonin O-methyltransferase
refseq_nuc NM_001171038.2
refseq_prot NP_001164509.1
ensembl_nuc ENST00000381241.9
ensembl_prot ENSP00000370639.3
mane_status MANE Select
chr chrX
start 1615059
end 1643081
strand +
ver v1.2
region chrX:1615059-1643081
region5000 chrX:1610059-1648081
regionname0 ASMT_chrX_1615059_1643081
regionname5000 ASMT_chrX_1610059_1648081

ahapid grch38/
chm13v2 		alen total AFR AMR EAS EUR SAS JPT regionname genename aa chr start end
a0001 1/0 373 134 39 28 52 3 11 45 ASMT_chrX_1610059_1648081 ASMT copy fasta chrX 1610059 1648081
a0002 0/1 373 74 16 18 27 5 7 21 ASMT_chrX_1610059_1648081 ASMT copy fasta chrX 1610059 1648081
a0003 0/0 373 3 3 0 0 0 0 0 ASMT_chrX_1610059_1648081 ASMT copy fasta chrX 1610059 1648081
a0004 0/0 373 2 0 0 1 0 1 0 ASMT_chrX_1610059_1648081 ASMT copy fasta chrX 1610059 1648081
a0005 0/0 373 1 1 0 0 0 0 0 ASMT_chrX_1610059_1648081 ASMT copy fasta chrX 1610059 1648081
a0006 0/0 373 1 1 0 0 0 0 0 ASMT_chrX_1610059_1648081 ASMT copy fasta chrX 1610059 1648081
a0007 0/0 250 1 0 0 1 0 0 1 ASMT_chrX_1610059_1648081 ASMT copy fasta chrX 1610059 1648081
a0008 0/0 215 1 0 0 1 0 0 1 ASMT_chrX_1610059_1648081 ASMT copy fasta chrX 1610059 1648081
a0009 0/0 373 1 0 0 0 0 1 0 ASMT_chrX_1610059_1648081 ASMT copy fasta chrX 1610059 1648081
a0010 0/0 308 1 0 0 1 0 0 1 ASMT_chrX_1610059_1648081 ASMT copy fasta chrX 1610059 1648081
a0011 0/0 171 1 0 0 1 0 0 0 ASMT_chrX_1610059_1648081 ASMT copy fasta chrX 1610059 1648081
a0012 0/0 139 1 0 0 1 0 0 1 ASMT_chrX_1610059_1648081 ASMT copy fasta chrX 1610059 1648081
a0013 0/0 139 1 0 0 1 0 0 0 ASMT_chrX_1610059_1648081 ASMT copy fasta chrX 1610059 1648081
a0014 0/0 52 1 0 0 1 0 0 1 ASMT_chrX_1610059_1648081 ASMT copy fasta chrX 1610059 1648081

chapid grch38/
chm13v2 		clen total AFR AMR EAS EUR SAS regionname genename cseq chr start end
c0001 1/0 1122 103 35 25 31 3 8 ASMT_chrX_1610059_1648081 ASMT copy fasta chrX 1610059 1648081
c0002 0/1 1122 71 15 18 26 5 6 ASMT_chrX_1610059_1648081 ASMT copy fasta chrX 1610059 1648081
c0003 0/0 1122 31 4 3 21 0 3 ASMT_chrX_1610059_1648081 ASMT copy fasta chrX 1610059 1648081
c0004 0/0 1122 2 0 0 1 0 1 ASMT_chrX_1610059_1648081 ASMT copy fasta chrX 1610059 1648081
c0005 0/0 1122 2 2 0 0 0 0 ASMT_chrX_1610059_1648081 ASMT copy fasta chrX 1610059 1648081
c0006 0/0 1122 2 0 0 1 0 1 ASMT_chrX_1610059_1648081 ASMT copy fasta chrX 1610059 1648081
c0007 0/0 1123 1 0 0 1 0 0 ASMT_chrX_1610059_1648081 ASMT copy fasta chrX 1610059 1648081
c0008 0/0 1121 1 0 0 1 0 0 ASMT_chrX_1610059_1648081 ASMT copy fasta chrX 1610059 1648081
c0009 0/0 1122 1 1 0 0 0 0 ASMT_chrX_1610059_1648081 ASMT copy fasta chrX 1610059 1648081
c0010 0/0 1122 1 1 0 0 0 0 ASMT_chrX_1610059_1648081 ASMT copy fasta chrX 1610059 1648081
c0011 0/0 1122 1 1 0 0 0 0 ASMT_chrX_1610059_1648081 ASMT copy fasta chrX 1610059 1648081
c0012 0/0 1099 1 0 0 1 0 0 ASMT_chrX_1610059_1648081 ASMT copy fasta chrX 1610059 1648081
c0013 0/0 1123 1 0 0 1 0 0 ASMT_chrX_1610059_1648081 ASMT copy fasta chrX 1610059 1648081
c0014 0/0 1122 1 0 0 0 0 1 ASMT_chrX_1610059_1648081 ASMT copy fasta chrX 1610059 1648081
c0015 0/0 1121 1 0 0 1 0 0 ASMT_chrX_1610059_1648081 ASMT copy fasta chrX 1610059 1648081
c0016 0/0 1122 1 1 0 0 0 0 ASMT_chrX_1610059_1648081 ASMT copy fasta chrX 1610059 1648081
c0017 0/0 1123 1 0 0 1 0 0 ASMT_chrX_1610059_1648081 ASMT copy fasta chrX 1610059 1648081
c0018 0/0 1121 1 0 0 1 0 0 ASMT_chrX_1610059_1648081 ASMT copy fasta chrX 1610059 1648081

thapid grch38
chm13v2 		tlen total AFR AMR EAS EUR SAS regionname genename tseq chr start end
t0001 0/0 209 156 48 29 64 5 10 ASMT_chrX_1610059_1648081 ASMT copy fasta chrX 1610059 1648081
t0002 1/1 209 64 11 16 23 3 9 ASMT_chrX_1610059_1648081 ASMT copy fasta chrX 1610059 1648081
t0003 0/0 209 1 1 0 0 0 0 ASMT_chrX_1610059_1648081 ASMT copy fasta chrX 1610059 1648081
t0004 0/0 209 1 0 0 0 0 1 ASMT_chrX_1610059_1648081 ASMT copy fasta chrX 1610059 1648081
t0005 0/0 209 1 0 1 0 0 0 ASMT_chrX_1610059_1648081 ASMT copy fasta chrX 1610059 1648081

ghapid grch38/
chm13v2 		total AFR AMR EAS EUR SAS regionname genename chr start end
g0001 0/0 2 2 0 0 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
g0002 0/0 1 1 0 0 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
g0003 0/0 1 0 0 1 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
g0004 0/0 1 1 0 0 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
g0005 0/0 1 0 0 1 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
g0006 0/0 1 1 0 0 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
g0007 0/0 1 1 0 0 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
g0008 0/0 1 1 0 0 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
g0009 0/0 1 1 0 0 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
g0010 0/0 1 1 0 0 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
g0011 0/0 1 1 0 0 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
g0012 0/0 1 1 0 0 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
g0013 0/0 1 0 0 1 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
g0014 0/0 1 1 0 0 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
g0015 0/0 1 1 0 0 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
g0016 0/0 1 1 0 0 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
g0017 0/0 1 0 1 0 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
g0018 0/0 1 0 0 0 0 1 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
g0019 0/0 1 1 0 0 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
g0020 0/0 1 1 0 0 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
g0021 0/0 1 1 0 0 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
g0022 0/0 1 1 0 0 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
g0023 0/0 1 0 1 0 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
g0024 0/0 1 0 0 0 0 1 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
g0025 0/0 1 0 0 0 0 1 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
g0026 0/0 1 0 1 0 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
g0027 0/0 1 0 1 0 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
g0028 0/0 1 0 0 1 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
g0029 0/0 1 0 0 1 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
g0030 0/0 1 0 0 1 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
g0031 0/0 1 0 1 0 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
g0032 0/0 1 0 0 1 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
g0033 0/0 1 0 0 1 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
g0034 0/0 1 0 0 1 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
g0035 0/0 1 0 1 0 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
g0036 0/0 1 0 0 1 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
g0037 0/0 1 0 1 0 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
g0038 0/0 1 0 0 1 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
g0039 0/0 1 0 0 1 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
g0040 0/0 1 0 0 0 1 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
g0041 0/0 1 0 0 1 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
g0042 0/0 1 0 0 1 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
g0043 0/0 1 1 0 0 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
g0044 0/0 1 0 1 0 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
g0045 0/0 1 1 0 0 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
g0046 0/0 1 1 0 0 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
g0047 0/0 1 0 1 0 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
g0048 0/0 1 0 1 0 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
g0049 0/0 1 0 0 1 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
g0050 0/0 1 0 0 0 0 1 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
g0051 0/0 1 0 0 1 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
g0052 0/0 1 0 0 1 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
g0053 0/0 1 0 1 0 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
g0054 0/0 1 0 0 1 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
g0055 0/0 1 0 0 1 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
g0056 0/0 1 0 0 0 1 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
g0057 0/0 1 0 1 0 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
g0058 0/0 1 0 0 1 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
g0059 0/0 1 0 0 1 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
g0060 0/0 1 0 0 1 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
g0061 0/0 1 0 1 0 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
g0062 0/0 1 0 1 0 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
g0063 0/0 1 0 1 0 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
g0064 0/0 1 0 1 0 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
g0065 0/0 1 0 0 1 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
g0066 0/0 1 0 0 0 0 1 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
g0067 0/0 1 0 0 0 1 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
g0068 0/0 1 0 1 0 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
g0069 0/0 1 1 0 0 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
g0070 0/0 1 1 0 0 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
g0071 0/0 1 1 0 0 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
g0072 0/0 1 1 0 0 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
g0073 0/0 1 0 0 1 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
g0074 0/0 1 1 0 0 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
g0075 0/0 1 0 0 0 0 1 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
g0076 0/0 1 0 1 0 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
g0077 0/0 1 0 0 1 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
g0078 0/0 1 0 0 0 0 1 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
g0079 0/0 1 0 0 1 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
g0080 0/0 1 0 0 1 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
g0081 0/0 1 0 0 1 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
g0082 0/0 1 0 1 0 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
g0083 0/0 1 1 0 0 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
g0084 0/0 1 0 0 1 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
g0085 0/0 1 0 0 1 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
g0086 0/0 1 0 0 1 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
g0087 0/0 1 0 1 0 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
g0088 0/0 1 0 1 0 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
g0089 0/0 1 0 1 0 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
g0090 0/0 1 1 0 0 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
g0091 0/0 1 0 0 1 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
g0092 0/0 1 0 0 1 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
g0093 0/0 1 0 0 1 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
g0094 0/0 1 0 0 0 0 1 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
g0095 0/0 1 0 0 1 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
g0096 0/0 1 0 0 1 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
g0097 0/0 1 0 0 1 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
g0098 0/0 1 0 1 0 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
g0099 0/0 1 0 0 1 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
g0100 0/0 1 0 0 1 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
g0101 0/0 1 0 0 1 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
g0102 0/0 1 0 0 1 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
g0103 0/0 1 0 0 1 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
g0104 0/0 1 0 0 0 0 1 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
g0105 0/0 1 0 0 1 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
g0106 0/0 1 0 0 1 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
g0107 0/0 1 0 0 1 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
g0108 0/0 1 0 0 1 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
g0109 0/0 1 0 0 1 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
g0110 0/0 1 0 0 1 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
g0111 0/0 1 0 0 1 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
g0112 0/0 1 0 0 1 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
g0113 0/0 1 0 0 1 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
g0114 0/0 1 0 0 1 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
g0115 0/0 1 0 0 1 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
g0116 0/0 1 0 0 0 1 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
g0117 0/0 1 0 0 0 1 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
g0118 0/0 1 1 0 0 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
g0119 0/0 1 0 1 0 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
g0120 0/0 1 0 0 0 0 1 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
g0121 0/0 1 1 0 0 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
g0122 0/0 1 1 0 0 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
g0123 0/0 1 1 0 0 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
g0124 0/0 1 0 1 0 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
g0125 0/0 1 0 1 0 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
g0126 0/0 1 0 0 0 0 1 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
g0127 0/0 1 0 1 0 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
g0128 0/0 1 0 1 0 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
g0129 0/0 1 0 0 0 0 1 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
g0130 0/0 1 0 0 1 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
g0131 0/0 1 0 0 1 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
g0132 0/0 1 0 0 0 0 1 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
g0133 0/0 1 1 0 0 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
g0134 0/0 1 1 0 0 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
g0135 0/0 1 1 0 0 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
g0136 0/0 1 1 0 0 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
g0137 0/0 1 0 0 1 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
g0138 0/0 1 1 0 0 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
g0139 0/0 1 1 0 0 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
g0140 0/0 1 0 1 0 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
g0141 0/0 1 0 0 0 0 1 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
g0142 0/0 1 0 0 0 0 1 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
g0143 0/0 1 0 1 0 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
g0144 0/0 1 1 0 0 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
g0145 0/0 1 1 0 0 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
g0146 0/0 1 0 1 0 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
g0147 0/0 1 0 0 1 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
g0148 0/0 1 0 0 0 0 1 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
g0149 0/0 1 0 0 1 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
g0150 0/0 1 0 0 1 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
g0151 0/0 1 0 0 1 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
g0152 0/0 1 0 0 0 0 1 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
g0153 0/0 1 0 1 0 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
g0154 0/0 1 0 1 0 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
g0155 0/0 1 0 0 1 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
g0156 0/0 1 0 0 1 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
g0157 0/0 1 0 1 0 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
g0158 0/0 1 1 0 0 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
g0159 0/0 1 1 0 0 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
g0160 0/0 1 1 0 0 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
g0161 0/0 1 0 0 1 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
g0162 0/0 1 0 0 1 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
g0163 0/0 1 0 0 1 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
g0164 0/0 1 0 0 0 0 1 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
g0165 0/0 1 0 1 0 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
g0166 0/0 1 0 0 1 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
g0167 0/0 1 0 0 1 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
g0168 0/0 1 0 1 0 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
g0169 0/0 1 0 0 1 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
g0170 0/0 1 0 0 1 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
g0171 0/0 1 1 0 0 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
g0172 0/0 1 0 0 1 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
g0173 0/0 1 0 0 1 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
g0174 0/0 1 0 0 1 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
g0175 0/0 1 1 0 0 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
g0176 0/0 1 0 0 1 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
g0177 0/0 1 0 1 0 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
g0178 0/0 1 0 1 0 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
g0179 0/0 1 0 0 1 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
g0180 0/0 1 0 1 0 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
g0181 0/0 1 0 0 0 1 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
g0182 0/0 1 0 0 1 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
g0183 0/0 1 1 0 0 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
g0184 0/0 1 1 0 0 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
g0185 0/0 1 0 0 1 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
g0186 0/0 1 0 0 1 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
g0187 0/0 1 0 0 1 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
g0188 0/0 1 0 0 0 0 1 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
g0189 0/0 1 1 0 0 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
g0190 0/0 1 1 0 0 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
g0191 0/0 1 0 0 0 1 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
g0192 0/0 1 0 0 1 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
g0193 0/0 1 0 0 1 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
g0194 0/0 1 0 0 1 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
g0195 0/0 1 0 0 0 0 1 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
g0196 0/0 1 0 1 0 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
g0197 1/0 1 0 0 0 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
g0198 0/0 1 0 1 0 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
g0199 0/0 1 0 0 0 1 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
g0200 0/0 1 0 1 0 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
g0201 0/0 1 0 1 0 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
g0202 0/0 1 1 0 0 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
g0203 0/0 1 1 0 0 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
g0204 0/0 1 1 0 0 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
g0205 0/0 1 1 0 0 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
g0206 0/0 1 0 0 1 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
g0207 0/0 1 0 0 1 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
g0208 0/0 1 1 0 0 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
g0209 0/0 1 1 0 0 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
g0210 0/0 1 1 0 0 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
g0211 0/0 1 1 0 0 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
g0212 0/0 1 1 0 0 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
g0213 0/0 1 0 0 1 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
g0214 0/0 1 1 0 0 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
g0215 0/0 1 1 0 0 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
g0216 0/1 1 0 0 0 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
g0217 0/0 1 0 1 0 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
g0218 0/0 1 0 1 0 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
g0219 0/0 1 0 0 1 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
g0220 0/0 1 0 0 1 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
g0221 0/0 1 0 1 0 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
g0222 0/0 1 0 0 1 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081

achapid grch38/
chm13v2 		clen total AFR AMR EAS EUR SAS regionname genename cseq chr start end
a0001c0001 1/0 1122 103 35 25 31 3 8 ASMT_chrX_1610059_1648081 ASMT copy fasta chrX 1610059 1648081
a0001c0003 0/0 1122 31 4 3 21 0 3 ASMT_chrX_1610059_1648081 ASMT copy fasta chrX 1610059 1648081
a0002c0002 0/1 1122 71 15 18 26 5 6 ASMT_chrX_1610059_1648081 ASMT copy fasta chrX 1610059 1648081
a0002c0006 0/0 1122 2 0 0 1 0 1 ASMT_chrX_1610059_1648081 ASMT copy fasta chrX 1610059 1648081
a0002c0010 0/0 1122 1 1 0 0 0 0 ASMT_chrX_1610059_1648081 ASMT copy fasta chrX 1610059 1648081
a0003c0005 0/0 1122 2 2 0 0 0 0 ASMT_chrX_1610059_1648081 ASMT copy fasta chrX 1610059 1648081
a0003c0009 0/0 1122 1 1 0 0 0 0 ASMT_chrX_1610059_1648081 ASMT copy fasta chrX 1610059 1648081
a0004c0004 0/0 1122 2 0 0 1 0 1 ASMT_chrX_1610059_1648081 ASMT copy fasta chrX 1610059 1648081
a0005c0016 0/0 1122 1 1 0 0 0 0 ASMT_chrX_1610059_1648081 ASMT copy fasta chrX 1610059 1648081
a0006c0011 0/0 1122 1 1 0 0 0 0 ASMT_chrX_1610059_1648081 ASMT copy fasta chrX 1610059 1648081
a0007c0012 0/0 1099 1 0 0 1 0 0 ASMT_chrX_1610059_1648081 ASMT copy fasta chrX 1610059 1648081
a0008c0013 0/0 1123 1 0 0 1 0 0 ASMT_chrX_1610059_1648081 ASMT copy fasta chrX 1610059 1648081
a0009c0014 0/0 1122 1 0 0 0 0 1 ASMT_chrX_1610059_1648081 ASMT copy fasta chrX 1610059 1648081
a0010c0015 0/0 1121 1 0 0 1 0 0 ASMT_chrX_1610059_1648081 ASMT copy fasta chrX 1610059 1648081
a0011c0008 0/0 1121 1 0 0 1 0 0 ASMT_chrX_1610059_1648081 ASMT copy fasta chrX 1610059 1648081
a0012c0007 0/0 1123 1 0 0 1 0 0 ASMT_chrX_1610059_1648081 ASMT copy fasta chrX 1610059 1648081
a0013c0017 0/0 1123 1 0 0 1 0 0 ASMT_chrX_1610059_1648081 ASMT copy fasta chrX 1610059 1648081
a0014c0018 0/0 1121 1 0 0 1 0 0 ASMT_chrX_1610059_1648081 ASMT copy fasta chrX 1610059 1648081

acthapid grch38
chm13v2 		tlen total AFR AMR EAS EUR SAS regionname genename tseq chr start end
a0001c0001t0001 0/0 1330 72 28 14 25 3 2 ASMT_chrX_1610059_1648081 ASMT copy fasta chrX 1610059 1648081
a0001c0001t0002 1/0 1330 29 6 10 6 0 6 ASMT_chrX_1610059_1648081 ASMT copy fasta chrX 1610059 1648081
a0001c0001t0003 0/0 1330 1 1 0 0 0 0 ASMT_chrX_1610059_1648081 ASMT copy fasta chrX 1610059 1648081
a0001c0001t0005 0/0 1330 1 0 1 0 0 0 ASMT_chrX_1610059_1648081 ASMT copy fasta chrX 1610059 1648081
a0001c0003t0001 0/0 1330 23 3 2 16 0 2 ASMT_chrX_1610059_1648081 ASMT copy fasta chrX 1610059 1648081
a0001c0003t0002 0/0 1330 8 1 1 5 0 1 ASMT_chrX_1610059_1648081 ASMT copy fasta chrX 1610059 1648081
a0002c0002t0001 0/0 1330 46 11 13 15 2 5 ASMT_chrX_1610059_1648081 ASMT copy fasta chrX 1610059 1648081
a0002c0002t0002 0/1 1330 25 4 5 11 3 1 ASMT_chrX_1610059_1648081 ASMT copy fasta chrX 1610059 1648081
a0002c0006t0001 0/0 1330 2 0 0 1 0 1 ASMT_chrX_1610059_1648081 ASMT copy fasta chrX 1610059 1648081
a0002c0010t0001 0/0 1330 1 1 0 0 0 0 ASMT_chrX_1610059_1648081 ASMT copy fasta chrX 1610059 1648081
a0003c0005t0001 0/0 1330 2 2 0 0 0 0 ASMT_chrX_1610059_1648081 ASMT copy fasta chrX 1610059 1648081
a0003c0009t0001 0/0 1330 1 1 0 0 0 0 ASMT_chrX_1610059_1648081 ASMT copy fasta chrX 1610059 1648081
a0004c0004t0001 0/0 1330 1 0 0 1 0 0 ASMT_chrX_1610059_1648081 ASMT copy fasta chrX 1610059 1648081
a0004c0004t0004 0/0 1330 1 0 0 0 0 1 ASMT_chrX_1610059_1648081 ASMT copy fasta chrX 1610059 1648081
a0005c0016t0001 0/0 1330 1 1 0 0 0 0 ASMT_chrX_1610059_1648081 ASMT copy fasta chrX 1610059 1648081
a0006c0011t0001 0/0 1330 1 1 0 0 0 0 ASMT_chrX_1610059_1648081 ASMT copy fasta chrX 1610059 1648081
a0007c0012t0001 0/0 1307 1 0 0 1 0 0 ASMT_chrX_1610059_1648081 ASMT copy fasta chrX 1610059 1648081
a0008c0013t0001 0/0 1331 1 0 0 1 0 0 ASMT_chrX_1610059_1648081 ASMT copy fasta chrX 1610059 1648081
a0009c0014t0002 0/0 1330 1 0 0 0 0 1 ASMT_chrX_1610059_1648081 ASMT copy fasta chrX 1610059 1648081
a0010c0015t0002 0/0 1329 1 0 0 1 0 0 ASMT_chrX_1610059_1648081 ASMT copy fasta chrX 1610059 1648081
a0011c0008t0001 0/0 1329 1 0 0 1 0 0 ASMT_chrX_1610059_1648081 ASMT copy fasta chrX 1610059 1648081
a0012c0007t0001 0/0 1331 1 0 0 1 0 0 ASMT_chrX_1610059_1648081 ASMT copy fasta chrX 1610059 1648081
a0013c0017t0001 0/0 1331 1 0 0 1 0 0 ASMT_chrX_1610059_1648081 ASMT copy fasta chrX 1610059 1648081
a0014c0018t0001 0/0 1329 1 0 0 1 0 0 ASMT_chrX_1610059_1648081 ASMT copy fasta chrX 1610059 1648081

actghapid grch38/
chm13v2 		total AFR AMR EAS EUR SAS regionname genename chr start end
a0001c0001t0001g0001 0/0 2 2 0 0 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
a0001c0001t0001g0005 0/0 1 0 0 1 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
a0001c0001t0001g0006 0/0 1 1 0 0 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
a0001c0001t0001g0007 0/0 1 1 0 0 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
a0001c0001t0001g0008 0/0 1 1 0 0 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
a0001c0001t0001g0012 0/0 1 1 0 0 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
a0001c0001t0001g0014 0/0 1 1 0 0 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
a0001c0001t0001g0016 0/0 1 1 0 0 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
a0001c0001t0001g0017 0/0 1 0 1 0 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
a0001c0001t0001g0019 0/0 1 1 0 0 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
a0001c0001t0001g0021 0/0 1 1 0 0 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
a0001c0001t0001g0024 0/0 1 0 0 0 0 1 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
a0001c0001t0001g0025 0/0 1 0 0 0 0 1 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
a0001c0001t0001g0027 0/0 1 0 1 0 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
a0001c0001t0001g0028 0/0 1 0 0 1 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
a0001c0001t0001g0029 0/0 1 0 0 1 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
a0001c0001t0001g0035 0/0 1 0 1 0 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
a0001c0001t0001g0037 0/0 1 0 1 0 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
a0001c0001t0001g0040 0/0 1 0 0 0 1 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
a0001c0001t0001g0041 0/0 1 0 0 1 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
a0001c0001t0001g0043 0/0 1 1 0 0 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
a0001c0001t0001g0046 0/0 1 1 0 0 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
a0001c0001t0001g0047 0/0 1 0 1 0 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
a0001c0001t0001g0048 0/0 1 0 1 0 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
a0001c0001t0001g0049 0/0 1 0 0 1 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
a0001c0001t0001g0053 0/0 1 0 1 0 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
a0001c0001t0001g0056 0/0 1 0 0 0 1 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
a0001c0001t0001g0058 0/0 1 0 0 1 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
a0001c0001t0001g0061 0/0 1 0 1 0 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
a0001c0001t0001g0063 0/0 1 0 1 0 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
a0001c0001t0001g0064 0/0 1 0 1 0 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
a0001c0001t0001g0065 0/0 1 0 0 1 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
a0001c0001t0001g0067 0/0 1 0 0 0 1 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
a0001c0001t0001g0068 0/0 1 0 1 0 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
a0001c0001t0001g0071 0/0 1 1 0 0 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
a0001c0001t0001g0072 0/0 1 1 0 0 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
a0001c0001t0001g0076 0/0 1 0 1 0 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
a0001c0001t0001g0077 0/0 1 0 0 1 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
a0001c0001t0001g0079 0/0 1 0 0 1 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
a0001c0001t0001g0081 0/0 1 0 0 1 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
a0001c0001t0001g0082 0/0 1 0 1 0 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
a0001c0001t0001g0083 0/0 1 1 0 0 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
a0001c0001t0001g0084 0/0 1 0 0 1 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
a0001c0001t0001g0086 0/0 1 0 0 1 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
a0001c0001t0001g0097 0/0 1 0 0 1 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
a0001c0001t0001g0100 0/0 1 0 0 1 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
a0001c0001t0001g0102 0/0 1 0 0 1 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
a0001c0001t0001g0103 0/0 1 0 0 1 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
a0001c0001t0001g0105 0/0 1 0 0 1 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
a0001c0001t0001g0106 0/0 1 0 0 1 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
a0001c0001t0001g0110 0/0 1 0 0 1 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
a0001c0001t0001g0114 0/0 1 0 0 1 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
a0001c0001t0001g0118 0/0 1 1 0 0 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
a0001c0001t0001g0121 0/0 1 1 0 0 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
a0001c0001t0001g0123 0/0 1 1 0 0 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
a0001c0001t0001g0128 0/0 1 0 1 0 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
a0001c0001t0001g0137 0/0 1 0 0 1 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
a0001c0001t0001g0138 0/0 1 1 0 0 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
a0001c0001t0001g0158 0/0 1 1 0 0 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
a0001c0001t0001g0174 0/0 1 0 0 1 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
a0001c0001t0001g0192 0/0 1 0 0 1 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
a0001c0001t0001g0194 0/0 1 0 0 1 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
a0001c0001t0001g0203 0/0 1 1 0 0 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
a0001c0001t0001g0204 0/0 1 1 0 0 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
a0001c0001t0001g0205 0/0 1 1 0 0 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
a0001c0001t0001g0206 0/0 1 0 0 1 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
a0001c0001t0001g0209 0/0 1 1 0 0 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
a0001c0001t0001g0211 0/0 1 1 0 0 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
a0001c0001t0001g0212 0/0 1 1 0 0 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
a0001c0001t0001g0214 0/0 1 1 0 0 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
a0001c0001t0001g0215 0/0 1 1 0 0 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
a0001c0001t0002g0039 0/0 1 0 0 1 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
a0001c0001t0002g0120 0/0 1 0 0 0 0 1 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
a0001c0001t0002g0132 0/0 1 0 0 0 0 1 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
a0001c0001t0002g0134 0/0 1 1 0 0 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
a0001c0001t0002g0135 0/0 1 1 0 0 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
a0001c0001t0002g0140 0/0 1 0 1 0 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
a0001c0001t0002g0141 0/0 1 0 0 0 0 1 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
a0001c0001t0002g0143 0/0 1 0 1 0 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
a0001c0001t0002g0144 0/0 1 1 0 0 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
a0001c0001t0002g0145 0/0 1 1 0 0 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
a0001c0001t0002g0147 0/0 1 0 0 1 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
a0001c0001t0002g0152 0/0 1 0 0 0 0 1 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
a0001c0001t0002g0153 0/0 1 0 1 0 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
a0001c0001t0002g0157 0/0 1 0 1 0 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
a0001c0001t0002g0161 0/0 1 0 0 1 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
a0001c0001t0002g0164 0/0 1 0 0 0 0 1 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
a0001c0001t0002g0167 0/0 1 0 0 1 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
a0001c0001t0002g0168 0/0 1 0 1 0 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
a0001c0001t0002g0170 0/0 1 0 0 1 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
a0001c0001t0002g0176 0/0 1 0 0 1 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
a0001c0001t0002g0180 0/0 1 0 1 0 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
a0001c0001t0002g0184 0/0 1 1 0 0 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
a0001c0001t0002g0190 0/0 1 1 0 0 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
a0001c0001t0002g0195 0/0 1 0 0 0 0 1 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
a0001c0001t0002g0196 0/0 1 0 1 0 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
a0001c0001t0002g0197 1/0 1 0 0 0 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
a0001c0001t0002g0200 0/0 1 0 1 0 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
a0001c0001t0002g0201 0/0 1 0 1 0 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
a0001c0001t0002g0218 0/0 1 0 1 0 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
a0001c0001t0003g0090 0/0 1 1 0 0 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
a0001c0001t0005g0165 0/0 1 0 1 0 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
a0001c0003t0001g0013 0/0 1 0 0 1 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
a0001c0003t0001g0022 0/0 1 1 0 0 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
a0001c0003t0001g0023 0/0 1 0 1 0 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
a0001c0003t0001g0030 0/0 1 0 0 1 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
a0001c0003t0001g0032 0/0 1 0 0 1 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
a0001c0003t0001g0033 0/0 1 0 0 1 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
a0001c0003t0001g0038 0/0 1 0 0 1 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
a0001c0003t0001g0050 0/0 1 0 0 0 0 1 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
a0001c0003t0001g0051 0/0 1 0 0 1 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
a0001c0003t0001g0059 0/0 1 0 0 1 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
a0001c0003t0001g0062 0/0 1 0 1 0 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
a0001c0003t0001g0070 0/0 1 1 0 0 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
a0001c0003t0001g0080 0/0 1 0 0 1 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
a0001c0003t0001g0091 0/0 1 0 0 1 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
a0001c0003t0001g0092 0/0 1 0 0 1 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
a0001c0003t0001g0093 0/0 1 0 0 1 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
a0001c0003t0001g0094 0/0 1 0 0 0 0 1 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
a0001c0003t0001g0107 0/0 1 0 0 1 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
a0001c0003t0001g0113 0/0 1 0 0 1 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
a0001c0003t0001g0115 0/0 1 0 0 1 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
a0001c0003t0001g0171 0/0 1 1 0 0 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
a0001c0003t0001g0193 0/0 1 0 0 1 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
a0001c0003t0001g0219 0/0 1 0 0 1 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
a0001c0003t0002g0133 0/0 1 1 0 0 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
a0001c0003t0002g0142 0/0 1 0 0 0 0 1 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
a0001c0003t0002g0149 0/0 1 0 0 1 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
a0001c0003t0002g0150 0/0 1 0 0 1 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
a0001c0003t0002g0155 0/0 1 0 0 1 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
a0001c0003t0002g0173 0/0 1 0 0 1 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
a0001c0003t0002g0177 0/0 1 0 1 0 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
a0001c0003t0002g0182 0/0 1 0 0 1 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
a0002c0002t0001g0002 0/0 1 1 0 0 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
a0002c0002t0001g0003 0/0 1 0 0 1 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
a0002c0002t0001g0009 0/0 1 1 0 0 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
a0002c0002t0001g0015 0/0 1 1 0 0 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
a0002c0002t0001g0018 0/0 1 0 0 0 0 1 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
a0002c0002t0001g0020 0/0 1 1 0 0 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
a0002c0002t0001g0026 0/0 1 0 1 0 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
a0002c0002t0001g0031 0/0 1 0 1 0 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
a0002c0002t0001g0042 0/0 1 0 0 1 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
a0002c0002t0001g0044 0/0 1 0 1 0 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
a0002c0002t0001g0052 0/0 1 0 0 1 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
a0002c0002t0001g0054 0/0 1 0 0 1 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
a0002c0002t0001g0055 0/0 1 0 0 1 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
a0002c0002t0001g0057 0/0 1 0 1 0 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
a0002c0002t0001g0066 0/0 1 0 0 0 0 1 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
a0002c0002t0001g0069 0/0 1 1 0 0 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
a0002c0002t0001g0073 0/0 1 0 0 1 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
a0002c0002t0001g0074 0/0 1 1 0 0 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
a0002c0002t0001g0078 0/0 1 0 0 0 0 1 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
a0002c0002t0001g0085 0/0 1 0 0 1 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
a0002c0002t0001g0087 0/0 1 0 1 0 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
a0002c0002t0001g0088 0/0 1 0 1 0 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
a0002c0002t0001g0089 0/0 1 0 1 0 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
a0002c0002t0001g0095 0/0 1 0 0 1 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
a0002c0002t0001g0098 0/0 1 0 1 0 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
a0002c0002t0001g0099 0/0 1 0 0 1 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
a0002c0002t0001g0108 0/0 1 0 0 1 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
a0002c0002t0001g0116 0/0 1 0 0 0 1 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
a0002c0002t0001g0117 0/0 1 0 0 0 1 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
a0002c0002t0001g0119 0/0 1 0 1 0 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
a0002c0002t0001g0122 0/0 1 1 0 0 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
a0002c0002t0001g0124 0/0 1 0 1 0 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
a0002c0002t0001g0125 0/0 1 0 1 0 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
a0002c0002t0001g0126 0/0 1 0 0 0 0 1 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
a0002c0002t0001g0127 0/0 1 0 1 0 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
a0002c0002t0001g0129 0/0 1 0 0 0 0 1 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
a0002c0002t0001g0130 0/0 1 0 0 1 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
a0002c0002t0001g0151 0/0 1 0 0 1 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
a0002c0002t0001g0175 0/0 1 1 0 0 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
a0002c0002t0001g0185 0/0 1 0 0 1 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
a0002c0002t0001g0189 0/0 1 1 0 0 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
a0002c0002t0001g0208 0/0 1 1 0 0 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
a0002c0002t0001g0210 0/0 1 1 0 0 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
a0002c0002t0001g0220 0/0 1 0 0 1 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
a0002c0002t0001g0221 0/0 1 0 1 0 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
a0002c0002t0001g0222 0/0 1 0 0 1 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
a0002c0002t0002g0096 0/0 1 0 0 1 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
a0002c0002t0002g0112 0/0 1 0 0 1 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
a0002c0002t0002g0131 0/0 1 0 0 1 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
a0002c0002t0002g0136 0/0 1 1 0 0 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
a0002c0002t0002g0146 0/0 1 0 1 0 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
a0002c0002t0002g0154 0/0 1 0 1 0 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
a0002c0002t0002g0156 0/0 1 0 0 1 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
a0002c0002t0002g0159 0/0 1 1 0 0 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
a0002c0002t0002g0160 0/0 1 1 0 0 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
a0002c0002t0002g0162 0/0 1 0 0 1 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
a0002c0002t0002g0163 0/0 1 0 0 1 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
a0002c0002t0002g0166 0/0 1 0 0 1 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
a0002c0002t0002g0172 0/0 1 0 0 1 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
a0002c0002t0002g0178 0/0 1 0 1 0 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
a0002c0002t0002g0181 0/0 1 0 0 0 1 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
a0002c0002t0002g0183 0/0 1 1 0 0 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
a0002c0002t0002g0186 0/0 1 0 0 1 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
a0002c0002t0002g0188 0/0 1 0 0 0 0 1 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
a0002c0002t0002g0191 0/0 1 0 0 0 1 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
a0002c0002t0002g0198 0/0 1 0 1 0 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
a0002c0002t0002g0199 0/0 1 0 0 0 1 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
a0002c0002t0002g0207 0/0 1 0 0 1 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
a0002c0002t0002g0213 0/0 1 0 0 1 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
a0002c0002t0002g0216 0/1 1 0 0 0 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
a0002c0002t0002g0217 0/0 1 0 1 0 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
a0002c0006t0001g0104 0/0 1 0 0 0 0 1 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
a0002c0006t0001g0187 0/0 1 0 0 1 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
a0002c0010t0001g0010 0/0 1 1 0 0 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
a0003c0005t0001g0004 0/0 1 1 0 0 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
a0003c0005t0001g0202 0/0 1 1 0 0 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
a0003c0009t0001g0011 0/0 1 1 0 0 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
a0004c0004t0001g0169 0/0 1 0 0 1 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
a0004c0004t0004g0148 0/0 1 0 0 0 0 1 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
a0005c0016t0001g0045 0/0 1 1 0 0 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
a0006c0011t0001g0139 0/0 1 1 0 0 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
a0007c0012t0001g0109 0/0 1 0 0 1 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
a0008c0013t0001g0101 0/0 1 0 0 1 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
a0009c0014t0002g0075 0/0 1 0 0 0 0 1 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
a0010c0015t0002g0179 0/0 1 0 0 1 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
a0011c0008t0001g0034 0/0 1 0 0 1 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
a0012c0007t0001g0036 0/0 1 0 0 1 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
a0013c0017t0001g0111 0/0 1 0 0 1 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
a0014c0018t0001g0060 0/0 1 0 0 1 0 0 ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081

sampleid ID
haplotypeid
 ahapid chapid thapid ghapid gpopname popname regionname genename chr start end
HG00099 hp1 a0001 c0001 t0001 g0040 EUR GBR ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
HG00099 hp2 a0002 c0002 t0002 g0181 EUR GBR ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
HG00323 hp1 a0001 c0001 t0001 g0056 EUR FIN ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
HG00323 hp2 a0001 c0001 t0001 g0067 EUR FIN ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
HG00423 hp1 a0002 c0002 t0002 g0156 EAS CHS ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
HG00423 hp2 a0001 c0003 t0002 g0173 EAS CHS ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
HG00438 hp1 a0002 c0002 t0002 g0162 EAS CHS ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
HG00438 hp2 a0001 c0003 t0002 g0149 EAS CHS ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
HG00544 hp1 a0001 c0001 t0001 g0114 EAS CHS ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
HG00544 hp2 a0002 c0006 t0001 g0187 EAS CHS ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
HG00597 hp1 a0002 c0002 t0002 g0163 EAS CHS ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
HG00597 hp2 a0001 c0003 t0001 g0091 EAS CHS ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
HG00639 hp1 a0001 c0001 t0002 g0168 AMR PUR ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
HG00639 hp2 a0002 c0002 t0002 g0154 AMR PUR ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
HG00733 hp1 a0002 c0002 t0001 g0089 AMR PUR ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
HG00733 hp2 a0002 c0002 t0001 g0125 AMR PUR ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
HG00735 hp1 a0001 c0001 t0001 g0076 AMR PUR ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
HG00735 hp2 a0001 c0001 t0002 g0157 AMR PUR ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
HG00741 hp1 a0001 c0001 t0002 g0218 AMR PUR ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
HG00741 hp2 a0001 c0001 t0001 g0017 AMR PUR ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
HG01070 hp1 a0001 c0001 t0001 g0047 AMR PUR ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
HG01070 hp2 a0002 c0002 t0001 g0221 AMR PUR ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
HG01071 hp1 a0001 c0001 t0001 g0048 AMR PUR ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
HG01071 hp2 a0001 c0001 t0002 g0143 AMR PUR ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
HG01081 hp1 a0002 c0002 t0001 g0088 AMR PUR ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
HG01081 hp2 a0001 c0001 t0001 g0063 AMR PUR ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
HG01168 hp1 a0002 c0002 t0001 g0087 AMR PUR ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
HG01168 hp2 a0002 c0002 t0001 g0119 AMR PUR ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
HG01175 hp1 a0001 c0003 t0001 g0023 AMR PUR ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
HG01175 hp2 a0002 c0002 t0002 g0217 AMR PUR ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
HG01256 hp1 a0002 c0002 t0001 g0044 AMR CLM ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
HG01257 hp1 a0001 c0001 t0001 g0053 AMR CLM ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
HG01257 hp2 a0001 c0001 t0001 g0082 AMR CLM ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
HG01346 hp1 a0002 c0002 t0001 g0098 AMR CLM ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
HG01346 hp2 a0001 c0001 t0001 g0068 AMR CLM ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
HG01361 hp1 a0002 c0002 t0001 g0124 AMR CLM ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
HG01361 hp2 a0002 c0002 t0001 g0057 AMR CLM ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
HG01496 hp1 a0001 c0001 t0002 g0201 AMR CLM ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
HG01496 hp2 a0001 c0001 t0002 g0153 AMR CLM ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
HG01516 hp1 a0002 c0002 t0001 g0116 EUR IBS ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
HG01516 hp2 a0002 c0002 t0002 g0199 EUR IBS ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
HG01517 hp1 a0002 c0002 t0001 g0117 EUR IBS ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
HG01517 hp2 a0002 c0002 t0002 g0191 EUR IBS ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
HG01884 hp1 a0001 c0001 t0001 g0215 AFR ACB ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
HG01884 hp2 a0001 c0003 t0001 g0070 AFR ACB ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
HG01891 hp1 a0002 c0002 t0001 g0069 AFR ACB ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
HG01891 hp2 a0001 c0001 t0001 g0212 AFR ACB ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
HG01934 hp1 a0001 c0003 t0002 g0177 AMR PEL ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
HG01975 hp1 a0001 c0003 t0001 g0062 AMR PEL ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
HG01975 hp2 a0001 c0001 t0001 g0128 AMR PEL ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
HG01978 hp1 a0001 c0001 t0001 g0027 AMR PEL ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
HG01978 hp2 a0002 c0002 t0002 g0178 AMR PEL ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
HG01981 hp1 a0001 c0001 t0001 g0061 AMR PEL ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
HG01981 hp2 a0001 c0001 t0001 g0037 AMR PEL ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
HG01993 hp1 a0001 c0001 t0002 g0140 AMR PEL ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
HG01993 hp2 a0001 c0001 t0002 g0200 AMR PEL ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
HG02004 hp1 a0002 c0002 t0001 g0031 AMR PEL ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
HG02004 hp2 a0002 c0002 t0002 g0146 AMR PEL ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
HG02080 hp1 a0002 c0002 t0002 g0166 EAS KHV ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
HG02080 hp2 a0004 c0004 t0001 g0169 EAS KHV ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
HG02148 hp1 a0001 c0001 t0002 g0180 AMR PEL ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
HG02148 hp2 a0001 c0001 t0001 g0064 AMR PEL ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
HG02155 hp1 a0001 c0003 t0001 g0107 EAS CDX ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
HG02155 hp2 a0002 c0002 t0001 g0095 EAS CDX ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
HG02165 hp1 a0001 c0001 t0002 g0039 EAS CDX ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
HG02165 hp2 a0001 c0001 t0001 g0110 EAS CDX ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
HG02257 hp1 a0001 c0001 t0001 g0012 AFR ACB ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
HG02257 hp2 a0001 c0001 t0001 g0083 AFR ACB ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
HG02273 hp1 a0001 c0001 t0005 g0165 AMR PEL ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
HG02273 hp2 a0002 c0002 t0001 g0026 AMR PEL ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
HG02280 hp1 a0002 c0002 t0001 g0020 AFR ACB ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
HG02280 hp2 a0001 c0001 t0002 g0184 AFR ACB ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
HG02293 hp1 a0001 c0001 t0001 g0035 AMR PEL ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
HG02293 hp2 a0002 c0002 t0001 g0127 AMR PEL ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
HG02451 hp1 a0001 c0001 t0001 g0138 AFR ACB ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
HG02451 hp2 a0001 c0001 t0001 g0203 AFR ACB ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
HG02523 hp1 a0013 c0017 t0001 g0111 EAS KHV ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
HG02523 hp2 a0011 c0008 t0001 g0034 EAS KHV ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
HG02602 hp2 a0001 c0001 t0002 g0164 SAS PJL ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
HG02615 hp1 a0001 c0001 t0002 g0134 AFR GWD ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
HG02615 hp2 a0001 c0001 t0002 g0135 AFR GWD ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
HG02622 hp1 a0001 c0001 t0001 g0214 AFR GWD ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
HG02622 hp2 a0002 c0010 t0001 g0010 AFR GWD ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
HG02630 hp1 a0001 c0001 t0001 g0204 AFR GWD ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
HG02630 hp2 a0001 c0001 t0001 g0007 AFR GWD ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
HG02683 hp1 a0001 c0001 t0002 g0132 SAS PJL ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
HG02683 hp2 a0009 c0014 t0002 g0075 SAS PJL ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
HG02723 hp1 a0001 c0001 t0001 g0205 AFR GWD ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
HG02723 hp2 a0001 c0001 t0002 g0190 AFR GWD ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
HG02809 hp1 a0001 c0001 t0001 g0123 AFR GWD ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
HG02809 hp2 a0001 c0001 t0001 g0209 AFR GWD ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
HG02818 hp1 a0001 c0001 t0001 g0046 AFR GWD ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
HG02818 hp2 a0001 c0001 t0003 g0090 AFR GWD ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
HG02886 hp1 a0002 c0002 t0001 g0009 AFR GWD ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
HG02886 hp2 a0002 c0002 t0001 g0189 AFR GWD ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
HG02896 hp1 a0001 c0001 t0001 g0211 AFR GWD ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
HG02896 hp2 a0002 c0002 t0001 g0015 AFR GWD ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
HG02922 hp1 a0003 c0005 t0001 g0202 AFR ESN ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
HG02922 hp2 a0001 c0001 t0001 g0016 AFR ESN ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
HG02976 hp1 a0002 c0002 t0001 g0210 AFR ESN ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
HG02976 hp2 a0001 c0001 t0001 g0043 AFR ESN ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
HG03041 hp1 a0001 c0001 t0001 g0071 AFR GWD ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
HG03041 hp2 a0001 c0001 t0001 g0121 AFR GWD ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
HG03195 hp1 a0001 c0001 t0001 g0021 AFR ESN ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
HG03195 hp2 a0001 c0001 t0001 g0158 AFR ESN ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
HG03239 hp1 a0002 c0002 t0001 g0129 SAS PJL ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
HG03239 hp2 a0002 c0002 t0001 g0126 SAS PJL ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
HG03453 hp1 a0002 c0002 t0001 g0002 AFR MSL ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
HG03453 hp2 a0001 c0001 t0001 g0072 AFR MSL ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
HG03486 hp1 a0002 c0002 t0002 g0136 AFR MSL ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
HG03486 hp2 a0001 c0003 t0002 g0133 AFR MSL ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
HG03491 hp1 a0001 c0003 t0002 g0142 SAS PJL ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
HG03491 hp2 a0001 c0001 t0002 g0141 SAS PJL ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
HG03516 hp1 a0002 c0002 t0002 g0159 AFR ESN ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
HG03516 hp2 a0002 c0002 t0002 g0160 AFR ESN ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
HG03540 hp1 a0001 c0001 t0001 g0006 AFR GWD ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
HG03540 hp2 a0002 c0002 t0001 g0122 AFR GWD ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
HG03669 hp1 a0002 c0002 t0002 g0188 SAS PJL ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
HG03669 hp2 a0002 c0006 t0001 g0104 SAS PJL ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
HG03704 hp1 a0001 c0001 t0002 g0152 SAS PJL ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
HG03704 hp2 a0001 c0001 t0002 g0195 SAS PJL ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
HG03831 hp1 a0001 c0001 t0001 g0024 SAS BEB ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
HG03831 hp2 a0004 c0004 t0004 g0148 SAS BEB ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
HG03834 hp1 a0002 c0002 t0001 g0018 SAS BEB ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
HG03834 hp2 a0001 c0001 t0001 g0025 SAS BEB ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
HG03927 hp1 a0002 c0002 t0001 g0078 SAS BEB ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
HG03927 hp2 a0001 c0001 t0002 g0120 SAS BEB ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
HG04184 hp1 a0001 c0003 t0001 g0094 SAS BEB ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
HG04184 hp2 a0001 c0003 t0001 g0050 SAS BEB ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
HG04204 hp2 a0002 c0002 t0001 g0066 SAS STU ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
NA18906 hp1 a0001 c0003 t0001 g0022 AFR YRI ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
NA18906 hp2 a0001 c0001 t0002 g0144 AFR YRI ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
NA18939 hp1 a0008 c0013 t0001 g0101 EAS JPT ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
NA18939 hp2 a0002 c0002 t0001 g0222 EAS JPT ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
NA18941 hp1 a0002 c0002 t0002 g0112 EAS JPT ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
NA18941 hp2 a0001 c0003 t0001 g0115 EAS JPT ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
NA18942 hp1 a0002 c0002 t0001 g0055 EAS JPT ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
NA18942 hp2 a0002 c0002 t0001 g0042 EAS JPT ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
NA18947 hp1 a0001 c0003 t0001 g0030 EAS JPT ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
NA18947 hp2 a0002 c0002 t0001 g0085 EAS JPT ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
NA18949 hp1 a0001 c0001 t0001 g0137 EAS JPT ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
NA18949 hp2 a0002 c0002 t0001 g0130 EAS JPT ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
NA18950 hp1 a0001 c0001 t0001 g0086 EAS JPT ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
NA18950 hp2 a0001 c0003 t0001 g0219 EAS JPT ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
NA18951 hp1 a0001 c0001 t0001 g0206 EAS JPT ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
NA18951 hp2 a0001 c0001 t0001 g0192 EAS JPT ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
NA18954 hp1 a0001 c0001 t0002 g0147 EAS JPT ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
NA18954 hp2 a0002 c0002 t0001 g0151 EAS JPT ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
NA18956 hp1 a0001 c0003 t0001 g0113 EAS JPT ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
NA18956 hp2 a0001 c0001 t0001 g0102 EAS JPT ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
NA18963 hp1 a0007 c0012 t0001 g0109 EAS JPT ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
NA18963 hp2 a0001 c0003 t0001 g0051 EAS JPT ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
NA18968 hp1 a0002 c0002 t0002 g0186 EAS JPT ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
NA18968 hp2 a0001 c0003 t0001 g0059 EAS JPT ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
NA18969 hp1 a0001 c0003 t0001 g0033 EAS JPT ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
NA18969 hp2 a0001 c0001 t0002 g0176 EAS JPT ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
NA18973 hp1 a0001 c0001 t0001 g0041 EAS JPT ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
NA18973 hp2 a0001 c0001 t0001 g0105 EAS JPT ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
NA18974 hp1 a0002 c0002 t0001 g0054 EAS JPT ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
NA18975 hp1 a0002 c0002 t0002 g0096 EAS JPT ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
NA18975 hp2 a0001 c0001 t0002 g0167 EAS JPT ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
NA18977 hp2 a0001 c0003 t0002 g0155 EAS JPT ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
NA18980 hp1 a0001 c0003 t0001 g0032 EAS JPT ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
NA18980 hp2 a0001 c0001 t0001 g0005 EAS JPT ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
NA18981 hp1 a0002 c0002 t0002 g0213 EAS JPT ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
NA18981 hp2 a0001 c0001 t0001 g0058 EAS JPT ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
NA18985 hp1 a0001 c0003 t0002 g0182 EAS JPT ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
NA18986 hp2 a0001 c0003 t0001 g0093 EAS JPT ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
NA18988 hp1 a0014 c0018 t0001 g0060 EAS JPT ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
NA18992 hp1 a0001 c0001 t0001 g0081 EAS JPT ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
NA18992 hp2 a0001 c0003 t0001 g0092 EAS JPT ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
NA18998 hp1 a0001 c0001 t0002 g0170 EAS JPT ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
NA18998 hp2 a0001 c0001 t0001 g0174 EAS JPT ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
NA18999 hp1 a0001 c0001 t0001 g0028 EAS JPT ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
NA18999 hp2 a0002 c0002 t0002 g0207 EAS JPT ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
NA19002 hp1 a0001 c0001 t0001 g0194 EAS JPT ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
NA19002 hp2 a0001 c0001 t0001 g0029 EAS JPT ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
NA19003 hp1 a0002 c0002 t0001 g0073 EAS JPT ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
NA19003 hp2 a0002 c0002 t0001 g0003 EAS JPT ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
NA19010 hp1 a0001 c0001 t0001 g0103 EAS JPT ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
NA19010 hp2 a0001 c0003 t0002 g0150 EAS JPT ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
NA19011 hp1 a0001 c0001 t0001 g0065 EAS JPT ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
NA19011 hp2 a0001 c0003 t0001 g0193 EAS JPT ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
NA19030 hp1 a0005 c0016 t0001 g0045 AFR LWK ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
NA19030 hp2 a0003 c0009 t0001 g0011 AFR LWK ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
NA19057 hp1 a0002 c0002 t0002 g0172 EAS JPT ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
NA19057 hp2 a0001 c0001 t0002 g0161 EAS JPT ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
NA19062 hp1 a0002 c0002 t0001 g0052 EAS JPT ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
NA19064 hp1 a0002 c0002 t0002 g0131 EAS JPT ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
NA19064 hp2 a0001 c0001 t0001 g0097 EAS JPT ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
NA19065 hp1 a0001 c0003 t0001 g0080 EAS JPT ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
NA19065 hp2 a0001 c0003 t0001 g0038 EAS JPT ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
NA19072 hp2 a0010 c0015 t0002 g0179 EAS JPT ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
NA19074 hp1 a0002 c0002 t0001 g0185 EAS JPT ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
NA19074 hp2 a0001 c0001 t0001 g0100 EAS JPT ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
NA19077 hp1 a0002 c0002 t0001 g0220 EAS JPT ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
NA19077 hp2 a0002 c0002 t0001 g0099 EAS JPT ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
NA19080 hp1 a0001 c0001 t0001 g0049 EAS JPT ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
NA19080 hp2 a0002 c0002 t0001 g0108 EAS JPT ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
NA19081 hp1 a0001 c0001 t0001 g0077 EAS JPT ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
NA19081 hp2 a0001 c0001 t0001 g0084 EAS JPT ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
NA19082 hp1 a0012 c0007 t0001 g0036 EAS JPT ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
NA19085 hp1 a0001 c0003 t0001 g0013 EAS JPT ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
NA19091 hp1 a0001 c0001 t0001 g0106 EAS JPT ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
NA19240 hp1 a0001 c0001 t0001 g0001 AFR YRI ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
NA19240 hp2 a0002 c0002 t0001 g0175 AFR YRI ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
NA20129 hp1 a0001 c0001 t0001 g0008 AFR ASW ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
NA20129 hp2 a0002 c0002 t0002 g0183 AFR ASW ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
HG01123 hp1 a0001 c0001 t0002 g0196 AMR CLM ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
HG01123 hp2 a0002 c0002 t0002 g0198 AMR CLM ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
HG02109 hp1 a0002 c0002 t0001 g0208 AFR ACB ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
HG02109 hp2 a0001 c0001 t0001 g0118 AFR ACB ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
HG02559 hp1 a0001 c0001 t0001 g0001 AFR ACB ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
HG02559 hp2 a0006 c0011 t0001 g0139 AFR ACB ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
HG06807 hp1 a0001 c0001 t0001 g0014 AFR USA ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
HG06807 hp2 a0001 c0001 t0002 g0145 AFR USA ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
NA18955 hp1 a0001 c0001 t0001 g0079 EAS JPT ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
NA20300 hp1 a0001 c0001 t0001 g0019 AFR USA ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
NA20300 hp2 a0003 c0005 t0001 g0004 AFR USA ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
NA21309 hp1 a0002 c0002 t0001 g0074 AFR LWK ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
NA21309 hp2 a0001 c0003 t0001 g0171 AFR LWK ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
homoSapiens_chm13v2 hp1 a0002 c0002 t0002 g0216 REF REF ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081
homoSapiens_grch38 hp1 a0001 c0001 t0002 g0197 REF REF ASMT_chrX_1610059_1648081 ASMT chrX 1610059 1648081

chr:pos ref alt #
# of ahapid:amino-acid(protein) level
 ahapids #
# of haplotypeids
 haplotypeids annotation impact hgvs_c hgvs_p genename geneid featuretype featureid transcript_biotype rank cdna
cdna pos length
 cds
cds pos length
 aa
aa pos length
 distance status chr pos
chrX:1615250
C
C
 A
A
 1 a0004
a0004
 2 HG02080.hp2
HG03831.hp2
HG02080.hp2
HG03831.hp2
 missense_variant MODERATE c.51C>A
c.51C>A
 p.Asn17Lys
p.Asn17Lys
 ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/9 192/1330 51/1122 17/373 chrX 1615250
chrX:1623195
GC
GC
 G
G
 1 a0014
a0014
 1 NA18988.hp1
NA18988.hp1
 frameshift_variant HIGH c.130delC
c.130delC
 p.Leu44fs
p.Leu44fs
 ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 2/9 271/1330 130/1122 44/373 INFO_REALIGN_3_PRIME chrX 1623195
chrX:1623209
C
C
 CG
CG
 1 a0013
a0013
 1 HG02523.hp1
HG02523.hp1
 frameshift_variant HIGH c.142dupG
c.142dupG
 p.Ala48fs
p.Ala48fs
 ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 2/9 284/1330 143/1122 48/373 INFO_REALIGN_3_PRIME chrX 1623209
chrX:1623310
A
A
 G
G
 1 a0005
a0005
 1 NA19030.hp1
NA19030.hp1
 missense_variant MODERATE c.241A>G
c.241A>G
 p.Lys81Glu
p.Lys81Glu
 ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 2/9 382/1330 241/1122 81/373 chrX 1623310
chrX:1624388
G
G
 GA
GA
 1 a0012
a0012
 1 NA19082.hp1
NA19082.hp1
 frameshift_variant HIGH c.365dupA
c.365dupA
 p.Asp122fs
p.Asp122fs
 ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/9 507/1330 366/1122 122/373 INFO_REALIGN_3_PRIME chrX 1624388
chrX:1627752
CT
CT
 C
C
 1 a0011
a0011
 1 HG02523.hp2
HG02523.hp2
 frameshift_variant HIGH c.429delT
c.429delT
 p.Phe143fs
p.Phe143fs
 ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 4/9 570/1330 429/1122 143/373 INFO_REALIGN_3_PRIME chrX 1627752
chrX:1632709
T
T
 C
C
 8 a0002
a0003
a0004
others(5): Show 
a0002
a0003
a0004
a0005
a0006
a0007
a0011
a0012
 84 HG00099.hp2
HG00423.hp1
HG00438.hp1
others(81): Show 
HG00099.hp2
HG00423.hp1
HG00438.hp1
HG00544.hp2
HG00597.hp1
HG00639.hp2
HG00733.hp1
HG00733.hp2
HG01070.hp2
HG01081.hp1
HG01123.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp2
HG01256.hp1
HG01346.hp1
HG01361.hp1
HG01361.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01891.hp1
HG01978.hp2
HG02004.hp1
HG02004.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02155.hp2
HG02273.hp2
HG02280.hp1
HG02293.hp2
HG02523.hp2
HG02559.hp2
HG02622.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp2
HG02922.hp1
HG02976.hp1
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03486.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03669.hp1
HG03669.hp2
HG03831.hp2
HG03834.hp1
HG03927.hp1
HG04204.hp2
NA18939.hp2
NA18941.hp1
NA18942.hp1
NA18942.hp2
NA18947.hp2
NA18949.hp2
NA18954.hp2
NA18963.hp1
NA18968.hp1
NA18974.hp1
NA18975.hp1
NA18981.hp1
NA18999.hp2
NA19003.hp1
NA19003.hp2
NA19030.hp1
NA19030.hp2
NA19057.hp1
NA19062.hp1
NA19064.hp1
NA19074.hp1
NA19077.hp1
NA19077.hp2
NA19080.hp2
NA19082.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 missense_variant MODERATE c.568T>C
c.568T>C
 p.Trp190Arg
p.Trp190Arg
 ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 6/9 709/1330 568/1122 190/373 chrX 1632709
chrX:1632721
G
G
 GA
GA
 1 a0008
a0008
 1 NA18939.hp1
NA18939.hp1
 frameshift_variant HIGH c.583dupA
c.583dupA
 p.Thr195fs
p.Thr195fs
 ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 6/9 725/1330 584/1122 195/373 INFO_REALIGN_3_PRIME chrX 1632721
chrX:1632770
G
G
 A
A
 3 a0003
a0005
a0009
a0003
a0005
a0009
 5 HG02683.hp2
HG02922.hp1
NA19030.hp1
others(2): Show 
HG02683.hp2
HG02922.hp1
NA19030.hp1
NA19030.hp2
NA20300.hp2
 missense_variant MODERATE c.629G>A
c.629G>A
 p.Arg210His
p.Arg210His
 ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 6/9 770/1330 629/1122 210/373 chrX 1632770
chrX:1632770
G
G
 GT
GT
 1 a0008
a0008
 1 NA18939.hp1
NA18939.hp1
 frameshift_variant HIGH c.629_630insT
c.629_630insT
 p.Val211fs
p.Val211fs
 ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 6/9 771/1330 630/1122 210/373 chrX 1632770
chrX:1633209
G
G
 T
T
 1 a0008
a0008
 1 NA18939.hp1
NA18939.hp1
 missense_variant MODERATE c.706G>T
c.706G>T
 p.Val236Phe
p.Val236Phe
 ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 7/9 847/1330 706/1122 236/373 chrX 1633209
chrX:1633238
GGCAAAGC
others(16): Show 
GGCAAAGCAGCACTTCTCATTCCA
 G
G
 1 a0007
a0007
 1 NA18963.hp1
NA18963.hp1
 frameshift_variant HIGH c.737_759delCAAAGCAG
others(15): Show 
c.737_759delCAAAGCAGCACTTCTCATTCCAG
 p.Ala246fs
p.Ala246fs
 ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 7/9 878/1330 737/1122 246/373 INFO_REALIGN_3_PRIME chrX 1633238
chrX:1633256
AT
AT
 A
A
 1 a0008
a0008
 1 NA18939.hp1
NA18939.hp1
 frameshift_variant HIGH c.755delT
c.755delT
 p.Phe252fs
p.Phe252fs
 ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 7/9 896/1330 755/1122 252/373 INFO_REALIGN_3_PRIME chrX 1633256
chrX:1636536
AG
AG
 A
A
 1 a0010
a0010
 1 NA19072.hp2
NA19072.hp2
 frameshift_variant HIGH c.888delG
c.888delG
 p.Ile297fs
p.Ile297fs
 ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/9 1029/1330 888/1122 296/373 INFO_REALIGN_3_PRIME chrX 1636536
chrX:1636541
C
C
 G
G
 1 a0006
a0006
 1 HG02559.hp2
HG02559.hp2
 missense_variant MODERATE c.891C>G
c.891C>G
 p.Ile297Met
p.Ile297Met
 ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/9 1032/1330 891/1122 297/373 chrX 1636541

chr:pos ref alt #
# of chapid
 chapids #
# of haplotypeids
 haplotypeids annotation impact hgvs_c hgvs_p genename geneid featuretype featureid transcript_biotype rank cdna
cdna pos length
 cds
cds pos length
 aa
aa pos length
 distance status chr pos
chrX:1633208
C
C
 G
G
 1 a0008c0013
a0008c0013
 1 NA18939.hp1
NA18939.hp1
 synonymous_variant LOW c.705C>G
c.705C>G
 p.Thr235Thr
p.Thr235Thr
 ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 7/9 846/1330 705/1122 235/373 chrX 1633208
chrX:1633238
G
G
 A
A
 1 a0002c0010
a0002c0010
 1 HG02622.hp2
HG02622.hp2
 synonymous_variant LOW c.735G>A
c.735G>A
 p.Thr245Thr
p.Thr245Thr
 ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 7/9 876/1330 735/1122 245/373 chrX 1633238
chrX:1636511
C
C
 T
T
 5 a0001c0003
a0002c0006
a0003c0009
others(2): Show 
a0001c0003
a0002c0006
a0003c0009
a0010c0015
a0013c0017
 36 HG00423.hp2
HG00438.hp2
HG00544.hp2
others(33): Show 
HG00423.hp2
HG00438.hp2
HG00544.hp2
HG00597.hp2
HG01175.hp1
HG01884.hp2
HG01934.hp1
HG01975.hp1
HG02155.hp1
HG02523.hp1
HG03486.hp2
HG03491.hp1
HG03669.hp2
HG04184.hp1
HG04184.hp2
NA18906.hp1
NA18941.hp2
NA18947.hp1
NA18950.hp2
NA18956.hp1
NA18963.hp2
NA18968.hp2
NA18969.hp1
NA18977.hp2
NA18980.hp1
NA18985.hp1
NA18986.hp2
NA18992.hp2
NA19010.hp2
NA19011.hp2
NA19030.hp2
NA19065.hp1
NA19065.hp2
NA19072.hp2
NA19085.hp1
NA21309.hp2
 synonymous_variant LOW c.861C>T
c.861C>T
 p.Asp287Asp
p.Asp287Asp
 ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/9 1002/1330 861/1122 287/373 chrX 1636511

chr:pos ref alt #
# of thapid:transcript level
 thapids #
# of haplotypeids
 haplotypeids annotation impact hgvs_c hgvs_p genename geneid featuretype featureid transcript_biotype rank cdna
cdna pos length
 cds
cds pos length
 aa
aa pos length
 distance status chr pos
chrX:1615101
T
T
 C
C
 18 a0001c0001t0001
a0001c0001t0003
a0001c0003t0001
others(15): Show 
a0001c0001t0001
a0001c0001t0003
a0001c0003t0001
a0002c0002t0001
a0002c0006t0001
a0002c0010t0001
a0003c0005t0001
a0003c0009t0001
a0004c0004t0001
a0004c0004t0004
a0005c0016t0001
a0006c0011t0001
a0007c0012t0001
a0008c0013t0001
a0011c0008t0001
a0012c0007t0001
a0013c0017t0001
a0014c0018t0001
 158 HG00099.hp1
HG00323.hp1
HG00323.hp2
others(155): Show 
HG00099.hp1
HG00323.hp1
HG00323.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01081.hp1
HG01081.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01256.hp1
HG01257.hp1
HG01257.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01516.hp1
HG01517.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02273.hp2
HG02280.hp1
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02723.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03195.hp1
HG03195.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03540.hp1
HG03540.hp2
HG03669.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp2
HG06807.hp1
NA18906.hp1
NA18939.hp1
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18947.hp1
NA18947.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp2
NA18955.hp1
NA18956.hp1
NA18956.hp2
NA18963.hp1
NA18963.hp2
NA18968.hp2
NA18969.hp1
NA18973.hp1
NA18973.hp2
NA18974.hp1
NA18980.hp1
NA18980.hp2
NA18981.hp2
NA18986.hp2
NA18988.hp1
NA18992.hp1
NA18992.hp2
NA18998.hp2
NA18999.hp1
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19010.hp1
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19062.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19082.hp1
NA19085.hp1
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA21309.hp1
NA21309.hp2
 5_prime_UTR_variant MODIFIER c.-99T>C
c.-99T>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/9 99 chrX 1615101
chrX:1615107
C
C
 G
G
 1 a0004c0004t0004
a0004c0004t0004
 1 HG03831.hp2
HG03831.hp2
 5_prime_UTR_variant MODIFIER c.-93C>G
c.-93C>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/9 93 chrX 1615107
chrX:1615137
C
C
 G
G
 1 a0001c0001t0003
a0001c0001t0003
 1 HG02818.hp2
HG02818.hp2
 5_prime_UTR_variant MODIFIER c.-63C>G
c.-63C>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/9 63 chrX 1615137
chrX:1615158
C
C
 T
T
 1 a0001c0001t0005
a0001c0001t0005
 1 HG02273.hp1
HG02273.hp1
 5_prime_UTR_variant MODIFIER c.-42C>T
c.-42C>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/9 42 chrX 1615158

chr:pos ref alt #
# of ghapid:genebody level
 ghapids #
# of haplotypeids
 haplotypeids annotation impact hgvs_c hgvs_p genename geneid featuretype featureid genebody_biotype rank cdna
cdna pos length
 cds
cds pos length
 aa
aa pos length
 distance status chr pos
chrX:1615345
GA
GA
 G
G
 1 a0002c0002t0001g0222
a0002c0002t0001g0222
 1 NA18939.hp2
NA18939.hp2
 intron_variant MODIFIER c.69+82delA
c.69+82delA
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 INFO_REALIGN_3_PRIME chrX 1615345
chrX:1615390
G
G
 A
A
 1 a0002c0002t0001g0002
a0002c0002t0001g0002
 1 HG03453.hp1
HG03453.hp1
 intron_variant MODIFIER c.69+122G>A
c.69+122G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 chrX 1615390
chrX:1615453
TG
TG
 T
T
 1 a0002c0002t0001g0003
a0002c0002t0001g0003
 1 NA19003.hp2
NA19003.hp2
 intron_variant MODIFIER c.69+189delG
c.69+189delG
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 INFO_REALIGN_3_PRIME chrX 1615453
chrX:1615480
A
A
 G
G
 1 a0002c0002t0001g0221
a0002c0002t0001g0221
 1 HG01070.hp2
HG01070.hp2
 intron_variant MODIFIER c.69+212A>G
c.69+212A>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 chrX 1615480
chrX:1615493
T
T
 A
A
 132 a0001c0001t0001g0005
a0001c0001t0001g0006
a0001c0001t0001g0007
others(129): Show 
a0001c0001t0001g0005
a0001c0001t0001g0006
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0012
a0001c0001t0001g0014
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0019
a0001c0001t0001g0021
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0035
a0001c0001t0001g0037
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0053
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0061
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0079
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0086
a0001c0001t0001g0097
a0001c0001t0001g0100
a0001c0001t0001g0102
a0001c0001t0001g0103
a0001c0001t0001g0105
a0001c0001t0001g0106
a0001c0001t0001g0110
a0001c0001t0001g0114
a0001c0001t0001g0118
a0001c0001t0001g0121
a0001c0001t0001g0123
a0001c0001t0001g0128
a0001c0001t0002g0039
a0001c0001t0002g0120
a0001c0001t0003g0090
a0001c0003t0001g0013
a0001c0003t0001g0022
a0001c0003t0001g0023
a0001c0003t0001g0030
a0001c0003t0001g0032
a0001c0003t0001g0033
a0001c0003t0001g0038
a0001c0003t0001g0050
a0001c0003t0001g0051
a0001c0003t0001g0059
a0001c0003t0001g0062
a0001c0003t0001g0070
a0001c0003t0001g0080
a0001c0003t0001g0091
a0001c0003t0001g0092
a0001c0003t0001g0093
a0001c0003t0001g0094
a0001c0003t0001g0107
a0001c0003t0001g0113
a0001c0003t0001g0115
a0002c0002t0001g0002
a0002c0002t0001g0003
a0002c0002t0001g0009
a0002c0002t0001g0015
a0002c0002t0001g0018
a0002c0002t0001g0020
a0002c0002t0001g0026
a0002c0002t0001g0031
a0002c0002t0001g0042
a0002c0002t0001g0044
a0002c0002t0001g0052
a0002c0002t0001g0054
a0002c0002t0001g0055
a0002c0002t0001g0057
a0002c0002t0001g0066
a0002c0002t0001g0069
a0002c0002t0001g0073
a0002c0002t0001g0074
a0002c0002t0001g0078
a0002c0002t0001g0085
a0002c0002t0001g0087
a0002c0002t0001g0088
a0002c0002t0001g0089
a0002c0002t0001g0095
a0002c0002t0001g0098
a0002c0002t0001g0099
a0002c0002t0001g0108
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0119
a0002c0002t0001g0122
a0002c0002t0001g0124
a0002c0002t0001g0125
a0002c0002t0001g0126
a0002c0002t0001g0127
a0002c0002t0001g0129
a0002c0002t0001g0130
a0002c0002t0001g0221
a0002c0002t0001g0222
a0002c0002t0002g0096
a0002c0002t0002g0112
a0002c0002t0002g0131
a0002c0006t0001g0104
a0002c0010t0001g0010
a0003c0005t0001g0004
a0003c0009t0001g0011
a0005c0016t0001g0045
a0007c0012t0001g0109
a0008c0013t0001g0101
a0009c0014t0002g0075
a0011c0008t0001g0034
a0012c0007t0001g0036
a0013c0017t0001g0111
a0014c0018t0001g0060
 132 HG00099.hp1
HG00323.hp1
HG00323.hp2
others(129): Show 
HG00099.hp1
HG00323.hp1
HG00323.hp2
HG00544.hp1
HG00597.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01081.hp1
HG01081.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01256.hp1
HG01257.hp1
HG01257.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01516.hp1
HG01517.hp1
HG01884.hp2
HG01891.hp1
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02109.hp2
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02273.hp2
HG02280.hp1
HG02293.hp1
HG02293.hp2
HG02523.hp1
HG02523.hp2
HG02622.hp2
HG02630.hp2
HG02683.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02896.hp2
HG02922.hp2
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03195.hp1
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03540.hp1
HG03540.hp2
HG03669.hp2
HG03831.hp1
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp2
HG06807.hp1
NA18906.hp1
NA18939.hp1
NA18939.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18947.hp1
NA18947.hp2
NA18949.hp2
NA18950.hp1
NA18955.hp1
NA18956.hp1
NA18956.hp2
NA18963.hp1
NA18963.hp2
NA18968.hp2
NA18969.hp1
NA18973.hp1
NA18973.hp2
NA18974.hp1
NA18975.hp1
NA18980.hp1
NA18980.hp2
NA18981.hp2
NA18986.hp2
NA18988.hp1
NA18992.hp1
NA18992.hp2
NA18999.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19010.hp1
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19062.hp1
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19074.hp2
NA19077.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19082.hp1
NA19085.hp1
NA19091.hp1
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA21309.hp1
 intron_variant MODIFIER c.69+225T>A
c.69+225T>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 chrX 1615493
chrX:1615549
TC
TC
 T
T
 1 a0002c0002t0001g0003
a0002c0002t0001g0003
 1 NA19003.hp2
NA19003.hp2
 intron_variant MODIFIER c.69+284delC
c.69+284delC
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 INFO_REALIGN_3_PRIME chrX 1615549
chrX:1615552
C
C
 G
G
 2 a0001c0003t0001g0219
a0002c0002t0001g0220
a0001c0003t0001g0219
a0002c0002t0001g0220
 2 NA18950.hp2
NA19077.hp1
NA18950.hp2
NA19077.hp1
 intron_variant MODIFIER c.69+284C>G
c.69+284C>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 chrX 1615552
chrX:1615577
C
C
 T
T
 3 a0002c0002t0001g0003
a0002c0002t0001g0130
a0002c0002t0002g0131
a0002c0002t0001g0003
a0002c0002t0001g0130
a0002c0002t0002g0131
 3 NA18949.hp2
NA19003.hp2
NA19064.hp1
NA18949.hp2
NA19003.hp2
NA19064.hp1
 intron_variant MODIFIER c.69+309C>T
c.69+309C>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 chrX 1615577
chrX:1615592
C
C
 T
T
 1 a0002c0002t0001g0129
a0002c0002t0001g0129
 1 HG03239.hp1
HG03239.hp1
 intron_variant MODIFIER c.69+324C>T
c.69+324C>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 chrX 1615592
chrX:1615600
C
C
 T
T
 7 a0001c0001t0001g0123
a0001c0001t0001g0128
a0001c0001t0002g0218
others(4): Show 
a0001c0001t0001g0123
a0001c0001t0001g0128
a0001c0001t0002g0218
a0002c0002t0001g0124
a0002c0002t0001g0125
a0002c0002t0001g0126
a0002c0002t0001g0127
 7 HG00733.hp2
HG00741.hp1
HG01361.hp1
others(4): Show 
HG00733.hp2
HG00741.hp1
HG01361.hp1
HG01975.hp2
HG02293.hp2
HG02809.hp1
HG03239.hp2
 intron_variant MODIFIER c.69+332C>T
c.69+332C>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 chrX 1615600
chrX:1615661
G
G
 C
C
 1 a0002c0002t0001g0003
a0002c0002t0001g0003
 1 NA19003.hp2
NA19003.hp2
 intron_variant MODIFIER c.69+393G>C
c.69+393G>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 chrX 1615661
chrX:1615694
TG
TG
 T
T
 1 a0002c0002t0001g0003
a0002c0002t0001g0003
 1 NA19003.hp2
NA19003.hp2
 intron_variant MODIFIER c.69+429delG
c.69+429delG
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 INFO_REALIGN_3_PRIME chrX 1615694
chrX:1615733
C
C
 T
T
 17 a0001c0001t0001g0121
a0001c0001t0001g0205
a0001c0001t0001g0206
others(14): Show 
a0001c0001t0001g0121
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0209
a0001c0001t0001g0211
a0001c0001t0001g0212
a0001c0001t0001g0214
a0001c0001t0001g0215
a0001c0001t0002g0120
a0002c0002t0001g0119
a0002c0002t0001g0122
a0002c0002t0001g0208
a0002c0002t0001g0210
a0002c0002t0002g0207
a0002c0002t0002g0213
a0002c0002t0002g0216
a0002c0002t0002g0217
 17 HG01168.hp2
HG01175.hp2
HG01884.hp1
others(14): Show 
HG01168.hp2
HG01175.hp2
HG01884.hp1
HG01891.hp2
HG02109.hp1
HG02622.hp1
HG02723.hp1
HG02809.hp2
HG02896.hp1
HG02976.hp1
HG03041.hp2
HG03540.hp2
HG03927.hp2
NA18951.hp1
NA18981.hp1
NA18999.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.69+465C>T
c.69+465C>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 chrX 1615733
chrX:1615751
G
G
 A
A
 14 a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0209
others(11): Show 
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0209
a0001c0001t0001g0211
a0001c0001t0001g0212
a0001c0001t0001g0214
a0001c0001t0002g0120
a0001c0001t0002g0132
a0002c0002t0001g0119
a0002c0002t0001g0208
a0002c0002t0001g0210
a0002c0002t0002g0207
a0002c0002t0002g0213
a0003c0005t0001g0004
 14 HG01168.hp2
HG01891.hp2
HG02109.hp1
others(11): Show 
HG01168.hp2
HG01891.hp2
HG02109.hp1
HG02622.hp1
HG02683.hp1
HG02723.hp1
HG02809.hp2
HG02896.hp1
HG02976.hp1
HG03927.hp2
NA18951.hp1
NA18981.hp1
NA18999.hp2
NA20300.hp2
 intron_variant MODIFIER c.69+483G>A
c.69+483G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 chrX 1615751
chrX:1615751
G
G
 C
C
 2 a0001c0001t0001g0121
a0002c0002t0001g0122
a0001c0001t0001g0121
a0002c0002t0001g0122
 2 HG03041.hp2
HG03540.hp2
HG03041.hp2
HG03540.hp2
 intron_variant MODIFIER c.69+483G>C
c.69+483G>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 chrX 1615751
chrX:1615757
G
G
 A
A
 6 a0001c0001t0001g0005
a0001c0001t0001g0137
a0001c0001t0002g0134
others(3): Show 
a0001c0001t0001g0005
a0001c0001t0001g0137
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0003t0002g0133
a0002c0002t0002g0136
 6 HG02615.hp1
HG02615.hp2
HG03486.hp1
others(3): Show 
HG02615.hp1
HG02615.hp2
HG03486.hp1
HG03486.hp2
NA18949.hp1
NA18980.hp2
 intron_variant MODIFIER c.69+489G>A
c.69+489G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 chrX 1615757
chrX:1615759
A
A
 G
G
 3 a0001c0001t0001g0203
a0001c0001t0001g0204
a0003c0005t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0003c0005t0001g0202
 3 HG02451.hp2
HG02630.hp1
HG02922.hp1
HG02451.hp2
HG02630.hp1
HG02922.hp1
 intron_variant MODIFIER c.69+491A>G
c.69+491A>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 chrX 1615759
chrX:1615761
C
C
 T
T
 1 a0001c0001t0001g0214
a0001c0001t0001g0214
 1 HG02622.hp1
HG02622.hp1
 intron_variant MODIFIER c.69+493C>T
c.69+493C>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 chrX 1615761
chrX:1615763
C
C
 T
T
 1 a0001c0001t0001g0118
a0001c0001t0001g0118
 1 HG02109.hp2
HG02109.hp2
 intron_variant MODIFIER c.69+495C>T
c.69+495C>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 chrX 1615763
chrX:1615772
C
C
 A
A
 178 a0001c0001t0001g0001
a0001c0001t0001g0006
a0001c0001t0001g0007
others(175): Show 
a0001c0001t0001g0001
a0001c0001t0001g0006
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0012
a0001c0001t0001g0014
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0019
a0001c0001t0001g0021
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0035
a0001c0001t0001g0037
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0053
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0061
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0079
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0086
a0001c0001t0001g0118
a0001c0001t0001g0121
a0001c0001t0001g0123
a0001c0001t0001g0128
a0001c0001t0001g0138
a0001c0001t0001g0158
a0001c0001t0001g0174
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0209
a0001c0001t0001g0211
a0001c0001t0001g0212
a0001c0001t0001g0214
a0001c0001t0001g0215
a0001c0001t0002g0039
a0001c0001t0002g0120
a0001c0001t0002g0132
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0002g0140
a0001c0001t0002g0141
a0001c0001t0002g0143
a0001c0001t0002g0144
a0001c0001t0002g0145
a0001c0001t0002g0147
a0001c0001t0002g0152
a0001c0001t0002g0153
a0001c0001t0002g0157
a0001c0001t0002g0161
a0001c0001t0002g0164
a0001c0001t0002g0167
a0001c0001t0002g0168
a0001c0001t0002g0170
a0001c0001t0002g0176
a0001c0001t0002g0180
a0001c0001t0002g0184
a0001c0001t0002g0218
a0001c0001t0003g0090
a0001c0001t0005g0165
a0001c0003t0001g0013
a0001c0003t0001g0022
a0001c0003t0001g0023
a0001c0003t0001g0030
a0001c0003t0001g0032
a0001c0003t0001g0033
a0001c0003t0001g0038
a0001c0003t0001g0050
a0001c0003t0001g0051
a0001c0003t0001g0059
a0001c0003t0001g0062
a0001c0003t0001g0070
a0001c0003t0001g0080
a0001c0003t0001g0171
a0001c0003t0002g0133
a0001c0003t0002g0142
a0001c0003t0002g0149
a0001c0003t0002g0150
a0001c0003t0002g0155
a0001c0003t0002g0173
a0001c0003t0002g0177
a0001c0003t0002g0182
a0002c0002t0001g0002
a0002c0002t0001g0003
a0002c0002t0001g0009
a0002c0002t0001g0015
a0002c0002t0001g0018
a0002c0002t0001g0020
a0002c0002t0001g0026
a0002c0002t0001g0031
a0002c0002t0001g0042
a0002c0002t0001g0044
a0002c0002t0001g0052
a0002c0002t0001g0054
a0002c0002t0001g0055
a0002c0002t0001g0057
a0002c0002t0001g0066
a0002c0002t0001g0069
a0002c0002t0001g0073
a0002c0002t0001g0074
a0002c0002t0001g0078
a0002c0002t0001g0085
a0002c0002t0001g0087
a0002c0002t0001g0088
a0002c0002t0001g0089
a0002c0002t0001g0119
a0002c0002t0001g0122
a0002c0002t0001g0124
a0002c0002t0001g0125
a0002c0002t0001g0126
a0002c0002t0001g0127
a0002c0002t0001g0129
a0002c0002t0001g0130
a0002c0002t0001g0151
a0002c0002t0001g0175
a0002c0002t0001g0185
a0002c0002t0001g0189
a0002c0002t0001g0208
a0002c0002t0001g0210
a0002c0002t0001g0221
a0002c0002t0001g0222
a0002c0002t0002g0136
a0002c0002t0002g0146
a0002c0002t0002g0154
a0002c0002t0002g0156
a0002c0002t0002g0159
a0002c0002t0002g0160
a0002c0002t0002g0162
a0002c0002t0002g0163
a0002c0002t0002g0166
a0002c0002t0002g0172
a0002c0002t0002g0178
a0002c0002t0002g0181
a0002c0002t0002g0183
a0002c0002t0002g0186
a0002c0002t0002g0188
a0002c0002t0002g0207
a0002c0002t0002g0213
a0002c0002t0002g0216
a0002c0002t0002g0217
a0002c0006t0001g0187
a0002c0010t0001g0010
a0003c0005t0001g0004
a0003c0005t0001g0202
a0003c0009t0001g0011
a0004c0004t0001g0169
a0004c0004t0004g0148
a0005c0016t0001g0045
a0006c0011t0001g0139
a0009c0014t0002g0075
a0010c0015t0002g0179
a0011c0008t0001g0034
a0012c0007t0001g0036
a0014c0018t0001g0060
 179 HG00099.hp1
HG00099.hp2
HG00323.hp1
others(176): Show 
HG00099.hp1
HG00099.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp2
HG00597.hp1
HG00639.hp1
HG00639.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01256.hp1
HG01257.hp1
HG01257.hp2
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01496.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02148.hp1
HG02148.hp2
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02683.hp1
HG02683.hp2
HG02723.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03195.hp1
HG03195.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03669.hp1
HG03704.hp1
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG04184.hp2
HG04204.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp2
NA18942.hp1
NA18942.hp2
NA18947.hp1
NA18947.hp2
NA18949.hp2
NA18950.hp1
NA18951.hp1
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18963.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18973.hp1
NA18974.hp1
NA18975.hp2
NA18977.hp2
NA18980.hp1
NA18981.hp1
NA18981.hp2
NA18985.hp1
NA18988.hp1
NA18992.hp1
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19010.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19057.hp1
NA19057.hp2
NA19062.hp1
NA19065.hp1
NA19065.hp2
NA19072.hp2
NA19074.hp1
NA19080.hp1
NA19081.hp1
NA19081.hp2
NA19082.hp1
NA19085.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.69+504C>A
c.69+504C>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 chrX 1615772
chrX:1615780
G
G
 C
C
 6 a0001c0001t0001g0006
a0001c0001t0001g0007
a0001c0001t0001g0008
others(3): Show 
a0001c0001t0001g0006
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0138
a0001c0001t0001g0215
a0002c0002t0001g0009
 6 HG01884.hp1
HG02451.hp1
HG02630.hp2
others(3): Show 
HG01884.hp1
HG02451.hp1
HG02630.hp2
HG02886.hp1
HG03540.hp1
NA20129.hp1
 intron_variant MODIFIER c.69+512G>C
c.69+512G>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 chrX 1615780
chrX:1615780
G
G
 T
T
 1 a0002c0002t0001g0189
a0002c0002t0001g0189
 1 HG02886.hp2
HG02886.hp2
 intron_variant MODIFIER c.69+512G>T
c.69+512G>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 chrX 1615780
chrX:1615788
C
C
 T
T
 2 a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0116
a0002c0002t0001g0117
 2 HG01516.hp1
HG01517.hp1
HG01516.hp1
HG01517.hp1
 intron_variant MODIFIER c.69+520C>T
c.69+520C>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 chrX 1615788
chrX:1615789
A
A
 G
G
 2 a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0116
a0002c0002t0001g0117
 2 HG01516.hp1
HG01517.hp1
HG01516.hp1
HG01517.hp1
 intron_variant MODIFIER c.69+521A>G
c.69+521A>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 chrX 1615789
chrX:1615801
C
C
 CA
CA
 6 a0001c0001t0001g0137
a0001c0001t0002g0140
a0001c0003t0001g0091
others(3): Show 
a0001c0001t0001g0137
a0001c0001t0002g0140
a0001c0003t0001g0091
a0002c0010t0001g0010
a0003c0009t0001g0011
a0006c0011t0001g0139
 6 HG00597.hp2
HG01993.hp1
HG02559.hp2
others(3): Show 
HG00597.hp2
HG01993.hp1
HG02559.hp2
HG02622.hp2
NA18949.hp1
NA19030.hp2
 intron_variant MODIFIER c.69+542dupA
c.69+542dupA
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 INFO_REALIGN_3_PRIME chrX 1615801
chrX:1615801
CA
CA
 C
C
 1 a0002c0002t0001g0003
a0002c0002t0001g0003
 1 NA19003.hp2
NA19003.hp2
 intron_variant MODIFIER c.69+542delA
c.69+542delA
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 INFO_REALIGN_3_PRIME chrX 1615801
chrX:1615810
A
A
 C
C
 1 a0001c0001t0003g0090
a0001c0001t0003g0090
 1 HG02818.hp2
HG02818.hp2
 intron_variant MODIFIER c.69+542A>C
c.69+542A>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 chrX 1615810
chrX:1615823
C
C
 CA
CA
 4 a0001c0001t0002g0141
a0001c0001t0002g0143
a0001c0003t0001g0091
others(1): Show 
a0001c0001t0002g0141
a0001c0001t0002g0143
a0001c0003t0001g0091
a0001c0003t0002g0142
 4 HG00597.hp2
HG01071.hp2
HG03491.hp1
others(1): Show 
HG00597.hp2
HG01071.hp2
HG03491.hp1
HG03491.hp2
 intron_variant MODIFIER c.69+564dupA
c.69+564dupA
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 INFO_REALIGN_3_PRIME chrX 1615823
chrX:1615823
CA
CA
 C
C
 1 a0002c0002t0001g0003
a0002c0002t0001g0003
 1 NA19003.hp2
NA19003.hp2
 intron_variant MODIFIER c.69+564delA
c.69+564delA
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 INFO_REALIGN_3_PRIME chrX 1615823
chrX:1615847
G
G
 A
A
 59 a0001c0001t0001g0012
a0001c0001t0001g0014
a0001c0001t0001g0016
others(56): Show 
a0001c0001t0001g0012
a0001c0001t0001g0014
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0019
a0001c0001t0001g0021
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0035
a0001c0001t0001g0037
a0001c0001t0001g0121
a0001c0001t0001g0205
a0001c0001t0001g0214
a0001c0001t0002g0132
a0001c0001t0002g0134
a0001c0001t0002g0141
a0001c0001t0002g0144
a0001c0001t0002g0145
a0001c0001t0002g0147
a0001c0001t0002g0152
a0001c0001t0002g0153
a0001c0001t0002g0157
a0001c0001t0003g0090
a0001c0003t0001g0013
a0001c0003t0001g0022
a0001c0003t0001g0023
a0001c0003t0001g0030
a0001c0003t0001g0032
a0001c0003t0001g0033
a0001c0003t0001g0038
a0001c0003t0001g0092
a0001c0003t0001g0093
a0001c0003t0001g0094
a0001c0003t0002g0133
a0001c0003t0002g0142
a0001c0003t0002g0149
a0001c0003t0002g0150
a0001c0003t0002g0155
a0002c0002t0001g0002
a0002c0002t0001g0003
a0002c0002t0001g0015
a0002c0002t0001g0018
a0002c0002t0001g0020
a0002c0002t0001g0026
a0002c0002t0001g0031
a0002c0002t0001g0095
a0002c0002t0001g0130
a0002c0002t0001g0151
a0002c0002t0002g0146
a0002c0002t0002g0154
a0002c0002t0002g0156
a0002c0010t0001g0010
a0003c0005t0001g0004
a0004c0004t0004g0148
a0011c0008t0001g0034
a0012c0007t0001g0036
 59 HG00423.hp1
HG00438.hp2
HG00639.hp2
others(56): Show 
HG00423.hp1
HG00438.hp2
HG00639.hp2
HG00735.hp2
HG00741.hp2
HG01175.hp1
HG01496.hp2
HG01978.hp1
HG01981.hp2
HG02004.hp1
HG02004.hp2
HG02155.hp2
HG02257.hp1
HG02273.hp2
HG02280.hp1
HG02293.hp1
HG02523.hp2
HG02615.hp1
HG02622.hp1
HG02622.hp2
HG02683.hp1
HG02723.hp1
HG02818.hp2
HG02896.hp2
HG02922.hp2
HG03041.hp2
HG03195.hp1
HG03453.hp1
HG03486.hp2
HG03491.hp1
HG03491.hp2
HG03704.hp1
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03834.hp2
HG04184.hp1
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18947.hp1
NA18949.hp2
NA18954.hp1
NA18954.hp2
NA18969.hp1
NA18977.hp2
NA18980.hp1
NA18986.hp2
NA18992.hp2
NA18999.hp1
NA19002.hp2
NA19003.hp2
NA19010.hp2
NA19065.hp2
NA19082.hp1
NA19085.hp1
NA20300.hp1
NA20300.hp2
 intron_variant MODIFIER c.69+579G>A
c.69+579G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 chrX 1615847
chrX:1615847
G
G
 C
C
 1 a0001c0001t0002g0039
a0001c0001t0002g0039
 1 HG02165.hp1
HG02165.hp1
 intron_variant MODIFIER c.69+579G>C
c.69+579G>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 chrX 1615847
chrX:1615903
AT
AT
 A
A
 1 a0002c0002t0001g0003
a0002c0002t0001g0003
 1 NA19003.hp2
NA19003.hp2
 intron_variant MODIFIER c.69+640delT
c.69+640delT
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 INFO_REALIGN_3_PRIME chrX 1615903
chrX:1615930
G
G
 GTA
GTA
 6 a0001c0001t0001g0040
a0002c0002t0001g0119
a0002c0002t0002g0096
others(3): Show 
a0001c0001t0001g0040
a0002c0002t0001g0119
a0002c0002t0002g0096
a0002c0002t0002g0131
a0002c0002t0002g0216
a0002c0002t0002g0217
 6 HG00099.hp1
HG01168.hp2
HG01175.hp2
others(3): Show 
HG00099.hp1
HG01168.hp2
HG01175.hp2
NA18975.hp1
NA19064.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.69+666_69+667dupAT
c.69+666_69+667dupAT
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 INFO_REALIGN_3_PRIME chrX 1615930
chrX:1615950
AC
AC
 A
A
 1 a0003c0009t0001g0011
a0003c0009t0001g0011
 1 NA19030.hp2
NA19030.hp2
 intron_variant MODIFIER c.69+685delC
c.69+685delC
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 INFO_REALIGN_3_PRIME chrX 1615950
chrX:1616030
C
C
 CT
CT
 3 a0002c0002t0001g0087
a0002c0002t0001g0088
a0002c0002t0001g0089
a0002c0002t0001g0087
a0002c0002t0001g0088
a0002c0002t0001g0089
 3 HG00733.hp1
HG01081.hp1
HG01168.hp1
HG00733.hp1
HG01081.hp1
HG01168.hp1
 intron_variant MODIFIER c.69+770dupT
c.69+770dupT
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 INFO_REALIGN_3_PRIME chrX 1616030
chrX:1616039
A
A
 AT
AT
 66 a0001c0001t0001g0005
a0001c0001t0001g0024
a0001c0001t0001g0025
others(63): Show 
a0001c0001t0001g0005
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0035
a0001c0001t0001g0037
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0079
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0086
a0001c0001t0001g0110
a0001c0001t0001g0114
a0001c0001t0001g0128
a0001c0001t0002g0120
a0001c0001t0002g0152
a0001c0001t0002g0153
a0001c0001t0002g0157
a0001c0001t0002g0200
a0001c0001t0002g0201
a0001c0001t0002g0218
a0001c0003t0001g0023
a0001c0003t0001g0030
a0001c0003t0001g0032
a0001c0003t0001g0033
a0001c0003t0001g0038
a0001c0003t0001g0080
a0001c0003t0001g0094
a0001c0003t0001g0107
a0001c0003t0001g0113
a0001c0003t0001g0115
a0001c0003t0002g0149
a0001c0003t0002g0150
a0001c0003t0002g0155
a0002c0002t0001g0003
a0002c0002t0001g0026
a0002c0002t0001g0031
a0002c0002t0001g0078
a0002c0002t0001g0085
a0002c0002t0001g0095
a0002c0002t0001g0108
a0002c0002t0001g0125
a0002c0002t0001g0126
a0002c0002t0001g0127
a0002c0002t0001g0129
a0002c0002t0001g0130
a0002c0002t0001g0151
a0002c0002t0001g0185
a0002c0002t0001g0222
a0002c0002t0002g0112
a0002c0002t0002g0154
a0002c0002t0002g0156
a0002c0002t0002g0186
a0002c0002t0002g0188
a0002c0002t0002g0213
a0002c0006t0001g0187
a0004c0004t0004g0148
a0007c0012t0001g0109
a0011c0008t0001g0034
a0012c0007t0001g0036
a0013c0017t0001g0111
 66 HG00423.hp1
HG00438.hp2
HG00544.hp1
others(63): Show 
HG00423.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00639.hp2
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00741.hp1
HG01175.hp1
HG01257.hp2
HG01496.hp1
HG01496.hp2
HG01975.hp2
HG01978.hp1
HG01981.hp2
HG01993.hp2
HG02004.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp2
HG02257.hp2
HG02273.hp2
HG02293.hp1
HG02293.hp2
HG02523.hp1
HG02523.hp2
HG03239.hp1
HG03239.hp2
HG03669.hp1
HG03704.hp1
HG03831.hp1
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG04184.hp1
NA18939.hp2
NA18941.hp1
NA18941.hp2
NA18947.hp1
NA18947.hp2
NA18949.hp2
NA18950.hp1
NA18954.hp2
NA18955.hp1
NA18956.hp1
NA18963.hp1
NA18968.hp1
NA18969.hp1
NA18977.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp1
NA18992.hp1
NA18999.hp1
NA19002.hp2
NA19003.hp2
NA19010.hp2
NA19065.hp1
NA19065.hp2
NA19074.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19082.hp1
 intron_variant MODIFIER c.69+778dupT
c.69+778dupT
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 INFO_REALIGN_3_PRIME chrX 1616039
chrX:1616045
T
T
 C
C
 92 a0001c0001t0001g0001
a0001c0001t0001g0012
a0001c0001t0001g0040
others(89): Show 
a0001c0001t0001g0001
a0001c0001t0001g0012
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0053
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0061
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0067
a0001c0001t0001g0097
a0001c0001t0001g0100
a0001c0001t0001g0123
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0158
a0001c0001t0001g0174
a0001c0001t0001g0192
a0001c0001t0001g0203
a0001c0001t0001g0205
a0001c0001t0001g0214
a0001c0001t0002g0132
a0001c0001t0002g0134
a0001c0001t0002g0141
a0001c0001t0002g0144
a0001c0001t0002g0145
a0001c0001t0002g0161
a0001c0001t0002g0164
a0001c0001t0002g0167
a0001c0001t0002g0168
a0001c0001t0002g0170
a0001c0001t0002g0190
a0001c0001t0005g0165
a0001c0003t0001g0013
a0001c0003t0001g0050
a0001c0003t0001g0051
a0001c0003t0001g0059
a0001c0003t0001g0062
a0001c0003t0001g0091
a0001c0003t0001g0092
a0001c0003t0001g0093
a0001c0003t0001g0171
a0001c0003t0001g0193
a0001c0003t0001g0219
a0001c0003t0002g0133
a0001c0003t0002g0173
a0002c0002t0001g0042
a0002c0002t0001g0044
a0002c0002t0001g0052
a0002c0002t0001g0054
a0002c0002t0001g0055
a0002c0002t0001g0057
a0002c0002t0001g0066
a0002c0002t0001g0087
a0002c0002t0001g0088
a0002c0002t0001g0089
a0002c0002t0001g0098
a0002c0002t0001g0099
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0119
a0002c0002t0001g0122
a0002c0002t0001g0124
a0002c0002t0001g0175
a0002c0002t0001g0189
a0002c0002t0001g0220
a0002c0002t0001g0221
a0002c0002t0002g0096
a0002c0002t0002g0131
a0002c0002t0002g0146
a0002c0002t0002g0159
a0002c0002t0002g0160
a0002c0002t0002g0162
a0002c0002t0002g0163
a0002c0002t0002g0166
a0002c0002t0002g0172
a0002c0002t0002g0191
a0002c0002t0002g0216
a0002c0002t0002g0217
a0002c0010t0001g0010
a0003c0005t0001g0202
a0004c0004t0001g0169
a0005c0016t0001g0045
a0006c0011t0001g0139
a0014c0018t0001g0060
 93 HG00099.hp1
HG00323.hp1
HG00323.hp2
others(90): Show 
HG00099.hp1
HG00323.hp1
HG00323.hp2
HG00423.hp2
HG00438.hp1
HG00597.hp1
HG00597.hp2
HG00639.hp1
HG00733.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01081.hp1
HG01081.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp2
HG01256.hp1
HG01257.hp1
HG01346.hp1
HG01361.hp1
HG01361.hp2
HG01516.hp1
HG01517.hp1
HG01517.hp2
HG01975.hp1
HG01981.hp1
HG02004.hp2
HG02080.hp1
HG02080.hp2
HG02148.hp2
HG02257.hp1
HG02273.hp1
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp2
HG02615.hp1
HG02622.hp1
HG02622.hp2
HG02683.hp1
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp1
HG02886.hp2
HG02922.hp1
HG02976.hp2
HG03195.hp2
HG03486.hp2
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG04184.hp2
HG04204.hp2
HG06807.hp2
NA18906.hp2
NA18942.hp1
NA18942.hp2
NA18949.hp1
NA18950.hp2
NA18951.hp2
NA18963.hp2
NA18968.hp2
NA18973.hp1
NA18974.hp1
NA18975.hp1
NA18975.hp2
NA18981.hp2
NA18986.hp2
NA18988.hp1
NA18992.hp2
NA18998.hp1
NA18998.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19057.hp1
NA19057.hp2
NA19062.hp1
NA19064.hp1
NA19064.hp2
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19080.hp1
NA19085.hp1
NA19240.hp1
NA19240.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.69+777T>C
c.69+777T>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 chrX 1616045
chrX:1616067
A
A
 C
C
 1 a0002c0002t0001g0002
a0002c0002t0001g0002
 1 HG03453.hp1
HG03453.hp1
 intron_variant MODIFIER c.69+799A>C
c.69+799A>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 chrX 1616067
chrX:1616068
A
A
 G
G
 1 a0002c0002t0001g0002
a0002c0002t0001g0002
 1 HG03453.hp1
HG03453.hp1
 intron_variant MODIFIER c.69+800A>G
c.69+800A>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 chrX 1616068
chrX:1616071
C
C
 G
G
 1 a0002c0010t0001g0010
a0002c0010t0001g0010
 1 HG02622.hp2
HG02622.hp2
 intron_variant MODIFIER c.69+803C>G
c.69+803C>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 chrX 1616071
chrX:1616083
C
C
 T
T
 1 a0002c0002t0001g0002
a0002c0002t0001g0002
 1 HG03453.hp1
HG03453.hp1
 intron_variant MODIFIER c.69+815C>T
c.69+815C>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 chrX 1616083
chrX:1616090
A
A
 G
G
 3 a0002c0002t0001g0002
a0002c0002t0001g0175
a0002c0002t0001g0189
a0002c0002t0001g0002
a0002c0002t0001g0175
a0002c0002t0001g0189
 3 HG02886.hp2
HG03453.hp1
NA19240.hp2
HG02886.hp2
HG03453.hp1
NA19240.hp2
 intron_variant MODIFIER c.69+822A>G
c.69+822A>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 chrX 1616090
chrX:1616093
G
G
 A
A
 3 a0002c0002t0001g0002
a0002c0002t0001g0175
a0002c0002t0001g0189
a0002c0002t0001g0002
a0002c0002t0001g0175
a0002c0002t0001g0189
 3 HG02886.hp2
HG03453.hp1
NA19240.hp2
HG02886.hp2
HG03453.hp1
NA19240.hp2
 intron_variant MODIFIER c.69+825G>A
c.69+825G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 chrX 1616093
chrX:1616098
G
G
 A
A
 3 a0002c0002t0001g0002
a0002c0002t0001g0175
a0002c0002t0001g0189
a0002c0002t0001g0002
a0002c0002t0001g0175
a0002c0002t0001g0189
 3 HG02886.hp2
HG03453.hp1
NA19240.hp2
HG02886.hp2
HG03453.hp1
NA19240.hp2
 intron_variant MODIFIER c.69+830G>A
c.69+830G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 chrX 1616098
chrX:1616103
A
A
 C
C
 3 a0002c0002t0001g0002
a0002c0002t0001g0175
a0002c0002t0001g0189
a0002c0002t0001g0002
a0002c0002t0001g0175
a0002c0002t0001g0189
 3 HG02886.hp2
HG03453.hp1
NA19240.hp2
HG02886.hp2
HG03453.hp1
NA19240.hp2
 intron_variant MODIFIER c.69+835A>C
c.69+835A>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 chrX 1616103
chrX:1616107
C
C
 T
T
 3 a0002c0002t0001g0002
a0002c0002t0001g0175
a0002c0002t0001g0189
a0002c0002t0001g0002
a0002c0002t0001g0175
a0002c0002t0001g0189
 3 HG02886.hp2
HG03453.hp1
NA19240.hp2
HG02886.hp2
HG03453.hp1
NA19240.hp2
 intron_variant MODIFIER c.69+839C>T
c.69+839C>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 chrX 1616107
chrX:1616115
G
G
 A
A
 5 a0001c0001t0001g0001
a0001c0001t0001g0158
a0002c0002t0001g0002
others(2): Show 
a0001c0001t0001g0001
a0001c0001t0001g0158
a0002c0002t0001g0002
a0002c0002t0001g0175
a0002c0002t0001g0189
 6 HG02559.hp1
HG02886.hp2
HG03195.hp2
others(3): Show 
HG02559.hp1
HG02886.hp2
HG03195.hp2
HG03453.hp1
NA19240.hp1
NA19240.hp2
 intron_variant MODIFIER c.69+847G>A
c.69+847G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 chrX 1616115
chrX:1616121
A
A
 C
C
 8 a0001c0001t0001g0019
a0001c0001t0001g0021
a0001c0001t0001g0203
others(5): Show 
a0001c0001t0001g0019
a0001c0001t0001g0021
a0001c0001t0001g0203
a0001c0003t0001g0022
a0002c0002t0001g0002
a0002c0002t0001g0020
a0002c0002t0001g0175
a0002c0002t0001g0189
 8 HG02280.hp1
HG02451.hp2
HG02886.hp2
others(5): Show 
HG02280.hp1
HG02451.hp2
HG02886.hp2
HG03195.hp1
HG03453.hp1
NA18906.hp1
NA19240.hp2
NA20300.hp1
 intron_variant MODIFIER c.69+853A>C
c.69+853A>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 chrX 1616121
chrX:1616129
G
G
 A
A
 3 a0002c0002t0001g0002
a0002c0002t0001g0175
a0002c0002t0001g0189
a0002c0002t0001g0002
a0002c0002t0001g0175
a0002c0002t0001g0189
 3 HG02886.hp2
HG03453.hp1
NA19240.hp2
HG02886.hp2
HG03453.hp1
NA19240.hp2
 intron_variant MODIFIER c.69+861G>A
c.69+861G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 chrX 1616129
chrX:1616132
T
T
 G
G
 3 a0002c0002t0001g0002
a0002c0002t0001g0175
a0002c0002t0001g0189
a0002c0002t0001g0002
a0002c0002t0001g0175
a0002c0002t0001g0189
 3 HG02886.hp2
HG03453.hp1
NA19240.hp2
HG02886.hp2
HG03453.hp1
NA19240.hp2
 intron_variant MODIFIER c.69+864T>G
c.69+864T>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 chrX 1616132
chrX:1616143
T
T
 C
C
 36 a0001c0001t0001g0001
a0001c0001t0001g0014
a0001c0001t0001g0016
others(33): Show 
a0001c0001t0001g0001
a0001c0001t0001g0014
a0001c0001t0001g0016
a0001c0001t0001g0041
a0001c0001t0001g0068
a0001c0001t0001g0102
a0001c0001t0001g0103
a0001c0001t0001g0121
a0001c0001t0001g0138
a0001c0001t0001g0158
a0001c0001t0001g0194
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0214
a0001c0001t0002g0132
a0001c0001t0002g0140
a0001c0001t0002g0176
a0001c0001t0002g0180
a0001c0001t0002g0195
a0001c0003t0001g0023
a0001c0003t0001g0070
a0001c0003t0002g0177
a0002c0002t0001g0002
a0002c0002t0001g0015
a0002c0002t0001g0042
a0002c0002t0001g0069
a0002c0002t0001g0175
a0002c0002t0001g0185
a0002c0002t0001g0189
a0002c0002t0002g0178
a0002c0002t0002g0207
a0002c0006t0001g0104
a0003c0005t0001g0004
a0003c0009t0001g0011
a0008c0013t0001g0101
a0010c0015t0002g0179
 37 HG01175.hp1
HG01346.hp2
HG01884.hp2
others(34): Show 
HG01175.hp1
HG01346.hp2
HG01884.hp2
HG01891.hp1
HG01934.hp1
HG01978.hp2
HG01993.hp1
HG02148.hp1
HG02451.hp1
HG02559.hp1
HG02622.hp1
HG02683.hp1
HG02723.hp1
HG02886.hp2
HG02896.hp2
HG02922.hp2
HG03041.hp2
HG03195.hp2
HG03453.hp1
HG03669.hp2
HG03704.hp2
HG06807.hp1
NA18939.hp1
NA18942.hp2
NA18951.hp1
NA18956.hp2
NA18969.hp2
NA18973.hp1
NA18999.hp2
NA19002.hp1
NA19010.hp1
NA19030.hp2
NA19072.hp2
NA19074.hp1
NA19240.hp1
NA19240.hp2
NA20300.hp2
 intron_variant MODIFIER c.69+875T>C
c.69+875T>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 chrX 1616143
chrX:1616147
G
G
 A
A
 2 a0001c0001t0001g0017
a0001c0001t0003g0090
a0001c0001t0001g0017
a0001c0001t0003g0090
 2 HG00741.hp2
HG02818.hp2
HG00741.hp2
HG02818.hp2
 intron_variant MODIFIER c.69+879G>A
c.69+879G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 chrX 1616147
chrX:1616147
G
G
 C
C
 5 a0001c0001t0001g0043
a0001c0001t0001g0204
a0002c0002t0002g0159
others(2): Show 
a0001c0001t0001g0043
a0001c0001t0001g0204
a0002c0002t0002g0159
a0002c0002t0002g0160
a0006c0011t0001g0139
 5 HG02559.hp2
HG02630.hp1
HG02976.hp2
others(2): Show 
HG02559.hp2
HG02630.hp1
HG02976.hp2
HG03516.hp1
HG03516.hp2
 intron_variant MODIFIER c.69+879G>C
c.69+879G>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 chrX 1616147
chrX:1616152
C
C
 T
T
 3 a0002c0002t0001g0002
a0002c0002t0001g0175
a0002c0002t0001g0189
a0002c0002t0001g0002
a0002c0002t0001g0175
a0002c0002t0001g0189
 3 HG02886.hp2
HG03453.hp1
NA19240.hp2
HG02886.hp2
HG03453.hp1
NA19240.hp2
 intron_variant MODIFIER c.69+884C>T
c.69+884C>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 chrX 1616152
chrX:1616153
C
C
 T
T
 3 a0002c0002t0001g0002
a0002c0002t0001g0175
a0002c0002t0001g0189
a0002c0002t0001g0002
a0002c0002t0001g0175
a0002c0002t0001g0189
 3 HG02886.hp2
HG03453.hp1
NA19240.hp2
HG02886.hp2
HG03453.hp1
NA19240.hp2
 intron_variant MODIFIER c.69+885C>T
c.69+885C>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 chrX 1616153
chrX:1616157
T
T
 C
C
 2 a0001c0001t0001g0017
a0001c0001t0003g0090
a0001c0001t0001g0017
a0001c0001t0003g0090
 2 HG00741.hp2
HG02818.hp2
HG00741.hp2
HG02818.hp2
 intron_variant MODIFIER c.69+889T>C
c.69+889T>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 chrX 1616157
chrX:1616159
T
T
 G
G
 5 a0001c0001t0001g0017
a0001c0001t0003g0090
a0002c0002t0001g0002
others(2): Show 
a0001c0001t0001g0017
a0001c0001t0003g0090
a0002c0002t0001g0002
a0002c0002t0001g0175
a0002c0002t0001g0189
 5 HG00741.hp2
HG02818.hp2
HG02886.hp2
others(2): Show 
HG00741.hp2
HG02818.hp2
HG02886.hp2
HG03453.hp1
NA19240.hp2
 intron_variant MODIFIER c.69+891T>G
c.69+891T>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 chrX 1616159
chrX:1616163
G
G
 T
T
 3 a0002c0002t0001g0002
a0002c0002t0001g0175
a0002c0002t0001g0189
a0002c0002t0001g0002
a0002c0002t0001g0175
a0002c0002t0001g0189
 3 HG02886.hp2
HG03453.hp1
NA19240.hp2
HG02886.hp2
HG03453.hp1
NA19240.hp2
 intron_variant MODIFIER c.69+895G>T
c.69+895G>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 chrX 1616163
chrX:1616166
T
T
 C
C
 5 a0001c0001t0001g0017
a0001c0001t0003g0090
a0002c0002t0001g0002
others(2): Show 
a0001c0001t0001g0017
a0001c0001t0003g0090
a0002c0002t0001g0002
a0002c0002t0001g0175
a0002c0002t0001g0189
 5 HG00741.hp2
HG02818.hp2
HG02886.hp2
others(2): Show 
HG00741.hp2
HG02818.hp2
HG02886.hp2
HG03453.hp1
NA19240.hp2
 intron_variant MODIFIER c.69+898T>C
c.69+898T>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 chrX 1616166
chrX:1616172
GCACC
GCACC
 G
G
 3 a0002c0002t0001g0002
a0002c0002t0001g0175
a0002c0002t0001g0189
a0002c0002t0001g0002
a0002c0002t0001g0175
a0002c0002t0001g0189
 3 HG02886.hp2
HG03453.hp1
NA19240.hp2
HG02886.hp2
HG03453.hp1
NA19240.hp2
 intron_variant MODIFIER c.69+909_69+912delCA
others(2): Show 
c.69+909_69+912delCACC
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 INFO_REALIGN_3_PRIME chrX 1616172
chrX:1616174
A
A
 G
G
 1 a0001c0001t0001g0083
a0001c0001t0001g0083
 1 HG02257.hp2
HG02257.hp2
 intron_variant MODIFIER c.69+906A>G
c.69+906A>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 chrX 1616174
chrX:1616174
A
A
 T
T
 3 a0001c0001t0001g0084
a0001c0001t0001g0086
a0002c0002t0001g0085
a0001c0001t0001g0084
a0001c0001t0001g0086
a0002c0002t0001g0085
 3 NA18947.hp2
NA18950.hp1
NA19081.hp2
NA18947.hp2
NA18950.hp1
NA19081.hp2
 intron_variant MODIFIER c.69+906A>T
c.69+906A>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 chrX 1616174
chrX:1616177
C
C
 T
T
 3 a0002c0002t0001g0002
a0002c0002t0001g0175
a0002c0002t0001g0189
a0002c0002t0001g0002
a0002c0002t0001g0175
a0002c0002t0001g0189
 3 HG02886.hp2
HG03453.hp1
NA19240.hp2
HG02886.hp2
HG03453.hp1
NA19240.hp2
 intron_variant MODIFIER c.69+909C>T
c.69+909C>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 chrX 1616177
chrX:1616178
A
A
 G
G
 3 a0002c0002t0001g0002
a0002c0002t0001g0175
a0002c0002t0001g0189
a0002c0002t0001g0002
a0002c0002t0001g0175
a0002c0002t0001g0189
 3 HG02886.hp2
HG03453.hp1
NA19240.hp2
HG02886.hp2
HG03453.hp1
NA19240.hp2
 intron_variant MODIFIER c.69+910A>G
c.69+910A>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 chrX 1616178
chrX:1616178
ACCACCAC
others(673): Show 
ACCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCAC
CATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATTCACCTGC
CTCGGCCTCCCAAGGCCTCATTTCTTCTTCTCACAGAATAACATCGTGCT
CAGTGAAGGAAGGCTGACGTGAAAGGCCCCATATGGTATGACTTCATTTA
TATGAAATGTGCAGAGCAGGCAAATCCTTCGAGGTGGAAAGTGGACTGGT
GGTTTGCAGAGGCTGGGCAGGACTGCGGAGGGAGTGTTTAACGGAGACAG
TGTCCCTTTTTGGGGTGATGCAAATGTTCTGGAACCCGGCGGAAGTGCTG
GCTATACAACATCACGAATGTACTAAGTGCCCCTGAATTATGCTTGAAAA
GGGTTAATGATGGCCGGGCTCAGCGGTGACACCTGTCATCCCAACGGTTT
GGGGGTCCGAAACGAGGGAATCGCTTTAGCCCAGGAATTCGAGACCAGTC
TGGGCAACATAGTGAGACCCCCCATTTCTACAAATTCTTTTTTCTTTTTG
AGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAATGGCACGATCTC
GGCTCACTGCAAGCTCCACCTCCCAGGTTCACGCCATTCTCCTGCCTCAG
CCTCCCGAGTAGCTGGGATTACAGGCACCCG
 A
A
 1 a0001c0001t0001g0067
a0001c0001t0001g0067
 1 HG00323.hp2
HG00323.hp2
 intron_variant MODIFIER c.69+933_69+1612del
c.69+933_69+1612del
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 INFO_REALIGN_3_PRIME chrX 1616178
chrX:1616180
C
C
 G
G
 3 a0002c0002t0001g0002
a0002c0002t0001g0175
a0002c0002t0001g0189
a0002c0002t0001g0002
a0002c0002t0001g0175
a0002c0002t0001g0189
 3 HG02886.hp2
HG03453.hp1
NA19240.hp2
HG02886.hp2
HG03453.hp1
NA19240.hp2
 intron_variant MODIFIER c.69+912C>G
c.69+912C>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 chrX 1616180
chrX:1616185
C
C
 T
T
 1 a0001c0001t0002g0157
a0001c0001t0002g0157
 1 HG00735.hp2
HG00735.hp2
 intron_variant MODIFIER c.69+917C>T
c.69+917C>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 chrX 1616185
chrX:1616190
G
G
 A
A
 3 a0002c0002t0001g0002
a0002c0002t0001g0175
a0002c0002t0001g0189
a0002c0002t0001g0002
a0002c0002t0001g0175
a0002c0002t0001g0189
 3 HG02886.hp2
HG03453.hp1
NA19240.hp2
HG02886.hp2
HG03453.hp1
NA19240.hp2
 intron_variant MODIFIER c.69+922G>A
c.69+922G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 chrX 1616190
chrX:1616195
ATTTTTGT
others(2): Show 
ATTTTTGTAT
 A
A
 38 a0001c0001t0001g0006
a0001c0001t0001g0007
a0001c0001t0001g0008
others(35): Show 
a0001c0001t0001g0006
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0012
a0001c0001t0001g0040
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0097
a0001c0001t0001g0123
a0001c0001t0001g0204
a0001c0001t0001g0215
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0002g0144
a0001c0001t0002g0145
a0001c0001t0002g0161
a0001c0001t0002g0164
a0001c0001t0002g0190
a0001c0001t0002g0218
a0001c0003t0001g0107
a0001c0003t0002g0133
a0001c0003t0002g0149
a0002c0002t0001g0009
a0002c0002t0001g0044
a0002c0002t0001g0087
a0002c0002t0001g0088
a0002c0002t0001g0089
a0002c0002t0001g0108
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0119
a0002c0002t0001g0125
a0002c0002t0001g0126
a0002c0002t0001g0127
a0002c0002t0002g0162
a0002c0002t0002g0163
a0002c0010t0001g0010
a0004c0004t0004g0148
 38 HG00099.hp1
HG00438.hp1
HG00438.hp2
others(35): Show 
HG00099.hp1
HG00438.hp1
HG00438.hp2
HG00597.hp1
HG00733.hp1
HG00733.hp2
HG00741.hp1
HG01081.hp1
HG01168.hp1
HG01168.hp2
HG01256.hp1
HG01516.hp1
HG01517.hp1
HG01884.hp1
HG02155.hp1
HG02257.hp1
HG02293.hp2
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02723.hp2
HG02809.hp1
HG02886.hp1
HG03041.hp1
HG03239.hp2
HG03453.hp2
HG03486.hp2
HG03540.hp1
HG03831.hp2
HG06807.hp2
NA18906.hp2
NA19057.hp2
NA19064.hp2
NA19080.hp2
NA20129.hp1
 intron_variant MODIFIER c.69+932_69+940delTG
others(7): Show 
c.69+932_69+940delTGTATTTTT
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 INFO_REALIGN_3_PRIME chrX 1616195
chrX:1616258
A
A
 G
G
 1 a0001c0001t0001g0118
a0001c0001t0001g0118
 1 HG02109.hp2
HG02109.hp2
 intron_variant MODIFIER c.69+990A>G
c.69+990A>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 chrX 1616258
chrX:1616285
TC
TC
 T
T
 1 a0002c0002t0001g0222
a0002c0002t0001g0222
 1 NA18939.hp2
NA18939.hp2
 intron_variant MODIFIER c.69+1020delC
c.69+1020delC
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 INFO_REALIGN_3_PRIME chrX 1616285
chrX:1616306
T
T
 TC
TC
 1 a0002c0002t0001g0003
a0002c0002t0001g0003
 1 NA19003.hp2
NA19003.hp2
 intron_variant MODIFIER c.69+1039dupC
c.69+1039dupC
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 INFO_REALIGN_3_PRIME chrX 1616306
chrX:1616323
G
G
 A
A
 1 a0002c0002t0002g0186
a0002c0002t0002g0186
 1 NA18968.hp1
NA18968.hp1
 intron_variant MODIFIER c.69+1055G>A
c.69+1055G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 chrX 1616323
chrX:1616331
T
T
 G
G
 9 a0001c0001t0001g0043
a0001c0001t0001g0076
a0001c0001t0001g0121
others(6): Show 
a0001c0001t0001g0043
a0001c0001t0001g0076
a0001c0001t0001g0121
a0001c0001t0001g0128
a0001c0001t0002g0200
a0002c0002t0002g0191
a0003c0005t0001g0004
a0004c0004t0004g0148
a0005c0016t0001g0045
 9 HG00735.hp1
HG01517.hp2
HG01975.hp2
others(6): Show 
HG00735.hp1
HG01517.hp2
HG01975.hp2
HG01993.hp2
HG02976.hp2
HG03041.hp2
HG03831.hp2
NA19030.hp1
NA20300.hp2
 intron_variant MODIFIER c.69+1063T>G
c.69+1063T>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 chrX 1616331
chrX:1616360
A
A
 G
G
 76 a0001c0001t0001g0005
a0001c0001t0001g0006
a0001c0001t0001g0007
others(73): Show 
a0001c0001t0001g0005
a0001c0001t0001g0006
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0021
a0001c0001t0001g0035
a0001c0001t0001g0037
a0001c0001t0001g0041
a0001c0001t0001g0061
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0083
a0001c0001t0001g0100
a0001c0001t0001g0123
a0001c0001t0001g0174
a0001c0001t0001g0192
a0001c0001t0001g0209
a0001c0001t0001g0211
a0001c0001t0001g0212
a0001c0001t0001g0215
a0001c0001t0002g0120
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0002g0143
a0001c0001t0002g0144
a0001c0001t0002g0145
a0001c0001t0002g0157
a0001c0001t0002g0164
a0001c0001t0002g0180
a0001c0001t0002g0184
a0001c0001t0002g0190
a0001c0001t0002g0201
a0001c0003t0001g0022
a0001c0003t0001g0038
a0001c0003t0001g0062
a0001c0003t0001g0092
a0001c0003t0001g0093
a0001c0003t0001g0115
a0001c0003t0001g0193
a0001c0003t0002g0133
a0001c0003t0002g0142
a0001c0003t0002g0173
a0002c0002t0001g0003
a0002c0002t0001g0009
a0002c0002t0001g0020
a0002c0002t0001g0042
a0002c0002t0001g0066
a0002c0002t0001g0074
a0002c0002t0001g0087
a0002c0002t0001g0088
a0002c0002t0001g0089
a0002c0002t0001g0095
a0002c0002t0001g0099
a0002c0002t0001g0108
a0002c0002t0001g0122
a0002c0002t0001g0130
a0002c0002t0001g0210
a0002c0002t0001g0220
a0002c0002t0002g0136
a0002c0002t0002g0156
a0002c0002t0002g0162
a0002c0002t0002g0163
a0002c0002t0002g0188
a0002c0002t0002g0198
a0002c0002t0002g0199
a0002c0002t0002g0207
a0002c0006t0001g0104
a0003c0009t0001g0011
a0006c0011t0001g0139
a0009c0014t0002g0075
a0011c0008t0001g0034
a0012c0007t0001g0036
 76 HG00423.hp1
HG00423.hp2
HG00438.hp1
others(73): Show 
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00597.hp1
HG00733.hp1
HG00735.hp2
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01123.hp2
HG01168.hp1
HG01496.hp1
HG01516.hp2
HG01884.hp1
HG01891.hp2
HG01975.hp1
HG01981.hp1
HG01981.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp2
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02523.hp2
HG02559.hp2
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp2
HG02683.hp2
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02886.hp1
HG02896.hp1
HG02976.hp1
HG03041.hp1
HG03195.hp1
HG03453.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03540.hp1
HG03540.hp2
HG03669.hp1
HG03669.hp2
HG03927.hp2
HG04204.hp2
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18941.hp2
NA18942.hp2
NA18949.hp2
NA18951.hp2
NA18973.hp1
NA18980.hp2
NA18986.hp2
NA18992.hp2
NA18998.hp2
NA18999.hp2
NA19003.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp2
NA19065.hp2
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19080.hp2
NA19082.hp1
NA20129.hp1
NA20300.hp1
NA21309.hp1
 intron_variant MODIFIER c.69+1092A>G
c.69+1092A>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 chrX 1616360
chrX:1616408
G
G
 A
A
 2 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0024
a0001c0001t0001g0025
 2 HG03831.hp1
HG03834.hp2
HG03831.hp1
HG03834.hp2
 intron_variant MODIFIER c.69+1140G>A
c.69+1140G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 chrX 1616408
chrX:1616415
A
A
 G
G
 8 a0001c0001t0001g0137
a0001c0001t0001g0204
a0001c0003t0002g0155
others(5): Show 
a0001c0001t0001g0137
a0001c0001t0001g0204
a0001c0003t0002g0155
a0002c0002t0001g0119
a0002c0002t0002g0154
a0002c0002t0002g0159
a0002c0002t0002g0160
a0003c0005t0001g0004
 8 HG00639.hp2
HG01168.hp2
HG02630.hp1
others(5): Show 
HG00639.hp2
HG01168.hp2
HG02630.hp1
HG03516.hp1
HG03516.hp2
NA18949.hp1
NA18977.hp2
NA20300.hp2
 intron_variant MODIFIER c.69+1147A>G
c.69+1147A>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 chrX 1616415
chrX:1616511
AC
AC
 A
A
 1 a0002c0002t0001g0222
a0002c0002t0001g0222
 1 NA18939.hp2
NA18939.hp2
 intron_variant MODIFIER c.69+1246delC
c.69+1246delC
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 INFO_REALIGN_3_PRIME chrX 1616511
chrX:1616530
T
T
 C
C
 1 a0001c0001t0002g0200
a0001c0001t0002g0200
 1 HG01993.hp2
HG01993.hp2
 intron_variant MODIFIER c.69+1262T>C
c.69+1262T>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 chrX 1616530
chrX:1616552
A
A
 AC
AC
 1 a0002c0002t0001g0003
a0002c0002t0001g0003
 1 NA19003.hp2
NA19003.hp2
 intron_variant MODIFIER c.69+1284_69+1285ins
others(1): Show 
c.69+1284_69+1285insC
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 chrX 1616552
chrX:1616556
GC
GC
 G
G
 1 a0002c0002t0001g0222
a0002c0002t0001g0222
 1 NA18939.hp2
NA18939.hp2
 intron_variant MODIFIER c.69+1292delC
c.69+1292delC
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 INFO_REALIGN_3_PRIME chrX 1616556
chrX:1616592
C
C
 T
T
 4 a0001c0001t0001g0001
a0001c0001t0001g0158
a0001c0001t0001g0205
others(1): Show 
a0001c0001t0001g0001
a0001c0001t0001g0158
a0001c0001t0001g0205
a0001c0001t0001g0214
 5 HG02559.hp1
HG02622.hp1
HG02723.hp1
others(2): Show 
HG02559.hp1
HG02622.hp1
HG02723.hp1
HG03195.hp2
NA19240.hp1
 intron_variant MODIFIER c.69+1324C>T
c.69+1324C>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 chrX 1616592
chrX:1616602
G
G
 A
A
 7 a0001c0001t0001g0068
a0001c0001t0001g0102
a0001c0001t0001g0103
others(4): Show 
a0001c0001t0001g0068
a0001c0001t0001g0102
a0001c0001t0001g0103
a0001c0001t0001g0194
a0001c0001t0005g0165
a0001c0003t0001g0023
a0008c0013t0001g0101
 7 HG01175.hp1
HG01346.hp2
HG02273.hp1
others(4): Show 
HG01175.hp1
HG01346.hp2
HG02273.hp1
NA18939.hp1
NA18956.hp2
NA19002.hp1
NA19010.hp1
 intron_variant MODIFIER c.69+1334G>A
c.69+1334G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 chrX 1616602
chrX:1616650
G
G
 A
A
 1 a0002c0002t0001g0125
a0002c0002t0001g0125
 1 HG00733.hp2
HG00733.hp2
 intron_variant MODIFIER c.69+1382G>A
c.69+1382G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 chrX 1616650
chrX:1616694
A
A
 AC
AC
 1 a0003c0009t0001g0011
a0003c0009t0001g0011
 1 NA19030.hp2
NA19030.hp2
 intron_variant MODIFIER c.69+1432dupC
c.69+1432dupC
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 INFO_REALIGN_3_PRIME chrX 1616694
chrX:1616702
T
T
 C
C
 3 a0001c0001t0001g0006
a0001c0001t0001g0205
a0001c0001t0001g0214
a0001c0001t0001g0006
a0001c0001t0001g0205
a0001c0001t0001g0214
 3 HG02622.hp1
HG02723.hp1
HG03540.hp1
HG02622.hp1
HG02723.hp1
HG03540.hp1
 intron_variant MODIFIER c.69+1434T>C
c.69+1434T>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 chrX 1616702
chrX:1616731
CAG
CAG
 C
C
 11 a0001c0001t0001g0006
a0001c0001t0001g0068
a0001c0001t0001g0102
others(8): Show 
a0001c0001t0001g0006
a0001c0001t0001g0068
a0001c0001t0001g0102
a0001c0001t0001g0103
a0001c0001t0001g0194
a0001c0001t0001g0205
a0001c0001t0001g0214
a0001c0001t0005g0165
a0001c0003t0001g0023
a0002c0002t0001g0095
a0008c0013t0001g0101
 11 HG01175.hp1
HG01346.hp2
HG02155.hp2
others(8): Show 
HG01175.hp1
HG01346.hp2
HG02155.hp2
HG02273.hp1
HG02622.hp1
HG02723.hp1
HG03540.hp1
NA18939.hp1
NA18956.hp2
NA19002.hp1
NA19010.hp1
 intron_variant MODIFIER c.69+1466_69+1467del
others(2): Show 
c.69+1466_69+1467delAG
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 INFO_REALIGN_3_PRIME chrX 1616731
chrX:1616740
G
G
 A
A
 1 a0001c0001t0001g0014
a0001c0001t0001g0014
 1 HG06807.hp1
HG06807.hp1
 intron_variant MODIFIER c.69+1472G>A
c.69+1472G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 chrX 1616740
chrX:1616747
C
C
 G
G
 1 a0001c0001t0001g0072
a0001c0001t0001g0072
 1 HG03453.hp2
HG03453.hp2
 intron_variant MODIFIER c.69+1479C>G
c.69+1479C>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 chrX 1616747
chrX:1616748
G
G
 A
A
 1 a0002c0002t0002g0096
a0002c0002t0002g0096
 1 NA18975.hp1
NA18975.hp1
 intron_variant MODIFIER c.69+1480G>A
c.69+1480G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 chrX 1616748
chrX:1616763
C
C
 T
T
 1 a0002c0002t0001g0042
a0002c0002t0001g0042
 1 NA18942.hp2
NA18942.hp2
 intron_variant MODIFIER c.69+1495C>T
c.69+1495C>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 chrX 1616763
chrX:1616765
A
A
 G
G
 16 a0001c0001t0001g0065
a0001c0001t0001g0204
a0001c0001t0001g0206
others(13): Show 
a0001c0001t0001g0065
a0001c0001t0001g0204
a0001c0001t0001g0206
a0001c0001t0002g0132
a0001c0001t0002g0141
a0001c0001t0002g0170
a0001c0003t0001g0171
a0002c0002t0001g0042
a0002c0002t0001g0066
a0002c0002t0001g0124
a0002c0002t0001g0125
a0002c0002t0001g0127
a0002c0002t0002g0172
a0002c0002t0002g0207
a0002c0002t0002g0213
a0004c0004t0004g0148
 16 HG00733.hp2
HG01361.hp1
HG02293.hp2
others(13): Show 
HG00733.hp2
HG01361.hp1
HG02293.hp2
HG02630.hp1
HG02683.hp1
HG03491.hp2
HG03831.hp2
HG04204.hp2
NA18942.hp2
NA18951.hp1
NA18981.hp1
NA18998.hp1
NA18999.hp2
NA19011.hp1
NA19057.hp1
NA21309.hp2
 intron_variant MODIFIER c.69+1497A>G
c.69+1497A>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 chrX 1616765
chrX:1616769
C
C
 T
T
 1 a0004c0004t0004g0148
a0004c0004t0004g0148
 1 HG03831.hp2
HG03831.hp2
 intron_variant MODIFIER c.69+1501C>T
c.69+1501C>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 chrX 1616769
chrX:1616770
A
A
 G
G
 16 a0001c0001t0001g0065
a0001c0001t0001g0204
a0001c0001t0001g0206
others(13): Show 
a0001c0001t0001g0065
a0001c0001t0001g0204
a0001c0001t0001g0206
a0001c0001t0002g0132
a0001c0001t0002g0141
a0001c0001t0002g0170
a0001c0003t0001g0171
a0002c0002t0001g0042
a0002c0002t0001g0066
a0002c0002t0001g0124
a0002c0002t0001g0125
a0002c0002t0001g0127
a0002c0002t0002g0172
a0002c0002t0002g0207
a0002c0002t0002g0213
a0004c0004t0004g0148
 16 HG00733.hp2
HG01361.hp1
HG02293.hp2
others(13): Show 
HG00733.hp2
HG01361.hp1
HG02293.hp2
HG02630.hp1
HG02683.hp1
HG03491.hp2
HG03831.hp2
HG04204.hp2
NA18942.hp2
NA18951.hp1
NA18981.hp1
NA18998.hp1
NA18999.hp2
NA19011.hp1
NA19057.hp1
NA21309.hp2
 intron_variant MODIFIER c.69+1502A>G
c.69+1502A>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 chrX 1616770
chrX:1616771
C
C
 T
T
 1 a0004c0004t0004g0148
a0004c0004t0004g0148
 1 HG03831.hp2
HG03831.hp2
 intron_variant MODIFIER c.69+1503C>T
c.69+1503C>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 chrX 1616771
chrX:1616771
CG
CG
 C
C
 14 a0001c0001t0001g0065
a0001c0001t0001g0204
a0001c0001t0001g0206
others(11): Show 
a0001c0001t0001g0065
a0001c0001t0001g0204
a0001c0001t0001g0206
a0001c0001t0002g0132
a0001c0001t0002g0141
a0001c0001t0002g0170
a0001c0003t0001g0171
a0002c0002t0001g0066
a0002c0002t0001g0124
a0002c0002t0001g0125
a0002c0002t0001g0127
a0002c0002t0002g0172
a0002c0002t0002g0207
a0002c0002t0002g0213
 14 HG00733.hp2
HG01361.hp1
HG02293.hp2
others(11): Show 
HG00733.hp2
HG01361.hp1
HG02293.hp2
HG02630.hp1
HG02683.hp1
HG03491.hp2
HG04204.hp2
NA18951.hp1
NA18981.hp1
NA18998.hp1
NA18999.hp2
NA19011.hp1
NA19057.hp1
NA21309.hp2
 intron_variant MODIFIER c.69+1504delG
c.69+1504delG
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 chrX 1616771
chrX:1616772
G
G
 C
C
 11 a0001c0001t0001g0007
a0001c0001t0001g0012
a0001c0001t0001g0046
others(8): Show 
a0001c0001t0001g0007
a0001c0001t0001g0012
a0001c0001t0001g0046
a0001c0001t0001g0118
a0001c0001t0001g0209
a0001c0001t0001g0211
a0001c0003t0002g0133
a0002c0002t0001g0210
a0002c0002t0001g0221
a0002c0010t0001g0010
a0003c0005t0001g0202
 11 HG01070.hp2
HG02109.hp2
HG02257.hp1
others(8): Show 
HG01070.hp2
HG02109.hp2
HG02257.hp1
HG02622.hp2
HG02630.hp2
HG02809.hp2
HG02818.hp1
HG02896.hp1
HG02922.hp1
HG02976.hp1
HG03486.hp2
 intron_variant MODIFIER c.69+1504G>C
c.69+1504G>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 chrX 1616772
chrX:1616785
T
T
 G
G
 1 a0004c0004t0004g0148
a0004c0004t0004g0148
 1 HG03831.hp2
HG03831.hp2
 intron_variant MODIFIER c.69+1517T>G
c.69+1517T>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 chrX 1616785
chrX:1616786
G
G
 A
A
 1 a0004c0004t0004g0148
a0004c0004t0004g0148
 1 HG03831.hp2
HG03831.hp2
 intron_variant MODIFIER c.69+1518G>A
c.69+1518G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 chrX 1616786
chrX:1616789
A
A
 G
G
 1 a0001c0001t0002g0147
a0001c0001t0002g0147
 1 NA18954.hp1
NA18954.hp1
 intron_variant MODIFIER c.69+1521A>G
c.69+1521A>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 chrX 1616789
chrX:1616795
A
A
 G
G
 2 a0001c0001t0002g0147
a0004c0004t0004g0148
a0001c0001t0002g0147
a0004c0004t0004g0148
 2 HG03831.hp2
NA18954.hp1
HG03831.hp2
NA18954.hp1
 intron_variant MODIFIER c.69+1527A>G
c.69+1527A>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 chrX 1616795
chrX:1616802
A
A
 G
G
 7 a0001c0001t0001g0007
a0001c0001t0001g0012
a0001c0001t0001g0046
others(4): Show 
a0001c0001t0001g0007
a0001c0001t0001g0012
a0001c0001t0001g0046
a0001c0001t0001g0118
a0001c0001t0002g0147
a0002c0010t0001g0010
a0004c0004t0004g0148
 7 HG02109.hp2
HG02257.hp1
HG02622.hp2
others(4): Show 
HG02109.hp2
HG02257.hp1
HG02622.hp2
HG02630.hp2
HG02818.hp1
HG03831.hp2
NA18954.hp1
 intron_variant MODIFIER c.69+1534A>G
c.69+1534A>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 chrX 1616802
chrX:1616804
G
G
 A
A
 1 a0004c0004t0004g0148
a0004c0004t0004g0148
 1 HG03831.hp2
HG03831.hp2
 intron_variant MODIFIER c.69+1536G>A
c.69+1536G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 chrX 1616804
chrX:1616810
G
G
 A
A
 6 a0001c0001t0001g0209
a0001c0001t0001g0211
a0001c0003t0002g0133
others(3): Show 
a0001c0001t0001g0209
a0001c0001t0001g0211
a0001c0003t0002g0133
a0002c0002t0001g0210
a0002c0002t0001g0221
a0003c0005t0001g0202
 6 HG01070.hp2
HG02809.hp2
HG02896.hp1
others(3): Show 
HG01070.hp2
HG02809.hp2
HG02896.hp1
HG02922.hp1
HG02976.hp1
HG03486.hp2
 intron_variant MODIFIER c.69+1542G>A
c.69+1542G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 chrX 1616810
chrX:1616812
C
C
 CA
CA
 1 a0002c0002t0001g0003
a0002c0002t0001g0003
 1 NA19003.hp2
NA19003.hp2
 intron_variant MODIFIER c.69+1545dupA
c.69+1545dupA
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 INFO_REALIGN_3_PRIME chrX 1616812
chrX:1616830
TC
TC
 T
T
 1 a0002c0002t0001g0003
a0002c0002t0001g0003
 1 NA19003.hp2
NA19003.hp2
 intron_variant MODIFIER c.69+1565delC
c.69+1565delC
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 INFO_REALIGN_3_PRIME chrX 1616830
chrX:1616834
G
G
 A
A
 11 a0001c0001t0001g0027
a0001c0001t0001g0068
a0001c0001t0001g0102
others(8): Show 
a0001c0001t0001g0027
a0001c0001t0001g0068
a0001c0001t0001g0102
a0001c0001t0001g0103
a0001c0001t0001g0194
a0001c0001t0005g0165
a0001c0003t0001g0023
a0002c0002t0001g0026
a0002c0002t0001g0095
a0002c0002t0001g0108
a0008c0013t0001g0101
 11 HG01175.hp1
HG01346.hp2
HG01978.hp1
others(8): Show 
HG01175.hp1
HG01346.hp2
HG01978.hp1
HG02155.hp2
HG02273.hp1
HG02273.hp2
NA18939.hp1
NA18956.hp2
NA19002.hp1
NA19010.hp1
NA19080.hp2
 intron_variant MODIFIER c.69+1566G>A
c.69+1566G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 chrX 1616834
chrX:1616846
T
T
 C
C
 4 a0001c0001t0001g0019
a0001c0001t0001g0021
a0002c0002t0001g0020
others(1): Show 
a0001c0001t0001g0019
a0001c0001t0001g0021
a0002c0002t0001g0020
a0004c0004t0004g0148
 4 HG02280.hp1
HG03195.hp1
HG03831.hp2
others(1): Show 
HG02280.hp1
HG03195.hp1
HG03831.hp2
NA20300.hp1
 intron_variant MODIFIER c.69+1578T>C
c.69+1578T>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 chrX 1616846
chrX:1616854
A
A
 G
G
 18 a0001c0001t0001g0008
a0001c0001t0001g0016
a0001c0001t0001g0071
others(15): Show 
a0001c0001t0001g0008
a0001c0001t0001g0016
a0001c0001t0001g0071
a0001c0001t0001g0123
a0001c0001t0001g0203
a0001c0001t0001g0215
a0001c0001t0002g0144
a0001c0001t0002g0145
a0001c0001t0003g0090
a0001c0003t0001g0032
a0001c0003t0001g0033
a0002c0002t0001g0009
a0002c0002t0001g0042
a0002c0002t0001g0189
a0002c0002t0002g0159
a0002c0002t0002g0160
a0004c0004t0004g0148
a0014c0018t0001g0060
 18 HG01884.hp1
HG02451.hp2
HG02809.hp1
others(15): Show 
HG01884.hp1
HG02451.hp2
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02922.hp2
HG03041.hp1
HG03516.hp1
HG03516.hp2
HG03831.hp2
HG06807.hp2
NA18906.hp2
NA18942.hp2
NA18969.hp1
NA18980.hp1
NA18988.hp1
NA20129.hp1
 intron_variant MODIFIER c.69+1586A>G
c.69+1586A>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 chrX 1616854
chrX:1616857
C
C
 T
T
 2 a0002c0002t0001g0042
a0014c0018t0001g0060
a0002c0002t0001g0042
a0014c0018t0001g0060
 2 NA18942.hp2
NA18988.hp1
NA18942.hp2
NA18988.hp1
 intron_variant MODIFIER c.69+1589C>T
c.69+1589C>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 chrX 1616857
chrX:1616858
G
G
 A
A
 5 a0001c0001t0002g0167
a0001c0001t0002g0176
a0001c0003t0002g0149
others(2): Show 
a0001c0001t0002g0167
a0001c0001t0002g0176
a0001c0003t0002g0149
a0002c0002t0002g0096
a0002c0002t0002g0166
 5 HG00438.hp2
HG02080.hp1
NA18969.hp2
others(2): Show 
HG00438.hp2
HG02080.hp1
NA18969.hp2
NA18975.hp1
NA18975.hp2
 intron_variant MODIFIER c.69+1590G>A
c.69+1590G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 chrX 1616858
chrX:1616858
G
G
 C
C
 1 a0007c0012t0001g0109
a0007c0012t0001g0109
 1 NA18963.hp1
NA18963.hp1
 intron_variant MODIFIER c.69+1590G>C
c.69+1590G>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 chrX 1616858
chrX:1616866
G
G
 A
A
 1 a0001c0001t0001g0040
a0001c0001t0001g0040
 1 HG00099.hp1
HG00099.hp1
 intron_variant MODIFIER c.69+1598G>A
c.69+1598G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 chrX 1616866
chrX:1616908
C
C
 T
T
 1 a0002c0006t0001g0187
a0002c0006t0001g0187
 1 HG00544.hp2
HG00544.hp2
 intron_variant MODIFIER c.69+1640C>T
c.69+1640C>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 chrX 1616908
chrX:1616910
G
G
 A
A
 2 a0001c0001t0001g0083
a0001c0001t0002g0135
a0001c0001t0001g0083
a0001c0001t0002g0135
 2 HG02257.hp2
HG02615.hp2
HG02257.hp2
HG02615.hp2
 intron_variant MODIFIER c.69+1642G>A
c.69+1642G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 chrX 1616910
chrX:1616940
C
C
 A
A
 1 a0001c0001t0002g0120
a0001c0001t0002g0120
 1 HG03927.hp2
HG03927.hp2
 intron_variant MODIFIER c.69+1672C>A
c.69+1672C>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 chrX 1616940
chrX:1616951
G
G
 A
A
 6 a0001c0001t0001g0006
a0001c0001t0001g0014
a0001c0001t0001g0072
others(3): Show 
a0001c0001t0001g0006
a0001c0001t0001g0014
a0001c0001t0001g0072
a0001c0001t0001g0205
a0001c0001t0001g0214
a0001c0003t0001g0022
 6 HG02622.hp1
HG02723.hp1
HG03453.hp2
others(3): Show 
HG02622.hp1
HG02723.hp1
HG03453.hp2
HG03540.hp1
HG06807.hp1
NA18906.hp1
 intron_variant MODIFIER c.69+1683G>A
c.69+1683G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 chrX 1616951
chrX:1616955
G
G
 A
A
 1 a0002c0002t0001g0073
a0002c0002t0001g0073
 1 NA19003.hp1
NA19003.hp1
 intron_variant MODIFIER c.69+1687G>A
c.69+1687G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 chrX 1616955
chrX:1616997
T
T
 C
C
 1 a0001c0003t0002g0177
a0001c0003t0002g0177
 1 HG01934.hp1
HG01934.hp1
 intron_variant MODIFIER c.69+1729T>C
c.69+1729T>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 chrX 1616997
chrX:1617018
TA
TA
 T
T
 1 a0002c0002t0001g0003
a0002c0002t0001g0003
 1 NA19003.hp2
NA19003.hp2
 intron_variant MODIFIER c.69+1755delA
c.69+1755delA
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 INFO_REALIGN_3_PRIME chrX 1617018
chrX:1617024
T
T
 C
C
 36 a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0040
others(33): Show 
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0065
a0001c0001t0001g0077
a0001c0001t0001g0110
a0001c0001t0001g0137
a0001c0001t0002g0147
a0001c0001t0002g0152
a0001c0001t0002g0161
a0001c0001t0002g0168
a0001c0001t0002g0190
a0001c0001t0002g0196
a0001c0001t0002g0218
a0001c0003t0001g0013
a0001c0003t0001g0050
a0001c0003t0001g0051
a0001c0003t0001g0107
a0001c0003t0002g0150
a0002c0002t0001g0044
a0002c0002t0001g0052
a0002c0002t0001g0073
a0002c0002t0001g0098
a0002c0002t0001g0099
a0002c0002t0001g0108
a0002c0002t0001g0126
a0002c0002t0001g0151
a0002c0002t0002g0154
a0002c0002t0002g0156
a0002c0002t0002g0186
a0002c0002t0002g0191
a0002c0002t0002g0198
 36 HG00099.hp1
HG00423.hp1
HG00639.hp1
others(33): Show 
HG00099.hp1
HG00423.hp1
HG00639.hp1
HG00639.hp2
HG00741.hp1
HG01070.hp1
HG01071.hp1
HG01123.hp1
HG01123.hp2
HG01256.hp1
HG01346.hp1
HG01517.hp2
HG02155.hp1
HG02165.hp2
HG02723.hp2
HG03239.hp2
HG03704.hp1
HG04184.hp2
NA18949.hp1
NA18954.hp1
NA18954.hp2
NA18963.hp2
NA18968.hp1
NA18973.hp1
NA18999.hp1
NA19002.hp2
NA19003.hp1
NA19010.hp2
NA19011.hp1
NA19057.hp2
NA19062.hp1
NA19077.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19085.hp1
 intron_variant MODIFIER c.69+1756T>C
c.69+1756T>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 chrX 1617024
chrX:1617088
G
G
 A
A
 33 a0001c0001t0001g0001
a0001c0001t0001g0006
a0001c0001t0001g0008
others(30): Show 
a0001c0001t0001g0001
a0001c0001t0001g0006
a0001c0001t0001g0008
a0001c0001t0001g0014
a0001c0001t0001g0017
a0001c0001t0001g0019
a0001c0001t0001g0021
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0123
a0001c0001t0001g0138
a0001c0001t0001g0158
a0001c0001t0001g0203
a0001c0001t0001g0205
a0001c0001t0001g0209
a0001c0001t0001g0214
a0001c0001t0001g0215
a0001c0001t0002g0135
a0001c0001t0003g0090
a0001c0003t0001g0022
a0002c0002t0001g0002
a0002c0002t0001g0009
a0002c0002t0001g0020
a0002c0002t0001g0069
a0002c0002t0001g0122
a0002c0002t0001g0175
a0002c0002t0001g0189
a0002c0002t0001g0208
a0002c0002t0002g0136
a0002c0002t0002g0159
a0002c0002t0002g0160
a0005c0016t0001g0045
a0006c0011t0001g0139
 34 HG00741.hp2
HG01884.hp1
HG01891.hp1
others(31): Show 
HG00741.hp2
HG01884.hp1
HG01891.hp1
HG02109.hp1
HG02280.hp1
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp2
HG02622.hp1
HG02723.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG03041.hp1
HG03195.hp1
HG03195.hp2
HG03453.hp1
HG03453.hp2
HG03486.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG06807.hp1
NA18906.hp1
NA19030.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
 intron_variant MODIFIER c.69+1820G>A
c.69+1820G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 chrX 1617088
chrX:1617107
A
A
 AG
AG
 1 a0003c0009t0001g0011
a0003c0009t0001g0011
 1 NA19030.hp2
NA19030.hp2
 intron_variant MODIFIER c.69+1841dupG
c.69+1841dupG
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 INFO_REALIGN_3_PRIME chrX 1617107
chrX:1617140
T
T
 TC
TC
 1 a0002c0002t0001g0003
a0002c0002t0001g0003
 1 NA19003.hp2
NA19003.hp2
 intron_variant MODIFIER c.69+1874dupC
c.69+1874dupC
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 INFO_REALIGN_3_PRIME chrX 1617140
chrX:1617194
C
C
 A
A
 1 a0002c0002t0001g0003
a0002c0002t0001g0003
 1 NA19003.hp2
NA19003.hp2
 intron_variant MODIFIER c.69+1926C>A
c.69+1926C>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 chrX 1617194
chrX:1617223
C
C
 CT
CT
 1 a0003c0009t0001g0011
a0003c0009t0001g0011
 1 NA19030.hp2
NA19030.hp2
 intron_variant MODIFIER c.69+1960dupT
c.69+1960dupT
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 INFO_REALIGN_3_PRIME chrX 1617223
chrX:1617245
G
G
 A
A
 5 a0001c0001t0001g0008
a0001c0001t0001g0071
a0001c0001t0001g0215
others(2): Show 
a0001c0001t0001g0008
a0001c0001t0001g0071
a0001c0001t0001g0215
a0001c0001t0003g0090
a0002c0002t0001g0009
 5 HG01884.hp1
HG02818.hp2
HG02886.hp1
others(2): Show 
HG01884.hp1
HG02818.hp2
HG02886.hp1
HG03041.hp1
NA20129.hp1
 intron_variant MODIFIER c.69+1977G>A
c.69+1977G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 chrX 1617245
chrX:1617401
G
G
 T
T
 1 a0006c0011t0001g0139
a0006c0011t0001g0139
 1 HG02559.hp2
HG02559.hp2
 intron_variant MODIFIER c.69+2133G>T
c.69+2133G>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 chrX 1617401
chrX:1617505
A
A
 AG
AG
 3 a0002c0002t0001g0222
a0002c0002t0002g0178
a0003c0009t0001g0011
a0002c0002t0001g0222
a0002c0002t0002g0178
a0003c0009t0001g0011
 3 HG01978.hp2
NA18939.hp2
NA19030.hp2
HG01978.hp2
NA18939.hp2
NA19030.hp2
 intron_variant MODIFIER c.69+2242dupG
c.69+2242dupG
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 INFO_REALIGN_3_PRIME chrX 1617505
chrX:1617515
G
G
 A
A
 1 a0006c0011t0001g0139
a0006c0011t0001g0139
 1 HG02559.hp2
HG02559.hp2
 intron_variant MODIFIER c.69+2247G>A
c.69+2247G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 chrX 1617515
chrX:1617572
TG
TG
 T
T
 1 a0002c0002t0001g0003
a0002c0002t0001g0003
 1 NA19003.hp2
NA19003.hp2
 intron_variant MODIFIER c.69+2306delG
c.69+2306delG
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 INFO_REALIGN_3_PRIME chrX 1617572
chrX:1617597
C
C
 T
T
 2 a0001c0001t0001g0006
a0001c0001t0001g0072
a0001c0001t0001g0006
a0001c0001t0001g0072
 2 HG03453.hp2
HG03540.hp1
HG03453.hp2
HG03540.hp1
 intron_variant MODIFIER c.69+2329C>T
c.69+2329C>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 chrX 1617597
chrX:1617597
CG
CG
 C
C
 2 a0001c0003t0001g0059
a0003c0009t0001g0011
a0001c0003t0001g0059
a0003c0009t0001g0011
 2 NA18968.hp2
NA19030.hp2
NA18968.hp2
NA19030.hp2
 intron_variant MODIFIER c.69+2331delG
c.69+2331delG
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 INFO_REALIGN_3_PRIME chrX 1617597
chrX:1617599
G
G
 GT
GT
 3 a0001c0001t0002g0190
a0001c0003t0002g0155
a0002c0002t0001g0003
a0001c0001t0002g0190
a0001c0003t0002g0155
a0002c0002t0001g0003
 3 HG02723.hp2
NA18977.hp2
NA19003.hp2
HG02723.hp2
NA18977.hp2
NA19003.hp2
 intron_variant MODIFIER c.69+2339dupT
c.69+2339dupT
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 INFO_REALIGN_3_PRIME chrX 1617599
chrX:1617621
C
C
 CT
CT
 6 a0001c0001t0001g0017
a0001c0001t0001g0019
a0001c0001t0001g0021
others(3): Show 
a0001c0001t0001g0017
a0001c0001t0001g0019
a0001c0001t0001g0021
a0001c0003t0001g0033
a0002c0002t0001g0020
a0002c0002t0002g0178
 6 HG00741.hp2
HG01978.hp2
HG02280.hp1
others(3): Show 
HG00741.hp2
HG01978.hp2
HG02280.hp1
HG03195.hp1
NA18969.hp1
NA20300.hp1
 intron_variant MODIFIER c.69+2364dupT
c.69+2364dupT
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 INFO_REALIGN_3_PRIME chrX 1617621
chrX:1617655
G
G
 A
A
 14 a0001c0001t0001g0076
a0001c0001t0002g0120
a0001c0001t0002g0132
others(11): Show 
a0001c0001t0001g0076
a0001c0001t0002g0120
a0001c0001t0002g0132
a0001c0001t0002g0135
a0002c0002t0001g0018
a0002c0002t0001g0044
a0002c0002t0001g0066
a0002c0002t0001g0078
a0002c0002t0001g0125
a0002c0002t0001g0127
a0002c0002t0002g0146
a0002c0002t0002g0181
a0002c0002t0002g0191
a0004c0004t0004g0148
 14 HG00099.hp2
HG00733.hp2
HG00735.hp1
others(11): Show 
HG00099.hp2
HG00733.hp2
HG00735.hp1
HG01256.hp1
HG01517.hp2
HG02004.hp2
HG02293.hp2
HG02615.hp2
HG02683.hp1
HG03831.hp2
HG03834.hp1
HG03927.hp1
HG03927.hp2
HG04204.hp2
 intron_variant MODIFIER c.69+2387G>A
c.69+2387G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 chrX 1617655
chrX:1617669
G
G
 A
A
 1 a0001c0001t0001g0204
a0001c0001t0001g0204
 1 HG02630.hp1
HG02630.hp1
 intron_variant MODIFIER c.69+2401G>A
c.69+2401G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 chrX 1617669
chrX:1617737
TC
TC
 T
T
 1 a0002c0002t0001g0222
a0002c0002t0001g0222
 1 NA18939.hp2
NA18939.hp2
 intron_variant MODIFIER c.69+2472delC
c.69+2472delC
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 INFO_REALIGN_3_PRIME chrX 1617737
chrX:1617803
TG
TG
 T
T
 1 a0002c0002t0001g0003
a0002c0002t0001g0003
 1 NA19003.hp2
NA19003.hp2
 intron_variant MODIFIER c.69+2539delG
c.69+2539delG
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 INFO_REALIGN_3_PRIME chrX 1617803
chrX:1617813
C
C
 T
T
 34 a0001c0001t0001g0014
a0001c0001t0001g0029
a0001c0001t0001g0040
others(31): Show 
a0001c0001t0001g0014
a0001c0001t0001g0029
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0058
a0001c0001t0001g0065
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0082
a0001c0001t0001g0110
a0001c0001t0001g0137
a0001c0001t0001g0209
a0001c0001t0002g0147
a0001c0001t0002g0152
a0001c0001t0002g0161
a0001c0001t0002g0190
a0001c0001t0003g0090
a0001c0003t0001g0022
a0001c0003t0001g0038
a0001c0003t0001g0051
a0001c0003t0001g0094
a0001c0003t0001g0107
a0001c0003t0002g0150
a0002c0002t0001g0052
a0002c0002t0001g0073
a0002c0002t0001g0099
a0002c0002t0001g0108
a0002c0002t0001g0151
a0002c0002t0002g0146
a0002c0002t0002g0156
a0002c0002t0002g0172
a0002c0002t0002g0186
a0002c0002t0002g0207
a0002c0002t0002g0213
 34 HG00099.hp1
HG00423.hp1
HG00735.hp1
others(31): Show 
HG00099.hp1
HG00423.hp1
HG00735.hp1
HG01257.hp2
HG02004.hp2
HG02155.hp1
HG02165.hp2
HG02723.hp2
HG02809.hp2
HG02818.hp2
HG03704.hp1
HG04184.hp1
HG06807.hp1
NA18906.hp1
NA18949.hp1
NA18954.hp1
NA18954.hp2
NA18963.hp2
NA18968.hp1
NA18973.hp1
NA18981.hp1
NA18981.hp2
NA18999.hp2
NA19002.hp2
NA19003.hp1
NA19010.hp2
NA19011.hp1
NA19057.hp1
NA19057.hp2
NA19062.hp1
NA19065.hp2
NA19077.hp2
NA19080.hp2
NA19081.hp1
 intron_variant MODIFIER c.69+2545C>T
c.69+2545C>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 chrX 1617813
chrX:1617814
T
T
 TA
TA
 1 a0002c0002t0001g0003
a0002c0002t0001g0003
 1 NA19003.hp2
NA19003.hp2
 intron_variant MODIFIER c.69+2547dupA
c.69+2547dupA
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 INFO_REALIGN_3_PRIME chrX 1617814
chrX:1617863
G
G
 GC
GC
 1 a0003c0009t0001g0011
a0003c0009t0001g0011
 1 NA19030.hp2
NA19030.hp2
 intron_variant MODIFIER c.69+2600dupC
c.69+2600dupC
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 INFO_REALIGN_3_PRIME chrX 1617863
chrX:1617973
T
T
 C
C
 56 a0001c0001t0001g0005
a0001c0001t0001g0007
a0001c0001t0001g0012
others(53): Show 
a0001c0001t0001g0005
a0001c0001t0001g0007
a0001c0001t0001g0012
a0001c0001t0001g0046
a0001c0001t0001g0053
a0001c0001t0001g0061
a0001c0001t0001g0079
a0001c0001t0001g0084
a0001c0001t0001g0086
a0001c0001t0001g0097
a0001c0001t0001g0102
a0001c0001t0001g0103
a0001c0001t0001g0174
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0211
a0001c0001t0001g0212
a0001c0001t0002g0144
a0001c0001t0002g0145
a0001c0001t0002g0164
a0001c0001t0002g0176
a0001c0001t0002g0184
a0001c0001t0002g0195
a0001c0001t0002g0200
a0001c0003t0001g0013
a0001c0003t0001g0030
a0001c0003t0001g0062
a0001c0003t0001g0080
a0001c0003t0001g0091
a0001c0003t0001g0219
a0001c0003t0002g0155
a0001c0003t0002g0173
a0001c0003t0002g0182
a0002c0002t0001g0003
a0002c0002t0001g0042
a0002c0002t0001g0044
a0002c0002t0001g0054
a0002c0002t0001g0074
a0002c0002t0001g0085
a0002c0002t0001g0130
a0002c0002t0001g0189
a0002c0002t0001g0210
a0002c0002t0001g0221
a0002c0002t0002g0162
a0002c0002t0002g0163
a0002c0002t0002g0178
a0002c0002t0002g0191
a0002c0002t0002g0199
a0002c0002t0002g0216
a0008c0013t0001g0101
a0011c0008t0001g0034
a0013c0017t0001g0111
a0014c0018t0001g0060
 56 HG00423.hp2
HG00438.hp1
HG00597.hp1
others(53): Show 
HG00423.hp2
HG00438.hp1
HG00597.hp1
HG00597.hp2
HG01070.hp2
HG01256.hp1
HG01257.hp1
HG01516.hp2
HG01517.hp2
HG01891.hp2
HG01975.hp1
HG01978.hp2
HG01981.hp1
HG01993.hp2
HG02257.hp1
HG02280.hp2
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02602.hp2
HG02630.hp1
HG02630.hp2
HG02723.hp1
HG02818.hp1
HG02886.hp2
HG02896.hp1
HG02976.hp1
HG03704.hp2
HG06807.hp2
NA18906.hp2
NA18939.hp1
NA18942.hp2
NA18947.hp1
NA18947.hp2
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp2
NA18955.hp1
NA18956.hp2
NA18969.hp2
NA18974.hp1
NA18977.hp2
NA18980.hp2
NA18985.hp1
NA18988.hp1
NA18998.hp2
NA19002.hp1
NA19003.hp2
NA19010.hp1
NA19064.hp2
NA19065.hp1
NA19081.hp2
NA19085.hp1
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.69+2705T>C
c.69+2705T>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 chrX 1617973
chrX:1618045
T
T
 C
C
 40 a0001c0001t0001g0014
a0001c0001t0001g0029
a0001c0001t0001g0040
others(37): Show 
a0001c0001t0001g0014
a0001c0001t0001g0029
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0058
a0001c0001t0001g0065
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0082
a0001c0001t0001g0110
a0001c0001t0001g0137
a0001c0001t0001g0206
a0001c0001t0001g0209
a0001c0001t0002g0144
a0001c0001t0002g0145
a0001c0001t0002g0147
a0001c0001t0002g0152
a0001c0001t0002g0161
a0001c0001t0002g0190
a0001c0001t0003g0090
a0001c0003t0001g0022
a0001c0003t0001g0038
a0001c0003t0001g0051
a0001c0003t0001g0094
a0001c0003t0001g0107
a0001c0003t0002g0150
a0002c0002t0001g0052
a0002c0002t0001g0073
a0002c0002t0001g0099
a0002c0002t0001g0108
a0002c0002t0001g0122
a0002c0002t0001g0151
a0002c0002t0002g0146
a0002c0002t0002g0156
a0002c0002t0002g0166
a0002c0002t0002g0172
a0002c0002t0002g0186
a0002c0002t0002g0207
a0002c0002t0002g0213
a0005c0016t0001g0045
 40 HG00099.hp1
HG00423.hp1
HG00735.hp1
others(37): Show 
HG00099.hp1
HG00423.hp1
HG00735.hp1
HG01257.hp2
HG02004.hp2
HG02080.hp1
HG02155.hp1
HG02165.hp2
HG02723.hp2
HG02809.hp2
HG02818.hp2
HG03540.hp2
HG03704.hp1
HG04184.hp1
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18949.hp1
NA18951.hp1
NA18954.hp1
NA18954.hp2
NA18963.hp2
NA18968.hp1
NA18973.hp1
NA18981.hp1
NA18981.hp2
NA18999.hp2
NA19002.hp2
NA19003.hp1
NA19010.hp2
NA19011.hp1
NA19030.hp1
NA19057.hp1
NA19057.hp2
NA19062.hp1
NA19065.hp2
NA19077.hp2
NA19080.hp2
NA19081.hp1
 intron_variant MODIFIER c.69+2777T>C
c.69+2777T>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 chrX 1618045
chrX:1618062
TC
TC
 T
T
 1 a0003c0009t0001g0011
a0003c0009t0001g0011
 1 NA19030.hp2
NA19030.hp2
 intron_variant MODIFIER c.69+2796delC
c.69+2796delC
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 INFO_REALIGN_3_PRIME chrX 1618062
chrX:1618108
ACCTGGGA
others(9): Show 
ACCTGGGATTACAGGTG
 A
A
 5 a0001c0001t0001g0008
a0001c0001t0001g0071
a0001c0001t0001g0123
others(2): Show 
a0001c0001t0001g0008
a0001c0001t0001g0071
a0001c0001t0001g0123
a0001c0001t0001g0215
a0002c0002t0001g0009
 5 HG01884.hp1
HG02809.hp1
HG02886.hp1
others(2): Show 
HG01884.hp1
HG02809.hp1
HG02886.hp1
HG03041.hp1
NA20129.hp1
 intron_variant MODIFIER c.69+2845_69+2860del
others(16): Show 
c.69+2845_69+2860delGGATTACAGGTGCCTG
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 INFO_REALIGN_3_PRIME chrX 1618108
chrX:1618111
TG
TG
 T
T
 1 a0002c0002t0001g0222
a0002c0002t0001g0222
 1 NA18939.hp2
NA18939.hp2
 intron_variant MODIFIER c.69+2846delG
c.69+2846delG
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 INFO_REALIGN_3_PRIME chrX 1618111
chrX:1618145
A
A
 C
C
 1 a0002c0002t0001g0189
a0002c0002t0001g0189
 1 HG02886.hp2
HG02886.hp2
 intron_variant MODIFIER c.69+2877A>C
c.69+2877A>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 chrX 1618145
chrX:1618163
AT
AT
 A
A
 1 a0002c0002t0001g0003
a0002c0002t0001g0003
 1 NA19003.hp2
NA19003.hp2
 intron_variant MODIFIER c.69+2900delT
c.69+2900delT
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 INFO_REALIGN_3_PRIME chrX 1618163
chrX:1618217
G
G
 A
A
 1 a0001c0001t0001g0072
a0001c0001t0001g0072
 1 HG03453.hp2
HG03453.hp2
 intron_variant MODIFIER c.69+2949G>A
c.69+2949G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 chrX 1618217
chrX:1618244
A
A
 AC
AC
 1 a0003c0009t0001g0011
a0003c0009t0001g0011
 1 NA19030.hp2
NA19030.hp2
 intron_variant MODIFIER c.69+2978dupC
c.69+2978dupC
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 INFO_REALIGN_3_PRIME chrX 1618244
chrX:1618313
AC
AC
 A
A
 1 a0002c0002t0001g0003
a0002c0002t0001g0003
 1 NA19003.hp2
NA19003.hp2
 intron_variant MODIFIER c.69+3047delC
c.69+3047delC
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 INFO_REALIGN_3_PRIME chrX 1618313
chrX:1618398
G
G
 A
A
 1 a0001c0001t0003g0090
a0001c0001t0003g0090
 1 HG02818.hp2
HG02818.hp2
 intron_variant MODIFIER c.69+3130G>A
c.69+3130G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 chrX 1618398
chrX:1618415
C
C
 T
T
 2 a0001c0001t0001g0079
a0001c0003t0001g0080
a0001c0001t0001g0079
a0001c0003t0001g0080
 2 NA18955.hp1
NA19065.hp1
NA18955.hp1
NA19065.hp1
 intron_variant MODIFIER c.69+3147C>T
c.69+3147C>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 chrX 1618415
chrX:1618502
G
G
 GT
GT
 1 a0002c0002t0001g0003
a0002c0002t0001g0003
 1 NA19003.hp2
NA19003.hp2
 intron_variant MODIFIER c.69+3236dupT
c.69+3236dupT
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 INFO_REALIGN_3_PRIME chrX 1618502
chrX:1618556
TC
TC
 T
T
 1 a0002c0002t0001g0222
a0002c0002t0001g0222
 1 NA18939.hp2
NA18939.hp2
 intron_variant MODIFIER c.69+3291delC
c.69+3291delC
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 INFO_REALIGN_3_PRIME chrX 1618556
chrX:1618625
CG
CG
 C
C
 5 a0001c0003t0002g0133
a0002c0002t0001g0122
a0002c0002t0002g0136
others(2): Show 
a0001c0003t0002g0133
a0002c0002t0001g0122
a0002c0002t0002g0136
a0003c0005t0001g0202
a0005c0016t0001g0045
 5 HG02922.hp1
HG03486.hp1
HG03486.hp2
others(2): Show 
HG02922.hp1
HG03486.hp1
HG03486.hp2
HG03540.hp2
NA19030.hp1
 intron_variant MODIFIER c.69+3361delG
c.69+3361delG
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 INFO_REALIGN_3_PRIME chrX 1618625
chrX:1618648
G
G
 T
T
 2 a0001c0001t0002g0120
a0002c0002t0001g0078
a0001c0001t0002g0120
a0002c0002t0001g0078
 2 HG03927.hp1
HG03927.hp2
HG03927.hp1
HG03927.hp2
 intron_variant MODIFIER c.69+3380G>T
c.69+3380G>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 chrX 1618648
chrX:1618689
A
A
 G
G
 72 a0001c0001t0001g0001
a0001c0001t0001g0005
a0001c0001t0001g0007
others(69): Show 
a0001c0001t0001g0001
a0001c0001t0001g0005
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0012
a0001c0001t0001g0014
a0001c0001t0001g0027
a0001c0001t0001g0037
a0001c0001t0001g0046
a0001c0001t0001g0049
a0001c0001t0001g0056
a0001c0001t0001g0068
a0001c0001t0001g0071
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0086
a0001c0001t0001g0118
a0001c0001t0001g0123
a0001c0001t0001g0138
a0001c0001t0001g0158
a0001c0001t0001g0209
a0001c0001t0001g0214
a0001c0001t0001g0215
a0001c0001t0002g0039
a0001c0001t0002g0134
a0001c0001t0002g0140
a0001c0001t0002g0141
a0001c0001t0002g0164
a0001c0001t0002g0168
a0001c0001t0002g0170
a0001c0001t0002g0201
a0001c0001t0003g0090
a0001c0001t0005g0165
a0001c0003t0001g0022
a0001c0003t0001g0023
a0001c0003t0001g0050
a0001c0003t0001g0059
a0001c0003t0001g0070
a0001c0003t0001g0171
a0001c0003t0002g0133
a0001c0003t0002g0142
a0001c0003t0002g0149
a0002c0002t0001g0002
a0002c0002t0001g0009
a0002c0002t0001g0015
a0002c0002t0001g0026
a0002c0002t0001g0031
a0002c0002t0001g0054
a0002c0002t0001g0057
a0002c0002t0001g0069
a0002c0002t0001g0085
a0002c0002t0001g0089
a0002c0002t0001g0095
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0122
a0002c0002t0001g0124
a0002c0002t0001g0175
a0002c0002t0001g0185
a0002c0002t0001g0208
a0002c0002t0002g0096
a0002c0002t0002g0131
a0002c0002t0002g0136
a0002c0002t0002g0154
a0002c0002t0002g0166
a0002c0002t0002g0217
a0002c0006t0001g0187
a0002c0010t0001g0010
a0003c0005t0001g0202
a0004c0004t0001g0169
a0005c0016t0001g0045
a0010c0015t0002g0179
 73 HG00323.hp1
HG00438.hp2
HG00544.hp2
others(70): Show 
HG00323.hp1
HG00438.hp2
HG00544.hp2
HG00639.hp1
HG00639.hp2
HG00733.hp1
HG01175.hp1
HG01175.hp2
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01496.hp1
HG01516.hp1
HG01517.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01978.hp1
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02155.hp2
HG02165.hp1
HG02257.hp1
HG02273.hp1
HG02273.hp2
HG02451.hp1
HG02559.hp1
HG02602.hp2
HG02615.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02896.hp2
HG02922.hp1
HG03041.hp1
HG03195.hp2
HG03453.hp1
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03491.hp2
HG03540.hp2
HG04184.hp2
HG06807.hp1
NA18906.hp1
NA18947.hp2
NA18950.hp1
NA18968.hp2
NA18974.hp1
NA18975.hp1
NA18980.hp2
NA18992.hp1
NA18998.hp1
NA19030.hp1
NA19064.hp1
NA19072.hp2
NA19074.hp1
NA19080.hp1
NA19081.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA21309.hp2
 intron_variant MODIFIER c.69+3421A>G
c.69+3421A>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 chrX 1618689
chrX:1618746
AT
AT
 A
A
 1 a0002c0002t0001g0222
a0002c0002t0001g0222
 1 NA18939.hp2
NA18939.hp2
 intron_variant MODIFIER c.69+3484delT
c.69+3484delT
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 INFO_REALIGN_3_PRIME chrX 1618746
chrX:1618763
G
G
 T
T
 1 a0002c0002t0001g0122
a0002c0002t0001g0122
 1 HG03540.hp2
HG03540.hp2
 intron_variant MODIFIER c.69+3495G>T
c.69+3495G>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 chrX 1618763
chrX:1619028
AC
AC
 A
A
 1 a0002c0002t0001g0222
a0002c0002t0001g0222
 1 NA18939.hp2
NA18939.hp2
 intron_variant MODIFIER c.69+3763delC
c.69+3763delC
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 INFO_REALIGN_3_PRIME chrX 1619028
chrX:1619118
A
A
 G
G
 1 a0002c0002t0001g0078
a0002c0002t0001g0078
 1 HG03927.hp1
HG03927.hp1
 intron_variant MODIFIER c.69+3850A>G
c.69+3850A>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 chrX 1619118
chrX:1619167
G
G
 A
A
 1 a0001c0001t0001g0005
a0001c0001t0001g0005
 1 NA18980.hp2
NA18980.hp2
 intron_variant MODIFIER c.69+3899G>A
c.69+3899G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 chrX 1619167
chrX:1619192
G
G
 A
A
 9 a0001c0001t0001g0014
a0001c0001t0001g0205
a0001c0001t0001g0209
others(6): Show 
a0001c0001t0001g0014
a0001c0001t0001g0205
a0001c0001t0001g0209
a0001c0003t0001g0022
a0002c0002t0001g0002
a0002c0002t0001g0069
a0002c0002t0001g0175
a0002c0002t0001g0208
a0002c0002t0001g0210
 9 HG01891.hp1
HG02109.hp1
HG02723.hp1
others(6): Show 
HG01891.hp1
HG02109.hp1
HG02723.hp1
HG02809.hp2
HG02976.hp1
HG03453.hp1
HG06807.hp1
NA18906.hp1
NA19240.hp2
 intron_variant MODIFIER c.69+3924G>A
c.69+3924G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 chrX 1619192
chrX:1619203
G
G
 A
A
 3 a0001c0001t0001g0084
a0001c0001t0001g0086
a0002c0002t0001g0085
a0001c0001t0001g0084
a0001c0001t0001g0086
a0002c0002t0001g0085
 3 NA18947.hp2
NA18950.hp1
NA19081.hp2
NA18947.hp2
NA18950.hp1
NA19081.hp2
 intron_variant MODIFIER c.69+3935G>A
c.69+3935G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 chrX 1619203
chrX:1619286
TG
TG
 T
T
 1 a0002c0002t0001g0222
a0002c0002t0001g0222
 1 NA18939.hp2
NA18939.hp2
 intron_variant MODIFIER c.70-3850delG
c.70-3850delG
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 INFO_REALIGN_3_PRIME chrX 1619286
chrX:1619369
T
T
 G
G
 4 a0001c0001t0002g0167
a0001c0003t0001g0051
a0002c0002t0002g0112
others(1): Show 
a0001c0001t0002g0167
a0001c0003t0001g0051
a0002c0002t0002g0112
a0007c0012t0001g0109
 4 NA18941.hp1
NA18963.hp1
NA18963.hp2
others(1): Show 
NA18941.hp1
NA18963.hp1
NA18963.hp2
NA18975.hp2
 intron_variant MODIFIER c.70-3770T>G
c.70-3770T>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 chrX 1619369
chrX:1619369
TG
TG
 T
T
 1 a0002c0002t0001g0222
a0002c0002t0001g0222
 1 NA18939.hp2
NA18939.hp2
 intron_variant MODIFIER c.70-3765delG
c.70-3765delG
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 INFO_REALIGN_3_PRIME chrX 1619369
chrX:1619380
C
C
 CG
CG
 1 a0003c0009t0001g0011
a0003c0009t0001g0011
 1 NA19030.hp2
NA19030.hp2
 intron_variant MODIFIER c.70-3756dupG
c.70-3756dupG
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 INFO_REALIGN_3_PRIME chrX 1619380
chrX:1619381
G
G
 A
A
 4 a0001c0001t0001g0017
a0001c0001t0001g0019
a0001c0001t0001g0021
others(1): Show 
a0001c0001t0001g0017
a0001c0001t0001g0019
a0001c0001t0001g0021
a0002c0002t0001g0020
 4 HG00741.hp2
HG02280.hp1
HG03195.hp1
others(1): Show 
HG00741.hp2
HG02280.hp1
HG03195.hp1
NA20300.hp1
 intron_variant MODIFIER c.70-3758G>A
c.70-3758G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 chrX 1619381
chrX:1619393
C
C
 CA
CA
 6 a0001c0001t0001g0001
a0001c0001t0001g0061
a0001c0001t0001g0158
others(3): Show 
a0001c0001t0001g0001
a0001c0001t0001g0061
a0001c0001t0001g0158
a0001c0003t0002g0155
a0002c0002t0002g0166
a0002c0002t0002g0178
 7 HG01978.hp2
HG01981.hp1
HG02080.hp1
others(4): Show 
HG01978.hp2
HG01981.hp1
HG02080.hp1
HG02559.hp1
HG03195.hp2
NA18977.hp2
NA19240.hp1
 intron_variant MODIFIER c.70-3729dupA
c.70-3729dupA
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 INFO_REALIGN_3_PRIME chrX 1619393
chrX:1619393
C
C
 CAA
CAA
 1 a0006c0011t0001g0139
a0006c0011t0001g0139
 1 HG02559.hp2
HG02559.hp2
 intron_variant MODIFIER c.70-3730_70-3729dup
others(2): Show 
c.70-3730_70-3729dupAA
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 INFO_REALIGN_3_PRIME chrX 1619393
chrX:1619393
CA
CA
 C
C
 28 a0001c0001t0001g0014
a0001c0001t0001g0027
a0001c0001t0001g0037
others(25): Show 
a0001c0001t0001g0014
a0001c0001t0001g0027
a0001c0001t0001g0037
a0001c0001t0001g0081
a0001c0001t0001g0205
a0001c0001t0001g0209
a0001c0001t0002g0140
a0001c0001t0002g0144
a0001c0001t0002g0145
a0001c0001t0002g0201
a0001c0003t0001g0022
a0001c0003t0001g0033
a0001c0003t0001g0091
a0001c0003t0002g0142
a0002c0002t0001g0002
a0002c0002t0001g0003
a0002c0002t0001g0026
a0002c0002t0001g0069
a0002c0002t0001g0175
a0002c0002t0001g0185
a0002c0002t0001g0208
a0002c0002t0001g0210
a0002c0002t0002g0131
a0002c0006t0001g0187
a0003c0005t0001g0004
a0004c0004t0001g0169
a0009c0014t0002g0075
a0010c0015t0002g0179
 28 HG00544.hp2
HG00597.hp2
HG01496.hp1
others(25): Show 
HG00544.hp2
HG00597.hp2
HG01496.hp1
HG01891.hp1
HG01978.hp1
HG01981.hp2
HG01993.hp1
HG02080.hp2
HG02109.hp1
HG02273.hp2
HG02683.hp2
HG02723.hp1
HG02809.hp2
HG02976.hp1
HG03453.hp1
HG03491.hp1
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18969.hp1
NA18992.hp1
NA19003.hp2
NA19064.hp1
NA19072.hp2
NA19074.hp1
NA19240.hp2
NA20300.hp2
 intron_variant MODIFIER c.70-3729delA
c.70-3729delA
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 INFO_REALIGN_3_PRIME chrX 1619393
chrX:1619393
CAA
CAA
 C
C
 1 a0001c0001t0001g0204
a0001c0001t0001g0204
 1 HG02630.hp1
HG02630.hp1
 intron_variant MODIFIER c.70-3730_70-3729del
others(2): Show 
c.70-3730_70-3729delAA
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 INFO_REALIGN_3_PRIME chrX 1619393
chrX:1619515
T
T
 G
G
 10 a0001c0001t0001g0014
a0001c0001t0001g0204
a0001c0001t0001g0205
others(7): Show 
a0001c0001t0001g0014
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0209
a0001c0003t0001g0022
a0002c0002t0001g0002
a0002c0002t0001g0069
a0002c0002t0001g0175
a0002c0002t0001g0208
a0002c0002t0001g0210
 10 HG01891.hp1
HG02109.hp1
HG02630.hp1
others(7): Show 
HG01891.hp1
HG02109.hp1
HG02630.hp1
HG02723.hp1
HG02809.hp2
HG02976.hp1
HG03453.hp1
HG06807.hp1
NA18906.hp1
NA19240.hp2
 intron_variant MODIFIER c.70-3624T>G
c.70-3624T>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 chrX 1619515
chrX:1619549
T
T
 TATA
TATA
 52 a0001c0001t0001g0017
a0001c0001t0001g0019
a0001c0001t0001g0021
others(49): Show 
a0001c0001t0001g0017
a0001c0001t0001g0019
a0001c0001t0001g0021
a0001c0001t0001g0029
a0001c0001t0001g0079
a0001c0001t0001g0100
a0001c0001t0001g0114
a0001c0001t0001g0174
a0001c0001t0002g0134
a0001c0001t0002g0147
a0001c0001t0002g0152
a0001c0001t0002g0167
a0001c0001t0002g0176
a0001c0001t0002g0184
a0001c0001t0002g0196
a0001c0001t0002g0200
a0001c0001t0002g0218
a0001c0003t0001g0013
a0001c0003t0001g0038
a0001c0003t0001g0051
a0001c0003t0001g0062
a0001c0003t0001g0080
a0001c0003t0001g0107
a0001c0003t0001g0115
a0001c0003t0001g0193
a0001c0003t0002g0133
a0001c0003t0002g0173
a0001c0003t0002g0182
a0002c0002t0001g0003
a0002c0002t0001g0020
a0002c0002t0001g0044
a0002c0002t0001g0055
a0002c0002t0001g0087
a0002c0002t0001g0088
a0002c0002t0001g0098
a0002c0002t0001g0122
a0002c0002t0001g0130
a0002c0002t0002g0136
a0002c0002t0002g0162
a0002c0002t0002g0163
a0002c0002t0002g0178
a0002c0002t0002g0181
a0002c0002t0002g0183
a0002c0002t0002g0199
a0002c0002t0002g0216
a0003c0005t0001g0004
a0005c0016t0001g0045
a0007c0012t0001g0109
a0009c0014t0002g0075
a0012c0007t0001g0036
a0013c0017t0001g0111
a0014c0018t0001g0060
 52 HG00099.hp2
HG00423.hp2
HG00438.hp1
others(49): Show 
HG00099.hp2
HG00423.hp2
HG00438.hp1
HG00544.hp1
HG00597.hp1
HG00741.hp1
HG00741.hp2
HG01081.hp1
HG01123.hp1
HG01168.hp1
HG01256.hp1
HG01346.hp1
HG01516.hp2
HG01975.hp1
HG01978.hp2
HG01993.hp2
HG02155.hp1
HG02280.hp1
HG02280.hp2
HG02523.hp1
HG02615.hp1
HG02683.hp2
HG03195.hp1
HG03486.hp1
HG03486.hp2
HG03540.hp2
HG03704.hp1
NA18941.hp2
NA18942.hp1
NA18949.hp2
NA18954.hp1
NA18955.hp1
NA18963.hp1
NA18963.hp2
NA18969.hp2
NA18975.hp2
NA18985.hp1
NA18988.hp1
NA18998.hp2
NA19002.hp2
NA19003.hp2
NA19011.hp2
NA19030.hp1
NA19065.hp1
NA19065.hp2
NA19074.hp2
NA19082.hp1
NA19085.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.70-3552_70-3550dup
others(3): Show 
c.70-3552_70-3550dupTAA
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 INFO_REALIGN_3_PRIME chrX 1619549
chrX:1619549
T
T
 TATAATA
TATAATA
 30 a0001c0001t0001g0005
a0001c0001t0001g0016
a0001c0001t0001g0046
others(27): Show 
a0001c0001t0001g0005
a0001c0001t0001g0016
a0001c0001t0001g0046
a0001c0001t0001g0084
a0001c0001t0001g0086
a0001c0001t0001g0097
a0001c0001t0001g0203
a0001c0001t0001g0209
a0001c0001t0002g0168
a0001c0001t0002g0195
a0001c0003t0001g0030
a0001c0003t0001g0032
a0001c0003t0001g0033
a0001c0003t0001g0219
a0001c0003t0002g0155
a0002c0002t0001g0002
a0002c0002t0001g0018
a0002c0002t0001g0042
a0002c0002t0001g0054
a0002c0002t0001g0085
a0002c0002t0001g0175
a0002c0002t0001g0189
a0002c0002t0001g0221
a0002c0002t0002g0159
a0002c0002t0002g0191
a0002c0006t0001g0104
a0002c0010t0001g0010
a0006c0011t0001g0139
a0010c0015t0002g0179
a0011c0008t0001g0034
 30 HG00639.hp1
HG01070.hp2
HG01517.hp2
others(27): Show 
HG00639.hp1
HG01070.hp2
HG01517.hp2
HG02451.hp2
HG02523.hp2
HG02559.hp2
HG02622.hp2
HG02809.hp2
HG02818.hp1
HG02886.hp2
HG02922.hp2
HG03453.hp1
HG03516.hp1
HG03669.hp2
HG03704.hp2
HG03834.hp1
NA18942.hp2
NA18947.hp1
NA18947.hp2
NA18950.hp1
NA18950.hp2
NA18969.hp1
NA18974.hp1
NA18977.hp2
NA18980.hp1
NA18980.hp2
NA19064.hp2
NA19072.hp2
NA19081.hp2
NA19240.hp2
 intron_variant MODIFIER c.70-3555_70-3550dup
others(6): Show 
c.70-3555_70-3550dupTAATAA
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 INFO_REALIGN_3_PRIME chrX 1619549
chrX:1619549
T
T
 TATAATAA
others(2): Show 
TATAATAATA
 9 a0001c0001t0001g0014
a0001c0001t0001g0118
a0001c0001t0001g0205
others(6): Show 
a0001c0001t0001g0014
a0001c0001t0001g0118
a0001c0001t0001g0205
a0001c0001t0001g0212
a0001c0001t0002g0164
a0001c0003t0001g0022
a0002c0002t0001g0069
a0002c0002t0001g0208
a0002c0002t0002g0160
 9 HG01891.hp1
HG01891.hp2
HG02109.hp1
others(6): Show 
HG01891.hp1
HG01891.hp2
HG02109.hp1
HG02109.hp2
HG02602.hp2
HG02723.hp1
HG03516.hp2
HG06807.hp1
NA18906.hp1
 intron_variant MODIFIER c.70-3558_70-3550dup
others(9): Show 
c.70-3558_70-3550dupTAATAATAA
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 INFO_REALIGN_3_PRIME chrX 1619549
chrX:1619549
T
T
 TATAATAA
others(5): Show 
TATAATAATAATA
 1 a0002c0002t0001g0210
a0002c0002t0001g0210
 1 HG02976.hp1
HG02976.hp1
 intron_variant MODIFIER c.70-3561_70-3550dup
others(12): Show 
c.70-3561_70-3550dupTAATAATAATAA
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 INFO_REALIGN_3_PRIME chrX 1619549
chrX:1619549
T
T
 TATAATAA
others(8): Show 
TATAATAATAATAATA
 1 a0001c0001t0001g0204
a0001c0001t0001g0204
 1 HG02630.hp1
HG02630.hp1
 intron_variant MODIFIER c.70-3564_70-3550dup
others(15): Show 
c.70-3564_70-3550dupTAATAATAATAATAA
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 INFO_REALIGN_3_PRIME chrX 1619549
chrX:1619549
TATA
TATA
 T
T
 41 a0001c0001t0001g0001
a0001c0001t0001g0041
a0001c0001t0001g0049
others(38): Show 
a0001c0001t0001g0001
a0001c0001t0001g0041
a0001c0001t0001g0049
a0001c0001t0001g0056
a0001c0001t0001g0068
a0001c0001t0001g0077
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0158
a0001c0001t0002g0039
a0001c0001t0002g0135
a0001c0001t0002g0141
a0001c0001t0002g0161
a0001c0001t0002g0170
a0001c0001t0002g0190
a0001c0001t0005g0165
a0001c0003t0001g0023
a0001c0003t0001g0059
a0001c0003t0001g0070
a0001c0003t0001g0094
a0001c0003t0001g0171
a0001c0003t0002g0149
a0001c0003t0002g0150
a0002c0002t0001g0015
a0002c0002t0001g0031
a0002c0002t0001g0052
a0002c0002t0001g0057
a0002c0002t0001g0073
a0002c0002t0001g0095
a0002c0002t0001g0099
a0002c0002t0001g0108
a0002c0002t0001g0119
a0002c0002t0001g0124
a0002c0002t0001g0129
a0002c0002t0001g0151
a0002c0002t0001g0222
a0002c0002t0002g0096
a0002c0002t0002g0112
a0002c0002t0002g0156
a0002c0002t0002g0166
a0002c0002t0002g0186
 42 HG00323.hp1
HG00423.hp1
HG00438.hp2
others(39): Show 
HG00323.hp1
HG00423.hp1
HG00438.hp2
HG01168.hp2
HG01175.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01884.hp2
HG02004.hp1
HG02080.hp1
HG02155.hp2
HG02165.hp1
HG02273.hp1
HG02451.hp1
HG02559.hp1
HG02615.hp2
HG02723.hp2
HG02896.hp2
HG03195.hp2
HG03239.hp1
HG03491.hp2
HG04184.hp1
NA18939.hp2
NA18941.hp1
NA18949.hp1
NA18954.hp2
NA18968.hp1
NA18968.hp2
NA18973.hp1
NA18975.hp1
NA18998.hp1
NA19003.hp1
NA19010.hp2
NA19057.hp2
NA19062.hp1
NA19077.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19240.hp1
NA21309.hp2
 intron_variant MODIFIER c.70-3552_70-3550del
others(3): Show 
c.70-3552_70-3550delTAA
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 INFO_REALIGN_3_PRIME chrX 1619549
chrX:1619549
TATAATA
TATAATA
 T
T
 3 a0001c0001t0001g0076
a0001c0003t0001g0092
a0001c0003t0001g0093
a0001c0001t0001g0076
a0001c0003t0001g0092
a0001c0003t0001g0093
 3 HG00735.hp1
NA18986.hp2
NA18992.hp2
HG00735.hp1
NA18986.hp2
NA18992.hp2
 intron_variant MODIFIER c.70-3555_70-3550del
others(6): Show 
c.70-3555_70-3550delTAATAA
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 INFO_REALIGN_3_PRIME chrX 1619549
chrX:1619549
TATAATAA
others(11): Show 
TATAATAATAATAATAATA
 T
T
 2 a0001c0001t0002g0144
a0001c0001t0002g0145
a0001c0001t0002g0144
a0001c0001t0002g0145
 2 HG06807.hp2
NA18906.hp2
HG06807.hp2
NA18906.hp2
 intron_variant MODIFIER c.70-3567_70-3550del
others(18): Show 
c.70-3567_70-3550delTAATAATAATAATAATAA
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 INFO_REALIGN_3_PRIME chrX 1619549
chrX:1619587
T
T
 TAATAATA
others(2): Show 
TAATAATAAA
 3 a0001c0001t0001g0006
a0001c0001t0001g0072
a0001c0001t0001g0214
a0001c0001t0001g0006
a0001c0001t0001g0072
a0001c0001t0001g0214
 3 HG02622.hp1
HG03453.hp2
HG03540.hp1
HG02622.hp1
HG03453.hp2
HG03540.hp1
 intron_variant MODIFIER c.70-3550_70-3549ins
others(9): Show 
c.70-3550_70-3549insTAATAAAAA
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 INFO_REALIGN_3_PRIME chrX 1619587
chrX:1619590
A
A
 T
T
 7 a0001c0001t0001g0008
a0001c0001t0001g0071
a0001c0001t0001g0123
others(4): Show 
a0001c0001t0001g0008
a0001c0001t0001g0071
a0001c0001t0001g0123
a0001c0001t0001g0211
a0001c0001t0001g0215
a0001c0001t0003g0090
a0002c0002t0001g0009
 7 HG01884.hp1
HG02809.hp1
HG02818.hp2
others(4): Show 
HG01884.hp1
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG02896.hp1
HG03041.hp1
NA20129.hp1
 intron_variant MODIFIER c.70-3549A>T
c.70-3549A>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 chrX 1619590
chrX:1619591
A
A
 AAAAAAAA
others(2): Show 
AAAAAAAAGT
 7 a0001c0001t0001g0008
a0001c0001t0001g0071
a0001c0001t0001g0123
others(4): Show 
a0001c0001t0001g0008
a0001c0001t0001g0071
a0001c0001t0001g0123
a0001c0001t0001g0211
a0001c0001t0001g0215
a0001c0001t0003g0090
a0002c0002t0001g0009
 7 HG01884.hp1
HG02809.hp1
HG02818.hp2
others(4): Show 
HG01884.hp1
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG02896.hp1
HG03041.hp1
NA20129.hp1
 intron_variant MODIFIER c.70-3547_70-3546ins
others(9): Show 
c.70-3547_70-3546insAAAAAAGTA
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 INFO_REALIGN_3_PRIME chrX 1619591
chrX:1619606
G
G
 GA
GA
 20 a0001c0001t0001g0008
a0001c0001t0001g0027
a0001c0001t0001g0037
others(17): Show 
a0001c0001t0001g0008
a0001c0001t0001g0027
a0001c0001t0001g0037
a0001c0001t0001g0071
a0001c0001t0001g0081
a0001c0001t0001g0123
a0001c0001t0001g0211
a0001c0001t0001g0215
a0001c0001t0002g0140
a0001c0001t0002g0201
a0001c0001t0003g0090
a0001c0003t0001g0091
a0001c0003t0002g0142
a0002c0002t0001g0009
a0002c0002t0001g0026
a0002c0002t0001g0185
a0002c0002t0002g0131
a0002c0002t0002g0172
a0002c0006t0001g0187
a0004c0004t0001g0169
 20 HG00544.hp2
HG00597.hp2
HG01496.hp1
others(17): Show 
HG00544.hp2
HG00597.hp2
HG01496.hp1
HG01884.hp1
HG01978.hp1
HG01981.hp2
HG01993.hp1
HG02080.hp2
HG02273.hp2
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG02896.hp1
HG03041.hp1
HG03491.hp1
NA18992.hp1
NA19057.hp1
NA19064.hp1
NA19074.hp1
NA20129.hp1
 intron_variant MODIFIER c.70-3522dupA
c.70-3522dupA
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 INFO_REALIGN_3_PRIME chrX 1619606
chrX:1619606
GA
GA
 G
G
 1 a0013c0017t0001g0111
a0013c0017t0001g0111
 1 HG02523.hp1
HG02523.hp1
 intron_variant MODIFIER c.70-3522delA
c.70-3522delA
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 INFO_REALIGN_3_PRIME chrX 1619606
chrX:1619770
A
A
 C
C
 1 a0002c0002t0001g0078
a0002c0002t0001g0078
 1 HG03927.hp1
HG03927.hp1
 intron_variant MODIFIER c.70-3369A>C
c.70-3369A>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 chrX 1619770
chrX:1619770
A
A
 G
G
 7 a0001c0001t0001g0008
a0001c0001t0001g0071
a0001c0001t0001g0123
others(4): Show 
a0001c0001t0001g0008
a0001c0001t0001g0071
a0001c0001t0001g0123
a0001c0001t0001g0211
a0001c0001t0001g0215
a0001c0001t0003g0090
a0002c0002t0001g0009
 7 HG01884.hp1
HG02809.hp1
HG02818.hp2
others(4): Show 
HG01884.hp1
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG02896.hp1
HG03041.hp1
NA20129.hp1
 intron_variant MODIFIER c.70-3369A>G
c.70-3369A>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 chrX 1619770
chrX:1619857
C
C
 A
A
 3 a0001c0001t0001g0138
a0001c0003t0001g0070
a0002c0002t0001g0015
a0001c0001t0001g0138
a0001c0003t0001g0070
a0002c0002t0001g0015
 3 HG01884.hp2
HG02451.hp1
HG02896.hp2
HG01884.hp2
HG02451.hp1
HG02896.hp2
 intron_variant MODIFIER c.70-3282C>A
c.70-3282C>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 chrX 1619857
chrX:1619914
A
A
 AC
AC
 1 a0001c0003t0001g0091
a0001c0003t0001g0091
 1 HG00597.hp2
HG00597.hp2
 intron_variant MODIFIER c.70-3221dupC
c.70-3221dupC
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 INFO_REALIGN_3_PRIME chrX 1619914
chrX:1619949
C
C
 CG
CG
 1 a0005c0016t0001g0045
a0005c0016t0001g0045
 1 NA19030.hp1
NA19030.hp1
 intron_variant MODIFIER c.70-3187dupG
c.70-3187dupG
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 INFO_REALIGN_3_PRIME chrX 1619949
chrX:1619957
G
G
 GGT
GGT
 1 a0014c0018t0001g0060
a0014c0018t0001g0060
 1 NA18988.hp1
NA18988.hp1
 intron_variant MODIFIER c.70-3182_70-3181ins
others(2): Show 
c.70-3182_70-3181insGT
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 chrX 1619957
chrX:1619958
T
T
 C
C
 1 a0014c0018t0001g0060
a0014c0018t0001g0060
 1 NA18988.hp1
NA18988.hp1
 intron_variant MODIFIER c.70-3181T>C
c.70-3181T>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 chrX 1619958
chrX:1619965
CG
CG
 C
C
 1 a0014c0018t0001g0060
a0014c0018t0001g0060
 1 NA18988.hp1
NA18988.hp1
 intron_variant MODIFIER c.70-3173delG
c.70-3173delG
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 chrX 1619965
chrX:1619971
T
T
 TC
TC
 1 a0014c0018t0001g0060
a0014c0018t0001g0060
 1 NA18988.hp1
NA18988.hp1
 intron_variant MODIFIER c.70-3168_70-3167ins
others(1): Show 
c.70-3168_70-3167insC
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 chrX 1619971
chrX:1620050
A
A
 G
G
 1 a0001c0001t0001g0027
a0001c0001t0001g0027
 1 HG01978.hp1
HG01978.hp1
 intron_variant MODIFIER c.70-3089A>G
c.70-3089A>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 chrX 1620050
chrX:1620059
C
C
 T
T
 1 a0001c0003t0001g0059
a0001c0003t0001g0059
 1 NA18968.hp2
NA18968.hp2
 intron_variant MODIFIER c.70-3080C>T
c.70-3080C>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 chrX 1620059
chrX:1620103
A
A
 C
C
 1 a0001c0001t0001g0077
a0001c0001t0001g0077
 1 NA19081.hp1
NA19081.hp1
 intron_variant MODIFIER c.70-3036A>C
c.70-3036A>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 chrX 1620103
chrX:1620166
C
C
 CT
CT
 27 a0001c0001t0001g0021
a0001c0001t0001g0027
a0001c0001t0001g0046
others(24): Show 
a0001c0001t0001g0021
a0001c0001t0001g0027
a0001c0001t0001g0046
a0001c0001t0001g0076
a0001c0001t0001g0118
a0001c0001t0001g0212
a0001c0001t0002g0135
a0001c0001t0002g0141
a0001c0001t0002g0157
a0001c0003t0001g0030
a0001c0003t0001g0059
a0001c0003t0001g0094
a0001c0003t0001g0171
a0001c0003t0002g0149
a0001c0003t0002g0155
a0002c0002t0001g0018
a0002c0002t0001g0095
a0002c0002t0001g0119
a0002c0002t0002g0160
a0002c0002t0002g0163
a0002c0002t0002g0166
a0002c0002t0002g0172
a0002c0002t0002g0178
a0002c0002t0002g0188
a0002c0002t0002g0217
a0003c0009t0001g0011
a0014c0018t0001g0060
 27 HG00438.hp2
HG00597.hp1
HG00735.hp1
others(24): Show 
HG00438.hp2
HG00597.hp1
HG00735.hp1
HG00735.hp2
HG01168.hp2
HG01175.hp2
HG01891.hp2
HG01978.hp1
HG01978.hp2
HG02080.hp1
HG02109.hp2
HG02155.hp2
HG02615.hp2
HG02818.hp1
HG03195.hp1
HG03491.hp2
HG03516.hp2
HG03669.hp1
HG03834.hp1
HG04184.hp1
NA18947.hp1
NA18968.hp2
NA18977.hp2
NA18988.hp1
NA19030.hp2
NA19057.hp1
NA21309.hp2
 intron_variant MODIFIER c.70-2950dupT
c.70-2950dupT
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 INFO_REALIGN_3_PRIME chrX 1620166
chrX:1620166
C
C
 CTT
CTT
 1 a0003c0005t0001g0004
a0003c0005t0001g0004
 1 NA20300.hp2
NA20300.hp2
 intron_variant MODIFIER c.70-2951_70-2950dup
others(2): Show 
c.70-2951_70-2950dupTT
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 INFO_REALIGN_3_PRIME chrX 1620166
chrX:1620166
CT
CT
 C
C
 31 a0001c0001t0001g0005
a0001c0001t0001g0016
a0001c0001t0001g0081
others(28): Show 
a0001c0001t0001g0005
a0001c0001t0001g0016
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0209
a0001c0001t0002g0132
a0001c0001t0002g0140
a0001c0001t0002g0152
a0001c0001t0002g0164
a0001c0001t0002g0201
a0001c0001t0003g0090
a0001c0003t0002g0142
a0002c0002t0001g0002
a0002c0002t0001g0026
a0002c0002t0001g0054
a0002c0002t0001g0066
a0002c0002t0001g0085
a0002c0002t0001g0125
a0002c0002t0001g0127
a0002c0002t0001g0175
a0002c0002t0001g0185
a0002c0002t0001g0210
a0002c0002t0002g0131
a0002c0002t0002g0146
a0002c0006t0001g0187
a0004c0004t0001g0169
a0006c0011t0001g0139
a0011c0008t0001g0034
a0013c0017t0001g0111
 31 HG00544.hp2
HG00733.hp2
HG01496.hp1
others(28): Show 
HG00544.hp2
HG00733.hp2
HG01496.hp1
HG01993.hp1
HG02004.hp2
HG02080.hp2
HG02273.hp2
HG02293.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp2
HG02602.hp2
HG02630.hp1
HG02683.hp1
HG02723.hp1
HG02809.hp2
HG02818.hp2
HG02922.hp2
HG02976.hp1
HG03453.hp1
HG03491.hp1
HG03704.hp1
HG04204.hp2
NA18947.hp2
NA18974.hp1
NA18980.hp2
NA18992.hp1
NA19064.hp1
NA19074.hp1
NA19081.hp2
NA19240.hp2
 intron_variant MODIFIER c.70-2950delT
c.70-2950delT
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 INFO_REALIGN_3_PRIME chrX 1620166
chrX:1620166
CTT
CTT
 C
C
 2 a0002c0002t0002g0136
a0010c0015t0002g0179
a0002c0002t0002g0136
a0010c0015t0002g0179
 2 HG03486.hp1
NA19072.hp2
HG03486.hp1
NA19072.hp2
 intron_variant MODIFIER c.70-2951_70-2950del
others(2): Show 
c.70-2951_70-2950delTT
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 INFO_REALIGN_3_PRIME chrX 1620166
chrX:1620166
CTTTT
CTTTT
 C
C
 3 a0002c0002t0001g0122
a0002c0010t0001g0010
a0005c0016t0001g0045
a0002c0002t0001g0122
a0002c0010t0001g0010
a0005c0016t0001g0045
 3 HG02622.hp2
HG03540.hp2
NA19030.hp1
HG02622.hp2
HG03540.hp2
NA19030.hp1
 intron_variant MODIFIER c.70-2953_70-2950del
others(4): Show 
c.70-2953_70-2950delTTTT
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 INFO_REALIGN_3_PRIME chrX 1620166
chrX:1620244
T
T
 C
C
 4 a0001c0001t0001g0007
a0001c0001t0001g0012
a0001c0001t0001g0046
others(1): Show 
a0001c0001t0001g0007
a0001c0001t0001g0012
a0001c0001t0001g0046
a0001c0001t0001g0118
 4 HG02109.hp2
HG02257.hp1
HG02630.hp2
others(1): Show 
HG02109.hp2
HG02257.hp1
HG02630.hp2
HG02818.hp1
 intron_variant MODIFIER c.70-2895T>C
c.70-2895T>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 chrX 1620244
chrX:1620245
C
C
 T
T
 4 a0001c0001t0001g0007
a0001c0001t0001g0012
a0001c0001t0001g0046
others(1): Show 
a0001c0001t0001g0007
a0001c0001t0001g0012
a0001c0001t0001g0046
a0001c0001t0001g0118
 4 HG02109.hp2
HG02257.hp1
HG02630.hp2
others(1): Show 
HG02109.hp2
HG02257.hp1
HG02630.hp2
HG02818.hp1
 intron_variant MODIFIER c.70-2894C>T
c.70-2894C>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 chrX 1620245
chrX:1620271
A
A
 AG
AG
 1 a0014c0018t0001g0060
a0014c0018t0001g0060
 1 NA18988.hp1
NA18988.hp1
 intron_variant MODIFIER c.70-2866dupG
c.70-2866dupG
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 INFO_REALIGN_3_PRIME chrX 1620271
chrX:1620336
T
T
 G
G
 2 a0002c0002t0001g0122
a0005c0016t0001g0045
a0002c0002t0001g0122
a0005c0016t0001g0045
 2 HG03540.hp2
NA19030.hp1
HG03540.hp2
NA19030.hp1
 intron_variant MODIFIER c.70-2803T>G
c.70-2803T>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 chrX 1620336
chrX:1620587
A
A
 G
G
 1 a0002c0002t0001g0015
a0002c0002t0001g0015
 1 HG02896.hp2
HG02896.hp2
 intron_variant MODIFIER c.70-2552A>G
c.70-2552A>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 chrX 1620587
chrX:1620591
A
A
 T
T
 3 a0001c0001t0001g0006
a0001c0001t0001g0072
a0001c0001t0001g0214
a0001c0001t0001g0006
a0001c0001t0001g0072
a0001c0001t0001g0214
 3 HG02622.hp1
HG03453.hp2
HG03540.hp1
HG02622.hp1
HG03453.hp2
HG03540.hp1
 intron_variant MODIFIER c.70-2548A>T
c.70-2548A>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 chrX 1620591
chrX:1620662
A
A
 AG
AG
 1 a0002c0002t0001g0222
a0002c0002t0001g0222
 1 NA18939.hp2
NA18939.hp2
 intron_variant MODIFIER c.70-2476dupG
c.70-2476dupG
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 INFO_REALIGN_3_PRIME chrX 1620662
chrX:1620744
C
C
 T
T
 4 a0001c0001t0001g0017
a0001c0001t0001g0019
a0001c0001t0001g0021
others(1): Show 
a0001c0001t0001g0017
a0001c0001t0001g0019
a0001c0001t0001g0021
a0002c0002t0001g0020
 4 HG00741.hp2
HG02280.hp1
HG03195.hp1
others(1): Show 
HG00741.hp2
HG02280.hp1
HG03195.hp1
NA20300.hp1
 intron_variant MODIFIER c.70-2395C>T
c.70-2395C>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 chrX 1620744
chrX:1620752
G
G
 T
T
 21 a0001c0001t0001g0049
a0001c0001t0001g0056
a0001c0001t0001g0138
others(18): Show 
a0001c0001t0001g0049
a0001c0001t0001g0056
a0001c0001t0001g0138
a0001c0001t0002g0039
a0001c0001t0002g0141
a0001c0001t0002g0168
a0001c0001t0002g0170
a0001c0003t0001g0050
a0001c0003t0001g0070
a0001c0003t0001g0171
a0001c0003t0002g0149
a0002c0002t0001g0015
a0002c0002t0001g0057
a0002c0002t0001g0089
a0002c0002t0001g0095
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0124
a0002c0002t0002g0096
a0002c0002t0002g0154
a0002c0002t0002g0166
 21 HG00323.hp1
HG00438.hp2
HG00639.hp1
others(18): Show 
HG00323.hp1
HG00438.hp2
HG00639.hp1
HG00639.hp2
HG00733.hp1
HG01361.hp1
HG01361.hp2
HG01516.hp1
HG01517.hp1
HG01884.hp2
HG02080.hp1
HG02155.hp2
HG02165.hp1
HG02451.hp1
HG02896.hp2
HG03491.hp2
HG04184.hp2
NA18975.hp1
NA18998.hp1
NA19080.hp1
NA21309.hp2
 intron_variant MODIFIER c.70-2387G>T
c.70-2387G>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 chrX 1620752
chrX:1620837
C
C
 G
G
 3 a0001c0001t0001g0028
a0001c0003t0001g0030
a0001c0003t0001g0113
a0001c0001t0001g0028
a0001c0003t0001g0030
a0001c0003t0001g0113
 3 NA18947.hp1
NA18956.hp1
NA18999.hp1
NA18947.hp1
NA18956.hp1
NA18999.hp1
 intron_variant MODIFIER c.70-2302C>G
c.70-2302C>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 chrX 1620837
chrX:1620926
C
C
 A
A
 2 a0001c0001t0001g0001
a0001c0001t0001g0158
a0001c0001t0001g0001
a0001c0001t0001g0158
 3 HG02559.hp1
HG03195.hp2
NA19240.hp1
HG02559.hp1
HG03195.hp2
NA19240.hp1
 intron_variant MODIFIER c.70-2213C>A
c.70-2213C>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 chrX 1620926
chrX:1620927
C
C
 CA
CA
 58 a0001c0001t0001g0007
a0001c0001t0001g0012
a0001c0001t0001g0014
others(55): Show 
a0001c0001t0001g0007
a0001c0001t0001g0012
a0001c0001t0001g0014
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0019
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0053
a0001c0001t0001g0063
a0001c0001t0001g0079
a0001c0001t0001g0082
a0001c0001t0001g0097
a0001c0001t0001g0118
a0001c0001t0001g0174
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0209
a0001c0001t0002g0134
a0001c0001t0002g0176
a0001c0001t0002g0180
a0001c0001t0002g0184
a0001c0001t0002g0196
a0001c0001t0002g0200
a0001c0001t0002g0218
a0001c0003t0001g0013
a0001c0003t0001g0022
a0001c0003t0001g0062
a0001c0003t0001g0080
a0001c0003t0001g0219
a0001c0003t0002g0133
a0001c0003t0002g0155
a0002c0002t0001g0002
a0002c0002t0001g0020
a0002c0002t0001g0042
a0002c0002t0001g0044
a0002c0002t0001g0069
a0002c0002t0001g0074
a0002c0002t0001g0098
a0002c0002t0001g0189
a0002c0002t0001g0208
a0002c0002t0001g0210
a0002c0002t0001g0220
a0002c0002t0001g0221
a0002c0002t0001g0222
a0002c0002t0002g0159
a0002c0002t0002g0160
a0002c0002t0002g0178
a0002c0002t0002g0181
a0002c0002t0002g0191
a0002c0002t0002g0198
a0002c0002t0002g0199
a0002c0002t0002g0216
a0003c0005t0001g0202
a0011c0008t0001g0034
a0014c0018t0001g0060
 58 HG00099.hp2
HG00741.hp1
HG00741.hp2
others(55): Show 
HG00099.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01081.hp2
HG01123.hp1
HG01123.hp2
HG01256.hp1
HG01257.hp1
HG01257.hp2
HG01346.hp1
HG01516.hp2
HG01517.hp2
HG01891.hp1
HG01975.hp1
HG01978.hp2
HG01993.hp2
HG02109.hp1
HG02109.hp2
HG02148.hp1
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02523.hp2
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02723.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp2
HG02922.hp1
HG02922.hp2
HG02976.hp1
HG03453.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG06807.hp1
NA18906.hp1
NA18939.hp2
NA18942.hp2
NA18950.hp2
NA18955.hp1
NA18969.hp2
NA18977.hp2
NA18988.hp1
NA18998.hp2
NA19064.hp2
NA19065.hp1
NA19077.hp1
NA19085.hp1
NA20300.hp1
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.70-2202dupA
c.70-2202dupA
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 INFO_REALIGN_3_PRIME chrX 1620927
chrX:1620927
C
C
 CAA
CAA
 29 a0001c0001t0001g0001
a0001c0001t0001g0005
a0001c0001t0001g0061
others(26): Show 
a0001c0001t0001g0001
a0001c0001t0001g0005
a0001c0001t0001g0061
a0001c0001t0001g0068
a0001c0001t0001g0084
a0001c0001t0001g0086
a0001c0001t0001g0100
a0001c0001t0001g0102
a0001c0001t0001g0103
a0001c0001t0001g0158
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0212
a0001c0001t0002g0164
a0001c0001t0005g0165
a0001c0003t0001g0023
a0001c0003t0001g0038
a0001c0003t0002g0173
a0002c0002t0001g0003
a0002c0002t0001g0031
a0002c0002t0001g0054
a0002c0002t0001g0085
a0002c0002t0001g0130
a0002c0002t0002g0136
a0002c0002t0002g0162
a0002c0002t0002g0163
a0003c0009t0001g0011
a0008c0013t0001g0101
a0013c0017t0001g0111
 30 HG00423.hp2
HG00438.hp1
HG00597.hp1
others(27): Show 
HG00423.hp2
HG00438.hp1
HG00597.hp1
HG01175.hp1
HG01346.hp2
HG01891.hp2
HG01981.hp1
HG02004.hp1
HG02273.hp1
HG02523.hp1
HG02559.hp1
HG02602.hp2
HG03195.hp2
HG03486.hp1
NA18939.hp1
NA18947.hp2
NA18949.hp2
NA18950.hp1
NA18951.hp2
NA18956.hp2
NA18974.hp1
NA18980.hp2
NA19002.hp1
NA19003.hp2
NA19010.hp1
NA19030.hp2
NA19065.hp2
NA19074.hp2
NA19081.hp2
NA19240.hp1
 intron_variant MODIFIER c.70-2203_70-2202dup
others(2): Show 
c.70-2203_70-2202dupAA
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 INFO_REALIGN_3_PRIME chrX 1620927
chrX:1620927
C
C
 CAAA
CAAA
 3 a0001c0001t0001g0006
a0001c0001t0001g0072
a0001c0001t0001g0214
a0001c0001t0001g0006
a0001c0001t0001g0072
a0001c0001t0001g0214
 3 HG02622.hp1
HG03453.hp2
HG03540.hp1
HG02622.hp1
HG03453.hp2
HG03540.hp1
 intron_variant MODIFIER c.70-2204_70-2202dup
others(3): Show 
c.70-2204_70-2202dupAAA
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 INFO_REALIGN_3_PRIME chrX 1620927
chrX:1620996
TG
TG
 T
T
 1 a0002c0002t0001g0222
a0002c0002t0001g0222
 1 NA18939.hp2
NA18939.hp2
 intron_variant MODIFIER c.70-2139delG
c.70-2139delG
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 INFO_REALIGN_3_PRIME chrX 1620996
chrX:1621037
C
C
 A
A
 71 a0001c0001t0001g0006
a0001c0001t0001g0007
a0001c0001t0001g0012
others(68): Show 
a0001c0001t0001g0006
a0001c0001t0001g0007
a0001c0001t0001g0012
a0001c0001t0001g0014
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0019
a0001c0001t0001g0021
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0053
a0001c0001t0001g0061
a0001c0001t0001g0063
a0001c0001t0001g0072
a0001c0001t0001g0079
a0001c0001t0001g0082
a0001c0001t0001g0097
a0001c0001t0001g0100
a0001c0001t0001g0102
a0001c0001t0001g0103
a0001c0001t0001g0118
a0001c0001t0001g0174
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0209
a0001c0001t0001g0212
a0001c0001t0001g0214
a0001c0001t0002g0176
a0001c0001t0002g0180
a0001c0001t0002g0196
a0001c0001t0002g0200
a0001c0001t0002g0218
a0001c0003t0001g0013
a0001c0003t0001g0022
a0001c0003t0001g0038
a0001c0003t0001g0062
a0001c0003t0001g0080
a0001c0003t0001g0219
a0001c0003t0002g0133
a0001c0003t0002g0155
a0001c0003t0002g0173
a0002c0002t0001g0002
a0002c0002t0001g0003
a0002c0002t0001g0020
a0002c0002t0001g0042
a0002c0002t0001g0044
a0002c0002t0001g0069
a0002c0002t0001g0130
a0002c0002t0001g0189
a0002c0002t0001g0208
a0002c0002t0001g0210
a0002c0002t0001g0220
a0002c0002t0001g0221
a0002c0002t0002g0159
a0002c0002t0002g0160
a0002c0002t0002g0162
a0002c0002t0002g0163
a0002c0002t0002g0178
a0002c0002t0002g0181
a0002c0002t0002g0191
a0002c0002t0002g0198
a0002c0002t0002g0199
a0002c0002t0002g0216
a0003c0005t0001g0202
a0008c0013t0001g0101
a0011c0008t0001g0034
a0014c0018t0001g0060
 71 HG00099.hp2
HG00423.hp2
HG00438.hp1
others(68): Show 
HG00099.hp2
HG00423.hp2
HG00438.hp1
HG00597.hp1
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01081.hp2
HG01123.hp1
HG01123.hp2
HG01256.hp1
HG01257.hp1
HG01257.hp2
HG01516.hp2
HG01517.hp2
HG01891.hp1
HG01891.hp2
HG01975.hp1
HG01978.hp2
HG01981.hp1
HG01993.hp2
HG02109.hp1
HG02109.hp2
HG02148.hp1
HG02257.hp1
HG02280.hp1
HG02451.hp2
HG02523.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02723.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp2
HG02922.hp1
HG02922.hp2
HG02976.hp1
HG03195.hp1
HG03453.hp1
HG03453.hp2
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG06807.hp1
NA18906.hp1
NA18939.hp1
NA18942.hp2
NA18949.hp2
NA18950.hp2
NA18951.hp2
NA18955.hp1
NA18956.hp2
NA18969.hp2
NA18977.hp2
NA18988.hp1
NA18998.hp2
NA19002.hp1
NA19003.hp2
NA19010.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19074.hp2
NA19077.hp1
NA19085.hp1
NA20300.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.70-2102C>A
c.70-2102C>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 chrX 1621037
chrX:1621083
G
G
 A
A
 3 a0001c0001t0001g0006
a0001c0001t0001g0072
a0001c0001t0001g0214
a0001c0001t0001g0006
a0001c0001t0001g0072
a0001c0001t0001g0214
 3 HG02622.hp1
HG03453.hp2
HG03540.hp1
HG02622.hp1
HG03453.hp2
HG03540.hp1
 intron_variant MODIFIER c.70-2056G>A
c.70-2056G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 chrX 1621083
chrX:1621088
T
T
 TC
TC
 1 a0014c0018t0001g0060
a0014c0018t0001g0060
 1 NA18988.hp1
NA18988.hp1
 intron_variant MODIFIER c.70-2049dupC
c.70-2049dupC
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 INFO_REALIGN_3_PRIME chrX 1621088
chrX:1621146
TC
TC
 T
T
 1 a0002c0002t0001g0222
a0002c0002t0001g0222
 1 NA18939.hp2
NA18939.hp2
 intron_variant MODIFIER c.70-1989delC
c.70-1989delC
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 INFO_REALIGN_3_PRIME chrX 1621146
chrX:1621193
C
C
 T
T
 2 a0002c0002t0001g0175
a0006c0011t0001g0139
a0002c0002t0001g0175
a0006c0011t0001g0139
 2 HG02559.hp2
NA19240.hp2
HG02559.hp2
NA19240.hp2
 intron_variant MODIFIER c.70-1946C>T
c.70-1946C>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 chrX 1621193
chrX:1621234
A
A
 C
C
 5 a0001c0001t0001g0068
a0001c0001t0005g0165
a0001c0003t0001g0023
others(2): Show 
a0001c0001t0001g0068
a0001c0001t0005g0165
a0001c0003t0001g0023
a0002c0002t0001g0031
a0013c0017t0001g0111
 5 HG01175.hp1
HG01346.hp2
HG02004.hp1
others(2): Show 
HG01175.hp1
HG01346.hp2
HG02004.hp1
HG02273.hp1
HG02523.hp1
 intron_variant MODIFIER c.70-1905A>C
c.70-1905A>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 chrX 1621234
chrX:1621238
C
C
 T
T
 1 a0007c0012t0001g0109
a0007c0012t0001g0109
 1 NA18963.hp1
NA18963.hp1
 intron_variant MODIFIER c.70-1901C>T
c.70-1901C>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 chrX 1621238
chrX:1621291
GA
GA
 G
G
 1 a0014c0018t0001g0060
a0014c0018t0001g0060
 1 NA18988.hp1
NA18988.hp1
 intron_variant MODIFIER c.70-1844delA
c.70-1844delA
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 INFO_REALIGN_3_PRIME chrX 1621291
chrX:1621325
A
A
 AT
AT
 1 a0005c0016t0001g0045
a0005c0016t0001g0045
 1 NA19030.hp1
NA19030.hp1
 intron_variant MODIFIER c.70-1804dupT
c.70-1804dupT
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 INFO_REALIGN_3_PRIME chrX 1621325
chrX:1621325
AT
AT
 A
A
 1 a0002c0002t0001g0222
a0002c0002t0001g0222
 1 NA18939.hp2
NA18939.hp2
 intron_variant MODIFIER c.70-1804delT
c.70-1804delT
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 INFO_REALIGN_3_PRIME chrX 1621325
chrX:1621381
G
G
 A
A
 3 a0001c0001t0001g0006
a0001c0001t0001g0072
a0001c0001t0001g0214
a0001c0001t0001g0006
a0001c0001t0001g0072
a0001c0001t0001g0214
 3 HG02622.hp1
HG03453.hp2
HG03540.hp1
HG02622.hp1
HG03453.hp2
HG03540.hp1
 intron_variant MODIFIER c.70-1758G>A
c.70-1758G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 chrX 1621381
chrX:1621400
CT
CT
 C
C
 1 a0002c0002t0001g0222
a0002c0002t0001g0222
 1 NA18939.hp2
NA18939.hp2
 intron_variant MODIFIER c.70-1738delT
c.70-1738delT
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 chrX 1621400
chrX:1621466
C
C
 CG
CG
 1 a0014c0018t0001g0060
a0014c0018t0001g0060
 1 NA18988.hp1
NA18988.hp1
 intron_variant MODIFIER c.70-1673_70-1672ins
others(1): Show 
c.70-1673_70-1672insG
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 chrX 1621466
chrX:1621484
A
A
 AT
AT
 1 a0014c0018t0001g0060
a0014c0018t0001g0060
 1 NA18988.hp1
NA18988.hp1
 intron_variant MODIFIER c.70-1650dupT
c.70-1650dupT
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 INFO_REALIGN_3_PRIME chrX 1621484
chrX:1621558
T
T
 TA
TA
 1 a0014c0018t0001g0060
a0014c0018t0001g0060
 1 NA18988.hp1
NA18988.hp1
 intron_variant MODIFIER c.70-1581_70-1580ins
others(1): Show 
c.70-1581_70-1580insA
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 chrX 1621558
chrX:1621569
C
C
 T
T
 7 a0001c0001t0001g0008
a0001c0001t0001g0071
a0001c0001t0001g0123
others(4): Show 
a0001c0001t0001g0008
a0001c0001t0001g0071
a0001c0001t0001g0123
a0001c0001t0001g0211
a0001c0001t0001g0215
a0001c0001t0003g0090
a0002c0002t0001g0009
 7 HG01884.hp1
HG02809.hp1
HG02818.hp2
others(4): Show 
HG01884.hp1
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG02896.hp1
HG03041.hp1
NA20129.hp1
 intron_variant MODIFIER c.70-1570C>T
c.70-1570C>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 chrX 1621569
chrX:1621788
CG
CG
 C
C
 1 a0014c0018t0001g0060
a0014c0018t0001g0060
 1 NA18988.hp1
NA18988.hp1
 intron_variant MODIFIER c.70-1348delG
c.70-1348delG
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 INFO_REALIGN_3_PRIME chrX 1621788
chrX:1621793
G
G
 A
A
 1 a0002c0002t0001g0125
a0002c0002t0001g0125
 1 HG00733.hp2
HG00733.hp2
 intron_variant MODIFIER c.70-1346G>A
c.70-1346G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 chrX 1621793
chrX:1621843
G
G
 GCA
GCA
 1 a0014c0018t0001g0060
a0014c0018t0001g0060
 1 NA18988.hp1
NA18988.hp1
 intron_variant MODIFIER c.70-1294_70-1293dup
others(2): Show 
c.70-1294_70-1293dupAC
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 INFO_REALIGN_3_PRIME chrX 1621843
chrX:1621893
G
G
 C
C
 180 a0001c0001t0001g0001
a0001c0001t0001g0005
a0001c0001t0001g0006
others(177): Show 
a0001c0001t0001g0001
a0001c0001t0001g0005
a0001c0001t0001g0006
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0012
a0001c0001t0001g0014
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0019
a0001c0001t0001g0021
a0001c0001t0001g0027
a0001c0001t0001g0029
a0001c0001t0001g0035
a0001c0001t0001g0037
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0053
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0061
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0068
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0079
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0086
a0001c0001t0001g0097
a0001c0001t0001g0100
a0001c0001t0001g0102
a0001c0001t0001g0103
a0001c0001t0001g0118
a0001c0001t0001g0123
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0158
a0001c0001t0001g0174
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0209
a0001c0001t0001g0211
a0001c0001t0001g0212
a0001c0001t0001g0214
a0001c0001t0001g0215
a0001c0001t0002g0039
a0001c0001t0002g0120
a0001c0001t0002g0132
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0002g0140
a0001c0001t0002g0141
a0001c0001t0002g0144
a0001c0001t0002g0145
a0001c0001t0002g0147
a0001c0001t0002g0153
a0001c0001t0002g0161
a0001c0001t0002g0164
a0001c0001t0002g0167
a0001c0001t0002g0168
a0001c0001t0002g0170
a0001c0001t0002g0176
a0001c0001t0002g0180
a0001c0001t0002g0184
a0001c0001t0002g0190
a0001c0001t0002g0196
a0001c0001t0002g0200
a0001c0001t0002g0201
a0001c0001t0002g0218
a0001c0001t0003g0090
a0001c0001t0005g0165
a0001c0003t0001g0013
a0001c0003t0001g0022
a0001c0003t0001g0023
a0001c0003t0001g0038
a0001c0003t0001g0050
a0001c0003t0001g0051
a0001c0003t0001g0059
a0001c0003t0001g0062
a0001c0003t0001g0070
a0001c0003t0001g0080
a0001c0003t0001g0091
a0001c0003t0001g0094
a0001c0003t0001g0107
a0001c0003t0001g0171
a0001c0003t0001g0219
a0001c0003t0002g0133
a0001c0003t0002g0142
a0001c0003t0002g0149
a0001c0003t0002g0150
a0001c0003t0002g0155
a0001c0003t0002g0173
a0001c0003t0002g0182
a0002c0002t0001g0002
a0002c0002t0001g0003
a0002c0002t0001g0009
a0002c0002t0001g0015
a0002c0002t0001g0020
a0002c0002t0001g0026
a0002c0002t0001g0031
a0002c0002t0001g0042
a0002c0002t0001g0044
a0002c0002t0001g0054
a0002c0002t0001g0057
a0002c0002t0001g0066
a0002c0002t0001g0069
a0002c0002t0001g0073
a0002c0002t0001g0074
a0002c0002t0001g0085
a0002c0002t0001g0089
a0002c0002t0001g0095
a0002c0002t0001g0099
a0002c0002t0001g0108
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0122
a0002c0002t0001g0124
a0002c0002t0001g0125
a0002c0002t0001g0127
a0002c0002t0001g0129
a0002c0002t0001g0130
a0002c0002t0001g0151
a0002c0002t0001g0175
a0002c0002t0001g0185
a0002c0002t0001g0189
a0002c0002t0001g0208
a0002c0002t0001g0210
a0002c0002t0001g0220
a0002c0002t0001g0221
a0002c0002t0001g0222
a0002c0002t0002g0096
a0002c0002t0002g0112
a0002c0002t0002g0131
a0002c0002t0002g0146
a0002c0002t0002g0154
a0002c0002t0002g0156
a0002c0002t0002g0159
a0002c0002t0002g0160
a0002c0002t0002g0162
a0002c0002t0002g0163
a0002c0002t0002g0166
a0002c0002t0002g0172
a0002c0002t0002g0178
a0002c0002t0002g0181
a0002c0002t0002g0186
a0002c0002t0002g0188
a0002c0002t0002g0191
a0002c0002t0002g0198
a0002c0002t0002g0199
a0002c0002t0002g0207
a0002c0002t0002g0213
a0002c0002t0002g0216
a0002c0006t0001g0187
a0002c0010t0001g0010
a0003c0005t0001g0202
a0003c0009t0001g0011
a0004c0004t0001g0169
a0004c0004t0004g0148
a0005c0016t0001g0045
a0006c0011t0001g0139
a0008c0013t0001g0101
a0010c0015t0002g0179
a0011c0008t0001g0034
a0013c0017t0001g0111
a0014c0018t0001g0060
 181 HG00099.hp1
HG00099.hp2
HG00323.hp1
others(178): Show 
HG00099.hp1
HG00099.hp2
HG00323.hp1
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp2
HG00597.hp1
HG00597.hp2
HG00639.hp1
HG00639.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01081.hp2
HG01123.hp1
HG01123.hp2
HG01175.hp1
HG01256.hp1
HG01257.hp1
HG01257.hp2
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01496.hp1
HG01496.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01975.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02683.hp1
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02976.hp1
HG03041.hp1
HG03195.hp1
HG03195.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03486.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03669.hp1
HG03831.hp2
HG03927.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp1
NA18942.hp2
NA18947.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18956.hp2
NA18963.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp2
NA18973.hp1
NA18974.hp1
NA18975.hp1
NA18975.hp2
NA18977.hp2
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18985.hp1
NA18988.hp1
NA18992.hp1
NA18998.hp1
NA18998.hp2
NA18999.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19057.hp1
NA19057.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19072.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19085.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.70-1246G>C
c.70-1246G>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 chrX 1621893
chrX:1621941
T
T
 G
G
 2 a0002c0002t0001g0175
a0006c0011t0001g0139
a0002c0002t0001g0175
a0006c0011t0001g0139
 2 HG02559.hp2
NA19240.hp2
HG02559.hp2
NA19240.hp2
 intron_variant MODIFIER c.70-1198T>G
c.70-1198T>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 chrX 1621941
chrX:1621952
C
C
 CA
CA
 1 a0014c0018t0001g0060
a0014c0018t0001g0060
 1 NA18988.hp1
NA18988.hp1
 intron_variant MODIFIER c.70-1187_70-1186ins
others(1): Show 
c.70-1187_70-1186insA
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 chrX 1621952
chrX:1621979
G
G
 A
A
 3 a0001c0001t0002g0196
a0002c0002t0002g0181
a0002c0002t0002g0216
a0001c0001t0002g0196
a0002c0002t0002g0181
a0002c0002t0002g0216
 3 HG00099.hp2
HG01123.hp1
homoSapiens_chm13v2.hp1
HG00099.hp2
HG01123.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.70-1160G>A
c.70-1160G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 chrX 1621979
chrX:1621990
CG
CG
 C
C
 1 a0001c0003t0001g0091
a0001c0003t0001g0091
 1 HG00597.hp2
HG00597.hp2
 intron_variant MODIFIER c.70-1147delG
c.70-1147delG
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 INFO_REALIGN_3_PRIME chrX 1621990
chrX:1621998
T
T
 TA
TA
 1 a0014c0018t0001g0060
a0014c0018t0001g0060
 1 NA18988.hp1
NA18988.hp1
 intron_variant MODIFIER c.70-1141_70-1140ins
others(1): Show 
c.70-1141_70-1140insA
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 chrX 1621998
chrX:1622005
T
T
 TTATTTTG
others(7): Show 
TTATTTTGTTTTGGG
 1 a0014c0018t0001g0060
a0014c0018t0001g0060
 1 NA18988.hp1
NA18988.hp1
 intron_variant MODIFIER c.70-1133_70-1132ins
others(14): Show 
c.70-1133_70-1132insATTTTGTTTTGGGT
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 INFO_REALIGN_3_PRIME chrX 1622005
chrX:1622081
C
C
 T
T
 1 a0014c0018t0001g0060
a0014c0018t0001g0060
 1 NA18988.hp1
NA18988.hp1
 intron_variant MODIFIER c.70-1058C>T
c.70-1058C>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 chrX 1622081
chrX:1622082
T
T
 C
C
 1 a0014c0018t0001g0060
a0014c0018t0001g0060
 1 NA18988.hp1
NA18988.hp1
 intron_variant MODIFIER c.70-1057T>C
c.70-1057T>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 chrX 1622082
chrX:1622161
T
T
 G
G
 1 a0014c0018t0001g0060
a0014c0018t0001g0060
 1 NA18988.hp1
NA18988.hp1
 intron_variant MODIFIER c.70-978T>G
c.70-978T>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 chrX 1622161
chrX:1622166
A
A
 AT
AT
 1 a0014c0018t0001g0060
a0014c0018t0001g0060
 1 NA18988.hp1
NA18988.hp1
 intron_variant MODIFIER c.70-968dupT
c.70-968dupT
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 INFO_REALIGN_3_PRIME chrX 1622166
chrX:1622228
G
G
 GT
GT
 1 a0014c0018t0001g0060
a0014c0018t0001g0060
 1 NA18988.hp1
NA18988.hp1
 intron_variant MODIFIER c.70-910dupT
c.70-910dupT
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 INFO_REALIGN_3_PRIME chrX 1622228
chrX:1622259
TG
TG
 T
T
 1 a0014c0018t0001g0060
a0014c0018t0001g0060
 1 NA18988.hp1
NA18988.hp1
 intron_variant MODIFIER c.70-877delG
c.70-877delG
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 INFO_REALIGN_3_PRIME chrX 1622259
chrX:1622272
G
G
 A
A
 1 a0001c0001t0002g0184
a0001c0001t0002g0184
 1 HG02280.hp2
HG02280.hp2
 intron_variant MODIFIER c.70-867G>A
c.70-867G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 chrX 1622272
chrX:1622288
G
G
 A
A
 50 a0001c0001t0001g0007
a0001c0001t0001g0012
a0001c0001t0001g0046
others(47): Show 
a0001c0001t0001g0007
a0001c0001t0001g0012
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0053
a0001c0001t0001g0061
a0001c0001t0001g0063
a0001c0001t0001g0079
a0001c0001t0001g0082
a0001c0001t0001g0097
a0001c0001t0001g0100
a0001c0001t0001g0102
a0001c0001t0001g0103
a0001c0001t0001g0118
a0001c0001t0001g0174
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0212
a0001c0001t0002g0134
a0001c0001t0002g0180
a0001c0001t0002g0196
a0001c0001t0002g0200
a0001c0001t0002g0218
a0001c0003t0001g0013
a0001c0003t0001g0062
a0001c0003t0001g0080
a0001c0003t0001g0219
a0001c0003t0002g0133
a0001c0003t0002g0155
a0001c0003t0002g0173
a0002c0002t0001g0003
a0002c0002t0001g0042
a0002c0002t0001g0044
a0002c0002t0001g0074
a0002c0002t0001g0130
a0002c0002t0001g0220
a0002c0002t0001g0221
a0002c0002t0002g0162
a0002c0002t0002g0163
a0002c0002t0002g0178
a0002c0002t0002g0181
a0002c0002t0002g0191
a0002c0002t0002g0198
a0002c0002t0002g0199
a0002c0002t0002g0216
a0003c0005t0001g0202
a0008c0013t0001g0101
a0011c0008t0001g0034
a0014c0018t0001g0060
 50 HG00099.hp2
HG00423.hp2
HG00438.hp1
others(47): Show 
HG00099.hp2
HG00423.hp2
HG00438.hp1
HG00597.hp1
HG00741.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01081.hp2
HG01123.hp1
HG01123.hp2
HG01256.hp1
HG01257.hp1
HG01257.hp2
HG01516.hp2
HG01517.hp2
HG01891.hp2
HG01975.hp1
HG01978.hp2
HG01981.hp1
HG01993.hp2
HG02109.hp2
HG02148.hp1
HG02257.hp1
HG02523.hp2
HG02615.hp1
HG02630.hp2
HG02818.hp1
HG02922.hp1
HG03486.hp2
NA18939.hp1
NA18942.hp2
NA18949.hp2
NA18950.hp2
NA18951.hp2
NA18955.hp1
NA18956.hp2
NA18977.hp2
NA18988.hp1
NA18998.hp2
NA19002.hp1
NA19003.hp2
NA19010.hp1
NA19064.hp2
NA19065.hp1
NA19074.hp2
NA19077.hp1
NA19085.hp1
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.70-851G>A
c.70-851G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 chrX 1622288
chrX:1622318
C
C
 CT
CT
 1 a0014c0018t0001g0060
a0014c0018t0001g0060
 1 NA18988.hp1
NA18988.hp1
 intron_variant MODIFIER c.70-819dupT
c.70-819dupT
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 INFO_REALIGN_3_PRIME chrX 1622318
chrX:1622345
C
C
 CA
CA
 2 a0001c0001t0002g0144
a0001c0001t0002g0145
a0001c0001t0002g0144
a0001c0001t0002g0145
 2 HG06807.hp2
NA18906.hp2
HG06807.hp2
NA18906.hp2
 intron_variant MODIFIER c.70-793dupA
c.70-793dupA
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 INFO_REALIGN_3_PRIME chrX 1622345
chrX:1622360
G
G
 A
A
 1 a0001c0001t0001g0016
a0001c0001t0001g0016
 1 HG02922.hp2
HG02922.hp2
 intron_variant MODIFIER c.70-779G>A
c.70-779G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 chrX 1622360
chrX:1622360
G
G
 C
C
 1 a0001c0001t0001g0203
a0001c0001t0001g0203
 1 HG02451.hp2
HG02451.hp2
 intron_variant MODIFIER c.70-779G>C
c.70-779G>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 chrX 1622360
chrX:1622376
C
C
 T
T
 3 a0001c0001t0002g0039
a0001c0001t0002g0167
a0001c0001t0002g0176
a0001c0001t0002g0039
a0001c0001t0002g0167
a0001c0001t0002g0176
 3 HG02165.hp1
NA18969.hp2
NA18975.hp2
HG02165.hp1
NA18969.hp2
NA18975.hp2
 intron_variant MODIFIER c.70-763C>T
c.70-763C>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 chrX 1622376
chrX:1622393
C
C
 A
A
 13 a0001c0001t0001g0037
a0001c0001t0001g0081
a0001c0001t0002g0140
others(10): Show 
a0001c0001t0001g0037
a0001c0001t0001g0081
a0001c0001t0002g0140
a0001c0001t0002g0141
a0001c0001t0002g0201
a0001c0003t0001g0091
a0001c0003t0002g0142
a0002c0002t0001g0026
a0002c0002t0001g0185
a0002c0002t0002g0131
a0002c0006t0001g0187
a0004c0004t0001g0169
a0010c0015t0002g0179
 13 HG00544.hp2
HG00597.hp2
HG01496.hp1
others(10): Show 
HG00544.hp2
HG00597.hp2
HG01496.hp1
HG01981.hp2
HG01993.hp1
HG02080.hp2
HG02273.hp2
HG03491.hp1
HG03491.hp2
NA18992.hp1
NA19064.hp1
NA19072.hp2
NA19074.hp1
 intron_variant MODIFIER c.70-746C>A
c.70-746C>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 chrX 1622393
chrX:1622448
G
G
 GC
GC
 1 a0005c0016t0001g0045
a0005c0016t0001g0045
 1 NA19030.hp1
NA19030.hp1
 intron_variant MODIFIER c.70-688dupC
c.70-688dupC
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 INFO_REALIGN_3_PRIME chrX 1622448
chrX:1622451
C
C
 T
T
 20 a0001c0001t0001g0049
a0001c0001t0001g0056
a0001c0001t0001g0138
others(17): Show 
a0001c0001t0001g0049
a0001c0001t0001g0056
a0001c0001t0001g0138
a0001c0001t0002g0039
a0001c0001t0002g0167
a0001c0001t0002g0168
a0001c0001t0002g0170
a0001c0001t0002g0176
a0001c0003t0001g0171
a0001c0003t0002g0149
a0002c0002t0001g0015
a0002c0002t0001g0057
a0002c0002t0001g0089
a0002c0002t0001g0095
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0124
a0002c0002t0002g0096
a0002c0002t0002g0154
a0002c0002t0002g0166
 20 HG00323.hp1
HG00438.hp2
HG00639.hp1
others(17): Show 
HG00323.hp1
HG00438.hp2
HG00639.hp1
HG00639.hp2
HG00733.hp1
HG01361.hp1
HG01361.hp2
HG01516.hp1
HG01517.hp1
HG02080.hp1
HG02155.hp2
HG02165.hp1
HG02451.hp1
HG02896.hp2
NA18969.hp2
NA18975.hp1
NA18975.hp2
NA18998.hp1
NA19080.hp1
NA21309.hp2
 intron_variant MODIFIER c.70-688C>T
c.70-688C>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 chrX 1622451
chrX:1622465
AT
AT
 A
A
 1 a0010c0015t0002g0179
a0010c0015t0002g0179
 1 NA19072.hp2
NA19072.hp2
 intron_variant MODIFIER c.70-669delT
c.70-669delT
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 INFO_REALIGN_3_PRIME chrX 1622465
chrX:1622555
G
G
 A
A
 3 a0002c0002t0001g0122
a0002c0010t0001g0010
a0005c0016t0001g0045
a0002c0002t0001g0122
a0002c0010t0001g0010
a0005c0016t0001g0045
 3 HG02622.hp2
HG03540.hp2
NA19030.hp1
HG02622.hp2
HG03540.hp2
NA19030.hp1
 intron_variant MODIFIER c.70-584G>A
c.70-584G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 chrX 1622555
chrX:1622559
A
A
 G
G
 1 a0002c0002t0001g0078
a0002c0002t0001g0078
 1 HG03927.hp1
HG03927.hp1
 intron_variant MODIFIER c.70-580A>G
c.70-580A>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 chrX 1622559
chrX:1622589
G
G
 GA
GA
 1 a0014c0018t0001g0060
a0014c0018t0001g0060
 1 NA18988.hp1
NA18988.hp1
 intron_variant MODIFIER c.70-549dupA
c.70-549dupA
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 INFO_REALIGN_3_PRIME chrX 1622589
chrX:1622729
TG
TG
 T
T
 2 a0001c0001t0002g0144
a0001c0001t0002g0145
a0001c0001t0002g0144
a0001c0001t0002g0145
 2 HG06807.hp2
NA18906.hp2
HG06807.hp2
NA18906.hp2
 intron_variant MODIFIER c.70-408delG
c.70-408delG
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 INFO_REALIGN_3_PRIME chrX 1622729
chrX:1622769
A
A
 AG
AG
 1 a0014c0018t0001g0060
a0014c0018t0001g0060
 1 NA18988.hp1
NA18988.hp1
 intron_variant MODIFIER c.70-368dupG
c.70-368dupG
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 INFO_REALIGN_3_PRIME chrX 1622769
chrX:1622770
G
G
 A
A
 1 a0001c0001t0001g0065
a0001c0001t0001g0065
 1 NA19011.hp1
NA19011.hp1
 intron_variant MODIFIER c.70-369G>A
c.70-369G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 chrX 1622770
chrX:1622814
AG
AG
 A
A
 1 a0014c0018t0001g0060
a0014c0018t0001g0060
 1 NA18988.hp1
NA18988.hp1
 intron_variant MODIFIER c.70-323delG
c.70-323delG
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 INFO_REALIGN_3_PRIME chrX 1622814
chrX:1622836
C
C
 T
T
 1 a0001c0003t0001g0023
a0001c0003t0001g0023
 1 HG01175.hp1
HG01175.hp1
 intron_variant MODIFIER c.70-303C>T
c.70-303C>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 chrX 1622836
chrX:1622837
G
G
 A
A
 2 a0001c0001t0001g0001
a0001c0001t0001g0158
a0001c0001t0001g0001
a0001c0001t0001g0158
 3 HG02559.hp1
HG03195.hp2
NA19240.hp1
HG02559.hp1
HG03195.hp2
NA19240.hp1
 intron_variant MODIFIER c.70-302G>A
c.70-302G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 chrX 1622837
chrX:1622838
GGAGGCAG
others(1): Show 
GGAGGCAGA
 G
G
 1 a0001c0003t0001g0091
a0001c0003t0001g0091
 1 HG00597.hp2
HG00597.hp2
 intron_variant MODIFIER c.70-299_70-292delAG
others(6): Show 
c.70-299_70-292delAGGCAGAG
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 INFO_REALIGN_3_PRIME chrX 1622838
chrX:1622858
GC
GC
 G
G
 1 a0014c0018t0001g0060
a0014c0018t0001g0060
 1 NA18988.hp1
NA18988.hp1
 intron_variant MODIFIER c.70-279delC
c.70-279delC
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 INFO_REALIGN_3_PRIME chrX 1622858
chrX:1622864
A
A
 AC
AC
 1 a0014c0018t0001g0060
a0014c0018t0001g0060
 1 NA18988.hp1
NA18988.hp1
 intron_variant MODIFIER c.70-273dupC
c.70-273dupC
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 INFO_REALIGN_3_PRIME chrX 1622864
chrX:1622882
A
A
 G
G
 2 a0002c0002t0001g0122
a0005c0016t0001g0045
a0002c0002t0001g0122
a0005c0016t0001g0045
 2 HG03540.hp2
NA19030.hp1
HG03540.hp2
NA19030.hp1
 intron_variant MODIFIER c.70-257A>G
c.70-257A>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 chrX 1622882
chrX:1622921
A
A
 T
T
 8 a0001c0001t0001g0005
a0001c0001t0001g0084
a0001c0001t0001g0086
others(5): Show 
a0001c0001t0001g0005
a0001c0001t0001g0084
a0001c0001t0001g0086
a0001c0001t0002g0134
a0001c0001t0002g0164
a0002c0002t0001g0054
a0002c0002t0001g0074
a0002c0002t0001g0085
 8 HG02602.hp2
HG02615.hp1
NA18947.hp2
others(5): Show 
HG02602.hp2
HG02615.hp1
NA18947.hp2
NA18950.hp1
NA18974.hp1
NA18980.hp2
NA19081.hp2
NA21309.hp1
 intron_variant MODIFIER c.70-218A>T
c.70-218A>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 chrX 1622921
chrX:1622950
T
T
 A
A
 46 a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0012
others(43): Show 
a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0012
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0053
a0001c0001t0001g0061
a0001c0001t0001g0063
a0001c0001t0001g0079
a0001c0001t0001g0082
a0001c0001t0001g0097
a0001c0001t0001g0100
a0001c0001t0001g0102
a0001c0001t0001g0103
a0001c0001t0001g0118
a0001c0001t0001g0158
a0001c0001t0001g0174
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0203
a0001c0001t0001g0212
a0001c0001t0002g0180
a0001c0001t0002g0200
a0001c0001t0002g0218
a0001c0003t0001g0013
a0001c0003t0001g0062
a0001c0003t0001g0080
a0001c0003t0001g0219
a0001c0003t0002g0133
a0001c0003t0002g0155
a0001c0003t0002g0173
a0002c0002t0001g0042
a0002c0002t0001g0044
a0002c0002t0001g0220
a0002c0002t0001g0221
a0002c0002t0002g0162
a0002c0002t0002g0163
a0002c0002t0002g0178
a0002c0002t0002g0191
a0002c0002t0002g0198
a0002c0002t0002g0199
a0003c0005t0001g0202
a0008c0013t0001g0101
a0011c0008t0001g0034
a0014c0018t0001g0060
 47 HG00423.hp2
HG00438.hp1
HG00597.hp1
others(44): Show 
HG00423.hp2
HG00438.hp1
HG00597.hp1
HG00741.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01081.hp2
HG01123.hp2
HG01256.hp1
HG01257.hp1
HG01257.hp2
HG01516.hp2
HG01517.hp2
HG01891.hp2
HG01975.hp1
HG01978.hp2
HG01981.hp1
HG01993.hp2
HG02109.hp2
HG02148.hp1
HG02257.hp1
HG02451.hp2
HG02523.hp2
HG02559.hp1
HG02630.hp2
HG02818.hp1
HG02922.hp1
HG03195.hp2
HG03486.hp2
NA18939.hp1
NA18942.hp2
NA18950.hp2
NA18951.hp2
NA18955.hp1
NA18956.hp2
NA18977.hp2
NA18988.hp1
NA18998.hp2
NA19002.hp1
NA19010.hp1
NA19064.hp2
NA19065.hp1
NA19074.hp2
NA19077.hp1
NA19085.hp1
NA19240.hp1
 intron_variant MODIFIER c.70-189T>A
c.70-189T>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 chrX 1622950
chrX:1622998
C
C
 CA
CA
 20 a0001c0001t0001g0037
a0001c0001t0001g0081
a0001c0001t0001g0206
others(17): Show 
a0001c0001t0001g0037
a0001c0001t0001g0081
a0001c0001t0001g0206
a0001c0001t0002g0140
a0001c0001t0002g0141
a0001c0001t0002g0144
a0001c0001t0002g0145
a0001c0001t0002g0161
a0001c0001t0002g0201
a0001c0003t0001g0091
a0001c0003t0002g0142
a0002c0002t0001g0026
a0002c0002t0001g0185
a0002c0002t0002g0131
a0002c0002t0002g0172
a0002c0002t0002g0207
a0002c0006t0001g0187
a0004c0004t0001g0169
a0010c0015t0002g0179
a0014c0018t0001g0060
 20 HG00544.hp2
HG00597.hp2
HG01496.hp1
others(17): Show 
HG00544.hp2
HG00597.hp2
HG01496.hp1
HG01981.hp2
HG01993.hp1
HG02080.hp2
HG02273.hp2
HG03491.hp1
HG03491.hp2
HG06807.hp2
NA18906.hp2
NA18951.hp1
NA18988.hp1
NA18992.hp1
NA18999.hp2
NA19057.hp1
NA19057.hp2
NA19064.hp1
NA19072.hp2
NA19074.hp1
 intron_variant MODIFIER c.70-130dupA
c.70-130dupA
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 INFO_REALIGN_3_PRIME chrX 1622998
chrX:1622998
CA
CA
 C
C
 2 a0001c0003t0001g0051
a0001c0003t0001g0093
a0001c0003t0001g0051
a0001c0003t0001g0093
 2 NA18963.hp2
NA18986.hp2
NA18963.hp2
NA18986.hp2
 intron_variant MODIFIER c.70-130delA
c.70-130delA
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 INFO_REALIGN_3_PRIME chrX 1622998
chrX:1623054
T
T
 C
C
 176 a0001c0001t0001g0001
a0001c0001t0001g0005
a0001c0001t0001g0006
others(173): Show 
a0001c0001t0001g0001
a0001c0001t0001g0005
a0001c0001t0001g0006
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0012
a0001c0001t0001g0014
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0019
a0001c0001t0001g0021
a0001c0001t0001g0027
a0001c0001t0001g0029
a0001c0001t0001g0035
a0001c0001t0001g0037
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0053
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0061
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0068
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0079
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0086
a0001c0001t0001g0097
a0001c0001t0001g0100
a0001c0001t0001g0102
a0001c0001t0001g0103
a0001c0001t0001g0118
a0001c0001t0001g0123
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0158
a0001c0001t0001g0174
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0209
a0001c0001t0001g0211
a0001c0001t0001g0212
a0001c0001t0001g0214
a0001c0001t0001g0215
a0001c0001t0002g0039
a0001c0001t0002g0120
a0001c0001t0002g0132
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0002g0140
a0001c0001t0002g0141
a0001c0001t0002g0144
a0001c0001t0002g0145
a0001c0001t0002g0147
a0001c0001t0002g0153
a0001c0001t0002g0161
a0001c0001t0002g0164
a0001c0001t0002g0167
a0001c0001t0002g0168
a0001c0001t0002g0170
a0001c0001t0002g0176
a0001c0001t0002g0180
a0001c0001t0002g0190
a0001c0001t0002g0200
a0001c0001t0002g0201
a0001c0001t0002g0218
a0001c0001t0003g0090
a0001c0001t0005g0165
a0001c0003t0001g0013
a0001c0003t0001g0022
a0001c0003t0001g0023
a0001c0003t0001g0038
a0001c0003t0001g0050
a0001c0003t0001g0051
a0001c0003t0001g0059
a0001c0003t0001g0062
a0001c0003t0001g0070
a0001c0003t0001g0080
a0001c0003t0001g0091
a0001c0003t0001g0094
a0001c0003t0001g0107
a0001c0003t0001g0171
a0001c0003t0001g0219
a0001c0003t0002g0133
a0001c0003t0002g0142
a0001c0003t0002g0149
a0001c0003t0002g0150
a0001c0003t0002g0155
a0001c0003t0002g0173
a0001c0003t0002g0182
a0002c0002t0001g0002
a0002c0002t0001g0003
a0002c0002t0001g0009
a0002c0002t0001g0015
a0002c0002t0001g0020
a0002c0002t0001g0026
a0002c0002t0001g0031
a0002c0002t0001g0042
a0002c0002t0001g0044
a0002c0002t0001g0054
a0002c0002t0001g0057
a0002c0002t0001g0066
a0002c0002t0001g0069
a0002c0002t0001g0073
a0002c0002t0001g0074
a0002c0002t0001g0085
a0002c0002t0001g0089
a0002c0002t0001g0095
a0002c0002t0001g0099
a0002c0002t0001g0108
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0122
a0002c0002t0001g0124
a0002c0002t0001g0125
a0002c0002t0001g0127
a0002c0002t0001g0129
a0002c0002t0001g0130
a0002c0002t0001g0151
a0002c0002t0001g0175
a0002c0002t0001g0185
a0002c0002t0001g0189
a0002c0002t0001g0208
a0002c0002t0001g0210
a0002c0002t0001g0220
a0002c0002t0001g0221
a0002c0002t0001g0222
a0002c0002t0002g0096
a0002c0002t0002g0112
a0002c0002t0002g0131
a0002c0002t0002g0146
a0002c0002t0002g0154
a0002c0002t0002g0156
a0002c0002t0002g0159
a0002c0002t0002g0160
a0002c0002t0002g0162
a0002c0002t0002g0163
a0002c0002t0002g0166
a0002c0002t0002g0172
a0002c0002t0002g0178
a0002c0002t0002g0186
a0002c0002t0002g0188
a0002c0002t0002g0191
a0002c0002t0002g0198
a0002c0002t0002g0199
a0002c0002t0002g0207
a0002c0002t0002g0213
a0002c0006t0001g0187
a0002c0010t0001g0010
a0003c0005t0001g0202
a0003c0009t0001g0011
a0004c0004t0001g0169
a0004c0004t0004g0148
a0005c0016t0001g0045
a0006c0011t0001g0139
a0008c0013t0001g0101
a0010c0015t0002g0179
a0011c0008t0001g0034
a0013c0017t0001g0111
a0014c0018t0001g0060
 177 HG00099.hp1
HG00323.hp1
HG00423.hp1
others(174): Show 
HG00099.hp1
HG00323.hp1
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp2
HG00597.hp1
HG00597.hp2
HG00639.hp1
HG00639.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01081.hp2
HG01123.hp2
HG01175.hp1
HG01256.hp1
HG01257.hp1
HG01257.hp2
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01496.hp1
HG01496.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01975.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02683.hp1
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02976.hp1
HG03041.hp1
HG03195.hp1
HG03195.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03486.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03669.hp1
HG03831.hp2
HG03927.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp1
NA18942.hp2
NA18947.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18956.hp2
NA18963.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp2
NA18973.hp1
NA18974.hp1
NA18975.hp1
NA18975.hp2
NA18977.hp2
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18985.hp1
NA18988.hp1
NA18992.hp1
NA18998.hp1
NA18998.hp2
NA18999.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19057.hp1
NA19057.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19072.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19085.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.70-85T>C
c.70-85T>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 chrX 1623054
chrX:1623075
G
G
 GT
GT
 1 a0014c0018t0001g0060
a0014c0018t0001g0060
 1 NA18988.hp1
NA18988.hp1
 intron_variant MODIFIER c.70-61dupT
c.70-61dupT
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 1/8 INFO_REALIGN_3_PRIME chrX 1623075
chrX:1623320
A
A
 AC
AC
 1 a0014c0018t0001g0060
a0014c0018t0001g0060
 1 NA18988.hp1
NA18988.hp1
 intron_variant MODIFIER c.244+8dupC
c.244+8dupC
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 2/8 INFO_REALIGN_3_PRIME chrX 1623320
chrX:1623327
C
C
 A
A
 9 a0001c0001t0001g0006
a0001c0001t0001g0008
a0001c0001t0001g0071
others(6): Show 
a0001c0001t0001g0006
a0001c0001t0001g0008
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0123
a0001c0001t0001g0211
a0001c0001t0001g0214
a0001c0001t0001g0215
a0002c0002t0001g0009
 9 HG01884.hp1
HG02622.hp1
HG02809.hp1
others(6): Show 
HG01884.hp1
HG02622.hp1
HG02809.hp1
HG02886.hp1
HG02896.hp1
HG03041.hp1
HG03453.hp2
HG03540.hp1
NA20129.hp1
 intron_variant MODIFIER c.244+14C>A
c.244+14C>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 2/8 chrX 1623327
chrX:1623378
G
G
 A
A
 11 a0001c0001t0001g0014
a0001c0001t0001g0204
a0001c0001t0001g0205
others(8): Show 
a0001c0001t0001g0014
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0209
a0001c0003t0001g0022
a0002c0002t0001g0002
a0002c0002t0001g0069
a0002c0002t0001g0208
a0002c0002t0001g0210
a0002c0002t0002g0159
a0003c0009t0001g0011
 11 HG01891.hp1
HG02109.hp1
HG02630.hp1
others(8): Show 
HG01891.hp1
HG02109.hp1
HG02630.hp1
HG02723.hp1
HG02809.hp2
HG02976.hp1
HG03453.hp1
HG03516.hp1
HG06807.hp1
NA18906.hp1
NA19030.hp2
 intron_variant MODIFIER c.244+65G>A
c.244+65G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 2/8 chrX 1623378
chrX:1623380
A
A
 AT
AT
 1 a0014c0018t0001g0060
a0014c0018t0001g0060
 1 NA18988.hp1
NA18988.hp1
 intron_variant MODIFIER c.244+67_244+68insT
c.244+67_244+68insT
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 2/8 chrX 1623380
chrX:1623387
G
G
 GA
GA
 1 a0014c0018t0001g0060
a0014c0018t0001g0060
 1 NA18988.hp1
NA18988.hp1
 intron_variant MODIFIER c.244+77dupA
c.244+77dupA
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 2/8 INFO_REALIGN_3_PRIME chrX 1623387
chrX:1623414
G
G
 GT
GT
 1 a0014c0018t0001g0060
a0014c0018t0001g0060
 1 NA18988.hp1
NA18988.hp1
 intron_variant MODIFIER c.244+102dupT
c.244+102dupT
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 2/8 INFO_REALIGN_3_PRIME chrX 1623414
chrX:1623440
A
A
 T
T
 64 a0001c0001t0001g0007
a0001c0001t0001g0012
a0001c0001t0001g0014
others(61): Show 
a0001c0001t0001g0007
a0001c0001t0001g0012
a0001c0001t0001g0014
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0019
a0001c0001t0001g0021
a0001c0001t0001g0037
a0001c0001t0001g0046
a0001c0001t0001g0053
a0001c0001t0001g0061
a0001c0001t0001g0063
a0001c0001t0001g0079
a0001c0001t0001g0082
a0001c0001t0001g0097
a0001c0001t0001g0100
a0001c0001t0001g0102
a0001c0001t0001g0103
a0001c0001t0001g0118
a0001c0001t0001g0174
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0209
a0001c0001t0002g0134
a0001c0001t0002g0144
a0001c0001t0002g0145
a0001c0001t0002g0180
a0001c0001t0002g0200
a0001c0001t0002g0218
a0001c0003t0001g0013
a0001c0003t0001g0022
a0001c0003t0001g0062
a0001c0003t0001g0070
a0001c0003t0001g0080
a0001c0003t0001g0219
a0001c0003t0002g0133
a0001c0003t0002g0155
a0001c0003t0002g0173
a0002c0002t0001g0002
a0002c0002t0001g0020
a0002c0002t0001g0042
a0002c0002t0001g0044
a0002c0002t0001g0069
a0002c0002t0001g0074
a0002c0002t0001g0189
a0002c0002t0001g0208
a0002c0002t0001g0210
a0002c0002t0001g0220
a0002c0002t0001g0221
a0002c0002t0002g0159
a0002c0002t0002g0160
a0002c0002t0002g0163
a0002c0002t0002g0178
a0002c0002t0002g0191
a0002c0002t0002g0198
a0002c0002t0002g0199
a0003c0005t0001g0202
a0003c0009t0001g0011
a0008c0013t0001g0101
a0011c0008t0001g0034
a0014c0018t0001g0060
 64 HG00423.hp2
HG00597.hp1
HG00741.hp1
others(61): Show 
HG00423.hp2
HG00597.hp1
HG00741.hp1
HG00741.hp2
HG01070.hp2
HG01081.hp2
HG01123.hp2
HG01256.hp1
HG01257.hp1
HG01257.hp2
HG01516.hp2
HG01517.hp2
HG01884.hp2
HG01891.hp1
HG01975.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp2
HG02109.hp1
HG02109.hp2
HG02148.hp1
HG02257.hp1
HG02280.hp1
HG02451.hp2
HG02523.hp2
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02723.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp2
HG02922.hp1
HG02922.hp2
HG02976.hp1
HG03195.hp1
HG03453.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18942.hp2
NA18950.hp2
NA18951.hp2
NA18955.hp1
NA18956.hp2
NA18977.hp2
NA18988.hp1
NA18998.hp2
NA19002.hp1
NA19010.hp1
NA19030.hp2
NA19064.hp2
NA19065.hp1
NA19074.hp2
NA19077.hp1
NA19085.hp1
NA20300.hp1
NA21309.hp1
 intron_variant MODIFIER c.244+127A>T
c.244+127A>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 2/8 chrX 1623440
chrX:1623464
T
T
 TG
TG
 1 a0014c0018t0001g0060
a0014c0018t0001g0060
 1 NA18988.hp1
NA18988.hp1
 intron_variant MODIFIER c.244+153dupG
c.244+153dupG
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 2/8 INFO_REALIGN_3_PRIME chrX 1623464
chrX:1623472
A
A
 AC
AC
 1 a0014c0018t0001g0060
a0014c0018t0001g0060
 1 NA18988.hp1
NA18988.hp1
 intron_variant MODIFIER c.244+161dupC
c.244+161dupC
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 2/8 INFO_REALIGN_3_PRIME chrX 1623472
chrX:1623495
AG
AG
 A
A
 1 a0014c0018t0001g0060
a0014c0018t0001g0060
 1 NA18988.hp1
NA18988.hp1
 intron_variant MODIFIER c.244+184delG
c.244+184delG
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 2/8 INFO_REALIGN_3_PRIME chrX 1623495
chrX:1623521
C
C
 T
T
 9 a0001c0001t0001g0006
a0001c0001t0001g0008
a0001c0001t0001g0071
others(6): Show 
a0001c0001t0001g0006
a0001c0001t0001g0008
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0123
a0001c0001t0001g0211
a0001c0001t0001g0214
a0001c0001t0001g0215
a0002c0002t0001g0009
 9 HG01884.hp1
HG02622.hp1
HG02809.hp1
others(6): Show 
HG01884.hp1
HG02622.hp1
HG02809.hp1
HG02886.hp1
HG02896.hp1
HG03041.hp1
HG03453.hp2
HG03540.hp1
NA20129.hp1
 intron_variant MODIFIER c.244+208C>T
c.244+208C>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 2/8 chrX 1623521
chrX:1623588
G
G
 C
C
 3 a0001c0001t0001g0097
a0001c0003t0001g0062
a0001c0003t0002g0155
a0001c0001t0001g0097
a0001c0003t0001g0062
a0001c0003t0002g0155
 3 HG01975.hp1
NA18977.hp2
NA19064.hp2
HG01975.hp1
NA18977.hp2
NA19064.hp2
 intron_variant MODIFIER c.244+275G>C
c.244+275G>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 2/8 chrX 1623588
chrX:1623611
T
T
 TGAG
TGAG
 1 a0014c0018t0001g0060
a0014c0018t0001g0060
 1 NA18988.hp1
NA18988.hp1
 intron_variant MODIFIER c.244+299_244+300ins
others(3): Show 
c.244+299_244+300insAGG
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 2/8 INFO_REALIGN_3_PRIME chrX 1623611
chrX:1623614
G
G
 A
A
 1 a0014c0018t0001g0060
a0014c0018t0001g0060
 1 NA18988.hp1
NA18988.hp1
 intron_variant MODIFIER c.244+301G>A
c.244+301G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 2/8 chrX 1623614
chrX:1623624
G
G
 GT
GT
 2 a0001c0003t0001g0091
a0014c0018t0001g0060
a0001c0003t0001g0091
a0014c0018t0001g0060
 2 HG00597.hp2
NA18988.hp1
HG00597.hp2
NA18988.hp1
 intron_variant MODIFIER c.244+316dupT
c.244+316dupT
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 2/8 INFO_REALIGN_3_PRIME chrX 1623624
chrX:1623639
A
A
 G
G
 1 a0002c0002t0002g0146
a0002c0002t0002g0146
 1 HG02004.hp2
HG02004.hp2
 intron_variant MODIFIER c.244+326A>G
c.244+326A>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 2/8 chrX 1623639
chrX:1623656
GGACGTCA
others(2): Show 
GGACGTCAAA
 G
G
 1 a0001c0003t0002g0182
a0001c0003t0002g0182
 1 NA18985.hp1
NA18985.hp1
 intron_variant MODIFIER c.244+345_244+353del
others(9): Show 
c.244+345_244+353delACGTCAAAG
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 2/8 INFO_REALIGN_3_PRIME chrX 1623656
chrX:1623659
C
C
 T
T
 2 a0002c0002t0001g0122
a0005c0016t0001g0045
a0002c0002t0001g0122
a0005c0016t0001g0045
 2 HG03540.hp2
NA19030.hp1
HG03540.hp2
NA19030.hp1
 intron_variant MODIFIER c.244+346C>T
c.244+346C>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 2/8 chrX 1623659
chrX:1623660
G
G
 A
A
 9 a0001c0001t0001g0006
a0001c0001t0001g0008
a0001c0001t0001g0071
others(6): Show 
a0001c0001t0001g0006
a0001c0001t0001g0008
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0123
a0001c0001t0001g0211
a0001c0001t0001g0214
a0001c0001t0001g0215
a0002c0002t0001g0009
 9 HG01884.hp1
HG02622.hp1
HG02809.hp1
others(6): Show 
HG01884.hp1
HG02622.hp1
HG02809.hp1
HG02886.hp1
HG02896.hp1
HG03041.hp1
HG03453.hp2
HG03540.hp1
NA20129.hp1
 intron_variant MODIFIER c.244+347G>A
c.244+347G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 2/8 chrX 1623660
chrX:1623686
A
A
 G
G
 23 a0001c0001t0001g0029
a0001c0001t0001g0049
a0001c0001t0001g0056
others(20): Show 
a0001c0001t0001g0029
a0001c0001t0001g0049
a0001c0001t0001g0056
a0001c0001t0001g0138
a0001c0001t0002g0039
a0001c0001t0002g0167
a0001c0001t0002g0168
a0001c0001t0002g0170
a0001c0001t0002g0176
a0001c0003t0001g0050
a0001c0003t0001g0171
a0001c0003t0002g0149
a0002c0002t0001g0015
a0002c0002t0001g0057
a0002c0002t0001g0089
a0002c0002t0001g0095
a0002c0002t0001g0099
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0124
a0002c0002t0002g0096
a0002c0002t0002g0154
a0002c0002t0002g0166
 23 HG00323.hp1
HG00438.hp2
HG00639.hp1
others(20): Show 
HG00323.hp1
HG00438.hp2
HG00639.hp1
HG00639.hp2
HG00733.hp1
HG01361.hp1
HG01361.hp2
HG01516.hp1
HG01517.hp1
HG02080.hp1
HG02155.hp2
HG02165.hp1
HG02451.hp1
HG02896.hp2
HG04184.hp2
NA18969.hp2
NA18975.hp1
NA18975.hp2
NA18998.hp1
NA19002.hp2
NA19077.hp2
NA19080.hp1
NA21309.hp2
 intron_variant MODIFIER c.244+373A>G
c.244+373A>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 2/8 chrX 1623686
chrX:1623744
A
A
 G
G
 174 a0001c0001t0001g0001
a0001c0001t0001g0005
a0001c0001t0001g0006
others(171): Show 
a0001c0001t0001g0001
a0001c0001t0001g0005
a0001c0001t0001g0006
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0012
a0001c0001t0001g0014
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0019
a0001c0001t0001g0021
a0001c0001t0001g0027
a0001c0001t0001g0035
a0001c0001t0001g0037
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0046
a0001c0001t0001g0049
a0001c0001t0001g0053
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0061
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0068
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0079
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0086
a0001c0001t0001g0097
a0001c0001t0001g0100
a0001c0001t0001g0102
a0001c0001t0001g0103
a0001c0001t0001g0118
a0001c0001t0001g0123
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0158
a0001c0001t0001g0174
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0209
a0001c0001t0001g0211
a0001c0001t0001g0214
a0001c0001t0001g0215
a0001c0001t0002g0039
a0001c0001t0002g0120
a0001c0001t0002g0132
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0002g0140
a0001c0001t0002g0141
a0001c0001t0002g0143
a0001c0001t0002g0144
a0001c0001t0002g0145
a0001c0001t0002g0147
a0001c0001t0002g0153
a0001c0001t0002g0161
a0001c0001t0002g0164
a0001c0001t0002g0167
a0001c0001t0002g0168
a0001c0001t0002g0170
a0001c0001t0002g0176
a0001c0001t0002g0180
a0001c0001t0002g0190
a0001c0001t0002g0200
a0001c0001t0002g0201
a0001c0001t0002g0218
a0001c0001t0003g0090
a0001c0001t0005g0165
a0001c0003t0001g0013
a0001c0003t0001g0022
a0001c0003t0001g0023
a0001c0003t0001g0038
a0001c0003t0001g0050
a0001c0003t0001g0051
a0001c0003t0001g0059
a0001c0003t0001g0062
a0001c0003t0001g0070
a0001c0003t0001g0080
a0001c0003t0001g0091
a0001c0003t0001g0094
a0001c0003t0001g0107
a0001c0003t0001g0171
a0001c0003t0001g0219
a0001c0003t0002g0133
a0001c0003t0002g0142
a0001c0003t0002g0149
a0001c0003t0002g0150
a0001c0003t0002g0155
a0001c0003t0002g0173
a0001c0003t0002g0182
a0002c0002t0001g0002
a0002c0002t0001g0003
a0002c0002t0001g0009
a0002c0002t0001g0015
a0002c0002t0001g0020
a0002c0002t0001g0026
a0002c0002t0001g0031
a0002c0002t0001g0042
a0002c0002t0001g0044
a0002c0002t0001g0054
a0002c0002t0001g0057
a0002c0002t0001g0066
a0002c0002t0001g0069
a0002c0002t0001g0073
a0002c0002t0001g0074
a0002c0002t0001g0085
a0002c0002t0001g0089
a0002c0002t0001g0095
a0002c0002t0001g0098
a0002c0002t0001g0099
a0002c0002t0001g0108
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0122
a0002c0002t0001g0124
a0002c0002t0001g0125
a0002c0002t0001g0127
a0002c0002t0001g0129
a0002c0002t0001g0130
a0002c0002t0001g0151
a0002c0002t0001g0175
a0002c0002t0001g0185
a0002c0002t0001g0189
a0002c0002t0001g0208
a0002c0002t0001g0210
a0002c0002t0001g0220
a0002c0002t0001g0221
a0002c0002t0001g0222
a0002c0002t0002g0096
a0002c0002t0002g0112
a0002c0002t0002g0131
a0002c0002t0002g0146
a0002c0002t0002g0154
a0002c0002t0002g0156
a0002c0002t0002g0159
a0002c0002t0002g0162
a0002c0002t0002g0163
a0002c0002t0002g0166
a0002c0002t0002g0172
a0002c0002t0002g0178
a0002c0002t0002g0186
a0002c0002t0002g0188
a0002c0002t0002g0191
a0002c0002t0002g0198
a0002c0002t0002g0199
a0002c0002t0002g0207
a0002c0002t0002g0213
a0002c0006t0001g0187
a0002c0010t0001g0010
a0003c0005t0001g0202
a0003c0009t0001g0011
a0004c0004t0001g0169
a0004c0004t0004g0148
a0005c0016t0001g0045
a0006c0011t0001g0139
a0008c0013t0001g0101
a0009c0014t0002g0075
a0010c0015t0002g0179
a0011c0008t0001g0034
a0013c0017t0001g0111
a0014c0018t0001g0060
 175 HG00099.hp1
HG00323.hp1
HG00423.hp1
others(172): Show 
HG00099.hp1
HG00323.hp1
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp2
HG00597.hp1
HG00597.hp2
HG00639.hp1
HG00639.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00741.hp1
HG00741.hp2
HG01070.hp2
HG01071.hp2
HG01081.hp2
HG01123.hp2
HG01175.hp1
HG01256.hp1
HG01257.hp1
HG01257.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01496.hp1
HG01496.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01975.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02683.hp1
HG02683.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02976.hp1
HG03041.hp1
HG03195.hp1
HG03195.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03486.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03669.hp1
HG03831.hp2
HG03927.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp1
NA18942.hp2
NA18947.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18956.hp2
NA18963.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp2
NA18973.hp1
NA18974.hp1
NA18975.hp1
NA18975.hp2
NA18977.hp2
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18985.hp1
NA18988.hp1
NA18992.hp1
NA18998.hp1
NA18998.hp2
NA18999.hp2
NA19002.hp1
NA19003.hp1
NA19003.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19057.hp1
NA19057.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19072.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19085.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.244+431A>G
c.244+431A>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 2/8 chrX 1623744
chrX:1623782
C
C
 T
T
 11 a0001c0001t0001g0014
a0001c0001t0001g0204
a0001c0001t0001g0205
others(8): Show 
a0001c0001t0001g0014
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0209
a0001c0003t0001g0022
a0002c0002t0001g0002
a0002c0002t0001g0069
a0002c0002t0001g0208
a0002c0002t0001g0210
a0002c0002t0002g0159
a0003c0009t0001g0011
 11 HG01891.hp1
HG02109.hp1
HG02630.hp1
others(8): Show 
HG01891.hp1
HG02109.hp1
HG02630.hp1
HG02723.hp1
HG02809.hp2
HG02976.hp1
HG03453.hp1
HG03516.hp1
HG06807.hp1
NA18906.hp1
NA19030.hp2
 intron_variant MODIFIER c.244+469C>T
c.244+469C>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 2/8 chrX 1623782
chrX:1623862
C
C
 T
T
 51 a0001c0001t0001g0007
a0001c0001t0001g0012
a0001c0001t0001g0016
others(48): Show 
a0001c0001t0001g0007
a0001c0001t0001g0012
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0019
a0001c0001t0001g0021
a0001c0001t0001g0037
a0001c0001t0001g0046
a0001c0001t0001g0053
a0001c0001t0001g0061
a0001c0001t0001g0063
a0001c0001t0001g0079
a0001c0001t0001g0082
a0001c0001t0001g0097
a0001c0001t0001g0100
a0001c0001t0001g0102
a0001c0001t0001g0103
a0001c0001t0001g0118
a0001c0001t0001g0174
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0203
a0001c0001t0002g0143
a0001c0001t0002g0180
a0001c0001t0002g0200
a0001c0001t0002g0218
a0001c0001t0003g0090
a0001c0003t0001g0013
a0001c0003t0001g0062
a0001c0003t0001g0080
a0001c0003t0001g0219
a0001c0003t0002g0133
a0001c0003t0002g0155
a0001c0003t0002g0173
a0002c0002t0001g0020
a0002c0002t0001g0042
a0002c0002t0001g0044
a0002c0002t0001g0074
a0002c0002t0001g0098
a0002c0002t0001g0189
a0002c0002t0001g0221
a0002c0002t0002g0162
a0002c0002t0002g0163
a0002c0002t0002g0178
a0002c0002t0002g0191
a0002c0002t0002g0198
a0002c0002t0002g0199
a0003c0005t0001g0202
a0008c0013t0001g0101
a0011c0008t0001g0034
a0014c0018t0001g0060
 51 HG00423.hp2
HG00438.hp1
HG00597.hp1
others(48): Show 
HG00423.hp2
HG00438.hp1
HG00597.hp1
HG00741.hp1
HG00741.hp2
HG01070.hp2
HG01071.hp2
HG01081.hp2
HG01123.hp2
HG01256.hp1
HG01257.hp1
HG01257.hp2
HG01346.hp1
HG01516.hp2
HG01517.hp2
HG01975.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp2
HG02109.hp2
HG02148.hp1
HG02257.hp1
HG02280.hp1
HG02451.hp2
HG02523.hp2
HG02630.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02922.hp1
HG02922.hp2
HG03195.hp1
HG03486.hp2
NA18939.hp1
NA18942.hp2
NA18950.hp2
NA18951.hp2
NA18955.hp1
NA18956.hp2
NA18977.hp2
NA18988.hp1
NA18998.hp2
NA19002.hp1
NA19010.hp1
NA19064.hp2
NA19065.hp1
NA19074.hp2
NA19085.hp1
NA20300.hp1
NA21309.hp1
 intron_variant MODIFIER c.245-407C>T
c.245-407C>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 2/8 chrX 1623862
chrX:1623901
G
G
 A
A
 3 a0001c0001t0002g0144
a0001c0001t0002g0145
a0002c0002t0001g0175
a0001c0001t0002g0144
a0001c0001t0002g0145
a0002c0002t0001g0175
 3 HG06807.hp2
NA18906.hp2
NA19240.hp2
HG06807.hp2
NA18906.hp2
NA19240.hp2
 intron_variant MODIFIER c.245-368G>A
c.245-368G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 2/8 chrX 1623901
chrX:1623946
G
G
 T
T
 1 a0001c0001t0001g0076
a0001c0001t0001g0076
 1 HG00735.hp1
HG00735.hp1
 intron_variant MODIFIER c.245-323G>T
c.245-323G>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 2/8 chrX 1623946
chrX:1623999
G
G
 A
A
 1 a0001c0001t0001g0110
a0001c0001t0001g0110
 1 HG02165.hp2
HG02165.hp2
 intron_variant MODIFIER c.245-270G>A
c.245-270G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 2/8 chrX 1623999
chrX:1624016
G
G
 A
A
 52 a0001c0001t0001g0007
a0001c0001t0001g0012
a0001c0001t0001g0016
others(49): Show 
a0001c0001t0001g0007
a0001c0001t0001g0012
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0019
a0001c0001t0001g0021
a0001c0001t0001g0037
a0001c0001t0001g0046
a0001c0001t0001g0053
a0001c0001t0001g0061
a0001c0001t0001g0063
a0001c0001t0001g0079
a0001c0001t0001g0082
a0001c0001t0001g0097
a0001c0001t0001g0100
a0001c0001t0001g0102
a0001c0001t0001g0103
a0001c0001t0001g0118
a0001c0001t0001g0174
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0203
a0001c0001t0002g0134
a0001c0001t0002g0143
a0001c0001t0002g0180
a0001c0001t0002g0200
a0001c0001t0002g0218
a0001c0001t0003g0090
a0001c0003t0001g0013
a0001c0003t0001g0062
a0001c0003t0001g0080
a0001c0003t0001g0219
a0001c0003t0002g0133
a0001c0003t0002g0155
a0001c0003t0002g0173
a0002c0002t0001g0020
a0002c0002t0001g0042
a0002c0002t0001g0044
a0002c0002t0001g0074
a0002c0002t0001g0098
a0002c0002t0001g0189
a0002c0002t0001g0221
a0002c0002t0002g0162
a0002c0002t0002g0163
a0002c0002t0002g0178
a0002c0002t0002g0191
a0002c0002t0002g0198
a0002c0002t0002g0199
a0003c0005t0001g0202
a0008c0013t0001g0101
a0011c0008t0001g0034
a0014c0018t0001g0060
 52 HG00423.hp2
HG00438.hp1
HG00597.hp1
others(49): Show 
HG00423.hp2
HG00438.hp1
HG00597.hp1
HG00741.hp1
HG00741.hp2
HG01070.hp2
HG01071.hp2
HG01081.hp2
HG01123.hp2
HG01256.hp1
HG01257.hp1
HG01257.hp2
HG01346.hp1
HG01516.hp2
HG01517.hp2
HG01975.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp2
HG02109.hp2
HG02148.hp1
HG02257.hp1
HG02280.hp1
HG02451.hp2
HG02523.hp2
HG02615.hp1
HG02630.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02922.hp1
HG02922.hp2
HG03195.hp1
HG03486.hp2
NA18939.hp1
NA18942.hp2
NA18950.hp2
NA18951.hp2
NA18955.hp1
NA18956.hp2
NA18977.hp2
NA18988.hp1
NA18998.hp2
NA19002.hp1
NA19010.hp1
NA19064.hp2
NA19065.hp1
NA19074.hp2
NA19085.hp1
NA20300.hp1
NA21309.hp1
 intron_variant MODIFIER c.245-253G>A
c.245-253G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 2/8 chrX 1624016
chrX:1624034
C
C
 T
T
 1 a0001c0001t0001g0005
a0001c0001t0001g0005
 1 NA18980.hp2
NA18980.hp2
 intron_variant MODIFIER c.245-235C>T
c.245-235C>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 2/8 chrX 1624034
chrX:1624064
C
C
 T
T
 16 a0001c0001t0001g0001
a0001c0001t0001g0005
a0001c0001t0001g0068
others(13): Show 
a0001c0001t0001g0001
a0001c0001t0001g0005
a0001c0001t0001g0068
a0001c0001t0001g0084
a0001c0001t0001g0086
a0001c0001t0001g0158
a0001c0001t0002g0164
a0001c0001t0005g0165
a0001c0003t0001g0023
a0002c0002t0001g0031
a0002c0002t0001g0054
a0002c0002t0001g0085
a0002c0002t0001g0122
a0002c0010t0001g0010
a0005c0016t0001g0045
a0013c0017t0001g0111
 17 HG01175.hp1
HG01346.hp2
HG02004.hp1
others(14): Show 
HG01175.hp1
HG01346.hp2
HG02004.hp1
HG02273.hp1
HG02523.hp1
HG02559.hp1
HG02602.hp2
HG02622.hp2
HG03195.hp2
HG03540.hp2
NA18947.hp2
NA18950.hp1
NA18974.hp1
NA18980.hp2
NA19030.hp1
NA19081.hp2
NA19240.hp1
 intron_variant MODIFIER c.245-205C>T
c.245-205C>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 2/8 chrX 1624064
chrX:1624067
C
C
 CG
CG
 1 a0003c0009t0001g0011
a0003c0009t0001g0011
 1 NA19030.hp2
NA19030.hp2
 intron_variant MODIFIER c.245-197dupG
c.245-197dupG
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 2/8 INFO_REALIGN_3_PRIME chrX 1624067
chrX:1624067
CG
CG
 C
C
 1 a0012c0007t0001g0036
a0012c0007t0001g0036
 1 NA19082.hp1
NA19082.hp1
 intron_variant MODIFIER c.245-197delG
c.245-197delG
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 2/8 INFO_REALIGN_3_PRIME chrX 1624067
chrX:1624111
A
A
 AG
AG
 1 a0014c0018t0001g0060
a0014c0018t0001g0060
 1 NA18988.hp1
NA18988.hp1
 intron_variant MODIFIER c.245-156dupG
c.245-156dupG
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 2/8 INFO_REALIGN_3_PRIME chrX 1624111
chrX:1624127
AG
AG
 A
A
 1 a0012c0007t0001g0036
a0012c0007t0001g0036
 1 NA19082.hp1
NA19082.hp1
 intron_variant MODIFIER c.245-140delG
c.245-140delG
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 2/8 INFO_REALIGN_3_PRIME chrX 1624127
chrX:1624134
AG
AG
 A
A
 1 a0014c0018t0001g0060
a0014c0018t0001g0060
 1 NA18988.hp1
NA18988.hp1
 intron_variant MODIFIER c.245-133delG
c.245-133delG
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 2/8 INFO_REALIGN_3_PRIME chrX 1624134
chrX:1624194
T
T
 C
C
 52 a0001c0001t0001g0007
a0001c0001t0001g0012
a0001c0001t0001g0016
others(49): Show 
a0001c0001t0001g0007
a0001c0001t0001g0012
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0019
a0001c0001t0001g0021
a0001c0001t0001g0037
a0001c0001t0001g0046
a0001c0001t0001g0053
a0001c0001t0001g0061
a0001c0001t0001g0063
a0001c0001t0001g0079
a0001c0001t0001g0082
a0001c0001t0001g0097
a0001c0001t0001g0100
a0001c0001t0001g0102
a0001c0001t0001g0103
a0001c0001t0001g0118
a0001c0001t0001g0174
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0203
a0001c0001t0002g0134
a0001c0001t0002g0143
a0001c0001t0002g0180
a0001c0001t0002g0200
a0001c0001t0002g0218
a0001c0001t0003g0090
a0001c0003t0001g0013
a0001c0003t0001g0062
a0001c0003t0001g0080
a0001c0003t0001g0219
a0001c0003t0002g0133
a0001c0003t0002g0155
a0001c0003t0002g0173
a0002c0002t0001g0020
a0002c0002t0001g0042
a0002c0002t0001g0044
a0002c0002t0001g0074
a0002c0002t0001g0098
a0002c0002t0001g0189
a0002c0002t0001g0221
a0002c0002t0002g0162
a0002c0002t0002g0163
a0002c0002t0002g0178
a0002c0002t0002g0191
a0002c0002t0002g0198
a0002c0002t0002g0199
a0003c0005t0001g0202
a0008c0013t0001g0101
a0011c0008t0001g0034
a0014c0018t0001g0060
 52 HG00423.hp2
HG00438.hp1
HG00597.hp1
others(49): Show 
HG00423.hp2
HG00438.hp1
HG00597.hp1
HG00741.hp1
HG00741.hp2
HG01070.hp2
HG01071.hp2
HG01081.hp2
HG01123.hp2
HG01256.hp1
HG01257.hp1
HG01257.hp2
HG01346.hp1
HG01516.hp2
HG01517.hp2
HG01975.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp2
HG02109.hp2
HG02148.hp1
HG02257.hp1
HG02280.hp1
HG02451.hp2
HG02523.hp2
HG02615.hp1
HG02630.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02922.hp1
HG02922.hp2
HG03195.hp1
HG03486.hp2
NA18939.hp1
NA18942.hp2
NA18950.hp2
NA18951.hp2
NA18955.hp1
NA18956.hp2
NA18977.hp2
NA18988.hp1
NA18998.hp2
NA19002.hp1
NA19010.hp1
NA19064.hp2
NA19065.hp1
NA19074.hp2
NA19085.hp1
NA20300.hp1
NA21309.hp1
 intron_variant MODIFIER c.245-75T>C
c.245-75T>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 2/8 chrX 1624194
chrX:1624209
TC
TC
 T
T
 1 a0012c0007t0001g0036
a0012c0007t0001g0036
 1 NA19082.hp1
NA19082.hp1
 intron_variant MODIFIER c.245-58delC
c.245-58delC
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 2/8 INFO_REALIGN_3_PRIME chrX 1624209
chrX:1624238
C
C
 CT
CT
 1 a0012c0007t0001g0036
a0012c0007t0001g0036
 1 NA19082.hp1
NA19082.hp1
 intron_variant MODIFIER c.245-26dupT
c.245-26dupT
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 2/8 INFO_REALIGN_3_PRIME chrX 1624238
chrX:1624252
T
T
 A
A
 2 a0002c0002t0001g0175
a0006c0011t0001g0139
a0002c0002t0001g0175
a0006c0011t0001g0139
 2 HG02559.hp2
NA19240.hp2
HG02559.hp2
NA19240.hp2
 intron_variant MODIFIER c.245-17T>A
c.245-17T>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 2/8 chrX 1624252
chrX:1624254
T
T
 TTG
TTG
 1 a0014c0018t0001g0060
a0014c0018t0001g0060
 1 NA18988.hp1
NA18988.hp1
 splice_region_variant&intron_variant LOW c.245-7_245-6dupGT
c.245-7_245-6dupGT
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 2/8 INFO_REALIGN_3_PRIME chrX 1624254
chrX:1624403
G
G
 T
T
 15 a0001c0001t0001g0061
a0001c0001t0001g0100
a0001c0001t0001g0102
others(12): Show 
a0001c0001t0001g0061
a0001c0001t0001g0100
a0001c0001t0001g0102
a0001c0001t0001g0103
a0001c0001t0001g0174
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0003t0001g0013
a0001c0003t0001g0219
a0001c0003t0002g0173
a0002c0002t0001g0042
a0002c0002t0002g0162
a0002c0002t0002g0163
a0008c0013t0001g0101
a0011c0008t0001g0034
 15 HG00423.hp2
HG00438.hp1
HG00597.hp1
others(12): Show 
HG00423.hp2
HG00438.hp1
HG00597.hp1
HG01981.hp1
HG02523.hp2
NA18939.hp1
NA18942.hp2
NA18950.hp2
NA18951.hp2
NA18956.hp2
NA18998.hp2
NA19002.hp1
NA19010.hp1
NA19074.hp2
NA19085.hp1
 splice_region_variant&intron_variant LOW c.374+5G>T
c.374+5G>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 chrX 1624403
chrX:1624451
A
A
 AG
AG
 1 a0012c0007t0001g0036
a0012c0007t0001g0036
 1 NA19082.hp1
NA19082.hp1
 intron_variant MODIFIER c.374+53_374+54insG
c.374+53_374+54insG
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 chrX 1624451
chrX:1624465
G
G
 T
T
 1 a0001c0003t0001g0093
a0001c0003t0001g0093
 1 NA18986.hp2
NA18986.hp2
 intron_variant MODIFIER c.374+67G>T
c.374+67G>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 chrX 1624465
chrX:1624471
C
C
 A
A
 1 a0001c0003t0001g0171
a0001c0003t0001g0171
 1 NA21309.hp2
NA21309.hp2
 intron_variant MODIFIER c.374+73C>A
c.374+73C>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 chrX 1624471
chrX:1624471
C
C
 CCCCCAGG
others(55): Show 
CCCCCAGGCAGATGCTGGGAGGTGGTGGCTGACCCCAGGCAGATGCTGGG
AGGTGGGGGCTGA
 1 a0002c0002t0001g0175
a0002c0002t0001g0175
 1 NA19240.hp2
NA19240.hp2
 intron_variant MODIFIER c.374+98_374+159dupT
others(61): Show 
c.374+98_374+159dupTGGCTGACCCCAGGCAGATGCTGGGAGGTGG
GGGCTGACCCCAGGCAGATGCTGGGAGGTGG
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chrX 1624471
chrX:1624472
CCCCAGGC
others(86): Show 
CCCCAGGCAGATGCTGGGAGGTGGTGGCTGACCCCAGGCAGATGCTGGGA
GGTGGGGGCTGACCCCAGGCAGATGCTGGGAGGTGGGGGCTGCA
 C
C
 5 a0001c0001t0001g0017
a0001c0001t0001g0019
a0001c0001t0001g0021
others(2): Show 
a0001c0001t0001g0017
a0001c0001t0001g0019
a0001c0001t0001g0021
a0001c0001t0003g0090
a0002c0002t0001g0020
 5 HG00741.hp2
HG02280.hp1
HG02818.hp2
others(2): Show 
HG00741.hp2
HG02280.hp1
HG02818.hp2
HG03195.hp1
NA20300.hp1
 intron_variant MODIFIER c.374+98_374+190delT
others(92): Show 
c.374+98_374+190delTGGCTGACCCCAGGCAGATGCTGGGAGGTGG
GGGCTGACCCCAGGCAGATGCTGGGAGGTGGGGGCTGCACCCAGGCAGAT
GCTGGGAGGTGG
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chrX 1624472
chrX:1624474
CCAGGCAG
others(272): Show 
CCAGGCAGATGCTGGGAGGTGGTGGCTGACCCCAGGCAGATGCTGGGAGG
TGGGGGCTGACCCCAGGCAGATGCTGGGAGGTGGGGGCTGCACCCAGGCA
GATGCTGGGAGGTGGGGGCTGCCCCCAGGCAGATGCTGGGAGGTGGTGGC
TGCACCCAGGCAGATGCTGGGAGGTGGGGGCTGCCCCCAGGCAGATGCTG
GGAGGTGGTGGCTGACCACAGGCAGATGCTGGGAGGTGGGGGCTGACCCC
AGGCAGATGCTGGGAGGTGGTGGCTGACCA
 C
C
 46 a0001c0001t0001g0007
a0001c0001t0001g0012
a0001c0001t0001g0037
others(43): Show 
a0001c0001t0001g0007
a0001c0001t0001g0012
a0001c0001t0001g0037
a0001c0001t0001g0046
a0001c0001t0001g0053
a0001c0001t0001g0061
a0001c0001t0001g0063
a0001c0001t0001g0079
a0001c0001t0001g0082
a0001c0001t0001g0097
a0001c0001t0001g0100
a0001c0001t0001g0102
a0001c0001t0001g0103
a0001c0001t0001g0118
a0001c0001t0001g0174
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0203
a0001c0001t0002g0134
a0001c0001t0002g0143
a0001c0001t0002g0180
a0001c0001t0002g0200
a0001c0001t0002g0218
a0001c0003t0001g0013
a0001c0003t0001g0062
a0001c0003t0001g0080
a0001c0003t0001g0219
a0001c0003t0002g0133
a0001c0003t0002g0155
a0001c0003t0002g0173
a0002c0002t0001g0042
a0002c0002t0001g0044
a0002c0002t0001g0074
a0002c0002t0001g0098
a0002c0002t0001g0189
a0002c0002t0001g0221
a0002c0002t0002g0162
a0002c0002t0002g0163
a0002c0002t0002g0178
a0002c0002t0002g0191
a0002c0002t0002g0198
a0002c0002t0002g0199
a0003c0005t0001g0202
a0008c0013t0001g0101
a0011c0008t0001g0034
a0014c0018t0001g0060
 46 HG00423.hp2
HG00438.hp1
HG00597.hp1
others(43): Show 
HG00423.hp2
HG00438.hp1
HG00597.hp1
HG00741.hp1
HG01070.hp2
HG01071.hp2
HG01081.hp2
HG01123.hp2
HG01256.hp1
HG01257.hp1
HG01257.hp2
HG01346.hp1
HG01516.hp2
HG01517.hp2
HG01975.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp2
HG02109.hp2
HG02148.hp1
HG02257.hp1
HG02451.hp2
HG02523.hp2
HG02615.hp1
HG02630.hp2
HG02818.hp1
HG02886.hp2
HG02922.hp1
HG03486.hp2
NA18939.hp1
NA18942.hp2
NA18950.hp2
NA18951.hp2
NA18955.hp1
NA18956.hp2
NA18977.hp2
NA18988.hp1
NA18998.hp2
NA19002.hp1
NA19010.hp1
NA19064.hp2
NA19065.hp1
NA19074.hp2
NA19085.hp1
NA21309.hp1
 intron_variant MODIFIER c.374+98_374+376del
c.374+98_374+376del
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chrX 1624474
chrX:1624479
C
C
 T
T
 1 a0001c0003t0001g0070
a0001c0003t0001g0070
 1 HG01884.hp2
HG01884.hp2
 intron_variant MODIFIER c.374+81C>T
c.374+81C>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 chrX 1624479
chrX:1624495
G
G
 GT
GT
 1 a0012c0007t0001g0036
a0012c0007t0001g0036
 1 NA19082.hp1
NA19082.hp1
 intron_variant MODIFIER c.374+98dupT
c.374+98dupT
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chrX 1624495
chrX:1624496
T
T
 G
G
 2 a0001c0001t0001g0016
a0001c0003t0001g0171
a0001c0001t0001g0016
a0001c0003t0001g0171
 2 HG02922.hp2
NA21309.hp2
HG02922.hp2
NA21309.hp2
 intron_variant MODIFIER c.374+98T>G
c.374+98T>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 chrX 1624496
chrX:1624502
A
A
 C
C
 2 a0001c0001t0001g0016
a0001c0003t0001g0171
a0001c0001t0001g0016
a0001c0003t0001g0171
 2 HG02922.hp2
NA21309.hp2
HG02922.hp2
NA21309.hp2
 intron_variant MODIFIER c.374+104A>C
c.374+104A>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 chrX 1624502
chrX:1624503
C
C
 A
A
 2 a0001c0001t0001g0016
a0001c0003t0001g0171
a0001c0001t0001g0016
a0001c0003t0001g0171
 2 HG02922.hp2
NA21309.hp2
HG02922.hp2
NA21309.hp2
 intron_variant MODIFIER c.374+105C>A
c.374+105C>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 chrX 1624503
chrX:1624505
C
C
 CCAGGCAG
others(241): Show 
CCAGGCAGATGCTGGGAGGTGGGGGCTGACCCCAGGCAGATGCTGGGAGG
TGGGGGCTGCACCCAGGCAGATGCTGGGAGGTGGGGGCTGCCCCCAGGCA
GATGCTGGGAGGTGGTGGCTGCACCCAGGCAGATGCTGGGAGGTGGGGGC
TGCCCCCAGGCAGATGCTGGGAGGTGGTGGCTGACCACAGGCAGATGCTG
GGAGGTGGGGGCTGACCCCAGGCAGATGCTGGGAGGTGGTGGCTGACCA
 1 a0002c0002t0002g0160
a0002c0002t0002g0160
 1 HG03516.hp2
HG03516.hp2
 intron_variant MODIFIER c.374+198_374+445dup
others(248): Show 
c.374+198_374+445dupCCCCAGGCAGATGCTGGGAGGTGGTGGCTG
CACCCAGGCAGATGCTGGGAGGTGGGGGCTGCCCCCAGGCAGATGCTGGG
AGGTGGTGGCTGACCACAGGCAGATGCTGGGAGGTGGGGGCTGACCCCAG
GCAGATGCTGGGAGGTGGTGGCTGACCACAGGCAGATGCTGGGAGGTGGG
GGCTGACCCCAGGCAGATGCTGGGAGGTGGGGGCTGCACCCAGGCAGATG
CTGGGAGGTGGGGGCTGC
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chrX 1624505
chrX:1624505
CCAGGCAG
others(241): Show 
CCAGGCAGATGCTGGGAGGTGGGGGCTGACCCCAGGCAGATGCTGGGAGG
TGGGGGCTGCACCCAGGCAGATGCTGGGAGGTGGGGGCTGCCCCCAGGCA
GATGCTGGGAGGTGGTGGCTGCACCCAGGCAGATGCTGGGAGGTGGGGGC
TGCCCCCAGGCAGATGCTGGGAGGTGGTGGCTGACCACAGGCAGATGCTG
GGAGGTGGGGGCTGACCCCAGGCAGATGCTGGGAGGTGGTGGCTGACCA
 C
C
 1 a0002c0002t0002g0181
a0002c0002t0002g0181
 1 HG00099.hp2
HG00099.hp2
 intron_variant MODIFIER c.374+198_374+445del
c.374+198_374+445del
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chrX 1624505
chrX:1624508
G
G
 GGCAGATG
others(237): Show 
GGCAGATGCTGGGAGGTGGGGGCTGACCCCAGGCAGATGCTGGAGGTGGG
GGCTGCACCCAGGCAGATGCTGGGAGGTGGGGGCTGCCCCCAGGCAGATG
CTGGGAGGTGGTGCTGCACCCAGGCAGATGCTGGAGGTGGGGGCTGCCCC
CAGGCAGATGCTGGGAGGTGGTGGCTGACCACAGGCAGATGCTGGGAGGT
GGGGGCTGCCCCCAGGCAGATGCTGGGAGGTGGTGGCTGACCCCA
 1 a0001c0003t0001g0093
a0001c0003t0001g0093
 1 NA18986.hp2
NA18986.hp2
 intron_variant MODIFIER c.374+152_374+153ins
others(244): Show 
c.374+152_374+153insAGGTGGGGGCTGCACCCAGGCAGATGCTGG
GAGGTGGGGGCTGCCCCCAGGCAGATGCTGGGAGGTGGTGCTGCACCCAG
GCAGATGCTGGAGGTGGGGGCTGCCCCCAGGCAGATGCTGGGAGGTGGTG
GCTGACCACAGGCAGATGCTGGGAGGTGGGGGCTGCCCCCAGGCAGATGC
TGGGAGGTGGTGGCTGACCCCAGCAGATGCTGGGAGGTGGGGGCTGACCC
CAGGCAGATGCTGG
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chrX 1624508
chrX:1624533
A
A
 C
C
 3 a0001c0001t0001g0016
a0001c0001t0002g0141
a0001c0003t0001g0171
a0001c0001t0001g0016
a0001c0001t0002g0141
a0001c0003t0001g0171
 3 HG02922.hp2
HG03491.hp2
NA21309.hp2
HG02922.hp2
HG03491.hp2
NA21309.hp2
 intron_variant MODIFIER c.374+135A>C
c.374+135A>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 chrX 1624533
chrX:1624534
C
C
 A
A
 1 a0001c0001t0001g0016
a0001c0001t0001g0016
 1 HG02922.hp2
HG02922.hp2
 intron_variant MODIFIER c.374+136C>A
c.374+136C>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 chrX 1624534
chrX:1624534
CCCCAGGC
others(272): Show 
CCCCAGGCAGATGCTGGGAGGTGGGGGCTGCACCCAGGCAGATGCTGGGA
GGTGGGGGCTGCCCCCAGGCAGATGCTGGGAGGTGGTGGCTGCACCCAGG
CAGATGCTGGGAGGTGGGGGCTGCCCCCAGGCAGATGCTGGGAGGTGGTG
GCTGACCACAGGCAGATGCTGGGAGGTGGGGGCTGACCCCAGGCAGATGC
TGGGAGGTGGTGGCTGACCACAGGCAGATGCTGGGAGGTGGGGGCTGACC
CCAGGCAGATGCTGGGAGGTGGGGGCTGCA
 C
C
 9 a0001c0001t0001g0006
a0001c0001t0001g0008
a0001c0001t0001g0071
others(6): Show 
a0001c0001t0001g0006
a0001c0001t0001g0008
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0123
a0001c0001t0001g0211
a0001c0001t0001g0214
a0001c0001t0001g0215
a0002c0002t0001g0009
 9 HG01884.hp1
HG02622.hp1
HG02809.hp1
others(6): Show 
HG01884.hp1
HG02622.hp1
HG02809.hp1
HG02886.hp1
HG02896.hp1
HG03041.hp1
HG03453.hp2
HG03540.hp1
NA20129.hp1
 intron_variant MODIFIER c.374+198_374+476del
c.374+198_374+476del
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chrX 1624534
chrX:1624558
G
G
 T
T
 1 a0001c0003t0001g0171
a0001c0003t0001g0171
 1 NA21309.hp2
NA21309.hp2
 intron_variant MODIFIER c.374+160G>T
c.374+160G>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 chrX 1624558
chrX:1624558
GGGCTGCA
others(55): Show 
GGGCTGCACCCAGGCAGATGCTGGGAGGTGGGGGCTGCCCCCAGGCAGAT
GCTGGGAGGTGGT
 G
G
 2 a0001c0001t0001g0001
a0001c0001t0001g0158
a0001c0001t0001g0001
a0001c0001t0001g0158
 2 HG03195.hp2
NA19240.hp1
HG03195.hp2
NA19240.hp1
 intron_variant MODIFIER c.374+228_374+289del
others(62): Show 
c.374+228_374+289delCACCCAGGCAGATGCTGGGAGGTGGGGGCT
GCCCCCAGGCAGATGCTGGGAGGTGGTGGCTG
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chrX 1624558
chrX:1624564
C
C
 A
A
 1 a0001c0001t0001g0016
a0001c0001t0001g0016
 1 HG02922.hp2
HG02922.hp2
 intron_variant MODIFIER c.374+166C>A
c.374+166C>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 chrX 1624564
chrX:1624565
A
A
 C
C
 1 a0001c0001t0001g0016
a0001c0001t0001g0016
 1 HG02922.hp2
HG02922.hp2
 intron_variant MODIFIER c.374+167A>C
c.374+167A>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 chrX 1624565
chrX:1624567
CCAGGCAG
others(117): Show 
CCAGGCAGATGCTGGGAGGTGGGGGCTGCCCCCAGGCAGATGCTGGGAGG
TGGTGGCTGCACCCAGGCAGATGCTGGGAGGTGGGGGCTGCCCCCAGGCA
GATGCTGGGAGGTGGTGGCTGACCA
 C
C
 2 a0001c0001t0002g0144
a0001c0001t0002g0145
a0001c0001t0002g0144
a0001c0001t0002g0145
 2 HG06807.hp2
NA18906.hp2
HG06807.hp2
NA18906.hp2
 intron_variant MODIFIER c.374+197_374+320del
c.374+197_374+320del
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chrX 1624567
chrX:1624589
GGGCTGCC
others(24): Show 
GGGCTGCCCCCAGGCAGATGCTGGGAGGTGGT
 G
G
 1 a0001c0001t0001g0001
a0001c0001t0001g0001
 1 HG02559.hp1
HG02559.hp1
 intron_variant MODIFIER c.374+198_374+228del
others(31): Show 
c.374+198_374+228delCCCCAGGCAGATGCTGGGAGGTGGTGGCTG
C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chrX 1624589
chrX:1624595
C
C
 A
A
 1 a0001c0003t0001g0070
a0001c0003t0001g0070
 1 HG01884.hp2
HG01884.hp2
 intron_variant MODIFIER c.374+197C>A
c.374+197C>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 chrX 1624595
chrX:1624596
C
C
 A
A
 18 a0001c0001t0001g0005
a0001c0001t0001g0016
a0001c0001t0001g0017
others(15): Show 
a0001c0001t0001g0005
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0019
a0001c0001t0001g0021
a0001c0001t0001g0068
a0001c0001t0001g0084
a0001c0001t0001g0086
a0001c0001t0002g0152
a0001c0001t0002g0164
a0001c0001t0003g0090
a0001c0001t0005g0165
a0001c0003t0001g0023
a0002c0002t0001g0020
a0002c0002t0001g0031
a0002c0002t0001g0054
a0002c0002t0001g0085
a0013c0017t0001g0111
 18 HG00741.hp2
HG01175.hp1
HG01346.hp2
others(15): Show 
HG00741.hp2
HG01175.hp1
HG01346.hp2
HG02004.hp1
HG02273.hp1
HG02280.hp1
HG02523.hp1
HG02602.hp2
HG02818.hp2
HG02922.hp2
HG03195.hp1
HG03704.hp1
NA18947.hp2
NA18950.hp1
NA18974.hp1
NA18980.hp2
NA19081.hp2
NA20300.hp1
 intron_variant MODIFIER c.374+198C>A
c.374+198C>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 chrX 1624596
chrX:1624598
CCAGGCAG
others(86): Show 
CCAGGCAGATGCTGGGAGGTGGTGGCTGCACCCAGGCAGATGCTGGGAGG
TGGGGGCTGCCCCCAGGCAGATGCTGGGAGGTGGTGGCTGACCA
 C
C
 12 a0001c0001t0001g0005
a0001c0001t0001g0068
a0001c0001t0001g0084
others(9): Show 
a0001c0001t0001g0005
a0001c0001t0001g0068
a0001c0001t0001g0084
a0001c0001t0001g0086
a0001c0001t0002g0152
a0001c0001t0002g0164
a0001c0001t0005g0165
a0001c0003t0001g0023
a0002c0002t0001g0031
a0002c0002t0001g0054
a0002c0002t0001g0085
a0013c0017t0001g0111
 12 HG01175.hp1
HG01346.hp2
HG02004.hp1
others(9): Show 
HG01175.hp1
HG01346.hp2
HG02004.hp1
HG02273.hp1
HG02523.hp1
HG02602.hp2
HG03704.hp1
NA18947.hp2
NA18950.hp1
NA18974.hp1
NA18980.hp2
NA19081.hp2
 intron_variant MODIFIER c.374+222_374+314del
others(93): Show 
c.374+222_374+314delTGGCTGCACCCAGGCAGATGCTGGGAGGTG
GGGGCTGCCCCCAGGCAGATGCTGGGAGGTGGTGGCTGACCACAGGCAGA
TGCTGGGAGGTGG
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chrX 1624598
chrX:1624598
CCAGGCAG
others(148): Show 
CCAGGCAGATGCTGGGAGGTGGTGGCTGCACCCAGGCAGATGCTGGGAGG
TGGGGGCTGCCCCCAGGCAGATGCTGGGAGGTGGTGGCTGACCACAGGCA
GATGCTGGGAGGTGGGGGCTGACCCCAGGCAGATGCTGGGAGGTGGTGGC
TGACCA
 C
C
 1 a0001c0001t0001g0016
a0001c0001t0001g0016
 1 HG02922.hp2
HG02922.hp2
 intron_variant MODIFIER c.374+222_374+376del
c.374+222_374+376del
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chrX 1624598
chrX:1624620
T
T
 G
G
 5 a0001c0001t0001g0017
a0001c0001t0001g0019
a0001c0001t0001g0021
others(2): Show 
a0001c0001t0001g0017
a0001c0001t0001g0019
a0001c0001t0001g0021
a0001c0001t0003g0090
a0002c0002t0001g0020
 5 HG00741.hp2
HG02280.hp1
HG02818.hp2
others(2): Show 
HG00741.hp2
HG02280.hp1
HG02818.hp2
HG03195.hp1
NA20300.hp1
 intron_variant MODIFIER c.374+222T>G
c.374+222T>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 chrX 1624620
chrX:1624620
TGGCTGCA
others(148): Show 
TGGCTGCACCCAGGCAGATGCTGGGAGGTGGGGGCTGCCCCCAGGCAGAT
GCTGGGAGGTGGTGGCTGACCACAGGCAGATGCTGGGAGGTGGGGGCTGA
CCCCAGGCAGATGCTGGGAGGTGGTGGCTGACCACAGGCAGATGCTGGGA
GGTGGG
 T
T
 1 a0001c0003t0001g0070
a0001c0003t0001g0070
 1 HG01884.hp2
HG01884.hp2
 intron_variant MODIFIER c.374+228_374+382del
c.374+228_374+382del
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chrX 1624620
chrX:1624627
A
A
 C
C
 2 a0001c0001t0002g0196
a0002c0002t0002g0216
a0001c0001t0002g0196
a0002c0002t0002g0216
 2 HG01123.hp1
homoSapiens_chm13v2.hp1
HG01123.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.374+229A>C
c.374+229A>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 chrX 1624627
chrX:1624656
GC
GC
 G
G
 1 a0012c0007t0001g0036
a0012c0007t0001g0036
 1 NA19082.hp1
NA19082.hp1
 intron_variant MODIFIER c.374+263delC
c.374+263delC
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chrX 1624656
chrX:1624657
C
C
 A
A
 1 a0001c0001t0001g0001
a0001c0001t0001g0001
 1 HG02559.hp1
HG02559.hp1
 intron_variant MODIFIER c.374+259C>A
c.374+259C>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 chrX 1624657
chrX:1624657
CCCCCAGG
others(55): Show 
CCCCCAGGCAGATGCTGGGAGGTGGTGGCTGACCACAGGCAGATGCTGGG
AGGTGGGGGCTGA
 C
C
 6 a0001c0001t0001g0017
a0001c0001t0001g0019
a0001c0001t0001g0021
others(3): Show 
a0001c0001t0001g0017
a0001c0001t0001g0019
a0001c0001t0001g0021
a0001c0001t0003g0090
a0001c0003t0001g0113
a0002c0002t0001g0020
 6 HG00741.hp2
HG02280.hp1
HG02818.hp2
others(3): Show 
HG00741.hp2
HG02280.hp1
HG02818.hp2
HG03195.hp1
NA18956.hp1
NA20300.hp1
 intron_variant MODIFIER c.374+346_374+407del
others(62): Show 
c.374+346_374+407delTGGCTGACCACAGGCAGATGCTGGGAGGTG
GGGGCTGACCCCAGGCAGATGCTGGGAGGTGG
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chrX 1624657
chrX:1624658
C
C
 A
A
 2 a0001c0001t0001g0001
a0001c0001t0001g0158
a0001c0001t0001g0001
a0001c0001t0001g0158
 2 HG03195.hp2
NA19240.hp1
HG03195.hp2
NA19240.hp1
 intron_variant MODIFIER c.374+260C>A
c.374+260C>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 chrX 1624658
chrX:1624660
CCAGGCAG
others(24): Show 
CCAGGCAGATGCTGGGAGGTGGTGGCTGACCA
 C
C
 1 a0001c0001t0001g0001
a0001c0001t0001g0001
 1 HG02559.hp1
HG02559.hp1
 intron_variant MODIFIER c.374+284_374+314del
others(31): Show 
c.374+284_374+314delTGGCTGACCACAGGCAGATGCTGGGAGGTG
G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chrX 1624660
chrX:1624661
C
C
 G
G
 2 a0002c0002t0001g0175
a0006c0011t0001g0139
a0002c0002t0001g0175
a0006c0011t0001g0139
 2 HG02559.hp2
NA19240.hp2
HG02559.hp2
NA19240.hp2
 intron_variant MODIFIER c.374+263C>G
c.374+263C>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 chrX 1624661
chrX:1624678
G
G
 GGT
GGT
 1 a0012c0007t0001g0036
a0012c0007t0001g0036
 1 NA19082.hp1
NA19082.hp1
 intron_variant MODIFIER c.374+280_374+281ins
others(2): Show 
c.374+280_374+281insGT
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 chrX 1624678
chrX:1624679
T
T
 G
G
 1 a0012c0007t0001g0036
a0012c0007t0001g0036
 1 NA19082.hp1
NA19082.hp1
 intron_variant MODIFIER c.374+281T>G
c.374+281T>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 chrX 1624679
chrX:1624682
T
T
 G
G
 2 a0001c0001t0001g0001
a0001c0001t0001g0158
a0001c0001t0001g0001
a0001c0001t0001g0158
 2 HG03195.hp2
NA19240.hp1
HG03195.hp2
NA19240.hp1
 intron_variant MODIFIER c.374+284T>G
c.374+284T>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 chrX 1624682
chrX:1624682
TGGCTGAC
others(148): Show 
TGGCTGACCACAGGCAGATGCTGGGAGGTGGGGGCTGACCCCAGGCAGAT
GCTGGGAGGTGGTGGCTGACCACAGGCAGATGCTGGGAGGTGGGGGCTGA
CCCCAGGCAGATGCTGGGAGGTGGGGGCTGCACCCAGGCAGATGCTGGGA
GGTGGG
 T
T
 1 a0001c0003t0001g0171
a0001c0003t0001g0171
 1 NA21309.hp2
NA21309.hp2
 intron_variant MODIFIER c.374+290_374+444del
c.374+290_374+444del
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chrX 1624682
chrX:1624687
GAC
GAC
 G
G
 69 a0001c0001t0001g0027
a0001c0001t0001g0035
a0001c0001t0001g0040
others(66): Show 
a0001c0001t0001g0027
a0001c0001t0001g0035
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0049
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0083
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0206
a0001c0001t0002g0039
a0001c0001t0002g0120
a0001c0001t0002g0132
a0001c0001t0002g0135
a0001c0001t0002g0147
a0001c0001t0002g0153
a0001c0001t0002g0161
a0001c0001t0002g0167
a0001c0001t0002g0168
a0001c0001t0002g0170
a0001c0001t0002g0176
a0001c0001t0002g0184
a0001c0001t0002g0190
a0001c0003t0001g0038
a0001c0003t0001g0050
a0001c0003t0001g0051
a0001c0003t0001g0059
a0001c0003t0001g0094
a0001c0003t0001g0107
a0001c0003t0002g0149
a0001c0003t0002g0150
a0001c0003t0002g0182
a0002c0002t0001g0003
a0002c0002t0001g0015
a0002c0002t0001g0057
a0002c0002t0001g0066
a0002c0002t0001g0073
a0002c0002t0001g0089
a0002c0002t0001g0095
a0002c0002t0001g0099
a0002c0002t0001g0108
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0124
a0002c0002t0001g0125
a0002c0002t0001g0127
a0002c0002t0001g0129
a0002c0002t0001g0130
a0002c0002t0001g0151
a0002c0002t0001g0220
a0002c0002t0001g0222
a0002c0002t0002g0096
a0002c0002t0002g0112
a0002c0002t0002g0146
a0002c0002t0002g0154
a0002c0002t0002g0156
a0002c0002t0002g0166
a0002c0002t0002g0172
a0002c0002t0002g0186
a0002c0002t0002g0188
a0002c0002t0002g0207
a0002c0002t0002g0213
a0004c0004t0004g0148
a0009c0014t0002g0075
 69 HG00099.hp1
HG00323.hp1
HG00423.hp1
others(66): Show 
HG00099.hp1
HG00323.hp1
HG00423.hp1
HG00438.hp2
HG00639.hp1
HG00639.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG01361.hp1
HG01361.hp2
HG01496.hp2
HG01516.hp1
HG01517.hp1
HG01978.hp1
HG02004.hp2
HG02080.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02257.hp2
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02615.hp2
HG02683.hp1
HG02683.hp2
HG02723.hp2
HG02896.hp2
HG03239.hp1
HG03669.hp1
HG03831.hp2
HG03927.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp2
NA18939.hp2
NA18941.hp1
NA18949.hp1
NA18949.hp2
NA18951.hp1
NA18954.hp1
NA18954.hp2
NA18963.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp2
NA18973.hp1
NA18975.hp1
NA18975.hp2
NA18981.hp1
NA18981.hp2
NA18985.hp1
NA18998.hp1
NA18999.hp2
NA19003.hp1
NA19003.hp2
NA19010.hp2
NA19011.hp1
NA19057.hp1
NA19057.hp2
NA19065.hp2
NA19077.hp1
NA19077.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
 intron_variant MODIFIER c.374+290_374+291del
others(2): Show 
c.374+290_374+291delAC
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 chrX 1624687
chrX:1624688
A
A
 C
C
 28 a0001c0001t0001g0014
a0001c0001t0001g0081
a0001c0001t0001g0204
others(25): Show 
a0001c0001t0001g0014
a0001c0001t0001g0081
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0209
a0001c0001t0002g0140
a0001c0001t0002g0141
a0001c0001t0002g0201
a0001c0003t0001g0022
a0001c0003t0001g0091
a0001c0003t0002g0142
a0002c0002t0001g0002
a0002c0002t0001g0026
a0002c0002t0001g0069
a0002c0002t0001g0122
a0002c0002t0001g0175
a0002c0002t0001g0185
a0002c0002t0001g0208
a0002c0002t0001g0210
a0002c0002t0002g0131
a0002c0002t0002g0159
a0002c0006t0001g0187
a0002c0010t0001g0010
a0003c0009t0001g0011
a0004c0004t0001g0169
a0005c0016t0001g0045
a0006c0011t0001g0139
a0010c0015t0002g0179
 28 HG00544.hp2
HG00597.hp2
HG01496.hp1
others(25): Show 
HG00544.hp2
HG00597.hp2
HG01496.hp1
HG01891.hp1
HG01993.hp1
HG02080.hp2
HG02109.hp1
HG02273.hp2
HG02559.hp2
HG02622.hp2
HG02630.hp1
HG02723.hp1
HG02809.hp2
HG02976.hp1
HG03453.hp1
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03540.hp2
HG06807.hp1
NA18906.hp1
NA18992.hp1
NA19030.hp1
NA19030.hp2
NA19064.hp1
NA19072.hp2
NA19074.hp1
NA19240.hp2
 intron_variant MODIFIER c.374+290A>C
c.374+290A>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 chrX 1624688
chrX:1624689
C
C
 A
A
 28 a0001c0001t0001g0014
a0001c0001t0001g0081
a0001c0001t0001g0204
others(25): Show 
a0001c0001t0001g0014
a0001c0001t0001g0081
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0209
a0001c0001t0002g0140
a0001c0001t0002g0141
a0001c0001t0002g0201
a0001c0003t0001g0022
a0001c0003t0001g0091
a0001c0003t0002g0142
a0002c0002t0001g0002
a0002c0002t0001g0026
a0002c0002t0001g0069
a0002c0002t0001g0122
a0002c0002t0001g0175
a0002c0002t0001g0185
a0002c0002t0001g0208
a0002c0002t0001g0210
a0002c0002t0002g0131
a0002c0002t0002g0159
a0002c0006t0001g0187
a0002c0010t0001g0010
a0003c0009t0001g0011
a0004c0004t0001g0169
a0005c0016t0001g0045
a0006c0011t0001g0139
a0010c0015t0002g0179
 28 HG00544.hp2
HG00597.hp2
HG01496.hp1
others(25): Show 
HG00544.hp2
HG00597.hp2
HG01496.hp1
HG01891.hp1
HG01993.hp1
HG02080.hp2
HG02109.hp1
HG02273.hp2
HG02559.hp2
HG02622.hp2
HG02630.hp1
HG02723.hp1
HG02809.hp2
HG02976.hp1
HG03453.hp1
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03540.hp2
HG06807.hp1
NA18906.hp1
NA18992.hp1
NA19030.hp1
NA19030.hp2
NA19064.hp1
NA19072.hp2
NA19074.hp1
NA19240.hp2
 intron_variant MODIFIER c.374+291C>A
c.374+291C>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 chrX 1624689
chrX:1624691
A
A
 C
C
 30 a0001c0001t0001g0001
a0001c0001t0001g0014
a0001c0001t0001g0081
others(27): Show 
a0001c0001t0001g0001
a0001c0001t0001g0014
a0001c0001t0001g0081
a0001c0001t0001g0158
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0209
a0001c0001t0002g0140
a0001c0001t0002g0141
a0001c0001t0002g0201
a0001c0003t0001g0022
a0001c0003t0001g0091
a0001c0003t0002g0142
a0002c0002t0001g0002
a0002c0002t0001g0026
a0002c0002t0001g0069
a0002c0002t0001g0122
a0002c0002t0001g0175
a0002c0002t0001g0185
a0002c0002t0001g0208
a0002c0002t0001g0210
a0002c0002t0002g0131
a0002c0002t0002g0159
a0002c0006t0001g0187
a0002c0010t0001g0010
a0003c0009t0001g0011
a0004c0004t0001g0169
a0005c0016t0001g0045
a0006c0011t0001g0139
a0010c0015t0002g0179
 30 HG00544.hp2
HG00597.hp2
HG01496.hp1
others(27): Show 
HG00544.hp2
HG00597.hp2
HG01496.hp1
HG01891.hp1
HG01993.hp1
HG02080.hp2
HG02109.hp1
HG02273.hp2
HG02559.hp2
HG02622.hp2
HG02630.hp1
HG02723.hp1
HG02809.hp2
HG02976.hp1
HG03195.hp2
HG03453.hp1
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03540.hp2
HG06807.hp1
NA18906.hp1
NA18992.hp1
NA19030.hp1
NA19030.hp2
NA19064.hp1
NA19072.hp2
NA19074.hp1
NA19240.hp1
NA19240.hp2
 intron_variant MODIFIER c.374+293A>C
c.374+293A>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 chrX 1624691
chrX:1624691
ACAGGCAG
others(84): Show 
ACAGGCAGATGCTGGGAGGTGGGGGCTGACCCCAGGCAGATGCTGGGAGG
TGGTGGCTGACCACAGGCAGATGCTGGGAGGTGGGGGCTGAC
 A
A
 69 a0001c0001t0001g0027
a0001c0001t0001g0035
a0001c0001t0001g0040
others(66): Show 
a0001c0001t0001g0027
a0001c0001t0001g0035
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0049
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0083
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0206
a0001c0001t0002g0039
a0001c0001t0002g0120
a0001c0001t0002g0132
a0001c0001t0002g0135
a0001c0001t0002g0147
a0001c0001t0002g0153
a0001c0001t0002g0161
a0001c0001t0002g0167
a0001c0001t0002g0168
a0001c0001t0002g0170
a0001c0001t0002g0176
a0001c0001t0002g0184
a0001c0001t0002g0190
a0001c0003t0001g0038
a0001c0003t0001g0050
a0001c0003t0001g0051
a0001c0003t0001g0059
a0001c0003t0001g0094
a0001c0003t0001g0107
a0001c0003t0002g0149
a0001c0003t0002g0150
a0001c0003t0002g0182
a0002c0002t0001g0003
a0002c0002t0001g0015
a0002c0002t0001g0057
a0002c0002t0001g0066
a0002c0002t0001g0073
a0002c0002t0001g0089
a0002c0002t0001g0095
a0002c0002t0001g0099
a0002c0002t0001g0108
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0124
a0002c0002t0001g0125
a0002c0002t0001g0127
a0002c0002t0001g0129
a0002c0002t0001g0130
a0002c0002t0001g0151
a0002c0002t0001g0220
a0002c0002t0001g0222
a0002c0002t0002g0096
a0002c0002t0002g0112
a0002c0002t0002g0146
a0002c0002t0002g0154
a0002c0002t0002g0156
a0002c0002t0002g0166
a0002c0002t0002g0172
a0002c0002t0002g0186
a0002c0002t0002g0188
a0002c0002t0002g0207
a0002c0002t0002g0213
a0004c0004t0004g0148
a0009c0014t0002g0075
 69 HG00099.hp1
HG00323.hp1
HG00423.hp1
others(66): Show 
HG00099.hp1
HG00323.hp1
HG00423.hp1
HG00438.hp2
HG00639.hp1
HG00639.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG01361.hp1
HG01361.hp2
HG01496.hp2
HG01516.hp1
HG01517.hp1
HG01978.hp1
HG02004.hp2
HG02080.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02257.hp2
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02615.hp2
HG02683.hp1
HG02683.hp2
HG02723.hp2
HG02896.hp2
HG03239.hp1
HG03669.hp1
HG03831.hp2
HG03927.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp2
NA18939.hp2
NA18941.hp1
NA18949.hp1
NA18949.hp2
NA18951.hp1
NA18954.hp1
NA18954.hp2
NA18963.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp2
NA18973.hp1
NA18975.hp1
NA18975.hp2
NA18981.hp1
NA18981.hp2
NA18985.hp1
NA18998.hp1
NA18999.hp2
NA19003.hp1
NA19003.hp2
NA19010.hp2
NA19011.hp1
NA19057.hp1
NA19057.hp2
NA19065.hp2
NA19077.hp1
NA19077.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
 intron_variant MODIFIER c.374+295_374+385del
others(91): Show 
c.374+295_374+385delAGGCAGATGCTGGGAGGTGGGGGCTGACCC
CAGGCAGATGCTGGGAGGTGGTGGCTGACCACAGGCAGATGCTGGGAGGT
GGGGGCTGACC
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chrX 1624691
chrX:1624714
G
G
 C
C
 2 a0001c0001t0001g0001
a0001c0001t0001g0158
a0001c0001t0001g0001
a0001c0001t0001g0158
 3 HG02559.hp1
HG03195.hp2
NA19240.hp1
HG02559.hp1
HG03195.hp2
NA19240.hp1
 intron_variant MODIFIER c.374+316G>C
c.374+316G>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 chrX 1624714
chrX:1624719
A
A
 C
C
 30 a0001c0001t0001g0001
a0001c0001t0001g0014
a0001c0001t0001g0081
others(27): Show 
a0001c0001t0001g0001
a0001c0001t0001g0014
a0001c0001t0001g0081
a0001c0001t0001g0158
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0209
a0001c0001t0002g0140
a0001c0001t0002g0141
a0001c0001t0002g0201
a0001c0003t0001g0022
a0001c0003t0001g0091
a0001c0003t0002g0142
a0002c0002t0001g0002
a0002c0002t0001g0026
a0002c0002t0001g0069
a0002c0002t0001g0122
a0002c0002t0001g0175
a0002c0002t0001g0185
a0002c0002t0001g0208
a0002c0002t0001g0210
a0002c0002t0002g0131
a0002c0002t0002g0159
a0002c0006t0001g0187
a0002c0010t0001g0010
a0003c0009t0001g0011
a0004c0004t0001g0169
a0005c0016t0001g0045
a0006c0011t0001g0139
a0010c0015t0002g0179
 31 HG00544.hp2
HG00597.hp2
HG01496.hp1
others(28): Show 
HG00544.hp2
HG00597.hp2
HG01496.hp1
HG01891.hp1
HG01993.hp1
HG02080.hp2
HG02109.hp1
HG02273.hp2
HG02559.hp1
HG02559.hp2
HG02622.hp2
HG02630.hp1
HG02723.hp1
HG02809.hp2
HG02976.hp1
HG03195.hp2
HG03453.hp1
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03540.hp2
HG06807.hp1
NA18906.hp1
NA18992.hp1
NA19030.hp1
NA19030.hp2
NA19064.hp1
NA19072.hp2
NA19074.hp1
NA19240.hp1
NA19240.hp2
 intron_variant MODIFIER c.374+321A>C
c.374+321A>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 chrX 1624719
chrX:1624720
C
C
 A
A
 2 a0001c0001t0001g0001
a0001c0001t0001g0158
a0001c0001t0001g0001
a0001c0001t0001g0158
 3 HG02559.hp1
HG03195.hp2
NA19240.hp1
HG02559.hp1
HG03195.hp2
NA19240.hp1
 intron_variant MODIFIER c.374+322C>A
c.374+322C>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 chrX 1624720
chrX:1624744
T
T
 G
G
 21 a0001c0001t0001g0001
a0001c0001t0001g0005
a0001c0001t0001g0017
others(18): Show 
a0001c0001t0001g0001
a0001c0001t0001g0005
a0001c0001t0001g0017
a0001c0001t0001g0019
a0001c0001t0001g0021
a0001c0001t0001g0068
a0001c0001t0001g0084
a0001c0001t0001g0086
a0001c0001t0001g0158
a0001c0001t0002g0144
a0001c0001t0002g0145
a0001c0001t0002g0152
a0001c0001t0002g0164
a0001c0001t0003g0090
a0001c0001t0005g0165
a0001c0003t0001g0023
a0002c0002t0001g0020
a0002c0002t0001g0031
a0002c0002t0001g0054
a0002c0002t0001g0085
a0013c0017t0001g0111
 22 HG00741.hp2
HG01175.hp1
HG01346.hp2
others(19): Show 
HG00741.hp2
HG01175.hp1
HG01346.hp2
HG02004.hp1
HG02273.hp1
HG02280.hp1
HG02523.hp1
HG02559.hp1
HG02602.hp2
HG02818.hp2
HG03195.hp1
HG03195.hp2
HG03704.hp1
HG06807.hp2
NA18906.hp2
NA18947.hp2
NA18950.hp1
NA18974.hp1
NA18980.hp2
NA19081.hp2
NA19240.hp1
NA20300.hp1
 intron_variant MODIFIER c.374+346T>G
c.374+346T>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 chrX 1624744
chrX:1624745
G
G
 C
C
 12 a0001c0001t0001g0005
a0001c0001t0001g0068
a0001c0001t0001g0084
others(9): Show 
a0001c0001t0001g0005
a0001c0001t0001g0068
a0001c0001t0001g0084
a0001c0001t0001g0086
a0001c0001t0002g0152
a0001c0001t0002g0164
a0001c0001t0005g0165
a0001c0003t0001g0023
a0002c0002t0001g0031
a0002c0002t0001g0054
a0002c0002t0001g0085
a0013c0017t0001g0111
 12 HG01175.hp1
HG01346.hp2
HG02004.hp1
others(9): Show 
HG01175.hp1
HG01346.hp2
HG02004.hp1
HG02273.hp1
HG02523.hp1
HG02602.hp2
HG03704.hp1
NA18947.hp2
NA18950.hp1
NA18974.hp1
NA18980.hp2
NA19081.hp2
 intron_variant MODIFIER c.374+347G>C
c.374+347G>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 chrX 1624745
chrX:1624750
A
A
 C
C
 17 a0001c0001t0001g0005
a0001c0001t0001g0017
a0001c0001t0001g0019
others(14): Show 
a0001c0001t0001g0005
a0001c0001t0001g0017
a0001c0001t0001g0019
a0001c0001t0001g0021
a0001c0001t0001g0068
a0001c0001t0001g0084
a0001c0001t0001g0086
a0001c0001t0002g0152
a0001c0001t0002g0164
a0001c0001t0003g0090
a0001c0001t0005g0165
a0001c0003t0001g0023
a0002c0002t0001g0020
a0002c0002t0001g0031
a0002c0002t0001g0054
a0002c0002t0001g0085
a0013c0017t0001g0111
 17 HG00741.hp2
HG01175.hp1
HG01346.hp2
others(14): Show 
HG00741.hp2
HG01175.hp1
HG01346.hp2
HG02004.hp1
HG02273.hp1
HG02280.hp1
HG02523.hp1
HG02602.hp2
HG02818.hp2
HG03195.hp1
HG03704.hp1
NA18947.hp2
NA18950.hp1
NA18974.hp1
NA18980.hp2
NA19081.hp2
NA20300.hp1
 intron_variant MODIFIER c.374+352A>C
c.374+352A>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 chrX 1624750
chrX:1624751
C
C
 A
A
 17 a0001c0001t0001g0005
a0001c0001t0001g0017
a0001c0001t0001g0019
others(14): Show 
a0001c0001t0001g0005
a0001c0001t0001g0017
a0001c0001t0001g0019
a0001c0001t0001g0021
a0001c0001t0001g0068
a0001c0001t0001g0084
a0001c0001t0001g0086
a0001c0001t0002g0152
a0001c0001t0002g0164
a0001c0001t0003g0090
a0001c0001t0005g0165
a0001c0003t0001g0023
a0002c0002t0001g0020
a0002c0002t0001g0031
a0002c0002t0001g0054
a0002c0002t0001g0085
a0013c0017t0001g0111
 17 HG00741.hp2
HG01175.hp1
HG01346.hp2
others(14): Show 
HG00741.hp2
HG01175.hp1
HG01346.hp2
HG02004.hp1
HG02273.hp1
HG02280.hp1
HG02523.hp1
HG02602.hp2
HG02818.hp2
HG03195.hp1
HG03704.hp1
NA18947.hp2
NA18950.hp1
NA18974.hp1
NA18980.hp2
NA19081.hp2
NA20300.hp1
 intron_variant MODIFIER c.374+353C>A
c.374+353C>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 chrX 1624751
chrX:1624753
A
A
 C
C
 36 a0001c0001t0001g0001
a0001c0001t0001g0005
a0001c0001t0001g0017
others(33): Show 
a0001c0001t0001g0001
a0001c0001t0001g0005
a0001c0001t0001g0017
a0001c0001t0001g0019
a0001c0001t0001g0021
a0001c0001t0001g0068
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0086
a0001c0001t0001g0158
a0001c0001t0002g0140
a0001c0001t0002g0141
a0001c0001t0002g0152
a0001c0001t0002g0164
a0001c0001t0002g0201
a0001c0001t0003g0090
a0001c0001t0005g0165
a0001c0003t0001g0023
a0001c0003t0001g0091
a0001c0003t0002g0142
a0002c0002t0001g0020
a0002c0002t0001g0026
a0002c0002t0001g0031
a0002c0002t0001g0054
a0002c0002t0001g0085
a0002c0002t0001g0122
a0002c0002t0001g0175
a0002c0002t0001g0185
a0002c0002t0002g0131
a0002c0006t0001g0187
a0002c0010t0001g0010
a0004c0004t0001g0169
a0005c0016t0001g0045
a0006c0011t0001g0139
a0010c0015t0002g0179
a0013c0017t0001g0111
 37 HG00544.hp2
HG00597.hp2
HG00741.hp2
others(34): Show 
HG00544.hp2
HG00597.hp2
HG00741.hp2
HG01175.hp1
HG01346.hp2
HG01496.hp1
HG01993.hp1
HG02004.hp1
HG02080.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02523.hp1
HG02559.hp1
HG02559.hp2
HG02602.hp2
HG02622.hp2
HG02818.hp2
HG03195.hp1
HG03195.hp2
HG03491.hp1
HG03491.hp2
HG03540.hp2
HG03704.hp1
NA18947.hp2
NA18950.hp1
NA18974.hp1
NA18980.hp2
NA18992.hp1
NA19030.hp1
NA19064.hp1
NA19072.hp2
NA19074.hp1
NA19081.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp1
 intron_variant MODIFIER c.374+355A>C
c.374+355A>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 chrX 1624753
chrX:1624775
G
G
 GGGCTGAC
others(210): Show 
GGGCTGACCCCAGGCAGATGCTGGGAGGTGGGGGCTGCACCCAGGCAGAT
GCTGGGAGGTGGGGGCTGCCCCCAGGCAGATGCTGGGAGGTGGTGGCTGC
ACCCAGGCAGATGCTGGGAGGTGGGGGCTGCCCCGAGGCAGATGCTGGGA
GGTGGTGGCTGCACCCAGGCAGATGCTGGGAGGTGGGGGCTGCCCCCAGG
CAGATGCTGGGAGGTGGT
 1 a0002c0002t0001g0175
a0002c0002t0001g0175
 1 NA19240.hp2
NA19240.hp2
 intron_variant MODIFIER c.374+445_374+446ins
others(217): Show 
c.374+445_374+446insCCCCAGGCAGATGCTGGGAGGTGGTGGCTG
CACCCAGGCAGATGCTGGGAGGTGGGGGCTGCCCCGAGGCAGATGCTGGG
AGGTGGTGGCTGCACCCAGGCAGATGCTGGGAGGTGGGGGCTGCCCCCAG
GCAGATGCTGGGAGGTGGTGGCTGACCCCAGGCAGATGCTGGGAGGTGGG
GGCTGCACCCAGGCAGATGCTGGGAGGTGGGGGCTGC
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chrX 1624775
chrX:1624775
G
G
 T
T
 1 a0001c0001t0001g0204
a0001c0001t0001g0204
 1 HG02630.hp1
HG02630.hp1
 intron_variant MODIFIER c.374+377G>T
c.374+377G>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 chrX 1624775
chrX:1624781
A
A
 C
C
 46 a0001c0001t0001g0007
a0001c0001t0001g0012
a0001c0001t0001g0037
others(43): Show 
a0001c0001t0001g0007
a0001c0001t0001g0012
a0001c0001t0001g0037
a0001c0001t0001g0046
a0001c0001t0001g0053
a0001c0001t0001g0061
a0001c0001t0001g0063
a0001c0001t0001g0079
a0001c0001t0001g0082
a0001c0001t0001g0097
a0001c0001t0001g0100
a0001c0001t0001g0102
a0001c0001t0001g0103
a0001c0001t0001g0118
a0001c0001t0001g0174
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0203
a0001c0001t0002g0134
a0001c0001t0002g0143
a0001c0001t0002g0180
a0001c0001t0002g0200
a0001c0001t0002g0218
a0001c0003t0001g0013
a0001c0003t0001g0062
a0001c0003t0001g0080
a0001c0003t0001g0219
a0001c0003t0002g0133
a0001c0003t0002g0155
a0001c0003t0002g0173
a0002c0002t0001g0042
a0002c0002t0001g0044
a0002c0002t0001g0074
a0002c0002t0001g0098
a0002c0002t0001g0189
a0002c0002t0001g0221
a0002c0002t0002g0162
a0002c0002t0002g0163
a0002c0002t0002g0178
a0002c0002t0002g0191
a0002c0002t0002g0198
a0002c0002t0002g0199
a0003c0005t0001g0202
a0008c0013t0001g0101
a0011c0008t0001g0034
a0014c0018t0001g0060
 46 HG00423.hp2
HG00438.hp1
HG00597.hp1
others(43): Show 
HG00423.hp2
HG00438.hp1
HG00597.hp1
HG00741.hp1
HG01070.hp2
HG01071.hp2
HG01081.hp2
HG01123.hp2
HG01256.hp1
HG01257.hp1
HG01257.hp2
HG01346.hp1
HG01516.hp2
HG01517.hp2
HG01975.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp2
HG02109.hp2
HG02148.hp1
HG02257.hp1
HG02451.hp2
HG02523.hp2
HG02615.hp1
HG02630.hp2
HG02818.hp1
HG02886.hp2
HG02922.hp1
HG03486.hp2
NA18939.hp1
NA18942.hp2
NA18950.hp2
NA18951.hp2
NA18955.hp1
NA18956.hp2
NA18977.hp2
NA18988.hp1
NA18998.hp2
NA19002.hp1
NA19010.hp1
NA19064.hp2
NA19065.hp1
NA19074.hp2
NA19085.hp1
NA21309.hp1
 intron_variant MODIFIER c.374+383A>C
c.374+383A>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 chrX 1624781
chrX:1624782
C
C
 A
A
 46 a0001c0001t0001g0007
a0001c0001t0001g0012
a0001c0001t0001g0037
others(43): Show 
a0001c0001t0001g0007
a0001c0001t0001g0012
a0001c0001t0001g0037
a0001c0001t0001g0046
a0001c0001t0001g0053
a0001c0001t0001g0061
a0001c0001t0001g0063
a0001c0001t0001g0079
a0001c0001t0001g0082
a0001c0001t0001g0097
a0001c0001t0001g0100
a0001c0001t0001g0102
a0001c0001t0001g0103
a0001c0001t0001g0118
a0001c0001t0001g0174
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0203
a0001c0001t0002g0134
a0001c0001t0002g0143
a0001c0001t0002g0180
a0001c0001t0002g0200
a0001c0001t0002g0218
a0001c0003t0001g0013
a0001c0003t0001g0062
a0001c0003t0001g0080
a0001c0003t0001g0219
a0001c0003t0002g0133
a0001c0003t0002g0155
a0001c0003t0002g0173
a0002c0002t0001g0042
a0002c0002t0001g0044
a0002c0002t0001g0074
a0002c0002t0001g0098
a0002c0002t0001g0189
a0002c0002t0001g0221
a0002c0002t0002g0162
a0002c0002t0002g0163
a0002c0002t0002g0178
a0002c0002t0002g0191
a0002c0002t0002g0198
a0002c0002t0002g0199
a0003c0005t0001g0202
a0008c0013t0001g0101
a0011c0008t0001g0034
a0014c0018t0001g0060
 46 HG00423.hp2
HG00438.hp1
HG00597.hp1
others(43): Show 
HG00423.hp2
HG00438.hp1
HG00597.hp1
HG00741.hp1
HG01070.hp2
HG01071.hp2
HG01081.hp2
HG01123.hp2
HG01256.hp1
HG01257.hp1
HG01257.hp2
HG01346.hp1
HG01516.hp2
HG01517.hp2
HG01975.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp2
HG02109.hp2
HG02148.hp1
HG02257.hp1
HG02451.hp2
HG02523.hp2
HG02615.hp1
HG02630.hp2
HG02818.hp1
HG02886.hp2
HG02922.hp1
HG03486.hp2
NA18939.hp1
NA18942.hp2
NA18950.hp2
NA18951.hp2
NA18955.hp1
NA18956.hp2
NA18977.hp2
NA18988.hp1
NA18998.hp2
NA19002.hp1
NA19010.hp1
NA19064.hp2
NA19065.hp1
NA19074.hp2
NA19085.hp1
NA21309.hp1
 intron_variant MODIFIER c.374+384C>A
c.374+384C>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 chrX 1624782
chrX:1624782
C
C
 CCCCAGGC
others(24): Show 
CCCCAGGCAGATGCTGGGAGGTGGGGGCTGCA
 1 a0001c0001t0002g0196
a0001c0001t0002g0196
 1 HG01123.hp1
HG01123.hp1
 intron_variant MODIFIER c.374+476_374+506dup
others(31): Show 
c.374+476_374+506dupCACCCAGGCAGATGCTGGGAGGTGGGGGCT
G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chrX 1624782
chrX:1624782
CCCCAGGC
others(24): Show 
CCCCAGGCAGATGCTGGGAGGTGGGGGCTGCA
 C
C
 18 a0001c0001t0001g0081
a0001c0001t0002g0140
a0001c0001t0002g0141
others(15): Show 
a0001c0001t0001g0081
a0001c0001t0002g0140
a0001c0001t0002g0141
a0001c0001t0002g0144
a0001c0001t0002g0145
a0001c0001t0002g0201
a0001c0003t0001g0091
a0001c0003t0002g0142
a0002c0002t0001g0026
a0002c0002t0001g0122
a0002c0002t0001g0185
a0002c0002t0002g0131
a0002c0006t0001g0187
a0002c0010t0001g0010
a0004c0004t0001g0169
a0005c0016t0001g0045
a0006c0011t0001g0139
a0010c0015t0002g0179
 18 HG00544.hp2
HG00597.hp2
HG01496.hp1
others(15): Show 
HG00544.hp2
HG00597.hp2
HG01496.hp1
HG01993.hp1
HG02080.hp2
HG02273.hp2
HG02559.hp2
HG02622.hp2
HG03491.hp1
HG03491.hp2
HG03540.hp2
HG06807.hp2
NA18906.hp2
NA18992.hp1
NA19030.hp1
NA19064.hp1
NA19072.hp2
NA19074.hp1
 intron_variant MODIFIER c.374+476_374+506del
others(31): Show 
c.374+476_374+506delCACCCAGGCAGATGCTGGGAGGTGGGGGCT
G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chrX 1624782
chrX:1624784
C
C
 A
A
 2 a0001c0001t0001g0204
a0001c0003t0001g0070
a0001c0001t0001g0204
a0001c0003t0001g0070
 2 HG01884.hp2
HG02630.hp1
HG01884.hp2
HG02630.hp1
 intron_variant MODIFIER c.374+386C>A
c.374+386C>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 chrX 1624784
chrX:1624806
G
G
 T
T
 10 a0001c0001t0001g0014
a0001c0001t0001g0205
a0001c0001t0001g0209
others(7): Show 
a0001c0001t0001g0014
a0001c0001t0001g0205
a0001c0001t0001g0209
a0001c0003t0001g0022
a0002c0002t0001g0002
a0002c0002t0001g0069
a0002c0002t0001g0208
a0002c0002t0001g0210
a0002c0002t0002g0159
a0003c0009t0001g0011
 10 HG01891.hp1
HG02109.hp1
HG02723.hp1
others(7): Show 
HG01891.hp1
HG02109.hp1
HG02723.hp1
HG02809.hp2
HG02976.hp1
HG03453.hp1
HG03516.hp1
HG06807.hp1
NA18906.hp1
NA19030.hp2
 intron_variant MODIFIER c.374+408G>T
c.374+408G>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 chrX 1624806
chrX:1624807
G
G
 C
C
 6 a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0019
others(3): Show 
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0019
a0001c0001t0001g0021
a0001c0001t0003g0090
a0002c0002t0001g0020
 6 HG00741.hp2
HG02280.hp1
HG02818.hp2
others(3): Show 
HG00741.hp2
HG02280.hp1
HG02818.hp2
HG02922.hp2
HG03195.hp1
NA20300.hp1
 intron_variant MODIFIER c.374+409G>C
c.374+409G>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 chrX 1624807
chrX:1624812
C
C
 A
A
 25 a0001c0001t0001g0005
a0001c0001t0001g0014
a0001c0001t0001g0068
others(22): Show 
a0001c0001t0001g0005
a0001c0001t0001g0014
a0001c0001t0001g0068
a0001c0001t0001g0084
a0001c0001t0001g0086
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0209
a0001c0001t0002g0152
a0001c0001t0002g0164
a0001c0001t0005g0165
a0001c0003t0001g0022
a0001c0003t0001g0023
a0001c0003t0001g0070
a0002c0002t0001g0002
a0002c0002t0001g0031
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0085
a0002c0002t0001g0175
a0002c0002t0001g0208
a0002c0002t0001g0210
a0002c0002t0002g0159
a0003c0009t0001g0011
a0013c0017t0001g0111
 25 HG01175.hp1
HG01346.hp2
HG01884.hp2
others(22): Show 
HG01175.hp1
HG01346.hp2
HG01884.hp2
HG01891.hp1
HG02004.hp1
HG02109.hp1
HG02273.hp1
HG02523.hp1
HG02602.hp2
HG02630.hp1
HG02723.hp1
HG02809.hp2
HG02976.hp1
HG03453.hp1
HG03516.hp1
HG03704.hp1
HG06807.hp1
NA18906.hp1
NA18947.hp2
NA18950.hp1
NA18974.hp1
NA18980.hp2
NA19030.hp2
NA19081.hp2
NA19240.hp2
 intron_variant MODIFIER c.374+414C>A
c.374+414C>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 chrX 1624812
chrX:1624813
A
A
 C
C
 94 a0001c0001t0001g0005
a0001c0001t0001g0014
a0001c0001t0001g0027
others(91): Show 
a0001c0001t0001g0005
a0001c0001t0001g0014
a0001c0001t0001g0027
a0001c0001t0001g0035
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0049
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0068
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0086
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0209
a0001c0001t0002g0039
a0001c0001t0002g0120
a0001c0001t0002g0132
a0001c0001t0002g0135
a0001c0001t0002g0147
a0001c0001t0002g0152
a0001c0001t0002g0153
a0001c0001t0002g0161
a0001c0001t0002g0164
a0001c0001t0002g0167
a0001c0001t0002g0168
a0001c0001t0002g0170
a0001c0001t0002g0176
a0001c0001t0002g0184
a0001c0001t0002g0190
a0001c0001t0005g0165
a0001c0003t0001g0022
a0001c0003t0001g0023
a0001c0003t0001g0038
a0001c0003t0001g0050
a0001c0003t0001g0051
a0001c0003t0001g0059
a0001c0003t0001g0070
a0001c0003t0001g0094
a0001c0003t0001g0107
a0001c0003t0002g0149
a0001c0003t0002g0150
a0001c0003t0002g0182
a0002c0002t0001g0002
a0002c0002t0001g0003
a0002c0002t0001g0015
a0002c0002t0001g0031
a0002c0002t0001g0054
a0002c0002t0001g0057
a0002c0002t0001g0066
a0002c0002t0001g0069
a0002c0002t0001g0073
a0002c0002t0001g0085
a0002c0002t0001g0089
a0002c0002t0001g0095
a0002c0002t0001g0099
a0002c0002t0001g0108
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0124
a0002c0002t0001g0125
a0002c0002t0001g0127
a0002c0002t0001g0129
a0002c0002t0001g0130
a0002c0002t0001g0151
a0002c0002t0001g0175
a0002c0002t0001g0208
a0002c0002t0001g0210
a0002c0002t0001g0220
a0002c0002t0001g0222
a0002c0002t0002g0096
a0002c0002t0002g0112
a0002c0002t0002g0146
a0002c0002t0002g0154
a0002c0002t0002g0156
a0002c0002t0002g0159
a0002c0002t0002g0166
a0002c0002t0002g0172
a0002c0002t0002g0186
a0002c0002t0002g0188
a0002c0002t0002g0207
a0002c0002t0002g0213
a0003c0009t0001g0011
a0004c0004t0004g0148
a0009c0014t0002g0075
a0013c0017t0001g0111
 94 HG00099.hp1
HG00323.hp1
HG00423.hp1
others(91): Show 
HG00099.hp1
HG00323.hp1
HG00423.hp1
HG00438.hp2
HG00639.hp1
HG00639.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG01175.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01496.hp2
HG01516.hp1
HG01517.hp1
HG01884.hp2
HG01891.hp1
HG01978.hp1
HG02004.hp1
HG02004.hp2
HG02080.hp1
HG02109.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02257.hp2
HG02273.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02523.hp1
HG02602.hp2
HG02615.hp2
HG02630.hp1
HG02683.hp1
HG02683.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp2
HG02896.hp2
HG02976.hp1
HG03239.hp1
HG03453.hp1
HG03516.hp1
HG03669.hp1
HG03704.hp1
HG03831.hp2
HG03927.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp2
HG06807.hp1
NA18906.hp1
NA18939.hp2
NA18941.hp1
NA18947.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18951.hp1
NA18954.hp1
NA18954.hp2
NA18963.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp2
NA18973.hp1
NA18974.hp1
NA18975.hp1
NA18975.hp2
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18985.hp1
NA18998.hp1
NA18999.hp2
NA19003.hp1
NA19003.hp2
NA19010.hp2
NA19011.hp1
NA19030.hp2
NA19057.hp1
NA19057.hp2
NA19065.hp2
NA19077.hp1
NA19077.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19240.hp2
 intron_variant MODIFIER c.374+415A>C
c.374+415A>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 chrX 1624813
chrX:1624815
C
C
 A
A
 11 a0001c0001t0001g0014
a0001c0001t0001g0204
a0001c0001t0001g0205
others(8): Show 
a0001c0001t0001g0014
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0209
a0001c0003t0001g0022
a0002c0002t0001g0002
a0002c0002t0001g0069
a0002c0002t0001g0208
a0002c0002t0001g0210
a0002c0002t0002g0159
a0003c0009t0001g0011
 11 HG01891.hp1
HG02109.hp1
HG02630.hp1
others(8): Show 
HG01891.hp1
HG02109.hp1
HG02630.hp1
HG02723.hp1
HG02809.hp2
HG02976.hp1
HG03453.hp1
HG03516.hp1
HG06807.hp1
NA18906.hp1
NA19030.hp2
 intron_variant MODIFIER c.374+417C>A
c.374+417C>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 chrX 1624815
chrX:1624837
G
G
 T
T
 68 a0001c0001t0001g0027
a0001c0001t0001g0035
a0001c0001t0001g0040
others(65): Show 
a0001c0001t0001g0027
a0001c0001t0001g0035
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0049
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0083
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0206
a0001c0001t0002g0039
a0001c0001t0002g0120
a0001c0001t0002g0132
a0001c0001t0002g0135
a0001c0001t0002g0147
a0001c0001t0002g0153
a0001c0001t0002g0161
a0001c0001t0002g0167
a0001c0001t0002g0168
a0001c0001t0002g0170
a0001c0001t0002g0176
a0001c0001t0002g0190
a0001c0003t0001g0038
a0001c0003t0001g0050
a0001c0003t0001g0051
a0001c0003t0001g0059
a0001c0003t0001g0094
a0001c0003t0001g0107
a0001c0003t0002g0149
a0001c0003t0002g0150
a0001c0003t0002g0182
a0002c0002t0001g0003
a0002c0002t0001g0015
a0002c0002t0001g0057
a0002c0002t0001g0066
a0002c0002t0001g0073
a0002c0002t0001g0089
a0002c0002t0001g0095
a0002c0002t0001g0099
a0002c0002t0001g0108
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0124
a0002c0002t0001g0125
a0002c0002t0001g0127
a0002c0002t0001g0129
a0002c0002t0001g0130
a0002c0002t0001g0151
a0002c0002t0001g0220
a0002c0002t0001g0222
a0002c0002t0002g0096
a0002c0002t0002g0112
a0002c0002t0002g0146
a0002c0002t0002g0154
a0002c0002t0002g0156
a0002c0002t0002g0166
a0002c0002t0002g0172
a0002c0002t0002g0186
a0002c0002t0002g0188
a0002c0002t0002g0207
a0002c0002t0002g0213
a0004c0004t0004g0148
a0009c0014t0002g0075
 68 HG00099.hp1
HG00323.hp1
HG00423.hp1
others(65): Show 
HG00099.hp1
HG00323.hp1
HG00423.hp1
HG00438.hp2
HG00639.hp1
HG00639.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG01361.hp1
HG01361.hp2
HG01496.hp2
HG01516.hp1
HG01517.hp1
HG01978.hp1
HG02004.hp2
HG02080.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02257.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02615.hp2
HG02683.hp1
HG02683.hp2
HG02723.hp2
HG02896.hp2
HG03239.hp1
HG03669.hp1
HG03831.hp2
HG03927.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp2
NA18939.hp2
NA18941.hp1
NA18949.hp1
NA18949.hp2
NA18951.hp1
NA18954.hp1
NA18954.hp2
NA18963.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp2
NA18973.hp1
NA18975.hp1
NA18975.hp2
NA18981.hp1
NA18981.hp2
NA18985.hp1
NA18998.hp1
NA18999.hp2
NA19003.hp1
NA19003.hp2
NA19010.hp2
NA19011.hp1
NA19057.hp1
NA19057.hp2
NA19065.hp2
NA19077.hp1
NA19077.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
 intron_variant MODIFIER c.374+439G>T
c.374+439G>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 chrX 1624837
chrX:1624843
C
C
 A
A
 62 a0001c0001t0001g0007
a0001c0001t0001g0012
a0001c0001t0001g0014
others(59): Show 
a0001c0001t0001g0007
a0001c0001t0001g0012
a0001c0001t0001g0014
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0019
a0001c0001t0001g0021
a0001c0001t0001g0037
a0001c0001t0001g0046
a0001c0001t0001g0053
a0001c0001t0001g0061
a0001c0001t0001g0063
a0001c0001t0001g0079
a0001c0001t0001g0082
a0001c0001t0001g0097
a0001c0001t0001g0100
a0001c0001t0001g0102
a0001c0001t0001g0103
a0001c0001t0001g0118
a0001c0001t0001g0174
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0203
a0001c0001t0001g0205
a0001c0001t0001g0209
a0001c0001t0002g0134
a0001c0001t0002g0143
a0001c0001t0002g0180
a0001c0001t0002g0200
a0001c0001t0002g0218
a0001c0001t0003g0090
a0001c0003t0001g0013
a0001c0003t0001g0022
a0001c0003t0001g0062
a0001c0003t0001g0080
a0001c0003t0001g0219
a0001c0003t0002g0133
a0001c0003t0002g0155
a0001c0003t0002g0173
a0002c0002t0001g0002
a0002c0002t0001g0020
a0002c0002t0001g0042
a0002c0002t0001g0044
a0002c0002t0001g0069
a0002c0002t0001g0074
a0002c0002t0001g0098
a0002c0002t0001g0189
a0002c0002t0001g0208
a0002c0002t0001g0210
a0002c0002t0001g0221
a0002c0002t0002g0159
a0002c0002t0002g0162
a0002c0002t0002g0163
a0002c0002t0002g0178
a0002c0002t0002g0191
a0002c0002t0002g0198
a0002c0002t0002g0199
a0003c0005t0001g0202
a0003c0009t0001g0011
a0008c0013t0001g0101
a0011c0008t0001g0034
a0014c0018t0001g0060
 62 HG00423.hp2
HG00438.hp1
HG00597.hp1
others(59): Show 
HG00423.hp2
HG00438.hp1
HG00597.hp1
HG00741.hp1
HG00741.hp2
HG01070.hp2
HG01071.hp2
HG01081.hp2
HG01123.hp2
HG01256.hp1
HG01257.hp1
HG01257.hp2
HG01346.hp1
HG01516.hp2
HG01517.hp2
HG01891.hp1
HG01975.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp2
HG02109.hp1
HG02109.hp2
HG02148.hp1
HG02257.hp1
HG02280.hp1
HG02451.hp2
HG02523.hp2
HG02615.hp1
HG02630.hp2
HG02723.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02922.hp1
HG02922.hp2
HG02976.hp1
HG03195.hp1
HG03453.hp1
HG03486.hp2
HG03516.hp1
HG06807.hp1
NA18906.hp1
NA18939.hp1
NA18942.hp2
NA18950.hp2
NA18951.hp2
NA18955.hp1
NA18956.hp2
NA18977.hp2
NA18988.hp1
NA18998.hp2
NA19002.hp1
NA19010.hp1
NA19030.hp2
NA19064.hp2
NA19065.hp1
NA19074.hp2
NA19085.hp1
NA20300.hp1
NA21309.hp1
 intron_variant MODIFIER c.374+445C>A
c.374+445C>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 chrX 1624843
chrX:1624844
A
A
 C
C
 63 a0001c0001t0001g0007
a0001c0001t0001g0012
a0001c0001t0001g0014
others(60): Show 
a0001c0001t0001g0007
a0001c0001t0001g0012
a0001c0001t0001g0014
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0019
a0001c0001t0001g0021
a0001c0001t0001g0037
a0001c0001t0001g0046
a0001c0001t0001g0053
a0001c0001t0001g0061
a0001c0001t0001g0063
a0001c0001t0001g0079
a0001c0001t0001g0082
a0001c0001t0001g0097
a0001c0001t0001g0100
a0001c0001t0001g0102
a0001c0001t0001g0103
a0001c0001t0001g0118
a0001c0001t0001g0174
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0203
a0001c0001t0001g0205
a0001c0001t0001g0209
a0001c0001t0002g0134
a0001c0001t0002g0143
a0001c0001t0002g0180
a0001c0001t0002g0184
a0001c0001t0002g0200
a0001c0001t0002g0218
a0001c0001t0003g0090
a0001c0003t0001g0013
a0001c0003t0001g0022
a0001c0003t0001g0062
a0001c0003t0001g0080
a0001c0003t0001g0219
a0001c0003t0002g0133
a0001c0003t0002g0155
a0001c0003t0002g0173
a0002c0002t0001g0002
a0002c0002t0001g0020
a0002c0002t0001g0042
a0002c0002t0001g0044
a0002c0002t0001g0069
a0002c0002t0001g0074
a0002c0002t0001g0098
a0002c0002t0001g0189
a0002c0002t0001g0208
a0002c0002t0001g0210
a0002c0002t0001g0221
a0002c0002t0002g0159
a0002c0002t0002g0162
a0002c0002t0002g0163
a0002c0002t0002g0178
a0002c0002t0002g0191
a0002c0002t0002g0198
a0002c0002t0002g0199
a0003c0005t0001g0202
a0003c0009t0001g0011
a0008c0013t0001g0101
a0011c0008t0001g0034
a0014c0018t0001g0060
 63 HG00423.hp2
HG00438.hp1
HG00597.hp1
others(60): Show 
HG00423.hp2
HG00438.hp1
HG00597.hp1
HG00741.hp1
HG00741.hp2
HG01070.hp2
HG01071.hp2
HG01081.hp2
HG01123.hp2
HG01256.hp1
HG01257.hp1
HG01257.hp2
HG01346.hp1
HG01516.hp2
HG01517.hp2
HG01891.hp1
HG01975.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp2
HG02109.hp1
HG02109.hp2
HG02148.hp1
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02523.hp2
HG02615.hp1
HG02630.hp2
HG02723.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02922.hp1
HG02922.hp2
HG02976.hp1
HG03195.hp1
HG03453.hp1
HG03486.hp2
HG03516.hp1
HG06807.hp1
NA18906.hp1
NA18939.hp1
NA18942.hp2
NA18950.hp2
NA18951.hp2
NA18955.hp1
NA18956.hp2
NA18977.hp2
NA18988.hp1
NA18998.hp2
NA19002.hp1
NA19010.hp1
NA19030.hp2
NA19064.hp2
NA19065.hp1
NA19074.hp2
NA19085.hp1
NA20300.hp1
NA21309.hp1
 intron_variant MODIFIER c.374+446A>C
c.374+446A>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 chrX 1624844
chrX:1624868
G
G
 T
T
 1 a0001c0001t0002g0184
a0001c0001t0002g0184
 1 HG02280.hp2
HG02280.hp2
 intron_variant MODIFIER c.374+470G>T
c.374+470G>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 chrX 1624868
chrX:1624869
GGCTGCAC
others(55): Show 
GGCTGCACCCAGGCAGATGCTGGGAGGTGGGGGCTGACCCCAGGCAGATG
CTGGGAGGTGGGC
 G
G
 1 a0001c0001t0001g0204
a0001c0001t0001g0204
 1 HG02630.hp1
HG02630.hp1
 intron_variant MODIFIER c.374+533_374+594del
others(62): Show 
c.374+533_374+594delCGCTGCACCCAGGCAGATGCTGGGAGGTGG
GGGCTGACCCCAGGCAGATGCTGGGAGGTGGG
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chrX 1624869
chrX:1624874
C
C
 A
A
 2 a0001c0001t0001g0001
a0001c0001t0001g0158
a0001c0001t0001g0001
a0001c0001t0001g0158
 3 HG02559.hp1
HG03195.hp2
NA19240.hp1
HG02559.hp1
HG03195.hp2
NA19240.hp1
 intron_variant MODIFIER c.374+476C>A
c.374+476C>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 chrX 1624874
chrX:1624875
A
A
 C
C
 71 a0001c0001t0001g0001
a0001c0001t0001g0027
a0001c0001t0001g0035
others(68): Show 
a0001c0001t0001g0001
a0001c0001t0001g0027
a0001c0001t0001g0035
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0049
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0083
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0158
a0001c0001t0001g0206
a0001c0001t0002g0039
a0001c0001t0002g0120
a0001c0001t0002g0132
a0001c0001t0002g0135
a0001c0001t0002g0147
a0001c0001t0002g0153
a0001c0001t0002g0161
a0001c0001t0002g0167
a0001c0001t0002g0168
a0001c0001t0002g0170
a0001c0001t0002g0176
a0001c0001t0002g0190
a0001c0003t0001g0038
a0001c0003t0001g0050
a0001c0003t0001g0051
a0001c0003t0001g0059
a0001c0003t0001g0094
a0001c0003t0001g0107
a0001c0003t0001g0171
a0001c0003t0002g0149
a0001c0003t0002g0150
a0001c0003t0002g0182
a0002c0002t0001g0003
a0002c0002t0001g0015
a0002c0002t0001g0057
a0002c0002t0001g0066
a0002c0002t0001g0073
a0002c0002t0001g0089
a0002c0002t0001g0095
a0002c0002t0001g0099
a0002c0002t0001g0108
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0124
a0002c0002t0001g0125
a0002c0002t0001g0127
a0002c0002t0001g0129
a0002c0002t0001g0130
a0002c0002t0001g0151
a0002c0002t0001g0220
a0002c0002t0001g0222
a0002c0002t0002g0096
a0002c0002t0002g0112
a0002c0002t0002g0146
a0002c0002t0002g0154
a0002c0002t0002g0156
a0002c0002t0002g0166
a0002c0002t0002g0172
a0002c0002t0002g0186
a0002c0002t0002g0188
a0002c0002t0002g0207
a0002c0002t0002g0213
a0004c0004t0004g0148
a0009c0014t0002g0075
 72 HG00099.hp1
HG00323.hp1
HG00423.hp1
others(69): Show 
HG00099.hp1
HG00323.hp1
HG00423.hp1
HG00438.hp2
HG00639.hp1
HG00639.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG01361.hp1
HG01361.hp2
HG01496.hp2
HG01516.hp1
HG01517.hp1
HG01978.hp1
HG02004.hp2
HG02080.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02257.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02559.hp1
HG02615.hp2
HG02683.hp1
HG02683.hp2
HG02723.hp2
HG02896.hp2
HG03195.hp2
HG03239.hp1
HG03669.hp1
HG03831.hp2
HG03927.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp2
NA18939.hp2
NA18941.hp1
NA18949.hp1
NA18949.hp2
NA18951.hp1
NA18954.hp1
NA18954.hp2
NA18963.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp2
NA18973.hp1
NA18975.hp1
NA18975.hp2
NA18981.hp1
NA18981.hp2
NA18985.hp1
NA18998.hp1
NA18999.hp2
NA19003.hp1
NA19003.hp2
NA19010.hp2
NA19011.hp1
NA19057.hp1
NA19057.hp2
NA19065.hp2
NA19077.hp1
NA19077.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19240.hp1
NA21309.hp2
 intron_variant MODIFIER c.374+477A>C
c.374+477A>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 chrX 1624875
chrX:1624891
G
G
 GA
GA
 1 a0014c0018t0001g0060
a0014c0018t0001g0060
 1 NA18988.hp1
NA18988.hp1
 intron_variant MODIFIER c.374+493_374+494ins
others(1): Show 
c.374+493_374+494insA
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 chrX 1624891
chrX:1624896
T
T
 TG
TG
 1 a0001c0003t0002g0182
a0001c0003t0002g0182
 1 NA18985.hp1
NA18985.hp1
 intron_variant MODIFIER c.374+503dupG
c.374+503dupG
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chrX 1624896
chrX:1624900
G
G
 C
C
 2 a0001c0001t0001g0001
a0001c0001t0001g0158
a0001c0001t0001g0001
a0001c0001t0001g0158
 3 HG02559.hp1
HG03195.hp2
NA19240.hp1
HG02559.hp1
HG03195.hp2
NA19240.hp1
 intron_variant MODIFIER c.374+502G>C
c.374+502G>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 chrX 1624900
chrX:1624900
GGCTGACC
others(24): Show 
GGCTGACCCCAGGCAGATGCTGGGAGGTGGGC
 G
G
 10 a0001c0001t0001g0014
a0001c0001t0001g0205
a0001c0001t0001g0209
others(7): Show 
a0001c0001t0001g0014
a0001c0001t0001g0205
a0001c0001t0001g0209
a0001c0003t0001g0022
a0002c0002t0001g0002
a0002c0002t0001g0069
a0002c0002t0001g0208
a0002c0002t0001g0210
a0002c0002t0002g0159
a0003c0009t0001g0011
 10 HG01891.hp1
HG02109.hp1
HG02723.hp1
others(7): Show 
HG01891.hp1
HG02109.hp1
HG02723.hp1
HG02809.hp2
HG02976.hp1
HG03453.hp1
HG03516.hp1
HG06807.hp1
NA18906.hp1
NA19030.hp2
 intron_variant MODIFIER c.374+507_374+537del
others(31): Show 
c.374+507_374+537delACCCCAGGCAGATGCTGGGAGGTGGGCGCT
G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chrX 1624900
chrX:1624905
A
A
 C
C
 3 a0001c0001t0001g0001
a0001c0001t0001g0158
a0001c0001t0002g0184
a0001c0001t0001g0001
a0001c0001t0001g0158
a0001c0001t0002g0184
 4 HG02280.hp2
HG02559.hp1
HG03195.hp2
others(1): Show 
HG02280.hp2
HG02559.hp1
HG03195.hp2
NA19240.hp1
 intron_variant MODIFIER c.374+507A>C
c.374+507A>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 chrX 1624905
chrX:1624905
AC
AC
 A
A
 1 a0014c0018t0001g0060
a0014c0018t0001g0060
 1 NA18988.hp1
NA18988.hp1
 intron_variant MODIFIER c.374+511delC
c.374+511delC
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chrX 1624905
chrX:1624906
C
C
 A
A
 2 a0001c0001t0001g0001
a0001c0001t0001g0158
a0001c0001t0001g0001
a0001c0001t0001g0158
 3 HG02559.hp1
HG03195.hp2
NA19240.hp1
HG02559.hp1
HG03195.hp2
NA19240.hp1
 intron_variant MODIFIER c.374+508C>A
c.374+508C>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 chrX 1624906
chrX:1624912
G
G
 A
A
 2 a0001c0001t0001g0001
a0001c0001t0001g0158
a0001c0001t0001g0001
a0001c0001t0001g0158
 3 HG02559.hp1
HG03195.hp2
NA19240.hp1
HG02559.hp1
HG03195.hp2
NA19240.hp1
 intron_variant MODIFIER c.374+514G>A
c.374+514G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 chrX 1624912
chrX:1624930
G
G
 T
T
 1 a0001c0001t0002g0184
a0001c0001t0002g0184
 1 HG02280.hp2
HG02280.hp2
 intron_variant MODIFIER c.374+532G>T
c.374+532G>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 chrX 1624930
chrX:1624931
C
C
 G
G
 1 a0001c0001t0002g0184
a0001c0001t0002g0184
 1 HG02280.hp2
HG02280.hp2
 intron_variant MODIFIER c.374+533C>G
c.374+533C>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 chrX 1624931
chrX:1624936
C
C
 A
A
 1 a0001c0001t0002g0184
a0001c0001t0002g0184
 1 HG02280.hp2
HG02280.hp2
 intron_variant MODIFIER c.374+538C>A
c.374+538C>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 chrX 1624936
chrX:1624937
A
A
 C
C
 2 a0001c0001t0002g0184
a0002c0002t0001g0108
a0001c0001t0002g0184
a0002c0002t0001g0108
 2 HG02280.hp2
NA19080.hp2
HG02280.hp2
NA19080.hp2
 intron_variant MODIFIER c.374+539A>C
c.374+539A>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 chrX 1624937
chrX:1624939
C
C
 A
A
 1 a0001c0001t0002g0184
a0001c0001t0002g0184
 1 HG02280.hp2
HG02280.hp2
 intron_variant MODIFIER c.374+541C>A
c.374+541C>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 chrX 1624939
chrX:1624958
T
T
 TG
TG
 1 a0001c0003t0001g0091
a0001c0003t0001g0091
 1 HG00597.hp2
HG00597.hp2
 intron_variant MODIFIER c.374+565dupG
c.374+565dupG
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chrX 1624958
chrX:1624958
TG
TG
 T
T
 1 a0014c0018t0001g0060
a0014c0018t0001g0060
 1 NA18988.hp1
NA18988.hp1
 intron_variant MODIFIER c.374+565delG
c.374+565delG
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chrX 1624958
chrX:1624967
AC
AC
 A
A
 1 a0001c0003t0001g0093
a0001c0003t0001g0093
 1 NA18986.hp2
NA18986.hp2
 intron_variant MODIFIER c.374+573delC
c.374+573delC
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chrX 1624967
chrX:1624989
TG
TG
 T
T
 2 a0001c0003t0001g0093
a0012c0007t0001g0036
a0001c0003t0001g0093
a0012c0007t0001g0036
 2 NA18986.hp2
NA19082.hp1
NA18986.hp2
NA19082.hp1
 intron_variant MODIFIER c.374+596delG
c.374+596delG
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chrX 1624989
chrX:1625024
A
A
 AC
AC
 1 a0012c0007t0001g0036
a0012c0007t0001g0036
 1 NA19082.hp1
NA19082.hp1
 intron_variant MODIFIER c.374+627dupC
c.374+627dupC
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chrX 1625024
chrX:1625027
A
A
 AC
AC
 2 a0012c0007t0001g0036
a0014c0018t0001g0060
a0012c0007t0001g0036
a0014c0018t0001g0060
 2 NA18988.hp1
NA19082.hp1
NA18988.hp1
NA19082.hp1
 intron_variant MODIFIER c.374+631dupC
c.374+631dupC
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chrX 1625027
chrX:1625030
G
G
 C
C
 52 a0001c0001t0001g0007
a0001c0001t0001g0012
a0001c0001t0001g0016
others(49): Show 
a0001c0001t0001g0007
a0001c0001t0001g0012
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0019
a0001c0001t0001g0021
a0001c0001t0001g0037
a0001c0001t0001g0046
a0001c0001t0001g0053
a0001c0001t0001g0061
a0001c0001t0001g0063
a0001c0001t0001g0079
a0001c0001t0001g0082
a0001c0001t0001g0097
a0001c0001t0001g0100
a0001c0001t0001g0102
a0001c0001t0001g0103
a0001c0001t0001g0118
a0001c0001t0001g0174
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0203
a0001c0001t0002g0134
a0001c0001t0002g0143
a0001c0001t0002g0180
a0001c0001t0002g0200
a0001c0001t0002g0218
a0001c0001t0003g0090
a0001c0003t0001g0013
a0001c0003t0001g0062
a0001c0003t0001g0080
a0001c0003t0001g0219
a0001c0003t0002g0133
a0001c0003t0002g0155
a0001c0003t0002g0173
a0002c0002t0001g0020
a0002c0002t0001g0042
a0002c0002t0001g0044
a0002c0002t0001g0074
a0002c0002t0001g0098
a0002c0002t0001g0189
a0002c0002t0001g0221
a0002c0002t0002g0162
a0002c0002t0002g0163
a0002c0002t0002g0178
a0002c0002t0002g0191
a0002c0002t0002g0198
a0002c0002t0002g0199
a0003c0005t0001g0202
a0008c0013t0001g0101
a0011c0008t0001g0034
a0014c0018t0001g0060
 52 HG00423.hp2
HG00438.hp1
HG00597.hp1
others(49): Show 
HG00423.hp2
HG00438.hp1
HG00597.hp1
HG00741.hp1
HG00741.hp2
HG01070.hp2
HG01071.hp2
HG01081.hp2
HG01123.hp2
HG01256.hp1
HG01257.hp1
HG01257.hp2
HG01346.hp1
HG01516.hp2
HG01517.hp2
HG01975.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp2
HG02109.hp2
HG02148.hp1
HG02257.hp1
HG02280.hp1
HG02451.hp2
HG02523.hp2
HG02615.hp1
HG02630.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02922.hp1
HG02922.hp2
HG03195.hp1
HG03486.hp2
NA18939.hp1
NA18942.hp2
NA18950.hp2
NA18951.hp2
NA18955.hp1
NA18956.hp2
NA18977.hp2
NA18988.hp1
NA18998.hp2
NA19002.hp1
NA19010.hp1
NA19064.hp2
NA19065.hp1
NA19074.hp2
NA19085.hp1
NA20300.hp1
NA21309.hp1
 intron_variant MODIFIER c.374+632G>C
c.374+632G>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 chrX 1625030
chrX:1625033
AG
AG
 A
A
 1 a0012c0007t0001g0036
a0012c0007t0001g0036
 1 NA19082.hp1
NA19082.hp1
 intron_variant MODIFIER c.374+639delG
c.374+639delG
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chrX 1625033
chrX:1625037
G
G
 T
T
 52 a0001c0001t0001g0007
a0001c0001t0001g0012
a0001c0001t0001g0016
others(49): Show 
a0001c0001t0001g0007
a0001c0001t0001g0012
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0019
a0001c0001t0001g0021
a0001c0001t0001g0037
a0001c0001t0001g0046
a0001c0001t0001g0053
a0001c0001t0001g0061
a0001c0001t0001g0063
a0001c0001t0001g0079
a0001c0001t0001g0082
a0001c0001t0001g0097
a0001c0001t0001g0100
a0001c0001t0001g0102
a0001c0001t0001g0103
a0001c0001t0001g0118
a0001c0001t0001g0174
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0203
a0001c0001t0002g0134
a0001c0001t0002g0143
a0001c0001t0002g0180
a0001c0001t0002g0200
a0001c0001t0002g0218
a0001c0001t0003g0090
a0001c0003t0001g0013
a0001c0003t0001g0062
a0001c0003t0001g0080
a0001c0003t0001g0219
a0001c0003t0002g0133
a0001c0003t0002g0155
a0001c0003t0002g0173
a0002c0002t0001g0020
a0002c0002t0001g0042
a0002c0002t0001g0044
a0002c0002t0001g0074
a0002c0002t0001g0098
a0002c0002t0001g0189
a0002c0002t0001g0221
a0002c0002t0002g0162
a0002c0002t0002g0163
a0002c0002t0002g0178
a0002c0002t0002g0191
a0002c0002t0002g0198
a0002c0002t0002g0199
a0003c0005t0001g0202
a0008c0013t0001g0101
a0011c0008t0001g0034
a0014c0018t0001g0060
 52 HG00423.hp2
HG00438.hp1
HG00597.hp1
others(49): Show 
HG00423.hp2
HG00438.hp1
HG00597.hp1
HG00741.hp1
HG00741.hp2
HG01070.hp2
HG01071.hp2
HG01081.hp2
HG01123.hp2
HG01256.hp1
HG01257.hp1
HG01257.hp2
HG01346.hp1
HG01516.hp2
HG01517.hp2
HG01975.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp2
HG02109.hp2
HG02148.hp1
HG02257.hp1
HG02280.hp1
HG02451.hp2
HG02523.hp2
HG02615.hp1
HG02630.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02922.hp1
HG02922.hp2
HG03195.hp1
HG03486.hp2
NA18939.hp1
NA18942.hp2
NA18950.hp2
NA18951.hp2
NA18955.hp1
NA18956.hp2
NA18977.hp2
NA18988.hp1
NA18998.hp2
NA19002.hp1
NA19010.hp1
NA19064.hp2
NA19065.hp1
NA19074.hp2
NA19085.hp1
NA20300.hp1
NA21309.hp1
 intron_variant MODIFIER c.374+639G>T
c.374+639G>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 chrX 1625037
chrX:1625087
G
G
 GT
GT
 1 a0001c0003t0002g0182
a0001c0003t0002g0182
 1 NA18985.hp1
NA18985.hp1
 intron_variant MODIFIER c.374+695dupT
c.374+695dupT
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chrX 1625087
chrX:1625104
C
C
 CT
CT
 2 a0003c0005t0001g0202
a0011c0008t0001g0034
a0003c0005t0001g0202
a0011c0008t0001g0034
 2 HG02523.hp2
HG02922.hp1
HG02523.hp2
HG02922.hp1
 intron_variant MODIFIER c.374+709dupT
c.374+709dupT
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chrX 1625104
chrX:1625104
C
C
 CTT
CTT
 44 a0001c0001t0001g0007
a0001c0001t0001g0012
a0001c0001t0001g0016
others(41): Show 
a0001c0001t0001g0007
a0001c0001t0001g0012
a0001c0001t0001g0016
a0001c0001t0001g0037
a0001c0001t0001g0046
a0001c0001t0001g0053
a0001c0001t0001g0061
a0001c0001t0001g0063
a0001c0001t0001g0079
a0001c0001t0001g0082
a0001c0001t0001g0097
a0001c0001t0001g0100
a0001c0001t0001g0102
a0001c0001t0001g0103
a0001c0001t0001g0118
a0001c0001t0001g0174
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0203
a0001c0001t0002g0134
a0001c0001t0002g0143
a0001c0001t0002g0180
a0001c0001t0002g0200
a0001c0001t0002g0218
a0001c0001t0003g0090
a0001c0003t0001g0013
a0001c0003t0001g0062
a0001c0003t0001g0080
a0001c0003t0001g0219
a0001c0003t0002g0133
a0001c0003t0002g0173
a0002c0002t0001g0042
a0002c0002t0001g0044
a0002c0002t0001g0074
a0002c0002t0001g0098
a0002c0002t0001g0189
a0002c0002t0001g0221
a0002c0002t0002g0162
a0002c0002t0002g0163
a0002c0002t0002g0178
a0002c0002t0002g0191
a0002c0002t0002g0198
a0002c0002t0002g0199
a0008c0013t0001g0101
 44 HG00423.hp2
HG00438.hp1
HG00597.hp1
others(41): Show 
HG00423.hp2
HG00438.hp1
HG00597.hp1
HG00741.hp1
HG01070.hp2
HG01071.hp2
HG01081.hp2
HG01123.hp2
HG01256.hp1
HG01257.hp1
HG01257.hp2
HG01346.hp1
HG01516.hp2
HG01517.hp2
HG01975.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp2
HG02109.hp2
HG02148.hp1
HG02257.hp1
HG02451.hp2
HG02615.hp1
HG02630.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02922.hp2
HG03486.hp2
NA18939.hp1
NA18942.hp2
NA18950.hp2
NA18951.hp2
NA18955.hp1
NA18956.hp2
NA18998.hp2
NA19002.hp1
NA19010.hp1
NA19064.hp2
NA19065.hp1
NA19074.hp2
NA19085.hp1
NA21309.hp1
 intron_variant MODIFIER c.374+708_374+709dup
others(2): Show 
c.374+708_374+709dupTT
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chrX 1625104
chrX:1625104
C
C
 CTTT
CTTT
 6 a0001c0001t0001g0017
a0001c0001t0001g0019
a0001c0001t0001g0021
others(3): Show 
a0001c0001t0001g0017
a0001c0001t0001g0019
a0001c0001t0001g0021
a0001c0003t0002g0155
a0002c0002t0001g0020
a0014c0018t0001g0060
 6 HG00741.hp2
HG02280.hp1
HG03195.hp1
others(3): Show 
HG00741.hp2
HG02280.hp1
HG03195.hp1
NA18977.hp2
NA18988.hp1
NA20300.hp1
 intron_variant MODIFIER c.374+707_374+709dup
others(3): Show 
c.374+707_374+709dupTTT
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chrX 1625104
chrX:1625108
C
C
 CT
CT
 3 a0001c0003t0001g0059
a0001c0003t0002g0182
a0002c0002t0001g0119
a0001c0003t0001g0059
a0001c0003t0002g0182
a0002c0002t0001g0119
 3 HG01168.hp2
NA18968.hp2
NA18985.hp1
HG01168.hp2
NA18968.hp2
NA18985.hp1
 intron_variant MODIFIER c.374+724dupT
c.374+724dupT
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chrX 1625108
chrX:1625108
C
C
 T
T
 52 a0001c0001t0001g0007
a0001c0001t0001g0012
a0001c0001t0001g0016
others(49): Show 
a0001c0001t0001g0007
a0001c0001t0001g0012
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0019
a0001c0001t0001g0021
a0001c0001t0001g0037
a0001c0001t0001g0046
a0001c0001t0001g0053
a0001c0001t0001g0061
a0001c0001t0001g0063
a0001c0001t0001g0079
a0001c0001t0001g0082
a0001c0001t0001g0097
a0001c0001t0001g0100
a0001c0001t0001g0102
a0001c0001t0001g0103
a0001c0001t0001g0118
a0001c0001t0001g0174
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0203
a0001c0001t0002g0134
a0001c0001t0002g0143
a0001c0001t0002g0180
a0001c0001t0002g0200
a0001c0001t0002g0218
a0001c0001t0003g0090
a0001c0003t0001g0013
a0001c0003t0001g0062
a0001c0003t0001g0080
a0001c0003t0001g0219
a0001c0003t0002g0133
a0001c0003t0002g0155
a0001c0003t0002g0173
a0002c0002t0001g0020
a0002c0002t0001g0042
a0002c0002t0001g0044
a0002c0002t0001g0074
a0002c0002t0001g0098
a0002c0002t0001g0189
a0002c0002t0001g0221
a0002c0002t0002g0162
a0002c0002t0002g0163
a0002c0002t0002g0178
a0002c0002t0002g0191
a0002c0002t0002g0198
a0002c0002t0002g0199
a0003c0005t0001g0202
a0008c0013t0001g0101
a0011c0008t0001g0034
a0014c0018t0001g0060
 52 HG00423.hp2
HG00438.hp1
HG00597.hp1
others(49): Show 
HG00423.hp2
HG00438.hp1
HG00597.hp1
HG00741.hp1
HG00741.hp2
HG01070.hp2
HG01071.hp2
HG01081.hp2
HG01123.hp2
HG01256.hp1
HG01257.hp1
HG01257.hp2
HG01346.hp1
HG01516.hp2
HG01517.hp2
HG01975.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp2
HG02109.hp2
HG02148.hp1
HG02257.hp1
HG02280.hp1
HG02451.hp2
HG02523.hp2
HG02615.hp1
HG02630.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02922.hp1
HG02922.hp2
HG03195.hp1
HG03486.hp2
NA18939.hp1
NA18942.hp2
NA18950.hp2
NA18951.hp2
NA18955.hp1
NA18956.hp2
NA18977.hp2
NA18988.hp1
NA18998.hp2
NA19002.hp1
NA19010.hp1
NA19064.hp2
NA19065.hp1
NA19074.hp2
NA19085.hp1
NA20300.hp1
NA21309.hp1
 intron_variant MODIFIER c.374+710C>T
c.374+710C>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 chrX 1625108
chrX:1625108
CT
CT
 C
C
 107 a0001c0001t0001g0001
a0001c0001t0001g0005
a0001c0001t0001g0014
others(104): Show 
a0001c0001t0001g0001
a0001c0001t0001g0005
a0001c0001t0001g0014
a0001c0001t0001g0027
a0001c0001t0001g0035
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0049
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0068
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0081
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0086
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0158
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0209
a0001c0001t0002g0039
a0001c0001t0002g0120
a0001c0001t0002g0132
a0001c0001t0002g0135
a0001c0001t0002g0140
a0001c0001t0002g0141
a0001c0001t0002g0144
a0001c0001t0002g0145
a0001c0001t0002g0147
a0001c0001t0002g0152
a0001c0001t0002g0153
a0001c0001t0002g0161
a0001c0001t0002g0164
a0001c0001t0002g0167
a0001c0001t0002g0168
a0001c0001t0002g0170
a0001c0001t0002g0190
a0001c0001t0002g0201
a0001c0001t0005g0165
a0001c0003t0001g0022
a0001c0003t0001g0023
a0001c0003t0001g0038
a0001c0003t0001g0050
a0001c0003t0001g0051
a0001c0003t0001g0070
a0001c0003t0001g0091
a0001c0003t0001g0093
a0001c0003t0001g0094
a0001c0003t0001g0107
a0001c0003t0001g0171
a0001c0003t0002g0142
a0001c0003t0002g0149
a0001c0003t0002g0150
a0002c0002t0001g0002
a0002c0002t0001g0003
a0002c0002t0001g0015
a0002c0002t0001g0026
a0002c0002t0001g0031
a0002c0002t0001g0054
a0002c0002t0001g0057
a0002c0002t0001g0066
a0002c0002t0001g0069
a0002c0002t0001g0073
a0002c0002t0001g0085
a0002c0002t0001g0089
a0002c0002t0001g0095
a0002c0002t0001g0099
a0002c0002t0001g0108
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0124
a0002c0002t0001g0125
a0002c0002t0001g0127
a0002c0002t0001g0129
a0002c0002t0001g0130
a0002c0002t0001g0151
a0002c0002t0001g0175
a0002c0002t0001g0185
a0002c0002t0001g0208
a0002c0002t0001g0210
a0002c0002t0001g0220
a0002c0002t0001g0222
a0002c0002t0002g0096
a0002c0002t0002g0112
a0002c0002t0002g0131
a0002c0002t0002g0146
a0002c0002t0002g0154
a0002c0002t0002g0156
a0002c0002t0002g0159
a0002c0002t0002g0166
a0002c0002t0002g0172
a0002c0002t0002g0188
a0002c0002t0002g0207
a0002c0002t0002g0213
a0002c0006t0001g0187
a0003c0009t0001g0011
a0004c0004t0001g0169
a0006c0011t0001g0139
a0009c0014t0002g0075
a0012c0007t0001g0036
a0013c0017t0001g0111
 108 HG00099.hp1
HG00323.hp1
HG00423.hp1
others(105): Show 
HG00099.hp1
HG00323.hp1
HG00423.hp1
HG00438.hp2
HG00544.hp2
HG00597.hp2
HG00639.hp1
HG00639.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG01175.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01496.hp1
HG01496.hp2
HG01516.hp1
HG01517.hp1
HG01884.hp2
HG01891.hp1
HG01978.hp1
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02257.hp2
HG02273.hp1
HG02273.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02523.hp1
HG02559.hp1
HG02559.hp2
HG02602.hp2
HG02615.hp2
HG02630.hp1
HG02683.hp1
HG02683.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp2
HG02896.hp2
HG02976.hp1
HG03195.hp2
HG03239.hp1
HG03453.hp1
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03669.hp1
HG03704.hp1
HG03927.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp2
NA18941.hp1
NA18947.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18951.hp1
NA18954.hp1
NA18954.hp2
NA18963.hp2
NA18973.hp1
NA18974.hp1
NA18975.hp1
NA18975.hp2
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18986.hp2
NA18992.hp1
NA18998.hp1
NA18999.hp2
NA19003.hp1
NA19003.hp2
NA19010.hp2
NA19011.hp1
NA19030.hp2
NA19057.hp1
NA19057.hp2
NA19064.hp1
NA19065.hp2
NA19074.hp1
NA19077.hp1
NA19077.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19082.hp1
NA19240.hp1
NA19240.hp2
NA21309.hp2
 intron_variant MODIFIER c.374+724delT
c.374+724delT
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chrX 1625108
chrX:1625108
CTT
CTT
 C
C
 6 a0001c0001t0002g0176
a0002c0002t0001g0122
a0002c0002t0002g0186
others(3): Show 
a0001c0001t0002g0176
a0002c0002t0001g0122
a0002c0002t0002g0186
a0002c0010t0001g0010
a0005c0016t0001g0045
a0010c0015t0002g0179
 6 HG02622.hp2
HG03540.hp2
NA18968.hp1
others(3): Show 
HG02622.hp2
HG03540.hp2
NA18968.hp1
NA18969.hp2
NA19030.hp1
NA19072.hp2
 intron_variant MODIFIER c.374+723_374+724del
others(2): Show 
c.374+723_374+724delTT
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chrX 1625108
chrX:1625165
C
C
 T
T
 7 a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0209
others(4): Show 
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0209
a0001c0001t0003g0090
a0002c0002t0001g0002
a0002c0002t0001g0210
a0002c0002t0002g0159
 7 HG02630.hp1
HG02723.hp1
HG02809.hp2
others(4): Show 
HG02630.hp1
HG02723.hp1
HG02809.hp2
HG02818.hp2
HG02976.hp1
HG03453.hp1
HG03516.hp1
 intron_variant MODIFIER c.374+767C>T
c.374+767C>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 chrX 1625165
chrX:1625172
TC
TC
 T
T
 1 a0014c0018t0001g0060
a0014c0018t0001g0060
 1 NA18988.hp1
NA18988.hp1
 intron_variant MODIFIER c.374+775delC
c.374+775delC
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 chrX 1625172
chrX:1625173
C
C
 T
T
 42 a0001c0001t0001g0007
a0001c0001t0001g0012
a0001c0001t0001g0037
others(39): Show 
a0001c0001t0001g0007
a0001c0001t0001g0012
a0001c0001t0001g0037
a0001c0001t0001g0046
a0001c0001t0001g0053
a0001c0001t0001g0061
a0001c0001t0001g0063
a0001c0001t0001g0079
a0001c0001t0001g0082
a0001c0001t0001g0097
a0001c0001t0001g0100
a0001c0001t0001g0102
a0001c0001t0001g0103
a0001c0001t0001g0118
a0001c0001t0001g0174
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0002g0134
a0001c0001t0002g0143
a0001c0001t0002g0180
a0001c0001t0002g0200
a0001c0001t0002g0218
a0001c0003t0001g0013
a0001c0003t0001g0062
a0001c0003t0001g0080
a0001c0003t0001g0219
a0001c0003t0002g0133
a0001c0003t0002g0155
a0001c0003t0002g0173
a0002c0002t0001g0042
a0002c0002t0001g0044
a0002c0002t0001g0074
a0002c0002t0001g0098
a0002c0002t0002g0162
a0002c0002t0002g0163
a0002c0002t0002g0178
a0002c0002t0002g0191
a0002c0002t0002g0198
a0002c0002t0002g0199
a0003c0005t0001g0202
a0008c0013t0001g0101
a0011c0008t0001g0034
 42 HG00423.hp2
HG00438.hp1
HG00597.hp1
others(39): Show 
HG00423.hp2
HG00438.hp1
HG00597.hp1
HG00741.hp1
HG01071.hp2
HG01081.hp2
HG01123.hp2
HG01256.hp1
HG01257.hp1
HG01257.hp2
HG01346.hp1
HG01516.hp2
HG01517.hp2
HG01975.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp2
HG02109.hp2
HG02148.hp1
HG02257.hp1
HG02523.hp2
HG02615.hp1
HG02630.hp2
HG02818.hp1
HG02922.hp1
HG03486.hp2
NA18939.hp1
NA18942.hp2
NA18950.hp2
NA18951.hp2
NA18955.hp1
NA18956.hp2
NA18977.hp2
NA18998.hp2
NA19002.hp1
NA19010.hp1
NA19064.hp2
NA19065.hp1
NA19074.hp2
NA19085.hp1
NA21309.hp1
 intron_variant MODIFIER c.374+775C>T
c.374+775C>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 chrX 1625173
chrX:1625174
G
G
 T
T
 1 a0014c0018t0001g0060
a0014c0018t0001g0060
 1 NA18988.hp1
NA18988.hp1
 intron_variant MODIFIER c.374+776G>T
c.374+776G>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 chrX 1625174
chrX:1625190
T
T
 C
C
 6 a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0019
others(3): Show 
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0019
a0001c0001t0001g0021
a0001c0001t0003g0090
a0002c0002t0001g0020
 6 HG00741.hp2
HG02280.hp1
HG02818.hp2
others(3): Show 
HG00741.hp2
HG02280.hp1
HG02818.hp2
HG02922.hp2
HG03195.hp1
NA20300.hp1
 intron_variant MODIFIER c.374+792T>C
c.374+792T>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 chrX 1625190
chrX:1625260
A
A
 G
G
 102 a0001c0001t0001g0006
a0001c0001t0001g0008
a0001c0001t0001g0016
others(99): Show 
a0001c0001t0001g0006
a0001c0001t0001g0008
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0019
a0001c0001t0001g0021
a0001c0001t0001g0027
a0001c0001t0001g0035
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0049
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0081
a0001c0001t0001g0083
a0001c0001t0001g0123
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0203
a0001c0001t0001g0206
a0001c0001t0001g0211
a0001c0001t0001g0214
a0001c0001t0001g0215
a0001c0001t0002g0039
a0001c0001t0002g0120
a0001c0001t0002g0132
a0001c0001t0002g0135
a0001c0001t0002g0140
a0001c0001t0002g0141
a0001c0001t0002g0144
a0001c0001t0002g0145
a0001c0001t0002g0147
a0001c0001t0002g0153
a0001c0001t0002g0161
a0001c0001t0002g0167
a0001c0001t0002g0168
a0001c0001t0002g0170
a0001c0001t0002g0176
a0001c0001t0002g0190
a0001c0001t0002g0201
a0001c0001t0003g0090
a0001c0003t0001g0038
a0001c0003t0001g0050
a0001c0003t0001g0051
a0001c0003t0001g0059
a0001c0003t0001g0070
a0001c0003t0001g0091
a0001c0003t0001g0094
a0001c0003t0001g0107
a0001c0003t0001g0171
a0001c0003t0002g0142
a0001c0003t0002g0149
a0001c0003t0002g0150
a0002c0002t0001g0003
a0002c0002t0001g0009
a0002c0002t0001g0020
a0002c0002t0001g0026
a0002c0002t0001g0057
a0002c0002t0001g0066
a0002c0002t0001g0073
a0002c0002t0001g0089
a0002c0002t0001g0095
a0002c0002t0001g0099
a0002c0002t0001g0108
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0122
a0002c0002t0001g0124
a0002c0002t0001g0125
a0002c0002t0001g0127
a0002c0002t0001g0129
a0002c0002t0001g0130
a0002c0002t0001g0151
a0002c0002t0001g0185
a0002c0002t0001g0189
a0002c0002t0001g0220
a0002c0002t0001g0221
a0002c0002t0001g0222
a0002c0002t0002g0096
a0002c0002t0002g0112
a0002c0002t0002g0131
a0002c0002t0002g0146
a0002c0002t0002g0154
a0002c0002t0002g0156
a0002c0002t0002g0166
a0002c0002t0002g0172
a0002c0002t0002g0186
a0002c0002t0002g0188
a0002c0002t0002g0207
a0002c0002t0002g0213
a0002c0006t0001g0187
a0004c0004t0001g0169
a0005c0016t0001g0045
a0009c0014t0002g0075
a0010c0015t0002g0179
a0011c0008t0001g0034
 102 HG00099.hp1
HG00323.hp1
HG00423.hp1
others(99): Show 
HG00099.hp1
HG00323.hp1
HG00423.hp1
HG00438.hp2
HG00544.hp2
HG00597.hp2
HG00639.hp1
HG00639.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00741.hp2
HG01070.hp2
HG01361.hp1
HG01361.hp2
HG01496.hp1
HG01496.hp2
HG01516.hp1
HG01517.hp1
HG01884.hp1
HG01884.hp2
HG01978.hp1
HG01993.hp1
HG02004.hp2
HG02080.hp1
HG02080.hp2
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02257.hp2
HG02273.hp2
HG02280.hp1
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp2
HG02615.hp2
HG02622.hp1
HG02683.hp1
HG02683.hp2
HG02723.hp2
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02922.hp2
HG03041.hp1
HG03195.hp1
HG03239.hp1
HG03453.hp2
HG03491.hp1
HG03491.hp2
HG03540.hp1
HG03540.hp2
HG03669.hp1
HG03927.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp2
HG06807.hp2
NA18906.hp2
NA18939.hp2
NA18941.hp1
NA18949.hp1
NA18949.hp2
NA18951.hp1
NA18954.hp1
NA18954.hp2
NA18963.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp2
NA18973.hp1
NA18975.hp1
NA18975.hp2
NA18981.hp1
NA18981.hp2
NA18992.hp1
NA18998.hp1
NA18999.hp2
NA19003.hp1
NA19003.hp2
NA19010.hp2
NA19011.hp1
NA19030.hp1
NA19057.hp1
NA19057.hp2
NA19064.hp1
NA19065.hp2
NA19072.hp2
NA19074.hp1
NA19077.hp1
NA19077.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA20129.hp1
NA20300.hp1
NA21309.hp2
 intron_variant MODIFIER c.374+862A>G
c.374+862A>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 chrX 1625260
chrX:1625267
A
A
 G
G
 2 a0001c0001t0002g0144
a0001c0001t0002g0145
a0001c0001t0002g0144
a0001c0001t0002g0145
 2 HG06807.hp2
NA18906.hp2
HG06807.hp2
NA18906.hp2
 intron_variant MODIFIER c.374+869A>G
c.374+869A>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 chrX 1625267
chrX:1625298
G
G
 GT
GT
 1 a0011c0008t0001g0034
a0011c0008t0001g0034
 1 HG02523.hp2
HG02523.hp2
 intron_variant MODIFIER c.374+903dupT
c.374+903dupT
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chrX 1625298
chrX:1625306
A
A
 G
G
 42 a0001c0001t0001g0007
a0001c0001t0001g0012
a0001c0001t0001g0037
others(39): Show 
a0001c0001t0001g0007
a0001c0001t0001g0012
a0001c0001t0001g0037
a0001c0001t0001g0046
a0001c0001t0001g0053
a0001c0001t0001g0061
a0001c0001t0001g0063
a0001c0001t0001g0079
a0001c0001t0001g0082
a0001c0001t0001g0097
a0001c0001t0001g0100
a0001c0001t0001g0102
a0001c0001t0001g0103
a0001c0001t0001g0118
a0001c0001t0001g0174
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0002g0134
a0001c0001t0002g0143
a0001c0001t0002g0180
a0001c0001t0002g0200
a0001c0001t0002g0218
a0001c0003t0001g0013
a0001c0003t0001g0062
a0001c0003t0001g0080
a0001c0003t0001g0219
a0001c0003t0002g0133
a0001c0003t0002g0155
a0001c0003t0002g0173
a0002c0002t0001g0042
a0002c0002t0001g0044
a0002c0002t0001g0074
a0002c0002t0001g0098
a0002c0002t0002g0162
a0002c0002t0002g0163
a0002c0002t0002g0178
a0002c0002t0002g0191
a0002c0002t0002g0198
a0002c0002t0002g0199
a0003c0005t0001g0202
a0008c0013t0001g0101
a0014c0018t0001g0060
 42 HG00423.hp2
HG00438.hp1
HG00597.hp1
others(39): Show 
HG00423.hp2
HG00438.hp1
HG00597.hp1
HG00741.hp1
HG01071.hp2
HG01081.hp2
HG01123.hp2
HG01256.hp1
HG01257.hp1
HG01257.hp2
HG01346.hp1
HG01516.hp2
HG01517.hp2
HG01975.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp2
HG02109.hp2
HG02148.hp1
HG02257.hp1
HG02615.hp1
HG02630.hp2
HG02818.hp1
HG02922.hp1
HG03486.hp2
NA18939.hp1
NA18942.hp2
NA18950.hp2
NA18951.hp2
NA18955.hp1
NA18956.hp2
NA18977.hp2
NA18988.hp1
NA18998.hp2
NA19002.hp1
NA19010.hp1
NA19064.hp2
NA19065.hp1
NA19074.hp2
NA19085.hp1
NA21309.hp1
 intron_variant MODIFIER c.374+908A>G
c.374+908A>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 chrX 1625306
chrX:1625312
G
G
 T
T
 42 a0001c0001t0001g0007
a0001c0001t0001g0012
a0001c0001t0001g0037
others(39): Show 
a0001c0001t0001g0007
a0001c0001t0001g0012
a0001c0001t0001g0037
a0001c0001t0001g0046
a0001c0001t0001g0053
a0001c0001t0001g0061
a0001c0001t0001g0063
a0001c0001t0001g0079
a0001c0001t0001g0082
a0001c0001t0001g0097
a0001c0001t0001g0100
a0001c0001t0001g0102
a0001c0001t0001g0103
a0001c0001t0001g0118
a0001c0001t0001g0174
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0002g0134
a0001c0001t0002g0143
a0001c0001t0002g0180
a0001c0001t0002g0200
a0001c0001t0002g0218
a0001c0003t0001g0013
a0001c0003t0001g0062
a0001c0003t0001g0080
a0001c0003t0001g0219
a0001c0003t0002g0133
a0001c0003t0002g0155
a0001c0003t0002g0173
a0002c0002t0001g0042
a0002c0002t0001g0044
a0002c0002t0001g0074
a0002c0002t0001g0098
a0002c0002t0002g0162
a0002c0002t0002g0163
a0002c0002t0002g0178
a0002c0002t0002g0191
a0002c0002t0002g0198
a0002c0002t0002g0199
a0003c0005t0001g0202
a0008c0013t0001g0101
a0014c0018t0001g0060
 42 HG00423.hp2
HG00438.hp1
HG00597.hp1
others(39): Show 
HG00423.hp2
HG00438.hp1
HG00597.hp1
HG00741.hp1
HG01071.hp2
HG01081.hp2
HG01123.hp2
HG01256.hp1
HG01257.hp1
HG01257.hp2
HG01346.hp1
HG01516.hp2
HG01517.hp2
HG01975.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp2
HG02109.hp2
HG02148.hp1
HG02257.hp1
HG02615.hp1
HG02630.hp2
HG02818.hp1
HG02922.hp1
HG03486.hp2
NA18939.hp1
NA18942.hp2
NA18950.hp2
NA18951.hp2
NA18955.hp1
NA18956.hp2
NA18977.hp2
NA18988.hp1
NA18998.hp2
NA19002.hp1
NA19010.hp1
NA19064.hp2
NA19065.hp1
NA19074.hp2
NA19085.hp1
NA21309.hp1
 intron_variant MODIFIER c.374+914G>T
c.374+914G>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 chrX 1625312
chrX:1625349
CT
CT
 C
C
 1 a0012c0007t0001g0036
a0012c0007t0001g0036
 1 NA19082.hp1
NA19082.hp1
 intron_variant MODIFIER c.374+952delT
c.374+952delT
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 chrX 1625349
chrX:1625358
TG
TG
 T
T
 1 a0012c0007t0001g0036
a0012c0007t0001g0036
 1 NA19082.hp1
NA19082.hp1
 intron_variant MODIFIER c.374+962delG
c.374+962delG
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chrX 1625358
chrX:1625406
GA
GA
 G
G
 1 a0012c0007t0001g0036
a0012c0007t0001g0036
 1 NA19082.hp1
NA19082.hp1
 intron_variant MODIFIER c.374+1010delA
c.374+1010delA
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chrX 1625406
chrX:1625485
A
A
 AC
AC
 1 a0014c0018t0001g0060
a0014c0018t0001g0060
 1 NA18988.hp1
NA18988.hp1
 intron_variant MODIFIER c.374+1088dupC
c.374+1088dupC
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chrX 1625485
chrX:1625492
C
C
 T
T
 7 a0001c0001t0001g0008
a0001c0001t0001g0071
a0001c0001t0001g0072
others(4): Show 
a0001c0001t0001g0008
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0123
a0001c0001t0001g0211
a0001c0001t0001g0215
a0002c0002t0001g0009
 7 HG01884.hp1
HG02809.hp1
HG02886.hp1
others(4): Show 
HG01884.hp1
HG02809.hp1
HG02886.hp1
HG02896.hp1
HG03041.hp1
HG03453.hp2
NA20129.hp1
 intron_variant MODIFIER c.374+1094C>T
c.374+1094C>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 chrX 1625492
chrX:1625493
T
T
 G
G
 1 a0001c0001t0001g0006
a0001c0001t0001g0006
 1 HG03540.hp1
HG03540.hp1
 intron_variant MODIFIER c.374+1095T>G
c.374+1095T>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 chrX 1625493
chrX:1625504
GA
GA
 G
G
 1 a0012c0007t0001g0036
a0012c0007t0001g0036
 1 NA19082.hp1
NA19082.hp1
 intron_variant MODIFIER c.374+1109delA
c.374+1109delA
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chrX 1625504
chrX:1625528
A
A
 AGAAG
AGAAG
 34 a0001c0001t0001g0007
a0001c0001t0001g0012
a0001c0001t0001g0037
others(31): Show 
a0001c0001t0001g0007
a0001c0001t0001g0012
a0001c0001t0001g0037
a0001c0001t0001g0046
a0001c0001t0001g0053
a0001c0001t0001g0061
a0001c0001t0001g0063
a0001c0001t0001g0082
a0001c0001t0001g0100
a0001c0001t0001g0102
a0001c0001t0001g0103
a0001c0001t0001g0118
a0001c0001t0001g0174
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0002g0134
a0001c0001t0002g0143
a0001c0001t0002g0180
a0001c0001t0002g0218
a0001c0003t0001g0013
a0001c0003t0001g0219
a0001c0003t0002g0133
a0001c0003t0002g0173
a0002c0002t0001g0042
a0002c0002t0001g0044
a0002c0002t0001g0074
a0002c0002t0001g0098
a0002c0002t0002g0162
a0002c0002t0002g0163
a0002c0002t0002g0191
a0002c0002t0002g0198
a0002c0002t0002g0199
a0003c0005t0001g0202
a0008c0013t0001g0101
 34 HG00423.hp2
HG00438.hp1
HG00597.hp1
others(31): Show 
HG00423.hp2
HG00438.hp1
HG00597.hp1
HG00741.hp1
HG01071.hp2
HG01081.hp2
HG01123.hp2
HG01256.hp1
HG01257.hp1
HG01257.hp2
HG01346.hp1
HG01516.hp2
HG01517.hp2
HG01981.hp1
HG01981.hp2
HG02109.hp2
HG02148.hp1
HG02257.hp1
HG02615.hp1
HG02630.hp2
HG02818.hp1
HG02922.hp1
HG03486.hp2
NA18939.hp1
NA18942.hp2
NA18950.hp2
NA18951.hp2
NA18956.hp2
NA18998.hp2
NA19002.hp1
NA19010.hp1
NA19074.hp2
NA19085.hp1
NA21309.hp1
 intron_variant MODIFIER c.374+1144_374+1147d
others(6): Show 
c.374+1144_374+1147dupAAGG
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chrX 1625528
chrX:1625538
A
A
 AG
AG
 1 a0012c0007t0001g0036
a0012c0007t0001g0036
 1 NA19082.hp1
NA19082.hp1
 intron_variant MODIFIER c.374+1140_374+1141i
others(3): Show 
c.374+1140_374+1141insG
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 chrX 1625538
chrX:1625542
A
A
 AAGGG
AAGGG
 20 a0001c0001t0001g0005
a0001c0001t0001g0068
a0001c0001t0001g0079
others(17): Show 
a0001c0001t0001g0005
a0001c0001t0001g0068
a0001c0001t0001g0079
a0001c0001t0001g0084
a0001c0001t0001g0086
a0001c0001t0001g0110
a0001c0001t0002g0152
a0001c0001t0002g0164
a0001c0001t0002g0200
a0001c0001t0005g0165
a0001c0003t0001g0023
a0001c0003t0001g0062
a0001c0003t0001g0080
a0002c0002t0001g0031
a0002c0002t0001g0054
a0002c0002t0001g0085
a0002c0002t0002g0178
a0002c0002t0002g0181
a0013c0017t0001g0111
a0014c0018t0001g0060
 20 HG00099.hp2
HG01175.hp1
HG01346.hp2
others(17): Show 
HG00099.hp2
HG01175.hp1
HG01346.hp2
HG01975.hp1
HG01978.hp2
HG01993.hp2
HG02004.hp1
HG02165.hp2
HG02273.hp1
HG02523.hp1
HG02602.hp2
HG03704.hp1
NA18947.hp2
NA18950.hp1
NA18955.hp1
NA18974.hp1
NA18980.hp2
NA18988.hp1
NA19065.hp1
NA19081.hp2
 intron_variant MODIFIER c.374+1170_374+1173d
others(6): Show 
c.374+1170_374+1173dupGGGA
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chrX 1625542
chrX:1625542
A
A
 AAGGGAGG
others(13): Show 
AAGGGAGGGAGGGAGGGAGGG
 2 a0001c0001t0001g0097
a0001c0003t0002g0155
a0001c0001t0001g0097
a0001c0003t0002g0155
 2 NA18977.hp2
NA19064.hp2
NA18977.hp2
NA19064.hp2
 intron_variant MODIFIER c.374+1154_374+1173d
others(22): Show 
c.374+1154_374+1173dupGGGAGGGAGGGAGGGAGGGA
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chrX 1625542
chrX:1625542
AAGGG
AAGGG
 A
A
 2 a0001c0003t0001g0070
a0002c0002t0001g0175
a0001c0003t0001g0070
a0002c0002t0001g0175
 2 HG01884.hp2
NA19240.hp2
HG01884.hp2
NA19240.hp2
 intron_variant MODIFIER c.374+1170_374+1173d
others(6): Show 
c.374+1170_374+1173delGGGA
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chrX 1625542
chrX:1625545
G
G
 GAAGGAAG
others(19): Show 
GAAGGAAGGGAGGGAGGGAGGGAGGGA
 11 a0001c0001t0001g0014
a0001c0001t0001g0204
a0001c0001t0001g0205
others(8): Show 
a0001c0001t0001g0014
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0209
a0001c0003t0001g0022
a0002c0002t0001g0002
a0002c0002t0001g0069
a0002c0002t0001g0208
a0002c0002t0001g0210
a0002c0002t0002g0159
a0003c0009t0001g0011
 11 HG01891.hp1
HG02109.hp1
HG02630.hp1
others(8): Show 
HG01891.hp1
HG02109.hp1
HG02630.hp1
HG02723.hp1
HG02809.hp2
HG02976.hp1
HG03453.hp1
HG03516.hp1
HG06807.hp1
NA18906.hp1
NA19030.hp2
 intron_variant MODIFIER c.374+1147_374+1148i
others(28): Show 
c.374+1147_374+1148insAAGGAAGGGAGGGAGGGAGGGAGGGA
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 chrX 1625545
chrX:1625545
G
G
 GAAGGAAG
others(23): Show 
GAAGGAAGGGAGGGAGGGAGGGAGGGAGGGA
 1 a0002c0002t0001g0221
a0002c0002t0001g0221
 1 HG01070.hp2
HG01070.hp2
 intron_variant MODIFIER c.374+1147_374+1148i
others(32): Show 
c.374+1147_374+1148insAAGGAAGGGAGGGAGGGAGGGAGGGAGG
GA
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 chrX 1625545
chrX:1625546
G
G
 A
A
 98 a0001c0001t0001g0006
a0001c0001t0001g0014
a0001c0001t0001g0016
others(95): Show 
a0001c0001t0001g0006
a0001c0001t0001g0014
a0001c0001t0001g0016
a0001c0001t0001g0027
a0001c0001t0001g0035
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0049
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0081
a0001c0001t0001g0083
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0209
a0001c0001t0001g0214
a0001c0001t0002g0039
a0001c0001t0002g0120
a0001c0001t0002g0132
a0001c0001t0002g0135
a0001c0001t0002g0140
a0001c0001t0002g0144
a0001c0001t0002g0145
a0001c0001t0002g0147
a0001c0001t0002g0153
a0001c0001t0002g0161
a0001c0001t0002g0167
a0001c0001t0002g0168
a0001c0001t0002g0170
a0001c0001t0002g0176
a0001c0001t0002g0190
a0001c0001t0002g0201
a0001c0001t0003g0090
a0001c0003t0001g0022
a0001c0003t0001g0038
a0001c0003t0001g0050
a0001c0003t0001g0051
a0001c0003t0001g0059
a0001c0003t0001g0091
a0001c0003t0001g0094
a0001c0003t0001g0107
a0001c0003t0001g0171
a0001c0003t0002g0142
a0001c0003t0002g0149
a0001c0003t0002g0150
a0002c0002t0001g0002
a0002c0002t0001g0003
a0002c0002t0001g0015
a0002c0002t0001g0026
a0002c0002t0001g0066
a0002c0002t0001g0069
a0002c0002t0001g0073
a0002c0002t0001g0089
a0002c0002t0001g0095
a0002c0002t0001g0099
a0002c0002t0001g0108
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0124
a0002c0002t0001g0125
a0002c0002t0001g0127
a0002c0002t0001g0129
a0002c0002t0001g0130
a0002c0002t0001g0151
a0002c0002t0001g0185
a0002c0002t0001g0189
a0002c0002t0001g0208
a0002c0002t0001g0210
a0002c0002t0001g0220
a0002c0002t0001g0221
a0002c0002t0001g0222
a0002c0002t0002g0096
a0002c0002t0002g0112
a0002c0002t0002g0131
a0002c0002t0002g0146
a0002c0002t0002g0154
a0002c0002t0002g0156
a0002c0002t0002g0159
a0002c0002t0002g0166
a0002c0002t0002g0172
a0002c0002t0002g0188
a0002c0002t0002g0207
a0002c0002t0002g0213
a0002c0006t0001g0187
a0002c0010t0001g0010
a0003c0009t0001g0011
a0004c0004t0001g0169
a0009c0014t0002g0075
a0010c0015t0002g0179
a0011c0008t0001g0034
 98 HG00099.hp1
HG00323.hp1
HG00423.hp1
others(95): Show 
HG00099.hp1
HG00323.hp1
HG00423.hp1
HG00438.hp2
HG00544.hp2
HG00597.hp2
HG00639.hp1
HG00639.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG01070.hp2
HG01361.hp1
HG01496.hp1
HG01496.hp2
HG01516.hp1
HG01517.hp1
HG01891.hp1
HG01978.hp1
HG01993.hp1
HG02004.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02257.hp2
HG02273.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp2
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02683.hp1
HG02683.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02896.hp2
HG02922.hp2
HG02976.hp1
HG03239.hp1
HG03453.hp1
HG03491.hp1
HG03516.hp1
HG03540.hp1
HG03669.hp1
HG03927.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp2
NA18941.hp1
NA18949.hp1
NA18949.hp2
NA18951.hp1
NA18954.hp1
NA18954.hp2
NA18963.hp2
NA18968.hp2
NA18969.hp2
NA18973.hp1
NA18975.hp1
NA18975.hp2
NA18981.hp1
NA18981.hp2
NA18992.hp1
NA18998.hp1
NA18999.hp2
NA19003.hp1
NA19003.hp2
NA19010.hp2
NA19011.hp1
NA19030.hp2
NA19057.hp1
NA19057.hp2
NA19064.hp1
NA19065.hp2
NA19072.hp2
NA19074.hp1
NA19077.hp1
NA19077.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA21309.hp2
 intron_variant MODIFIER c.374+1148G>A
c.374+1148G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 chrX 1625546
chrX:1625546
G
G
 GAGGGAGG
others(15): Show 
GAGGGAGGGAGGGAGGGAGGGAA
 1 a0005c0016t0001g0045
a0005c0016t0001g0045
 1 NA19030.hp1
NA19030.hp1
 intron_variant MODIFIER c.374+1169_374+1170i
others(24): Show 
c.374+1169_374+1170insAAGGGAGGGAGGGAGGGAGGGA
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chrX 1625546
chrX:1625546
G
G
 GAGGGAGG
others(19): Show 
GAGGGAGGGAGGGAGGGAGGGAGGGAA
 1 a0002c0002t0001g0122
a0002c0002t0001g0122
 1 HG03540.hp2
HG03540.hp2
 intron_variant MODIFIER c.374+1151_374+1176d
others(28): Show 
c.374+1151_374+1176dupGGAGGGAGGGAGGGAGGGAGGGAAAG
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chrX 1625546
chrX:1625547
A
A
 AGGAAGGG
others(20): Show 
AGGAAGGGAGGGAGGGAGGGAGGGAAAG
 1 a0001c0001t0002g0135
a0001c0001t0002g0135
 1 HG02615.hp2
HG02615.hp2
 intron_variant MODIFIER c.374+1151_374+1152i
others(29): Show 
c.374+1151_374+1152insAAGGGAGGGAGGGAGGGAGGGAAAGGG
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chrX 1625547
chrX:1625550
G
G
 A
A
 2 a0001c0003t0001g0070
a0002c0002t0001g0175
a0001c0003t0001g0070
a0002c0002t0001g0175
 2 HG01884.hp2
NA19240.hp2
HG01884.hp2
NA19240.hp2
 intron_variant MODIFIER c.374+1152G>A
c.374+1152G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 chrX 1625550
chrX:1625551
A
A
 AGGGAGGG
others(18): Show 
AGGGAGGGAGGAGGGAGGGAAAGGGG
 1 a0011c0008t0001g0034
a0011c0008t0001g0034
 1 HG02523.hp2
HG02523.hp2
 intron_variant MODIFIER c.374+1163_374+1164i
others(27): Show 
c.374+1163_374+1164insAGGGAGGGAAAGGGGGGGAGGGAGG
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chrX 1625551
chrX:1625551
A
A
 AGGGAGGG
others(15): Show 
AGGGAGGGAGGGAGGGAAAGGGG
 1 a0001c0001t0001g0214
a0001c0001t0001g0214
 1 HG02622.hp1
HG02622.hp1
 intron_variant MODIFIER c.374+1169_374+1170i
others(24): Show 
c.374+1169_374+1170insAAGGGGGGGAGGGAGGGAGGGA
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chrX 1625551
chrX:1625551
A
A
 AGGGAGGG
others(19): Show 
AGGGAGGGAGGGAGGGAGGGAAAGGGG
 66 a0001c0001t0001g0016
a0001c0001t0001g0040
a0001c0001t0001g0041
others(63): Show 
a0001c0001t0001g0016
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0049
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0077
a0001c0001t0001g0081
a0001c0001t0001g0083
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0203
a0001c0001t0001g0206
a0001c0001t0002g0039
a0001c0001t0002g0120
a0001c0001t0002g0132
a0001c0001t0002g0140
a0001c0001t0002g0147
a0001c0001t0002g0153
a0001c0001t0002g0161
a0001c0001t0002g0167
a0001c0001t0002g0168
a0001c0001t0002g0176
a0001c0001t0002g0190
a0001c0001t0002g0201
a0001c0003t0001g0038
a0001c0003t0001g0050
a0001c0003t0001g0051
a0001c0003t0001g0091
a0001c0003t0001g0094
a0001c0003t0001g0107
a0001c0003t0001g0171
a0001c0003t0002g0142
a0001c0003t0002g0150
a0002c0002t0001g0003
a0002c0002t0001g0026
a0002c0002t0001g0066
a0002c0002t0001g0073
a0002c0002t0001g0089
a0002c0002t0001g0099
a0002c0002t0001g0108
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0119
a0002c0002t0001g0124
a0002c0002t0001g0125
a0002c0002t0001g0129
a0002c0002t0001g0130
a0002c0002t0001g0151
a0002c0002t0001g0189
a0002c0002t0001g0220
a0002c0002t0001g0222
a0002c0002t0002g0112
a0002c0002t0002g0131
a0002c0002t0002g0146
a0002c0002t0002g0154
a0002c0002t0002g0156
a0002c0002t0002g0166
a0002c0002t0002g0172
a0002c0002t0002g0207
a0002c0002t0002g0213
a0002c0006t0001g0187
a0009c0014t0002g0075
a0010c0015t0002g0179
 66 HG00099.hp1
HG00323.hp1
HG00423.hp1
others(63): Show 
HG00099.hp1
HG00323.hp1
HG00423.hp1
HG00544.hp2
HG00597.hp2
HG00639.hp1
HG00639.hp2
HG00733.hp1
HG00733.hp2
HG01168.hp2
HG01361.hp1
HG01496.hp1
HG01496.hp2
HG01516.hp1
HG01517.hp1
HG01993.hp1
HG02004.hp2
HG02080.hp1
HG02148.hp2
HG02155.hp1
HG02165.hp1
HG02257.hp2
HG02273.hp2
HG02451.hp1
HG02451.hp2
HG02683.hp1
HG02683.hp2
HG02723.hp2
HG02886.hp2
HG02922.hp2
HG03239.hp1
HG03491.hp1
HG03927.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp2
NA18939.hp2
NA18941.hp1
NA18949.hp1
NA18949.hp2
NA18951.hp1
NA18954.hp1
NA18954.hp2
NA18963.hp2
NA18969.hp2
NA18973.hp1
NA18975.hp2
NA18981.hp1
NA18981.hp2
NA18992.hp1
NA18999.hp2
NA19003.hp1
NA19003.hp2
NA19010.hp2
NA19011.hp1
NA19057.hp1
NA19057.hp2
NA19064.hp1
NA19065.hp2
NA19072.hp2
NA19077.hp1
NA19077.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA21309.hp2
 intron_variant MODIFIER c.374+1176_374+1177i
others(28): Show 
c.374+1176_374+1177insGGGGGGAGGGAGGGAGGGAGGGAAAG
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chrX 1625551
chrX:1625551
A
A
 AGGGAGGG
others(20): Show 
AGGGAGGGAGGGAGGGAGGGAAAGGGGG
 11 a0001c0001t0001g0027
a0001c0001t0001g0035
a0001c0001t0001g0076
others(8): Show 
a0001c0001t0001g0027
a0001c0001t0001g0035
a0001c0001t0001g0076
a0001c0001t0002g0170
a0001c0003t0001g0059
a0002c0002t0001g0095
a0002c0002t0001g0127
a0002c0002t0001g0185
a0002c0002t0002g0096
a0002c0002t0002g0188
a0004c0004t0001g0169
 11 HG00735.hp1
HG01978.hp1
HG02080.hp2
others(8): Show 
HG00735.hp1
HG01978.hp1
HG02080.hp2
HG02155.hp2
HG02293.hp1
HG02293.hp2
HG03669.hp1
NA18968.hp2
NA18975.hp1
NA18998.hp1
NA19074.hp1
 intron_variant MODIFIER c.374+1176_374+1177i
others(29): Show 
c.374+1176_374+1177insGGGGGGGAGGGAGGGAGGGAGGGAAAG
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chrX 1625551
chrX:1625551
A
A
 G
G
 13 a0001c0001t0001g0014
a0001c0001t0001g0204
a0001c0001t0001g0205
others(10): Show 
a0001c0001t0001g0014
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0209
a0001c0001t0002g0135
a0001c0003t0001g0022
a0002c0002t0001g0002
a0002c0002t0001g0069
a0002c0002t0001g0208
a0002c0002t0001g0210
a0002c0002t0001g0221
a0002c0002t0002g0159
a0003c0009t0001g0011
 13 HG01070.hp2
HG01891.hp1
HG02109.hp1
others(10): Show 
HG01070.hp2
HG01891.hp1
HG02109.hp1
HG02615.hp2
HG02630.hp1
HG02723.hp1
HG02809.hp2
HG02976.hp1
HG03453.hp1
HG03516.hp1
HG06807.hp1
NA18906.hp1
NA19030.hp2
 intron_variant MODIFIER c.374+1153A>G
c.374+1153A>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 chrX 1625551
chrX:1625551
AG
AG
 A
A
 1 a0012c0007t0001g0036
a0012c0007t0001g0036
 1 NA19082.hp1
NA19082.hp1
 intron_variant MODIFIER c.374+1156delG
c.374+1156delG
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chrX 1625551
chrX:1625555
A
A
 AGG
AGG
 1 a0001c0003t0002g0182
a0001c0003t0002g0182
 1 NA18985.hp1
NA18985.hp1
 intron_variant MODIFIER c.374+1159_374+1160d
others(4): Show 
c.374+1159_374+1160dupGG
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chrX 1625555
chrX:1625576
AG
AG
 A
A
 1 a0012c0007t0001g0036
a0012c0007t0001g0036
 1 NA19082.hp1
NA19082.hp1
 intron_variant MODIFIER c.374+1181delG
c.374+1181delG
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chrX 1625576
chrX:1625614
A
A
 AG
AG
 1 a0012c0007t0001g0036
a0012c0007t0001g0036
 1 NA19082.hp1
NA19082.hp1
 intron_variant MODIFIER c.374+1218dupG
c.374+1218dupG
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chrX 1625614
chrX:1625616
GA
GA
 G
G
 1 a0002c0002t0001g0108
a0002c0002t0001g0108
 1 NA19080.hp2
NA19080.hp2
 intron_variant MODIFIER c.374+1221delA
c.374+1221delA
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chrX 1625616
chrX:1625676
C
C
 T
T
 19 a0001c0001t0001g0008
a0001c0001t0001g0014
a0001c0001t0001g0071
others(16): Show 
a0001c0001t0001g0008
a0001c0001t0001g0014
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0123
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0209
a0001c0001t0001g0211
a0001c0001t0001g0215
a0001c0003t0001g0022
a0002c0002t0001g0002
a0002c0002t0001g0009
a0002c0002t0001g0069
a0002c0002t0001g0208
a0002c0002t0001g0210
a0002c0002t0001g0221
a0002c0002t0002g0159
a0003c0009t0001g0011
 19 HG01070.hp2
HG01884.hp1
HG01891.hp1
others(16): Show 
HG01070.hp2
HG01884.hp1
HG01891.hp1
HG02109.hp1
HG02630.hp1
HG02723.hp1
HG02809.hp1
HG02809.hp2
HG02886.hp1
HG02896.hp1
HG02976.hp1
HG03041.hp1
HG03453.hp1
HG03453.hp2
HG03516.hp1
HG06807.hp1
NA18906.hp1
NA19030.hp2
NA20129.hp1
 intron_variant MODIFIER c.374+1278C>T
c.374+1278C>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 chrX 1625676
chrX:1625678
G
G
 GA
GA
 1 a0001c0003t0002g0182
a0001c0003t0002g0182
 1 NA18985.hp1
NA18985.hp1
 intron_variant MODIFIER c.374+1281dupA
c.374+1281dupA
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chrX 1625678
chrX:1625720
T
T
 C
C
 5 a0001c0001t0001g0017
a0001c0001t0001g0019
a0001c0001t0001g0021
others(2): Show 
a0001c0001t0001g0017
a0001c0001t0001g0019
a0001c0001t0001g0021
a0001c0001t0001g0214
a0002c0002t0001g0020
 5 HG00741.hp2
HG02280.hp1
HG02622.hp1
others(2): Show 
HG00741.hp2
HG02280.hp1
HG02622.hp1
HG03195.hp1
NA20300.hp1
 intron_variant MODIFIER c.374+1322T>C
c.374+1322T>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 chrX 1625720
chrX:1625721
G
G
 A
A
 1 a0006c0011t0001g0139
a0006c0011t0001g0139
 1 HG02559.hp2
HG02559.hp2
 intron_variant MODIFIER c.374+1323G>A
c.374+1323G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 chrX 1625721
chrX:1625722
A
A
 AG
AG
 2 a0001c0003t0002g0182
a0012c0007t0001g0036
a0001c0003t0002g0182
a0012c0007t0001g0036
 2 NA18985.hp1
NA19082.hp1
NA18985.hp1
NA19082.hp1
 intron_variant MODIFIER c.374+1326dupG
c.374+1326dupG
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chrX 1625722
chrX:1625725
C
C
 T
T
 2 a0001c0001t0001g0214
a0006c0011t0001g0139
a0001c0001t0001g0214
a0006c0011t0001g0139
 2 HG02559.hp2
HG02622.hp1
HG02559.hp2
HG02622.hp1
 intron_variant MODIFIER c.374+1327C>T
c.374+1327C>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 chrX 1625725
chrX:1625728
G
G
 A
A
 2 a0001c0001t0001g0214
a0006c0011t0001g0139
a0001c0001t0001g0214
a0006c0011t0001g0139
 2 HG02559.hp2
HG02622.hp1
HG02559.hp2
HG02622.hp1
 intron_variant MODIFIER c.374+1330G>A
c.374+1330G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 chrX 1625728
chrX:1625729
C
C
 A
A
 1 a0001c0001t0001g0007
a0001c0001t0001g0007
 1 HG02630.hp2
HG02630.hp2
 intron_variant MODIFIER c.374+1331C>A
c.374+1331C>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 chrX 1625729
chrX:1625729
C
C
 T
T
 2 a0001c0001t0001g0214
a0006c0011t0001g0139
a0001c0001t0001g0214
a0006c0011t0001g0139
 2 HG02559.hp2
HG02622.hp1
HG02559.hp2
HG02622.hp1
 intron_variant MODIFIER c.374+1331C>T
c.374+1331C>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 chrX 1625729
chrX:1625765
T
T
 C
C
 3 a0001c0001t0001g0001
a0001c0001t0001g0158
a0006c0011t0001g0139
a0001c0001t0001g0001
a0001c0001t0001g0158
a0006c0011t0001g0139
 4 HG02559.hp1
HG02559.hp2
HG03195.hp2
others(1): Show 
HG02559.hp1
HG02559.hp2
HG03195.hp2
NA19240.hp1
 intron_variant MODIFIER c.374+1367T>C
c.374+1367T>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 chrX 1625765
chrX:1625770
C
C
 A
A
 1 a0001c0003t0001g0070
a0001c0003t0001g0070
 1 HG01884.hp2
HG01884.hp2
 intron_variant MODIFIER c.374+1372C>A
c.374+1372C>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 chrX 1625770
chrX:1625810
C
C
 T
T
 14 a0001c0001t0001g0014
a0001c0001t0001g0204
a0001c0001t0001g0205
others(11): Show 
a0001c0001t0001g0014
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0209
a0001c0003t0001g0022
a0002c0002t0001g0002
a0002c0002t0001g0069
a0002c0002t0001g0122
a0002c0002t0001g0208
a0002c0002t0001g0210
a0002c0002t0001g0221
a0002c0002t0002g0159
a0003c0009t0001g0011
a0005c0016t0001g0045
 14 HG01070.hp2
HG01891.hp1
HG02109.hp1
others(11): Show 
HG01070.hp2
HG01891.hp1
HG02109.hp1
HG02630.hp1
HG02723.hp1
HG02809.hp2
HG02976.hp1
HG03453.hp1
HG03516.hp1
HG03540.hp2
HG06807.hp1
NA18906.hp1
NA19030.hp1
NA19030.hp2
 intron_variant MODIFIER c.374+1412C>T
c.374+1412C>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 chrX 1625810
chrX:1625831
G
G
 A
A
 1 a0001c0001t0001g0016
a0001c0001t0001g0016
 1 HG02922.hp2
HG02922.hp2
 intron_variant MODIFIER c.374+1433G>A
c.374+1433G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 chrX 1625831
chrX:1625861
AG
AG
 A
A
 1 a0012c0007t0001g0036
a0012c0007t0001g0036
 1 NA19082.hp1
NA19082.hp1
 intron_variant MODIFIER c.374+1465delG
c.374+1465delG
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chrX 1625861
chrX:1625862
G
G
 A
A
 2 a0002c0002t0001g0122
a0005c0016t0001g0045
a0002c0002t0001g0122
a0005c0016t0001g0045
 2 HG03540.hp2
NA19030.hp1
HG03540.hp2
NA19030.hp1
 intron_variant MODIFIER c.374+1464G>A
c.374+1464G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 chrX 1625862
chrX:1625871
T
T
 C
C
 13 a0001c0001t0001g0014
a0001c0001t0001g0204
a0001c0001t0001g0205
others(10): Show 
a0001c0001t0001g0014
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0209
a0001c0003t0001g0022
a0002c0002t0001g0002
a0002c0002t0001g0069
a0002c0002t0001g0208
a0002c0002t0001g0210
a0002c0002t0001g0221
a0002c0002t0002g0159
a0002c0010t0001g0010
a0003c0009t0001g0011
 13 HG01070.hp2
HG01891.hp1
HG02109.hp1
others(10): Show 
HG01070.hp2
HG01891.hp1
HG02109.hp1
HG02622.hp2
HG02630.hp1
HG02723.hp1
HG02809.hp2
HG02976.hp1
HG03453.hp1
HG03516.hp1
HG06807.hp1
NA18906.hp1
NA19030.hp2
 intron_variant MODIFIER c.374+1473T>C
c.374+1473T>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 chrX 1625871
chrX:1625889
AG
AG
 A
A
 1 a0012c0007t0001g0036
a0012c0007t0001g0036
 1 NA19082.hp1
NA19082.hp1
 intron_variant MODIFIER c.374+1493delG
c.374+1493delG
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chrX 1625889
chrX:1625891
G
G
 C
C
 1 a0002c0002t0001g0099
a0002c0002t0001g0099
 1 NA19077.hp2
NA19077.hp2
 intron_variant MODIFIER c.374+1493G>C
c.374+1493G>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 chrX 1625891
chrX:1625896
A
A
 G
G
 1 a0002c0002t0001g0099
a0002c0002t0001g0099
 1 NA19077.hp2
NA19077.hp2
 intron_variant MODIFIER c.374+1498A>G
c.374+1498A>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 chrX 1625896
chrX:1625904
A
A
 C
C
 1 a0006c0011t0001g0139
a0006c0011t0001g0139
 1 HG02559.hp2
HG02559.hp2
 intron_variant MODIFIER c.374+1506A>C
c.374+1506A>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 chrX 1625904
chrX:1625904
A
A
 G
G
 154 a0001c0001t0001g0006
a0001c0001t0001g0007
a0001c0001t0001g0008
others(151): Show 
a0001c0001t0001g0006
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0012
a0001c0001t0001g0014
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0019
a0001c0001t0001g0021
a0001c0001t0001g0027
a0001c0001t0001g0029
a0001c0001t0001g0035
a0001c0001t0001g0037
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0053
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0061
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0079
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0097
a0001c0001t0001g0100
a0001c0001t0001g0102
a0001c0001t0001g0103
a0001c0001t0001g0114
a0001c0001t0001g0118
a0001c0001t0001g0123
a0001c0001t0001g0128
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0174
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0209
a0001c0001t0001g0211
a0001c0001t0001g0215
a0001c0001t0002g0039
a0001c0001t0002g0120
a0001c0001t0002g0132
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0002g0140
a0001c0001t0002g0143
a0001c0001t0002g0144
a0001c0001t0002g0145
a0001c0001t0002g0147
a0001c0001t0002g0153
a0001c0001t0002g0161
a0001c0001t0002g0167
a0001c0001t0002g0168
a0001c0001t0002g0170
a0001c0001t0002g0180
a0001c0001t0002g0190
a0001c0001t0002g0200
a0001c0001t0002g0201
a0001c0001t0002g0218
a0001c0001t0003g0090
a0001c0003t0001g0013
a0001c0003t0001g0022
a0001c0003t0001g0038
a0001c0003t0001g0050
a0001c0003t0001g0051
a0001c0003t0001g0059
a0001c0003t0001g0062
a0001c0003t0001g0080
a0001c0003t0001g0091
a0001c0003t0001g0094
a0001c0003t0001g0107
a0001c0003t0001g0171
a0001c0003t0001g0219
a0001c0003t0002g0133
a0001c0003t0002g0142
a0001c0003t0002g0150
a0001c0003t0002g0155
a0001c0003t0002g0173
a0002c0002t0001g0002
a0002c0002t0001g0003
a0002c0002t0001g0009
a0002c0002t0001g0015
a0002c0002t0001g0020
a0002c0002t0001g0026
a0002c0002t0001g0042
a0002c0002t0001g0044
a0002c0002t0001g0066
a0002c0002t0001g0069
a0002c0002t0001g0073
a0002c0002t0001g0074
a0002c0002t0001g0078
a0002c0002t0001g0089
a0002c0002t0001g0095
a0002c0002t0001g0098
a0002c0002t0001g0108
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0119
a0002c0002t0001g0124
a0002c0002t0001g0125
a0002c0002t0001g0127
a0002c0002t0001g0129
a0002c0002t0001g0130
a0002c0002t0001g0151
a0002c0002t0001g0175
a0002c0002t0001g0185
a0002c0002t0001g0189
a0002c0002t0001g0208
a0002c0002t0001g0210
a0002c0002t0001g0220
a0002c0002t0001g0221
a0002c0002t0001g0222
a0002c0002t0002g0096
a0002c0002t0002g0112
a0002c0002t0002g0131
a0002c0002t0002g0146
a0002c0002t0002g0154
a0002c0002t0002g0156
a0002c0002t0002g0159
a0002c0002t0002g0162
a0002c0002t0002g0163
a0002c0002t0002g0166
a0002c0002t0002g0172
a0002c0002t0002g0178
a0002c0002t0002g0188
a0002c0002t0002g0191
a0002c0002t0002g0198
a0002c0002t0002g0199
a0002c0002t0002g0207
a0002c0002t0002g0213
a0002c0006t0001g0187
a0003c0005t0001g0202
a0003c0009t0001g0011
a0004c0004t0001g0169
a0008c0013t0001g0101
a0009c0014t0002g0075
a0010c0015t0002g0179
a0011c0008t0001g0034
a0014c0018t0001g0060
 154 HG00099.hp1
HG00323.hp1
HG00423.hp1
others(151): Show 
HG00099.hp1
HG00323.hp1
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00597.hp2
HG00639.hp1
HG00639.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp2
HG01123.hp2
HG01168.hp2
HG01256.hp1
HG01257.hp1
HG01257.hp2
HG01346.hp1
HG01361.hp1
HG01496.hp1
HG01496.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01891.hp1
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02273.hp2
HG02280.hp1
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02683.hp1
HG02683.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02976.hp1
HG03041.hp1
HG03195.hp1
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03486.hp2
HG03491.hp1
HG03516.hp1
HG03540.hp1
HG03669.hp1
HG03927.hp1
HG03927.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp1
NA18942.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18956.hp2
NA18963.hp2
NA18968.hp2
NA18973.hp1
NA18975.hp1
NA18975.hp2
NA18977.hp2
NA18981.hp1
NA18981.hp2
NA18988.hp1
NA18992.hp1
NA18998.hp1
NA18998.hp2
NA18999.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19030.hp2
NA19057.hp1
NA19057.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19072.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19085.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.374+1506A>G
c.374+1506A>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 chrX 1625904
chrX:1625909
C
C
 T
T
 13 a0001c0001t0001g0005
a0001c0001t0001g0068
a0001c0001t0001g0084
others(10): Show 
a0001c0001t0001g0005
a0001c0001t0001g0068
a0001c0001t0001g0084
a0001c0001t0001g0086
a0001c0001t0002g0152
a0001c0001t0002g0164
a0001c0001t0005g0165
a0001c0003t0001g0023
a0002c0002t0001g0031
a0002c0002t0001g0054
a0002c0002t0001g0085
a0002c0002t0001g0099
a0013c0017t0001g0111
 13 HG01175.hp1
HG01346.hp2
HG02004.hp1
others(10): Show 
HG01175.hp1
HG01346.hp2
HG02004.hp1
HG02273.hp1
HG02523.hp1
HG02602.hp2
HG03704.hp1
NA18947.hp2
NA18950.hp1
NA18974.hp1
NA18980.hp2
NA19077.hp2
NA19081.hp2
 intron_variant MODIFIER c.374+1511C>T
c.374+1511C>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 chrX 1625909
chrX:1625917
T
T
 C
C
 19 a0001c0001t0001g0006
a0001c0001t0001g0014
a0001c0001t0001g0017
others(16): Show 
a0001c0001t0001g0006
a0001c0001t0001g0014
a0001c0001t0001g0017
a0001c0001t0001g0019
a0001c0001t0001g0021
a0001c0001t0001g0072
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0209
a0001c0001t0003g0090
a0001c0003t0001g0022
a0002c0002t0001g0002
a0002c0002t0001g0020
a0002c0002t0001g0069
a0002c0002t0001g0208
a0002c0002t0001g0210
a0002c0002t0001g0221
a0002c0002t0002g0159
a0003c0009t0001g0011
 19 HG00741.hp2
HG01070.hp2
HG01891.hp1
others(16): Show 
HG00741.hp2
HG01070.hp2
HG01891.hp1
HG02109.hp1
HG02280.hp1
HG02630.hp1
HG02723.hp1
HG02809.hp2
HG02818.hp2
HG02976.hp1
HG03195.hp1
HG03453.hp1
HG03453.hp2
HG03516.hp1
HG03540.hp1
HG06807.hp1
NA18906.hp1
NA19030.hp2
NA20300.hp1
 intron_variant MODIFIER c.374+1519T>C
c.374+1519T>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 chrX 1625917
chrX:1625929
TG
TG
 T
T
 1 a0012c0007t0001g0036
a0012c0007t0001g0036
 1 NA19082.hp1
NA19082.hp1
 intron_variant MODIFIER c.374+1534delG
c.374+1534delG
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chrX 1625929
chrX:1625933
C
C
 T
T
 2 a0001c0001t0001g0005
a0002c0002t0001g0054
a0001c0001t0001g0005
a0002c0002t0001g0054
 2 NA18974.hp1
NA18980.hp2
NA18974.hp1
NA18980.hp2
 intron_variant MODIFIER c.374+1535C>T
c.374+1535C>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 chrX 1625933
chrX:1625934
G
G
 C
C
 1 a0002c0002t0001g0087
a0002c0002t0001g0087
 1 HG01168.hp1
HG01168.hp1
 intron_variant MODIFIER c.374+1536G>C
c.374+1536G>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 chrX 1625934
chrX:1625942
G
G
 A
A
 1 a0002c0002t0001g0057
a0002c0002t0001g0057
 1 HG01361.hp2
HG01361.hp2
 intron_variant MODIFIER c.374+1544G>A
c.374+1544G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 chrX 1625942
chrX:1625950
A
A
 G
G
 1 a0002c0002t0001g0221
a0002c0002t0001g0221
 1 HG01070.hp2
HG01070.hp2
 intron_variant MODIFIER c.374+1552A>G
c.374+1552A>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 chrX 1625950
chrX:1625954
C
C
 CA
CA
 11 a0001c0001t0001g0008
a0001c0001t0001g0072
a0001c0001t0001g0105
others(8): Show 
a0001c0001t0001g0008
a0001c0001t0001g0072
a0001c0001t0001g0105
a0001c0001t0001g0123
a0001c0001t0001g0211
a0001c0001t0001g0212
a0001c0001t0001g0215
a0001c0003t0001g0171
a0002c0002t0001g0009
a0002c0002t0001g0015
a0011c0008t0001g0034
 11 HG01884.hp1
HG01891.hp2
HG02523.hp2
others(8): Show 
HG01884.hp1
HG01891.hp2
HG02523.hp2
HG02809.hp1
HG02886.hp1
HG02896.hp1
HG02896.hp2
HG03453.hp2
NA18973.hp2
NA20129.hp1
NA21309.hp2
 intron_variant MODIFIER c.374+1575dupA
c.374+1575dupA
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chrX 1625954
chrX:1625954
C
C
 CAA
CAA
 72 a0001c0001t0001g0005
a0001c0001t0001g0006
a0001c0001t0001g0027
others(69): Show 
a0001c0001t0001g0005
a0001c0001t0001g0006
a0001c0001t0001g0027
a0001c0001t0001g0029
a0001c0001t0001g0035
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0064
a0001c0001t0001g0077
a0001c0001t0001g0081
a0001c0001t0001g0083
a0001c0001t0001g0128
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0203
a0001c0001t0001g0206
a0001c0001t0002g0039
a0001c0001t0002g0132
a0001c0001t0002g0135
a0001c0001t0002g0140
a0001c0001t0002g0144
a0001c0001t0002g0145
a0001c0001t0002g0147
a0001c0001t0002g0153
a0001c0001t0002g0161
a0001c0001t0002g0167
a0001c0001t0002g0168
a0001c0001t0002g0170
a0001c0001t0002g0190
a0001c0001t0002g0201
a0001c0001t0003g0090
a0001c0003t0001g0050
a0001c0003t0001g0051
a0001c0003t0001g0059
a0001c0003t0001g0091
a0001c0003t0001g0094
a0001c0003t0001g0107
a0001c0003t0002g0142
a0002c0002t0001g0003
a0002c0002t0001g0026
a0002c0002t0001g0066
a0002c0002t0001g0095
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0119
a0002c0002t0001g0125
a0002c0002t0001g0127
a0002c0002t0001g0129
a0002c0002t0001g0130
a0002c0002t0001g0151
a0002c0002t0001g0185
a0002c0002t0001g0189
a0002c0002t0001g0220
a0002c0002t0001g0222
a0002c0002t0002g0096
a0002c0002t0002g0112
a0002c0002t0002g0131
a0002c0002t0002g0146
a0002c0002t0002g0154
a0002c0002t0002g0156
a0002c0002t0002g0166
a0002c0002t0002g0172
a0002c0002t0002g0188
a0002c0002t0002g0207
a0002c0002t0002g0213
a0004c0004t0001g0169
a0010c0015t0002g0179
 72 HG00099.hp1
HG00323.hp1
HG00423.hp1
others(69): Show 
HG00099.hp1
HG00323.hp1
HG00423.hp1
HG00597.hp2
HG00639.hp1
HG00639.hp2
HG00733.hp2
HG01070.hp1
HG01071.hp1
HG01168.hp2
HG01496.hp1
HG01496.hp2
HG01516.hp1
HG01517.hp1
HG01975.hp2
HG01978.hp1
HG01993.hp1
HG02004.hp2
HG02080.hp1
HG02080.hp2
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02257.hp2
HG02273.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02615.hp2
HG02683.hp1
HG02723.hp2
HG02818.hp2
HG02886.hp2
HG03239.hp1
HG03491.hp1
HG03540.hp1
HG03669.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp2
HG06807.hp2
NA18906.hp2
NA18939.hp2
NA18941.hp1
NA18949.hp1
NA18949.hp2
NA18951.hp1
NA18954.hp1
NA18954.hp2
NA18963.hp2
NA18968.hp2
NA18973.hp1
NA18975.hp1
NA18975.hp2
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18992.hp1
NA18998.hp1
NA18999.hp2
NA19002.hp2
NA19003.hp2
NA19057.hp1
NA19057.hp2
NA19064.hp1
NA19072.hp2
NA19074.hp1
NA19077.hp1
NA19080.hp1
NA19081.hp1
 intron_variant MODIFIER c.374+1574_374+1575d
others(4): Show 
c.374+1574_374+1575dupAA
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chrX 1625954
chrX:1625954
C
C
 CAAA
CAAA
 10 a0001c0001t0001g0065
a0001c0001t0002g0120
a0001c0003t0002g0150
others(7): Show 
a0001c0001t0001g0065
a0001c0001t0002g0120
a0001c0003t0002g0150
a0002c0002t0001g0073
a0002c0002t0001g0089
a0002c0002t0001g0099
a0002c0002t0001g0108
a0002c0002t0001g0124
a0002c0006t0001g0187
a0009c0014t0002g0075
 10 HG00544.hp2
HG00733.hp1
HG01361.hp1
others(7): Show 
HG00544.hp2
HG00733.hp1
HG01361.hp1
HG02683.hp2
HG03927.hp2
NA19003.hp1
NA19010.hp2
NA19011.hp1
NA19077.hp2
NA19080.hp2
 intron_variant MODIFIER c.374+1573_374+1575d
others(5): Show 
c.374+1573_374+1575dupAAA
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chrX 1625954
chrX:1625954
C
C
 CAAAAAA
CAAAAAA
 10 a0001c0001t0001g0068
a0001c0001t0001g0084
a0001c0001t0002g0152
others(7): Show 
a0001c0001t0001g0068
a0001c0001t0001g0084
a0001c0001t0002g0152
a0001c0001t0002g0164
a0001c0001t0005g0165
a0001c0003t0001g0023
a0002c0002t0001g0031
a0002c0002t0001g0054
a0002c0002t0001g0085
a0013c0017t0001g0111
 10 HG01175.hp1
HG01346.hp2
HG02004.hp1
others(7): Show 
HG01175.hp1
HG01346.hp2
HG02004.hp1
HG02273.hp1
HG02523.hp1
HG02602.hp2
HG03704.hp1
NA18947.hp2
NA18974.hp1
NA19081.hp2
 intron_variant MODIFIER c.374+1570_374+1575d
others(8): Show 
c.374+1570_374+1575dupAAAAAA
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chrX 1625954
chrX:1625954
C
C
 CAAAAAAA
CAAAAAAA
 11 a0001c0001t0001g0014
a0001c0001t0001g0086
a0001c0001t0001g0204
others(8): Show 
a0001c0001t0001g0014
a0001c0001t0001g0086
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0209
a0001c0003t0001g0022
a0002c0002t0001g0002
a0002c0002t0001g0069
a0002c0002t0001g0210
a0002c0002t0001g0221
a0002c0002t0002g0159
 11 HG01070.hp2
HG01891.hp1
HG02630.hp1
others(8): Show 
HG01070.hp2
HG01891.hp1
HG02630.hp1
HG02723.hp1
HG02809.hp2
HG02976.hp1
HG03453.hp1
HG03516.hp1
HG06807.hp1
NA18906.hp1
NA18950.hp1
 intron_variant MODIFIER c.374+1569_374+1575d
others(9): Show 
c.374+1569_374+1575dupAAAAAAA
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chrX 1625954
chrX:1625954
C
C
 CAAAAAAA
others(1): Show 
CAAAAAAAA
 2 a0002c0002t0001g0208
a0003c0009t0001g0011
a0002c0002t0001g0208
a0003c0009t0001g0011
 2 HG02109.hp1
NA19030.hp2
HG02109.hp1
NA19030.hp2
 intron_variant MODIFIER c.374+1568_374+1575d
others(10): Show 
c.374+1568_374+1575dupAAAAAAAA
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chrX 1625954
chrX:1625954
CA
CA
 C
C
 9 a0001c0001t0001g0017
a0001c0001t0001g0019
a0001c0001t0001g0021
others(6): Show 
a0001c0001t0001g0017
a0001c0001t0001g0019
a0001c0001t0001g0021
a0001c0001t0001g0192
a0001c0001t0001g0214
a0002c0002t0001g0020
a0002c0002t0001g0122
a0002c0002t0002g0162
a0005c0016t0001g0045
 9 HG00438.hp1
HG00741.hp2
HG02280.hp1
others(6): Show 
HG00438.hp1
HG00741.hp2
HG02280.hp1
HG02622.hp1
HG03195.hp1
HG03540.hp2
NA18951.hp2
NA19030.hp1
NA20300.hp1
 intron_variant MODIFIER c.374+1575delA
c.374+1575delA
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chrX 1625954
chrX:1625954
CAA
CAA
 C
C
 45 a0001c0001t0001g0007
a0001c0001t0001g0012
a0001c0001t0001g0037
others(42): Show 
a0001c0001t0001g0007
a0001c0001t0001g0012
a0001c0001t0001g0037
a0001c0001t0001g0046
a0001c0001t0001g0053
a0001c0001t0001g0061
a0001c0001t0001g0063
a0001c0001t0001g0076
a0001c0001t0001g0079
a0001c0001t0001g0082
a0001c0001t0001g0097
a0001c0001t0001g0100
a0001c0001t0001g0102
a0001c0001t0001g0103
a0001c0001t0001g0114
a0001c0001t0001g0118
a0001c0001t0001g0174
a0001c0001t0001g0194
a0001c0001t0002g0134
a0001c0001t0002g0143
a0001c0001t0002g0180
a0001c0001t0002g0200
a0001c0001t0002g0218
a0001c0003t0001g0013
a0001c0003t0001g0038
a0001c0003t0001g0062
a0001c0003t0001g0080
a0001c0003t0001g0219
a0001c0003t0002g0133
a0001c0003t0002g0155
a0001c0003t0002g0173
a0002c0002t0001g0042
a0002c0002t0001g0044
a0002c0002t0001g0074
a0002c0002t0001g0078
a0002c0002t0001g0098
a0002c0002t0001g0175
a0002c0002t0002g0163
a0002c0002t0002g0178
a0002c0002t0002g0191
a0002c0002t0002g0198
a0002c0002t0002g0199
a0002c0010t0001g0010
a0003c0005t0001g0202
a0008c0013t0001g0101
 45 HG00423.hp2
HG00544.hp1
HG00597.hp1
others(42): Show 
HG00423.hp2
HG00544.hp1
HG00597.hp1
HG00735.hp1
HG00741.hp1
HG01071.hp2
HG01081.hp2
HG01123.hp2
HG01256.hp1
HG01257.hp1
HG01257.hp2
HG01346.hp1
HG01516.hp2
HG01517.hp2
HG01975.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp2
HG02109.hp2
HG02148.hp1
HG02257.hp1
HG02615.hp1
HG02622.hp2
HG02630.hp2
HG02818.hp1
HG02922.hp1
HG03486.hp2
HG03927.hp1
NA18939.hp1
NA18942.hp2
NA18950.hp2
NA18955.hp1
NA18956.hp2
NA18977.hp2
NA18998.hp2
NA19002.hp1
NA19010.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19074.hp2
NA19085.hp1
NA19240.hp2
NA21309.hp1
 intron_variant MODIFIER c.374+1574_374+1575d
others(4): Show 
c.374+1574_374+1575delAA
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chrX 1625954
chrX:1625954
CAAA
CAAA
 C
C
 2 a0006c0011t0001g0139
a0014c0018t0001g0060
a0006c0011t0001g0139
a0014c0018t0001g0060
 2 HG02559.hp2
NA18988.hp1
HG02559.hp2
NA18988.hp1
 intron_variant MODIFIER c.374+1573_374+1575d
others(5): Show 
c.374+1573_374+1575delAAA
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chrX 1625954
chrX:1625954
CAAAA
CAAAA
 C
C
 2 a0001c0001t0001g0001
a0001c0001t0001g0158
a0001c0001t0001g0001
a0001c0001t0001g0158
 3 HG02559.hp1
HG03195.hp2
NA19240.hp1
HG02559.hp1
HG03195.hp2
NA19240.hp1
 intron_variant MODIFIER c.374+1572_374+1575d
others(6): Show 
c.374+1572_374+1575delAAAA
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chrX 1625954
chrX:1625984
TG
TG
 T
T
 1 a0012c0007t0001g0036
a0012c0007t0001g0036
 1 NA19082.hp1
NA19082.hp1
 intron_variant MODIFIER c.374+1589delG
c.374+1589delG
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chrX 1625984
chrX:1625995
AG
AG
 A
A
 1 a0012c0007t0001g0036
a0012c0007t0001g0036
 1 NA19082.hp1
NA19082.hp1
 intron_variant MODIFIER c.374+1602delG
c.374+1602delG
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chrX 1625995
chrX:1626009
AC
AC
 A
A
 1 a0002c0002t0001g0108
a0002c0002t0001g0108
 1 NA19080.hp2
NA19080.hp2
 intron_variant MODIFIER c.374+1613delC
c.374+1613delC
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chrX 1626009
chrX:1626017
C
C
 CT
CT
 1 a0002c0002t0001g0108
a0002c0002t0001g0108
 1 NA19080.hp2
NA19080.hp2
 intron_variant MODIFIER c.374+1621dupT
c.374+1621dupT
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chrX 1626017
chrX:1626090
G
G
 T
T
 1 a0002c0002t0001g0018
a0002c0002t0001g0018
 1 HG03834.hp1
HG03834.hp1
 intron_variant MODIFIER c.375-1613G>T
c.375-1613G>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 chrX 1626090
chrX:1626107
GA
GA
 G
G
 1 a0002c0002t0001g0108
a0002c0002t0001g0108
 1 NA19080.hp2
NA19080.hp2
 intron_variant MODIFIER c.375-1590delA
c.375-1590delA
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chrX 1626107
chrX:1626108
A
A
 AAAAAAGG
others(9): Show 
AAAAAAGGAAGGAAAAG
 1 a0001c0003t0002g0182
a0001c0003t0002g0182
 1 NA18985.hp1
NA18985.hp1
 intron_variant MODIFIER c.375-1594_375-1579d
others(18): Show 
c.375-1594_375-1579dupAAAAAGGAAGGAAAAG
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chrX 1626108
chrX:1626139
C
C
 G
G
 2 a0001c0001t0001g0016
a0002c0010t0001g0010
a0001c0001t0001g0016
a0002c0010t0001g0010
 2 HG02622.hp2
HG02922.hp2
HG02622.hp2
HG02922.hp2
 intron_variant MODIFIER c.375-1564C>G
c.375-1564C>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 chrX 1626139
chrX:1626147
T
T
 C
C
 13 a0001c0001t0001g0006
a0001c0001t0001g0014
a0001c0001t0001g0204
others(10): Show 
a0001c0001t0001g0006
a0001c0001t0001g0014
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0209
a0001c0001t0003g0090
a0001c0003t0001g0022
a0002c0002t0001g0002
a0002c0002t0001g0069
a0002c0002t0001g0208
a0002c0002t0001g0210
a0002c0002t0002g0159
a0003c0009t0001g0011
 13 HG01891.hp1
HG02109.hp1
HG02630.hp1
others(10): Show 
HG01891.hp1
HG02109.hp1
HG02630.hp1
HG02723.hp1
HG02809.hp2
HG02818.hp2
HG02976.hp1
HG03453.hp1
HG03516.hp1
HG03540.hp1
HG06807.hp1
NA18906.hp1
NA19030.hp2
 intron_variant MODIFIER c.375-1556T>C
c.375-1556T>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 chrX 1626147
chrX:1626176
A
A
 AG
AG
 1 a0002c0002t0001g0108
a0002c0002t0001g0108
 1 NA19080.hp2
NA19080.hp2
 intron_variant MODIFIER c.375-1525dupG
c.375-1525dupG
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chrX 1626176
chrX:1626208
GT
GT
 G
G
 1 a0012c0007t0001g0036
a0012c0007t0001g0036
 1 NA19082.hp1
NA19082.hp1
 intron_variant MODIFIER c.375-1492delT
c.375-1492delT
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chrX 1626208
chrX:1626234
C
C
 CT
CT
 5 a0001c0001t0001g0212
a0001c0003t0002g0182
a0002c0002t0001g0018
others(2): Show 
a0001c0001t0001g0212
a0001c0003t0002g0182
a0002c0002t0001g0018
a0002c0002t0001g0126
a0007c0012t0001g0109
 5 HG01891.hp2
HG03239.hp2
HG03834.hp1
others(2): Show 
HG01891.hp2
HG03239.hp2
HG03834.hp1
NA18963.hp1
NA18985.hp1
 intron_variant MODIFIER c.375-1451dupT
c.375-1451dupT
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chrX 1626234
chrX:1626234
CT
CT
 C
C
 136 a0001c0001t0001g0005
a0001c0001t0001g0007
a0001c0001t0001g0008
others(133): Show 
a0001c0001t0001g0005
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0012
a0001c0001t0001g0027
a0001c0001t0001g0035
a0001c0001t0001g0037
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0046
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0061
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0068
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0079
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0086
a0001c0001t0001g0100
a0001c0001t0001g0102
a0001c0001t0001g0103
a0001c0001t0001g0114
a0001c0001t0001g0118
a0001c0001t0001g0123
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0174
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0206
a0001c0001t0001g0211
a0001c0001t0001g0214
a0001c0001t0001g0215
a0001c0001t0002g0120
a0001c0001t0002g0132
a0001c0001t0002g0134
a0001c0001t0002g0140
a0001c0001t0002g0143
a0001c0001t0002g0144
a0001c0001t0002g0145
a0001c0001t0002g0152
a0001c0001t0002g0153
a0001c0001t0002g0161
a0001c0001t0002g0164
a0001c0001t0002g0180
a0001c0001t0002g0184
a0001c0001t0002g0190
a0001c0001t0002g0196
a0001c0001t0002g0200
a0001c0001t0002g0201
a0001c0001t0002g0218
a0001c0001t0005g0165
a0001c0003t0001g0013
a0001c0003t0001g0023
a0001c0003t0001g0038
a0001c0003t0001g0050
a0001c0003t0001g0051
a0001c0003t0001g0059
a0001c0003t0001g0062
a0001c0003t0001g0070
a0001c0003t0001g0080
a0001c0003t0001g0093
a0001c0003t0001g0094
a0001c0003t0001g0107
a0001c0003t0001g0219
a0001c0003t0002g0133
a0001c0003t0002g0142
a0001c0003t0002g0150
a0001c0003t0002g0155
a0001c0003t0002g0173
a0002c0002t0001g0003
a0002c0002t0001g0009
a0002c0002t0001g0015
a0002c0002t0001g0026
a0002c0002t0001g0031
a0002c0002t0001g0042
a0002c0002t0001g0044
a0002c0002t0001g0054
a0002c0002t0001g0066
a0002c0002t0001g0073
a0002c0002t0001g0078
a0002c0002t0001g0085
a0002c0002t0001g0095
a0002c0002t0001g0098
a0002c0002t0001g0099
a0002c0002t0001g0108
a0002c0002t0001g0119
a0002c0002t0001g0122
a0002c0002t0001g0124
a0002c0002t0001g0125
a0002c0002t0001g0127
a0002c0002t0001g0129
a0002c0002t0001g0130
a0002c0002t0001g0151
a0002c0002t0001g0175
a0002c0002t0001g0220
a0002c0002t0001g0221
a0002c0002t0001g0222
a0002c0002t0002g0096
a0002c0002t0002g0131
a0002c0002t0002g0146
a0002c0002t0002g0156
a0002c0002t0002g0162
a0002c0002t0002g0163
a0002c0002t0002g0166
a0002c0002t0002g0172
a0002c0002t0002g0178
a0002c0002t0002g0181
a0002c0002t0002g0188
a0002c0002t0002g0191
a0002c0002t0002g0198
a0002c0002t0002g0199
a0002c0002t0002g0207
a0002c0002t0002g0213
a0002c0002t0002g0216
a0002c0006t0001g0187
a0002c0010t0001g0010
a0003c0005t0001g0202
a0003c0009t0001g0011
a0004c0004t0001g0169
a0005c0016t0001g0045
a0006c0011t0001g0139
a0009c0014t0002g0075
a0010c0015t0002g0179
a0011c0008t0001g0034
a0013c0017t0001g0111
a0014c0018t0001g0060
 136 HG00099.hp1
HG00099.hp2
HG00423.hp1
others(133): Show 
HG00099.hp1
HG00099.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00733.hp2
HG00735.hp1
HG00741.hp1
HG01070.hp2
HG01071.hp2
HG01081.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp2
HG01175.hp1
HG01256.hp1
HG01257.hp1
HG01257.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01496.hp1
HG01496.hp2
HG01516.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01975.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02523.hp1
HG02523.hp2
HG02559.hp2
HG02602.hp2
HG02615.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02683.hp1
HG02683.hp2
HG02723.hp2
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG03041.hp1
HG03239.hp1
HG03453.hp2
HG03486.hp2
HG03491.hp1
HG03540.hp2
HG03669.hp1
HG03704.hp1
HG03927.hp1
HG03927.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp2
HG06807.hp2
NA18906.hp2
NA18939.hp2
NA18942.hp2
NA18947.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp2
NA18955.hp1
NA18956.hp2
NA18963.hp2
NA18968.hp2
NA18973.hp1
NA18974.hp1
NA18975.hp1
NA18977.hp2
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18986.hp2
NA18988.hp1
NA18992.hp1
NA18998.hp2
NA18999.hp2
NA19002.hp1
NA19003.hp1
NA19003.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19057.hp1
NA19057.hp2
NA19064.hp1
NA19065.hp1
NA19065.hp2
NA19072.hp2
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19085.hp1
NA19240.hp2
NA20129.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.375-1451delT
c.375-1451delT
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chrX 1626234
chrX:1626234
CTT
CTT
 C
C
 33 a0001c0001t0001g0006
a0001c0001t0001g0014
a0001c0001t0001g0016
others(30): Show 
a0001c0001t0001g0006
a0001c0001t0001g0014
a0001c0001t0001g0016
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0056
a0001c0001t0001g0097
a0001c0001t0001g0128
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0209
a0001c0001t0002g0039
a0001c0001t0002g0135
a0001c0001t0002g0147
a0001c0001t0002g0167
a0001c0001t0002g0168
a0001c0001t0002g0170
a0001c0001t0003g0090
a0001c0003t0001g0022
a0001c0003t0001g0171
a0002c0002t0001g0002
a0002c0002t0001g0069
a0002c0002t0001g0089
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0185
a0002c0002t0001g0208
a0002c0002t0001g0210
a0002c0002t0002g0112
a0002c0002t0002g0154
a0002c0002t0002g0159
a0008c0013t0001g0101
 33 HG00323.hp1
HG00639.hp1
HG00639.hp2
others(30): Show 
HG00323.hp1
HG00639.hp1
HG00639.hp2
HG00733.hp1
HG01070.hp1
HG01071.hp1
HG01516.hp1
HG01517.hp1
HG01891.hp1
HG01975.hp2
HG02109.hp1
HG02165.hp1
HG02615.hp2
HG02630.hp1
HG02723.hp1
HG02809.hp2
HG02818.hp2
HG02922.hp2
HG02976.hp1
HG03453.hp1
HG03516.hp1
HG03540.hp1
HG06807.hp1
NA18906.hp1
NA18939.hp1
NA18941.hp1
NA18954.hp1
NA18975.hp2
NA18998.hp1
NA19064.hp2
NA19074.hp1
NA19080.hp1
NA21309.hp2
 intron_variant MODIFIER c.375-1452_375-1451d
others(4): Show 
c.375-1452_375-1451delTT
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chrX 1626234
chrX:1626239
T
T
 C
C
 1 a0002c0002t0002g0136
a0002c0002t0002g0136
 1 HG03486.hp1
HG03486.hp1
 intron_variant MODIFIER c.375-1464T>C
c.375-1464T>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 chrX 1626239
chrX:1626258
A
A
 C
C
 13 a0001c0001t0001g0006
a0001c0001t0001g0014
a0001c0001t0001g0204
others(10): Show 
a0001c0001t0001g0006
a0001c0001t0001g0014
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0209
a0001c0001t0003g0090
a0001c0003t0001g0022
a0002c0002t0001g0002
a0002c0002t0001g0069
a0002c0002t0001g0208
a0002c0002t0001g0210
a0002c0002t0002g0159
a0003c0009t0001g0011
 13 HG01891.hp1
HG02109.hp1
HG02630.hp1
others(10): Show 
HG01891.hp1
HG02109.hp1
HG02630.hp1
HG02723.hp1
HG02809.hp2
HG02818.hp2
HG02976.hp1
HG03453.hp1
HG03516.hp1
HG03540.hp1
HG06807.hp1
NA18906.hp1
NA19030.hp2
 intron_variant MODIFIER c.375-1445A>C
c.375-1445A>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 chrX 1626258
chrX:1626284
G
G
 C
C
 5 a0001c0001t0001g0214
a0002c0002t0001g0122
a0002c0002t0001g0175
others(2): Show 
a0001c0001t0001g0214
a0002c0002t0001g0122
a0002c0002t0001g0175
a0002c0002t0001g0221
a0005c0016t0001g0045
 5 HG01070.hp2
HG02622.hp1
HG03540.hp2
others(2): Show 
HG01070.hp2
HG02622.hp1
HG03540.hp2
NA19030.hp1
NA19240.hp2
 intron_variant MODIFIER c.375-1419G>C
c.375-1419G>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 chrX 1626284
chrX:1626300
T
T
 C
C
 7 a0001c0001t0001g0008
a0001c0001t0001g0071
a0001c0001t0001g0072
others(4): Show 
a0001c0001t0001g0008
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0123
a0001c0001t0001g0211
a0001c0001t0001g0215
a0002c0002t0001g0009
 7 HG01884.hp1
HG02809.hp1
HG02886.hp1
others(4): Show 
HG01884.hp1
HG02809.hp1
HG02886.hp1
HG02896.hp1
HG03041.hp1
HG03453.hp2
NA20129.hp1
 intron_variant MODIFIER c.375-1403T>C
c.375-1403T>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 chrX 1626300
chrX:1626320
C
C
 CG
CG
 1 a0012c0007t0001g0036
a0012c0007t0001g0036
 1 NA19082.hp1
NA19082.hp1
 intron_variant MODIFIER c.375-1382dupG
c.375-1382dupG
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chrX 1626320
chrX:1626342
C
C
 CA
CA
 1 a0012c0007t0001g0036
a0012c0007t0001g0036
 1 NA19082.hp1
NA19082.hp1
 intron_variant MODIFIER c.375-1360dupA
c.375-1360dupA
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chrX 1626342
chrX:1626356
TC
TC
 T
T
 1 a0002c0002t0001g0108
a0002c0002t0001g0108
 1 NA19080.hp2
NA19080.hp2
 intron_variant MODIFIER c.375-1343delC
c.375-1343delC
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chrX 1626356
chrX:1626367
TG
TG
 T
T
 1 a0012c0007t0001g0036
a0012c0007t0001g0036
 1 NA19082.hp1
NA19082.hp1
 intron_variant MODIFIER c.375-1333delG
c.375-1333delG
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chrX 1626367
chrX:1626407
G
G
 C
C
 72 a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0012
others(69): Show 
a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0012
a0001c0001t0001g0014
a0001c0001t0001g0037
a0001c0001t0001g0046
a0001c0001t0001g0053
a0001c0001t0001g0061
a0001c0001t0001g0063
a0001c0001t0001g0068
a0001c0001t0001g0076
a0001c0001t0001g0079
a0001c0001t0001g0082
a0001c0001t0001g0084
a0001c0001t0001g0086
a0001c0001t0001g0097
a0001c0001t0001g0100
a0001c0001t0001g0102
a0001c0001t0001g0103
a0001c0001t0001g0114
a0001c0001t0001g0118
a0001c0001t0001g0158
a0001c0001t0001g0174
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0203
a0001c0001t0002g0134
a0001c0001t0002g0143
a0001c0001t0002g0152
a0001c0001t0002g0164
a0001c0001t0002g0180
a0001c0001t0002g0196
a0001c0001t0002g0200
a0001c0001t0002g0218
a0001c0001t0005g0165
a0001c0003t0001g0013
a0001c0003t0001g0022
a0001c0003t0001g0023
a0001c0003t0001g0038
a0001c0003t0001g0062
a0001c0003t0001g0070
a0001c0003t0001g0080
a0001c0003t0001g0219
a0001c0003t0002g0133
a0001c0003t0002g0155
a0001c0003t0002g0173
a0002c0002t0001g0015
a0002c0002t0001g0031
a0002c0002t0001g0042
a0002c0002t0001g0044
a0002c0002t0001g0054
a0002c0002t0001g0078
a0002c0002t0001g0085
a0002c0002t0001g0098
a0002c0002t0001g0119
a0002c0002t0001g0124
a0002c0002t0002g0162
a0002c0002t0002g0163
a0002c0002t0002g0178
a0002c0002t0002g0181
a0002c0002t0002g0191
a0002c0002t0002g0198
a0002c0002t0002g0199
a0002c0002t0002g0216
a0002c0006t0001g0187
a0002c0010t0001g0010
a0003c0005t0001g0202
a0003c0009t0001g0011
a0008c0013t0001g0101
a0009c0014t0002g0075
a0013c0017t0001g0111
a0014c0018t0001g0060
 73 HG00099.hp2
HG00423.hp2
HG00438.hp1
others(70): Show 
HG00099.hp2
HG00423.hp2
HG00438.hp1
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00735.hp1
HG00741.hp1
HG01071.hp2
HG01081.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp2
HG01175.hp1
HG01256.hp1
HG01257.hp1
HG01257.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01516.hp2
HG01517.hp2
HG01884.hp2
HG01975.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp2
HG02004.hp1
HG02109.hp2
HG02148.hp1
HG02257.hp1
HG02273.hp1
HG02451.hp2
HG02523.hp1
HG02559.hp1
HG02602.hp2
HG02615.hp1
HG02622.hp2
HG02630.hp2
HG02683.hp2
HG02818.hp1
HG02896.hp2
HG02922.hp1
HG03195.hp2
HG03486.hp2
HG03704.hp1
HG03927.hp1
HG06807.hp1
NA18906.hp1
NA18939.hp1
NA18942.hp2
NA18947.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp2
NA18955.hp1
NA18956.hp2
NA18974.hp1
NA18977.hp2
NA18988.hp1
NA18998.hp2
NA19002.hp1
NA19010.hp1
NA19030.hp2
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19074.hp2
NA19081.hp2
NA19085.hp1
NA19240.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.375-1296G>C
c.375-1296G>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 chrX 1626407
chrX:1626407
G
G
 GTC
GTC
 1 a0001c0003t0001g0091
a0001c0003t0001g0091
 1 HG00597.hp2
HG00597.hp2
 intron_variant MODIFIER c.375-1295_375-1294i
others(4): Show 
c.375-1295_375-1294insCT
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chrX 1626407
chrX:1626423
G
G
 C
C
 12 a0001c0001t0001g0006
a0001c0001t0001g0043
a0001c0001t0001g0121
others(9): Show 
a0001c0001t0001g0006
a0001c0001t0001g0043
a0001c0001t0001g0121
a0001c0001t0001g0214
a0001c0001t0003g0090
a0002c0002t0001g0069
a0002c0002t0001g0122
a0002c0002t0001g0175
a0002c0002t0001g0208
a0002c0002t0001g0221
a0005c0016t0001g0045
a0006c0011t0001g0139
 12 HG01070.hp2
HG01891.hp1
HG02109.hp1
others(9): Show 
HG01070.hp2
HG01891.hp1
HG02109.hp1
HG02559.hp2
HG02622.hp1
HG02818.hp2
HG02976.hp2
HG03041.hp2
HG03540.hp1
HG03540.hp2
NA19030.hp1
NA19240.hp2
 intron_variant MODIFIER c.375-1280G>C
c.375-1280G>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 chrX 1626423
chrX:1626429
A
A
 AC
AC
 1 a0002c0002t0001g0108
a0002c0002t0001g0108
 1 NA19080.hp2
NA19080.hp2
 intron_variant MODIFIER c.375-1271dupC
c.375-1271dupC
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chrX 1626429
chrX:1626443
G
G
 A
A
 1 a0002c0002t0001g0119
a0002c0002t0001g0119
 1 HG01168.hp2
HG01168.hp2
 intron_variant MODIFIER c.375-1260G>A
c.375-1260G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 chrX 1626443
chrX:1626475
G
G
 GC
GC
 1 a0001c0003t0001g0091
a0001c0003t0001g0091
 1 HG00597.hp2
HG00597.hp2
 intron_variant MODIFIER c.375-1223dupC
c.375-1223dupC
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chrX 1626475
chrX:1626477
C
C
 T
T
 1 a0002c0002t0002g0112
a0002c0002t0002g0112
 1 NA18941.hp1
NA18941.hp1
 intron_variant MODIFIER c.375-1226C>T
c.375-1226C>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 chrX 1626477
chrX:1626497
G
G
 A
A
 1 a0001c0001t0001g0061
a0001c0001t0001g0061
 1 HG01981.hp1
HG01981.hp1
 intron_variant MODIFIER c.375-1206G>A
c.375-1206G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 chrX 1626497
chrX:1626512
G
G
 C
C
 1 a0009c0014t0002g0075
a0009c0014t0002g0075
 1 HG02683.hp2
HG02683.hp2
 intron_variant MODIFIER c.375-1191G>C
c.375-1191G>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 chrX 1626512
chrX:1626518
G
G
 GC
GC
 1 a0002c0002t0001g0108
a0002c0002t0001g0108
 1 NA19080.hp2
NA19080.hp2
 intron_variant MODIFIER c.375-1183dupC
c.375-1183dupC
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chrX 1626518
chrX:1626521
A
A
 C
C
 1 a0009c0014t0002g0075
a0009c0014t0002g0075
 1 HG02683.hp2
HG02683.hp2
 intron_variant MODIFIER c.375-1182A>C
c.375-1182A>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 chrX 1626521
chrX:1626526
G
G
 GC
GC
 1 a0002c0002t0001g0108
a0002c0002t0001g0108
 1 NA19080.hp2
NA19080.hp2
 intron_variant MODIFIER c.375-1174dupC
c.375-1174dupC
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chrX 1626526
chrX:1626526
GC
GC
 G
G
 2 a0011c0008t0001g0034
a0012c0007t0001g0036
a0011c0008t0001g0034
a0012c0007t0001g0036
 2 HG02523.hp2
NA19082.hp1
HG02523.hp2
NA19082.hp1
 intron_variant MODIFIER c.375-1174delC
c.375-1174delC
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chrX 1626526
chrX:1626533
CT
CT
 C
C
 1 a0012c0007t0001g0036
a0012c0007t0001g0036
 1 NA19082.hp1
NA19082.hp1
 intron_variant MODIFIER c.375-1167delT
c.375-1167delT
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chrX 1626533
chrX:1626613
T
T
 TA
TA
 1 a0001c0003t0001g0091
a0001c0003t0001g0091
 1 HG00597.hp2
HG00597.hp2
 intron_variant MODIFIER c.375-1086dupA
c.375-1086dupA
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chrX 1626613
chrX:1626643
T
T
 C
C
 2 a0001c0001t0001g0105
a0001c0001t0001g0106
a0001c0001t0001g0105
a0001c0001t0001g0106
 2 NA18973.hp2
NA19091.hp1
NA18973.hp2
NA19091.hp1
 intron_variant MODIFIER c.375-1060T>C
c.375-1060T>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 chrX 1626643
chrX:1626728
A
A
 G
G
 7 a0001c0001t0001g0007
a0001c0001t0001g0012
a0001c0001t0001g0046
others(4): Show 
a0001c0001t0001g0007
a0001c0001t0001g0012
a0001c0001t0001g0046
a0001c0001t0001g0118
a0001c0001t0001g0205
a0001c0003t0002g0133
a0003c0005t0001g0202
 7 HG02109.hp2
HG02257.hp1
HG02630.hp2
others(4): Show 
HG02109.hp2
HG02257.hp1
HG02630.hp2
HG02723.hp1
HG02818.hp1
HG02922.hp1
HG03486.hp2
 intron_variant MODIFIER c.375-975A>G
c.375-975A>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 chrX 1626728
chrX:1626766
G
G
 A
A
 1 a0001c0003t0002g0150
a0001c0003t0002g0150
 1 NA19010.hp2
NA19010.hp2
 intron_variant MODIFIER c.375-937G>A
c.375-937G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 chrX 1626766
chrX:1626798
C
C
 T
T
 78 a0001c0001t0001g0005
a0001c0001t0001g0027
a0001c0001t0001g0035
others(75): Show 
a0001c0001t0001g0005
a0001c0001t0001g0027
a0001c0001t0001g0035
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0077
a0001c0001t0001g0081
a0001c0001t0001g0083
a0001c0001t0001g0128
a0001c0001t0001g0137
a0001c0001t0001g0204
a0001c0001t0001g0206
a0001c0001t0001g0209
a0001c0001t0002g0039
a0001c0001t0002g0132
a0001c0001t0002g0135
a0001c0001t0002g0140
a0001c0001t0002g0144
a0001c0001t0002g0145
a0001c0001t0002g0147
a0001c0001t0002g0153
a0001c0001t0002g0161
a0001c0001t0002g0164
a0001c0001t0002g0167
a0001c0001t0002g0168
a0001c0001t0002g0170
a0001c0001t0002g0190
a0001c0001t0002g0201
a0001c0003t0001g0050
a0001c0003t0001g0051
a0001c0003t0001g0059
a0001c0003t0001g0091
a0001c0003t0001g0094
a0001c0003t0001g0107
a0001c0003t0001g0171
a0001c0003t0002g0142
a0002c0002t0001g0002
a0002c0002t0001g0003
a0002c0002t0001g0026
a0002c0002t0001g0066
a0002c0002t0001g0073
a0002c0002t0001g0089
a0002c0002t0001g0095
a0002c0002t0001g0099
a0002c0002t0001g0108
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0125
a0002c0002t0001g0127
a0002c0002t0001g0129
a0002c0002t0001g0130
a0002c0002t0001g0151
a0002c0002t0001g0185
a0002c0002t0001g0210
a0002c0002t0001g0220
a0002c0002t0001g0222
a0002c0002t0002g0096
a0002c0002t0002g0112
a0002c0002t0002g0131
a0002c0002t0002g0146
a0002c0002t0002g0154
a0002c0002t0002g0156
a0002c0002t0002g0159
a0002c0002t0002g0166
a0002c0002t0002g0172
a0002c0002t0002g0186
a0002c0002t0002g0188
a0002c0002t0002g0207
a0002c0002t0002g0213
a0010c0015t0002g0179
a0011c0008t0001g0034
 78 HG00099.hp1
HG00323.hp1
HG00423.hp1
others(75): Show 
HG00099.hp1
HG00323.hp1
HG00423.hp1
HG00597.hp2
HG00639.hp1
HG00639.hp2
HG00733.hp1
HG00733.hp2
HG01070.hp1
HG01071.hp1
HG01496.hp1
HG01496.hp2
HG01516.hp1
HG01517.hp1
HG01975.hp2
HG01978.hp1
HG01993.hp1
HG02004.hp2
HG02080.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02257.hp2
HG02273.hp2
HG02293.hp1
HG02293.hp2
HG02523.hp2
HG02602.hp2
HG02615.hp2
HG02630.hp1
HG02683.hp1
HG02723.hp2
HG02809.hp2
HG02976.hp1
HG03239.hp1
HG03453.hp1
HG03491.hp1
HG03516.hp1
HG03669.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp2
HG06807.hp2
NA18906.hp2
NA18939.hp2
NA18941.hp1
NA18949.hp1
NA18949.hp2
NA18951.hp1
NA18954.hp1
NA18954.hp2
NA18963.hp2
NA18968.hp1
NA18968.hp2
NA18973.hp1
NA18975.hp1
NA18975.hp2
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18992.hp1
NA18998.hp1
NA18999.hp2
NA19003.hp1
NA19003.hp2
NA19011.hp1
NA19057.hp1
NA19057.hp2
NA19064.hp1
NA19072.hp2
NA19074.hp1
NA19077.hp1
NA19077.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA21309.hp2
 intron_variant MODIFIER c.375-905C>T
c.375-905C>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 chrX 1626798
chrX:1626799
G
G
 GGGTGGAT
others(884): Show 
GGGTGGATCACCTGAGGTCACGAGTTCGAGACCAGCCTGACCAACATAGT
GAAACCCCATCTCTACTAAAAAATACAAAAATGAGCCAGGCATGGTGGCG
GGTGCCTGTCATCCCAGCTACTCGGGAGGTTGAGGCAGGAGAATCGCTTG
AACCCAGGAGGTGGAGATTGCAGTGAGCCAAGATCGCGCCATTGCACTCC
AGCCTGGGCGACACAGCGAGACTCCGTCTCATAAAATAAAATAAGGCCAG
GTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGG
CAGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATAGTGAA
ACCCCATCTCTACTAAAAAATACAAAAATGAGCCAGGCATGGTGGCGGGT
GCCTGTCATCCCAGCTACTCGGGAGGTTGAGGCAGGAGAATCGCTTGAAC
CGAGGAGGCGGAGATTACAGTGAGCCAAGATCGCGCCATTGCACTCCAGC
CTGGGCGACACAGCGAGACTCCGTCTCATAAAATAAAATAAGGCCAGGTG
CGGTGGCTCACGCCTGTAATCCCAGCACTTTGAGAGGCCGAGGCAGGTGG
ATCACCTGAGGTCACGAGTTCGAGACCAGCCTGACCAACATAGTGAAACC
CCATCTCTACTAAAAAATACAAAAATGAGCCAGGCATGGTGGCGGGTGCC
TGTCATCCCAGCTACTCGGGAGGTTGAGGCAGGAGAATCGCTTGAACCGA
GGAGGTGGAGATTGCAGTGAGCCAAGATCGCGCCATTGCACTCCAGCCTG
GGCGACACAGCGAGACTCCGTCTCATAAAATAAAATAAGGCCAGGTGCGG
TGGCTCACGCCTGTAATCCCAGCACTTTGAGAGGCCGAGGCA
 1 a0002c0002t0002g0160
a0002c0002t0002g0160
 1 HG03516.hp2
HG03516.hp2
 intron_variant MODIFIER c.375-751_375-750ins
others(891): Show 
c.375-751_375-750insCAGGAGGTGGAGATTGCAGTGAGCCAAGAT
CGCGCCATTGCACTCCAGCCTGGGCGACACAGCGAGACTCCGTCTCATAA
AATAAAATAAGGCCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTT
GGGAGGCCAAGGCGGGCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCC
TGACCAACATAGTGAAACCCCATCTCTACTAAAAAATACAAAAATGAGCC
AGGCATGGTGGCGGGTGCCTGTCATCCCAGCTACTCGGGAGGTTGAGGCA
GGAGAATCGCTTGAACCGAGGAGGCGGAGATTACAGTGAGCCAAGATCGC
GCCATTGCACTCCAGCCTGGGCGACACAGCGAGACTCCGTCTCATAAAAT
AAAATAAGGCCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGAG
AGGCCGAGGCAGGTGGATCACCTGAGGTCACGAGTTCGAGACCAGCCTGA
CCAACATAGTGAAACCCCATCTCTACTAAAAAATACAAAAATGAGCCAGG
CATGGTGGCGGGTGCCTGTCATCCCAGCTACTCGGGAGGTTGAGGCAGGA
GAATCGCTTGAACCGAGGAGGTGGAGATTGCAGTGAGCCAAGATCGCGCC
ATTGCACTCCAGCCTGGGCGACACAGCGAGACTCCGTCTCATAAAATAAA
ATAAGGCCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGAGAGG
CCGAGGCAGGTGGATCACCTGAGGTCACGAGTTCGAGACCAGCCTGACCA
ACATAGTGAAACCCCATCTCTACTAAAAAATACAAAAATGAGCCAGGCAT
GGTGGCGGGTGCCTGTCATCCCAGCTACTCGGGAGGTTGAGGCAGGAGAA
TCGCTTGAACC
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chrX 1626799
chrX:1626799
G
G
 GGGTGGAT
others(885): Show 
GGGTGGATCACCTGAGGTCATGAGTTTTGAGACCAGCCTGACCAACATAG
TGAAACCCCATCTCTACTAAAAAATACAAAAATGAGCCAGGCATGGTGGC
GGGTGCCTGTCATCCCAGCTACTCGGGAGGTTGAGGCAGGAGAATCGCTT
GAACCCAGGAGGTGGAGATTGCAGTGAGCCAAGATCGCGCCATTGCACTC
CAGCCTGGGCGACACAGCGAGACTCCGTCTCATAAAATAAAATAAGGCCA
GGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGG
GCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATAGTGA
AACCCCATCTCTACTAAAAAATACAAAAATGAGCCAGGCATGGTGGCGGG
TGCCTGTCATCCCAGCTACTCGGGAGGTTGAGGCAGGAGAATCGCTTGAA
CCGAGGAGGCGGAGATTACAGTGAGCCAAGATCGCGCCATTGCACTCCAG
CCTGGGCGACACAGCGAGACTCCGTCTCATAAAATAAAATAAGGCCAGGT
GCGGTGGCTCACGCCTGTAATCCCAGCACTTTGAGAGGCCGAGGCAGGTG
GATCACCTGAGGTCACGAGTTCGAGACCAGCCTGACCAACATAGTGAAAC
CCCATCTCTACTAAAAAATACAAAAATGAGCCAGGCATGGTGGCGGGTGC
CTGTCATCCCAGCTACTCGGGAGGTTGAGGCAGGAGAATCGCTTGAACCG
AGGAGGTGGAGATTGCAGTGAGCCAAGATCGCGCCATTGCACTCCAGCCT
GGGCGACACAGCGAGACTCCGTCTCATAAAATAAAATAAGGCCAGGTGCG
GTGGCTCACGCCTGTAATCCCAGCACTTTGAGAGGCCGAGGCA
 1 a0001c0003t0001g0070
a0001c0003t0001g0070
 1 HG01884.hp2
HG01884.hp2
 intron_variant MODIFIER c.375-885_375-884ins
others(892): Show 
c.375-885_375-884insTGAGTTTTGAGACCAGCCTGACCAACATAG
TGAAACCCCATCTCTACTAAAAAATACAAAAATGAGCCAGGCATGGTGGC
GGGTGCCTGTCATCCCAGCTACTCGGGAGGTTGAGGCAGGAGAATCGCTT
GAACCCAGGAGGTGGAGATTGCAGTGAGCCAAGATCGCGCCATTGCACTC
CAGCCTGGGCGACACAGCGAGACTCCGTCTCATAAAATAAAATAAGGCCA
GGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGG
GCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATAGTGA
AACCCCATCTCTACTAAAAAATACAAAAATGAGCCAGGCATGGTGGCGGG
TGCCTGTCATCCCAGCTACTCGGGAGGTTGAGGCAGGAGAATCGCTTGAA
CCGAGGAGGCGGAGATTACAGTGAGCCAAGATCGCGCCATTGCACTCCAG
CCTGGGCGACACAGCGAGACTCCGTCTCATAAAATAAAATAAGGCCAGGT
GCGGTGGCTCACGCCTGTAATCCCAGCACTTTGAGAGGCCGAGGCAGGTG
GATCACCTGAGGTCACGAGTTCGAGACCAGCCTGACCAACATAGTGAAAC
CCCATCTCTACTAAAAAATACAAAAATGAGCCAGGCATGGTGGCGGGTGC
CTGTCATCCCAGCTACTCGGGAGGTTGAGGCAGGAGAATCGCTTGAACCG
AGGAGGTGGAGATTGCAGTGAGCCAAGATCGCGCCATTGCACTCCAGCCT
GGGCGACACAGCGAGACTCCGTCTCATAAAATAAAATAAGGCCAGGTGCG
GTGGCTCACGCCTGTAATCCCAGCACTTTGAGAGGCCGAGGCAGGTGGAT
CACCTGAGGTCA
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chrX 1626799
chrX:1626800
G
G
 GT
GT
 1 a0012c0007t0001g0036
a0012c0007t0001g0036
 1 NA19082.hp1
NA19082.hp1
 intron_variant MODIFIER c.375-903_375-902ins
others(1): Show 
c.375-903_375-902insT
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 chrX 1626800
chrX:1626819
C
C
 T
T
 164 a0001c0001t0001g0005
a0001c0001t0001g0006
a0001c0001t0001g0008
others(161): Show 
a0001c0001t0001g0005
a0001c0001t0001g0006
a0001c0001t0001g0008
a0001c0001t0001g0014
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0019
a0001c0001t0001g0021
a0001c0001t0001g0027
a0001c0001t0001g0035
a0001c0001t0001g0037
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0053
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0061
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0068
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0079
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0086
a0001c0001t0001g0097
a0001c0001t0001g0100
a0001c0001t0001g0102
a0001c0001t0001g0103
a0001c0001t0001g0114
a0001c0001t0001g0121
a0001c0001t0001g0123
a0001c0001t0001g0128
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0174
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0206
a0001c0001t0001g0209
a0001c0001t0001g0211
a0001c0001t0001g0214
a0001c0001t0001g0215
a0001c0001t0002g0039
a0001c0001t0002g0132
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0002g0140
a0001c0001t0002g0143
a0001c0001t0002g0144
a0001c0001t0002g0145
a0001c0001t0002g0147
a0001c0001t0002g0152
a0001c0001t0002g0153
a0001c0001t0002g0161
a0001c0001t0002g0164
a0001c0001t0002g0167
a0001c0001t0002g0168
a0001c0001t0002g0170
a0001c0001t0002g0180
a0001c0001t0002g0190
a0001c0001t0002g0196
a0001c0001t0002g0200
a0001c0001t0002g0201
a0001c0001t0002g0218
a0001c0001t0003g0090
a0001c0001t0005g0165
a0001c0003t0001g0013
a0001c0003t0001g0022
a0001c0003t0001g0023
a0001c0003t0001g0038
a0001c0003t0001g0050
a0001c0003t0001g0051
a0001c0003t0001g0059
a0001c0003t0001g0062
a0001c0003t0001g0080
a0001c0003t0001g0091
a0001c0003t0001g0094
a0001c0003t0001g0107
a0001c0003t0001g0171
a0001c0003t0001g0219
a0001c0003t0002g0142
a0001c0003t0002g0155
a0001c0003t0002g0173
a0002c0002t0001g0002
a0002c0002t0001g0003
a0002c0002t0001g0009
a0002c0002t0001g0020
a0002c0002t0001g0026
a0002c0002t0001g0031
a0002c0002t0001g0042
a0002c0002t0001g0044
a0002c0002t0001g0054
a0002c0002t0001g0066
a0002c0002t0001g0069
a0002c0002t0001g0073
a0002c0002t0001g0074
a0002c0002t0001g0078
a0002c0002t0001g0085
a0002c0002t0001g0089
a0002c0002t0001g0095
a0002c0002t0001g0098
a0002c0002t0001g0099
a0002c0002t0001g0108
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0119
a0002c0002t0001g0122
a0002c0002t0001g0124
a0002c0002t0001g0125
a0002c0002t0001g0127
a0002c0002t0001g0129
a0002c0002t0001g0130
a0002c0002t0001g0151
a0002c0002t0001g0175
a0002c0002t0001g0185
a0002c0002t0001g0208
a0002c0002t0001g0210
a0002c0002t0001g0220
a0002c0002t0001g0221
a0002c0002t0001g0222
a0002c0002t0002g0096
a0002c0002t0002g0112
a0002c0002t0002g0131
a0002c0002t0002g0136
a0002c0002t0002g0146
a0002c0002t0002g0154
a0002c0002t0002g0156
a0002c0002t0002g0159
a0002c0002t0002g0162
a0002c0002t0002g0163
a0002c0002t0002g0166
a0002c0002t0002g0172
a0002c0002t0002g0178
a0002c0002t0002g0181
a0002c0002t0002g0186
a0002c0002t0002g0188
a0002c0002t0002g0191
a0002c0002t0002g0198
a0002c0002t0002g0199
a0002c0002t0002g0207
a0002c0002t0002g0213
a0002c0002t0002g0216
a0002c0006t0001g0187
a0003c0009t0001g0011
a0004c0004t0001g0169
a0006c0011t0001g0139
a0008c0013t0001g0101
a0010c0015t0002g0179
a0011c0008t0001g0034
a0013c0017t0001g0111
a0014c0018t0001g0060
 164 HG00099.hp1
HG00099.hp2
HG00323.hp1
others(161): Show 
HG00099.hp1
HG00099.hp2
HG00323.hp1
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00597.hp2
HG00639.hp1
HG00639.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp2
HG01175.hp1
HG01256.hp1
HG01257.hp1
HG01257.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01496.hp1
HG01496.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01891.hp1
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02257.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp2
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02683.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp1
HG02896.hp1
HG02922.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03195.hp1
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03486.hp1
HG03491.hp1
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03669.hp1
HG03704.hp1
HG03927.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp1
NA18942.hp2
NA18947.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18956.hp2
NA18963.hp2
NA18968.hp1
NA18968.hp2
NA18973.hp1
NA18974.hp1
NA18975.hp1
NA18975.hp2
NA18977.hp2
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18988.hp1
NA18992.hp1
NA18998.hp1
NA18998.hp2
NA18999.hp2
NA19002.hp1
NA19003.hp1
NA19003.hp2
NA19010.hp1
NA19011.hp1
NA19030.hp2
NA19057.hp1
NA19057.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19072.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19085.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.375-884C>T
c.375-884C>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 chrX 1626819
chrX:1626821
A
A
 AT
AT
 1 a0012c0007t0001g0036
a0012c0007t0001g0036
 1 NA19082.hp1
NA19082.hp1
 intron_variant MODIFIER c.375-882_375-881ins
others(1): Show 
c.375-882_375-881insT
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 chrX 1626821
chrX:1626822
G
G
 GT
GT
 164 a0001c0001t0001g0005
a0001c0001t0001g0006
a0001c0001t0001g0008
others(161): Show 
a0001c0001t0001g0005
a0001c0001t0001g0006
a0001c0001t0001g0008
a0001c0001t0001g0014
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0019
a0001c0001t0001g0021
a0001c0001t0001g0027
a0001c0001t0001g0035
a0001c0001t0001g0037
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0053
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0061
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0068
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0079
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0086
a0001c0001t0001g0097
a0001c0001t0001g0100
a0001c0001t0001g0102
a0001c0001t0001g0103
a0001c0001t0001g0114
a0001c0001t0001g0121
a0001c0001t0001g0123
a0001c0001t0001g0128
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0174
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0206
a0001c0001t0001g0209
a0001c0001t0001g0211
a0001c0001t0001g0214
a0001c0001t0001g0215
a0001c0001t0002g0039
a0001c0001t0002g0132
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0002g0140
a0001c0001t0002g0143
a0001c0001t0002g0144
a0001c0001t0002g0145
a0001c0001t0002g0147
a0001c0001t0002g0152
a0001c0001t0002g0153
a0001c0001t0002g0161
a0001c0001t0002g0164
a0001c0001t0002g0167
a0001c0001t0002g0168
a0001c0001t0002g0170
a0001c0001t0002g0180
a0001c0001t0002g0190
a0001c0001t0002g0196
a0001c0001t0002g0200
a0001c0001t0002g0201
a0001c0001t0002g0218
a0001c0001t0003g0090
a0001c0001t0005g0165
a0001c0003t0001g0013
a0001c0003t0001g0022
a0001c0003t0001g0023
a0001c0003t0001g0038
a0001c0003t0001g0050
a0001c0003t0001g0051
a0001c0003t0001g0059
a0001c0003t0001g0062
a0001c0003t0001g0080
a0001c0003t0001g0091
a0001c0003t0001g0094
a0001c0003t0001g0107
a0001c0003t0001g0171
a0001c0003t0001g0219
a0001c0003t0002g0142
a0001c0003t0002g0155
a0001c0003t0002g0173
a0002c0002t0001g0002
a0002c0002t0001g0003
a0002c0002t0001g0009
a0002c0002t0001g0020
a0002c0002t0001g0026
a0002c0002t0001g0031
a0002c0002t0001g0042
a0002c0002t0001g0044
a0002c0002t0001g0054
a0002c0002t0001g0066
a0002c0002t0001g0069
a0002c0002t0001g0073
a0002c0002t0001g0074
a0002c0002t0001g0078
a0002c0002t0001g0085
a0002c0002t0001g0089
a0002c0002t0001g0095
a0002c0002t0001g0098
a0002c0002t0001g0099
a0002c0002t0001g0108
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0119
a0002c0002t0001g0122
a0002c0002t0001g0124
a0002c0002t0001g0125
a0002c0002t0001g0127
a0002c0002t0001g0129
a0002c0002t0001g0130
a0002c0002t0001g0151
a0002c0002t0001g0175
a0002c0002t0001g0185
a0002c0002t0001g0208
a0002c0002t0001g0210
a0002c0002t0001g0220
a0002c0002t0001g0221
a0002c0002t0001g0222
a0002c0002t0002g0096
a0002c0002t0002g0112
a0002c0002t0002g0131
a0002c0002t0002g0136
a0002c0002t0002g0146
a0002c0002t0002g0154
a0002c0002t0002g0156
a0002c0002t0002g0159
a0002c0002t0002g0162
a0002c0002t0002g0163
a0002c0002t0002g0166
a0002c0002t0002g0172
a0002c0002t0002g0178
a0002c0002t0002g0181
a0002c0002t0002g0186
a0002c0002t0002g0188
a0002c0002t0002g0191
a0002c0002t0002g0198
a0002c0002t0002g0199
a0002c0002t0002g0207
a0002c0002t0002g0213
a0002c0002t0002g0216
a0002c0006t0001g0187
a0003c0009t0001g0011
a0004c0004t0001g0169
a0006c0011t0001g0139
a0008c0013t0001g0101
a0010c0015t0002g0179
a0011c0008t0001g0034
a0013c0017t0001g0111
a0014c0018t0001g0060
 164 HG00099.hp1
HG00099.hp2
HG00323.hp1
others(161): Show 
HG00099.hp1
HG00099.hp2
HG00323.hp1
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00597.hp2
HG00639.hp1
HG00639.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp2
HG01175.hp1
HG01256.hp1
HG01257.hp1
HG01257.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01496.hp1
HG01496.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01891.hp1
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02257.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp2
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02683.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp1
HG02896.hp1
HG02922.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03195.hp1
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03486.hp1
HG03491.hp1
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03669.hp1
HG03704.hp1
HG03927.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp1
NA18942.hp2
NA18947.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18956.hp2
NA18963.hp2
NA18968.hp1
NA18968.hp2
NA18973.hp1
NA18974.hp1
NA18975.hp1
NA18975.hp2
NA18977.hp2
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18988.hp1
NA18992.hp1
NA18998.hp1
NA18998.hp2
NA18999.hp2
NA19002.hp1
NA19003.hp1
NA19003.hp2
NA19010.hp1
NA19011.hp1
NA19030.hp2
NA19057.hp1
NA19057.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19072.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19085.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.375-879dupT
c.375-879dupT
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chrX 1626822
chrX:1626825
C
C
 CT
CT
 1 a0012c0007t0001g0036
a0012c0007t0001g0036
 1 NA19082.hp1
NA19082.hp1
 intron_variant MODIFIER c.375-878_375-877ins
others(1): Show 
c.375-878_375-877insT
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 chrX 1626825
chrX:1626825
C
C
 T
T
 164 a0001c0001t0001g0005
a0001c0001t0001g0006
a0001c0001t0001g0008
others(161): Show 
a0001c0001t0001g0005
a0001c0001t0001g0006
a0001c0001t0001g0008
a0001c0001t0001g0014
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0019
a0001c0001t0001g0021
a0001c0001t0001g0027
a0001c0001t0001g0035
a0001c0001t0001g0037
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0053
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0061
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0068
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0079
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0086
a0001c0001t0001g0097
a0001c0001t0001g0100
a0001c0001t0001g0102
a0001c0001t0001g0103
a0001c0001t0001g0114
a0001c0001t0001g0121
a0001c0001t0001g0123
a0001c0001t0001g0128
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0174
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0206
a0001c0001t0001g0209
a0001c0001t0001g0211
a0001c0001t0001g0214
a0001c0001t0001g0215
a0001c0001t0002g0039
a0001c0001t0002g0132
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0002g0140
a0001c0001t0002g0143
a0001c0001t0002g0144
a0001c0001t0002g0145
a0001c0001t0002g0147
a0001c0001t0002g0152
a0001c0001t0002g0153
a0001c0001t0002g0161
a0001c0001t0002g0164
a0001c0001t0002g0167
a0001c0001t0002g0168
a0001c0001t0002g0170
a0001c0001t0002g0180
a0001c0001t0002g0190
a0001c0001t0002g0196
a0001c0001t0002g0200
a0001c0001t0002g0201
a0001c0001t0002g0218
a0001c0001t0003g0090
a0001c0001t0005g0165
a0001c0003t0001g0013
a0001c0003t0001g0022
a0001c0003t0001g0023
a0001c0003t0001g0038
a0001c0003t0001g0050
a0001c0003t0001g0051
a0001c0003t0001g0059
a0001c0003t0001g0062
a0001c0003t0001g0080
a0001c0003t0001g0091
a0001c0003t0001g0094
a0001c0003t0001g0107
a0001c0003t0001g0171
a0001c0003t0001g0219
a0001c0003t0002g0142
a0001c0003t0002g0155
a0001c0003t0002g0173
a0002c0002t0001g0002
a0002c0002t0001g0003
a0002c0002t0001g0009
a0002c0002t0001g0020
a0002c0002t0001g0026
a0002c0002t0001g0031
a0002c0002t0001g0042
a0002c0002t0001g0044
a0002c0002t0001g0054
a0002c0002t0001g0066
a0002c0002t0001g0069
a0002c0002t0001g0073
a0002c0002t0001g0074
a0002c0002t0001g0078
a0002c0002t0001g0085
a0002c0002t0001g0089
a0002c0002t0001g0095
a0002c0002t0001g0098
a0002c0002t0001g0099
a0002c0002t0001g0108
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0119
a0002c0002t0001g0122
a0002c0002t0001g0124
a0002c0002t0001g0125
a0002c0002t0001g0127
a0002c0002t0001g0129
a0002c0002t0001g0130
a0002c0002t0001g0151
a0002c0002t0001g0175
a0002c0002t0001g0185
a0002c0002t0001g0208
a0002c0002t0001g0210
a0002c0002t0001g0220
a0002c0002t0001g0221
a0002c0002t0001g0222
a0002c0002t0002g0096
a0002c0002t0002g0112
a0002c0002t0002g0131
a0002c0002t0002g0136
a0002c0002t0002g0146
a0002c0002t0002g0154
a0002c0002t0002g0156
a0002c0002t0002g0159
a0002c0002t0002g0162
a0002c0002t0002g0163
a0002c0002t0002g0166
a0002c0002t0002g0172
a0002c0002t0002g0178
a0002c0002t0002g0181
a0002c0002t0002g0186
a0002c0002t0002g0188
a0002c0002t0002g0191
a0002c0002t0002g0198
a0002c0002t0002g0199
a0002c0002t0002g0207
a0002c0002t0002g0213
a0002c0002t0002g0216
a0002c0006t0001g0187
a0003c0009t0001g0011
a0004c0004t0001g0169
a0006c0011t0001g0139
a0008c0013t0001g0101
a0010c0015t0002g0179
a0011c0008t0001g0034
a0013c0017t0001g0111
a0014c0018t0001g0060
 164 HG00099.hp1
HG00099.hp2
HG00323.hp1
others(161): Show 
HG00099.hp1
HG00099.hp2
HG00323.hp1
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00597.hp2
HG00639.hp1
HG00639.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp2
HG01175.hp1
HG01256.hp1
HG01257.hp1
HG01257.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01496.hp1
HG01496.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01891.hp1
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02257.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp2
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02683.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp1
HG02896.hp1
HG02922.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03195.hp1
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03486.hp1
HG03491.hp1
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03669.hp1
HG03704.hp1
HG03927.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp1
NA18942.hp2
NA18947.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18956.hp2
NA18963.hp2
NA18968.hp1
NA18968.hp2
NA18973.hp1
NA18974.hp1
NA18975.hp1
NA18975.hp2
NA18977.hp2
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18988.hp1
NA18992.hp1
NA18998.hp1
NA18998.hp2
NA18999.hp2
NA19002.hp1
NA19003.hp1
NA19003.hp2
NA19010.hp1
NA19011.hp1
NA19030.hp2
NA19057.hp1
NA19057.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19072.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19085.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.375-878C>T
c.375-878C>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 chrX 1626825
chrX:1626881
G
G
 GAGCCAGG
others(290): Show 
GAGCCAGGCATGGTGGCGGGTGCCTGTCATCCCAGCTACTCGGGAGGTTG
AGGCAGGAGAATCGCTTGAACCGAGGAGGTGGAGATTGCAGTGAGCCAAG
ATCGCGCCATTGCACTCCAGCCTGGGCGACACAGCGAGACTCCGTCTCAT
AAAATAAAATAAGGCCAGGTGTGGTGGCTCACGCCTGTAATCCCAGCACT
TTGAGAGGCCGAGGCAGGTGGATCACCTGAGGTCACGAGTTCGAGACCAG
CCTGACCAACATAGTGAAACCCCATCTCTACTAAAAAATACAAAAATT
 1 a0009c0014t0002g0075
a0009c0014t0002g0075
 1 HG02683.hp2
HG02683.hp2
 intron_variant MODIFIER c.375-652_375-651ins
others(297): Show 
c.375-652_375-651insTGGTGGCTCACGCCTGTAATCCCAGCACTT
TGAGAGGCCGAGGCAGGTGGATCACCTGAGGTCACGAGTTCGAGACCAGC
CTGACCAACATAGTGAAACCCCATCTCTACTAAAAAATACAAAAATTAGC
CAGGCATGGTGGCGGGTGCCTGTCATCCCAGCTACTCGGGAGGTTGAGGC
AGGAGAATCGCTTGAACCGAGGAGGTGGAGATTGCAGTGAGCCAAGATCG
CGCCATTGCACTCCAGCCTGGGCGACACAGCGAGACTCCGTCTCATAAAA
TAAAATAAGGCCAGGTG
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chrX 1626881
chrX:1626898
G
G
 A
A
 1 a0001c0001t0001g0056
a0001c0001t0001g0056
 1 HG00323.hp1
HG00323.hp1
 intron_variant MODIFIER c.375-805G>A
c.375-805G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 chrX 1626898
chrX:1626908
C
C
 CA
CA
 1 a0012c0007t0001g0036
a0012c0007t0001g0036
 1 NA19082.hp1
NA19082.hp1
 intron_variant MODIFIER c.375-794dupA
c.375-794dupA
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chrX 1626908
chrX:1626953
G
G
 C
C
 165 a0001c0001t0001g0005
a0001c0001t0001g0006
a0001c0001t0001g0008
others(162): Show 
a0001c0001t0001g0005
a0001c0001t0001g0006
a0001c0001t0001g0008
a0001c0001t0001g0014
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0019
a0001c0001t0001g0021
a0001c0001t0001g0027
a0001c0001t0001g0035
a0001c0001t0001g0037
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0053
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0061
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0068
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0079
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0086
a0001c0001t0001g0097
a0001c0001t0001g0100
a0001c0001t0001g0102
a0001c0001t0001g0103
a0001c0001t0001g0114
a0001c0001t0001g0118
a0001c0001t0001g0121
a0001c0001t0001g0123
a0001c0001t0001g0128
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0174
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0206
a0001c0001t0001g0209
a0001c0001t0001g0211
a0001c0001t0001g0214
a0001c0001t0001g0215
a0001c0001t0002g0039
a0001c0001t0002g0132
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0002g0140
a0001c0001t0002g0143
a0001c0001t0002g0144
a0001c0001t0002g0145
a0001c0001t0002g0147
a0001c0001t0002g0152
a0001c0001t0002g0153
a0001c0001t0002g0161
a0001c0001t0002g0164
a0001c0001t0002g0167
a0001c0001t0002g0168
a0001c0001t0002g0170
a0001c0001t0002g0180
a0001c0001t0002g0190
a0001c0001t0002g0196
a0001c0001t0002g0200
a0001c0001t0002g0201
a0001c0001t0002g0218
a0001c0001t0003g0090
a0001c0001t0005g0165
a0001c0003t0001g0013
a0001c0003t0001g0022
a0001c0003t0001g0023
a0001c0003t0001g0038
a0001c0003t0001g0050
a0001c0003t0001g0051
a0001c0003t0001g0059
a0001c0003t0001g0062
a0001c0003t0001g0080
a0001c0003t0001g0091
a0001c0003t0001g0094
a0001c0003t0001g0107
a0001c0003t0001g0171
a0001c0003t0001g0219
a0001c0003t0002g0142
a0001c0003t0002g0155
a0001c0003t0002g0173
a0002c0002t0001g0002
a0002c0002t0001g0003
a0002c0002t0001g0009
a0002c0002t0001g0020
a0002c0002t0001g0026
a0002c0002t0001g0031
a0002c0002t0001g0042
a0002c0002t0001g0044
a0002c0002t0001g0054
a0002c0002t0001g0066
a0002c0002t0001g0069
a0002c0002t0001g0073
a0002c0002t0001g0074
a0002c0002t0001g0078
a0002c0002t0001g0085
a0002c0002t0001g0089
a0002c0002t0001g0095
a0002c0002t0001g0098
a0002c0002t0001g0099
a0002c0002t0001g0108
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0119
a0002c0002t0001g0122
a0002c0002t0001g0124
a0002c0002t0001g0125
a0002c0002t0001g0127
a0002c0002t0001g0129
a0002c0002t0001g0130
a0002c0002t0001g0151
a0002c0002t0001g0175
a0002c0002t0001g0185
a0002c0002t0001g0208
a0002c0002t0001g0210
a0002c0002t0001g0220
a0002c0002t0001g0221
a0002c0002t0001g0222
a0002c0002t0002g0096
a0002c0002t0002g0112
a0002c0002t0002g0131
a0002c0002t0002g0136
a0002c0002t0002g0146
a0002c0002t0002g0154
a0002c0002t0002g0156
a0002c0002t0002g0159
a0002c0002t0002g0162
a0002c0002t0002g0163
a0002c0002t0002g0166
a0002c0002t0002g0172
a0002c0002t0002g0178
a0002c0002t0002g0181
a0002c0002t0002g0186
a0002c0002t0002g0188
a0002c0002t0002g0191
a0002c0002t0002g0198
a0002c0002t0002g0199
a0002c0002t0002g0207
a0002c0002t0002g0213
a0002c0002t0002g0216
a0002c0006t0001g0187
a0003c0009t0001g0011
a0004c0004t0001g0169
a0006c0011t0001g0139
a0008c0013t0001g0101
a0010c0015t0002g0179
a0011c0008t0001g0034
a0013c0017t0001g0111
a0014c0018t0001g0060
 165 HG00099.hp1
HG00099.hp2
HG00323.hp1
others(162): Show 
HG00099.hp1
HG00099.hp2
HG00323.hp1
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00597.hp2
HG00639.hp1
HG00639.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp2
HG01175.hp1
HG01256.hp1
HG01257.hp1
HG01257.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01496.hp1
HG01496.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01891.hp1
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02257.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp2
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02683.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp1
HG02896.hp1
HG02922.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03195.hp1
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03486.hp1
HG03491.hp1
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03669.hp1
HG03704.hp1
HG03927.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp1
NA18942.hp2
NA18947.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18956.hp2
NA18963.hp2
NA18968.hp1
NA18968.hp2
NA18973.hp1
NA18974.hp1
NA18975.hp1
NA18975.hp2
NA18977.hp2
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18988.hp1
NA18992.hp1
NA18998.hp1
NA18998.hp2
NA18999.hp2
NA19002.hp1
NA19003.hp1
NA19003.hp2
NA19010.hp1
NA19011.hp1
NA19030.hp2
NA19057.hp1
NA19057.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19072.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19085.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.375-750G>C
c.375-750G>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 chrX 1626953
chrX:1626960
T
T
 C
C
 1 a0006c0011t0001g0139
a0006c0011t0001g0139
 1 HG02559.hp2
HG02559.hp2
 intron_variant MODIFIER c.375-743T>C
c.375-743T>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 chrX 1626960
chrX:1626985
C
C
 CGCCATTG
others(290): Show 
CGCCATTGCACTCCAGCCTGGGCGACACAGCGAGACTCCGTCTCATAAAA
TAAAATAAGGCCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGG
GAGGCCAAGGCGGGCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTG
ACCAACATGATGAAACCCCATCTGTACTAAAAAGTACAAAAATTAGCCAG
GCACGGTGGCAGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGTAGG
AAAATCGCTTGAACCCGGGAGGCGGAGATTACAGTGAGCCAAGATCGT
 1 a0001c0003t0002g0150
a0001c0003t0002g0150
 1 NA19010.hp2
NA19010.hp2
 intron_variant MODIFIER c.375-679_375-383dup
others(297): Show 
c.375-679_375-383dupGTCTCATAAAATAAAATAAGGCCAGGTGCG
GTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCAGAT
CACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGATGAAACCCC
ATCTGTACTAAAAAGTACAAAAATTAGCCAGGCACGGTGGCAGGTGCCTG
TAATCCCAGCTACTCGGGAGGCTGAGGTAGGAAAATCGCTTGAACCCGGG
AGGCGGAGATTACAGTGAGCCAAGATCGTGCCATTGCACTCCAGCCTGGG
CGACACAGCGAGACTCC
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chrX 1626985
chrX:1626989
A
A
 AT
AT
 1 a0012c0007t0001g0036
a0012c0007t0001g0036
 1 NA19082.hp1
NA19082.hp1
 intron_variant MODIFIER c.375-712dupT
c.375-712dupT
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chrX 1626989
chrX:1627018
G
G
 GA
GA
 1 a0012c0007t0001g0036
a0012c0007t0001g0036
 1 NA19082.hp1
NA19082.hp1
 intron_variant MODIFIER c.375-684dupA
c.375-684dupA
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chrX 1627018
chrX:1627053
G
G
 A
A
 1 a0001c0003t0001g0115
a0001c0003t0001g0115
 1 NA18941.hp2
NA18941.hp2
 intron_variant MODIFIER c.375-650G>A
c.375-650G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 chrX 1627053
chrX:1627071
TC
TC
 T
T
 1 a0012c0007t0001g0036
a0012c0007t0001g0036
 1 NA19082.hp1
NA19082.hp1
 intron_variant MODIFIER c.375-629delC
c.375-629delC
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chrX 1627071
chrX:1627080
T
T
 C
C
 1 a0002c0002t0001g0129
a0002c0002t0001g0129
 1 HG03239.hp1
HG03239.hp1
 intron_variant MODIFIER c.375-623T>C
c.375-623T>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 chrX 1627080
chrX:1627100
A
A
 G
G
 2 a0001c0003t0001g0070
a0002c0002t0002g0160
a0001c0003t0001g0070
a0002c0002t0002g0160
 2 HG01884.hp2
HG03516.hp2
HG01884.hp2
HG03516.hp2
 intron_variant MODIFIER c.375-603A>G
c.375-603A>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 chrX 1627100
chrX:1627104
C
C
 CA
CA
 1 a0001c0003t0001g0091
a0001c0003t0001g0091
 1 HG00597.hp2
HG00597.hp2
 intron_variant MODIFIER c.375-598dupA
c.375-598dupA
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chrX 1627104
chrX:1627162
TA
TA
 T
T
 1 a0012c0007t0001g0036
a0012c0007t0001g0036
 1 NA19082.hp1
NA19082.hp1
 intron_variant MODIFIER c.375-536delA
c.375-536delA
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chrX 1627162
chrX:1627208
C
C
 A
A
 1 a0012c0007t0001g0036
a0012c0007t0001g0036
 1 NA19082.hp1
NA19082.hp1
 intron_variant MODIFIER c.375-495C>A
c.375-495C>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 chrX 1627208
chrX:1627209
C
C
 G
G
 3 a0001c0003t0001g0092
a0001c0003t0001g0093
a0002c0002t0001g0055
a0001c0003t0001g0092
a0001c0003t0001g0093
a0002c0002t0001g0055
 3 NA18942.hp1
NA18986.hp2
NA18992.hp2
NA18942.hp1
NA18986.hp2
NA18992.hp2
 intron_variant MODIFIER c.375-494C>G
c.375-494C>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 chrX 1627209
chrX:1627218
C
C
 T
T
 5 a0001c0001t0001g0068
a0001c0001t0005g0165
a0001c0003t0001g0023
others(2): Show 
a0001c0001t0001g0068
a0001c0001t0005g0165
a0001c0003t0001g0023
a0002c0002t0001g0031
a0013c0017t0001g0111
 5 HG01175.hp1
HG01346.hp2
HG02004.hp1
others(2): Show 
HG01175.hp1
HG01346.hp2
HG02004.hp1
HG02273.hp1
HG02523.hp1
 intron_variant MODIFIER c.375-485C>T
c.375-485C>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 chrX 1627218
chrX:1627228
AG
AG
 A
A
 1 a0012c0007t0001g0036
a0012c0007t0001g0036
 1 NA19082.hp1
NA19082.hp1
 intron_variant MODIFIER c.375-473delG
c.375-473delG
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chrX 1627228
chrX:1627283
GC
GC
 G
G
 1 a0002c0002t0001g0108
a0002c0002t0001g0108
 1 NA19080.hp2
NA19080.hp2
 intron_variant MODIFIER c.375-418delC
c.375-418delC
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chrX 1627283
chrX:1627321
A
A
 G
G
 100 a0001c0001t0001g0001
a0001c0001t0001g0006
a0001c0001t0001g0008
others(97): Show 
a0001c0001t0001g0001
a0001c0001t0001g0006
a0001c0001t0001g0008
a0001c0001t0001g0014
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0019
a0001c0001t0001g0021
a0001c0001t0001g0037
a0001c0001t0001g0043
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0053
a0001c0001t0001g0056
a0001c0001t0001g0061
a0001c0001t0001g0063
a0001c0001t0001g0068
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0076
a0001c0001t0001g0079
a0001c0001t0001g0082
a0001c0001t0001g0084
a0001c0001t0001g0086
a0001c0001t0001g0097
a0001c0001t0001g0100
a0001c0001t0001g0102
a0001c0001t0001g0103
a0001c0001t0001g0114
a0001c0001t0001g0121
a0001c0001t0001g0123
a0001c0001t0001g0128
a0001c0001t0001g0158
a0001c0001t0001g0174
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0211
a0001c0001t0001g0215
a0001c0001t0002g0039
a0001c0001t0002g0143
a0001c0001t0002g0147
a0001c0001t0002g0152
a0001c0001t0002g0167
a0001c0001t0002g0168
a0001c0001t0002g0170
a0001c0001t0002g0180
a0001c0001t0002g0196
a0001c0001t0002g0200
a0001c0001t0002g0218
a0001c0001t0003g0090
a0001c0001t0005g0165
a0001c0003t0001g0013
a0001c0003t0001g0022
a0001c0003t0001g0023
a0001c0003t0001g0038
a0001c0003t0001g0051
a0001c0003t0001g0062
a0001c0003t0001g0070
a0001c0003t0001g0080
a0001c0003t0001g0171
a0001c0003t0001g0219
a0001c0003t0002g0150
a0001c0003t0002g0155
a0001c0003t0002g0173
a0002c0002t0001g0009
a0002c0002t0001g0020
a0002c0002t0001g0031
a0002c0002t0001g0042
a0002c0002t0001g0044
a0002c0002t0001g0054
a0002c0002t0001g0074
a0002c0002t0001g0078
a0002c0002t0001g0085
a0002c0002t0001g0089
a0002c0002t0001g0098
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0119
a0002c0002t0001g0124
a0002c0002t0001g0189
a0002c0002t0001g0220
a0002c0002t0002g0136
a0002c0002t0002g0154
a0002c0002t0002g0160
a0002c0002t0002g0178
a0002c0002t0002g0181
a0002c0002t0002g0191
a0002c0002t0002g0198
a0002c0002t0002g0199
a0002c0002t0002g0216
a0002c0006t0001g0187
a0003c0009t0001g0011
a0004c0004t0001g0169
a0006c0011t0001g0139
a0008c0013t0001g0101
a0009c0014t0002g0075
a0011c0008t0001g0034
a0013c0017t0001g0111
a0014c0018t0001g0060
 101 HG00099.hp2
HG00323.hp1
HG00423.hp2
others(98): Show 
HG00099.hp2
HG00323.hp1
HG00423.hp2
HG00544.hp1
HG00544.hp2
HG00639.hp1
HG00639.hp2
HG00733.hp1
HG00735.hp1
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01071.hp1
HG01071.hp2
HG01081.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp2
HG01175.hp1
HG01256.hp1
HG01257.hp1
HG01257.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp2
HG02004.hp1
HG02080.hp2
HG02148.hp1
HG02165.hp1
HG02273.hp1
HG02280.hp1
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02683.hp2
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02922.hp2
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03195.hp1
HG03195.hp2
HG03453.hp2
HG03486.hp1
HG03516.hp2
HG03540.hp1
HG03704.hp1
HG03927.hp1
HG06807.hp1
NA18906.hp1
NA18939.hp1
NA18942.hp2
NA18947.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp2
NA18954.hp1
NA18955.hp1
NA18956.hp2
NA18963.hp2
NA18974.hp1
NA18975.hp2
NA18977.hp2
NA18988.hp1
NA18998.hp1
NA18998.hp2
NA19002.hp1
NA19010.hp1
NA19010.hp2
NA19030.hp2
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19074.hp2
NA19077.hp1
NA19080.hp1
NA19081.hp2
NA19085.hp1
NA19240.hp1
NA20129.hp1
NA20300.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.375-382A>G
c.375-382A>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 chrX 1627321
chrX:1627326
C
C
 A
A
 96 a0001c0001t0001g0006
a0001c0001t0001g0008
a0001c0001t0001g0016
others(93): Show 
a0001c0001t0001g0006
a0001c0001t0001g0008
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0019
a0001c0001t0001g0021
a0001c0001t0001g0037
a0001c0001t0001g0043
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0053
a0001c0001t0001g0056
a0001c0001t0001g0061
a0001c0001t0001g0063
a0001c0001t0001g0068
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0076
a0001c0001t0001g0079
a0001c0001t0001g0082
a0001c0001t0001g0084
a0001c0001t0001g0086
a0001c0001t0001g0097
a0001c0001t0001g0100
a0001c0001t0001g0102
a0001c0001t0001g0103
a0001c0001t0001g0114
a0001c0001t0001g0121
a0001c0001t0001g0123
a0001c0001t0001g0128
a0001c0001t0001g0158
a0001c0001t0001g0174
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0211
a0001c0001t0001g0215
a0001c0001t0002g0039
a0001c0001t0002g0143
a0001c0001t0002g0147
a0001c0001t0002g0152
a0001c0001t0002g0167
a0001c0001t0002g0168
a0001c0001t0002g0170
a0001c0001t0002g0180
a0001c0001t0002g0196
a0001c0001t0002g0200
a0001c0001t0002g0218
a0001c0001t0003g0090
a0001c0001t0005g0165
a0001c0003t0001g0013
a0001c0003t0001g0023
a0001c0003t0001g0038
a0001c0003t0001g0051
a0001c0003t0001g0062
a0001c0003t0001g0070
a0001c0003t0001g0080
a0001c0003t0001g0171
a0001c0003t0001g0219
a0001c0003t0002g0150
a0001c0003t0002g0155
a0001c0003t0002g0173
a0002c0002t0001g0009
a0002c0002t0001g0020
a0002c0002t0001g0031
a0002c0002t0001g0042
a0002c0002t0001g0044
a0002c0002t0001g0054
a0002c0002t0001g0074
a0002c0002t0001g0078
a0002c0002t0001g0085
a0002c0002t0001g0089
a0002c0002t0001g0098
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0119
a0002c0002t0001g0124
a0002c0002t0001g0189
a0002c0002t0001g0220
a0002c0002t0002g0136
a0002c0002t0002g0154
a0002c0002t0002g0160
a0002c0002t0002g0178
a0002c0002t0002g0181
a0002c0002t0002g0191
a0002c0002t0002g0198
a0002c0002t0002g0199
a0002c0002t0002g0216
a0002c0006t0001g0187
a0003c0009t0001g0011
a0004c0004t0001g0169
a0008c0013t0001g0101
a0009c0014t0002g0075
a0011c0008t0001g0034
a0013c0017t0001g0111
a0014c0018t0001g0060
 96 HG00099.hp2
HG00323.hp1
HG00423.hp2
others(93): Show 
HG00099.hp2
HG00323.hp1
HG00423.hp2
HG00544.hp1
HG00544.hp2
HG00639.hp1
HG00639.hp2
HG00733.hp1
HG00735.hp1
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01071.hp1
HG01071.hp2
HG01081.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp2
HG01175.hp1
HG01256.hp1
HG01257.hp1
HG01257.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp2
HG02004.hp1
HG02080.hp2
HG02148.hp1
HG02165.hp1
HG02273.hp1
HG02280.hp1
HG02523.hp1
HG02523.hp2
HG02683.hp2
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02922.hp2
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03195.hp1
HG03195.hp2
HG03453.hp2
HG03486.hp1
HG03516.hp2
HG03540.hp1
HG03704.hp1
HG03927.hp1
NA18939.hp1
NA18942.hp2
NA18947.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp2
NA18954.hp1
NA18955.hp1
NA18956.hp2
NA18963.hp2
NA18974.hp1
NA18975.hp2
NA18977.hp2
NA18988.hp1
NA18998.hp1
NA18998.hp2
NA19002.hp1
NA19010.hp1
NA19010.hp2
NA19030.hp2
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19074.hp2
NA19077.hp1
NA19080.hp1
NA19081.hp2
NA19085.hp1
NA20129.hp1
NA20300.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.375-377C>A
c.375-377C>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 chrX 1627326
chrX:1627351
G
G
 C
C
 23 a0001c0001t0001g0017
a0001c0001t0001g0019
a0001c0001t0001g0021
others(20): Show 
a0001c0001t0001g0017
a0001c0001t0001g0019
a0001c0001t0001g0021
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0056
a0001c0001t0001g0128
a0001c0001t0001g0138
a0001c0001t0002g0039
a0001c0001t0002g0147
a0001c0001t0002g0167
a0001c0001t0002g0168
a0001c0001t0002g0170
a0001c0003t0001g0051
a0001c0003t0001g0171
a0002c0002t0001g0020
a0002c0002t0001g0089
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0189
a0002c0002t0001g0220
a0011c0008t0001g0034
 23 HG00323.hp1
HG00639.hp1
HG00733.hp1
others(20): Show 
HG00323.hp1
HG00639.hp1
HG00733.hp1
HG00741.hp2
HG01070.hp1
HG01071.hp1
HG01516.hp1
HG01517.hp1
HG01975.hp2
HG02165.hp1
HG02280.hp1
HG02451.hp1
HG02523.hp2
HG02886.hp2
HG03195.hp1
NA18954.hp1
NA18963.hp2
NA18975.hp2
NA18998.hp1
NA19077.hp1
NA19080.hp1
NA20300.hp1
NA21309.hp2
 intron_variant MODIFIER c.375-352G>C
c.375-352G>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 chrX 1627351
chrX:1627354
G
G
 A
A
 1 a0009c0014t0002g0075
a0009c0014t0002g0075
 1 HG02683.hp2
HG02683.hp2
 intron_variant MODIFIER c.375-349G>A
c.375-349G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 chrX 1627354
chrX:1627360
A
A
 G
G
 64 a0001c0001t0001g0006
a0001c0001t0001g0016
a0001c0001t0001g0037
others(61): Show 
a0001c0001t0001g0006
a0001c0001t0001g0016
a0001c0001t0001g0037
a0001c0001t0001g0043
a0001c0001t0001g0053
a0001c0001t0001g0061
a0001c0001t0001g0063
a0001c0001t0001g0068
a0001c0001t0001g0076
a0001c0001t0001g0079
a0001c0001t0001g0082
a0001c0001t0001g0084
a0001c0001t0001g0086
a0001c0001t0001g0097
a0001c0001t0001g0100
a0001c0001t0001g0102
a0001c0001t0001g0103
a0001c0001t0001g0114
a0001c0001t0001g0121
a0001c0001t0001g0174
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0002g0143
a0001c0001t0002g0152
a0001c0001t0002g0180
a0001c0001t0002g0196
a0001c0001t0002g0200
a0001c0001t0002g0218
a0001c0001t0005g0165
a0001c0003t0001g0013
a0001c0003t0001g0023
a0001c0003t0001g0038
a0001c0003t0001g0062
a0001c0003t0001g0070
a0001c0003t0001g0080
a0001c0003t0001g0219
a0001c0003t0002g0150
a0001c0003t0002g0155
a0001c0003t0002g0173
a0002c0002t0001g0031
a0002c0002t0001g0042
a0002c0002t0001g0044
a0002c0002t0001g0054
a0002c0002t0001g0074
a0002c0002t0001g0078
a0002c0002t0001g0085
a0002c0002t0001g0098
a0002c0002t0001g0119
a0002c0002t0001g0124
a0002c0002t0002g0136
a0002c0002t0002g0154
a0002c0002t0002g0160
a0002c0002t0002g0178
a0002c0002t0002g0181
a0002c0002t0002g0191
a0002c0002t0002g0198
a0002c0002t0002g0199
a0002c0002t0002g0216
a0002c0006t0001g0187
a0004c0004t0001g0169
a0008c0013t0001g0101
a0009c0014t0002g0075
a0013c0017t0001g0111
a0014c0018t0001g0060
 64 HG00099.hp2
HG00423.hp2
HG00544.hp1
others(61): Show 
HG00099.hp2
HG00423.hp2
HG00544.hp1
HG00544.hp2
HG00639.hp2
HG00735.hp1
HG00741.hp1
HG01071.hp2
HG01081.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp2
HG01175.hp1
HG01256.hp1
HG01257.hp1
HG01257.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01516.hp2
HG01517.hp2
HG01884.hp2
HG01975.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp2
HG02004.hp1
HG02080.hp2
HG02148.hp1
HG02273.hp1
HG02523.hp1
HG02683.hp2
HG02922.hp2
HG02976.hp2
HG03041.hp2
HG03486.hp1
HG03516.hp2
HG03540.hp1
HG03704.hp1
HG03927.hp1
NA18939.hp1
NA18942.hp2
NA18947.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp2
NA18955.hp1
NA18956.hp2
NA18974.hp1
NA18977.hp2
NA18988.hp1
NA18998.hp2
NA19002.hp1
NA19010.hp1
NA19010.hp2
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19074.hp2
NA19081.hp2
NA19085.hp1
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.375-343A>G
c.375-343A>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 chrX 1627360
chrX:1627367
A
A
 AC
AC
 1 a0001c0003t0002g0182
a0001c0003t0002g0182
 1 NA18985.hp1
NA18985.hp1
 intron_variant MODIFIER c.375-332dupC
c.375-332dupC
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chrX 1627367
chrX:1627376
CT
CT
 C
C
 1 a0012c0007t0001g0036
a0012c0007t0001g0036
 1 NA19082.hp1
NA19082.hp1
 intron_variant MODIFIER c.375-324delT
c.375-324delT
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chrX 1627376
chrX:1627384
G
G
 A
A
 1 a0009c0014t0002g0075
a0009c0014t0002g0075
 1 HG02683.hp2
HG02683.hp2
 intron_variant MODIFIER c.375-319G>A
c.375-319G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 chrX 1627384
chrX:1627398
G
G
 T
T
 1 a0012c0007t0001g0036
a0012c0007t0001g0036
 1 NA19082.hp1
NA19082.hp1
 intron_variant MODIFIER c.375-305G>T
c.375-305G>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 chrX 1627398
chrX:1627452
C
C
 CA
CA
 1 a0012c0007t0001g0036
a0012c0007t0001g0036
 1 NA19082.hp1
NA19082.hp1
 intron_variant MODIFIER c.375-251_375-250ins
others(1): Show 
c.375-251_375-250insA
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 chrX 1627452
chrX:1627494
G
G
 A
A
 2 a0001c0003t0001g0070
a0002c0002t0002g0160
a0001c0003t0001g0070
a0002c0002t0002g0160
 2 HG01884.hp2
HG03516.hp2
HG01884.hp2
HG03516.hp2
 intron_variant MODIFIER c.375-209G>A
c.375-209G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 chrX 1627494
chrX:1627502
T
T
 TC
TC
 1 a0001c0003t0001g0091
a0001c0003t0001g0091
 1 HG00597.hp2
HG00597.hp2
 intron_variant MODIFIER c.375-198dupC
c.375-198dupC
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chrX 1627502
chrX:1627513
C
C
 CG
CG
 1 a0001c0003t0001g0091
a0001c0003t0001g0091
 1 HG00597.hp2
HG00597.hp2
 intron_variant MODIFIER c.375-187dupG
c.375-187dupG
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chrX 1627513
chrX:1627536
G
G
 C
C
 6 a0001c0001t0001g0037
a0001c0001t0001g0053
a0001c0001t0001g0063
others(3): Show 
a0001c0001t0001g0037
a0001c0001t0001g0053
a0001c0001t0001g0063
a0001c0001t0001g0082
a0001c0001t0002g0180
a0002c0002t0002g0198
 6 HG01081.hp2
HG01123.hp2
HG01257.hp1
others(3): Show 
HG01081.hp2
HG01123.hp2
HG01257.hp1
HG01257.hp2
HG01981.hp2
HG02148.hp1
 intron_variant MODIFIER c.375-167G>C
c.375-167G>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 chrX 1627536
chrX:1627613
T
T
 C
C
 1 a0009c0014t0002g0075
a0009c0014t0002g0075
 1 HG02683.hp2
HG02683.hp2
 intron_variant MODIFIER c.375-90T>C
c.375-90T>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 chrX 1627613
chrX:1627633
C
C
 CGAAAT
CGAAAT
 12 a0001c0001t0001g0006
a0001c0001t0001g0016
a0001c0001t0001g0043
others(9): Show 
a0001c0001t0001g0006
a0001c0001t0001g0016
a0001c0001t0001g0043
a0001c0001t0001g0053
a0001c0001t0001g0121
a0001c0001t0002g0161
a0001c0003t0001g0193
a0001c0003t0002g0177
a0002c0002t0001g0078
a0002c0002t0001g0126
a0002c0002t0002g0199
a0014c0018t0001g0060
 12 HG01257.hp1
HG01516.hp2
HG01934.hp1
others(9): Show 
HG01257.hp1
HG01516.hp2
HG01934.hp1
HG02922.hp2
HG02976.hp2
HG03041.hp2
HG03239.hp2
HG03540.hp1
HG03927.hp1
NA18988.hp1
NA19011.hp2
NA19057.hp2
 intron_variant MODIFIER c.375-30_375-26dupTG
others(3): Show 
c.375-30_375-26dupTGAAA
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chrX 1627633
chrX:1627633
C
C
 CGAAATGA
others(3): Show 
CGAAATGAAAT
 3 a0002c0002t0001g0087
a0002c0002t0001g0088
a0009c0014t0002g0075
a0002c0002t0001g0087
a0002c0002t0001g0088
a0009c0014t0002g0075
 3 HG01081.hp1
HG01168.hp1
HG02683.hp2
HG01081.hp1
HG01168.hp1
HG02683.hp2
 intron_variant MODIFIER c.375-35_375-26dupTG
others(8): Show 
c.375-35_375-26dupTGAAATGAAA
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chrX 1627633
chrX:1627633
CGAAAT
CGAAAT
 C
C
 6 a0001c0001t0001g0035
a0001c0001t0001g0203
a0001c0001t0001g0212
others(3): Show 
a0001c0001t0001g0035
a0001c0001t0001g0203
a0001c0001t0001g0212
a0001c0001t0002g0145
a0001c0003t0002g0182
a0002c0002t0002g0188
 6 HG01891.hp2
HG02293.hp1
HG02451.hp2
others(3): Show 
HG01891.hp2
HG02293.hp1
HG02451.hp2
HG03669.hp1
HG06807.hp2
NA18985.hp1
 intron_variant MODIFIER c.375-30_375-26delTG
others(3): Show 
c.375-30_375-26delTGAAA
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chrX 1627633
chrX:1627633
CGAAATGA
others(3): Show 
CGAAATGAAAT
 C
C
 67 a0001c0001t0001g0005
a0001c0001t0001g0027
a0001c0001t0001g0040
others(64): Show 
a0001c0001t0001g0005
a0001c0001t0001g0027
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0058
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0077
a0001c0001t0001g0081
a0001c0001t0001g0083
a0001c0001t0001g0114
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0204
a0001c0001t0001g0206
a0001c0001t0001g0209
a0001c0001t0001g0214
a0001c0001t0002g0132
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0002g0140
a0001c0001t0002g0144
a0001c0001t0002g0153
a0001c0001t0002g0164
a0001c0001t0002g0167
a0001c0001t0002g0190
a0001c0001t0002g0201
a0001c0003t0001g0050
a0001c0003t0001g0059
a0001c0003t0001g0091
a0001c0003t0001g0092
a0001c0003t0001g0093
a0001c0003t0001g0094
a0001c0003t0001g0107
a0001c0003t0002g0142
a0002c0002t0001g0002
a0002c0002t0001g0003
a0002c0002t0001g0026
a0002c0002t0001g0066
a0002c0002t0001g0073
a0002c0002t0001g0095
a0002c0002t0001g0099
a0002c0002t0001g0108
a0002c0002t0001g0122
a0002c0002t0001g0125
a0002c0002t0001g0127
a0002c0002t0001g0129
a0002c0002t0001g0130
a0002c0002t0001g0151
a0002c0002t0001g0185
a0002c0002t0001g0210
a0002c0002t0001g0222
a0002c0002t0002g0096
a0002c0002t0002g0112
a0002c0002t0002g0131
a0002c0002t0002g0146
a0002c0002t0002g0156
a0002c0002t0002g0159
a0002c0002t0002g0166
a0002c0002t0002g0172
a0002c0002t0002g0186
a0002c0002t0002g0207
a0002c0002t0002g0213
a0002c0010t0001g0010
a0007c0012t0001g0109
a0010c0015t0002g0179
a0012c0007t0001g0036
 67 HG00099.hp1
HG00423.hp1
HG00544.hp1
others(64): Show 
HG00099.hp1
HG00423.hp1
HG00544.hp1
HG00597.hp2
HG00733.hp2
HG01496.hp1
HG01496.hp2
HG01978.hp1
HG01993.hp1
HG02004.hp2
HG02080.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp2
HG02273.hp2
HG02293.hp2
HG02451.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02683.hp1
HG02723.hp2
HG02809.hp2
HG02976.hp1
HG03239.hp1
HG03453.hp1
HG03491.hp1
HG03516.hp1
HG03540.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp2
NA18906.hp2
NA18939.hp2
NA18941.hp1
NA18949.hp1
NA18949.hp2
NA18951.hp1
NA18954.hp2
NA18963.hp1
NA18968.hp1
NA18968.hp2
NA18973.hp1
NA18975.hp1
NA18975.hp2
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18986.hp2
NA18992.hp1
NA18992.hp2
NA18999.hp2
NA19003.hp1
NA19003.hp2
NA19011.hp1
NA19057.hp1
NA19064.hp1
NA19072.hp2
NA19074.hp1
NA19077.hp2
NA19080.hp2
NA19081.hp1
NA19082.hp1
 intron_variant MODIFIER c.375-35_375-26delTG
others(8): Show 
c.375-35_375-26delTGAAATGAAA
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chrX 1627633
chrX:1627633
CGAAATGA
others(8): Show 
CGAAATGAAATGAAAT
 C
C
 50 a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
others(47): Show 
a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0012
a0001c0001t0001g0014
a0001c0001t0001g0017
a0001c0001t0001g0019
a0001c0001t0001g0021
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0056
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0118
a0001c0001t0001g0123
a0001c0001t0001g0128
a0001c0001t0001g0158
a0001c0001t0001g0205
a0001c0001t0001g0211
a0001c0001t0001g0215
a0001c0001t0002g0039
a0001c0001t0002g0147
a0001c0001t0002g0168
a0001c0001t0002g0170
a0001c0001t0003g0090
a0001c0003t0001g0022
a0001c0003t0001g0051
a0001c0003t0001g0070
a0001c0003t0001g0171
a0001c0003t0002g0133
a0002c0002t0001g0009
a0002c0002t0001g0015
a0002c0002t0001g0020
a0002c0002t0001g0069
a0002c0002t0001g0074
a0002c0002t0001g0089
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0175
a0002c0002t0001g0189
a0002c0002t0001g0208
a0002c0002t0001g0220
a0002c0002t0001g0221
a0002c0002t0002g0160
a0003c0005t0001g0202
a0003c0009t0001g0011
a0006c0011t0001g0139
a0011c0008t0001g0034
 51 HG00323.hp1
HG00639.hp1
HG00733.hp1
others(48): Show 
HG00323.hp1
HG00639.hp1
HG00733.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01516.hp1
HG01517.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01975.hp2
HG02109.hp1
HG02109.hp2
HG02165.hp1
HG02257.hp1
HG02280.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02630.hp2
HG02723.hp1
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG03041.hp1
HG03195.hp1
HG03195.hp2
HG03453.hp2
HG03486.hp2
HG03516.hp2
HG06807.hp1
NA18906.hp1
NA18954.hp1
NA18963.hp2
NA18998.hp1
NA19030.hp2
NA19077.hp1
NA19080.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.375-40_375-26delTG
others(13): Show 
c.375-40_375-26delTGAAATGAAATGAAA
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 INFO_REALIGN_3_PRIME chrX 1627633
chrX:1627689
C
C
 CA
CA
 1 a0012c0007t0001g0036
a0012c0007t0001g0036
 1 NA19082.hp1
NA19082.hp1
 intron_variant MODIFIER c.375-14_375-13insA
c.375-14_375-13insA
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 3/8 chrX 1627689
chrX:1627934
T
T
 TC
TC
 1 a0012c0007t0001g0036
a0012c0007t0001g0036
 1 NA19082.hp1
NA19082.hp1
 intron_variant MODIFIER c.443+164dupC
c.443+164dupC
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 4/8 INFO_REALIGN_3_PRIME chrX 1627934
chrX:1627936
A
A
 G
G
 177 a0001c0001t0001g0001
a0001c0001t0001g0005
a0001c0001t0001g0006
others(174): Show 
a0001c0001t0001g0001
a0001c0001t0001g0005
a0001c0001t0001g0006
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0012
a0001c0001t0001g0014
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0019
a0001c0001t0001g0021
a0001c0001t0001g0027
a0001c0001t0001g0035
a0001c0001t0001g0037
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0053
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0061
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0068
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0079
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0086
a0001c0001t0001g0097
a0001c0001t0001g0100
a0001c0001t0001g0102
a0001c0001t0001g0103
a0001c0001t0001g0114
a0001c0001t0001g0118
a0001c0001t0001g0121
a0001c0001t0001g0123
a0001c0001t0001g0128
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0158
a0001c0001t0001g0174
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0209
a0001c0001t0001g0211
a0001c0001t0001g0212
a0001c0001t0001g0214
a0001c0001t0001g0215
a0001c0001t0002g0039
a0001c0001t0002g0132
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0002g0140
a0001c0001t0002g0143
a0001c0001t0002g0144
a0001c0001t0002g0145
a0001c0001t0002g0147
a0001c0001t0002g0152
a0001c0001t0002g0153
a0001c0001t0002g0164
a0001c0001t0002g0167
a0001c0001t0002g0168
a0001c0001t0002g0170
a0001c0001t0002g0180
a0001c0001t0002g0190
a0001c0001t0002g0196
a0001c0001t0002g0200
a0001c0001t0002g0201
a0001c0001t0002g0218
a0001c0001t0003g0090
a0001c0001t0005g0165
a0001c0003t0001g0013
a0001c0003t0001g0022
a0001c0003t0001g0023
a0001c0003t0001g0038
a0001c0003t0001g0050
a0001c0003t0001g0051
a0001c0003t0001g0062
a0001c0003t0001g0070
a0001c0003t0001g0080
a0001c0003t0001g0091
a0001c0003t0001g0107
a0001c0003t0001g0171
a0001c0003t0001g0219
a0001c0003t0002g0133
a0001c0003t0002g0142
a0001c0003t0002g0150
a0001c0003t0002g0155
a0001c0003t0002g0173
a0002c0002t0001g0002
a0002c0002t0001g0003
a0002c0002t0001g0009
a0002c0002t0001g0015
a0002c0002t0001g0020
a0002c0002t0001g0026
a0002c0002t0001g0031
a0002c0002t0001g0042
a0002c0002t0001g0044
a0002c0002t0001g0054
a0002c0002t0001g0066
a0002c0002t0001g0069
a0002c0002t0001g0073
a0002c0002t0001g0074
a0002c0002t0001g0078
a0002c0002t0001g0085
a0002c0002t0001g0089
a0002c0002t0001g0095
a0002c0002t0001g0098
a0002c0002t0001g0099
a0002c0002t0001g0108
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0119
a0002c0002t0001g0122
a0002c0002t0001g0124
a0002c0002t0001g0125
a0002c0002t0001g0127
a0002c0002t0001g0129
a0002c0002t0001g0130
a0002c0002t0001g0151
a0002c0002t0001g0175
a0002c0002t0001g0185
a0002c0002t0001g0189
a0002c0002t0001g0208
a0002c0002t0001g0210
a0002c0002t0001g0220
a0002c0002t0001g0221
a0002c0002t0001g0222
a0002c0002t0002g0096
a0002c0002t0002g0112
a0002c0002t0002g0131
a0002c0002t0002g0136
a0002c0002t0002g0146
a0002c0002t0002g0154
a0002c0002t0002g0156
a0002c0002t0002g0159
a0002c0002t0002g0160
a0002c0002t0002g0166
a0002c0002t0002g0172
a0002c0002t0002g0178
a0002c0002t0002g0181
a0002c0002t0002g0186
a0002c0002t0002g0188
a0002c0002t0002g0191
a0002c0002t0002g0198
a0002c0002t0002g0207
a0002c0002t0002g0213
a0002c0002t0002g0216
a0002c0006t0001g0187
a0002c0010t0001g0010
a0003c0005t0001g0202
a0003c0009t0001g0011
a0004c0004t0001g0169
a0006c0011t0001g0139
a0007c0012t0001g0109
a0008c0013t0001g0101
a0009c0014t0002g0075
a0010c0015t0002g0179
a0011c0008t0001g0034
a0012c0007t0001g0036
a0013c0017t0001g0111
a0014c0018t0001g0060
 178 HG00099.hp1
HG00099.hp2
HG00323.hp1
others(175): Show 
HG00099.hp1
HG00099.hp2
HG00323.hp1
HG00423.hp1
HG00423.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp2
HG00639.hp1
HG00639.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp2
HG01175.hp1
HG01256.hp1
HG01257.hp1
HG01257.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01496.hp1
HG01496.hp2
HG01516.hp1
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02683.hp1
HG02683.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03195.hp1
HG03195.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03669.hp1
HG03704.hp1
HG03927.hp1
HG04184.hp2
HG04204.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp1
NA18942.hp2
NA18947.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18956.hp2
NA18963.hp1
NA18963.hp2
NA18968.hp1
NA18973.hp1
NA18974.hp1
NA18975.hp1
NA18975.hp2
NA18977.hp2
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18988.hp1
NA18992.hp1
NA18998.hp1
NA18998.hp2
NA18999.hp2
NA19002.hp1
NA19003.hp1
NA19003.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19030.hp2
NA19057.hp1
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19072.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19082.hp1
NA19085.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.443+165A>G
c.443+165A>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 4/8 chrX 1627936
chrX:1627937
T
T
 A
A
 43 a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0012
others(40): Show 
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0012
a0001c0001t0001g0017
a0001c0001t0001g0019
a0001c0001t0001g0021
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0056
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0118
a0001c0001t0001g0121
a0001c0001t0001g0123
a0001c0001t0001g0128
a0001c0001t0001g0215
a0001c0001t0002g0039
a0001c0001t0002g0147
a0001c0001t0002g0168
a0001c0001t0002g0170
a0001c0001t0002g0200
a0001c0003t0001g0051
a0001c0003t0001g0070
a0001c0003t0001g0171
a0001c0003t0002g0133
a0002c0002t0001g0009
a0002c0002t0001g0020
a0002c0002t0001g0073
a0002c0002t0001g0089
a0002c0002t0001g0095
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0175
a0002c0002t0001g0189
a0002c0002t0001g0220
a0002c0002t0001g0221
a0002c0002t0002g0160
a0002c0002t0002g0178
a0003c0005t0001g0202
a0011c0008t0001g0034
a0014c0018t0001g0060
 43 HG00323.hp1
HG00639.hp1
HG00733.hp1
others(40): Show 
HG00323.hp1
HG00639.hp1
HG00733.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01516.hp1
HG01517.hp1
HG01884.hp1
HG01884.hp2
HG01975.hp2
HG01978.hp2
HG01993.hp2
HG02109.hp2
HG02155.hp2
HG02165.hp1
HG02257.hp1
HG02280.hp1
HG02523.hp2
HG02630.hp2
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02922.hp1
HG03041.hp1
HG03041.hp2
HG03195.hp1
HG03453.hp2
HG03486.hp2
HG03516.hp2
NA18954.hp1
NA18963.hp2
NA18988.hp1
NA18998.hp1
NA19003.hp1
NA19077.hp1
NA19080.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA21309.hp2
 intron_variant MODIFIER c.443+166T>A
c.443+166T>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 4/8 chrX 1627937
chrX:1627938
C
C
 A
A
 43 a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0012
others(40): Show 
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0012
a0001c0001t0001g0017
a0001c0001t0001g0019
a0001c0001t0001g0021
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0056
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0118
a0001c0001t0001g0121
a0001c0001t0001g0123
a0001c0001t0001g0128
a0001c0001t0001g0215
a0001c0001t0002g0039
a0001c0001t0002g0147
a0001c0001t0002g0168
a0001c0001t0002g0170
a0001c0001t0002g0200
a0001c0003t0001g0051
a0001c0003t0001g0070
a0001c0003t0001g0171
a0001c0003t0002g0133
a0002c0002t0001g0009
a0002c0002t0001g0020
a0002c0002t0001g0073
a0002c0002t0001g0089
a0002c0002t0001g0095
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0175
a0002c0002t0001g0189
a0002c0002t0001g0220
a0002c0002t0001g0221
a0002c0002t0002g0160
a0002c0002t0002g0178
a0003c0005t0001g0202
a0011c0008t0001g0034
a0014c0018t0001g0060
 43 HG00323.hp1
HG00639.hp1
HG00733.hp1
others(40): Show 
HG00323.hp1
HG00639.hp1
HG00733.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01516.hp1
HG01517.hp1
HG01884.hp1
HG01884.hp2
HG01975.hp2
HG01978.hp2
HG01993.hp2
HG02109.hp2
HG02155.hp2
HG02165.hp1
HG02257.hp1
HG02280.hp1
HG02523.hp2
HG02630.hp2
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02922.hp1
HG03041.hp1
HG03041.hp2
HG03195.hp1
HG03453.hp2
HG03486.hp2
HG03516.hp2
NA18954.hp1
NA18963.hp2
NA18988.hp1
NA18998.hp1
NA19003.hp1
NA19077.hp1
NA19080.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA21309.hp2
 intron_variant MODIFIER c.443+167C>A
c.443+167C>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 4/8 chrX 1627938
chrX:1627942
TG
TG
 T
T
 1 a0001c0003t0001g0070
a0001c0003t0001g0070
 1 HG01884.hp2
HG01884.hp2
 intron_variant MODIFIER c.443+172delG
c.443+172delG
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 4/8 chrX 1627942
chrX:1627957
A
A
 G
G
 169 a0001c0001t0001g0001
a0001c0001t0001g0005
a0001c0001t0001g0006
others(166): Show 
a0001c0001t0001g0001
a0001c0001t0001g0005
a0001c0001t0001g0006
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0012
a0001c0001t0001g0014
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0019
a0001c0001t0001g0021
a0001c0001t0001g0027
a0001c0001t0001g0035
a0001c0001t0001g0037
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0053
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0061
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0068
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0079
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0086
a0001c0001t0001g0097
a0001c0001t0001g0100
a0001c0001t0001g0102
a0001c0001t0001g0103
a0001c0001t0001g0114
a0001c0001t0001g0118
a0001c0001t0001g0121
a0001c0001t0001g0123
a0001c0001t0001g0128
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0158
a0001c0001t0001g0174
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0209
a0001c0001t0001g0212
a0001c0001t0001g0215
a0001c0001t0002g0039
a0001c0001t0002g0132
a0001c0001t0002g0135
a0001c0001t0002g0140
a0001c0001t0002g0143
a0001c0001t0002g0144
a0001c0001t0002g0145
a0001c0001t0002g0147
a0001c0001t0002g0152
a0001c0001t0002g0153
a0001c0001t0002g0164
a0001c0001t0002g0167
a0001c0001t0002g0168
a0001c0001t0002g0170
a0001c0001t0002g0180
a0001c0001t0002g0190
a0001c0001t0002g0196
a0001c0001t0002g0200
a0001c0001t0002g0201
a0001c0001t0002g0218
a0001c0001t0005g0165
a0001c0003t0001g0013
a0001c0003t0001g0022
a0001c0003t0001g0023
a0001c0003t0001g0038
a0001c0003t0001g0050
a0001c0003t0001g0051
a0001c0003t0001g0062
a0001c0003t0001g0070
a0001c0003t0001g0080
a0001c0003t0001g0091
a0001c0003t0001g0094
a0001c0003t0001g0107
a0001c0003t0001g0171
a0001c0003t0001g0219
a0001c0003t0002g0133
a0001c0003t0002g0142
a0001c0003t0002g0150
a0001c0003t0002g0155
a0001c0003t0002g0173
a0002c0002t0001g0002
a0002c0002t0001g0003
a0002c0002t0001g0009
a0002c0002t0001g0015
a0002c0002t0001g0020
a0002c0002t0001g0026
a0002c0002t0001g0031
a0002c0002t0001g0042
a0002c0002t0001g0044
a0002c0002t0001g0054
a0002c0002t0001g0066
a0002c0002t0001g0073
a0002c0002t0001g0074
a0002c0002t0001g0078
a0002c0002t0001g0085
a0002c0002t0001g0089
a0002c0002t0001g0095
a0002c0002t0001g0098
a0002c0002t0001g0099
a0002c0002t0001g0108
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0119
a0002c0002t0001g0124
a0002c0002t0001g0125
a0002c0002t0001g0127
a0002c0002t0001g0129
a0002c0002t0001g0130
a0002c0002t0001g0151
a0002c0002t0001g0175
a0002c0002t0001g0185
a0002c0002t0001g0189
a0002c0002t0001g0210
a0002c0002t0001g0220
a0002c0002t0001g0221
a0002c0002t0001g0222
a0002c0002t0002g0096
a0002c0002t0002g0112
a0002c0002t0002g0131
a0002c0002t0002g0136
a0002c0002t0002g0146
a0002c0002t0002g0154
a0002c0002t0002g0156
a0002c0002t0002g0159
a0002c0002t0002g0160
a0002c0002t0002g0166
a0002c0002t0002g0172
a0002c0002t0002g0178
a0002c0002t0002g0181
a0002c0002t0002g0186
a0002c0002t0002g0188
a0002c0002t0002g0191
a0002c0002t0002g0198
a0002c0002t0002g0207
a0002c0002t0002g0213
a0002c0002t0002g0216
a0002c0006t0001g0187
a0003c0005t0001g0202
a0004c0004t0001g0169
a0006c0011t0001g0139
a0007c0012t0001g0109
a0008c0013t0001g0101
a0009c0014t0002g0075
a0010c0015t0002g0179
a0011c0008t0001g0034
a0012c0007t0001g0036
a0013c0017t0001g0111
a0014c0018t0001g0060
 170 HG00099.hp1
HG00099.hp2
HG00323.hp1
others(167): Show 
HG00099.hp1
HG00099.hp2
HG00323.hp1
HG00423.hp1
HG00423.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp2
HG00639.hp1
HG00639.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp2
HG01175.hp1
HG01256.hp1
HG01257.hp1
HG01257.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01496.hp1
HG01496.hp2
HG01516.hp1
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp2
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02683.hp1
HG02683.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03195.hp1
HG03195.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03669.hp1
HG03704.hp1
HG03927.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp1
NA18942.hp2
NA18947.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18956.hp2
NA18963.hp1
NA18963.hp2
NA18968.hp1
NA18973.hp1
NA18974.hp1
NA18975.hp1
NA18975.hp2
NA18977.hp2
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18988.hp1
NA18992.hp1
NA18998.hp1
NA18998.hp2
NA18999.hp2
NA19002.hp1
NA19003.hp1
NA19003.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19057.hp1
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19072.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19082.hp1
NA19085.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.443+186A>G
c.443+186A>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 4/8 chrX 1627957
chrX:1627977
G
G
 A
A
 2 a0002c0002t0001g0175
a0002c0002t0001g0221
a0002c0002t0001g0175
a0002c0002t0001g0221
 2 HG01070.hp2
NA19240.hp2
HG01070.hp2
NA19240.hp2
 intron_variant MODIFIER c.443+206G>A
c.443+206G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 4/8 chrX 1627977
chrX:1628037
C
C
 T
T
 2 a0001c0001t0001g0001
a0001c0001t0001g0205
a0001c0001t0001g0001
a0001c0001t0001g0205
 3 HG02559.hp1
HG02723.hp1
NA19240.hp1
HG02559.hp1
HG02723.hp1
NA19240.hp1
 intron_variant MODIFIER c.443+266C>T
c.443+266C>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 4/8 chrX 1628037
chrX:1628063
G
G
 A
A
 85 a0001c0001t0001g0006
a0001c0001t0001g0008
a0001c0001t0001g0016
others(82): Show 
a0001c0001t0001g0006
a0001c0001t0001g0008
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0019
a0001c0001t0001g0021
a0001c0001t0001g0037
a0001c0001t0001g0043
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0053
a0001c0001t0001g0056
a0001c0001t0001g0061
a0001c0001t0001g0068
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0076
a0001c0001t0001g0079
a0001c0001t0001g0082
a0001c0001t0001g0084
a0001c0001t0001g0086
a0001c0001t0001g0097
a0001c0001t0001g0100
a0001c0001t0001g0102
a0001c0001t0001g0103
a0001c0001t0001g0114
a0001c0001t0001g0121
a0001c0001t0001g0123
a0001c0001t0001g0128
a0001c0001t0001g0158
a0001c0001t0001g0174
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0215
a0001c0001t0002g0039
a0001c0001t0002g0143
a0001c0001t0002g0147
a0001c0001t0002g0152
a0001c0001t0002g0168
a0001c0001t0002g0170
a0001c0001t0002g0180
a0001c0001t0002g0196
a0001c0001t0002g0200
a0001c0001t0005g0165
a0001c0003t0001g0013
a0001c0003t0001g0023
a0001c0003t0001g0051
a0001c0003t0001g0062
a0001c0003t0001g0070
a0001c0003t0001g0080
a0001c0003t0001g0171
a0001c0003t0002g0150
a0001c0003t0002g0155
a0002c0002t0001g0009
a0002c0002t0001g0015
a0002c0002t0001g0020
a0002c0002t0001g0031
a0002c0002t0001g0042
a0002c0002t0001g0054
a0002c0002t0001g0073
a0002c0002t0001g0074
a0002c0002t0001g0078
a0002c0002t0001g0085
a0002c0002t0001g0089
a0002c0002t0001g0095
a0002c0002t0001g0098
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0119
a0002c0002t0001g0124
a0002c0002t0001g0189
a0002c0002t0001g0220
a0002c0002t0002g0136
a0002c0002t0002g0154
a0002c0002t0002g0160
a0002c0002t0002g0178
a0002c0002t0002g0181
a0002c0002t0002g0216
a0002c0006t0001g0187
a0008c0013t0001g0101
a0009c0014t0002g0075
a0011c0008t0001g0034
a0013c0017t0001g0111
a0014c0018t0001g0060
 85 HG00099.hp2
HG00323.hp1
HG00544.hp1
others(82): Show 
HG00099.hp2
HG00323.hp1
HG00544.hp1
HG00544.hp2
HG00639.hp1
HG00639.hp2
HG00733.hp1
HG00735.hp1
HG00741.hp2
HG01070.hp1
HG01071.hp1
HG01071.hp2
HG01123.hp1
HG01168.hp2
HG01175.hp1
HG01257.hp1
HG01257.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01516.hp1
HG01517.hp1
HG01884.hp1
HG01884.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp2
HG02004.hp1
HG02148.hp1
HG02155.hp2
HG02165.hp1
HG02273.hp1
HG02280.hp1
HG02523.hp1
HG02523.hp2
HG02683.hp2
HG02809.hp1
HG02886.hp1
HG02886.hp2
HG02896.hp2
HG02922.hp2
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03195.hp1
HG03195.hp2
HG03453.hp2
HG03486.hp1
HG03516.hp2
HG03540.hp1
HG03704.hp1
HG03927.hp1
NA18939.hp1
NA18942.hp2
NA18947.hp2
NA18950.hp1
NA18951.hp2
NA18954.hp1
NA18955.hp1
NA18956.hp2
NA18963.hp2
NA18974.hp1
NA18977.hp2
NA18988.hp1
NA18998.hp1
NA18998.hp2
NA19002.hp1
NA19003.hp1
NA19010.hp1
NA19010.hp2
NA19064.hp2
NA19065.hp1
NA19074.hp2
NA19077.hp1
NA19080.hp1
NA19081.hp2
NA19085.hp1
NA20129.hp1
NA20300.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.443+292G>A
c.443+292G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 4/8 chrX 1628063
chrX:1628067
TC
TC
 T
T
 1 a0012c0007t0001g0036
a0012c0007t0001g0036
 1 NA19082.hp1
NA19082.hp1
 intron_variant MODIFIER c.443+299delC
c.443+299delC
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 4/8 INFO_REALIGN_3_PRIME chrX 1628067
chrX:1628119
G
G
 A
A
 1 a0001c0001t0001g0205
a0001c0001t0001g0205
 1 HG02723.hp1
HG02723.hp1
 intron_variant MODIFIER c.443+348G>A
c.443+348G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 4/8 chrX 1628119
chrX:1628128
C
C
 G
G
 1 a0001c0001t0001g0043
a0001c0001t0001g0043
 1 HG02976.hp2
HG02976.hp2
 intron_variant MODIFIER c.443+357C>G
c.443+357C>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 4/8 chrX 1628128
chrX:1628202
TC
TC
 T
T
 1 a0012c0007t0001g0036
a0012c0007t0001g0036
 1 NA19082.hp1
NA19082.hp1
 intron_variant MODIFIER c.443+434delC
c.443+434delC
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 4/8 INFO_REALIGN_3_PRIME chrX 1628202
chrX:1628211
G
G
 C
C
 73 a0001c0001t0001g0001
a0001c0001t0001g0005
a0001c0001t0001g0008
others(70): Show 
a0001c0001t0001g0001
a0001c0001t0001g0005
a0001c0001t0001g0008
a0001c0001t0001g0014
a0001c0001t0001g0017
a0001c0001t0001g0019
a0001c0001t0001g0021
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0058
a0001c0001t0001g0065
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0077
a0001c0001t0001g0083
a0001c0001t0001g0121
a0001c0001t0001g0123
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0209
a0001c0001t0001g0212
a0001c0001t0001g0214
a0001c0001t0001g0215
a0001c0001t0002g0132
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0002g0144
a0001c0001t0002g0145
a0001c0001t0002g0167
a0001c0001t0002g0190
a0001c0001t0002g0218
a0001c0001t0003g0090
a0001c0003t0001g0022
a0001c0003t0001g0050
a0001c0003t0001g0107
a0002c0002t0001g0003
a0002c0002t0001g0009
a0002c0002t0001g0020
a0002c0002t0001g0044
a0002c0002t0001g0066
a0002c0002t0001g0108
a0002c0002t0001g0125
a0002c0002t0001g0127
a0002c0002t0001g0129
a0002c0002t0001g0130
a0002c0002t0001g0151
a0002c0002t0001g0210
a0002c0002t0001g0222
a0002c0002t0002g0096
a0002c0002t0002g0112
a0002c0002t0002g0146
a0002c0002t0002g0156
a0002c0002t0002g0159
a0002c0002t0002g0162
a0002c0002t0002g0163
a0002c0002t0002g0166
a0002c0002t0002g0172
a0002c0002t0002g0183
a0002c0002t0002g0186
a0002c0002t0002g0188
a0002c0002t0002g0191
a0002c0002t0002g0207
a0002c0002t0002g0213
a0002c0010t0001g0010
a0003c0009t0001g0011
a0004c0004t0001g0169
a0006c0011t0001g0139
a0007c0012t0001g0109
a0009c0014t0002g0075
 74 HG00099.hp1
HG00423.hp1
HG00438.hp1
others(71): Show 
HG00099.hp1
HG00423.hp1
HG00438.hp1
HG00597.hp1
HG00733.hp2
HG00741.hp1
HG00741.hp2
HG01256.hp1
HG01517.hp2
HG01884.hp1
HG01891.hp2
HG02004.hp2
HG02080.hp1
HG02080.hp2
HG02155.hp1
HG02257.hp2
HG02280.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02683.hp1
HG02683.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp1
HG02976.hp1
HG03041.hp1
HG03041.hp2
HG03195.hp1
HG03239.hp1
HG03453.hp2
HG03516.hp1
HG03669.hp1
HG04184.hp2
HG04204.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp2
NA18941.hp1
NA18949.hp1
NA18949.hp2
NA18951.hp1
NA18954.hp2
NA18963.hp1
NA18968.hp1
NA18973.hp1
NA18975.hp1
NA18975.hp2
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18999.hp2
NA19003.hp2
NA19011.hp1
NA19030.hp2
NA19057.hp1
NA19080.hp2
NA19081.hp1
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
 intron_variant MODIFIER c.443+440G>C
c.443+440G>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 4/8 chrX 1628211
chrX:1628262
G
G
 A
A
 2 a0002c0010t0001g0010
a0006c0011t0001g0139
a0002c0010t0001g0010
a0006c0011t0001g0139
 2 HG02559.hp2
HG02622.hp2
HG02559.hp2
HG02622.hp2
 intron_variant MODIFIER c.443+491G>A
c.443+491G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 4/8 chrX 1628262
chrX:1628267
T
T
 G
G
 2 a0002c0002t0001g0074
a0002c0002t0002g0136
a0002c0002t0001g0074
a0002c0002t0002g0136
 2 HG03486.hp1
NA21309.hp1
HG03486.hp1
NA21309.hp1
 intron_variant MODIFIER c.443+496T>G
c.443+496T>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 4/8 chrX 1628267
chrX:1628269
T
T
 C
C
 2 a0002c0002t0001g0074
a0002c0002t0002g0136
a0002c0002t0001g0074
a0002c0002t0002g0136
 2 HG03486.hp1
NA21309.hp1
HG03486.hp1
NA21309.hp1
 intron_variant MODIFIER c.443+498T>C
c.443+498T>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 4/8 chrX 1628269
chrX:1628270
G
G
 A
A
 2 a0002c0002t0001g0074
a0002c0002t0002g0136
a0002c0002t0001g0074
a0002c0002t0002g0136
 2 HG03486.hp1
NA21309.hp1
HG03486.hp1
NA21309.hp1
 intron_variant MODIFIER c.443+499G>A
c.443+499G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 4/8 chrX 1628270
chrX:1628275
C
C
 T
T
 2 a0002c0002t0001g0074
a0002c0002t0002g0136
a0002c0002t0001g0074
a0002c0002t0002g0136
 2 HG03486.hp1
NA21309.hp1
HG03486.hp1
NA21309.hp1
 intron_variant MODIFIER c.443+504C>T
c.443+504C>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 4/8 chrX 1628275
chrX:1628276
G
G
 C
C
 5 a0001c0001t0001g0001
a0001c0001t0001g0014
a0001c0001t0001g0205
others(2): Show 
a0001c0001t0001g0001
a0001c0001t0001g0014
a0001c0001t0001g0205
a0001c0001t0001g0209
a0001c0003t0001g0022
 6 HG02559.hp1
HG02723.hp1
HG02809.hp2
others(3): Show 
HG02559.hp1
HG02723.hp1
HG02809.hp2
HG06807.hp1
NA18906.hp1
NA19240.hp1
 intron_variant MODIFIER c.443+505G>C
c.443+505G>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 4/8 chrX 1628276
chrX:1628277
C
C
 T
T
 2 a0002c0002t0001g0074
a0002c0002t0002g0136
a0002c0002t0001g0074
a0002c0002t0002g0136
 2 HG03486.hp1
NA21309.hp1
HG03486.hp1
NA21309.hp1
 intron_variant MODIFIER c.443+506C>T
c.443+506C>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 4/8 chrX 1628277
chrX:1628278
A
A
 G
G
 7 a0001c0001t0001g0001
a0001c0001t0001g0014
a0001c0001t0001g0205
others(4): Show 
a0001c0001t0001g0001
a0001c0001t0001g0014
a0001c0001t0001g0205
a0001c0001t0001g0209
a0001c0003t0001g0022
a0002c0002t0001g0074
a0002c0002t0002g0136
 8 HG02559.hp1
HG02723.hp1
HG02809.hp2
others(5): Show 
HG02559.hp1
HG02723.hp1
HG02809.hp2
HG03486.hp1
HG06807.hp1
NA18906.hp1
NA19240.hp1
NA21309.hp1
 intron_variant MODIFIER c.443+507A>G
c.443+507A>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 4/8 chrX 1628278
chrX:1628291
A
A
 T
T
 3 a0001c0001t0001g0001
a0001c0001t0001g0205
a0001c0001t0001g0209
a0001c0001t0001g0001
a0001c0001t0001g0205
a0001c0001t0001g0209
 4 HG02559.hp1
HG02723.hp1
HG02809.hp2
others(1): Show 
HG02559.hp1
HG02723.hp1
HG02809.hp2
NA19240.hp1
 intron_variant MODIFIER c.443+520A>T
c.443+520A>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 4/8 chrX 1628291
chrX:1628412
CT
CT
 C
C
 1 a0012c0007t0001g0036
a0012c0007t0001g0036
 1 NA19082.hp1
NA19082.hp1
 intron_variant MODIFIER c.443+644delT
c.443+644delT
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 4/8 INFO_REALIGN_3_PRIME chrX 1628412
chrX:1628427
A
A
 G
G
 55 a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
others(52): Show 
a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0012
a0001c0001t0001g0014
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0056
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0118
a0001c0001t0001g0121
a0001c0001t0001g0123
a0001c0001t0001g0128
a0001c0001t0001g0158
a0001c0001t0001g0203
a0001c0001t0001g0205
a0001c0001t0001g0209
a0001c0001t0001g0211
a0001c0001t0001g0212
a0001c0001t0001g0215
a0001c0001t0002g0039
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0002g0147
a0001c0001t0002g0168
a0001c0001t0002g0170
a0001c0001t0002g0190
a0001c0001t0002g0200
a0001c0001t0003g0090
a0001c0003t0001g0022
a0001c0003t0001g0051
a0001c0003t0001g0070
a0001c0003t0001g0171
a0001c0003t0002g0133
a0002c0002t0001g0009
a0002c0002t0001g0015
a0002c0002t0001g0073
a0002c0002t0001g0074
a0002c0002t0001g0089
a0002c0002t0001g0095
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0189
a0002c0002t0001g0210
a0002c0002t0001g0220
a0002c0002t0002g0160
a0002c0002t0002g0178
a0003c0005t0001g0202
a0003c0009t0001g0011
a0005c0016t0001g0045
a0011c0008t0001g0034
a0014c0018t0001g0060
 56 HG00323.hp1
HG00639.hp1
HG00733.hp1
others(53): Show 
HG00323.hp1
HG00639.hp1
HG00733.hp1
HG01070.hp1
HG01071.hp1
HG01516.hp1
HG01517.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG01975.hp2
HG01978.hp2
HG01993.hp2
HG02109.hp2
HG02155.hp2
HG02165.hp1
HG02257.hp1
HG02451.hp2
HG02523.hp2
HG02559.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02976.hp1
HG03041.hp1
HG03041.hp2
HG03195.hp2
HG03453.hp2
HG03486.hp2
HG03516.hp2
HG06807.hp1
NA18906.hp1
NA18954.hp1
NA18963.hp2
NA18988.hp1
NA18998.hp1
NA19003.hp1
NA19030.hp1
NA19030.hp2
NA19077.hp1
NA19080.hp1
NA19240.hp1
NA20129.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.443+656A>G
c.443+656A>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 4/8 chrX 1628427
chrX:1628442
G
G
 GC
GC
 1 a0012c0007t0001g0036
a0012c0007t0001g0036
 1 NA19082.hp1
NA19082.hp1
 intron_variant MODIFIER c.443+674dupC
c.443+674dupC
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 4/8 INFO_REALIGN_3_PRIME chrX 1628442
chrX:1628588
C
C
 A
A
 24 a0001c0001t0001g0007
a0001c0001t0001g0012
a0001c0001t0001g0017
others(21): Show 
a0001c0001t0001g0007
a0001c0001t0001g0012
a0001c0001t0001g0017
a0001c0001t0001g0019
a0001c0001t0001g0021
a0001c0001t0001g0046
a0001c0001t0001g0067
a0001c0001t0001g0118
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0212
a0001c0001t0002g0144
a0001c0001t0002g0145
a0001c0003t0001g0091
a0001c0003t0001g0107
a0001c0003t0002g0133
a0002c0002t0001g0020
a0002c0002t0001g0069
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0129
a0002c0002t0001g0208
a0002c0002t0002g0159
a0003c0005t0001g0202
 24 HG00323.hp2
HG00597.hp2
HG00741.hp2
others(21): Show 
HG00323.hp2
HG00597.hp2
HG00741.hp2
HG01516.hp1
HG01517.hp1
HG01891.hp1
HG01891.hp2
HG02109.hp1
HG02109.hp2
HG02155.hp1
HG02257.hp1
HG02280.hp1
HG02451.hp2
HG02630.hp1
HG02630.hp2
HG02818.hp1
HG02922.hp1
HG03195.hp1
HG03239.hp1
HG03486.hp2
HG03516.hp1
HG06807.hp2
NA18906.hp2
NA20300.hp1
 intron_variant MODIFIER c.443+817C>A
c.443+817C>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 4/8 chrX 1628588
chrX:1628599
T
T
 TC
TC
 1 a0001c0003t0001g0094
a0001c0003t0001g0094
 1 HG04184.hp1
HG04184.hp1
 intron_variant MODIFIER c.443+832dupC
c.443+832dupC
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 4/8 INFO_REALIGN_3_PRIME chrX 1628599
chrX:1628615
C
C
 G
G
 66 a0001c0001t0001g0006
a0001c0001t0001g0008
a0001c0001t0001g0014
others(63): Show 
a0001c0001t0001g0006
a0001c0001t0001g0008
a0001c0001t0001g0014
a0001c0001t0001g0016
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0037
a0001c0001t0001g0043
a0001c0001t0001g0053
a0001c0001t0001g0061
a0001c0001t0001g0064
a0001c0001t0001g0068
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0076
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0086
a0001c0001t0001g0097
a0001c0001t0001g0100
a0001c0001t0001g0102
a0001c0001t0001g0103
a0001c0001t0001g0114
a0001c0001t0001g0121
a0001c0001t0001g0123
a0001c0001t0001g0138
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0215
a0001c0001t0002g0143
a0001c0001t0002g0144
a0001c0001t0002g0145
a0001c0001t0002g0152
a0001c0001t0002g0180
a0001c0001t0002g0190
a0001c0001t0002g0196
a0001c0001t0002g0218
a0001c0001t0005g0165
a0001c0003t0001g0013
a0001c0003t0001g0022
a0001c0003t0001g0023
a0001c0003t0001g0062
a0001c0003t0001g0080
a0001c0003t0002g0150
a0001c0003t0002g0155
a0002c0002t0001g0009
a0002c0002t0001g0031
a0002c0002t0001g0042
a0002c0002t0001g0044
a0002c0002t0001g0054
a0002c0002t0001g0078
a0002c0002t0001g0085
a0002c0002t0001g0098
a0002c0002t0001g0119
a0002c0002t0001g0124
a0002c0002t0002g0136
a0002c0002t0002g0154
a0002c0002t0002g0181
a0002c0002t0002g0191
a0002c0002t0002g0216
a0002c0006t0001g0187
a0002c0010t0001g0010
a0006c0011t0001g0139
a0008c0013t0001g0101
a0013c0017t0001g0111
 66 HG00099.hp2
HG00544.hp1
HG00544.hp2
others(63): Show 
HG00099.hp2
HG00544.hp1
HG00544.hp2
HG00639.hp2
HG00735.hp1
HG00741.hp1
HG01071.hp2
HG01123.hp1
HG01168.hp2
HG01175.hp1
HG01256.hp1
HG01257.hp1
HG01257.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01517.hp2
HG01884.hp1
HG01975.hp1
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02148.hp1
HG02148.hp2
HG02257.hp2
HG02273.hp1
HG02451.hp1
HG02523.hp1
HG02559.hp2
HG02622.hp2
HG02723.hp2
HG02809.hp1
HG02886.hp1
HG02922.hp2
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03453.hp2
HG03486.hp1
HG03540.hp1
HG03704.hp1
HG03831.hp1
HG03834.hp2
HG03927.hp1
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18942.hp2
NA18947.hp2
NA18950.hp1
NA18951.hp2
NA18956.hp2
NA18974.hp1
NA18977.hp2
NA19002.hp1
NA19010.hp1
NA19010.hp2
NA19064.hp2
NA19065.hp1
NA19074.hp2
NA19081.hp2
NA19085.hp1
NA20129.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.443+844C>G
c.443+844C>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 4/8 chrX 1628615
chrX:1628660
CT
CT
 C
C
 1 a0001c0001t0002g0168
a0001c0001t0002g0168
 1 HG00639.hp1
HG00639.hp1
 intron_variant MODIFIER c.443+892delT
c.443+892delT
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 4/8 INFO_REALIGN_3_PRIME chrX 1628660
chrX:1628716
C
C
 T
T
 4 a0002c0002t0001g0015
a0002c0002t0002g0160
a0002c0010t0001g0010
others(1): Show 
a0002c0002t0001g0015
a0002c0002t0002g0160
a0002c0010t0001g0010
a0006c0011t0001g0139
 4 HG02559.hp2
HG02622.hp2
HG02896.hp2
others(1): Show 
HG02559.hp2
HG02622.hp2
HG02896.hp2
HG03516.hp2
 intron_variant MODIFIER c.443+945C>T
c.443+945C>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 4/8 chrX 1628716
chrX:1628758
C
C
 T
T
 1 a0002c0002t0001g0129
a0002c0002t0001g0129
 1 HG03239.hp1
HG03239.hp1
 intron_variant MODIFIER c.443+987C>T
c.443+987C>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 4/8 chrX 1628758
chrX:1628781
C
C
 T
T
 78 a0001c0001t0001g0005
a0001c0001t0001g0028
a0001c0001t0001g0040
others(75): Show 
a0001c0001t0001g0005
a0001c0001t0001g0028
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0068
a0001c0001t0001g0077
a0001c0001t0001g0081
a0001c0001t0001g0128
a0001c0001t0001g0206
a0001c0001t0002g0039
a0001c0001t0002g0132
a0001c0001t0002g0140
a0001c0001t0002g0147
a0001c0001t0002g0167
a0001c0001t0002g0170
a0001c0001t0002g0190
a0001c0001t0002g0200
a0001c0001t0002g0201
a0001c0001t0005g0165
a0001c0003t0001g0023
a0001c0003t0001g0038
a0001c0003t0001g0050
a0001c0003t0001g0051
a0001c0003t0001g0171
a0001c0003t0002g0142
a0002c0002t0001g0002
a0002c0002t0001g0003
a0002c0002t0001g0015
a0002c0002t0001g0026
a0002c0002t0001g0031
a0002c0002t0001g0066
a0002c0002t0001g0073
a0002c0002t0001g0074
a0002c0002t0001g0078
a0002c0002t0001g0087
a0002c0002t0001g0088
a0002c0002t0001g0089
a0002c0002t0001g0095
a0002c0002t0001g0099
a0002c0002t0001g0108
a0002c0002t0001g0125
a0002c0002t0001g0127
a0002c0002t0001g0130
a0002c0002t0001g0151
a0002c0002t0001g0185
a0002c0002t0001g0189
a0002c0002t0001g0220
a0002c0002t0001g0222
a0002c0002t0002g0096
a0002c0002t0002g0112
a0002c0002t0002g0131
a0002c0002t0002g0146
a0002c0002t0002g0156
a0002c0002t0002g0160
a0002c0002t0002g0166
a0002c0002t0002g0172
a0002c0002t0002g0178
a0002c0002t0002g0183
a0002c0002t0002g0186
a0002c0002t0002g0188
a0002c0002t0002g0207
a0002c0002t0002g0213
a0002c0010t0001g0010
a0004c0004t0001g0169
a0005c0016t0001g0045
a0006c0011t0001g0139
a0007c0012t0001g0109
a0010c0015t0002g0179
a0011c0008t0001g0034
a0012c0007t0001g0036
a0014c0018t0001g0060
 78 HG00099.hp1
HG00323.hp1
HG00423.hp1
others(75): Show 
HG00099.hp1
HG00323.hp1
HG00423.hp1
HG00733.hp1
HG00733.hp2
HG01070.hp1
HG01071.hp1
HG01081.hp1
HG01168.hp1
HG01175.hp1
HG01346.hp2
HG01496.hp1
HG01975.hp2
HG01978.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02080.hp1
HG02080.hp2
HG02148.hp2
HG02155.hp2
HG02165.hp1
HG02273.hp1
HG02273.hp2
HG02293.hp2
HG02523.hp2
HG02559.hp2
HG02622.hp2
HG02683.hp1
HG02723.hp2
HG02886.hp2
HG02896.hp2
HG03453.hp1
HG03491.hp1
HG03516.hp2
HG03669.hp1
HG03927.hp1
HG04184.hp2
HG04204.hp2
NA18939.hp2
NA18941.hp1
NA18949.hp2
NA18951.hp1
NA18954.hp1
NA18954.hp2
NA18963.hp1
NA18963.hp2
NA18968.hp1
NA18973.hp1
NA18975.hp1
NA18975.hp2
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18988.hp1
NA18992.hp1
NA18998.hp1
NA18999.hp1
NA18999.hp2
NA19003.hp1
NA19003.hp2
NA19011.hp1
NA19030.hp1
NA19057.hp1
NA19064.hp1
NA19065.hp2
NA19072.hp2
NA19074.hp1
NA19077.hp1
NA19077.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19082.hp1
NA20129.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.443+1010C>T
c.443+1010C>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 4/8 chrX 1628781
chrX:1628830
T
T
 TCTC
TCTC
 163 a0001c0001t0001g0005
a0001c0001t0001g0006
a0001c0001t0001g0007
others(160): Show 
a0001c0001t0001g0005
a0001c0001t0001g0006
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0012
a0001c0001t0001g0014
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0019
a0001c0001t0001g0021
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0028
a0001c0001t0001g0037
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0053
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0061
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0086
a0001c0001t0001g0097
a0001c0001t0001g0100
a0001c0001t0001g0102
a0001c0001t0001g0103
a0001c0001t0001g0114
a0001c0001t0001g0118
a0001c0001t0001g0121
a0001c0001t0001g0123
a0001c0001t0001g0128
a0001c0001t0001g0138
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0206
a0001c0001t0001g0212
a0001c0001t0001g0214
a0001c0001t0001g0215
a0001c0001t0002g0039
a0001c0001t0002g0132
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0002g0140
a0001c0001t0002g0143
a0001c0001t0002g0144
a0001c0001t0002g0145
a0001c0001t0002g0147
a0001c0001t0002g0152
a0001c0001t0002g0167
a0001c0001t0002g0168
a0001c0001t0002g0170
a0001c0001t0002g0180
a0001c0001t0002g0190
a0001c0001t0002g0196
a0001c0001t0002g0200
a0001c0001t0002g0201
a0001c0001t0002g0218
a0001c0001t0003g0090
a0001c0001t0005g0165
a0001c0003t0001g0013
a0001c0003t0001g0022
a0001c0003t0001g0023
a0001c0003t0001g0050
a0001c0003t0001g0051
a0001c0003t0001g0062
a0001c0003t0001g0070
a0001c0003t0001g0080
a0001c0003t0001g0091
a0001c0003t0001g0107
a0001c0003t0001g0171
a0001c0003t0002g0133
a0001c0003t0002g0142
a0001c0003t0002g0150
a0001c0003t0002g0155
a0001c0003t0002g0182
a0002c0002t0001g0002
a0002c0002t0001g0003
a0002c0002t0001g0009
a0002c0002t0001g0015
a0002c0002t0001g0020
a0002c0002t0001g0026
a0002c0002t0001g0031
a0002c0002t0001g0042
a0002c0002t0001g0044
a0002c0002t0001g0054
a0002c0002t0001g0066
a0002c0002t0001g0069
a0002c0002t0001g0073
a0002c0002t0001g0074
a0002c0002t0001g0078
a0002c0002t0001g0085
a0002c0002t0001g0087
a0002c0002t0001g0088
a0002c0002t0001g0089
a0002c0002t0001g0095
a0002c0002t0001g0098
a0002c0002t0001g0099
a0002c0002t0001g0108
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0119
a0002c0002t0001g0124
a0002c0002t0001g0125
a0002c0002t0001g0127
a0002c0002t0001g0129
a0002c0002t0001g0130
a0002c0002t0001g0151
a0002c0002t0001g0185
a0002c0002t0001g0189
a0002c0002t0001g0208
a0002c0002t0001g0220
a0002c0002t0001g0222
a0002c0002t0002g0096
a0002c0002t0002g0112
a0002c0002t0002g0131
a0002c0002t0002g0136
a0002c0002t0002g0146
a0002c0002t0002g0154
a0002c0002t0002g0156
a0002c0002t0002g0159
a0002c0002t0002g0160
a0002c0002t0002g0166
a0002c0002t0002g0172
a0002c0002t0002g0178
a0002c0002t0002g0181
a0002c0002t0002g0183
a0002c0002t0002g0186
a0002c0002t0002g0188
a0002c0002t0002g0191
a0002c0002t0002g0207
a0002c0002t0002g0213
a0002c0002t0002g0216
a0002c0006t0001g0187
a0002c0010t0001g0010
a0003c0005t0001g0202
a0004c0004t0001g0169
a0005c0016t0001g0045
a0006c0011t0001g0139
a0007c0012t0001g0109
a0008c0013t0001g0101
a0010c0015t0002g0179
a0011c0008t0001g0034
a0012c0007t0001g0036
a0013c0017t0001g0111
a0014c0018t0001g0060
 163 HG00099.hp1
HG00099.hp2
HG00323.hp1
others(160): Show 
HG00099.hp1
HG00099.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00544.hp1
HG00544.hp2
HG00597.hp2
HG00639.hp1
HG00639.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01123.hp1
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01256.hp1
HG01257.hp1
HG01257.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01496.hp1
HG01516.hp1
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02683.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03195.hp1
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03669.hp1
HG03704.hp1
HG03831.hp1
HG03834.hp2
HG03927.hp1
HG04184.hp2
HG04204.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp1
NA18942.hp2
NA18947.hp2
NA18949.hp2
NA18950.hp1
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp2
NA18963.hp1
NA18963.hp2
NA18968.hp1
NA18973.hp1
NA18974.hp1
NA18975.hp1
NA18975.hp2
NA18977.hp2
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18985.hp1
NA18988.hp1
NA18992.hp1
NA18998.hp1
NA18999.hp1
NA18999.hp2
NA19002.hp1
NA19003.hp1
NA19003.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19030.hp1
NA19057.hp1
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19072.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19082.hp1
NA19085.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.444-989_444-988ins
others(3): Show 
c.444-989_444-988insCCT
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 4/8 INFO_REALIGN_3_PRIME chrX 1628830
chrX:1628880
T
T
 C
C
 1 a0002c0002t0001g0002
a0002c0002t0001g0002
 1 HG03453.hp1
HG03453.hp1
 intron_variant MODIFIER c.444-941T>C
c.444-941T>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 4/8 chrX 1628880
chrX:1628917
C
C
 T
T
 1 a0001c0001t0001g0056
a0001c0001t0001g0056
 1 HG00323.hp1
HG00323.hp1
 intron_variant MODIFIER c.444-904C>T
c.444-904C>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 4/8 chrX 1628917
chrX:1628917
CGTTTCTC
others(5): Show 
CGTTTCTCTCTTT
 C
C
 1 a0001c0001t0001g0158
a0001c0001t0001g0158
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.444-903_444-892del
others(12): Show 
c.444-903_444-892delGTTTCTCTCTTT
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 4/8 chrX 1628917
chrX:1628918
G
G
 A
A
 78 a0001c0001t0001g0001
a0001c0001t0001g0006
a0001c0001t0001g0016
others(75): Show 
a0001c0001t0001g0001
a0001c0001t0001g0006
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0019
a0001c0001t0001g0021
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0037
a0001c0001t0001g0043
a0001c0001t0001g0053
a0001c0001t0001g0061
a0001c0001t0001g0076
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0086
a0001c0001t0001g0097
a0001c0001t0001g0100
a0001c0001t0001g0102
a0001c0001t0001g0103
a0001c0001t0001g0114
a0001c0001t0001g0138
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0209
a0001c0001t0001g0212
a0001c0001t0001g0214
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0002g0143
a0001c0001t0002g0144
a0001c0001t0002g0145
a0001c0001t0002g0152
a0001c0001t0002g0168
a0001c0001t0002g0180
a0001c0001t0002g0190
a0001c0001t0002g0196
a0001c0001t0002g0218
a0001c0001t0003g0090
a0001c0003t0001g0013
a0001c0003t0001g0062
a0001c0003t0001g0080
a0001c0003t0001g0091
a0001c0003t0001g0107
a0001c0003t0002g0155
a0002c0002t0001g0002
a0002c0002t0001g0015
a0002c0002t0001g0020
a0002c0002t0001g0042
a0002c0002t0001g0044
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0074
a0002c0002t0001g0085
a0002c0002t0001g0098
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0119
a0002c0002t0001g0124
a0002c0002t0001g0129
a0002c0002t0001g0208
a0002c0002t0002g0154
a0002c0002t0002g0159
a0002c0002t0002g0160
a0002c0002t0002g0181
a0002c0002t0002g0191
a0002c0002t0002g0216
a0002c0006t0001g0187
a0002c0010t0001g0010
a0003c0009t0001g0011
a0006c0011t0001g0139
a0008c0013t0001g0101
a0009c0014t0002g0075
a0013c0017t0001g0111
 79 HG00099.hp2
HG00544.hp1
HG00544.hp2
others(76): Show 
HG00099.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp2
HG00639.hp1
HG00639.hp2
HG00735.hp1
HG00741.hp1
HG00741.hp2
HG01071.hp2
HG01123.hp1
HG01168.hp2
HG01256.hp1
HG01257.hp1
HG01257.hp2
HG01346.hp1
HG01361.hp1
HG01516.hp1
HG01517.hp1
HG01517.hp2
HG01891.hp1
HG01891.hp2
HG01975.hp1
HG01981.hp1
HG01981.hp2
HG02109.hp1
HG02148.hp1
HG02155.hp1
HG02257.hp2
HG02280.hp1
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02559.hp1
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02683.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp2
HG02818.hp2
HG02896.hp2
HG02922.hp2
HG02976.hp2
HG03195.hp1
HG03239.hp1
HG03453.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03704.hp1
HG03831.hp1
HG03834.hp2
HG06807.hp2
NA18906.hp2
NA18939.hp1
NA18942.hp2
NA18947.hp2
NA18950.hp1
NA18951.hp2
NA18956.hp2
NA18974.hp1
NA18977.hp2
NA19002.hp1
NA19010.hp1
NA19030.hp2
NA19064.hp2
NA19065.hp1
NA19074.hp2
NA19081.hp2
NA19085.hp1
NA19240.hp1
NA20300.hp1
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.444-903G>A
c.444-903G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 4/8 chrX 1628918
chrX:1628930
C
C
 A
A
 1 a0001c0001t0001g0158
a0001c0001t0001g0158
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.444-891C>A
c.444-891C>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 4/8 chrX 1628930
chrX:1628932
T
T
 TTC
TTC
 4 a0002c0002t0001g0015
a0002c0002t0002g0160
a0002c0010t0001g0010
others(1): Show 
a0002c0002t0001g0015
a0002c0002t0002g0160
a0002c0010t0001g0010
a0006c0011t0001g0139
 4 HG02559.hp2
HG02622.hp2
HG02896.hp2
others(1): Show 
HG02559.hp2
HG02622.hp2
HG02896.hp2
HG03516.hp2
 intron_variant MODIFIER c.444-879_444-878dup
others(2): Show 
c.444-879_444-878dupCT
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 4/8 INFO_REALIGN_3_PRIME chrX 1628932
chrX:1628942
CTTTCTTT
others(3): Show 
CTTTCTTTCTT
 C
C
 73 a0001c0001t0001g0001
a0001c0001t0001g0006
a0001c0001t0001g0016
others(70): Show 
a0001c0001t0001g0001
a0001c0001t0001g0006
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0019
a0001c0001t0001g0021
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0037
a0001c0001t0001g0043
a0001c0001t0001g0053
a0001c0001t0001g0061
a0001c0001t0001g0076
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0086
a0001c0001t0001g0097
a0001c0001t0001g0100
a0001c0001t0001g0102
a0001c0001t0001g0103
a0001c0001t0001g0114
a0001c0001t0001g0138
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0209
a0001c0001t0001g0212
a0001c0001t0001g0214
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0002g0143
a0001c0001t0002g0144
a0001c0001t0002g0145
a0001c0001t0002g0152
a0001c0001t0002g0180
a0001c0001t0002g0190
a0001c0001t0002g0196
a0001c0001t0002g0218
a0001c0001t0003g0090
a0001c0003t0001g0013
a0001c0003t0001g0062
a0001c0003t0001g0080
a0001c0003t0001g0091
a0001c0003t0001g0107
a0001c0003t0002g0155
a0002c0002t0001g0002
a0002c0002t0001g0020
a0002c0002t0001g0042
a0002c0002t0001g0044
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0074
a0002c0002t0001g0085
a0002c0002t0001g0098
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0119
a0002c0002t0001g0124
a0002c0002t0001g0129
a0002c0002t0001g0208
a0002c0002t0002g0154
a0002c0002t0002g0159
a0002c0002t0002g0181
a0002c0002t0002g0191
a0002c0002t0002g0216
a0002c0006t0001g0187
a0003c0009t0001g0011
a0008c0013t0001g0101
a0009c0014t0002g0075
a0013c0017t0001g0111
 74 HG00099.hp2
HG00544.hp1
HG00544.hp2
others(71): Show 
HG00099.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp2
HG00639.hp2
HG00735.hp1
HG00741.hp1
HG00741.hp2
HG01071.hp2
HG01123.hp1
HG01168.hp2
HG01256.hp1
HG01257.hp1
HG01257.hp2
HG01346.hp1
HG01361.hp1
HG01516.hp1
HG01517.hp1
HG01517.hp2
HG01891.hp1
HG01891.hp2
HG01975.hp1
HG01981.hp1
HG01981.hp2
HG02109.hp1
HG02148.hp1
HG02155.hp1
HG02257.hp2
HG02280.hp1
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02559.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02683.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp2
HG02818.hp2
HG02922.hp2
HG02976.hp2
HG03195.hp1
HG03239.hp1
HG03453.hp1
HG03516.hp1
HG03540.hp1
HG03704.hp1
HG03831.hp1
HG03834.hp2
HG06807.hp2
NA18906.hp2
NA18939.hp1
NA18942.hp2
NA18947.hp2
NA18950.hp1
NA18951.hp2
NA18956.hp2
NA18974.hp1
NA18977.hp2
NA19002.hp1
NA19010.hp1
NA19030.hp2
NA19064.hp2
NA19065.hp1
NA19074.hp2
NA19081.hp2
NA19085.hp1
NA19240.hp1
NA20300.hp1
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.444-877_444-868del
others(10): Show 
c.444-877_444-868delTTCTTTCTTT
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 4/8 INFO_REALIGN_3_PRIME chrX 1628942
chrX:1628944
T
T
 C
C
 83 a0001c0001t0001g0005
a0001c0001t0001g0008
a0001c0001t0001g0014
others(80): Show 
a0001c0001t0001g0005
a0001c0001t0001g0008
a0001c0001t0001g0014
a0001c0001t0001g0028
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0077
a0001c0001t0001g0081
a0001c0001t0001g0121
a0001c0001t0001g0128
a0001c0001t0001g0206
a0001c0001t0001g0215
a0001c0001t0002g0039
a0001c0001t0002g0132
a0001c0001t0002g0140
a0001c0001t0002g0147
a0001c0001t0002g0167
a0001c0001t0002g0168
a0001c0001t0002g0170
a0001c0001t0002g0200
a0001c0001t0002g0201
a0001c0001t0005g0165
a0001c0003t0001g0022
a0001c0003t0001g0023
a0001c0003t0001g0050
a0001c0003t0001g0051
a0001c0003t0001g0171
a0001c0003t0002g0142
a0001c0003t0002g0150
a0002c0002t0001g0003
a0002c0002t0001g0009
a0002c0002t0001g0026
a0002c0002t0001g0031
a0002c0002t0001g0066
a0002c0002t0001g0073
a0002c0002t0001g0078
a0002c0002t0001g0087
a0002c0002t0001g0088
a0002c0002t0001g0089
a0002c0002t0001g0095
a0002c0002t0001g0099
a0002c0002t0001g0108
a0002c0002t0001g0125
a0002c0002t0001g0127
a0002c0002t0001g0130
a0002c0002t0001g0151
a0002c0002t0001g0185
a0002c0002t0001g0189
a0002c0002t0001g0220
a0002c0002t0002g0096
a0002c0002t0002g0112
a0002c0002t0002g0131
a0002c0002t0002g0136
a0002c0002t0002g0146
a0002c0002t0002g0156
a0002c0002t0002g0166
a0002c0002t0002g0172
a0002c0002t0002g0178
a0002c0002t0002g0183
a0002c0002t0002g0186
a0002c0002t0002g0188
a0002c0002t0002g0207
a0002c0002t0002g0213
a0002c0002t0002g0217
a0004c0004t0001g0169
a0005c0016t0001g0045
a0007c0012t0001g0109
a0010c0015t0002g0179
a0011c0008t0001g0034
a0012c0007t0001g0036
a0014c0018t0001g0060
 83 HG00099.hp1
HG00323.hp1
HG00323.hp2
others(80): Show 
HG00099.hp1
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00639.hp1
HG00733.hp1
HG00733.hp2
HG01070.hp1
HG01071.hp1
HG01081.hp1
HG01168.hp1
HG01175.hp1
HG01175.hp2
HG01346.hp2
HG01496.hp1
HG01884.hp1
HG01975.hp2
HG01978.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02080.hp1
HG02080.hp2
HG02148.hp2
HG02155.hp2
HG02165.hp1
HG02273.hp1
HG02273.hp2
HG02293.hp2
HG02523.hp2
HG02683.hp1
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG03041.hp1
HG03041.hp2
HG03453.hp2
HG03486.hp1
HG03491.hp1
HG03669.hp1
HG03927.hp1
HG04184.hp2
HG04204.hp2
HG06807.hp1
NA18906.hp1
NA18941.hp1
NA18949.hp2
NA18951.hp1
NA18954.hp1
NA18954.hp2
NA18963.hp1
NA18963.hp2
NA18968.hp1
NA18973.hp1
NA18975.hp1
NA18975.hp2
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18988.hp1
NA18992.hp1
NA18998.hp1
NA18999.hp1
NA18999.hp2
NA19003.hp1
NA19003.hp2
NA19010.hp2
NA19011.hp1
NA19030.hp1
NA19057.hp1
NA19064.hp1
NA19072.hp2
NA19074.hp1
NA19077.hp1
NA19077.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19082.hp1
NA20129.hp1
NA20129.hp2
NA21309.hp2
 intron_variant MODIFIER c.444-877T>C
c.444-877T>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 4/8 chrX 1628944
chrX:1628955
C
C
 T
T
 73 a0001c0001t0001g0001
a0001c0001t0001g0006
a0001c0001t0001g0016
others(70): Show 
a0001c0001t0001g0001
a0001c0001t0001g0006
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0019
a0001c0001t0001g0021
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0037
a0001c0001t0001g0043
a0001c0001t0001g0053
a0001c0001t0001g0061
a0001c0001t0001g0076
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0086
a0001c0001t0001g0097
a0001c0001t0001g0100
a0001c0001t0001g0102
a0001c0001t0001g0103
a0001c0001t0001g0114
a0001c0001t0001g0138
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0209
a0001c0001t0001g0212
a0001c0001t0001g0214
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0002g0143
a0001c0001t0002g0144
a0001c0001t0002g0145
a0001c0001t0002g0152
a0001c0001t0002g0180
a0001c0001t0002g0190
a0001c0001t0002g0196
a0001c0001t0002g0218
a0001c0001t0003g0090
a0001c0003t0001g0013
a0001c0003t0001g0062
a0001c0003t0001g0080
a0001c0003t0001g0091
a0001c0003t0001g0107
a0001c0003t0002g0155
a0002c0002t0001g0002
a0002c0002t0001g0020
a0002c0002t0001g0042
a0002c0002t0001g0044
a0002c0002t0001g0054
a0002c0002t0001g0069
a0002c0002t0001g0074
a0002c0002t0001g0085
a0002c0002t0001g0098
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0119
a0002c0002t0001g0124
a0002c0002t0001g0129
a0002c0002t0001g0208
a0002c0002t0002g0154
a0002c0002t0002g0159
a0002c0002t0002g0181
a0002c0002t0002g0191
a0002c0002t0002g0216
a0002c0006t0001g0187
a0003c0009t0001g0011
a0008c0013t0001g0101
a0009c0014t0002g0075
a0013c0017t0001g0111
 74 HG00099.hp2
HG00544.hp1
HG00544.hp2
others(71): Show 
HG00099.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp2
HG00639.hp2
HG00735.hp1
HG00741.hp1
HG00741.hp2
HG01071.hp2
HG01123.hp1
HG01168.hp2
HG01256.hp1
HG01257.hp1
HG01257.hp2
HG01346.hp1
HG01361.hp1
HG01516.hp1
HG01517.hp1
HG01517.hp2
HG01891.hp1
HG01891.hp2
HG01975.hp1
HG01981.hp1
HG01981.hp2
HG02109.hp1
HG02148.hp1
HG02155.hp1
HG02257.hp2
HG02280.hp1
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02559.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02683.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp2
HG02818.hp2
HG02922.hp2
HG02976.hp2
HG03195.hp1
HG03239.hp1
HG03453.hp1
HG03516.hp1
HG03540.hp1
HG03704.hp1
HG03831.hp1
HG03834.hp2
HG06807.hp2
NA18906.hp2
NA18939.hp1
NA18942.hp2
NA18947.hp2
NA18950.hp1
NA18951.hp2
NA18956.hp2
NA18974.hp1
NA18977.hp2
NA19002.hp1
NA19010.hp1
NA19030.hp2
NA19064.hp2
NA19065.hp1
NA19074.hp2
NA19081.hp2
NA19085.hp1
NA19240.hp1
NA20300.hp1
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.444-866C>T
c.444-866C>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 4/8 chrX 1628955
chrX:1628968
T
T
 C
C
 1 a0002c0002t0002g0146
a0002c0002t0002g0146
 1 HG02004.hp2
HG02004.hp2
 intron_variant MODIFIER c.444-853T>C
c.444-853T>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 4/8 chrX 1628968
chrX:1629006
TCTGC
TCTGC
 T
T
 1 a0009c0014t0002g0075
a0009c0014t0002g0075
 1 HG02683.hp2
HG02683.hp2
 intron_variant MODIFIER c.444-808_444-805del
others(4): Show 
c.444-808_444-805delGCCT
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 4/8 INFO_REALIGN_3_PRIME chrX 1629006
chrX:1629036
C
C
 T
T
 15 a0001c0001t0001g0006
a0001c0001t0001g0016
a0001c0001t0001g0043
others(12): Show 
a0001c0001t0001g0006
a0001c0001t0001g0016
a0001c0001t0001g0043
a0001c0001t0001g0076
a0001c0001t0001g0204
a0001c0001t0002g0135
a0001c0001t0003g0090
a0001c0003t0001g0091
a0001c0003t0001g0107
a0002c0002t0001g0044
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0129
a0002c0002t0002g0159
a0002c0002t0002g0191
 15 HG00597.hp2
HG00735.hp1
HG01256.hp1
others(12): Show 
HG00597.hp2
HG00735.hp1
HG01256.hp1
HG01516.hp1
HG01517.hp1
HG01517.hp2
HG02155.hp1
HG02615.hp2
HG02630.hp1
HG02818.hp2
HG02922.hp2
HG02976.hp2
HG03239.hp1
HG03516.hp1
HG03540.hp1
 intron_variant MODIFIER c.444-785C>T
c.444-785C>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 4/8 chrX 1629036
chrX:1629038
C
C
 CCTTT
CCTTT
 5 a0001c0001t0001g0001
a0001c0001t0001g0205
a0001c0001t0001g0209
others(2): Show 
a0001c0001t0001g0001
a0001c0001t0001g0205
a0001c0001t0001g0209
a0001c0001t0002g0190
a0002c0002t0001g0002
 6 HG02559.hp1
HG02723.hp1
HG02723.hp2
others(3): Show 
HG02559.hp1
HG02723.hp1
HG02723.hp2
HG02809.hp2
HG03453.hp1
NA19240.hp1
 intron_variant MODIFIER c.444-774_444-771dup
others(4): Show 
c.444-774_444-771dupCTTT
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 4/8 INFO_REALIGN_3_PRIME chrX 1629038
chrX:1629038
C
C
 T
T
 15 a0001c0001t0001g0006
a0001c0001t0001g0016
a0001c0001t0001g0043
others(12): Show 
a0001c0001t0001g0006
a0001c0001t0001g0016
a0001c0001t0001g0043
a0001c0001t0001g0076
a0001c0001t0001g0204
a0001c0001t0002g0135
a0001c0001t0003g0090
a0001c0003t0001g0091
a0001c0003t0001g0107
a0002c0002t0001g0044
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0129
a0002c0002t0002g0159
a0002c0002t0002g0191
 15 HG00597.hp2
HG00735.hp1
HG01256.hp1
others(12): Show 
HG00597.hp2
HG00735.hp1
HG01256.hp1
HG01516.hp1
HG01517.hp1
HG01517.hp2
HG02155.hp1
HG02615.hp2
HG02630.hp1
HG02818.hp2
HG02922.hp2
HG02976.hp2
HG03239.hp1
HG03516.hp1
HG03540.hp1
 intron_variant MODIFIER c.444-783C>T
c.444-783C>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 4/8 chrX 1629038
chrX:1629082
TTA
TTA
 T
T
 122 a0001c0001t0001g0001
a0001c0001t0001g0006
a0001c0001t0001g0016
others(119): Show 
a0001c0001t0001g0001
a0001c0001t0001g0006
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0019
a0001c0001t0001g0021
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0037
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0046
a0001c0001t0001g0053
a0001c0001t0001g0061
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0086
a0001c0001t0001g0097
a0001c0001t0001g0100
a0001c0001t0001g0102
a0001c0001t0001g0103
a0001c0001t0001g0114
a0001c0001t0001g0138
a0001c0001t0001g0158
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0209
a0001c0001t0001g0212
a0001c0001t0001g0214
a0001c0001t0002g0132
a0001c0001t0002g0135
a0001c0001t0002g0140
a0001c0001t0002g0143
a0001c0001t0002g0144
a0001c0001t0002g0145
a0001c0001t0002g0152
a0001c0001t0002g0180
a0001c0001t0002g0184
a0001c0001t0002g0190
a0001c0001t0002g0196
a0001c0001t0002g0218
a0001c0001t0003g0090
a0001c0003t0001g0013
a0001c0003t0001g0050
a0001c0003t0001g0062
a0001c0003t0001g0080
a0001c0003t0001g0091
a0001c0003t0001g0107
a0001c0003t0002g0142
a0001c0003t0002g0150
a0001c0003t0002g0155
a0002c0002t0001g0002
a0002c0002t0001g0003
a0002c0002t0001g0020
a0002c0002t0001g0026
a0002c0002t0001g0042
a0002c0002t0001g0044
a0002c0002t0001g0054
a0002c0002t0001g0066
a0002c0002t0001g0069
a0002c0002t0001g0073
a0002c0002t0001g0078
a0002c0002t0001g0085
a0002c0002t0001g0087
a0002c0002t0001g0088
a0002c0002t0001g0095
a0002c0002t0001g0098
a0002c0002t0001g0099
a0002c0002t0001g0108
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0119
a0002c0002t0001g0124
a0002c0002t0001g0125
a0002c0002t0001g0127
a0002c0002t0001g0129
a0002c0002t0001g0130
a0002c0002t0001g0151
a0002c0002t0001g0185
a0002c0002t0001g0189
a0002c0002t0001g0208
a0002c0002t0002g0096
a0002c0002t0002g0112
a0002c0002t0002g0131
a0002c0002t0002g0136
a0002c0002t0002g0146
a0002c0002t0002g0154
a0002c0002t0002g0156
a0002c0002t0002g0159
a0002c0002t0002g0160
a0002c0002t0002g0166
a0002c0002t0002g0172
a0002c0002t0002g0181
a0002c0002t0002g0183
a0002c0002t0002g0186
a0002c0002t0002g0188
a0002c0002t0002g0191
a0002c0002t0002g0207
a0002c0002t0002g0213
a0002c0002t0002g0216
a0002c0006t0001g0187
a0002c0010t0001g0010
a0003c0005t0001g0004
a0003c0009t0001g0011
a0004c0004t0001g0169
a0005c0016t0001g0045
a0006c0011t0001g0139
a0007c0012t0001g0109
a0008c0013t0001g0101
a0009c0014t0002g0075
a0010c0015t0002g0179
a0012c0007t0001g0036
a0013c0017t0001g0111
 123 HG00099.hp1
HG00099.hp2
HG00423.hp1
others(120): Show 
HG00099.hp1
HG00099.hp2
HG00423.hp1
HG00544.hp1
HG00544.hp2
HG00597.hp2
HG00639.hp2
HG00733.hp2
HG00735.hp1
HG00741.hp1
HG00741.hp2
HG01071.hp2
HG01081.hp1
HG01123.hp1
HG01168.hp1
HG01168.hp2
HG01256.hp1
HG01257.hp1
HG01257.hp2
HG01346.hp1
HG01361.hp1
HG01516.hp1
HG01517.hp1
HG01517.hp2
HG01891.hp1
HG01891.hp2
HG01975.hp1
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG02004.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02148.hp1
HG02155.hp1
HG02155.hp2
HG02257.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02559.hp1
HG02559.hp2
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02683.hp1
HG02683.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02922.hp2
HG02976.hp2
HG03195.hp1
HG03195.hp2
HG03239.hp1
HG03453.hp1
HG03486.hp1
HG03491.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03669.hp1
HG03704.hp1
HG03831.hp1
HG03834.hp2
HG03927.hp1
HG04184.hp2
HG04204.hp2
HG06807.hp2
NA18906.hp2
NA18939.hp1
NA18941.hp1
NA18942.hp2
NA18947.hp2
NA18949.hp2
NA18950.hp1
NA18951.hp1
NA18951.hp2
NA18954.hp2
NA18956.hp2
NA18963.hp1
NA18968.hp1
NA18973.hp1
NA18974.hp1
NA18975.hp1
NA18977.hp2
NA18981.hp1
NA18992.hp1
NA18999.hp2
NA19002.hp1
NA19003.hp1
NA19003.hp2
NA19010.hp1
NA19010.hp2
NA19030.hp1
NA19030.hp2
NA19057.hp1
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19072.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp2
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19082.hp1
NA19085.hp1
NA19240.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.444-725_444-724del
others(2): Show 
c.444-725_444-724delAT
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 4/8 INFO_REALIGN_3_PRIME chrX 1629082
chrX:1629135
T
T
 C
C
 6 a0001c0001t0001g0001
a0001c0001t0001g0205
a0001c0001t0001g0209
others(3): Show 
a0001c0001t0001g0001
a0001c0001t0001g0205
a0001c0001t0001g0209
a0001c0001t0002g0190
a0002c0002t0001g0015
a0003c0009t0001g0011
 7 HG02559.hp1
HG02723.hp1
HG02723.hp2
others(4): Show 
HG02559.hp1
HG02723.hp1
HG02723.hp2
HG02809.hp2
HG02896.hp2
NA19030.hp2
NA19240.hp1
 intron_variant MODIFIER c.444-686T>C
c.444-686T>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 4/8 chrX 1629135
chrX:1629219
G
G
 T
T
 4 a0001c0001t0002g0144
a0001c0001t0002g0145
a0002c0002t0001g0069
others(1): Show 
a0001c0001t0002g0144
a0001c0001t0002g0145
a0002c0002t0001g0069
a0002c0002t0001g0208
 4 HG01891.hp1
HG02109.hp1
HG06807.hp2
others(1): Show 
HG01891.hp1
HG02109.hp1
HG06807.hp2
NA18906.hp2
 intron_variant MODIFIER c.444-602G>T
c.444-602G>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 4/8 chrX 1629219
chrX:1629260
C
C
 T
T
 1 a0002c0002t0002g0156
a0002c0002t0002g0156
 1 HG00423.hp1
HG00423.hp1
 intron_variant MODIFIER c.444-561C>T
c.444-561C>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 4/8 chrX 1629260
chrX:1629279
C
C
 T
T
 23 a0001c0001t0001g0007
a0001c0001t0001g0012
a0001c0001t0001g0072
others(20): Show 
a0001c0001t0001g0007
a0001c0001t0001g0012
a0001c0001t0001g0072
a0001c0001t0001g0118
a0001c0001t0001g0123
a0001c0001t0001g0204
a0001c0001t0002g0135
a0001c0001t0002g0144
a0001c0001t0002g0145
a0001c0001t0003g0090
a0001c0003t0001g0091
a0001c0003t0001g0107
a0001c0003t0002g0133
a0002c0002t0001g0044
a0002c0002t0001g0069
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0129
a0002c0002t0001g0208
a0002c0002t0002g0136
a0002c0002t0002g0159
a0002c0002t0002g0191
a0003c0005t0001g0202
 23 HG00597.hp2
HG01256.hp1
HG01516.hp1
others(20): Show 
HG00597.hp2
HG01256.hp1
HG01516.hp1
HG01517.hp1
HG01517.hp2
HG01891.hp1
HG02109.hp1
HG02109.hp2
HG02155.hp1
HG02257.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02809.hp1
HG02818.hp2
HG02922.hp1
HG03239.hp1
HG03453.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG06807.hp2
NA18906.hp2
 intron_variant MODIFIER c.444-542C>T
c.444-542C>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 4/8 chrX 1629279
chrX:1629312
G
G
 C
C
 62 a0001c0001t0001g0028
a0001c0001t0001g0040
a0001c0001t0001g0041
others(59): Show 
a0001c0001t0001g0028
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0046
a0001c0001t0001g0063
a0001c0001t0001g0077
a0001c0001t0001g0081
a0001c0001t0001g0097
a0001c0001t0001g0123
a0001c0001t0001g0204
a0001c0001t0001g0206
a0001c0001t0002g0120
a0001c0001t0002g0132
a0001c0001t0002g0135
a0001c0001t0002g0140
a0001c0001t0002g0200
a0001c0001t0003g0090
a0001c0003t0001g0030
a0001c0003t0001g0050
a0001c0003t0001g0062
a0001c0003t0001g0080
a0001c0003t0001g0115
a0001c0003t0002g0150
a0001c0003t0002g0155
a0002c0002t0001g0003
a0002c0002t0001g0026
a0002c0002t0001g0066
a0002c0002t0001g0073
a0002c0002t0001g0078
a0002c0002t0001g0087
a0002c0002t0001g0088
a0002c0002t0001g0095
a0002c0002t0001g0099
a0002c0002t0001g0108
a0002c0002t0001g0122
a0002c0002t0001g0125
a0002c0002t0001g0127
a0002c0002t0001g0130
a0002c0002t0001g0151
a0002c0002t0001g0185
a0002c0002t0001g0189
a0002c0002t0002g0096
a0002c0002t0002g0112
a0002c0002t0002g0131
a0002c0002t0002g0146
a0002c0002t0002g0156
a0002c0002t0002g0159
a0002c0002t0002g0160
a0002c0002t0002g0163
a0002c0002t0002g0166
a0002c0002t0002g0172
a0002c0002t0002g0178
a0002c0002t0002g0186
a0002c0002t0002g0188
a0002c0002t0002g0207
a0002c0002t0002g0213
a0004c0004t0001g0169
a0005c0016t0001g0045
a0007c0012t0001g0109
a0010c0015t0002g0179
a0012c0007t0001g0036
 62 HG00099.hp1
HG00423.hp1
HG00597.hp1
others(59): Show 
HG00099.hp1
HG00423.hp1
HG00597.hp1
HG00733.hp2
HG01081.hp1
HG01081.hp2
HG01168.hp1
HG01975.hp1
HG01978.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp2
HG02080.hp1
HG02080.hp2
HG02155.hp2
HG02273.hp2
HG02293.hp2
HG02615.hp2
HG02630.hp1
HG02683.hp1
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02976.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03669.hp1
HG03927.hp1
HG03927.hp2
HG04184.hp2
HG04204.hp2
NA18941.hp1
NA18941.hp2
NA18947.hp1
NA18949.hp2
NA18951.hp1
NA18954.hp2
NA18963.hp1
NA18968.hp1
NA18973.hp1
NA18975.hp1
NA18977.hp2
NA18981.hp1
NA18992.hp1
NA18999.hp1
NA18999.hp2
NA19003.hp1
NA19003.hp2
NA19010.hp2
NA19030.hp1
NA19057.hp1
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19072.hp2
NA19074.hp1
NA19077.hp2
NA19080.hp2
NA19081.hp1
NA19082.hp1
 intron_variant MODIFIER c.444-509G>C
c.444-509G>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 4/8 chrX 1629312
chrX:1629324
T
T
 TG
TG
 2 a0001c0001t0001g0037
a0001c0003t0001g0091
a0001c0001t0001g0037
a0001c0003t0001g0091
 2 HG00597.hp2
HG01981.hp2
HG00597.hp2
HG01981.hp2
 intron_variant MODIFIER c.444-489dupG
c.444-489dupG
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 4/8 INFO_REALIGN_3_PRIME chrX 1629324
chrX:1629327
G
G
 T
T
 2 a0001c0001t0002g0190
a0002c0002t0001g0015
a0001c0001t0002g0190
a0002c0002t0001g0015
 2 HG02723.hp2
HG02896.hp2
HG02723.hp2
HG02896.hp2
 intron_variant MODIFIER c.444-494G>T
c.444-494G>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 4/8 chrX 1629327
chrX:1629328
G
G
 A
A
 8 a0001c0001t0001g0008
a0001c0001t0001g0014
a0001c0001t0001g0071
others(5): Show 
a0001c0001t0001g0008
a0001c0001t0001g0014
a0001c0001t0001g0071
a0001c0001t0001g0121
a0001c0001t0001g0215
a0001c0003t0001g0022
a0002c0002t0001g0009
a0002c0010t0001g0010
 8 HG01884.hp1
HG02622.hp2
HG02886.hp1
others(5): Show 
HG01884.hp1
HG02622.hp2
HG02886.hp1
HG03041.hp1
HG03041.hp2
HG06807.hp1
NA18906.hp1
NA20129.hp1
 intron_variant MODIFIER c.444-493G>A
c.444-493G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 4/8 chrX 1629328
chrX:1629339
AG
AG
 A
A
 1 a0001c0001t0002g0161
a0001c0001t0002g0161
 1 NA19057.hp2
NA19057.hp2
 intron_variant MODIFIER c.444-480delG
c.444-480delG
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 4/8 INFO_REALIGN_3_PRIME chrX 1629339
chrX:1629381
C
C
 T
T
 49 a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0046
others(46): Show 
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0046
a0001c0001t0001g0077
a0001c0001t0001g0081
a0001c0001t0001g0206
a0001c0001t0002g0132
a0001c0001t0002g0140
a0001c0001t0002g0144
a0001c0001t0002g0145
a0001c0003t0001g0050
a0001c0003t0001g0091
a0002c0002t0001g0003
a0002c0002t0001g0066
a0002c0002t0001g0069
a0002c0002t0001g0073
a0002c0002t0001g0078
a0002c0002t0001g0087
a0002c0002t0001g0088
a0002c0002t0001g0095
a0002c0002t0001g0099
a0002c0002t0001g0108
a0002c0002t0001g0122
a0002c0002t0001g0125
a0002c0002t0001g0127
a0002c0002t0001g0130
a0002c0002t0001g0151
a0002c0002t0001g0185
a0002c0002t0001g0189
a0002c0002t0001g0208
a0002c0002t0002g0096
a0002c0002t0002g0112
a0002c0002t0002g0131
a0002c0002t0002g0146
a0002c0002t0002g0156
a0002c0002t0002g0160
a0002c0002t0002g0166
a0002c0002t0002g0172
a0002c0002t0002g0183
a0002c0002t0002g0186
a0002c0002t0002g0188
a0002c0002t0002g0207
a0002c0002t0002g0213
a0004c0004t0001g0169
a0005c0016t0001g0045
a0006c0011t0001g0139
a0007c0012t0001g0109
a0010c0015t0002g0179
a0012c0007t0001g0036
 49 HG00099.hp1
HG00423.hp1
HG00597.hp2
others(46): Show 
HG00099.hp1
HG00423.hp1
HG00597.hp2
HG00733.hp2
HG01081.hp1
HG01168.hp1
HG01891.hp1
HG01993.hp1
HG02004.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02155.hp2
HG02293.hp2
HG02559.hp2
HG02683.hp1
HG02818.hp1
HG02886.hp2
HG03516.hp2
HG03540.hp2
HG03669.hp1
HG03927.hp1
HG04184.hp2
HG04204.hp2
HG06807.hp2
NA18906.hp2
NA18941.hp1
NA18949.hp2
NA18951.hp1
NA18954.hp2
NA18963.hp1
NA18968.hp1
NA18973.hp1
NA18975.hp1
NA18981.hp1
NA18992.hp1
NA18999.hp2
NA19003.hp1
NA19003.hp2
NA19030.hp1
NA19057.hp1
NA19064.hp1
NA19072.hp2
NA19074.hp1
NA19077.hp2
NA19080.hp2
NA19081.hp1
NA19082.hp1
NA20129.hp2
 intron_variant MODIFIER c.444-440C>T
c.444-440C>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 4/8 chrX 1629381
chrX:1629427
C
C
 CT
CT
 1 a0001c0001t0002g0161
a0001c0001t0002g0161
 1 NA19057.hp2
NA19057.hp2
 intron_variant MODIFIER c.444-393dupT
c.444-393dupT
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 4/8 INFO_REALIGN_3_PRIME chrX 1629427
chrX:1629474
G
G
 C
C
 2 a0001c0001t0002g0190
a0009c0014t0002g0075
a0001c0001t0002g0190
a0009c0014t0002g0075
 2 HG02683.hp2
HG02723.hp2
HG02683.hp2
HG02723.hp2
 intron_variant MODIFIER c.444-347G>C
c.444-347G>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 4/8 chrX 1629474
chrX:1629512
T
T
 TG
TG
 1 a0001c0003t0002g0182
a0001c0003t0002g0182
 1 NA18985.hp1
NA18985.hp1
 intron_variant MODIFIER c.444-304dupG
c.444-304dupG
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 4/8 INFO_REALIGN_3_PRIME chrX 1629512
chrX:1629523
A
A
 G
G
 4 a0001c0001t0001g0017
a0001c0001t0001g0019
a0001c0001t0001g0021
others(1): Show 
a0001c0001t0001g0017
a0001c0001t0001g0019
a0001c0001t0001g0021
a0002c0002t0001g0020
 4 HG00741.hp2
HG02280.hp1
HG03195.hp1
others(1): Show 
HG00741.hp2
HG02280.hp1
HG03195.hp1
NA20300.hp1
 intron_variant MODIFIER c.444-298A>G
c.444-298A>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 4/8 chrX 1629523
chrX:1629549
T
T
 C
C
 1 a0001c0001t0001g0158
a0001c0001t0001g0158
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.444-272T>C
c.444-272T>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 4/8 chrX 1629549
chrX:1629554
A
A
 C
C
 1 a0001c0001t0001g0158
a0001c0001t0001g0158
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.444-267A>C
c.444-267A>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 4/8 chrX 1629554
chrX:1629555
C
C
 A
A
 11 a0001c0001t0001g0043
a0001c0001t0001g0128
a0001c0001t0002g0135
others(8): Show 
a0001c0001t0001g0043
a0001c0001t0001g0128
a0001c0001t0002g0135
a0001c0001t0003g0090
a0001c0003t0001g0091
a0002c0002t0001g0044
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0129
a0002c0002t0002g0188
a0002c0002t0002g0191
 11 HG00597.hp2
HG01256.hp1
HG01516.hp1
others(8): Show 
HG00597.hp2
HG01256.hp1
HG01516.hp1
HG01517.hp1
HG01517.hp2
HG01975.hp2
HG02615.hp2
HG02818.hp2
HG02976.hp2
HG03239.hp1
HG03669.hp1
 intron_variant MODIFIER c.444-266C>A
c.444-266C>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 4/8 chrX 1629555
chrX:1629601
G
G
 A
A
 3 a0001c0001t0001g0121
a0001c0001t0002g0144
a0001c0001t0002g0145
a0001c0001t0001g0121
a0001c0001t0002g0144
a0001c0001t0002g0145
 3 HG03041.hp2
HG06807.hp2
NA18906.hp2
HG03041.hp2
HG06807.hp2
NA18906.hp2
 intron_variant MODIFIER c.444-220G>A
c.444-220G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 4/8 chrX 1629601
chrX:1629688
A
A
 C
C
 82 a0001c0001t0001g0008
a0001c0001t0001g0014
a0001c0001t0001g0040
others(79): Show 
a0001c0001t0001g0008
a0001c0001t0001g0014
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0046
a0001c0001t0001g0061
a0001c0001t0001g0064
a0001c0001t0001g0068
a0001c0001t0001g0071
a0001c0001t0001g0077
a0001c0001t0001g0079
a0001c0001t0001g0081
a0001c0001t0001g0121
a0001c0001t0001g0128
a0001c0001t0001g0138
a0001c0001t0001g0158
a0001c0001t0001g0174
a0001c0001t0001g0204
a0001c0001t0001g0212
a0001c0001t0001g0215
a0001c0001t0002g0132
a0001c0001t0002g0135
a0001c0001t0002g0140
a0001c0001t0002g0144
a0001c0001t0002g0145
a0001c0001t0002g0201
a0001c0001t0003g0090
a0001c0003t0001g0022
a0001c0003t0001g0062
a0001c0003t0001g0091
a0002c0002t0001g0003
a0002c0002t0001g0009
a0002c0002t0001g0020
a0002c0002t0001g0026
a0002c0002t0001g0031
a0002c0002t0001g0044
a0002c0002t0001g0055
a0002c0002t0001g0066
a0002c0002t0001g0069
a0002c0002t0001g0073
a0002c0002t0001g0078
a0002c0002t0001g0087
a0002c0002t0001g0088
a0002c0002t0001g0095
a0002c0002t0001g0099
a0002c0002t0001g0108
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0122
a0002c0002t0001g0125
a0002c0002t0001g0127
a0002c0002t0001g0129
a0002c0002t0001g0130
a0002c0002t0001g0151
a0002c0002t0001g0185
a0002c0002t0001g0189
a0002c0002t0001g0208
a0002c0002t0002g0096
a0002c0002t0002g0112
a0002c0002t0002g0131
a0002c0002t0002g0146
a0002c0002t0002g0156
a0002c0002t0002g0159
a0002c0002t0002g0160
a0002c0002t0002g0162
a0002c0002t0002g0163
a0002c0002t0002g0166
a0002c0002t0002g0172
a0002c0002t0002g0178
a0002c0002t0002g0183
a0002c0002t0002g0186
a0002c0002t0002g0188
a0002c0002t0002g0207
a0002c0002t0002g0213
a0002c0010t0001g0010
a0003c0005t0001g0004
a0004c0004t0001g0169
a0005c0016t0001g0045
a0006c0011t0001g0139
a0007c0012t0001g0109
a0010c0015t0002g0179
a0012c0007t0001g0036
 82 HG00099.hp1
HG00423.hp1
HG00438.hp1
others(79): Show 
HG00099.hp1
HG00423.hp1
HG00438.hp1
HG00597.hp1
HG00597.hp2
HG00733.hp2
HG01081.hp1
HG01168.hp1
HG01256.hp1
HG01346.hp2
HG01496.hp1
HG01516.hp1
HG01517.hp1
HG01884.hp1
HG01891.hp1
HG01891.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02148.hp2
HG02155.hp2
HG02273.hp2
HG02280.hp1
HG02293.hp2
HG02451.hp1
HG02559.hp2
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02683.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03195.hp2
HG03239.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03669.hp1
HG03927.hp1
HG04204.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18941.hp1
NA18942.hp1
NA18949.hp2
NA18954.hp2
NA18955.hp1
NA18963.hp1
NA18968.hp1
NA18975.hp1
NA18981.hp1
NA18992.hp1
NA18998.hp2
NA18999.hp2
NA19003.hp1
NA19003.hp2
NA19030.hp1
NA19057.hp1
NA19064.hp1
NA19072.hp2
NA19074.hp1
NA19077.hp2
NA19080.hp2
NA19081.hp1
NA19082.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp2
 intron_variant MODIFIER c.444-133A>C
c.444-133A>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 4/8 chrX 1629688
chrX:1629773
A
A
 AG
AG
 1 a0001c0001t0002g0161
a0001c0001t0002g0161
 1 NA19057.hp2
NA19057.hp2
 intron_variant MODIFIER c.444-48_444-47insG
c.444-48_444-47insG
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 4/8 chrX 1629773
chrX:1629803
C
C
 T
T
 3 a0002c0002t0001g0122
a0002c0002t0001g0221
a0002c0002t0002g0160
a0002c0002t0001g0122
a0002c0002t0001g0221
a0002c0002t0002g0160
 3 HG01070.hp2
HG03516.hp2
HG03540.hp2
HG01070.hp2
HG03516.hp2
HG03540.hp2
 intron_variant MODIFIER c.444-18C>T
c.444-18C>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 4/8 chrX 1629803
chrX:1629807
G
G
 C
C
 1 a0002c0002t0002g0172
a0002c0002t0002g0172
 1 NA19057.hp1
NA19057.hp1
 intron_variant MODIFIER c.444-14G>C
c.444-14G>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 4/8 chrX 1629807
chrX:1629946
A
A
 AC
AC
 1 a0001c0001t0001g0058
a0001c0001t0001g0058
 1 NA18981.hp2
NA18981.hp2
 intron_variant MODIFIER c.562+11dupC
c.562+11dupC
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 5/8 INFO_REALIGN_3_PRIME chrX 1629946
chrX:1630000
G
G
 A
A
 1 a0001c0001t0001g0016
a0001c0001t0001g0016
 1 HG02922.hp2
HG02922.hp2
 intron_variant MODIFIER c.562+61G>A
c.562+61G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 5/8 chrX 1630000
chrX:1630017
T
T
 C
C
 46 a0001c0001t0001g0040
a0001c0001t0001g0077
a0001c0001t0001g0079
others(43): Show 
a0001c0001t0001g0040
a0001c0001t0001g0077
a0001c0001t0001g0079
a0001c0001t0001g0081
a0001c0001t0001g0097
a0001c0001t0001g0174
a0001c0001t0002g0132
a0001c0003t0001g0062
a0001c0003t0001g0080
a0001c0003t0002g0150
a0001c0003t0002g0155
a0002c0002t0001g0026
a0002c0002t0001g0052
a0002c0002t0001g0055
a0002c0002t0001g0066
a0002c0002t0001g0073
a0002c0002t0001g0078
a0002c0002t0001g0087
a0002c0002t0001g0088
a0002c0002t0001g0095
a0002c0002t0001g0099
a0002c0002t0001g0108
a0002c0002t0001g0125
a0002c0002t0001g0126
a0002c0002t0001g0127
a0002c0002t0001g0129
a0002c0002t0001g0151
a0002c0002t0001g0185
a0002c0002t0001g0222
a0002c0002t0002g0096
a0002c0002t0002g0112
a0002c0002t0002g0131
a0002c0002t0002g0146
a0002c0002t0002g0162
a0002c0002t0002g0163
a0002c0002t0002g0166
a0002c0002t0002g0172
a0002c0002t0002g0178
a0002c0002t0002g0183
a0002c0002t0002g0186
a0002c0002t0002g0207
a0002c0002t0002g0213
a0002c0006t0001g0187
a0004c0004t0001g0169
a0007c0012t0001g0109
a0012c0007t0001g0036
 46 HG00099.hp1
HG00438.hp1
HG00544.hp2
others(43): Show 
HG00099.hp1
HG00438.hp1
HG00544.hp2
HG00597.hp1
HG00733.hp2
HG01081.hp1
HG01168.hp1
HG01975.hp1
HG01978.hp2
HG02004.hp2
HG02080.hp1
HG02080.hp2
HG02155.hp2
HG02273.hp2
HG02293.hp2
HG02683.hp1
HG03239.hp1
HG03239.hp2
HG03927.hp1
HG04204.hp2
NA18939.hp2
NA18941.hp1
NA18942.hp1
NA18954.hp2
NA18955.hp1
NA18963.hp1
NA18968.hp1
NA18975.hp1
NA18977.hp2
NA18981.hp1
NA18992.hp1
NA18998.hp2
NA18999.hp2
NA19003.hp1
NA19010.hp2
NA19057.hp1
NA19062.hp1
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19074.hp1
NA19077.hp2
NA19080.hp2
NA19081.hp1
NA19082.hp1
NA20129.hp2
 intron_variant MODIFIER c.562+78T>C
c.562+78T>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 5/8 chrX 1630017
chrX:1630060
T
T
 TA
TA
 1 a0001c0001t0002g0161
a0001c0001t0002g0161
 1 NA19057.hp2
NA19057.hp2
 intron_variant MODIFIER c.562+121_562+122ins
others(1): Show 
c.562+121_562+122insA
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 5/8 chrX 1630060
chrX:1630098
G
G
 C
C
 1 a0001c0003t0002g0133
a0001c0003t0002g0133
 1 HG03486.hp2
HG03486.hp2
 intron_variant MODIFIER c.562+159G>C
c.562+159G>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 5/8 chrX 1630098
chrX:1630129
G
G
 GT
GT
 1 a0001c0001t0002g0161
a0001c0001t0002g0161
 1 NA19057.hp2
NA19057.hp2
 intron_variant MODIFIER c.562+193dupT
c.562+193dupT
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 5/8 INFO_REALIGN_3_PRIME chrX 1630129
chrX:1630144
C
C
 CT
CT
 46 a0001c0001t0001g0040
a0001c0001t0001g0077
a0001c0001t0001g0079
others(43): Show 
a0001c0001t0001g0040
a0001c0001t0001g0077
a0001c0001t0001g0079
a0001c0001t0001g0081
a0001c0001t0001g0097
a0001c0001t0001g0174
a0001c0001t0002g0144
a0001c0003t0001g0062
a0001c0003t0001g0080
a0001c0003t0002g0150
a0002c0002t0001g0026
a0002c0002t0001g0042
a0002c0002t0001g0044
a0002c0002t0001g0055
a0002c0002t0001g0066
a0002c0002t0001g0073
a0002c0002t0001g0078
a0002c0002t0001g0087
a0002c0002t0001g0088
a0002c0002t0001g0095
a0002c0002t0001g0099
a0002c0002t0001g0108
a0002c0002t0001g0125
a0002c0002t0001g0126
a0002c0002t0001g0127
a0002c0002t0001g0129
a0002c0002t0001g0151
a0002c0002t0001g0185
a0002c0002t0002g0096
a0002c0002t0002g0112
a0002c0002t0002g0131
a0002c0002t0002g0146
a0002c0002t0002g0162
a0002c0002t0002g0163
a0002c0002t0002g0166
a0002c0002t0002g0172
a0002c0002t0002g0178
a0002c0002t0002g0183
a0002c0002t0002g0186
a0002c0002t0002g0207
a0002c0002t0002g0213
a0002c0006t0001g0187
a0004c0004t0001g0169
a0007c0012t0001g0109
a0011c0008t0001g0034
a0012c0007t0001g0036
 46 HG00099.hp1
HG00438.hp1
HG00544.hp2
others(43): Show 
HG00099.hp1
HG00438.hp1
HG00544.hp2
HG00597.hp1
HG00733.hp2
HG01081.hp1
HG01168.hp1
HG01256.hp1
HG01975.hp1
HG01978.hp2
HG02004.hp2
HG02080.hp1
HG02080.hp2
HG02155.hp2
HG02273.hp2
HG02293.hp2
HG02523.hp2
HG03239.hp1
HG03239.hp2
HG03927.hp1
HG04204.hp2
NA18906.hp2
NA18941.hp1
NA18942.hp1
NA18942.hp2
NA18954.hp2
NA18955.hp1
NA18963.hp1
NA18968.hp1
NA18975.hp1
NA18981.hp1
NA18992.hp1
NA18998.hp2
NA18999.hp2
NA19003.hp1
NA19010.hp2
NA19057.hp1
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19074.hp1
NA19077.hp2
NA19080.hp2
NA19081.hp1
NA19082.hp1
NA20129.hp2
 intron_variant MODIFIER c.562+212dupT
c.562+212dupT
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 5/8 INFO_REALIGN_3_PRIME chrX 1630144
chrX:1630186
T
T
 C
C
 26 a0001c0001t0001g0028
a0001c0001t0001g0047
a0001c0001t0001g0048
others(23): Show 
a0001c0001t0001g0028
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0061
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0068
a0001c0001t0002g0039
a0001c0001t0002g0147
a0001c0001t0002g0168
a0001c0001t0002g0170
a0001c0001t0002g0176
a0001c0001t0002g0200
a0001c0001t0002g0201
a0001c0003t0001g0051
a0002c0002t0001g0031
a0002c0002t0001g0057
a0002c0002t0001g0089
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0175
a0002c0002t0001g0220
a0002c0002t0002g0191
a0002c0002t0002g0199
a0002c0010t0001g0010
 26 HG00639.hp1
HG00733.hp1
HG01070.hp1
others(23): Show 
HG00639.hp1
HG00733.hp1
HG01070.hp1
HG01071.hp1
HG01081.hp2
HG01346.hp2
HG01361.hp2
HG01496.hp1
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01981.hp1
HG01993.hp2
HG02004.hp1
HG02148.hp2
HG02165.hp1
HG02622.hp2
NA18954.hp1
NA18963.hp2
NA18969.hp2
NA18998.hp1
NA18999.hp1
NA19011.hp1
NA19077.hp1
NA19240.hp2
 intron_variant MODIFIER c.562+247T>C
c.562+247T>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 5/8 chrX 1630186
chrX:1630186
T
T
 G
G
 8 a0001c0001t0001g0212
a0001c0001t0002g0190
a0002c0002t0001g0015
others(5): Show 
a0001c0001t0001g0212
a0001c0001t0002g0190
a0002c0002t0001g0015
a0002c0002t0001g0122
a0002c0002t0001g0221
a0002c0002t0002g0136
a0002c0002t0002g0160
a0003c0005t0001g0004
 8 HG01070.hp2
HG01891.hp2
HG02723.hp2
others(5): Show 
HG01070.hp2
HG01891.hp2
HG02723.hp2
HG02896.hp2
HG03486.hp1
HG03516.hp2
HG03540.hp2
NA20300.hp2
 intron_variant MODIFIER c.562+247T>G
c.562+247T>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 5/8 chrX 1630186
chrX:1630195
A
A
 G
G
 94 a0001c0001t0001g0007
a0001c0001t0001g0012
a0001c0001t0001g0016
others(91): Show 
a0001c0001t0001g0007
a0001c0001t0001g0012
a0001c0001t0001g0016
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0028
a0001c0001t0001g0037
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0053
a0001c0001t0001g0056
a0001c0001t0001g0061
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0068
a0001c0001t0001g0072
a0001c0001t0001g0076
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0086
a0001c0001t0001g0100
a0001c0001t0001g0102
a0001c0001t0001g0103
a0001c0001t0001g0110
a0001c0001t0001g0118
a0001c0001t0001g0121
a0001c0001t0001g0123
a0001c0001t0001g0128
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0214
a0001c0001t0002g0039
a0001c0001t0002g0120
a0001c0001t0002g0141
a0001c0001t0002g0145
a0001c0001t0002g0147
a0001c0001t0002g0153
a0001c0001t0002g0168
a0001c0001t0002g0170
a0001c0001t0002g0176
a0001c0001t0002g0180
a0001c0001t0002g0195
a0001c0001t0002g0196
a0001c0001t0002g0200
a0001c0001t0002g0201
a0001c0001t0002g0218
a0001c0001t0005g0165
a0001c0003t0001g0013
a0001c0003t0001g0051
a0001c0003t0001g0171
a0001c0003t0002g0133
a0002c0002t0001g0002
a0002c0002t0001g0003
a0002c0002t0001g0009
a0002c0002t0001g0020
a0002c0002t0001g0031
a0002c0002t0001g0042
a0002c0002t0001g0054
a0002c0002t0001g0057
a0002c0002t0001g0069
a0002c0002t0001g0074
a0002c0002t0001g0085
a0002c0002t0001g0089
a0002c0002t0001g0108
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0119
a0002c0002t0001g0124
a0002c0002t0001g0130
a0002c0002t0001g0175
a0002c0002t0001g0208
a0002c0002t0001g0210
a0002c0002t0001g0220
a0002c0002t0002g0154
a0002c0002t0002g0156
a0002c0002t0002g0159
a0002c0002t0002g0181
a0002c0002t0002g0191
a0002c0002t0002g0199
a0002c0002t0002g0216
a0002c0010t0001g0010
a0003c0005t0001g0202
a0003c0009t0001g0011
a0004c0004t0004g0148
a0005c0016t0001g0045
a0006c0011t0001g0139
a0008c0013t0001g0101
a0009c0014t0002g0075
a0014c0018t0001g0060
 94 HG00099.hp2
HG00323.hp1
HG00423.hp1
others(91): Show 
HG00099.hp2
HG00323.hp1
HG00423.hp1
HG00639.hp1
HG00639.hp2
HG00733.hp1
HG00735.hp1
HG00741.hp1
HG01070.hp1
HG01071.hp1
HG01081.hp2
HG01123.hp1
HG01168.hp2
HG01257.hp1
HG01257.hp2
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01496.hp1
HG01496.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01891.hp1
HG01975.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp2
HG02004.hp1
HG02109.hp1
HG02109.hp2
HG02148.hp1
HG02148.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02273.hp1
HG02280.hp1
HG02559.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02683.hp2
HG02723.hp1
HG02809.hp1
HG02886.hp1
HG02922.hp1
HG02922.hp2
HG02976.hp1
HG03041.hp2
HG03453.hp1
HG03453.hp2
HG03486.hp2
HG03491.hp2
HG03516.hp1
HG03704.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp2
HG03927.hp2
HG06807.hp2
NA18939.hp1
NA18942.hp2
NA18947.hp2
NA18949.hp2
NA18950.hp1
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18956.hp2
NA18963.hp2
NA18969.hp2
NA18974.hp1
NA18988.hp1
NA18998.hp1
NA18999.hp1
NA19002.hp1
NA19003.hp2
NA19010.hp1
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19074.hp2
NA19077.hp1
NA19080.hp1
NA19080.hp2
NA19081.hp2
NA19085.hp1
NA19240.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.562+256A>G
c.562+256A>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 5/8 chrX 1630195
chrX:1630207
C
C
 T
T
 9 a0001c0001t0001g0029
a0001c0001t0001g0105
a0001c0001t0001g0106
others(6): Show 
a0001c0001t0001g0029
a0001c0001t0001g0105
a0001c0001t0001g0106
a0001c0001t0001g0137
a0001c0003t0001g0023
a0001c0003t0001g0030
a0001c0003t0001g0113
a0001c0003t0002g0173
a0001c0003t0002g0177
 9 HG00423.hp2
HG01175.hp1
HG01934.hp1
others(6): Show 
HG00423.hp2
HG01175.hp1
HG01934.hp1
NA18947.hp1
NA18949.hp1
NA18956.hp1
NA18973.hp2
NA19002.hp2
NA19091.hp1
 intron_variant MODIFIER c.562+268C>T
c.562+268C>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 5/8 chrX 1630207
chrX:1630226
T
T
 C
C
 2 a0001c0001t0002g0145
a0006c0011t0001g0139
a0001c0001t0002g0145
a0006c0011t0001g0139
 2 HG02559.hp2
HG06807.hp2
HG02559.hp2
HG06807.hp2
 intron_variant MODIFIER c.562+287T>C
c.562+287T>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 5/8 chrX 1630226
chrX:1630238
A
A
 AT
AT
 1 a0001c0001t0002g0161
a0001c0001t0002g0161
 1 NA19057.hp2
NA19057.hp2
 intron_variant MODIFIER c.562+301dupT
c.562+301dupT
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 5/8 INFO_REALIGN_3_PRIME chrX 1630238
chrX:1630255
TC
TC
 T
T
 1 a0001c0001t0002g0161
a0001c0001t0002g0161
 1 NA19057.hp2
NA19057.hp2
 intron_variant MODIFIER c.562+319delC
c.562+319delC
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 5/8 INFO_REALIGN_3_PRIME chrX 1630255
chrX:1630269
G
G
 C
C
 1 a0009c0014t0002g0075
a0009c0014t0002g0075
 1 HG02683.hp2
HG02683.hp2
 intron_variant MODIFIER c.562+330G>C
c.562+330G>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 5/8 chrX 1630269
chrX:1630286
A
A
 AC
AC
 1 a0001c0001t0002g0161
a0001c0001t0002g0161
 1 NA19057.hp2
NA19057.hp2
 intron_variant MODIFIER c.562+349dupC
c.562+349dupC
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 5/8 INFO_REALIGN_3_PRIME chrX 1630286
chrX:1630289
A
A
 G
G
 28 a0001c0001t0001g0028
a0001c0001t0001g0047
a0001c0001t0001g0048
others(25): Show 
a0001c0001t0001g0028
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0061
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0068
a0001c0001t0002g0039
a0001c0001t0002g0147
a0001c0001t0002g0168
a0001c0001t0002g0170
a0001c0001t0002g0176
a0001c0001t0002g0200
a0001c0001t0002g0201
a0001c0003t0001g0051
a0002c0002t0001g0031
a0002c0002t0001g0042
a0002c0002t0001g0057
a0002c0002t0001g0089
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0175
a0002c0002t0001g0220
a0002c0002t0002g0191
a0002c0002t0002g0199
a0002c0010t0001g0010
a0009c0014t0002g0075
 28 HG00639.hp1
HG00733.hp1
HG01070.hp1
others(25): Show 
HG00639.hp1
HG00733.hp1
HG01070.hp1
HG01071.hp1
HG01081.hp2
HG01346.hp2
HG01361.hp2
HG01496.hp1
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01981.hp1
HG01993.hp2
HG02004.hp1
HG02148.hp2
HG02165.hp1
HG02622.hp2
HG02683.hp2
NA18942.hp2
NA18954.hp1
NA18963.hp2
NA18969.hp2
NA18998.hp1
NA18999.hp1
NA19011.hp1
NA19077.hp1
NA19240.hp2
 intron_variant MODIFIER c.562+350A>G
c.562+350A>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 5/8 chrX 1630289
chrX:1630300
A
A
 AT
AT
 40 a0001c0001t0001g0016
a0001c0001t0001g0024
a0001c0001t0001g0025
others(37): Show 
a0001c0001t0001g0016
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0041
a0001c0001t0001g0053
a0001c0001t0001g0076
a0001c0001t0001g0082
a0001c0001t0001g0100
a0001c0001t0001g0102
a0001c0001t0001g0103
a0001c0001t0001g0114
a0001c0001t0001g0128
a0001c0001t0001g0138
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0205
a0001c0001t0001g0212
a0001c0001t0002g0153
a0001c0001t0002g0161
a0001c0001t0002g0176
a0001c0001t0002g0180
a0001c0001t0002g0190
a0001c0001t0002g0195
a0001c0001t0002g0218
a0001c0001t0005g0165
a0001c0003t0001g0013
a0001c0003t0001g0171
a0001c0003t0002g0182
a0002c0002t0001g0003
a0002c0002t0001g0015
a0002c0002t0001g0122
a0002c0002t0001g0185
a0002c0002t0001g0221
a0002c0002t0002g0136
a0002c0002t0002g0154
a0002c0002t0002g0156
a0002c0002t0002g0160
a0002c0002t0002g0217
a0004c0004t0004g0148
 40 HG00423.hp1
HG00544.hp1
HG00639.hp2
others(37): Show 
HG00423.hp1
HG00544.hp1
HG00639.hp2
HG00735.hp1
HG00741.hp1
HG01070.hp2
HG01175.hp2
HG01257.hp1
HG01257.hp2
HG01496.hp2
HG01891.hp2
HG01975.hp2
HG01978.hp1
HG02148.hp1
HG02273.hp1
HG02451.hp1
HG02723.hp1
HG02723.hp2
HG02896.hp2
HG02922.hp2
HG03486.hp1
HG03516.hp2
HG03540.hp2
HG03704.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp2
NA18951.hp2
NA18956.hp2
NA18969.hp2
NA18973.hp1
NA18985.hp1
NA19002.hp1
NA19003.hp2
NA19010.hp1
NA19057.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp1
NA21309.hp2
 intron_variant MODIFIER c.562+384dupT
c.562+384dupT
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 5/8 INFO_REALIGN_3_PRIME chrX 1630300
chrX:1630300
A
A
 ATT
ATT
 69 a0001c0001t0001g0001
a0001c0001t0001g0008
a0001c0001t0001g0028
others(66): Show 
a0001c0001t0001g0001
a0001c0001t0001g0008
a0001c0001t0001g0028
a0001c0001t0001g0037
a0001c0001t0001g0043
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0061
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0071
a0001c0001t0001g0077
a0001c0001t0001g0081
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0158
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0206
a0001c0001t0001g0209
a0001c0001t0001g0211
a0001c0001t0001g0215
a0001c0001t0002g0039
a0001c0001t0002g0120
a0001c0001t0002g0135
a0001c0001t0002g0147
a0001c0001t0002g0152
a0001c0001t0002g0170
a0001c0001t0002g0196
a0001c0001t0002g0200
a0001c0001t0002g0201
a0001c0001t0003g0090
a0001c0003t0001g0051
a0001c0003t0001g0070
a0002c0002t0001g0018
a0002c0002t0001g0020
a0002c0002t0001g0026
a0002c0002t0001g0031
a0002c0002t0001g0044
a0002c0002t0001g0054
a0002c0002t0001g0066
a0002c0002t0001g0085
a0002c0002t0001g0089
a0002c0002t0001g0099
a0002c0002t0001g0125
a0002c0002t0001g0127
a0002c0002t0001g0151
a0002c0002t0001g0175
a0002c0002t0001g0189
a0002c0002t0001g0210
a0002c0002t0001g0220
a0002c0002t0002g0112
a0002c0002t0002g0131
a0002c0002t0002g0146
a0002c0002t0002g0159
a0002c0002t0002g0178
a0002c0002t0002g0188
a0002c0002t0002g0191
a0002c0002t0002g0199
a0002c0002t0002g0216
a0002c0006t0001g0104
a0002c0010t0001g0010
a0003c0005t0001g0004
a0003c0009t0001g0011
a0005c0016t0001g0045
a0006c0011t0001g0139
a0008c0013t0001g0101
 70 HG00733.hp1
HG00733.hp2
HG01070.hp1
others(67): Show 
HG00733.hp1
HG00733.hp2
HG01070.hp1
HG01071.hp1
HG01081.hp2
HG01123.hp1
HG01256.hp1
HG01496.hp1
HG01516.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02148.hp2
HG02165.hp1
HG02257.hp2
HG02273.hp2
HG02280.hp1
HG02293.hp2
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02896.hp1
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03195.hp2
HG03516.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03834.hp1
HG03927.hp2
HG04204.hp2
NA18939.hp1
NA18941.hp1
NA18947.hp2
NA18951.hp1
NA18954.hp1
NA18954.hp2
NA18963.hp2
NA18974.hp1
NA18992.hp1
NA18998.hp1
NA18999.hp1
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19064.hp1
NA19077.hp1
NA19077.hp2
NA19080.hp1
NA19081.hp1
NA19081.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.562+383_562+384dup
others(2): Show 
c.562+383_562+384dupTT
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 5/8 INFO_REALIGN_3_PRIME chrX 1630300
chrX:1630300
A
A
 ATTT
ATTT
 37 a0001c0001t0001g0040
a0001c0001t0001g0068
a0001c0001t0001g0079
others(34): Show 
a0001c0001t0001g0040
a0001c0001t0001g0068
a0001c0001t0001g0079
a0001c0001t0001g0086
a0001c0001t0001g0097
a0001c0001t0001g0174
a0001c0001t0002g0145
a0001c0001t0002g0168
a0001c0003t0001g0062
a0001c0003t0001g0080
a0001c0003t0001g0091
a0001c0003t0002g0150
a0002c0002t0001g0042
a0002c0002t0001g0055
a0002c0002t0001g0073
a0002c0002t0001g0078
a0002c0002t0001g0087
a0002c0002t0001g0088
a0002c0002t0001g0095
a0002c0002t0001g0124
a0002c0002t0001g0126
a0002c0002t0001g0129
a0002c0002t0002g0096
a0002c0002t0002g0162
a0002c0002t0002g0163
a0002c0002t0002g0166
a0002c0002t0002g0172
a0002c0002t0002g0183
a0002c0002t0002g0186
a0002c0002t0002g0207
a0002c0002t0002g0213
a0003c0005t0001g0202
a0004c0004t0001g0169
a0007c0012t0001g0109
a0009c0014t0002g0075
a0011c0008t0001g0034
a0012c0007t0001g0036
 37 HG00099.hp1
HG00438.hp1
HG00597.hp1
others(34): Show 
HG00099.hp1
HG00438.hp1
HG00597.hp1
HG00597.hp2
HG00639.hp1
HG01081.hp1
HG01168.hp1
HG01346.hp2
HG01361.hp1
HG01975.hp1
HG02080.hp1
HG02080.hp2
HG02155.hp2
HG02523.hp2
HG02683.hp2
HG02922.hp1
HG03239.hp1
HG03239.hp2
HG03927.hp1
HG06807.hp2
NA18942.hp1
NA18942.hp2
NA18950.hp1
NA18955.hp1
NA18963.hp1
NA18968.hp1
NA18975.hp1
NA18981.hp1
NA18998.hp2
NA18999.hp2
NA19003.hp1
NA19010.hp2
NA19057.hp1
NA19064.hp2
NA19065.hp1
NA19082.hp1
NA20129.hp2
 intron_variant MODIFIER c.562+382_562+384dup
others(3): Show 
c.562+382_562+384dupTTT
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 5/8 INFO_REALIGN_3_PRIME chrX 1630300
chrX:1630300
A
A
 ATTTT
ATTTT
 3 a0002c0002t0001g0108
a0002c0002t0001g0119
a0002c0006t0001g0187
a0002c0002t0001g0108
a0002c0002t0001g0119
a0002c0006t0001g0187
 3 HG00544.hp2
HG01168.hp2
NA19080.hp2
HG00544.hp2
HG01168.hp2
NA19080.hp2
 intron_variant MODIFIER c.562+381_562+384dup
others(4): Show 
c.562+381_562+384dupTTTT
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 5/8 INFO_REALIGN_3_PRIME chrX 1630300
chrX:1630300
AT
AT
 A
A
 9 a0001c0001t0001g0121
a0001c0001t0001g0214
a0001c0003t0001g0050
others(6): Show 
a0001c0001t0001g0121
a0001c0001t0001g0214
a0001c0003t0001g0050
a0002c0002t0001g0002
a0002c0002t0001g0009
a0002c0002t0001g0069
a0002c0002t0001g0116
a0002c0002t0001g0208
a0010c0015t0002g0179
 9 HG01516.hp1
HG01891.hp1
HG02109.hp1
others(6): Show 
HG01516.hp1
HG01891.hp1
HG02109.hp1
HG02622.hp1
HG02886.hp1
HG03041.hp2
HG03453.hp1
HG04184.hp2
NA19072.hp2
 intron_variant MODIFIER c.562+384delT
c.562+384delT
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 5/8 INFO_REALIGN_3_PRIME chrX 1630300
chrX:1630300
ATTTTTTT
ATTTTTTT
 A
A
 1 a0013c0017t0001g0111
a0013c0017t0001g0111
 1 HG02523.hp1
HG02523.hp1
 intron_variant MODIFIER c.562+378_562+384del
others(7): Show 
c.562+378_562+384delTTTTTTT
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 5/8 INFO_REALIGN_3_PRIME chrX 1630300
chrX:1630300
ATTTTTTT
others(1): Show 
ATTTTTTTT
 A
A
 1 a0002c0002t0002g0181
a0002c0002t0002g0181
 1 HG00099.hp2
HG00099.hp2
 intron_variant MODIFIER c.562+377_562+384del
others(8): Show 
c.562+377_562+384delTTTTTTTT
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 5/8 INFO_REALIGN_3_PRIME chrX 1630300
chrX:1630352
C
C
 A
A
 6 a0001c0001t0002g0190
a0002c0002t0001g0015
a0002c0002t0001g0122
others(3): Show 
a0001c0001t0002g0190
a0002c0002t0001g0015
a0002c0002t0001g0122
a0002c0002t0001g0221
a0002c0002t0002g0136
a0002c0002t0002g0160
 6 HG01070.hp2
HG02723.hp2
HG02896.hp2
others(3): Show 
HG01070.hp2
HG02723.hp2
HG02896.hp2
HG03486.hp1
HG03516.hp2
HG03540.hp2
 intron_variant MODIFIER c.562+413C>A
c.562+413C>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 5/8 chrX 1630352
chrX:1630382
C
C
 A
A
 5 a0001c0001t0001g0121
a0002c0002t0001g0002
a0002c0002t0001g0009
others(2): Show 
a0001c0001t0001g0121
a0002c0002t0001g0002
a0002c0002t0001g0009
a0002c0002t0001g0069
a0002c0002t0001g0208
 5 HG01891.hp1
HG02109.hp1
HG02886.hp1
others(2): Show 
HG01891.hp1
HG02109.hp1
HG02886.hp1
HG03041.hp2
HG03453.hp1
 intron_variant MODIFIER c.562+443C>A
c.562+443C>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 5/8 chrX 1630382
chrX:1630383
G
G
 A
A
 35 a0001c0001t0001g0040
a0001c0001t0001g0097
a0001c0001t0002g0135
others(32): Show 
a0001c0001t0001g0040
a0001c0001t0001g0097
a0001c0001t0002g0135
a0001c0003t0001g0062
a0001c0003t0001g0080
a0001c0003t0002g0150
a0002c0002t0001g0042
a0002c0002t0001g0044
a0002c0002t0001g0055
a0002c0002t0001g0066
a0002c0002t0001g0073
a0002c0002t0001g0078
a0002c0002t0001g0087
a0002c0002t0001g0088
a0002c0002t0001g0095
a0002c0002t0001g0108
a0002c0002t0001g0125
a0002c0002t0001g0126
a0002c0002t0001g0127
a0002c0002t0001g0129
a0002c0002t0001g0210
a0002c0002t0002g0096
a0002c0002t0002g0112
a0002c0002t0002g0146
a0002c0002t0002g0162
a0002c0002t0002g0163
a0002c0002t0002g0166
a0002c0002t0002g0172
a0002c0002t0002g0183
a0002c0002t0002g0186
a0002c0002t0002g0207
a0002c0002t0002g0213
a0002c0006t0001g0187
a0007c0012t0001g0109
a0011c0008t0001g0034
 35 HG00099.hp1
HG00438.hp1
HG00544.hp2
others(32): Show 
HG00099.hp1
HG00438.hp1
HG00544.hp2
HG00597.hp1
HG00733.hp2
HG01081.hp1
HG01168.hp1
HG01256.hp1
HG01975.hp1
HG02004.hp2
HG02080.hp1
HG02155.hp2
HG02293.hp2
HG02523.hp2
HG02615.hp2
HG02976.hp1
HG03239.hp1
HG03239.hp2
HG03927.hp1
HG04204.hp2
NA18941.hp1
NA18942.hp1
NA18942.hp2
NA18963.hp1
NA18968.hp1
NA18975.hp1
NA18981.hp1
NA18999.hp2
NA19003.hp1
NA19010.hp2
NA19057.hp1
NA19064.hp2
NA19065.hp1
NA19080.hp2
NA20129.hp2
 intron_variant MODIFIER c.562+444G>A
c.562+444G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 5/8 chrX 1630383
chrX:1630495
C
C
 T
T
 24 a0001c0001t0001g0028
a0001c0001t0001g0047
a0001c0001t0001g0048
others(21): Show 
a0001c0001t0001g0028
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0061
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0068
a0001c0001t0002g0039
a0001c0001t0002g0147
a0001c0001t0002g0168
a0001c0001t0002g0170
a0001c0001t0002g0176
a0001c0001t0002g0200
a0001c0001t0002g0201
a0001c0003t0001g0051
a0002c0002t0001g0031
a0002c0002t0001g0089
a0002c0002t0001g0175
a0002c0002t0001g0220
a0002c0002t0002g0191
a0002c0002t0002g0199
a0002c0010t0001g0010
a0003c0005t0001g0004
 24 HG00639.hp1
HG00733.hp1
HG01070.hp1
others(21): Show 
HG00639.hp1
HG00733.hp1
HG01070.hp1
HG01071.hp1
HG01081.hp2
HG01346.hp2
HG01496.hp1
HG01516.hp2
HG01517.hp2
HG01981.hp1
HG01993.hp2
HG02004.hp1
HG02148.hp2
HG02165.hp1
HG02622.hp2
NA18954.hp1
NA18963.hp2
NA18969.hp2
NA18998.hp1
NA18999.hp1
NA19011.hp1
NA19077.hp1
NA19240.hp2
NA20300.hp2
 intron_variant MODIFIER c.562+556C>T
c.562+556C>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 5/8 chrX 1630495
chrX:1630606
G
G
 A
A
 5 a0001c0001t0002g0190
a0002c0002t0001g0002
a0002c0002t0001g0015
others(2): Show 
a0001c0001t0002g0190
a0002c0002t0001g0002
a0002c0002t0001g0015
a0002c0002t0001g0122
a0002c0002t0002g0160
 5 HG02723.hp2
HG02896.hp2
HG03453.hp1
others(2): Show 
HG02723.hp2
HG02896.hp2
HG03453.hp1
HG03516.hp2
HG03540.hp2
 intron_variant MODIFIER c.562+667G>A
c.562+667G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 5/8 chrX 1630606
chrX:1630627
G
G
 A
A
 1 a0009c0014t0002g0075
a0009c0014t0002g0075
 1 HG02683.hp2
HG02683.hp2
 intron_variant MODIFIER c.562+688G>A
c.562+688G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 5/8 chrX 1630627
chrX:1630825
TG
TG
 T
T
 1 a0001c0001t0002g0161
a0001c0001t0002g0161
 1 NA19057.hp2
NA19057.hp2
 intron_variant MODIFIER c.562+889delG
c.562+889delG
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 5/8 INFO_REALIGN_3_PRIME chrX 1630825
chrX:1630841
C
C
 CCCT
CCCT
 1 a0001c0001t0002g0161
a0001c0001t0002g0161
 1 NA19057.hp2
NA19057.hp2
 intron_variant MODIFIER c.562+902_562+903ins
others(3): Show 
c.562+902_562+903insCCT
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 5/8 chrX 1630841
chrX:1630871
T
T
 TTTTA
TTTTA
 157 a0001c0001t0001g0001
a0001c0001t0001g0016
a0001c0001t0001g0024
others(154): Show 
a0001c0001t0001g0001
a0001c0001t0001g0016
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0035
a0001c0001t0001g0037
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0053
a0001c0001t0001g0056
a0001c0001t0001g0061
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0068
a0001c0001t0001g0072
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0079
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0086
a0001c0001t0001g0100
a0001c0001t0001g0102
a0001c0001t0001g0103
a0001c0001t0001g0105
a0001c0001t0001g0106
a0001c0001t0001g0114
a0001c0001t0001g0121
a0001c0001t0001g0123
a0001c0001t0001g0128
a0001c0001t0001g0137
a0001c0001t0001g0174
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0209
a0001c0001t0001g0212
a0001c0001t0002g0039
a0001c0001t0002g0120
a0001c0001t0002g0140
a0001c0001t0002g0141
a0001c0001t0002g0144
a0001c0001t0002g0145
a0001c0001t0002g0147
a0001c0001t0002g0152
a0001c0001t0002g0153
a0001c0001t0002g0157
a0001c0001t0002g0164
a0001c0001t0002g0168
a0001c0001t0002g0170
a0001c0001t0002g0176
a0001c0001t0002g0180
a0001c0001t0002g0184
a0001c0001t0002g0190
a0001c0001t0002g0195
a0001c0001t0002g0196
a0001c0001t0002g0200
a0001c0001t0002g0201
a0001c0001t0002g0218
a0001c0001t0003g0090
a0001c0001t0005g0165
a0001c0003t0001g0013
a0001c0003t0001g0070
a0001c0003t0001g0091
a0001c0003t0001g0171
a0001c0003t0002g0155
a0002c0002t0001g0002
a0002c0002t0001g0003
a0002c0002t0001g0009
a0002c0002t0001g0015
a0002c0002t0001g0018
a0002c0002t0001g0026
a0002c0002t0001g0031
a0002c0002t0001g0042
a0002c0002t0001g0044
a0002c0002t0001g0052
a0002c0002t0001g0054
a0002c0002t0001g0055
a0002c0002t0001g0057
a0002c0002t0001g0066
a0002c0002t0001g0069
a0002c0002t0001g0073
a0002c0002t0001g0078
a0002c0002t0001g0085
a0002c0002t0001g0087
a0002c0002t0001g0089
a0002c0002t0001g0095
a0002c0002t0001g0098
a0002c0002t0001g0099
a0002c0002t0001g0108
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0119
a0002c0002t0001g0122
a0002c0002t0001g0124
a0002c0002t0001g0125
a0002c0002t0001g0126
a0002c0002t0001g0127
a0002c0002t0001g0129
a0002c0002t0001g0130
a0002c0002t0001g0151
a0002c0002t0001g0175
a0002c0002t0001g0185
a0002c0002t0001g0189
a0002c0002t0001g0208
a0002c0002t0001g0210
a0002c0002t0001g0221
a0002c0002t0001g0222
a0002c0002t0002g0096
a0002c0002t0002g0112
a0002c0002t0002g0131
a0002c0002t0002g0136
a0002c0002t0002g0146
a0002c0002t0002g0154
a0002c0002t0002g0156
a0002c0002t0002g0159
a0002c0002t0002g0160
a0002c0002t0002g0162
a0002c0002t0002g0163
a0002c0002t0002g0166
a0002c0002t0002g0172
a0002c0002t0002g0178
a0002c0002t0002g0181
a0002c0002t0002g0183
a0002c0002t0002g0186
a0002c0002t0002g0188
a0002c0002t0002g0191
a0002c0002t0002g0198
a0002c0002t0002g0199
a0002c0002t0002g0207
a0002c0002t0002g0213
a0002c0002t0002g0216
a0002c0002t0002g0217
a0002c0006t0001g0104
a0002c0006t0001g0187
a0002c0010t0001g0010
a0003c0009t0001g0011
a0004c0004t0001g0169
a0004c0004t0004g0148
a0005c0016t0001g0045
a0006c0011t0001g0139
a0007c0012t0001g0109
a0008c0013t0001g0101
a0011c0008t0001g0034
a0012c0007t0001g0036
 158 HG00099.hp1
HG00099.hp2
HG00323.hp1
others(155): Show 
HG00099.hp1
HG00099.hp2
HG00323.hp1
HG00423.hp1
HG00438.hp1
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00597.hp2
HG00639.hp1
HG00639.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00741.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01081.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp2
HG01256.hp1
HG01257.hp1
HG01257.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01496.hp1
HG01496.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02148.hp1
HG02148.hp2
HG02155.hp2
HG02165.hp1
HG02257.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp2
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp2
HG02622.hp2
HG02630.hp1
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp2
HG02922.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03486.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG04204.hp2
HG06807.hp2
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp1
NA18942.hp1
NA18942.hp2
NA18947.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18956.hp2
NA18963.hp1
NA18968.hp1
NA18969.hp2
NA18973.hp2
NA18974.hp1
NA18975.hp1
NA18977.hp2
NA18981.hp1
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19010.hp1
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19057.hp1
NA19062.hp1
NA19064.hp1
NA19074.hp1
NA19074.hp2
NA19077.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19082.hp1
NA19085.hp1
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.562+957_562+960dup
others(4): Show 
c.562+957_562+960dupTTTA
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 5/8 INFO_REALIGN_3_PRIME chrX 1630871
chrX:1630871
T
T
 TTTTATTT
others(1): Show 
TTTTATTTA
 3 a0002c0002t0001g0020
a0003c0005t0001g0202
a0009c0014t0002g0075
a0002c0002t0001g0020
a0003c0005t0001g0202
a0009c0014t0002g0075
 3 HG02280.hp1
HG02683.hp2
HG02922.hp1
HG02280.hp1
HG02683.hp2
HG02922.hp1
 intron_variant MODIFIER c.562+953_562+960dup
others(8): Show 
c.562+953_562+960dupTTTATTTA
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 5/8 INFO_REALIGN_3_PRIME chrX 1630871
chrX:1630913
A
A
 AT
AT
 6 a0001c0001t0001g0121
a0001c0003t0002g0182
a0002c0002t0001g0009
others(3): Show 
a0001c0001t0001g0121
a0001c0003t0002g0182
a0002c0002t0001g0009
a0002c0002t0001g0020
a0002c0002t0001g0069
a0002c0002t0001g0208
 6 HG01891.hp1
HG02109.hp1
HG02280.hp1
others(3): Show 
HG01891.hp1
HG02109.hp1
HG02280.hp1
HG02886.hp1
HG03041.hp2
NA18985.hp1
 intron_variant MODIFIER c.562+977dupT
c.562+977dupT
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 5/8 INFO_REALIGN_3_PRIME chrX 1630913
chrX:1630916
TA
TA
 T
T
 5 a0001c0001t0001g0021
a0001c0001t0002g0161
a0001c0001t0002g0176
others(2): Show 
a0001c0001t0001g0021
a0001c0001t0002g0161
a0001c0001t0002g0176
a0001c0003t0001g0080
a0001c0003t0001g0093
 5 HG03195.hp1
NA18969.hp2
NA18986.hp2
others(2): Show 
HG03195.hp1
NA18969.hp2
NA18986.hp2
NA19057.hp2
NA19065.hp1
 intron_variant MODIFIER c.562+978delA
c.562+978delA
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 5/8 chrX 1630916
chrX:1630917
A
A
 AT
AT
 1 a0009c0014t0002g0075
a0009c0014t0002g0075
 1 HG02683.hp2
HG02683.hp2
 intron_variant MODIFIER c.562+989dupT
c.562+989dupT
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 5/8 INFO_REALIGN_3_PRIME chrX 1630917
chrX:1630917
A
A
 T
T
 75 a0001c0001t0001g0005
a0001c0001t0001g0006
a0001c0001t0001g0007
others(72): Show 
a0001c0001t0001g0005
a0001c0001t0001g0006
a0001c0001t0001g0007
a0001c0001t0001g0012
a0001c0001t0001g0014
a0001c0001t0001g0017
a0001c0001t0001g0019
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0041
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0058
a0001c0001t0001g0061
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0086
a0001c0001t0001g0097
a0001c0001t0001g0118
a0001c0001t0001g0121
a0001c0001t0002g0039
a0001c0001t0002g0132
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0002g0143
a0001c0001t0002g0147
a0001c0001t0002g0167
a0001c0001t0002g0168
a0001c0001t0002g0170
a0001c0001t0002g0200
a0001c0001t0002g0201
a0001c0003t0001g0022
a0001c0003t0001g0023
a0001c0003t0001g0030
a0001c0003t0001g0032
a0001c0003t0001g0033
a0001c0003t0001g0038
a0001c0003t0001g0050
a0001c0003t0001g0059
a0001c0003t0001g0062
a0001c0003t0001g0092
a0001c0003t0001g0094
a0001c0003t0001g0107
a0001c0003t0001g0113
a0001c0003t0001g0115
a0001c0003t0001g0193
a0001c0003t0001g0219
a0001c0003t0002g0133
a0001c0003t0002g0142
a0001c0003t0002g0149
a0001c0003t0002g0150
a0001c0003t0002g0173
a0001c0003t0002g0177
a0001c0003t0002g0182
a0002c0002t0001g0009
a0002c0002t0001g0020
a0002c0002t0001g0031
a0002c0002t0001g0069
a0002c0002t0001g0085
a0002c0002t0001g0089
a0002c0002t0001g0175
a0002c0002t0001g0208
a0002c0002t0001g0220
a0002c0002t0002g0191
a0002c0002t0002g0199
a0002c0010t0001g0010
a0003c0005t0001g0004
a0010c0015t0002g0179
a0013c0017t0001g0111
a0014c0018t0001g0060
 75 HG00323.hp2
HG00423.hp2
HG00438.hp2
others(72): Show 
HG00323.hp2
HG00423.hp2
HG00438.hp2
HG00639.hp1
HG00733.hp1
HG00741.hp2
HG01070.hp1
HG01071.hp1
HG01071.hp2
HG01081.hp2
HG01175.hp1
HG01346.hp2
HG01496.hp1
HG01516.hp2
HG01517.hp2
HG01891.hp1
HG01934.hp1
HG01975.hp1
HG01981.hp1
HG01993.hp2
HG02004.hp1
HG02109.hp1
HG02109.hp2
HG02148.hp2
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02280.hp1
HG02523.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp2
HG02683.hp1
HG02886.hp1
HG03041.hp2
HG03486.hp2
HG03491.hp1
HG03540.hp1
HG04184.hp1
HG04184.hp2
HG06807.hp1
NA18906.hp1
NA18941.hp2
NA18947.hp1
NA18947.hp2
NA18950.hp1
NA18950.hp2
NA18954.hp1
NA18956.hp1
NA18968.hp2
NA18969.hp1
NA18973.hp1
NA18975.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp2
NA18985.hp1
NA18988.hp1
NA18992.hp1
NA18992.hp2
NA18998.hp1
NA18999.hp1
NA19002.hp2
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19064.hp2
NA19065.hp2
NA19072.hp2
NA19077.hp1
NA19081.hp2
NA19240.hp2
NA20300.hp1
NA20300.hp2
 intron_variant MODIFIER c.562+978A>T
c.562+978A>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 5/8 chrX 1630917
chrX:1630921
T
T
 A
A
 35 a0002c0002t0001g0026
a0002c0002t0001g0042
a0002c0002t0001g0044
others(32): Show 
a0002c0002t0001g0026
a0002c0002t0001g0042
a0002c0002t0001g0044
a0002c0002t0001g0055
a0002c0002t0001g0066
a0002c0002t0001g0073
a0002c0002t0001g0087
a0002c0002t0001g0095
a0002c0002t0001g0099
a0002c0002t0001g0108
a0002c0002t0001g0125
a0002c0002t0001g0126
a0002c0002t0001g0127
a0002c0002t0001g0129
a0002c0002t0001g0151
a0002c0002t0001g0185
a0002c0002t0001g0210
a0002c0002t0002g0096
a0002c0002t0002g0112
a0002c0002t0002g0131
a0002c0002t0002g0146
a0002c0002t0002g0162
a0002c0002t0002g0163
a0002c0002t0002g0166
a0002c0002t0002g0172
a0002c0002t0002g0178
a0002c0002t0002g0183
a0002c0002t0002g0186
a0002c0002t0002g0207
a0002c0002t0002g0213
a0002c0006t0001g0187
a0004c0004t0001g0169
a0007c0012t0001g0109
a0011c0008t0001g0034
a0012c0007t0001g0036
 35 HG00438.hp1
HG00544.hp2
HG00597.hp1
others(32): Show 
HG00438.hp1
HG00544.hp2
HG00597.hp1
HG00733.hp2
HG01168.hp1
HG01256.hp1
HG01978.hp2
HG02004.hp2
HG02080.hp1
HG02080.hp2
HG02155.hp2
HG02273.hp2
HG02293.hp2
HG02523.hp2
HG02976.hp1
HG03239.hp1
HG03239.hp2
HG04204.hp2
NA18941.hp1
NA18942.hp1
NA18942.hp2
NA18954.hp2
NA18963.hp1
NA18968.hp1
NA18975.hp1
NA18981.hp1
NA18999.hp2
NA19003.hp1
NA19057.hp1
NA19064.hp1
NA19074.hp1
NA19077.hp2
NA19080.hp2
NA19082.hp1
NA20129.hp2
 intron_variant MODIFIER c.562+982T>A
c.562+982T>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 5/8 chrX 1630921
chrX:1631060
G
G
 A
A
 18 a0001c0001t0001g0056
a0001c0001t0002g0152
a0001c0001t0002g0157
others(15): Show 
a0001c0001t0001g0056
a0001c0001t0002g0152
a0001c0001t0002g0157
a0001c0001t0002g0164
a0001c0003t0001g0171
a0002c0002t0001g0003
a0002c0002t0001g0057
a0002c0002t0001g0078
a0002c0002t0001g0098
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0124
a0002c0002t0001g0130
a0002c0002t0002g0156
a0002c0002t0002g0159
a0002c0002t0002g0198
a0002c0002t0002g0217
a0004c0004t0004g0148
 18 HG00323.hp1
HG00423.hp1
HG00735.hp2
others(15): Show 
HG00323.hp1
HG00423.hp1
HG00735.hp2
HG01123.hp2
HG01175.hp2
HG01346.hp1
HG01361.hp1
HG01361.hp2
HG01516.hp1
HG01517.hp1
HG02602.hp2
HG03516.hp1
HG03704.hp1
HG03831.hp2
HG03927.hp1
NA18949.hp2
NA19003.hp2
NA21309.hp2
 intron_variant MODIFIER c.562+1121G>A
c.562+1121G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 5/8 chrX 1631060
chrX:1631063
A
A
 AC
AC
 1 a0001c0001t0002g0161
a0001c0001t0002g0161
 1 NA19057.hp2
NA19057.hp2
 intron_variant MODIFIER c.562+1126dupC
c.562+1126dupC
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 5/8 INFO_REALIGN_3_PRIME chrX 1631063
chrX:1631068
G
G
 A
A
 36 a0002c0002t0001g0026
a0002c0002t0001g0042
a0002c0002t0001g0044
others(33): Show 
a0002c0002t0001g0026
a0002c0002t0001g0042
a0002c0002t0001g0044
a0002c0002t0001g0055
a0002c0002t0001g0066
a0002c0002t0001g0073
a0002c0002t0001g0087
a0002c0002t0001g0095
a0002c0002t0001g0099
a0002c0002t0001g0108
a0002c0002t0001g0125
a0002c0002t0001g0126
a0002c0002t0001g0127
a0002c0002t0001g0129
a0002c0002t0001g0151
a0002c0002t0001g0185
a0002c0002t0001g0210
a0002c0002t0002g0096
a0002c0002t0002g0112
a0002c0002t0002g0131
a0002c0002t0002g0146
a0002c0002t0002g0162
a0002c0002t0002g0163
a0002c0002t0002g0166
a0002c0002t0002g0172
a0002c0002t0002g0178
a0002c0002t0002g0183
a0002c0002t0002g0186
a0002c0002t0002g0207
a0002c0002t0002g0213
a0002c0006t0001g0187
a0004c0004t0001g0169
a0007c0012t0001g0109
a0009c0014t0002g0075
a0011c0008t0001g0034
a0012c0007t0001g0036
 36 HG00438.hp1
HG00544.hp2
HG00597.hp1
others(33): Show 
HG00438.hp1
HG00544.hp2
HG00597.hp1
HG00733.hp2
HG01168.hp1
HG01256.hp1
HG01978.hp2
HG02004.hp2
HG02080.hp1
HG02080.hp2
HG02155.hp2
HG02273.hp2
HG02293.hp2
HG02523.hp2
HG02683.hp2
HG02976.hp1
HG03239.hp1
HG03239.hp2
HG04204.hp2
NA18941.hp1
NA18942.hp1
NA18942.hp2
NA18954.hp2
NA18963.hp1
NA18968.hp1
NA18975.hp1
NA18981.hp1
NA18999.hp2
NA19003.hp1
NA19057.hp1
NA19064.hp1
NA19074.hp1
NA19077.hp2
NA19080.hp2
NA19082.hp1
NA20129.hp2
 intron_variant MODIFIER c.562+1129G>A
c.562+1129G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 5/8 chrX 1631068
chrX:1631082
TTG
TTG
 T
T
 1 a0001c0001t0002g0161
a0001c0001t0002g0161
 1 NA19057.hp2
NA19057.hp2
 intron_variant MODIFIER c.562+1145_562+1146d
others(4): Show 
c.562+1145_562+1146delGT
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 5/8 INFO_REALIGN_3_PRIME chrX 1631082
chrX:1631084
G
G
 GT
GT
 3 a0001c0001t0002g0167
a0001c0003t0001g0030
a0013c0017t0001g0111
a0001c0001t0002g0167
a0001c0003t0001g0030
a0013c0017t0001g0111
 3 HG02523.hp1
NA18947.hp1
NA18975.hp2
HG02523.hp1
NA18947.hp1
NA18975.hp2
 intron_variant MODIFIER c.562+1156dupT
c.562+1156dupT
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 5/8 INFO_REALIGN_3_PRIME chrX 1631084
chrX:1631084
G
G
 GTT
GTT
 21 a0001c0001t0001g0056
a0001c0001t0002g0152
a0001c0001t0002g0157
others(18): Show 
a0001c0001t0001g0056
a0001c0001t0002g0152
a0001c0001t0002g0157
a0001c0001t0002g0164
a0001c0003t0001g0171
a0001c0003t0002g0155
a0002c0002t0001g0003
a0002c0002t0001g0052
a0002c0002t0001g0057
a0002c0002t0001g0078
a0002c0002t0001g0098
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0124
a0002c0002t0001g0130
a0002c0002t0001g0222
a0002c0002t0002g0156
a0002c0002t0002g0159
a0002c0002t0002g0198
a0002c0002t0002g0217
a0004c0004t0004g0148
 21 HG00323.hp1
HG00423.hp1
HG00735.hp2
others(18): Show 
HG00323.hp1
HG00423.hp1
HG00735.hp2
HG01123.hp2
HG01175.hp2
HG01346.hp1
HG01361.hp1
HG01361.hp2
HG01516.hp1
HG01517.hp1
HG02602.hp2
HG03516.hp1
HG03704.hp1
HG03831.hp2
HG03927.hp1
NA18939.hp2
NA18949.hp2
NA18977.hp2
NA19003.hp2
NA19062.hp1
NA21309.hp2
 intron_variant MODIFIER c.562+1155_562+1156d
others(4): Show 
c.562+1155_562+1156dupTT
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 5/8 INFO_REALIGN_3_PRIME chrX 1631084
chrX:1631084
GT
GT
 G
G
 111 a0001c0001t0001g0008
a0001c0001t0001g0016
a0001c0001t0001g0024
others(108): Show 
a0001c0001t0001g0008
a0001c0001t0001g0016
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0029
a0001c0001t0001g0035
a0001c0001t0001g0037
a0001c0001t0001g0040
a0001c0001t0001g0047
a0001c0001t0001g0049
a0001c0001t0001g0053
a0001c0001t0001g0061
a0001c0001t0001g0063
a0001c0001t0001g0065
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0076
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0086
a0001c0001t0001g0100
a0001c0001t0001g0102
a0001c0001t0001g0103
a0001c0001t0001g0105
a0001c0001t0001g0106
a0001c0001t0001g0110
a0001c0001t0001g0114
a0001c0001t0001g0121
a0001c0001t0001g0123
a0001c0001t0001g0128
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0158
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0211
a0001c0001t0001g0214
a0001c0001t0001g0215
a0001c0001t0002g0039
a0001c0001t0002g0120
a0001c0001t0002g0140
a0001c0001t0002g0141
a0001c0001t0002g0147
a0001c0001t0002g0153
a0001c0001t0002g0168
a0001c0001t0002g0170
a0001c0001t0002g0176
a0001c0001t0002g0180
a0001c0001t0002g0195
a0001c0001t0002g0196
a0001c0001t0002g0200
a0001c0001t0002g0201
a0001c0001t0002g0218
a0001c0001t0005g0165
a0001c0003t0001g0013
a0002c0002t0001g0009
a0002c0002t0001g0026
a0002c0002t0001g0031
a0002c0002t0001g0042
a0002c0002t0001g0044
a0002c0002t0001g0055
a0002c0002t0001g0066
a0002c0002t0001g0069
a0002c0002t0001g0073
a0002c0002t0001g0074
a0002c0002t0001g0085
a0002c0002t0001g0087
a0002c0002t0001g0089
a0002c0002t0001g0095
a0002c0002t0001g0099
a0002c0002t0001g0108
a0002c0002t0001g0125
a0002c0002t0001g0126
a0002c0002t0001g0127
a0002c0002t0001g0129
a0002c0002t0001g0151
a0002c0002t0001g0175
a0002c0002t0001g0185
a0002c0002t0001g0208
a0002c0002t0001g0210
a0002c0002t0002g0096
a0002c0002t0002g0112
a0002c0002t0002g0131
a0002c0002t0002g0146
a0002c0002t0002g0162
a0002c0002t0002g0163
a0002c0002t0002g0166
a0002c0002t0002g0172
a0002c0002t0002g0178
a0002c0002t0002g0183
a0002c0002t0002g0186
a0002c0002t0002g0191
a0002c0002t0002g0199
a0002c0002t0002g0207
a0002c0002t0002g0213
a0002c0006t0001g0187
a0002c0010t0001g0010
a0003c0005t0001g0202
a0003c0009t0001g0011
a0004c0004t0001g0169
a0005c0016t0001g0045
a0006c0011t0001g0139
a0007c0012t0001g0109
a0008c0013t0001g0101
a0009c0014t0002g0075
a0011c0008t0001g0034
a0012c0007t0001g0036
 111 HG00099.hp1
HG00438.hp1
HG00544.hp1
others(108): Show 
HG00099.hp1
HG00438.hp1
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00639.hp1
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00741.hp1
HG01070.hp1
HG01081.hp2
HG01123.hp1
HG01168.hp1
HG01256.hp1
HG01257.hp1
HG01257.hp2
HG01496.hp1
HG01496.hp2
HG01516.hp2
HG01517.hp2
HG01884.hp1
HG01891.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02148.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp2
HG02273.hp1
HG02273.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02523.hp2
HG02559.hp2
HG02622.hp1
HG02622.hp2
HG02683.hp2
HG02723.hp1
HG02809.hp1
HG02886.hp1
HG02896.hp1
HG02922.hp1
HG02922.hp2
HG02976.hp1
HG03041.hp1
HG03041.hp2
HG03195.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp2
HG03491.hp2
HG03704.hp2
HG03831.hp1
HG03834.hp2
HG03927.hp2
HG04204.hp2
NA18939.hp1
NA18941.hp1
NA18942.hp1
NA18942.hp2
NA18947.hp2
NA18949.hp1
NA18950.hp1
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp2
NA18963.hp1
NA18968.hp1
NA18969.hp2
NA18973.hp2
NA18975.hp1
NA18981.hp1
NA18998.hp1
NA18999.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19010.hp1
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19057.hp1
NA19064.hp1
NA19074.hp1
NA19074.hp2
NA19077.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp2
NA19082.hp1
NA19085.hp1
NA19091.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA21309.hp1
 intron_variant MODIFIER c.562+1156delT
c.562+1156delT
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 5/8 INFO_REALIGN_3_PRIME chrX 1631084
chrX:1631084
GTT
GTT
 G
G
 1 a0001c0001t0001g0064
a0001c0001t0001g0064
 1 HG02148.hp2
HG02148.hp2
 intron_variant MODIFIER c.562+1155_562+1156d
others(4): Show 
c.562+1155_562+1156delTT
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 5/8 INFO_REALIGN_3_PRIME chrX 1631084
chrX:1631085
T
T
 G
G
 1 a0001c0001t0002g0161
a0001c0001t0002g0161
 1 NA19057.hp2
NA19057.hp2
 intron_variant MODIFIER c.562+1146T>G
c.562+1146T>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 5/8 chrX 1631085
chrX:1631108
G
G
 C
C
 4 a0001c0001t0001g0005
a0001c0001t0001g0058
a0001c0001t0002g0167
others(1): Show 
a0001c0001t0001g0005
a0001c0001t0001g0058
a0001c0001t0002g0167
a0014c0018t0001g0060
 4 NA18975.hp2
NA18980.hp2
NA18981.hp2
others(1): Show 
NA18975.hp2
NA18980.hp2
NA18981.hp2
NA18988.hp1
 intron_variant MODIFIER c.562+1169G>C
c.562+1169G>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 5/8 chrX 1631108
chrX:1631113
TC
TC
 T
T
 1 a0001c0001t0002g0161
a0001c0001t0002g0161
 1 NA19057.hp2
NA19057.hp2
 intron_variant MODIFIER c.562+1176delC
c.562+1176delC
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 5/8 INFO_REALIGN_3_PRIME chrX 1631113
chrX:1631123
C
C
 T
T
 30 a0001c0001t0001g0008
a0001c0001t0001g0028
a0001c0001t0001g0029
others(27): Show 
a0001c0001t0001g0008
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0061
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0068
a0001c0001t0001g0071
a0001c0001t0001g0084
a0001c0001t0001g0086
a0001c0001t0001g0121
a0001c0001t0001g0138
a0001c0001t0001g0158
a0001c0001t0001g0211
a0001c0001t0001g0214
a0001c0001t0001g0215
a0001c0001t0002g0039
a0001c0001t0002g0147
a0001c0001t0002g0168
a0001c0001t0002g0170
a0001c0001t0002g0176
a0001c0001t0002g0200
a0001c0001t0002g0201
a0002c0002t0001g0031
a0002c0002t0001g0074
a0002c0002t0001g0085
a0002c0002t0001g0175
 30 HG00639.hp1
HG01070.hp1
HG01071.hp1
others(27): Show 
HG00639.hp1
HG01070.hp1
HG01071.hp1
HG01081.hp2
HG01346.hp2
HG01496.hp1
HG01884.hp1
HG01981.hp1
HG01993.hp2
HG02004.hp1
HG02148.hp2
HG02165.hp1
HG02451.hp1
HG02622.hp1
HG02896.hp1
HG03041.hp1
HG03041.hp2
HG03195.hp2
NA18947.hp2
NA18950.hp1
NA18954.hp1
NA18969.hp2
NA18998.hp1
NA18999.hp1
NA19002.hp2
NA19011.hp1
NA19081.hp2
NA19240.hp2
NA20129.hp1
NA21309.hp1
 intron_variant MODIFIER c.562+1184C>T
c.562+1184C>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 5/8 chrX 1631123
chrX:1631159
C
C
 T
T
 1 a0012c0007t0001g0036
a0012c0007t0001g0036
 1 NA19082.hp1
NA19082.hp1
 intron_variant MODIFIER c.562+1220C>T
c.562+1220C>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 5/8 chrX 1631159
chrX:1631166
C
C
 T
T
 7 a0001c0001t0001g0008
a0001c0001t0001g0071
a0001c0001t0001g0138
others(4): Show 
a0001c0001t0001g0008
a0001c0001t0001g0071
a0001c0001t0001g0138
a0001c0001t0001g0158
a0001c0001t0001g0211
a0001c0001t0001g0215
a0002c0002t0001g0175
 7 HG01884.hp1
HG02451.hp1
HG02896.hp1
others(4): Show 
HG01884.hp1
HG02451.hp1
HG02896.hp1
HG03041.hp1
HG03195.hp2
NA19240.hp2
NA20129.hp1
 intron_variant MODIFIER c.562+1227C>T
c.562+1227C>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 5/8 chrX 1631166
chrX:1631167
G
G
 A
A
 26 a0001c0001t0001g0001
a0001c0001t0001g0043
a0001c0001t0001g0046
others(23): Show 
a0001c0001t0001g0001
a0001c0001t0001g0043
a0001c0001t0001g0046
a0001c0001t0001g0077
a0001c0001t0001g0079
a0001c0001t0001g0174
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0209
a0001c0001t0002g0145
a0001c0001t0003g0090
a0001c0003t0001g0070
a0001c0003t0001g0091
a0002c0002t0001g0018
a0002c0002t0001g0054
a0002c0002t0001g0088
a0002c0002t0001g0089
a0002c0002t0001g0119
a0002c0002t0001g0189
a0002c0002t0002g0154
a0002c0002t0002g0181
a0002c0002t0002g0188
a0002c0002t0002g0191
a0002c0002t0002g0199
a0002c0002t0002g0216
a0002c0006t0001g0104
 27 HG00099.hp2
HG00597.hp2
HG00639.hp2
others(24): Show 
HG00099.hp2
HG00597.hp2
HG00639.hp2
HG00733.hp1
HG01081.hp1
HG01168.hp2
HG01516.hp2
HG01517.hp2
HG01884.hp2
HG02451.hp2
HG02559.hp1
HG02630.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02976.hp2
HG03669.hp1
HG03669.hp2
HG03834.hp1
HG06807.hp2
NA18955.hp1
NA18974.hp1
NA18998.hp2
NA19081.hp1
NA19240.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.562+1228G>A
c.562+1228G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 5/8 chrX 1631167
chrX:1631199
C
C
 G
G
 39 a0002c0002t0001g0009
a0002c0002t0001g0026
a0002c0002t0001g0042
others(36): Show 
a0002c0002t0001g0009
a0002c0002t0001g0026
a0002c0002t0001g0042
a0002c0002t0001g0044
a0002c0002t0001g0055
a0002c0002t0001g0066
a0002c0002t0001g0069
a0002c0002t0001g0073
a0002c0002t0001g0087
a0002c0002t0001g0095
a0002c0002t0001g0099
a0002c0002t0001g0108
a0002c0002t0001g0125
a0002c0002t0001g0126
a0002c0002t0001g0127
a0002c0002t0001g0129
a0002c0002t0001g0151
a0002c0002t0001g0185
a0002c0002t0001g0208
a0002c0002t0001g0210
a0002c0002t0002g0096
a0002c0002t0002g0112
a0002c0002t0002g0131
a0002c0002t0002g0146
a0002c0002t0002g0162
a0002c0002t0002g0163
a0002c0002t0002g0166
a0002c0002t0002g0172
a0002c0002t0002g0178
a0002c0002t0002g0183
a0002c0002t0002g0186
a0002c0002t0002g0207
a0002c0002t0002g0213
a0002c0006t0001g0187
a0002c0010t0001g0010
a0004c0004t0001g0169
a0007c0012t0001g0109
a0011c0008t0001g0034
a0012c0007t0001g0036
 39 HG00438.hp1
HG00544.hp2
HG00597.hp1
others(36): Show 
HG00438.hp1
HG00544.hp2
HG00597.hp1
HG00733.hp2
HG01168.hp1
HG01256.hp1
HG01891.hp1
HG01978.hp2
HG02004.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02155.hp2
HG02273.hp2
HG02293.hp2
HG02523.hp2
HG02622.hp2
HG02886.hp1
HG02976.hp1
HG03239.hp1
HG03239.hp2
HG04204.hp2
NA18941.hp1
NA18942.hp1
NA18942.hp2
NA18954.hp2
NA18963.hp1
NA18968.hp1
NA18975.hp1
NA18981.hp1
NA18999.hp2
NA19003.hp1
NA19057.hp1
NA19064.hp1
NA19074.hp1
NA19077.hp2
NA19080.hp2
NA19082.hp1
NA20129.hp2
 intron_variant MODIFIER c.562+1260C>G
c.562+1260C>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 5/8 chrX 1631199
chrX:1631206
G
G
 A
A
 1 a0001c0001t0001g0053
a0001c0001t0001g0053
 1 HG01257.hp1
HG01257.hp1
 intron_variant MODIFIER c.562+1267G>A
c.562+1267G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 5/8 chrX 1631206
chrX:1631224
CT
CT
 C
C
 1 a0001c0001t0002g0161
a0001c0001t0002g0161
 1 NA19057.hp2
NA19057.hp2
 intron_variant MODIFIER c.562+1291delT
c.562+1291delT
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 5/8 INFO_REALIGN_3_PRIME chrX 1631224
chrX:1631300
C
C
 T
T
 21 a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0047
others(18): Show 
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0061
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0068
a0001c0001t0001g0084
a0001c0001t0001g0086
a0001c0001t0001g0121
a0001c0001t0002g0039
a0001c0001t0002g0147
a0001c0001t0002g0168
a0001c0001t0002g0170
a0001c0001t0002g0176
a0001c0001t0002g0200
a0001c0001t0002g0201
a0002c0002t0001g0031
a0002c0002t0001g0085
 21 HG00639.hp1
HG01070.hp1
HG01071.hp1
others(18): Show 
HG00639.hp1
HG01070.hp1
HG01071.hp1
HG01081.hp2
HG01346.hp2
HG01496.hp1
HG01981.hp1
HG01993.hp2
HG02004.hp1
HG02148.hp2
HG02165.hp1
HG03041.hp2
NA18947.hp2
NA18950.hp1
NA18954.hp1
NA18969.hp2
NA18998.hp1
NA18999.hp1
NA19002.hp2
NA19011.hp1
NA19081.hp2
 intron_variant MODIFIER c.562+1361C>T
c.562+1361C>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 5/8 chrX 1631300
chrX:1631300
CG
CG
 C
C
 1 a0001c0001t0002g0161
a0001c0001t0002g0161
 1 NA19057.hp2
NA19057.hp2
 intron_variant MODIFIER c.562+1363delG
c.562+1363delG
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 5/8 INFO_REALIGN_3_PRIME chrX 1631300
chrX:1631323
G
G
 C
C
 1 a0006c0011t0001g0139
a0006c0011t0001g0139
 1 HG02559.hp2
HG02559.hp2
 intron_variant MODIFIER c.563-1381G>C
c.563-1381G>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 5/8 chrX 1631323
chrX:1631346
C
C
 T
T
 21 a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0047
others(18): Show 
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0061
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0068
a0001c0001t0001g0084
a0001c0001t0001g0086
a0001c0001t0001g0121
a0001c0001t0002g0039
a0001c0001t0002g0147
a0001c0001t0002g0168
a0001c0001t0002g0170
a0001c0001t0002g0176
a0001c0001t0002g0200
a0001c0001t0002g0201
a0002c0002t0001g0031
a0002c0002t0001g0085
 21 HG00639.hp1
HG01070.hp1
HG01071.hp1
others(18): Show 
HG00639.hp1
HG01070.hp1
HG01071.hp1
HG01081.hp2
HG01346.hp2
HG01496.hp1
HG01981.hp1
HG01993.hp2
HG02004.hp1
HG02148.hp2
HG02165.hp1
HG03041.hp2
NA18947.hp2
NA18950.hp1
NA18954.hp1
NA18969.hp2
NA18998.hp1
NA18999.hp1
NA19002.hp2
NA19011.hp1
NA19081.hp2
 intron_variant MODIFIER c.563-1358C>T
c.563-1358C>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 5/8 chrX 1631346
chrX:1631379
C
C
 T
T
 1 a0002c0002t0001g0175
a0002c0002t0001g0175
 1 NA19240.hp2
NA19240.hp2
 intron_variant MODIFIER c.563-1325C>T
c.563-1325C>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 5/8 chrX 1631379
chrX:1631417
C
C
 T
T
 85 a0001c0001t0001g0016
a0001c0001t0001g0024
a0001c0001t0001g0025
others(82): Show 
a0001c0001t0001g0016
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0035
a0001c0001t0001g0037
a0001c0001t0001g0040
a0001c0001t0001g0049
a0001c0001t0001g0053
a0001c0001t0001g0056
a0001c0001t0001g0072
a0001c0001t0001g0076
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0100
a0001c0001t0001g0102
a0001c0001t0001g0103
a0001c0001t0001g0105
a0001c0001t0001g0106
a0001c0001t0001g0110
a0001c0001t0001g0114
a0001c0001t0001g0123
a0001c0001t0001g0128
a0001c0001t0001g0137
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0212
a0001c0001t0002g0120
a0001c0001t0002g0140
a0001c0001t0002g0141
a0001c0001t0002g0153
a0001c0001t0002g0180
a0001c0001t0002g0184
a0001c0001t0002g0195
a0001c0001t0002g0196
a0001c0001t0002g0218
a0001c0001t0005g0165
a0001c0003t0001g0013
a0001c0003t0001g0171
a0002c0002t0001g0009
a0002c0002t0001g0026
a0002c0002t0001g0042
a0002c0002t0001g0044
a0002c0002t0001g0055
a0002c0002t0001g0066
a0002c0002t0001g0069
a0002c0002t0001g0073
a0002c0002t0001g0087
a0002c0002t0001g0095
a0002c0002t0001g0099
a0002c0002t0001g0108
a0002c0002t0001g0125
a0002c0002t0001g0126
a0002c0002t0001g0127
a0002c0002t0001g0129
a0002c0002t0001g0151
a0002c0002t0001g0185
a0002c0002t0001g0208
a0002c0002t0001g0210
a0002c0002t0002g0096
a0002c0002t0002g0112
a0002c0002t0002g0146
a0002c0002t0002g0162
a0002c0002t0002g0163
a0002c0002t0002g0166
a0002c0002t0002g0172
a0002c0002t0002g0178
a0002c0002t0002g0183
a0002c0002t0002g0186
a0002c0002t0002g0207
a0002c0002t0002g0213
a0002c0006t0001g0187
a0002c0010t0001g0010
a0003c0005t0001g0004
a0003c0005t0001g0202
a0003c0009t0001g0011
a0004c0004t0001g0169
a0005c0016t0001g0045
a0006c0011t0001g0139
a0007c0012t0001g0109
a0008c0013t0001g0101
a0011c0008t0001g0034
a0012c0007t0001g0036
 85 HG00099.hp1
HG00323.hp1
HG00438.hp1
others(82): Show 
HG00099.hp1
HG00323.hp1
HG00438.hp1
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00733.hp2
HG00735.hp1
HG00741.hp1
HG01123.hp1
HG01168.hp1
HG01256.hp1
HG01257.hp1
HG01257.hp2
HG01496.hp2
HG01891.hp1
HG01891.hp2
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp2
HG01993.hp1
HG02004.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02148.hp1
HG02155.hp2
HG02165.hp2
HG02257.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02523.hp2
HG02559.hp2
HG02622.hp2
HG02723.hp1
HG02809.hp1
HG02886.hp1
HG02922.hp1
HG02922.hp2
HG02976.hp1
HG03239.hp1
HG03239.hp2
HG03453.hp2
HG03491.hp2
HG03704.hp2
HG03831.hp1
HG03834.hp2
HG03927.hp2
HG04204.hp2
NA18939.hp1
NA18941.hp1
NA18942.hp1
NA18942.hp2
NA18949.hp1
NA18951.hp1
NA18951.hp2
NA18954.hp2
NA18956.hp2
NA18963.hp1
NA18968.hp1
NA18973.hp2
NA18975.hp1
NA18981.hp1
NA18999.hp2
NA19002.hp1
NA19003.hp1
NA19010.hp1
NA19030.hp1
NA19030.hp2
NA19057.hp1
NA19074.hp1
NA19074.hp2
NA19077.hp2
NA19080.hp1
NA19080.hp2
NA19082.hp1
NA19085.hp1
NA19091.hp1
NA20129.hp2
NA20300.hp2
NA21309.hp2
 intron_variant MODIFIER c.563-1287C>T
c.563-1287C>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 5/8 chrX 1631417
chrX:1631597
T
T
 C
C
 1 a0002c0002t0002g0188
a0002c0002t0002g0188
 1 HG03669.hp1
HG03669.hp1
 intron_variant MODIFIER c.563-1107T>C
c.563-1107T>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 5/8 chrX 1631597
chrX:1631636
C
C
 CG
CG
 1 a0001c0001t0002g0161
a0001c0001t0002g0161
 1 NA19057.hp2
NA19057.hp2
 intron_variant MODIFIER c.563-1065dupG
c.563-1065dupG
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 5/8 INFO_REALIGN_3_PRIME chrX 1631636
chrX:1631644
G
G
 A
A
 40 a0001c0001t0001g0212
a0001c0001t0002g0184
a0002c0002t0001g0009
others(37): Show 
a0001c0001t0001g0212
a0001c0001t0002g0184
a0002c0002t0001g0009
a0002c0002t0001g0026
a0002c0002t0001g0042
a0002c0002t0001g0044
a0002c0002t0001g0055
a0002c0002t0001g0066
a0002c0002t0001g0069
a0002c0002t0001g0073
a0002c0002t0001g0087
a0002c0002t0001g0095
a0002c0002t0001g0099
a0002c0002t0001g0108
a0002c0002t0001g0125
a0002c0002t0001g0126
a0002c0002t0001g0127
a0002c0002t0001g0129
a0002c0002t0001g0151
a0002c0002t0001g0185
a0002c0002t0001g0208
a0002c0002t0001g0210
a0002c0002t0002g0096
a0002c0002t0002g0112
a0002c0002t0002g0131
a0002c0002t0002g0146
a0002c0002t0002g0162
a0002c0002t0002g0163
a0002c0002t0002g0166
a0002c0002t0002g0172
a0002c0002t0002g0178
a0002c0002t0002g0183
a0002c0002t0002g0186
a0002c0002t0002g0207
a0002c0002t0002g0213
a0002c0006t0001g0187
a0004c0004t0001g0169
a0007c0012t0001g0109
a0011c0008t0001g0034
a0012c0007t0001g0036
 40 HG00438.hp1
HG00544.hp2
HG00597.hp1
others(37): Show 
HG00438.hp1
HG00544.hp2
HG00597.hp1
HG00733.hp2
HG01168.hp1
HG01256.hp1
HG01891.hp1
HG01891.hp2
HG01978.hp2
HG02004.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02155.hp2
HG02273.hp2
HG02280.hp2
HG02293.hp2
HG02523.hp2
HG02886.hp1
HG02976.hp1
HG03239.hp1
HG03239.hp2
HG04204.hp2
NA18941.hp1
NA18942.hp1
NA18942.hp2
NA18954.hp2
NA18963.hp1
NA18968.hp1
NA18975.hp1
NA18981.hp1
NA18999.hp2
NA19003.hp1
NA19057.hp1
NA19064.hp1
NA19074.hp1
NA19077.hp2
NA19080.hp2
NA19082.hp1
NA20129.hp2
 intron_variant MODIFIER c.563-1060G>A
c.563-1060G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 5/8 chrX 1631644
chrX:1631662
C
C
 A
A
 17 a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0061
others(14): Show 
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0061
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0068
a0001c0001t0001g0084
a0001c0001t0001g0086
a0001c0001t0002g0039
a0001c0001t0002g0147
a0001c0001t0002g0170
a0001c0001t0002g0176
a0001c0001t0002g0200
a0001c0001t0002g0201
a0002c0002t0001g0031
a0002c0002t0001g0085
 17 HG01081.hp2
HG01346.hp2
HG01496.hp1
others(14): Show 
HG01081.hp2
HG01346.hp2
HG01496.hp1
HG01981.hp1
HG01993.hp2
HG02004.hp1
HG02148.hp2
HG02165.hp1
NA18947.hp2
NA18950.hp1
NA18954.hp1
NA18969.hp2
NA18998.hp1
NA18999.hp1
NA19002.hp2
NA19011.hp1
NA19081.hp2
 intron_variant MODIFIER c.563-1042C>A
c.563-1042C>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 5/8 chrX 1631662
chrX:1631730
C
C
 T
T
 18 a0001c0001t0002g0152
a0001c0001t0002g0157
a0001c0001t0002g0164
others(15): Show 
a0001c0001t0002g0152
a0001c0001t0002g0157
a0001c0001t0002g0164
a0001c0003t0002g0155
a0002c0002t0001g0003
a0002c0002t0001g0052
a0002c0002t0001g0057
a0002c0002t0001g0078
a0002c0002t0001g0098
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0124
a0002c0002t0001g0130
a0002c0002t0001g0222
a0002c0002t0002g0156
a0002c0002t0002g0198
a0002c0002t0002g0217
a0004c0004t0004g0148
 18 HG00423.hp1
HG00735.hp2
HG01123.hp2
others(15): Show 
HG00423.hp1
HG00735.hp2
HG01123.hp2
HG01175.hp2
HG01346.hp1
HG01361.hp1
HG01361.hp2
HG01516.hp1
HG01517.hp1
HG02602.hp2
HG03704.hp1
HG03831.hp2
HG03927.hp1
NA18939.hp2
NA18949.hp2
NA18977.hp2
NA19003.hp2
NA19062.hp1
 intron_variant MODIFIER c.563-974C>T
c.563-974C>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 5/8 chrX 1631730
chrX:1631740
T
T
 C
C
 22 a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0047
others(19): Show 
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0061
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0068
a0001c0001t0001g0084
a0001c0001t0001g0086
a0001c0001t0001g0121
a0001c0001t0002g0039
a0001c0001t0002g0147
a0001c0001t0002g0168
a0001c0001t0002g0170
a0001c0001t0002g0176
a0001c0001t0002g0200
a0001c0001t0002g0201
a0002c0002t0001g0031
a0002c0002t0001g0085
a0009c0014t0002g0075
 22 HG00639.hp1
HG01070.hp1
HG01071.hp1
others(19): Show 
HG00639.hp1
HG01070.hp1
HG01071.hp1
HG01081.hp2
HG01346.hp2
HG01496.hp1
HG01981.hp1
HG01993.hp2
HG02004.hp1
HG02148.hp2
HG02165.hp1
HG02683.hp2
HG03041.hp2
NA18947.hp2
NA18950.hp1
NA18954.hp1
NA18969.hp2
NA18998.hp1
NA18999.hp1
NA19002.hp2
NA19011.hp1
NA19081.hp2
 intron_variant MODIFIER c.563-964T>C
c.563-964T>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 5/8 chrX 1631740
chrX:1631743
C
C
 T
T
 43 a0001c0001t0001g0016
a0001c0001t0001g0024
a0001c0001t0001g0025
others(40): Show 
a0001c0001t0001g0016
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0035
a0001c0001t0001g0037
a0001c0001t0001g0040
a0001c0001t0001g0049
a0001c0001t0001g0053
a0001c0001t0001g0056
a0001c0001t0001g0076
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0100
a0001c0001t0001g0102
a0001c0001t0001g0103
a0001c0001t0001g0105
a0001c0001t0001g0106
a0001c0001t0001g0110
a0001c0001t0001g0114
a0001c0001t0001g0128
a0001c0001t0001g0137
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0002g0120
a0001c0001t0002g0140
a0001c0001t0002g0141
a0001c0001t0002g0144
a0001c0001t0002g0153
a0001c0001t0002g0180
a0001c0001t0002g0195
a0001c0001t0002g0196
a0001c0001t0002g0218
a0001c0001t0005g0165
a0001c0003t0001g0013
a0001c0003t0001g0171
a0003c0005t0001g0004
a0003c0005t0001g0202
a0003c0009t0001g0011
a0005c0016t0001g0045
a0008c0013t0001g0101
 43 HG00099.hp1
HG00323.hp1
HG00544.hp1
others(40): Show 
HG00099.hp1
HG00323.hp1
HG00544.hp1
HG00735.hp1
HG00741.hp1
HG01123.hp1
HG01257.hp1
HG01257.hp2
HG01496.hp2
HG01975.hp2
HG01978.hp1
HG01981.hp2
HG01993.hp1
HG02148.hp1
HG02165.hp2
HG02257.hp2
HG02273.hp1
HG02293.hp1
HG02723.hp1
HG02922.hp1
HG02922.hp2
HG03491.hp2
HG03704.hp2
HG03831.hp1
HG03834.hp2
HG03927.hp2
NA18906.hp2
NA18939.hp1
NA18949.hp1
NA18951.hp1
NA18951.hp2
NA18956.hp2
NA18973.hp2
NA19002.hp1
NA19010.hp1
NA19030.hp1
NA19030.hp2
NA19074.hp2
NA19080.hp1
NA19085.hp1
NA19091.hp1
NA20300.hp2
NA21309.hp2
 intron_variant MODIFIER c.563-961C>T
c.563-961C>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 5/8 chrX 1631743
chrX:1631744
G
G
 A
A
 1 a0002c0002t0001g0099
a0002c0002t0001g0099
 1 NA19077.hp2
NA19077.hp2
 intron_variant MODIFIER c.563-960G>A
c.563-960G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 5/8 chrX 1631744
chrX:1631821
G
G
 A
A
 1 a0002c0002t0001g0175
a0002c0002t0001g0175
 1 NA19240.hp2
NA19240.hp2
 intron_variant MODIFIER c.563-883G>A
c.563-883G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 5/8 chrX 1631821
chrX:1631845
T
T
 C
C
 169 a0001c0001t0001g0001
a0001c0001t0001g0008
a0001c0001t0001g0016
others(166): Show 
a0001c0001t0001g0001
a0001c0001t0001g0008
a0001c0001t0001g0016
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0035
a0001c0001t0001g0037
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0053
a0001c0001t0001g0056
a0001c0001t0001g0061
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0068
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0079
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0086
a0001c0001t0001g0100
a0001c0001t0001g0102
a0001c0001t0001g0103
a0001c0001t0001g0105
a0001c0001t0001g0106
a0001c0001t0001g0110
a0001c0001t0001g0114
a0001c0001t0001g0121
a0001c0001t0001g0123
a0001c0001t0001g0128
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0158
a0001c0001t0001g0174
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0209
a0001c0001t0001g0211
a0001c0001t0001g0214
a0001c0001t0001g0215
a0001c0001t0002g0039
a0001c0001t0002g0120
a0001c0001t0002g0140
a0001c0001t0002g0141
a0001c0001t0002g0144
a0001c0001t0002g0145
a0001c0001t0002g0147
a0001c0001t0002g0152
a0001c0001t0002g0153
a0001c0001t0002g0157
a0001c0001t0002g0164
a0001c0001t0002g0168
a0001c0001t0002g0170
a0001c0001t0002g0176
a0001c0001t0002g0180
a0001c0001t0002g0190
a0001c0001t0002g0195
a0001c0001t0002g0196
a0001c0001t0002g0200
a0001c0001t0002g0201
a0001c0001t0002g0218
a0001c0001t0003g0090
a0001c0001t0005g0165
a0001c0003t0001g0013
a0001c0003t0001g0070
a0001c0003t0001g0091
a0001c0003t0001g0171
a0001c0003t0002g0155
a0002c0002t0001g0002
a0002c0002t0001g0003
a0002c0002t0001g0009
a0002c0002t0001g0015
a0002c0002t0001g0018
a0002c0002t0001g0020
a0002c0002t0001g0026
a0002c0002t0001g0031
a0002c0002t0001g0042
a0002c0002t0001g0044
a0002c0002t0001g0052
a0002c0002t0001g0054
a0002c0002t0001g0055
a0002c0002t0001g0057
a0002c0002t0001g0066
a0002c0002t0001g0069
a0002c0002t0001g0073
a0002c0002t0001g0074
a0002c0002t0001g0078
a0002c0002t0001g0085
a0002c0002t0001g0087
a0002c0002t0001g0088
a0002c0002t0001g0089
a0002c0002t0001g0095
a0002c0002t0001g0098
a0002c0002t0001g0099
a0002c0002t0001g0108
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0119
a0002c0002t0001g0122
a0002c0002t0001g0124
a0002c0002t0001g0125
a0002c0002t0001g0126
a0002c0002t0001g0127
a0002c0002t0001g0129
a0002c0002t0001g0130
a0002c0002t0001g0151
a0002c0002t0001g0175
a0002c0002t0001g0185
a0002c0002t0001g0189
a0002c0002t0001g0208
a0002c0002t0001g0210
a0002c0002t0001g0221
a0002c0002t0001g0222
a0002c0002t0002g0096
a0002c0002t0002g0112
a0002c0002t0002g0131
a0002c0002t0002g0136
a0002c0002t0002g0146
a0002c0002t0002g0154
a0002c0002t0002g0156
a0002c0002t0002g0159
a0002c0002t0002g0160
a0002c0002t0002g0162
a0002c0002t0002g0163
a0002c0002t0002g0166
a0002c0002t0002g0172
a0002c0002t0002g0178
a0002c0002t0002g0181
a0002c0002t0002g0183
a0002c0002t0002g0186
a0002c0002t0002g0188
a0002c0002t0002g0191
a0002c0002t0002g0198
a0002c0002t0002g0199
a0002c0002t0002g0207
a0002c0002t0002g0213
a0002c0002t0002g0216
a0002c0002t0002g0217
a0002c0006t0001g0104
a0002c0006t0001g0187
a0002c0010t0001g0010
a0003c0005t0001g0004
a0003c0005t0001g0202
a0003c0009t0001g0011
a0004c0004t0001g0169
a0004c0004t0004g0148
a0005c0016t0001g0045
a0006c0011t0001g0139
a0007c0012t0001g0109
a0008c0013t0001g0101
a0009c0014t0002g0075
a0011c0008t0001g0034
a0012c0007t0001g0036
 170 HG00099.hp1
HG00099.hp2
HG00323.hp1
others(167): Show 
HG00099.hp1
HG00099.hp2
HG00323.hp1
HG00423.hp1
HG00438.hp1
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00597.hp2
HG00639.hp1
HG00639.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00741.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01081.hp1
HG01081.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp2
HG01256.hp1
HG01257.hp1
HG01257.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01496.hp1
HG01496.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02148.hp1
HG02148.hp2
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02683.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03195.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03486.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG04204.hp2
HG06807.hp2
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp1
NA18942.hp1
NA18942.hp2
NA18947.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18956.hp2
NA18963.hp1
NA18968.hp1
NA18969.hp2
NA18973.hp2
NA18974.hp1
NA18975.hp1
NA18977.hp2
NA18981.hp1
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19010.hp1
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19057.hp1
NA19062.hp1
NA19064.hp1
NA19074.hp1
NA19074.hp2
NA19077.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19082.hp1
NA19085.hp1
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.563-859T>C
c.563-859T>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 5/8 chrX 1631845
chrX:1631875
C
C
 CG
CG
 2 a0001c0001t0001g0027
a0001c0003t0002g0182
a0001c0001t0001g0027
a0001c0003t0002g0182
 2 HG01978.hp1
NA18985.hp1
HG01978.hp1
NA18985.hp1
 intron_variant MODIFIER c.563-827dupG
c.563-827dupG
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 5/8 INFO_REALIGN_3_PRIME chrX 1631875
chrX:1631890
A
A
 G
G
 21 a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0047
others(18): Show 
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0061
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0068
a0001c0001t0001g0084
a0001c0001t0001g0086
a0001c0001t0001g0121
a0001c0001t0002g0039
a0001c0001t0002g0147
a0001c0001t0002g0168
a0001c0001t0002g0170
a0001c0001t0002g0176
a0001c0001t0002g0200
a0001c0001t0002g0201
a0002c0002t0001g0031
a0002c0002t0001g0085
 21 HG00639.hp1
HG01070.hp1
HG01071.hp1
others(18): Show 
HG00639.hp1
HG01070.hp1
HG01071.hp1
HG01081.hp2
HG01346.hp2
HG01496.hp1
HG01981.hp1
HG01993.hp2
HG02004.hp1
HG02148.hp2
HG02165.hp1
HG03041.hp2
NA18947.hp2
NA18950.hp1
NA18954.hp1
NA18969.hp2
NA18998.hp1
NA18999.hp1
NA19002.hp2
NA19011.hp1
NA19081.hp2
 intron_variant MODIFIER c.563-814A>G
c.563-814A>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 5/8 chrX 1631890
chrX:1631915
A
A
 G
G
 85 a0001c0001t0001g0001
a0001c0001t0001g0008
a0001c0001t0001g0028
others(82): Show 
a0001c0001t0001g0001
a0001c0001t0001g0008
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0043
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0061
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0068
a0001c0001t0001g0071
a0001c0001t0001g0077
a0001c0001t0001g0079
a0001c0001t0001g0084
a0001c0001t0001g0086
a0001c0001t0001g0121
a0001c0001t0001g0138
a0001c0001t0001g0158
a0001c0001t0001g0174
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0209
a0001c0001t0001g0211
a0001c0001t0001g0215
a0001c0001t0002g0039
a0001c0001t0002g0145
a0001c0001t0002g0147
a0001c0001t0002g0152
a0001c0001t0002g0157
a0001c0001t0002g0164
a0001c0001t0002g0168
a0001c0001t0002g0170
a0001c0001t0002g0176
a0001c0001t0002g0190
a0001c0001t0002g0200
a0001c0001t0002g0201
a0001c0001t0003g0090
a0001c0003t0001g0070
a0001c0003t0001g0091
a0001c0003t0002g0155
a0002c0002t0001g0002
a0002c0002t0001g0003
a0002c0002t0001g0015
a0002c0002t0001g0018
a0002c0002t0001g0031
a0002c0002t0001g0052
a0002c0002t0001g0054
a0002c0002t0001g0057
a0002c0002t0001g0078
a0002c0002t0001g0085
a0002c0002t0001g0088
a0002c0002t0001g0089
a0002c0002t0001g0098
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0119
a0002c0002t0001g0122
a0002c0002t0001g0124
a0002c0002t0001g0130
a0002c0002t0001g0189
a0002c0002t0001g0221
a0002c0002t0001g0222
a0002c0002t0002g0136
a0002c0002t0002g0154
a0002c0002t0002g0156
a0002c0002t0002g0159
a0002c0002t0002g0160
a0002c0002t0002g0181
a0002c0002t0002g0188
a0002c0002t0002g0191
a0002c0002t0002g0198
a0002c0002t0002g0199
a0002c0002t0002g0216
a0002c0002t0002g0217
a0002c0006t0001g0104
a0002c0010t0001g0010
a0003c0005t0001g0004
a0003c0005t0001g0202
a0003c0009t0001g0011
a0004c0004t0004g0148
a0005c0016t0001g0045
a0009c0014t0002g0075
 86 HG00099.hp2
HG00423.hp1
HG00597.hp2
others(83): Show 
HG00099.hp2
HG00423.hp1
HG00597.hp2
HG00639.hp1
HG00639.hp2
HG00733.hp1
HG00735.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01081.hp1
HG01081.hp2
HG01123.hp2
HG01168.hp2
HG01175.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01496.hp1
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01981.hp1
HG01993.hp2
HG02004.hp1
HG02148.hp2
HG02165.hp1
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02602.hp2
HG02622.hp2
HG02630.hp1
HG02683.hp2
HG02723.hp2
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03195.hp2
HG03453.hp1
HG03486.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03831.hp2
HG03834.hp1
HG03927.hp1
HG06807.hp2
NA18939.hp2
NA18947.hp2
NA18949.hp2
NA18950.hp1
NA18954.hp1
NA18955.hp1
NA18969.hp2
NA18974.hp1
NA18977.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA19002.hp2
NA19003.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19062.hp1
NA19081.hp1
NA19081.hp2
NA19240.hp1
NA20129.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.563-789A>G
c.563-789A>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 5/8 chrX 1631915
chrX:1631970
AC
AC
 A
A
 1 a0007c0012t0001g0109
a0007c0012t0001g0109
 1 NA18963.hp1
NA18963.hp1
 intron_variant MODIFIER c.563-731delC
c.563-731delC
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 5/8 INFO_REALIGN_3_PRIME chrX 1631970
chrX:1632078
A
A
 G
G
 1 a0002c0002t0001g0020
a0002c0002t0001g0020
 1 HG02280.hp1
HG02280.hp1
 intron_variant MODIFIER c.563-626A>G
c.563-626A>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 5/8 chrX 1632078
chrX:1632187
T
T
 G
G
 7 a0001c0001t0001g0008
a0001c0001t0001g0071
a0001c0001t0001g0138
others(4): Show 
a0001c0001t0001g0008
a0001c0001t0001g0071
a0001c0001t0001g0138
a0001c0001t0001g0158
a0001c0001t0001g0211
a0001c0001t0001g0215
a0001c0001t0002g0144
 7 HG01884.hp1
HG02451.hp1
HG02896.hp1
others(4): Show 
HG01884.hp1
HG02451.hp1
HG02896.hp1
HG03041.hp1
HG03195.hp2
NA18906.hp2
NA20129.hp1
 intron_variant MODIFIER c.563-517T>G
c.563-517T>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 5/8 chrX 1632187
chrX:1632244
G
G
 T
T
 1 a0009c0014t0002g0075
a0009c0014t0002g0075
 1 HG02683.hp2
HG02683.hp2
 intron_variant MODIFIER c.563-460G>T
c.563-460G>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 5/8 chrX 1632244
chrX:1632305
C
C
 A
A
 1 a0009c0014t0002g0075
a0009c0014t0002g0075
 1 HG02683.hp2
HG02683.hp2
 intron_variant MODIFIER c.563-399C>A
c.563-399C>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 5/8 chrX 1632305
chrX:1632331
C
C
 T
T
 3 a0001c0001t0001g0083
a0001c0001t0002g0196
a0001c0001t0002g0218
a0001c0001t0001g0083
a0001c0001t0002g0196
a0001c0001t0002g0218
 3 HG00741.hp1
HG01123.hp1
HG02257.hp2
HG00741.hp1
HG01123.hp1
HG02257.hp2
 intron_variant MODIFIER c.563-373C>T
c.563-373C>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 5/8 chrX 1632331
chrX:1632332
G
G
 A
A
 5 a0003c0005t0001g0004
a0003c0005t0001g0202
a0003c0009t0001g0011
others(2): Show 
a0003c0005t0001g0004
a0003c0005t0001g0202
a0003c0009t0001g0011
a0005c0016t0001g0045
a0009c0014t0002g0075
 5 HG02683.hp2
HG02922.hp1
NA19030.hp1
others(2): Show 
HG02683.hp2
HG02922.hp1
NA19030.hp1
NA19030.hp2
NA20300.hp2
 intron_variant MODIFIER c.563-372G>A
c.563-372G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 5/8 chrX 1632332
chrX:1632340
T
T
 C
C
 3 a0002c0002t0001g0020
a0002c0002t0001g0074
a0006c0011t0001g0139
a0002c0002t0001g0020
a0002c0002t0001g0074
a0006c0011t0001g0139
 3 HG02280.hp1
HG02559.hp2
NA21309.hp1
HG02280.hp1
HG02559.hp2
NA21309.hp1
 intron_variant MODIFIER c.563-364T>C
c.563-364T>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 5/8 chrX 1632340
chrX:1632389
C
C
 T
T
 63 a0001c0001t0002g0157
a0001c0001t0002g0190
a0002c0002t0001g0002
others(60): Show 
a0001c0001t0002g0157
a0001c0001t0002g0190
a0002c0002t0001g0002
a0002c0002t0001g0003
a0002c0002t0001g0009
a0002c0002t0001g0015
a0002c0002t0001g0026
a0002c0002t0001g0042
a0002c0002t0001g0044
a0002c0002t0001g0052
a0002c0002t0001g0055
a0002c0002t0001g0057
a0002c0002t0001g0066
a0002c0002t0001g0069
a0002c0002t0001g0073
a0002c0002t0001g0078
a0002c0002t0001g0085
a0002c0002t0001g0087
a0002c0002t0001g0095
a0002c0002t0001g0098
a0002c0002t0001g0099
a0002c0002t0001g0108
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0122
a0002c0002t0001g0124
a0002c0002t0001g0125
a0002c0002t0001g0126
a0002c0002t0001g0127
a0002c0002t0001g0129
a0002c0002t0001g0130
a0002c0002t0001g0151
a0002c0002t0001g0185
a0002c0002t0001g0208
a0002c0002t0001g0210
a0002c0002t0001g0221
a0002c0002t0001g0222
a0002c0002t0002g0096
a0002c0002t0002g0112
a0002c0002t0002g0131
a0002c0002t0002g0136
a0002c0002t0002g0146
a0002c0002t0002g0156
a0002c0002t0002g0159
a0002c0002t0002g0160
a0002c0002t0002g0162
a0002c0002t0002g0163
a0002c0002t0002g0166
a0002c0002t0002g0172
a0002c0002t0002g0178
a0002c0002t0002g0183
a0002c0002t0002g0186
a0002c0002t0002g0198
a0002c0002t0002g0207
a0002c0002t0002g0213
a0002c0002t0002g0217
a0002c0006t0001g0187
a0002c0010t0001g0010
a0004c0004t0001g0169
a0004c0004t0004g0148
a0007c0012t0001g0109
a0011c0008t0001g0034
a0012c0007t0001g0036
 63 HG00423.hp1
HG00438.hp1
HG00544.hp2
others(60): Show 
HG00423.hp1
HG00438.hp1
HG00544.hp2
HG00597.hp1
HG00733.hp2
HG00735.hp2
HG01070.hp2
HG01123.hp2
HG01168.hp1
HG01175.hp2
HG01256.hp1
HG01346.hp1
HG01361.hp1
HG01361.hp2
HG01516.hp1
HG01517.hp1
HG01891.hp1
HG01978.hp2
HG02004.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02155.hp2
HG02273.hp2
HG02293.hp2
HG02523.hp2
HG02622.hp2
HG02723.hp2
HG02886.hp1
HG02896.hp2
HG02976.hp1
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03486.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03831.hp2
HG03927.hp1
HG04204.hp2
NA18939.hp2
NA18941.hp1
NA18942.hp1
NA18942.hp2
NA18947.hp2
NA18949.hp2
NA18954.hp2
NA18963.hp1
NA18968.hp1
NA18975.hp1
NA18981.hp1
NA18999.hp2
NA19003.hp1
NA19003.hp2
NA19057.hp1
NA19062.hp1
NA19064.hp1
NA19074.hp1
NA19077.hp2
NA19080.hp2
NA19082.hp1
NA20129.hp2
 intron_variant MODIFIER c.563-315C>T
c.563-315C>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 5/8 chrX 1632389
chrX:1632405
A
A
 G
G
 60 a0001c0001t0001g0006
a0001c0001t0001g0012
a0001c0001t0001g0014
others(57): Show 
a0001c0001t0001g0006
a0001c0001t0001g0012
a0001c0001t0001g0014
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0019
a0001c0001t0001g0021
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0035
a0001c0001t0001g0037
a0001c0001t0001g0040
a0001c0001t0001g0049
a0001c0001t0001g0053
a0001c0001t0001g0056
a0001c0001t0001g0072
a0001c0001t0001g0076
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0100
a0001c0001t0001g0102
a0001c0001t0001g0103
a0001c0001t0001g0105
a0001c0001t0001g0106
a0001c0001t0001g0110
a0001c0001t0001g0114
a0001c0001t0001g0123
a0001c0001t0001g0128
a0001c0001t0001g0137
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0212
a0001c0001t0001g0214
a0001c0001t0002g0120
a0001c0001t0002g0132
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0002g0140
a0001c0001t0002g0141
a0001c0001t0002g0144
a0001c0001t0002g0152
a0001c0001t0002g0153
a0001c0001t0002g0164
a0001c0001t0002g0180
a0001c0001t0002g0184
a0001c0001t0002g0195
a0001c0001t0002g0196
a0001c0001t0002g0218
a0001c0001t0005g0165
a0001c0003t0001g0013
a0001c0003t0001g0022
a0001c0003t0001g0171
a0002c0002t0001g0020
a0002c0002t0001g0074
a0002c0002t0001g0175
a0006c0011t0001g0139
a0008c0013t0001g0101
 60 HG00099.hp1
HG00323.hp1
HG00544.hp1
others(57): Show 
HG00099.hp1
HG00323.hp1
HG00544.hp1
HG00735.hp1
HG00741.hp1
HG00741.hp2
HG01123.hp1
HG01257.hp1
HG01257.hp2
HG01496.hp2
HG01891.hp2
HG01975.hp2
HG01978.hp1
HG01981.hp2
HG01993.hp1
HG02148.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02273.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02559.hp2
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02683.hp1
HG02723.hp1
HG02809.hp1
HG02922.hp2
HG03195.hp1
HG03453.hp2
HG03491.hp2
HG03540.hp1
HG03704.hp1
HG03704.hp2
HG03831.hp1
HG03834.hp2
HG03927.hp2
HG06807.hp1
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18949.hp1
NA18951.hp1
NA18951.hp2
NA18956.hp2
NA18973.hp2
NA19002.hp1
NA19010.hp1
NA19074.hp2
NA19080.hp1
NA19085.hp1
NA19091.hp1
NA19240.hp2
NA20300.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.563-299A>G
c.563-299A>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 5/8 chrX 1632405
chrX:1632406
CT
CT
 C
C
 1 a0001c0001t0002g0161
a0001c0001t0002g0161
 1 NA19057.hp2
NA19057.hp2
 intron_variant MODIFIER c.563-295delT
c.563-295delT
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 5/8 INFO_REALIGN_3_PRIME chrX 1632406
chrX:1632475
C
C
 A
A
 1 a0002c0006t0001g0187
a0002c0006t0001g0187
 1 HG00544.hp2
HG00544.hp2
 intron_variant MODIFIER c.563-229C>A
c.563-229C>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 5/8 chrX 1632475
chrX:1632487
T
T
 TA
TA
 1 a0001c0001t0002g0161
a0001c0001t0002g0161
 1 NA19057.hp2
NA19057.hp2
 intron_variant MODIFIER c.563-212dupA
c.563-212dupA
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 5/8 INFO_REALIGN_3_PRIME chrX 1632487
chrX:1632515
CG
CG
 C
C
 1 a0008c0013t0001g0101
a0008c0013t0001g0101
 1 NA18939.hp1
NA18939.hp1
 intron_variant MODIFIER c.563-188delG
c.563-188delG
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 5/8 chrX 1632515
chrX:1632518
G
G
 C
C
 47 a0001c0001t0001g0001
a0001c0001t0001g0006
a0001c0001t0001g0007
others(44): Show 
a0001c0001t0001g0001
a0001c0001t0001g0006
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0012
a0001c0001t0001g0014
a0001c0001t0001g0017
a0001c0001t0001g0019
a0001c0001t0001g0021
a0001c0001t0001g0043
a0001c0001t0001g0046
a0001c0001t0001g0071
a0001c0001t0001g0077
a0001c0001t0001g0079
a0001c0001t0001g0138
a0001c0001t0001g0158
a0001c0001t0001g0174
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0209
a0001c0001t0001g0211
a0001c0001t0001g0212
a0001c0001t0001g0215
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0002g0144
a0001c0001t0002g0145
a0001c0001t0002g0184
a0001c0001t0003g0090
a0001c0003t0001g0022
a0001c0003t0001g0091
a0002c0002t0001g0018
a0002c0002t0001g0020
a0002c0002t0001g0054
a0002c0002t0001g0074
a0002c0002t0001g0088
a0002c0002t0001g0089
a0002c0002t0001g0119
a0002c0002t0001g0189
a0002c0002t0002g0154
a0002c0002t0002g0181
a0002c0002t0002g0188
a0002c0002t0002g0191
a0002c0002t0002g0199
a0002c0002t0002g0216
a0002c0006t0001g0104
a0006c0011t0001g0139
 48 HG00099.hp2
HG00597.hp2
HG00639.hp2
others(45): Show 
HG00099.hp2
HG00597.hp2
HG00639.hp2
HG00733.hp1
HG00741.hp2
HG01081.hp1
HG01168.hp2
HG01516.hp2
HG01517.hp2
HG01884.hp1
HG01891.hp2
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02896.hp1
HG02976.hp2
HG03041.hp1
HG03195.hp1
HG03195.hp2
HG03540.hp1
HG03669.hp1
HG03669.hp2
HG03834.hp1
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18955.hp1
NA18974.hp1
NA18998.hp2
NA19081.hp1
NA19240.hp1
NA20129.hp1
NA20300.hp1
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.563-186G>C
c.563-186G>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 5/8 chrX 1632518
chrX:1632536
TC
TC
 T
T
 1 a0001c0001t0002g0161
a0001c0001t0002g0161
 1 NA19057.hp2
NA19057.hp2
 intron_variant MODIFIER c.563-165delC
c.563-165delC
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 5/8 INFO_REALIGN_3_PRIME chrX 1632536
chrX:1632554
C
C
 CT
CT
 1 a0008c0013t0001g0101
a0008c0013t0001g0101
 1 NA18939.hp1
NA18939.hp1
 intron_variant MODIFIER c.563-149dupT
c.563-149dupT
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 5/8 INFO_REALIGN_3_PRIME chrX 1632554
chrX:1632564
A
A
 AG
AG
 1 a0008c0013t0001g0101
a0008c0013t0001g0101
 1 NA18939.hp1
NA18939.hp1
 intron_variant MODIFIER c.563-139dupG
c.563-139dupG
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 5/8 INFO_REALIGN_3_PRIME chrX 1632564
chrX:1632571
C
C
 CTG
CTG
 1 a0008c0013t0001g0101
a0008c0013t0001g0101
 1 NA18939.hp1
NA18939.hp1
 intron_variant MODIFIER c.563-133_563-132ins
others(2): Show 
c.563-133_563-132insTG
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 5/8 chrX 1632571
chrX:1632576
AC
AC
 A
A
 1 a0001c0001t0001g0105
a0001c0001t0001g0105
 1 NA18973.hp2
NA18973.hp2
 intron_variant MODIFIER c.563-125delC
c.563-125delC
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 5/8 INFO_REALIGN_3_PRIME chrX 1632576
chrX:1632602
CG
CG
 C
C
 1 a0001c0001t0002g0161
a0001c0001t0002g0161
 1 NA19057.hp2
NA19057.hp2
 intron_variant MODIFIER c.563-100delG
c.563-100delG
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 5/8 INFO_REALIGN_3_PRIME chrX 1632602
chrX:1632604
G
G
 GA
GA
 1 a0001c0001t0001g0105
a0001c0001t0001g0105
 1 NA18973.hp2
NA18973.hp2
 intron_variant MODIFIER c.563-97dupA
c.563-97dupA
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 5/8 INFO_REALIGN_3_PRIME chrX 1632604
chrX:1632612
GC
GC
 G
G
 1 a0008c0013t0001g0101
a0008c0013t0001g0101
 1 NA18939.hp1
NA18939.hp1
 intron_variant MODIFIER c.563-90delC
c.563-90delC
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 5/8 INFO_REALIGN_3_PRIME chrX 1632612
chrX:1632649
T
T
 C
C
 8 a0002c0002t0001g0002
a0002c0002t0001g0015
a0002c0002t0001g0122
others(5): Show 
a0002c0002t0001g0002
a0002c0002t0001g0015
a0002c0002t0001g0122
a0002c0002t0001g0221
a0002c0002t0002g0136
a0002c0002t0002g0159
a0002c0002t0002g0160
a0002c0010t0001g0010
 8 HG01070.hp2
HG02622.hp2
HG02896.hp2
others(5): Show 
HG01070.hp2
HG02622.hp2
HG02896.hp2
HG03453.hp1
HG03486.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp2
 intron_variant MODIFIER c.563-55T>C
c.563-55T>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 5/8 chrX 1632649
chrX:1632687
G
G
 GT
GT
 1 a0008c0013t0001g0101
a0008c0013t0001g0101
 1 NA18939.hp1
NA18939.hp1
 intron_variant MODIFIER c.563-15dupT
c.563-15dupT
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 5/8 INFO_REALIGN_3_PRIME chrX 1632687
chrX:1632812
A
A
 G
G
 81 a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0016
others(78): Show 
a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0016
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0035
a0001c0001t0001g0037
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0046
a0001c0001t0001g0049
a0001c0001t0001g0053
a0001c0001t0001g0056
a0001c0001t0001g0063
a0001c0001t0001g0072
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0079
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0100
a0001c0001t0001g0102
a0001c0001t0001g0103
a0001c0001t0001g0105
a0001c0001t0001g0106
a0001c0001t0001g0110
a0001c0001t0001g0114
a0001c0001t0001g0123
a0001c0001t0001g0128
a0001c0001t0001g0137
a0001c0001t0001g0174
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0209
a0001c0001t0002g0120
a0001c0001t0002g0132
a0001c0001t0002g0140
a0001c0001t0002g0141
a0001c0001t0002g0145
a0001c0001t0002g0152
a0001c0001t0002g0153
a0001c0001t0002g0157
a0001c0001t0002g0164
a0001c0001t0002g0176
a0001c0001t0002g0180
a0001c0001t0002g0190
a0001c0001t0002g0195
a0001c0001t0002g0196
a0001c0001t0002g0200
a0001c0001t0002g0218
a0001c0001t0003g0090
a0001c0001t0005g0165
a0001c0003t0001g0013
a0001c0003t0001g0091
a0001c0003t0001g0171
a0002c0002t0001g0018
a0002c0002t0001g0054
a0002c0002t0001g0088
a0002c0002t0001g0089
a0002c0002t0001g0119
a0002c0002t0001g0189
a0002c0002t0002g0154
a0002c0002t0002g0181
a0002c0002t0002g0188
a0002c0002t0002g0191
a0002c0002t0002g0199
a0002c0002t0002g0216
a0002c0006t0001g0104
a0002c0006t0001g0187
a0003c0005t0001g0004
a0003c0005t0001g0202
a0003c0009t0001g0011
a0005c0016t0001g0045
a0008c0013t0001g0101
 82 HG00099.hp1
HG00099.hp2
HG00323.hp1
others(79): Show 
HG00099.hp1
HG00099.hp2
HG00323.hp1
HG00544.hp1
HG00544.hp2
HG00597.hp2
HG00639.hp2
HG00733.hp1
HG00735.hp1
HG00735.hp2
HG00741.hp1
HG01081.hp1
HG01081.hp2
HG01123.hp1
HG01168.hp2
HG01257.hp1
HG01257.hp2
HG01496.hp2
HG01516.hp2
HG01517.hp2
HG01975.hp2
HG01978.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02148.hp1
HG02165.hp2
HG02257.hp2
HG02273.hp1
HG02293.hp1
HG02451.hp2
HG02559.hp1
HG02602.hp2
HG02630.hp1
HG02630.hp2
HG02683.hp1
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02922.hp1
HG02922.hp2
HG02976.hp2
HG03453.hp2
HG03491.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03831.hp1
HG03834.hp1
HG03834.hp2
HG03927.hp2
HG06807.hp2
NA18939.hp1
NA18949.hp1
NA18951.hp1
NA18951.hp2
NA18955.hp1
NA18956.hp2
NA18969.hp2
NA18973.hp2
NA18974.hp1
NA18998.hp2
NA18999.hp1
NA19002.hp1
NA19002.hp2
NA19010.hp1
NA19030.hp1
NA19030.hp2
NA19074.hp2
NA19080.hp1
NA19081.hp1
NA19085.hp1
NA19091.hp1
NA19240.hp1
NA20300.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.646+25A>G
c.646+25A>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 6/8 chrX 1632812
chrX:1632824
A
A
 AG
AG
 1 a0001c0001t0002g0161
a0001c0001t0002g0161
 1 NA19057.hp2
NA19057.hp2
 intron_variant MODIFIER c.646+41dupG
c.646+41dupG
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 6/8 INFO_REALIGN_3_PRIME chrX 1632824
chrX:1632831
C
C
 T
T
 28 a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0043
others(25): Show 
a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0043
a0001c0001t0001g0046
a0001c0001t0001g0077
a0001c0001t0001g0079
a0001c0001t0001g0174
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0209
a0001c0001t0002g0145
a0001c0001t0002g0190
a0001c0001t0003g0090
a0001c0003t0001g0091
a0002c0002t0001g0018
a0002c0002t0001g0054
a0002c0002t0001g0088
a0002c0002t0001g0089
a0002c0002t0001g0119
a0002c0002t0001g0189
a0002c0002t0002g0154
a0002c0002t0002g0181
a0002c0002t0002g0188
a0002c0002t0002g0191
a0002c0002t0002g0199
a0002c0002t0002g0216
a0002c0006t0001g0104
a0002c0006t0001g0187
 29 HG00099.hp2
HG00544.hp2
HG00597.hp2
others(26): Show 
HG00099.hp2
HG00544.hp2
HG00597.hp2
HG00639.hp2
HG00733.hp1
HG01081.hp1
HG01168.hp2
HG01516.hp2
HG01517.hp2
HG02451.hp2
HG02559.hp1
HG02630.hp1
HG02630.hp2
HG02723.hp2
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02976.hp2
HG03669.hp1
HG03669.hp2
HG03834.hp1
HG06807.hp2
NA18955.hp1
NA18974.hp1
NA18998.hp2
NA19081.hp1
NA19240.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.646+44C>T
c.646+44C>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 6/8 chrX 1632831
chrX:1632858
T
T
 TG
TG
 1 a0001c0001t0002g0161
a0001c0001t0002g0161
 1 NA19057.hp2
NA19057.hp2
 intron_variant MODIFIER c.646+77dupG
c.646+77dupG
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 6/8 INFO_REALIGN_3_PRIME chrX 1632858
chrX:1632866
T
T
 TG
TG
 1 a0008c0013t0001g0101
a0008c0013t0001g0101
 1 NA18939.hp1
NA18939.hp1
 intron_variant MODIFIER c.646+82dupG
c.646+82dupG
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 6/8 INFO_REALIGN_3_PRIME chrX 1632866
chrX:1633016
GA
GA
 G
G
 154 a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
others(151): Show 
a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0014
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0019
a0001c0001t0001g0021
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0035
a0001c0001t0001g0037
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0046
a0001c0001t0001g0049
a0001c0001t0001g0053
a0001c0001t0001g0056
a0001c0001t0001g0063
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0079
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0086
a0001c0001t0001g0100
a0001c0001t0001g0102
a0001c0001t0001g0103
a0001c0001t0001g0105
a0001c0001t0001g0106
a0001c0001t0001g0110
a0001c0001t0001g0114
a0001c0001t0001g0121
a0001c0001t0001g0123
a0001c0001t0001g0128
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0158
a0001c0001t0001g0174
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0209
a0001c0001t0001g0211
a0001c0001t0001g0212
a0001c0001t0001g0214
a0001c0001t0001g0215
a0001c0001t0002g0120
a0001c0001t0002g0132
a0001c0001t0002g0140
a0001c0001t0002g0141
a0001c0001t0002g0144
a0001c0001t0002g0145
a0001c0001t0002g0152
a0001c0001t0002g0153
a0001c0001t0002g0157
a0001c0001t0002g0164
a0001c0001t0002g0176
a0001c0001t0002g0180
a0001c0001t0002g0184
a0001c0001t0002g0190
a0001c0001t0002g0195
a0001c0001t0002g0196
a0001c0001t0002g0200
a0001c0001t0002g0218
a0001c0001t0003g0090
a0001c0001t0005g0165
a0001c0003t0001g0013
a0001c0003t0001g0022
a0001c0003t0001g0091
a0001c0003t0001g0171
a0002c0002t0001g0003
a0002c0002t0001g0009
a0002c0002t0001g0018
a0002c0002t0001g0020
a0002c0002t0001g0026
a0002c0002t0001g0031
a0002c0002t0001g0042
a0002c0002t0001g0044
a0002c0002t0001g0052
a0002c0002t0001g0054
a0002c0002t0001g0055
a0002c0002t0001g0057
a0002c0002t0001g0066
a0002c0002t0001g0069
a0002c0002t0001g0073
a0002c0002t0001g0078
a0002c0002t0001g0085
a0002c0002t0001g0087
a0002c0002t0001g0088
a0002c0002t0001g0089
a0002c0002t0001g0095
a0002c0002t0001g0098
a0002c0002t0001g0099
a0002c0002t0001g0108
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0119
a0002c0002t0001g0124
a0002c0002t0001g0125
a0002c0002t0001g0127
a0002c0002t0001g0129
a0002c0002t0001g0130
a0002c0002t0001g0151
a0002c0002t0001g0185
a0002c0002t0001g0189
a0002c0002t0001g0208
a0002c0002t0001g0210
a0002c0002t0001g0220
a0002c0002t0001g0222
a0002c0002t0002g0096
a0002c0002t0002g0112
a0002c0002t0002g0131
a0002c0002t0002g0146
a0002c0002t0002g0154
a0002c0002t0002g0156
a0002c0002t0002g0162
a0002c0002t0002g0163
a0002c0002t0002g0166
a0002c0002t0002g0178
a0002c0002t0002g0181
a0002c0002t0002g0183
a0002c0002t0002g0186
a0002c0002t0002g0188
a0002c0002t0002g0191
a0002c0002t0002g0198
a0002c0002t0002g0199
a0002c0002t0002g0207
a0002c0002t0002g0213
a0002c0002t0002g0216
a0002c0002t0002g0217
a0002c0006t0001g0104
a0002c0006t0001g0187
a0003c0005t0001g0004
a0003c0005t0001g0202
a0003c0009t0001g0011
a0004c0004t0001g0169
a0004c0004t0004g0148
a0005c0016t0001g0045
a0006c0011t0001g0139
a0007c0012t0001g0109
a0008c0013t0001g0101
a0009c0014t0002g0075
a0011c0008t0001g0034
a0012c0007t0001g0036
 155 HG00099.hp1
HG00099.hp2
HG00323.hp1
others(152): Show 
HG00099.hp1
HG00099.hp2
HG00323.hp1
HG00423.hp1
HG00438.hp1
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00597.hp2
HG00639.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00741.hp1
HG00741.hp2
HG01081.hp1
HG01081.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp2
HG01256.hp1
HG01257.hp1
HG01257.hp2
HG01346.hp1
HG01361.hp1
HG01361.hp2
HG01496.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01891.hp1
HG01891.hp2
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02148.hp1
HG02155.hp2
HG02165.hp2
HG02257.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02683.hp1
HG02683.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02922.hp1
HG02922.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03195.hp1
HG03195.hp2
HG03239.hp1
HG03453.hp2
HG03491.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG04204.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp1
NA18942.hp1
NA18942.hp2
NA18947.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18951.hp1
NA18951.hp2
NA18954.hp2
NA18955.hp1
NA18956.hp2
NA18963.hp1
NA18968.hp1
NA18969.hp2
NA18973.hp2
NA18974.hp1
NA18975.hp1
NA18981.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19010.hp1
NA19030.hp1
NA19030.hp2
NA19062.hp1
NA19064.hp1
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19082.hp1
NA19085.hp1
NA19091.hp1
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.647-126delA
c.647-126delA
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 6/8 INFO_REALIGN_3_PRIME chrX 1633016
chrX:1633086
T
T
 TG
TG
 1 a0008c0013t0001g0101
a0008c0013t0001g0101
 1 NA18939.hp1
NA18939.hp1
 intron_variant MODIFIER c.647-62dupG
c.647-62dupG
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 6/8 INFO_REALIGN_3_PRIME chrX 1633086
chrX:1633095
A
A
 G
G
 9 a0002c0002t0001g0002
a0002c0002t0001g0015
a0002c0002t0001g0122
others(6): Show 
a0002c0002t0001g0002
a0002c0002t0001g0015
a0002c0002t0001g0122
a0002c0002t0001g0175
a0002c0002t0001g0221
a0002c0002t0002g0136
a0002c0002t0002g0159
a0002c0002t0002g0160
a0002c0010t0001g0010
 9 HG01070.hp2
HG02622.hp2
HG02896.hp2
others(6): Show 
HG01070.hp2
HG02622.hp2
HG02896.hp2
HG03453.hp1
HG03486.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp2
NA19240.hp2
 intron_variant MODIFIER c.647-55A>G
c.647-55A>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 6/8 chrX 1633095
chrX:1633124
G
G
 T
T
 20 a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0043
others(17): Show 
a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0043
a0001c0001t0001g0046
a0001c0001t0001g0077
a0001c0001t0001g0079
a0001c0001t0001g0174
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0209
a0001c0001t0002g0145
a0001c0001t0003g0090
a0001c0003t0001g0091
a0002c0002t0001g0018
a0002c0002t0001g0119
a0002c0002t0001g0189
a0002c0002t0002g0154
a0002c0002t0002g0188
a0002c0006t0001g0104
a0002c0006t0001g0187
 21 HG00544.hp2
HG00597.hp2
HG00639.hp2
others(18): Show 
HG00544.hp2
HG00597.hp2
HG00639.hp2
HG01168.hp2
HG02451.hp2
HG02559.hp1
HG02630.hp1
HG02630.hp2
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02976.hp2
HG03669.hp1
HG03669.hp2
HG03834.hp1
HG06807.hp2
NA18955.hp1
NA18998.hp2
NA19081.hp1
NA19240.hp1
 intron_variant MODIFIER c.647-26G>T
c.647-26G>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 6/8 chrX 1633124
chrX:1633312
A
A
 T
T
 2 a0001c0001t0001g0058
a0001c0001t0002g0167
a0001c0001t0001g0058
a0001c0001t0002g0167
 2 NA18975.hp2
NA18981.hp2
NA18975.hp2
NA18981.hp2
 intron_variant MODIFIER c.787+22A>T
c.787+22A>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 7/8 chrX 1633312
chrX:1633368
G
G
 C
C
 2 a0001c0001t0001g0212
a0001c0001t0002g0184
a0001c0001t0001g0212
a0001c0001t0002g0184
 2 HG01891.hp2
HG02280.hp2
HG01891.hp2
HG02280.hp2
 intron_variant MODIFIER c.787+78G>C
c.787+78G>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 7/8 chrX 1633368
chrX:1633382
G
G
 GT
GT
 1 a0007c0012t0001g0109
a0007c0012t0001g0109
 1 NA18963.hp1
NA18963.hp1
 intron_variant MODIFIER c.787+96dupT
c.787+96dupT
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 7/8 INFO_REALIGN_3_PRIME chrX 1633382
chrX:1633400
G
G
 GA
GA
 1 a0007c0012t0001g0109
a0007c0012t0001g0109
 1 NA18963.hp1
NA18963.hp1
 intron_variant MODIFIER c.787+113dupA
c.787+113dupA
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 7/8 INFO_REALIGN_3_PRIME chrX 1633400
chrX:1633491
A
A
 T
T
 18 a0001c0001t0001g0014
a0001c0001t0001g0017
a0001c0001t0001g0019
others(15): Show 
a0001c0001t0001g0014
a0001c0001t0001g0017
a0001c0001t0001g0019
a0001c0001t0001g0021
a0001c0001t0001g0121
a0001c0001t0001g0212
a0001c0001t0002g0184
a0001c0001t0002g0190
a0001c0003t0001g0022
a0002c0002t0001g0002
a0002c0002t0001g0015
a0002c0002t0001g0122
a0002c0002t0001g0175
a0002c0002t0001g0221
a0002c0002t0002g0136
a0002c0002t0002g0159
a0002c0002t0002g0160
a0002c0010t0001g0010
 18 HG00741.hp2
HG01070.hp2
HG01891.hp2
others(15): Show 
HG00741.hp2
HG01070.hp2
HG01891.hp2
HG02280.hp2
HG02622.hp2
HG02723.hp2
HG02896.hp2
HG03041.hp2
HG03195.hp1
HG03453.hp1
HG03486.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG06807.hp1
NA18906.hp1
NA19240.hp2
NA20300.hp1
 intron_variant MODIFIER c.787+201A>T
c.787+201A>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 7/8 chrX 1633491
chrX:1633508
C
C
 T
T
 15 a0001c0001t0001g0006
a0001c0001t0001g0012
a0001c0001t0001g0047
others(12): Show 
a0001c0001t0001g0006
a0001c0001t0001g0012
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0065
a0001c0001t0001g0084
a0001c0001t0001g0086
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0002g0147
a0001c0001t0002g0168
a0001c0001t0002g0170
a0002c0002t0001g0074
a0002c0002t0001g0210
a0002c0002t0002g0172
 15 HG00639.hp1
HG01070.hp1
HG01071.hp1
others(12): Show 
HG00639.hp1
HG01070.hp1
HG01071.hp1
HG02257.hp1
HG02615.hp1
HG02615.hp2
HG02976.hp1
HG03540.hp1
NA18950.hp1
NA18954.hp1
NA18998.hp1
NA19011.hp1
NA19057.hp1
NA19081.hp2
NA21309.hp1
 intron_variant MODIFIER c.787+218C>T
c.787+218C>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 7/8 chrX 1633508
chrX:1633547
C
C
 T
T
 5 a0001c0001t0001g0014
a0001c0001t0001g0017
a0001c0001t0001g0019
others(2): Show 
a0001c0001t0001g0014
a0001c0001t0001g0017
a0001c0001t0001g0019
a0001c0001t0001g0021
a0001c0003t0001g0022
 5 HG00741.hp2
HG03195.hp1
HG06807.hp1
others(2): Show 
HG00741.hp2
HG03195.hp1
HG06807.hp1
NA18906.hp1
NA20300.hp1
 intron_variant MODIFIER c.787+257C>T
c.787+257C>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 7/8 chrX 1633547
chrX:1633571
GT
GT
 G
G
 1 a0008c0013t0001g0101
a0008c0013t0001g0101
 1 NA18939.hp1
NA18939.hp1
 intron_variant MODIFIER c.787+283delT
c.787+283delT
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 7/8 INFO_REALIGN_3_PRIME chrX 1633571
chrX:1633625
G
G
 GC
GC
 1 a0001c0001t0002g0161
a0001c0001t0002g0161
 1 NA19057.hp2
NA19057.hp2
 intron_variant MODIFIER c.787+337dupC
c.787+337dupC
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 7/8 INFO_REALIGN_3_PRIME chrX 1633625
chrX:1633642
A
A
 AT
AT
 25 a0001c0001t0001g0014
a0001c0001t0001g0019
a0001c0001t0001g0021
others(22): Show 
a0001c0001t0001g0014
a0001c0001t0001g0019
a0001c0001t0001g0021
a0001c0001t0001g0028
a0001c0001t0001g0105
a0001c0001t0001g0118
a0001c0001t0001g0121
a0001c0001t0001g0212
a0001c0001t0002g0144
a0001c0001t0002g0180
a0001c0001t0002g0184
a0001c0001t0002g0196
a0001c0003t0001g0022
a0002c0002t0001g0002
a0002c0002t0001g0015
a0002c0002t0001g0122
a0002c0002t0001g0175
a0002c0002t0001g0220
a0002c0002t0001g0221
a0002c0002t0002g0136
a0002c0002t0002g0159
a0002c0002t0002g0160
a0002c0010t0001g0010
a0006c0011t0001g0139
a0008c0013t0001g0101
 25 HG01070.hp2
HG01123.hp1
HG01891.hp2
others(22): Show 
HG01070.hp2
HG01123.hp1
HG01891.hp2
HG02109.hp2
HG02148.hp1
HG02280.hp2
HG02559.hp2
HG02622.hp2
HG02896.hp2
HG03041.hp2
HG03195.hp1
HG03453.hp1
HG03486.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG06807.hp1
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18973.hp2
NA18999.hp1
NA19077.hp1
NA19240.hp2
NA20300.hp1
 intron_variant MODIFIER c.787+367dupT
c.787+367dupT
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 7/8 INFO_REALIGN_3_PRIME chrX 1633642
chrX:1633642
A
A
 ATT
ATT
 2 a0001c0001t0001g0017
a0001c0001t0002g0190
a0001c0001t0001g0017
a0001c0001t0002g0190
 2 HG00741.hp2
HG02723.hp2
HG00741.hp2
HG02723.hp2
 intron_variant MODIFIER c.787+366_787+367dup
others(2): Show 
c.787+366_787+367dupTT
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 7/8 INFO_REALIGN_3_PRIME chrX 1633642
chrX:1633642
A
A
 ATTTT
ATTTT
 42 a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0024
others(39): Show 
a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0043
a0001c0001t0001g0077
a0001c0001t0001g0079
a0001c0001t0001g0174
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0209
a0001c0001t0001g0214
a0001c0001t0002g0145
a0001c0001t0003g0090
a0001c0003t0001g0091
a0002c0002t0001g0003
a0002c0002t0001g0009
a0002c0002t0001g0026
a0002c0002t0001g0031
a0002c0002t0001g0052
a0002c0002t0001g0054
a0002c0002t0001g0057
a0002c0002t0001g0069
a0002c0002t0001g0078
a0002c0002t0001g0089
a0002c0002t0001g0098
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0119
a0002c0002t0001g0124
a0002c0002t0001g0127
a0002c0002t0001g0130
a0002c0002t0001g0189
a0002c0002t0001g0208
a0002c0002t0001g0222
a0002c0002t0002g0154
a0002c0002t0002g0178
a0002c0002t0002g0191
a0002c0002t0002g0198
a0002c0002t0002g0199
a0002c0002t0002g0217
a0004c0004t0004g0148
 43 HG00597.hp2
HG00639.hp2
HG00733.hp1
others(40): Show 
HG00597.hp2
HG00639.hp2
HG00733.hp1
HG01123.hp2
HG01168.hp2
HG01175.hp2
HG01346.hp1
HG01361.hp1
HG01361.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01891.hp1
HG01978.hp2
HG02004.hp1
HG02109.hp1
HG02273.hp2
HG02293.hp2
HG02451.hp2
HG02559.hp1
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02809.hp2
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02976.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG06807.hp2
NA18939.hp2
NA18949.hp2
NA18955.hp1
NA18974.hp1
NA18998.hp2
NA19003.hp2
NA19062.hp1
NA19081.hp1
NA19240.hp1
 intron_variant MODIFIER c.787+364_787+367dup
others(4): Show 
c.787+364_787+367dupTTTT
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 7/8 INFO_REALIGN_3_PRIME chrX 1633642
chrX:1633642
A
A
 ATTTTT
ATTTTT
 5 a0001c0001t0001g0046
a0001c0001t0002g0152
a0002c0002t0002g0156
others(2): Show 
a0001c0001t0001g0046
a0001c0001t0002g0152
a0002c0002t0002g0156
a0002c0002t0002g0188
a0002c0006t0001g0104
 5 HG00423.hp1
HG02818.hp1
HG03669.hp1
others(2): Show 
HG00423.hp1
HG02818.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
 intron_variant MODIFIER c.787+363_787+367dup
others(5): Show 
c.787+363_787+367dupTTTTT
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 7/8 INFO_REALIGN_3_PRIME chrX 1633642
chrX:1633642
AT
AT
 A
A
 3 a0001c0001t0002g0161
a0002c0002t0002g0186
a0007c0012t0001g0109
a0001c0001t0002g0161
a0002c0002t0002g0186
a0007c0012t0001g0109
 3 NA18963.hp1
NA18968.hp1
NA19057.hp2
NA18963.hp1
NA18968.hp1
NA19057.hp2
 intron_variant MODIFIER c.787+367delT
c.787+367delT
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 7/8 INFO_REALIGN_3_PRIME chrX 1633642
chrX:1633683
G
G
 A
A
 66 a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0014
others(63): Show 
a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0014
a0001c0001t0001g0017
a0001c0001t0001g0019
a0001c0001t0001g0021
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0043
a0001c0001t0001g0046
a0001c0001t0001g0077
a0001c0001t0001g0079
a0001c0001t0001g0118
a0001c0001t0001g0121
a0001c0001t0001g0174
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0209
a0001c0001t0001g0212
a0001c0001t0001g0214
a0001c0001t0002g0145
a0001c0001t0002g0152
a0001c0001t0002g0184
a0001c0001t0002g0190
a0001c0001t0003g0090
a0001c0003t0001g0022
a0001c0003t0001g0091
a0002c0002t0001g0002
a0002c0002t0001g0003
a0002c0002t0001g0009
a0002c0002t0001g0015
a0002c0002t0001g0026
a0002c0002t0001g0031
a0002c0002t0001g0052
a0002c0002t0001g0054
a0002c0002t0001g0057
a0002c0002t0001g0069
a0002c0002t0001g0078
a0002c0002t0001g0089
a0002c0002t0001g0098
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0119
a0002c0002t0001g0122
a0002c0002t0001g0124
a0002c0002t0001g0127
a0002c0002t0001g0130
a0002c0002t0001g0175
a0002c0002t0001g0189
a0002c0002t0001g0208
a0002c0002t0001g0221
a0002c0002t0001g0222
a0002c0002t0002g0136
a0002c0002t0002g0154
a0002c0002t0002g0156
a0002c0002t0002g0159
a0002c0002t0002g0160
a0002c0002t0002g0178
a0002c0002t0002g0188
a0002c0002t0002g0191
a0002c0002t0002g0198
a0002c0002t0002g0199
a0002c0002t0002g0217
a0002c0006t0001g0104
a0002c0010t0001g0010
a0004c0004t0004g0148
 67 HG00423.hp1
HG00597.hp2
HG00639.hp2
others(64): Show 
HG00423.hp1
HG00597.hp2
HG00639.hp2
HG00733.hp1
HG00741.hp2
HG01070.hp2
HG01123.hp2
HG01168.hp2
HG01175.hp2
HG01346.hp1
HG01361.hp1
HG01361.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01891.hp1
HG01891.hp2
HG01978.hp2
HG02004.hp1
HG02109.hp1
HG02109.hp2
HG02273.hp2
HG02280.hp2
HG02293.hp2
HG02451.hp2
HG02559.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02723.hp2
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp2
HG02976.hp2
HG03041.hp2
HG03195.hp1
HG03453.hp1
HG03486.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03831.hp1
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18939.hp2
NA18949.hp2
NA18955.hp1
NA18974.hp1
NA18998.hp2
NA19003.hp2
NA19062.hp1
NA19081.hp1
NA19240.hp1
NA19240.hp2
NA20300.hp1
 intron_variant MODIFIER c.787+393G>A
c.787+393G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 7/8 chrX 1633683
chrX:1633709
G
G
 A
A
 8 a0001c0001t0001g0014
a0001c0001t0001g0017
a0001c0001t0001g0019
others(5): Show 
a0001c0001t0001g0014
a0001c0001t0001g0017
a0001c0001t0001g0019
a0001c0001t0001g0021
a0001c0001t0001g0121
a0001c0001t0001g0212
a0001c0001t0002g0184
a0001c0003t0001g0022
 8 HG00741.hp2
HG01891.hp2
HG02280.hp2
others(5): Show 
HG00741.hp2
HG01891.hp2
HG02280.hp2
HG03041.hp2
HG03195.hp1
HG06807.hp1
NA18906.hp1
NA20300.hp1
 intron_variant MODIFIER c.787+419G>A
c.787+419G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 7/8 chrX 1633709
chrX:1633720
G
G
 GC
GC
 1 a0008c0013t0001g0101
a0008c0013t0001g0101
 1 NA18939.hp1
NA18939.hp1
 intron_variant MODIFIER c.787+431dupC
c.787+431dupC
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 7/8 INFO_REALIGN_3_PRIME chrX 1633720
chrX:1633725
G
G
 A
A
 1 a0001c0001t0002g0190
a0001c0001t0002g0190
 1 HG02723.hp2
HG02723.hp2
 intron_variant MODIFIER c.787+435G>A
c.787+435G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 7/8 chrX 1633725
chrX:1633731
C
C
 T
T
 15 a0001c0001t0001g0006
a0001c0001t0001g0012
a0001c0001t0001g0047
others(12): Show 
a0001c0001t0001g0006
a0001c0001t0001g0012
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0065
a0001c0001t0001g0084
a0001c0001t0001g0086
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0002g0147
a0001c0001t0002g0168
a0001c0001t0002g0170
a0002c0002t0001g0074
a0002c0002t0001g0210
a0002c0002t0002g0172
 15 HG00639.hp1
HG01070.hp1
HG01071.hp1
others(12): Show 
HG00639.hp1
HG01070.hp1
HG01071.hp1
HG02257.hp1
HG02615.hp1
HG02615.hp2
HG02976.hp1
HG03540.hp1
NA18950.hp1
NA18954.hp1
NA18998.hp1
NA19011.hp1
NA19057.hp1
NA19081.hp2
NA21309.hp1
 intron_variant MODIFIER c.787+441C>T
c.787+441C>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 7/8 chrX 1633731
chrX:1633756
A
A
 G
G
 67 a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0014
others(64): Show 
a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0014
a0001c0001t0001g0017
a0001c0001t0001g0019
a0001c0001t0001g0021
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0043
a0001c0001t0001g0046
a0001c0001t0001g0077
a0001c0001t0001g0079
a0001c0001t0001g0118
a0001c0001t0001g0121
a0001c0001t0001g0174
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0209
a0001c0001t0001g0212
a0001c0001t0001g0214
a0001c0001t0002g0145
a0001c0001t0002g0152
a0001c0001t0002g0184
a0001c0001t0002g0190
a0001c0001t0003g0090
a0001c0003t0001g0022
a0001c0003t0001g0091
a0002c0002t0001g0002
a0002c0002t0001g0003
a0002c0002t0001g0009
a0002c0002t0001g0015
a0002c0002t0001g0026
a0002c0002t0001g0031
a0002c0002t0001g0052
a0002c0002t0001g0054
a0002c0002t0001g0057
a0002c0002t0001g0069
a0002c0002t0001g0078
a0002c0002t0001g0089
a0002c0002t0001g0098
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0119
a0002c0002t0001g0122
a0002c0002t0001g0124
a0002c0002t0001g0127
a0002c0002t0001g0130
a0002c0002t0001g0175
a0002c0002t0001g0189
a0002c0002t0001g0208
a0002c0002t0001g0221
a0002c0002t0001g0222
a0002c0002t0002g0136
a0002c0002t0002g0154
a0002c0002t0002g0156
a0002c0002t0002g0159
a0002c0002t0002g0160
a0002c0002t0002g0178
a0002c0002t0002g0183
a0002c0002t0002g0188
a0002c0002t0002g0191
a0002c0002t0002g0198
a0002c0002t0002g0199
a0002c0002t0002g0217
a0002c0006t0001g0104
a0002c0010t0001g0010
a0004c0004t0004g0148
 68 HG00423.hp1
HG00597.hp2
HG00639.hp2
others(65): Show 
HG00423.hp1
HG00597.hp2
HG00639.hp2
HG00733.hp1
HG00741.hp2
HG01070.hp2
HG01123.hp2
HG01168.hp2
HG01175.hp2
HG01346.hp1
HG01361.hp1
HG01361.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01891.hp1
HG01891.hp2
HG01978.hp2
HG02004.hp1
HG02109.hp1
HG02109.hp2
HG02273.hp2
HG02280.hp2
HG02293.hp2
HG02451.hp2
HG02559.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02723.hp2
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp2
HG02976.hp2
HG03041.hp2
HG03195.hp1
HG03453.hp1
HG03486.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03831.hp1
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18939.hp2
NA18949.hp2
NA18955.hp1
NA18974.hp1
NA18998.hp2
NA19003.hp2
NA19062.hp1
NA19081.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
 intron_variant MODIFIER c.787+466A>G
c.787+466A>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 7/8 chrX 1633756
chrX:1633771
TG
TG
 T
T
 1 a0007c0012t0001g0109
a0007c0012t0001g0109
 1 NA18963.hp1
NA18963.hp1
 intron_variant MODIFIER c.787+484delG
c.787+484delG
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 7/8 INFO_REALIGN_3_PRIME chrX 1633771
chrX:1633784
A
A
 G
G
 2 a0002c0002t0001g0108
a0002c0002t0002g0112
a0002c0002t0001g0108
a0002c0002t0002g0112
 2 NA18941.hp1
NA19080.hp2
NA18941.hp1
NA19080.hp2
 intron_variant MODIFIER c.787+494A>G
c.787+494A>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 7/8 chrX 1633784
chrX:1633790
C
C
 G
G
 1 a0001c0001t0002g0144
a0001c0001t0002g0144
 1 NA18906.hp2
NA18906.hp2
 intron_variant MODIFIER c.787+500C>G
c.787+500C>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 7/8 chrX 1633790
chrX:1633814
AT
AT
 A
A
 1 a0007c0012t0001g0109
a0007c0012t0001g0109
 1 NA18963.hp1
NA18963.hp1
 intron_variant MODIFIER c.787+529delT
c.787+529delT
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 7/8 INFO_REALIGN_3_PRIME chrX 1633814
chrX:1633869
A
A
 AC
AC
 1 a0007c0012t0001g0109
a0007c0012t0001g0109
 1 NA18963.hp1
NA18963.hp1
 intron_variant MODIFIER c.787+581dupC
c.787+581dupC
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 7/8 INFO_REALIGN_3_PRIME chrX 1633869
chrX:1633872
G
G
 A
A
 2 a0001c0001t0001g0084
a0001c0001t0001g0086
a0001c0001t0001g0084
a0001c0001t0001g0086
 2 NA18950.hp1
NA19081.hp2
NA18950.hp1
NA19081.hp2
 intron_variant MODIFIER c.787+582G>A
c.787+582G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 7/8 chrX 1633872
chrX:1633905
TG
TG
 T
T
 1 a0001c0001t0002g0161
a0001c0001t0002g0161
 1 NA19057.hp2
NA19057.hp2
 intron_variant MODIFIER c.787+618delG
c.787+618delG
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 7/8 INFO_REALIGN_3_PRIME chrX 1633905
chrX:1633930
A
A
 G
G
 65 a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0014
others(62): Show 
a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0014
a0001c0001t0001g0017
a0001c0001t0001g0019
a0001c0001t0001g0021
a0001c0001t0001g0043
a0001c0001t0001g0046
a0001c0001t0001g0077
a0001c0001t0001g0079
a0001c0001t0001g0118
a0001c0001t0001g0121
a0001c0001t0001g0174
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0209
a0001c0001t0001g0212
a0001c0001t0001g0214
a0001c0001t0002g0145
a0001c0001t0002g0152
a0001c0001t0002g0184
a0001c0001t0003g0090
a0001c0003t0001g0022
a0001c0003t0001g0091
a0002c0002t0001g0002
a0002c0002t0001g0003
a0002c0002t0001g0009
a0002c0002t0001g0015
a0002c0002t0001g0026
a0002c0002t0001g0031
a0002c0002t0001g0052
a0002c0002t0001g0054
a0002c0002t0001g0057
a0002c0002t0001g0069
a0002c0002t0001g0078
a0002c0002t0001g0089
a0002c0002t0001g0098
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0119
a0002c0002t0001g0122
a0002c0002t0001g0124
a0002c0002t0001g0127
a0002c0002t0001g0130
a0002c0002t0001g0175
a0002c0002t0001g0189
a0002c0002t0001g0208
a0002c0002t0001g0221
a0002c0002t0001g0222
a0002c0002t0002g0136
a0002c0002t0002g0154
a0002c0002t0002g0156
a0002c0002t0002g0159
a0002c0002t0002g0160
a0002c0002t0002g0178
a0002c0002t0002g0183
a0002c0002t0002g0188
a0002c0002t0002g0191
a0002c0002t0002g0198
a0002c0002t0002g0199
a0002c0002t0002g0217
a0002c0006t0001g0104
a0002c0010t0001g0010
a0004c0004t0004g0148
a0009c0014t0002g0075
 66 HG00423.hp1
HG00597.hp2
HG00639.hp2
others(63): Show 
HG00423.hp1
HG00597.hp2
HG00639.hp2
HG00733.hp1
HG00741.hp2
HG01070.hp2
HG01123.hp2
HG01168.hp2
HG01175.hp2
HG01346.hp1
HG01361.hp1
HG01361.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01891.hp1
HG01891.hp2
HG01978.hp2
HG02004.hp1
HG02109.hp1
HG02109.hp2
HG02273.hp2
HG02280.hp2
HG02293.hp2
HG02451.hp2
HG02559.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02683.hp2
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp2
HG02976.hp2
HG03041.hp2
HG03195.hp1
HG03453.hp1
HG03486.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03831.hp2
HG03927.hp1
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18939.hp2
NA18949.hp2
NA18955.hp1
NA18974.hp1
NA18998.hp2
NA19003.hp2
NA19062.hp1
NA19081.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
 intron_variant MODIFIER c.787+640A>G
c.787+640A>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 7/8 chrX 1633930
chrX:1633939
C
C
 T
T
 8 a0001c0001t0001g0014
a0001c0001t0001g0017
a0001c0001t0001g0019
others(5): Show 
a0001c0001t0001g0014
a0001c0001t0001g0017
a0001c0001t0001g0019
a0001c0001t0001g0021
a0001c0001t0001g0121
a0001c0001t0001g0212
a0001c0001t0002g0184
a0001c0003t0001g0022
 8 HG00741.hp2
HG01891.hp2
HG02280.hp2
others(5): Show 
HG00741.hp2
HG01891.hp2
HG02280.hp2
HG03041.hp2
HG03195.hp1
HG06807.hp1
NA18906.hp1
NA20300.hp1
 intron_variant MODIFIER c.787+649C>T
c.787+649C>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 7/8 chrX 1633939
chrX:1633953
A
A
 AGTAGAGA
others(1012): Show 
AGTAGAGATGGGGTTTCACCATGTTGACCAGGCTGGTCTCGAACTCCTGA
CCTCAGGAGATCCGCCCGCCTCGGCCTCCCAAAGTGCCGGGATTACAGGC
ATGAGCCACTGCACCTGGCCTTTTTTTGTATTTTTAGTAGAGATGGGGTT
TCACCATGTTGGCCAGGCTGGTCTTGAACTCTTGACCTCAGGAGATCCAC
CCGCCTTGGCCACCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACC
CAGCCTTTTTGTATTTTTAGTAGAGATGGGATTTCAGCATGTTGGCCAGG
CTGGTCTTGAACTCTTGACCTCAGGTGATCCGCCTGCCTCAGCCTCCCAA
AGTGCTGGGATTACAGGCATGAGCCACCACGCCTGGACTTTTTTTGTATT
TTTAGTAGAGATGGGGTTTCACCGTGTTGACCAGGCTGGTCTCAAACTCC
TGACCTCAGGAGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACA
GGTGTGAGCCACTGAGCCCAGCCTTTTTTTTTTTTTGAGATAGAGTCTCG
CTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAAC
CTCTGCCTCCTGGGTTTAAGCAATTCTCTGCCTCATCCTCCCGAGTAGCT
GAGATTACAGGCGCCCACCACCATGCCCAGCCAATTTTTGTATTTTTAGT
AGGGATGGGGTTTCACCATCTTGGCCAGGCTGGTCTCGAACTCCCGACTT
TGTGATCCACCTGTCTCGGCCTCCCAAAGTGCCGGGGATTACAGGAGTGA
GCCACTGCGCCTGGCCTGAGTTAACTCTTTTTTTTTTTTTTTTGAGACGG
AGTCTCGCTCTGTTGCCAAGGCTGGAGTGCAGTGGTCCGATCTCAGCTCA
CTGCAAGCTCCACCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCC
TAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCAGCTAATTTTTTTT
TTTTTTTTTTTGTATTTTTG
 1 a0001c0001t0002g0184
a0001c0001t0002g0184
 1 HG02280.hp2
HG02280.hp2
 intron_variant MODIFIER c.787+682_787+683ins
others(1019): Show 
c.787+682_787+683insATGTTGACCAGGCTGGTCTCGAACTCCTGA
CCTCAGGAGATCCGCCCGCCTCGGCCTCCCAAAGTGCCGGGATTACAGGC
ATGAGCCACTGCACCTGGCCTTTTTTTGTATTTTTAGTAGAGATGGGGTT
TCACCATGTTGGCCAGGCTGGTCTTGAACTCTTGACCTCAGGAGATCCAC
CCGCCTTGGCCACCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACC
CAGCCTTTTTGTATTTTTAGTAGAGATGGGATTTCAGCATGTTGGCCAGG
CTGGTCTTGAACTCTTGACCTCAGGTGATCCGCCTGCCTCAGCCTCCCAA
AGTGCTGGGATTACAGGCATGAGCCACCACGCCTGGACTTTTTTTGTATT
TTTAGTAGAGATGGGGTTTCACCGTGTTGACCAGGCTGGTCTCAAACTCC
TGACCTCAGGAGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACA
GGTGTGAGCCACTGAGCCCAGCCTTTTTTTTTTTTTGAGATAGAGTCTCG
CTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAAC
CTCTGCCTCCTGGGTTTAAGCAATTCTCTGCCTCATCCTCCCGAGTAGCT
GAGATTACAGGCGCCCACCACCATGCCCAGCCAATTTTTGTATTTTTAGT
AGGGATGGGGTTTCACCATCTTGGCCAGGCTGGTCTCGAACTCCCGACTT
TGTGATCCACCTGTCTCGGCCTCCCAAAGTGCCGGGGATTACAGGAGTGA
GCCACTGCGCCTGGCCTGAGTTAACTCTTTTTTTTTTTTTTTTGAGACGG
AGTCTCGCTCTGTTGCCAAGGCTGGAGTGCAGTGGTCCGATCTCAGCTCA
CTGCAAGCTCCACCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCC
TAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCAGCTAATTTTTTTT
TTTTTTTTTTTGTATTTTTGGTAGAGATGGGGTTTCACC
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 7/8 INFO_REALIGN_3_PRIME chrX 1633953
chrX:1633953
A
A
 AGTAGAGA
others(1013): Show 
AGTAGAGATGGGGTTTCACCATGTTGACCAGGCTGGTCTCGAACTCCTGA
CCTCAGGAGATCCGCCCGCCTCGGCCTCCCAAAGTGCCGGGATTACAGGC
ATGAGCCACTGCACCTGGCCTTTTTTTGTATTTTTAGTAGAGATGGGGTT
TCACCATGTTGGCCAGGCTGGTCTTGAACTCTTGACCTCAGGAGATCCAC
CCGCCTTGGCCACCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACC
CAGCCTTTTTGTATTTTTAGTAGAGATGGGATTTCAGCATGTTGGCCAGG
CTGGTCTTGAACTCTTGACCTCAGGTGATCCGCCTGCCTCAGCCTCCCAA
AGTGCTGGGATTACAGGCATGAGCCACCACGCCTGGACTTTTTTTGTATT
TTTAGTAGAGATGGGGTTTCACCGTGTTGACCAGGCTGGTCTCAAACTCC
TGACCTCAGGAGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACA
GGTGTGAGCCACTGAGCCCAGCCTTTTTTTTTTTTTGAGATAGAGTCTCG
CTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAAC
CTCTGCCTCCTGGGTTTAAGCAATTCTCTGCCTCATCCTCCCGAGTAGCT
GAGATTACAGGCGCCCACCACCATGCCCAGCCAATTTTTGTATTTTTAGT
AGGGATGGGGTTTCACCATCTTGGCCAGGCTGGTCTCGAACTCCCGACTT
TGTGATCCACCTGTCTCGGCCTCCCAAAGTGCCGGGGATTACAGGAGTGA
GCCACTGCGCCTGGCCTGAGTTAACTCTTTTTTTTTTTTTTTTGAGACGG
AGTCTCGCTCTGTTGCCAAGGCTGGAGTGCAGTGGTCCGATCTCAGCTCA
CTGCAAGCTCCACCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCC
TAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCAGCTAATTTTTTTT
TTTTTTTTTTTTGTATTTTTG
 1 a0001c0001t0001g0212
a0001c0001t0001g0212
 1 HG01891.hp2
HG01891.hp2
 intron_variant MODIFIER c.787+682_787+683ins
others(1020): Show 
c.787+682_787+683insATGTTGACCAGGCTGGTCTCGAACTCCTGA
CCTCAGGAGATCCGCCCGCCTCGGCCTCCCAAAGTGCCGGGATTACAGGC
ATGAGCCACTGCACCTGGCCTTTTTTTGTATTTTTAGTAGAGATGGGGTT
TCACCATGTTGGCCAGGCTGGTCTTGAACTCTTGACCTCAGGAGATCCAC
CCGCCTTGGCCACCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACC
CAGCCTTTTTGTATTTTTAGTAGAGATGGGATTTCAGCATGTTGGCCAGG
CTGGTCTTGAACTCTTGACCTCAGGTGATCCGCCTGCCTCAGCCTCCCAA
AGTGCTGGGATTACAGGCATGAGCCACCACGCCTGGACTTTTTTTGTATT
TTTAGTAGAGATGGGGTTTCACCGTGTTGACCAGGCTGGTCTCAAACTCC
TGACCTCAGGAGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACA
GGTGTGAGCCACTGAGCCCAGCCTTTTTTTTTTTTTGAGATAGAGTCTCG
CTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAAC
CTCTGCCTCCTGGGTTTAAGCAATTCTCTGCCTCATCCTCCCGAGTAGCT
GAGATTACAGGCGCCCACCACCATGCCCAGCCAATTTTTGTATTTTTAGT
AGGGATGGGGTTTCACCATCTTGGCCAGGCTGGTCTCGAACTCCCGACTT
TGTGATCCACCTGTCTCGGCCTCCCAAAGTGCCGGGGATTACAGGAGTGA
GCCACTGCGCCTGGCCTGAGTTAACTCTTTTTTTTTTTTTTTTGAGACGG
AGTCTCGCTCTGTTGCCAAGGCTGGAGTGCAGTGGTCCGATCTCAGCTCA
CTGCAAGCTCCACCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCC
TAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCAGCTAATTTTTTTT
TTTTTTTTTTTTGTATTTTTGGTAGAGATGGGGTTTCACC
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 7/8 INFO_REALIGN_3_PRIME chrX 1633953
chrX:1633953
A
A
 AGTAGAGA
others(1012): Show 
AGTAGAGATGGGGTTTCACCATGTTGACCAGGCTGGTCTCGAACTCCTGA
CCTCAGGAGATCCGCCCGCCTCGGCCTCCCAAAGTGCCGGGATTACAGGC
ATGAGCCACTGCACCTGGCCTTTTTTTGTATTTTTAGTAGAGATGGGGTT
TCACCATGTTGGCCAGGCTGGTCTTGAACTCTTGACCTCAGGAGATCCAC
CCGCCTTGGCCACCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACC
CAGCCTTTTTGTATTTTTAGTAGAGATGGGATTTCAGCATGTTGGCCAGG
CTGGTCTTGAACTCTTGACCTCAGGTGATCCGCCTGCCTCAGCCTCCCAA
AGTGCTGGGATTACAGGCATGAGCCACCACGCCTGGACTTTTTTTGTATT
TTTAGTAGAGATGGGGTTTCACCGTGTTGACCAGGCTGGTCTCAAACTCC
TGACCTCAGGAGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACA
GGTGTGAGCCACTGAGCCCAGCCTTTTTTTTTTTTTGAGATAGAGTCTTG
CTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAAC
CTCTGCCTCCTGGGTTTAAGCAATTCTCTGCCTCATCCTCCCGAGTAGCT
GAGATTACAGGCGCCCACCACCATGCCCAGCCAATTTTTGTATTTTTAGT
AGGGATGGGGTTTCACCATCTTGGCCAGGCTGGTCTCGAACTCCCGACTT
TGTGATCCACCTGTCTCGGCCTCCCAAAGTGCCGGGGATTACAGGAGTGA
GCCACTGCGCCTGGCCTGAGTTAACTCTTTTTTTTTTTTTTTTGAGACGG
AGTCTCGCTCTGTTGCCAAGGCTGGAGTGCAGTGGTCCGATCTCAGCTCA
CTGCAAGCTCCACCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCC
TAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCAGCTAATTTTTTTT
TTTTTTTTTTTGTATTTTTG
 5 a0001c0001t0001g0014
a0001c0001t0001g0019
a0001c0001t0001g0021
others(2): Show 
a0001c0001t0001g0014
a0001c0001t0001g0019
a0001c0001t0001g0021
a0001c0001t0001g0121
a0001c0003t0001g0022
 5 HG03041.hp2
HG03195.hp1
HG06807.hp1
others(2): Show 
HG03041.hp2
HG03195.hp1
HG06807.hp1
NA18906.hp1
NA20300.hp1
 intron_variant MODIFIER c.787+682_787+683ins
others(1019): Show 
c.787+682_787+683insATGTTGACCAGGCTGGTCTCGAACTCCTGA
CCTCAGGAGATCCGCCCGCCTCGGCCTCCCAAAGTGCCGGGATTACAGGC
ATGAGCCACTGCACCTGGCCTTTTTTTGTATTTTTAGTAGAGATGGGGTT
TCACCATGTTGGCCAGGCTGGTCTTGAACTCTTGACCTCAGGAGATCCAC
CCGCCTTGGCCACCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACC
CAGCCTTTTTGTATTTTTAGTAGAGATGGGATTTCAGCATGTTGGCCAGG
CTGGTCTTGAACTCTTGACCTCAGGTGATCCGCCTGCCTCAGCCTCCCAA
AGTGCTGGGATTACAGGCATGAGCCACCACGCCTGGACTTTTTTTGTATT
TTTAGTAGAGATGGGGTTTCACCGTGTTGACCAGGCTGGTCTCAAACTCC
TGACCTCAGGAGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACA
GGTGTGAGCCACTGAGCCCAGCCTTTTTTTTTTTTTGAGATAGAGTCTTG
CTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAAC
CTCTGCCTCCTGGGTTTAAGCAATTCTCTGCCTCATCCTCCCGAGTAGCT
GAGATTACAGGCGCCCACCACCATGCCCAGCCAATTTTTGTATTTTTAGT
AGGGATGGGGTTTCACCATCTTGGCCAGGCTGGTCTCGAACTCCCGACTT
TGTGATCCACCTGTCTCGGCCTCCCAAAGTGCCGGGGATTACAGGAGTGA
GCCACTGCGCCTGGCCTGAGTTAACTCTTTTTTTTTTTTTTTTGAGACGG
AGTCTCGCTCTGTTGCCAAGGCTGGAGTGCAGTGGTCCGATCTCAGCTCA
CTGCAAGCTCCACCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCC
TAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCAGCTAATTTTTTTT
TTTTTTTTTTTGTATTTTTGGTAGAGATGGGGTTTCACC
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 7/8 INFO_REALIGN_3_PRIME chrX 1633953
chrX:1633953
A
A
 AGTAGAGA
others(1013): Show 
AGTAGAGATGGGGTTTCACCATGTTGACCAGGCTGGTCTCGAACTCCTGA
CCTCAGGAGATCCGCCCGCCTCGGCCTCCCAAAGTGCCGGGATTACAGGC
ATGAGCCACTGCACCTGGCCTTTTTTTGTATTTTTAGTAGAGATGGGGTT
TCACCATGTTGGCCAGGCTGGTCTTGAACTCTTGACCTCAGGAGATCCAC
CCGCCTTGGCCACCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACC
CAGCCTTTTTGTATTTTTAGTAGAGATGGGATTTCAGCATGTTGGCCAGG
CTGGTCTTGAACTCTTGACCTCAGGTGATCCGCCTGCCTCAGCCTCCCAA
AGTGCTGGGATTACAGGCATGAGCCACCACGCCTGGACTTTTTTTGTATT
TTTAGTAGAGATGGGGTTTCACCGTGTTGACCAGGCTGGTCTCAAACTCC
TGACCTCAGGAGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACA
GGTGTGAGCCACTGAGCCCAGCCTTTTTTTTTTTTTGAGATAGAGTCTTG
CTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAAC
CTCTGCCTCCTGGGTTTAAGCAATTCTCTGCCTCATCCTCCCGAGTAGCT
GAGATTACAGGCGCCCACCACCATGCCCAGCCAATTTTTGTATTTTTAGT
AGGGATGGGGTTTCACCATCTTGGCCAGGCTGGTCTCGAACTCCCGACTT
TGTGATCCACCTGTCTCGGCCTCCCAAAGTGCCGGGGATTACAGGAGTGA
GCCACTGCGCCTGGCCTGAGTTAACTCTTTTTTTTTTTTTTTTTGAGACG
GAGTCTCGCTCTGTTGCCAAGGCTGGAGTGCAGTGGTCCGATCTCAGCTC
ACTGCAAGCTCCACCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCC
CTAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCAGCTAATTTTTTT
TTTTTTTTTTTTGTATTTTTG
 1 a0001c0001t0001g0017
a0001c0001t0001g0017
 1 HG00741.hp2
HG00741.hp2
 intron_variant MODIFIER c.787+682_787+683ins
others(1020): Show 
c.787+682_787+683insATGTTGACCAGGCTGGTCTCGAACTCCTGA
CCTCAGGAGATCCGCCCGCCTCGGCCTCCCAAAGTGCCGGGATTACAGGC
ATGAGCCACTGCACCTGGCCTTTTTTTGTATTTTTAGTAGAGATGGGGTT
TCACCATGTTGGCCAGGCTGGTCTTGAACTCTTGACCTCAGGAGATCCAC
CCGCCTTGGCCACCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACC
CAGCCTTTTTGTATTTTTAGTAGAGATGGGATTTCAGCATGTTGGCCAGG
CTGGTCTTGAACTCTTGACCTCAGGTGATCCGCCTGCCTCAGCCTCCCAA
AGTGCTGGGATTACAGGCATGAGCCACCACGCCTGGACTTTTTTTGTATT
TTTAGTAGAGATGGGGTTTCACCGTGTTGACCAGGCTGGTCTCAAACTCC
TGACCTCAGGAGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACA
GGTGTGAGCCACTGAGCCCAGCCTTTTTTTTTTTTTGAGATAGAGTCTTG
CTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAAC
CTCTGCCTCCTGGGTTTAAGCAATTCTCTGCCTCATCCTCCCGAGTAGCT
GAGATTACAGGCGCCCACCACCATGCCCAGCCAATTTTTGTATTTTTAGT
AGGGATGGGGTTTCACCATCTTGGCCAGGCTGGTCTCGAACTCCCGACTT
TGTGATCCACCTGTCTCGGCCTCCCAAAGTGCCGGGGATTACAGGAGTGA
GCCACTGCGCCTGGCCTGAGTTAACTCTTTTTTTTTTTTTTTTTGAGACG
GAGTCTCGCTCTGTTGCCAAGGCTGGAGTGCAGTGGTCCGATCTCAGCTC
ACTGCAAGCTCCACCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCC
CTAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCAGCTAATTTTTTT
TTTTTTTTTTTTGTATTTTTGGTAGAGATGGGGTTTCACC
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 7/8 INFO_REALIGN_3_PRIME chrX 1633953
chrX:1633965
G
G
 GT
GT
 1 a0008c0013t0001g0101
a0008c0013t0001g0101
 1 NA18939.hp1
NA18939.hp1
 intron_variant MODIFIER c.787+678dupT
c.787+678dupT
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 7/8 INFO_REALIGN_3_PRIME chrX 1633965
chrX:1633969
C
C
 CA
CA
 1 a0007c0012t0001g0109
a0007c0012t0001g0109
 1 NA18963.hp1
NA18963.hp1
 intron_variant MODIFIER c.787+680dupA
c.787+680dupA
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 7/8 INFO_REALIGN_3_PRIME chrX 1633969
chrX:1634053
G
G
 A
A
 1 a0001c0001t0002g0144
a0001c0001t0002g0144
 1 NA18906.hp2
NA18906.hp2
 intron_variant MODIFIER c.787+763G>A
c.787+763G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 7/8 chrX 1634053
chrX:1634060
A
A
 AC
AC
 1 a0007c0012t0001g0109
a0007c0012t0001g0109
 1 NA18963.hp1
NA18963.hp1
 intron_variant MODIFIER c.787+772dupC
c.787+772dupC
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 7/8 INFO_REALIGN_3_PRIME chrX 1634060
chrX:1634106
A
A
 AG
AG
 1 a0008c0013t0001g0101
a0008c0013t0001g0101
 1 NA18939.hp1
NA18939.hp1
 intron_variant MODIFIER c.787+819dupG
c.787+819dupG
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 7/8 INFO_REALIGN_3_PRIME chrX 1634106
chrX:1634117
G
G
 A
A
 1 a0002c0002t0001g0126
a0002c0002t0001g0126
 1 HG03239.hp2
HG03239.hp2
 intron_variant MODIFIER c.787+827G>A
c.787+827G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 7/8 chrX 1634117
chrX:1634172
A
A
 AT
AT
 1 a0001c0001t0001g0105
a0001c0001t0001g0105
 1 NA18973.hp2
NA18973.hp2
 intron_variant MODIFIER c.787+883dupT
c.787+883dupT
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 7/8 INFO_REALIGN_3_PRIME chrX 1634172
chrX:1634177
A
A
 AG
AG
 1 a0008c0013t0001g0101
a0008c0013t0001g0101
 1 NA18939.hp1
NA18939.hp1
 intron_variant MODIFIER c.787+887_787+888ins
others(1): Show 
c.787+887_787+888insG
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 7/8 chrX 1634177
chrX:1634180
CATAGTT
CATAGTT
 C
C
 1 a0003c0009t0001g0011
a0003c0009t0001g0011
 1 NA19030.hp2
NA19030.hp2
 intron_variant MODIFIER c.787+894_787+899del
others(6): Show 
c.787+894_787+899delGTTATA
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 7/8 INFO_REALIGN_3_PRIME chrX 1634180
chrX:1634214
T
T
 C
C
 1 a0003c0005t0001g0004
a0003c0005t0001g0004
 1 NA20300.hp2
NA20300.hp2
 intron_variant MODIFIER c.787+924T>C
c.787+924T>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 7/8 chrX 1634214
chrX:1634221
C
C
 T
T
 1 a0001c0001t0001g0103
a0001c0001t0001g0103
 1 NA19010.hp1
NA19010.hp1
 intron_variant MODIFIER c.787+931C>T
c.787+931C>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 7/8 chrX 1634221
chrX:1634225
G
G
 A
A
 39 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0058
others(36): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0058
a0001c0001t0001g0061
a0001c0001t0001g0064
a0001c0001t0001g0068
a0001c0001t0002g0039
a0001c0001t0002g0120
a0001c0001t0002g0167
a0001c0001t0002g0176
a0001c0001t0002g0201
a0002c0002t0001g0042
a0002c0002t0001g0044
a0002c0002t0001g0055
a0002c0002t0001g0066
a0002c0002t0001g0073
a0002c0002t0001g0085
a0002c0002t0001g0095
a0002c0002t0001g0108
a0002c0002t0001g0125
a0002c0002t0001g0129
a0002c0002t0001g0151
a0002c0002t0001g0185
a0002c0002t0001g0220
a0002c0002t0002g0096
a0002c0002t0002g0112
a0002c0002t0002g0131
a0002c0002t0002g0146
a0002c0002t0002g0162
a0002c0002t0002g0163
a0002c0002t0002g0166
a0002c0002t0002g0186
a0002c0002t0002g0207
a0002c0002t0002g0213
a0004c0004t0001g0169
a0007c0012t0001g0109
a0011c0008t0001g0034
a0012c0007t0001g0036
a0014c0018t0001g0060
 39 HG00438.hp1
HG00597.hp1
HG00733.hp2
others(36): Show 
HG00438.hp1
HG00597.hp1
HG00733.hp2
HG01256.hp1
HG01346.hp2
HG01496.hp1
HG01981.hp1
HG02004.hp2
HG02080.hp1
HG02080.hp2
HG02148.hp2
HG02155.hp2
HG02165.hp1
HG02523.hp2
HG03239.hp1
HG03831.hp1
HG03834.hp2
HG03927.hp2
HG04204.hp2
NA18941.hp1
NA18942.hp1
NA18942.hp2
NA18947.hp2
NA18954.hp2
NA18963.hp1
NA18968.hp1
NA18969.hp2
NA18975.hp1
NA18975.hp2
NA18981.hp1
NA18981.hp2
NA18988.hp1
NA18999.hp2
NA19003.hp1
NA19064.hp1
NA19074.hp1
NA19077.hp1
NA19080.hp2
NA19082.hp1
 intron_variant MODIFIER c.787+935G>A
c.787+935G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 7/8 chrX 1634225
chrX:1634250
G
G
 T
T
 12 a0001c0001t0001g0014
a0001c0001t0001g0017
a0001c0001t0001g0019
others(9): Show 
a0001c0001t0001g0014
a0001c0001t0001g0017
a0001c0001t0001g0019
a0001c0001t0001g0021
a0001c0001t0001g0121
a0001c0001t0001g0212
a0001c0001t0002g0184
a0001c0003t0001g0022
a0002c0002t0001g0020
a0003c0005t0001g0202
a0003c0009t0001g0011
a0005c0016t0001g0045
 12 HG00741.hp2
HG01891.hp2
HG02280.hp1
others(9): Show 
HG00741.hp2
HG01891.hp2
HG02280.hp1
HG02280.hp2
HG02922.hp1
HG03041.hp2
HG03195.hp1
HG06807.hp1
NA18906.hp1
NA19030.hp1
NA19030.hp2
NA20300.hp1
 intron_variant MODIFIER c.787+960G>T
c.787+960G>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 7/8 chrX 1634250
chrX:1634259
A
A
 AAG
AAG
 1 a0008c0013t0001g0101
a0008c0013t0001g0101
 1 NA18939.hp1
NA18939.hp1
 intron_variant MODIFIER c.787+970_787+971ins
others(2): Show 
c.787+970_787+971insGA
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 7/8 INFO_REALIGN_3_PRIME chrX 1634259
chrX:1634286
T
T
 TC
TC
 1 a0008c0013t0001g0101
a0008c0013t0001g0101
 1 NA18939.hp1
NA18939.hp1
 intron_variant MODIFIER c.787+997dupC
c.787+997dupC
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 7/8 INFO_REALIGN_3_PRIME chrX 1634286
chrX:1634312
T
T
 TC
TC
 1 a0008c0013t0001g0101
a0008c0013t0001g0101
 1 NA18939.hp1
NA18939.hp1
 intron_variant MODIFIER c.787+1023dupC
c.787+1023dupC
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 7/8 INFO_REALIGN_3_PRIME chrX 1634312
chrX:1634314
A
A
 G
G
 1 a0001c0003t0001g0171
a0001c0003t0001g0171
 1 NA21309.hp2
NA21309.hp2
 intron_variant MODIFIER c.787+1024A>G
c.787+1024A>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 7/8 chrX 1634314
chrX:1634317
T
T
 TCC
TCC
 1 a0008c0013t0001g0101
a0008c0013t0001g0101
 1 NA18939.hp1
NA18939.hp1
 intron_variant MODIFIER c.787+1031_787+1032d
others(4): Show 
c.787+1031_787+1032dupCC
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 7/8 INFO_REALIGN_3_PRIME chrX 1634317
chrX:1634317
TC
TC
 T
T
 1 a0001c0001t0001g0105
a0001c0001t0001g0105
 1 NA18973.hp2
NA18973.hp2
 intron_variant MODIFIER c.787+1032delC
c.787+1032delC
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 7/8 INFO_REALIGN_3_PRIME chrX 1634317
chrX:1634320
CCCAA
CCCAA
 C
C
 1 a0001c0001t0001g0081
a0001c0001t0001g0081
 1 NA18992.hp1
NA18992.hp1
 intron_variant MODIFIER c.787+1032_787+1035d
others(6): Show 
c.787+1032_787+1035delCAAC
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 7/8 INFO_REALIGN_3_PRIME chrX 1634320
chrX:1634333
T
T
 C
C
 9 a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0065
others(6): Show 
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0065
a0001c0001t0001g0084
a0001c0001t0001g0086
a0001c0001t0002g0147
a0001c0001t0002g0168
a0001c0001t0002g0170
a0002c0002t0002g0172
 9 HG00639.hp1
HG01070.hp1
HG01071.hp1
others(6): Show 
HG00639.hp1
HG01070.hp1
HG01071.hp1
NA18950.hp1
NA18954.hp1
NA18998.hp1
NA19011.hp1
NA19057.hp1
NA19081.hp2
 intron_variant MODIFIER c.787+1043T>C
c.787+1043T>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 7/8 chrX 1634333
chrX:1634351
T
T
 TC
TC
 1 a0008c0013t0001g0101
a0008c0013t0001g0101
 1 NA18939.hp1
NA18939.hp1
 intron_variant MODIFIER c.787+1062dupC
c.787+1062dupC
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 7/8 INFO_REALIGN_3_PRIME chrX 1634351
chrX:1634367
G
G
 A
A
 2 a0001c0001t0001g0040
a0001c0001t0001g0128
a0001c0001t0001g0040
a0001c0001t0001g0128
 2 HG00099.hp1
HG01975.hp2
HG00099.hp1
HG01975.hp2
 intron_variant MODIFIER c.787+1077G>A
c.787+1077G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 7/8 chrX 1634367
chrX:1634374
C
C
 T
T
 1 a0006c0011t0001g0139
a0006c0011t0001g0139
 1 HG02559.hp2
HG02559.hp2
 intron_variant MODIFIER c.787+1084C>T
c.787+1084C>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 7/8 chrX 1634374
chrX:1634414
A
A
 G
G
 48 a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0024
others(45): Show 
a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0043
a0001c0001t0001g0046
a0001c0001t0001g0077
a0001c0001t0001g0079
a0001c0001t0001g0174
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0209
a0001c0001t0001g0214
a0001c0001t0002g0145
a0001c0001t0002g0152
a0001c0001t0003g0090
a0001c0003t0001g0091
a0002c0002t0001g0003
a0002c0002t0001g0009
a0002c0002t0001g0026
a0002c0002t0001g0031
a0002c0002t0001g0052
a0002c0002t0001g0054
a0002c0002t0001g0057
a0002c0002t0001g0069
a0002c0002t0001g0078
a0002c0002t0001g0089
a0002c0002t0001g0098
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0119
a0002c0002t0001g0124
a0002c0002t0001g0127
a0002c0002t0001g0130
a0002c0002t0001g0189
a0002c0002t0001g0208
a0002c0002t0001g0222
a0002c0002t0002g0154
a0002c0002t0002g0156
a0002c0002t0002g0178
a0002c0002t0002g0183
a0002c0002t0002g0188
a0002c0002t0002g0191
a0002c0002t0002g0198
a0002c0002t0002g0199
a0002c0002t0002g0217
a0002c0006t0001g0104
a0004c0004t0004g0148
 49 HG00423.hp1
HG00597.hp2
HG00639.hp2
others(46): Show 
HG00423.hp1
HG00597.hp2
HG00639.hp2
HG00733.hp1
HG01123.hp2
HG01168.hp2
HG01175.hp2
HG01346.hp1
HG01361.hp1
HG01361.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01891.hp1
HG01978.hp2
HG02004.hp1
HG02109.hp1
HG02273.hp2
HG02293.hp2
HG02451.hp2
HG02559.hp1
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02976.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03831.hp1
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG06807.hp2
NA18939.hp2
NA18949.hp2
NA18955.hp1
NA18974.hp1
NA18998.hp2
NA19003.hp2
NA19062.hp1
NA19081.hp1
NA19240.hp1
NA20129.hp2
 intron_variant MODIFIER c.787+1124A>G
c.787+1124A>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 7/8 chrX 1634414
chrX:1634445
A
A
 AC
AC
 1 a0007c0012t0001g0109
a0007c0012t0001g0109
 1 NA18963.hp1
NA18963.hp1
 intron_variant MODIFIER c.787+1156dupC
c.787+1156dupC
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 7/8 INFO_REALIGN_3_PRIME chrX 1634445
chrX:1634520
G
G
 A
A
 7 a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0043
others(4): Show 
a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0043
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0209
a0001c0001t0002g0145
 8 HG02451.hp2
HG02559.hp1
HG02630.hp1
others(5): Show 
HG02451.hp2
HG02559.hp1
HG02630.hp1
HG02630.hp2
HG02809.hp2
HG02976.hp2
HG06807.hp2
NA19240.hp1
 intron_variant MODIFIER c.787+1230G>A
c.787+1230G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 7/8 chrX 1634520
chrX:1634532
AC
AC
 A
A
 1 a0008c0013t0001g0101
a0008c0013t0001g0101
 1 NA18939.hp1
NA18939.hp1
 intron_variant MODIFIER c.787+1245delC
c.787+1245delC
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 7/8 INFO_REALIGN_3_PRIME chrX 1634532
chrX:1634534
C
C
 G
G
 3 a0002c0002t0001g0020
a0003c0005t0001g0202
a0005c0016t0001g0045
a0002c0002t0001g0020
a0003c0005t0001g0202
a0005c0016t0001g0045
 3 HG02280.hp1
HG02922.hp1
NA19030.hp1
HG02280.hp1
HG02922.hp1
NA19030.hp1
 intron_variant MODIFIER c.787+1244C>G
c.787+1244C>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 7/8 chrX 1634534
chrX:1634638
A
A
 AG
AG
 1 a0008c0013t0001g0101
a0008c0013t0001g0101
 1 NA18939.hp1
NA18939.hp1
 intron_variant MODIFIER c.787+1350dupG
c.787+1350dupG
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 7/8 INFO_REALIGN_3_PRIME chrX 1634638
chrX:1634653
A
A
 AC
AC
 68 a0001c0001t0001g0001
a0001c0001t0001g0005
a0001c0001t0001g0006
others(65): Show 
a0001c0001t0001g0001
a0001c0001t0001g0005
a0001c0001t0001g0006
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0012
a0001c0001t0001g0014
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0019
a0001c0001t0001g0021
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0046
a0001c0001t0001g0065
a0001c0001t0001g0067
a0001c0001t0001g0071
a0001c0001t0001g0077
a0001c0001t0001g0097
a0001c0001t0001g0121
a0001c0001t0001g0138
a0001c0001t0001g0158
a0001c0001t0001g0174
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0209
a0001c0001t0001g0211
a0001c0001t0001g0215
a0001c0001t0002g0134
a0001c0001t0002g0143
a0001c0001t0002g0145
a0001c0001t0002g0152
a0001c0001t0002g0161
a0001c0003t0001g0022
a0001c0003t0001g0032
a0001c0003t0001g0033
a0001c0003t0001g0038
a0001c0003t0001g0050
a0001c0003t0001g0051
a0001c0003t0001g0059
a0001c0003t0001g0062
a0001c0003t0001g0070
a0001c0003t0001g0080
a0001c0003t0001g0091
a0001c0003t0001g0093
a0001c0003t0001g0094
a0001c0003t0001g0107
a0001c0003t0002g0133
a0001c0003t0002g0149
a0001c0003t0002g0150
a0001c0003t0002g0155
a0002c0002t0001g0009
a0002c0002t0001g0026
a0002c0002t0001g0054
a0002c0002t0001g0074
a0002c0002t0001g0119
a0002c0002t0001g0189
a0002c0002t0001g0210
a0002c0002t0002g0178
a0002c0002t0002g0183
a0002c0002t0002g0188
a0002c0006t0001g0104
a0002c0006t0001g0187
a0003c0009t0001g0011
a0004c0004t0004g0148
a0009c0014t0002g0075
a0010c0015t0002g0179
a0013c0017t0001g0111
 69 HG00323.hp2
HG00438.hp2
HG00544.hp2
others(66): Show 
HG00323.hp2
HG00438.hp2
HG00544.hp2
HG00597.hp2
HG00741.hp2
HG01071.hp2
HG01168.hp2
HG01884.hp1
HG01884.hp2
HG01975.hp1
HG01978.hp2
HG02155.hp1
HG02257.hp1
HG02273.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02559.hp1
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02683.hp2
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02922.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03195.hp1
HG03195.hp2
HG03486.hp2
HG03540.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03831.hp2
HG04184.hp1
HG04184.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18963.hp2
NA18968.hp2
NA18969.hp1
NA18973.hp1
NA18974.hp1
NA18977.hp2
NA18980.hp1
NA18980.hp2
NA18986.hp2
NA18998.hp2
NA19010.hp2
NA19011.hp1
NA19030.hp2
NA19057.hp2
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19072.hp2
NA19081.hp1
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA21309.hp1
 intron_variant MODIFIER c.787+1372dupC
c.787+1372dupC
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 7/8 INFO_REALIGN_3_PRIME chrX 1634653
chrX:1634653
A
A
 ACC
ACC
 22 a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0079
others(19): Show 
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0079
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0086
a0001c0001t0001g0212
a0001c0001t0002g0135
a0001c0001t0002g0147
a0001c0001t0002g0170
a0001c0001t0002g0184
a0001c0003t0001g0023
a0001c0003t0001g0030
a0001c0003t0001g0092
a0001c0003t0001g0113
a0001c0003t0001g0115
a0001c0003t0001g0193
a0001c0003t0001g0219
a0001c0003t0002g0142
a0001c0003t0002g0173
a0001c0003t0002g0177
a0002c0002t0001g0020
 22 HG00423.hp2
HG01070.hp1
HG01071.hp1
others(19): Show 
HG00423.hp2
HG01070.hp1
HG01071.hp1
HG01175.hp1
HG01891.hp2
HG01934.hp1
HG02280.hp1
HG02280.hp2
HG02615.hp2
HG03491.hp1
NA18941.hp2
NA18947.hp1
NA18950.hp1
NA18950.hp2
NA18954.hp1
NA18955.hp1
NA18956.hp1
NA18992.hp1
NA18992.hp2
NA18998.hp1
NA19011.hp2
NA19081.hp2
 intron_variant MODIFIER c.787+1371_787+1372d
others(4): Show 
c.787+1371_787+1372dupCC
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 7/8 INFO_REALIGN_3_PRIME chrX 1634653
chrX:1634653
A
A
 ACCC
ACCC
 5 a0001c0001t0002g0168
a0001c0003t0002g0182
a0002c0002t0002g0172
others(2): Show 
a0001c0001t0002g0168
a0001c0003t0002g0182
a0002c0002t0002g0172
a0003c0005t0001g0202
a0005c0016t0001g0045
 5 HG00639.hp1
HG02922.hp1
NA18985.hp1
others(2): Show 
HG00639.hp1
HG02922.hp1
NA18985.hp1
NA19030.hp1
NA19057.hp1
 intron_variant MODIFIER c.787+1370_787+1372d
others(5): Show 
c.787+1370_787+1372dupCCC
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 7/8 INFO_REALIGN_3_PRIME chrX 1634653
chrX:1634654
C
C
 CCA
CCA
 1 a0002c0002t0001g0031
a0002c0002t0001g0031
 1 HG02004.hp1
HG02004.hp1
 intron_variant MODIFIER c.787+1365_787+1366i
others(4): Show 
c.787+1365_787+1366insAC
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 7/8 INFO_REALIGN_3_PRIME chrX 1634654
chrX:1634655
C
C
 CA
CA
 21 a0001c0001t0001g0214
a0001c0001t0003g0090
a0002c0002t0001g0003
others(18): Show 
a0001c0001t0001g0214
a0001c0001t0003g0090
a0002c0002t0001g0003
a0002c0002t0001g0052
a0002c0002t0001g0057
a0002c0002t0001g0069
a0002c0002t0001g0078
a0002c0002t0001g0089
a0002c0002t0001g0098
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0124
a0002c0002t0001g0127
a0002c0002t0001g0130
a0002c0002t0001g0208
a0002c0002t0001g0222
a0002c0002t0002g0156
a0002c0002t0002g0191
a0002c0002t0002g0198
a0002c0002t0002g0199
a0002c0002t0002g0217
 21 HG00423.hp1
HG00733.hp1
HG01123.hp2
others(18): Show 
HG00423.hp1
HG00733.hp1
HG01123.hp2
HG01175.hp2
HG01346.hp1
HG01361.hp1
HG01361.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01891.hp1
HG02109.hp1
HG02293.hp2
HG02622.hp1
HG02818.hp2
HG03927.hp1
NA18939.hp2
NA18949.hp2
NA19003.hp2
NA19062.hp1
 intron_variant MODIFIER c.787+1365_787+1366i
others(3): Show 
c.787+1365_787+1366insA
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 7/8 chrX 1634655
chrX:1634655
C
C
 CG
CG
 2 a0001c0001t0001g0118
a0001c0003t0001g0171
a0001c0001t0001g0118
a0001c0003t0001g0171
 2 HG02109.hp2
NA21309.hp2
HG02109.hp2
NA21309.hp2
 intron_variant MODIFIER c.787+1365_787+1366i
others(3): Show 
c.787+1365_787+1366insG
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 7/8 chrX 1634655
chrX:1634661
C
C
 CT
CT
 1 a0002c0002t0002g0154
a0002c0002t0002g0154
 1 HG00639.hp2
HG00639.hp2
 intron_variant MODIFIER c.787+1371_787+1372i
others(3): Show 
c.787+1371_787+1372insT
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 7/8 chrX 1634661
chrX:1634662
C
C
 CT
CT
 1 a0007c0012t0001g0109
a0007c0012t0001g0109
 1 NA18963.hp1
NA18963.hp1
 intron_variant MODIFIER c.787+1381dupT
c.787+1381dupT
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 7/8 INFO_REALIGN_3_PRIME chrX 1634662
chrX:1634710
G
G
 GT
GT
 1 a0007c0012t0001g0109
a0007c0012t0001g0109
 1 NA18963.hp1
NA18963.hp1
 intron_variant MODIFIER c.787+1420_787+1421i
others(3): Show 
c.787+1420_787+1421insT
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 7/8 chrX 1634710
chrX:1634722
T
T
 TG
TG
 1 a0007c0012t0001g0109
a0007c0012t0001g0109
 1 NA18963.hp1
NA18963.hp1
 intron_variant MODIFIER c.787+1434dupG
c.787+1434dupG
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 7/8 INFO_REALIGN_3_PRIME chrX 1634722
chrX:1634726
G
G
 A
A
 41 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0058
others(38): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0058
a0001c0001t0001g0061
a0001c0001t0001g0064
a0001c0001t0001g0068
a0001c0001t0002g0039
a0001c0001t0002g0120
a0001c0001t0002g0167
a0001c0001t0002g0176
a0001c0001t0002g0201
a0002c0002t0001g0042
a0002c0002t0001g0044
a0002c0002t0001g0055
a0002c0002t0001g0066
a0002c0002t0001g0073
a0002c0002t0001g0085
a0002c0002t0001g0087
a0002c0002t0001g0095
a0002c0002t0001g0108
a0002c0002t0001g0125
a0002c0002t0001g0126
a0002c0002t0001g0129
a0002c0002t0001g0151
a0002c0002t0001g0185
a0002c0002t0001g0220
a0002c0002t0002g0096
a0002c0002t0002g0112
a0002c0002t0002g0131
a0002c0002t0002g0146
a0002c0002t0002g0162
a0002c0002t0002g0163
a0002c0002t0002g0166
a0002c0002t0002g0186
a0002c0002t0002g0207
a0002c0002t0002g0213
a0004c0004t0001g0169
a0007c0012t0001g0109
a0011c0008t0001g0034
a0012c0007t0001g0036
a0014c0018t0001g0060
 41 HG00438.hp1
HG00597.hp1
HG00733.hp2
others(38): Show 
HG00438.hp1
HG00597.hp1
HG00733.hp2
HG01168.hp1
HG01256.hp1
HG01346.hp2
HG01496.hp1
HG01981.hp1
HG02004.hp2
HG02080.hp1
HG02080.hp2
HG02148.hp2
HG02155.hp2
HG02165.hp1
HG02523.hp2
HG03239.hp1
HG03239.hp2
HG03831.hp1
HG03834.hp2
HG03927.hp2
HG04204.hp2
NA18941.hp1
NA18942.hp1
NA18942.hp2
NA18947.hp2
NA18954.hp2
NA18963.hp1
NA18968.hp1
NA18969.hp2
NA18975.hp1
NA18975.hp2
NA18981.hp1
NA18981.hp2
NA18988.hp1
NA18999.hp2
NA19003.hp1
NA19064.hp1
NA19074.hp1
NA19077.hp1
NA19080.hp2
NA19082.hp1
 intron_variant MODIFIER c.787+1436G>A
c.787+1436G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 7/8 chrX 1634726
chrX:1634786
C
C
 A
A
 2 a0001c0001t0001g0118
a0001c0003t0001g0171
a0001c0001t0001g0118
a0001c0003t0001g0171
 2 HG02109.hp2
NA21309.hp2
HG02109.hp2
NA21309.hp2
 intron_variant MODIFIER c.787+1496C>A
c.787+1496C>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 7/8 chrX 1634786
chrX:1634796
T
T
 G
G
 1 a0001c0001t0001g0005
a0001c0001t0001g0005
 1 NA18980.hp2
NA18980.hp2
 intron_variant MODIFIER c.787+1506T>G
c.787+1506T>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 7/8 chrX 1634796
chrX:1634849
T
T
 G
G
 1 a0001c0001t0001g0158
a0001c0001t0001g0158
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.787+1559T>G
c.787+1559T>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 7/8 chrX 1634849
chrX:1634873
G
G
 T
T
 8 a0002c0002t0001g0002
a0002c0002t0001g0015
a0002c0002t0001g0122
others(5): Show 
a0002c0002t0001g0002
a0002c0002t0001g0015
a0002c0002t0001g0122
a0002c0002t0001g0175
a0002c0002t0001g0221
a0002c0002t0002g0136
a0002c0002t0002g0159
a0002c0002t0002g0160
 8 HG01070.hp2
HG02896.hp2
HG03453.hp1
others(5): Show 
HG01070.hp2
HG02896.hp2
HG03453.hp1
HG03486.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp2
NA19240.hp2
 intron_variant MODIFIER c.788-1565G>T
c.788-1565G>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 7/8 chrX 1634873
chrX:1634884
T
T
 C
C
 47 a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0043
others(44): Show 
a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0043
a0001c0001t0001g0046
a0001c0001t0001g0077
a0001c0001t0001g0079
a0001c0001t0001g0118
a0001c0001t0001g0174
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0209
a0001c0001t0001g0214
a0001c0001t0002g0145
a0001c0001t0002g0152
a0001c0001t0003g0090
a0001c0003t0001g0091
a0001c0003t0001g0171
a0002c0002t0001g0003
a0002c0002t0001g0009
a0002c0002t0001g0026
a0002c0002t0001g0031
a0002c0002t0001g0052
a0002c0002t0001g0054
a0002c0002t0001g0057
a0002c0002t0001g0069
a0002c0002t0001g0078
a0002c0002t0001g0089
a0002c0002t0001g0098
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0119
a0002c0002t0001g0124
a0002c0002t0001g0127
a0002c0002t0001g0130
a0002c0002t0001g0189
a0002c0002t0001g0208
a0002c0002t0001g0222
a0002c0002t0002g0154
a0002c0002t0002g0156
a0002c0002t0002g0178
a0002c0002t0002g0183
a0002c0002t0002g0188
a0002c0002t0002g0198
a0002c0002t0002g0199
a0002c0002t0002g0217
a0002c0006t0001g0104
a0004c0004t0004g0148
 48 HG00423.hp1
HG00597.hp2
HG00639.hp2
others(45): Show 
HG00423.hp1
HG00597.hp2
HG00639.hp2
HG00733.hp1
HG01123.hp2
HG01168.hp2
HG01175.hp2
HG01346.hp1
HG01361.hp1
HG01361.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01891.hp1
HG01978.hp2
HG02004.hp1
HG02109.hp1
HG02109.hp2
HG02273.hp2
HG02293.hp2
HG02451.hp2
HG02559.hp1
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02976.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03831.hp2
HG03927.hp1
HG06807.hp2
NA18939.hp2
NA18949.hp2
NA18955.hp1
NA18974.hp1
NA18998.hp2
NA19003.hp2
NA19062.hp1
NA19081.hp1
NA19240.hp1
NA20129.hp2
NA21309.hp2
 intron_variant MODIFIER c.788-1554T>C
c.788-1554T>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 7/8 chrX 1634884
chrX:1634893
C
C
 CT
CT
 1 a0008c0013t0001g0101
a0008c0013t0001g0101
 1 NA18939.hp1
NA18939.hp1
 intron_variant MODIFIER c.788-1544dupT
c.788-1544dupT
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 7/8 INFO_REALIGN_3_PRIME chrX 1634893
chrX:1634900
C
C
 T
T
 2 a0001c0001t0001g0212
a0001c0001t0002g0184
a0001c0001t0001g0212
a0001c0001t0002g0184
 2 HG01891.hp2
HG02280.hp2
HG01891.hp2
HG02280.hp2
 intron_variant MODIFIER c.788-1538C>T
c.788-1538C>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 7/8 chrX 1634900
chrX:1634919
C
C
 G
G
 2 a0001c0001t0001g0007
a0001c0001t0001g0043
a0001c0001t0001g0007
a0001c0001t0001g0043
 2 HG02630.hp2
HG02976.hp2
HG02630.hp2
HG02976.hp2
 intron_variant MODIFIER c.788-1519C>G
c.788-1519C>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 7/8 chrX 1634919
chrX:1634946
G
G
 GT
GT
 1 a0008c0013t0001g0101
a0008c0013t0001g0101
 1 NA18939.hp1
NA18939.hp1
 intron_variant MODIFIER c.788-1491dupT
c.788-1491dupT
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 7/8 INFO_REALIGN_3_PRIME chrX 1634946
chrX:1634976
C
C
 CT
CT
 29 a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0017
others(26): Show 
a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0017
a0001c0001t0001g0019
a0001c0001t0001g0021
a0001c0001t0001g0043
a0001c0001t0001g0046
a0001c0001t0001g0068
a0001c0001t0001g0077
a0001c0001t0001g0079
a0001c0001t0001g0097
a0001c0001t0001g0174
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0209
a0001c0001t0002g0145
a0001c0001t0002g0152
a0001c0003t0001g0051
a0002c0002t0001g0009
a0002c0002t0001g0026
a0002c0002t0001g0054
a0002c0002t0001g0119
a0002c0002t0001g0189
a0002c0002t0002g0154
a0002c0002t0002g0178
a0002c0002t0002g0183
a0002c0002t0002g0188
a0002c0006t0001g0104
a0004c0004t0004g0148
 30 HG00639.hp2
HG00741.hp2
HG01168.hp2
others(27): Show 
HG00639.hp2
HG00741.hp2
HG01168.hp2
HG01346.hp2
HG01978.hp2
HG02273.hp2
HG02451.hp2
HG02559.hp1
HG02630.hp1
HG02630.hp2
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02976.hp2
HG03195.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03831.hp2
HG06807.hp2
NA18955.hp1
NA18963.hp2
NA18974.hp1
NA18998.hp2
NA19064.hp2
NA19081.hp1
NA19240.hp1
NA20129.hp2
NA20300.hp1
 intron_variant MODIFIER c.788-1446dupT
c.788-1446dupT
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 7/8 INFO_REALIGN_3_PRIME chrX 1634976
chrX:1634976
C
C
 CTT
CTT
 1 a0001c0003t0001g0091
a0001c0003t0001g0091
 1 HG00597.hp2
HG00597.hp2
 intron_variant MODIFIER c.788-1447_788-1446d
others(4): Show 
c.788-1447_788-1446dupTT
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 7/8 INFO_REALIGN_3_PRIME chrX 1634976
chrX:1634976
CT
CT
 C
C
 13 a0001c0001t0001g0118
a0001c0003t0001g0171
a0002c0002t0001g0002
others(10): Show 
a0001c0001t0001g0118
a0001c0003t0001g0171
a0002c0002t0001g0002
a0002c0002t0001g0015
a0002c0002t0001g0044
a0002c0002t0001g0122
a0002c0002t0001g0126
a0002c0002t0001g0175
a0002c0002t0001g0221
a0002c0002t0002g0136
a0002c0002t0002g0159
a0002c0002t0002g0160
a0002c0010t0001g0010
 13 HG01070.hp2
HG01256.hp1
HG02109.hp2
others(10): Show 
HG01070.hp2
HG01256.hp1
HG02109.hp2
HG02622.hp2
HG02896.hp2
HG03239.hp2
HG03453.hp1
HG03486.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp2
NA19240.hp2
NA21309.hp2
 intron_variant MODIFIER c.788-1446delT
c.788-1446delT
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 7/8 INFO_REALIGN_3_PRIME chrX 1634976
chrX:1634993
G
G
 C
C
 24 a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0043
others(21): Show 
a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0043
a0001c0001t0001g0046
a0001c0001t0001g0077
a0001c0001t0001g0079
a0001c0001t0001g0174
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0209
a0001c0001t0002g0145
a0001c0001t0002g0152
a0001c0003t0001g0091
a0002c0002t0001g0009
a0002c0002t0001g0026
a0002c0002t0001g0054
a0002c0002t0001g0119
a0002c0002t0001g0189
a0002c0002t0002g0154
a0002c0002t0002g0178
a0002c0002t0002g0183
a0002c0002t0002g0188
a0002c0006t0001g0104
a0004c0004t0004g0148
 25 HG00597.hp2
HG00639.hp2
HG01168.hp2
others(22): Show 
HG00597.hp2
HG00639.hp2
HG01168.hp2
HG01978.hp2
HG02273.hp2
HG02451.hp2
HG02559.hp1
HG02630.hp1
HG02630.hp2
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02976.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03831.hp2
HG06807.hp2
NA18955.hp1
NA18974.hp1
NA18998.hp2
NA19081.hp1
NA19240.hp1
NA20129.hp2
 intron_variant MODIFIER c.788-1445G>C
c.788-1445G>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 7/8 chrX 1634993
chrX:1634997
T
T
 C
C
 24 a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0043
others(21): Show 
a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0043
a0001c0001t0001g0046
a0001c0001t0001g0077
a0001c0001t0001g0079
a0001c0001t0001g0174
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0209
a0001c0001t0002g0145
a0001c0001t0002g0152
a0001c0003t0001g0091
a0002c0002t0001g0009
a0002c0002t0001g0026
a0002c0002t0001g0054
a0002c0002t0001g0119
a0002c0002t0001g0189
a0002c0002t0002g0154
a0002c0002t0002g0178
a0002c0002t0002g0183
a0002c0002t0002g0188
a0002c0006t0001g0104
a0004c0004t0004g0148
 25 HG00597.hp2
HG00639.hp2
HG01168.hp2
others(22): Show 
HG00597.hp2
HG00639.hp2
HG01168.hp2
HG01978.hp2
HG02273.hp2
HG02451.hp2
HG02559.hp1
HG02630.hp1
HG02630.hp2
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02976.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03831.hp2
HG06807.hp2
NA18955.hp1
NA18974.hp1
NA18998.hp2
NA19081.hp1
NA19240.hp1
NA20129.hp2
 intron_variant MODIFIER c.788-1441T>C
c.788-1441T>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 7/8 chrX 1634997
chrX:1635000
A
A
 T
T
 1 a0008c0013t0001g0101
a0008c0013t0001g0101
 1 NA18939.hp1
NA18939.hp1
 intron_variant MODIFIER c.788-1438A>T
c.788-1438A>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 7/8 chrX 1635000
chrX:1635006
G
G
 A
A
 24 a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0043
others(21): Show 
a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0043
a0001c0001t0001g0046
a0001c0001t0001g0077
a0001c0001t0001g0079
a0001c0001t0001g0174
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0209
a0001c0001t0002g0145
a0001c0001t0002g0152
a0001c0003t0001g0091
a0002c0002t0001g0009
a0002c0002t0001g0026
a0002c0002t0001g0054
a0002c0002t0001g0119
a0002c0002t0001g0189
a0002c0002t0002g0154
a0002c0002t0002g0178
a0002c0002t0002g0183
a0002c0002t0002g0188
a0002c0006t0001g0104
a0004c0004t0004g0148
 25 HG00597.hp2
HG00639.hp2
HG01168.hp2
others(22): Show 
HG00597.hp2
HG00639.hp2
HG01168.hp2
HG01978.hp2
HG02273.hp2
HG02451.hp2
HG02559.hp1
HG02630.hp1
HG02630.hp2
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02976.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03831.hp2
HG06807.hp2
NA18955.hp1
NA18974.hp1
NA18998.hp2
NA19081.hp1
NA19240.hp1
NA20129.hp2
 intron_variant MODIFIER c.788-1432G>A
c.788-1432G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 7/8 chrX 1635006
chrX:1635014
A
A
 G
G
 24 a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0043
others(21): Show 
a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0043
a0001c0001t0001g0046
a0001c0001t0001g0077
a0001c0001t0001g0079
a0001c0001t0001g0174
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0209
a0001c0001t0002g0145
a0001c0001t0002g0152
a0001c0003t0001g0091
a0002c0002t0001g0009
a0002c0002t0001g0026
a0002c0002t0001g0054
a0002c0002t0001g0119
a0002c0002t0001g0189
a0002c0002t0002g0154
a0002c0002t0002g0178
a0002c0002t0002g0183
a0002c0002t0002g0188
a0002c0006t0001g0104
a0004c0004t0004g0148
 25 HG00597.hp2
HG00639.hp2
HG01168.hp2
others(22): Show 
HG00597.hp2
HG00639.hp2
HG01168.hp2
HG01978.hp2
HG02273.hp2
HG02451.hp2
HG02559.hp1
HG02630.hp1
HG02630.hp2
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02976.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03831.hp2
HG06807.hp2
NA18955.hp1
NA18974.hp1
NA18998.hp2
NA19081.hp1
NA19240.hp1
NA20129.hp2
 intron_variant MODIFIER c.788-1424A>G
c.788-1424A>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 7/8 chrX 1635014
chrX:1635024
G
G
 A
A
 24 a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0043
others(21): Show 
a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0043
a0001c0001t0001g0046
a0001c0001t0001g0077
a0001c0001t0001g0079
a0001c0001t0001g0174
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0209
a0001c0001t0002g0145
a0001c0001t0002g0152
a0001c0003t0001g0091
a0002c0002t0001g0009
a0002c0002t0001g0026
a0002c0002t0001g0054
a0002c0002t0001g0119
a0002c0002t0001g0189
a0002c0002t0002g0154
a0002c0002t0002g0178
a0002c0002t0002g0183
a0002c0002t0002g0188
a0002c0006t0001g0104
a0004c0004t0004g0148
 25 HG00597.hp2
HG00639.hp2
HG01168.hp2
others(22): Show 
HG00597.hp2
HG00639.hp2
HG01168.hp2
HG01978.hp2
HG02273.hp2
HG02451.hp2
HG02559.hp1
HG02630.hp1
HG02630.hp2
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02976.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03831.hp2
HG06807.hp2
NA18955.hp1
NA18974.hp1
NA18998.hp2
NA19081.hp1
NA19240.hp1
NA20129.hp2
 intron_variant MODIFIER c.788-1414G>A
c.788-1414G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 7/8 chrX 1635024
chrX:1635035
T
T
 C
C
 24 a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0043
others(21): Show 
a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0043
a0001c0001t0001g0046
a0001c0001t0001g0077
a0001c0001t0001g0079
a0001c0001t0001g0174
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0209
a0001c0001t0002g0145
a0001c0001t0002g0152
a0001c0003t0001g0091
a0002c0002t0001g0009
a0002c0002t0001g0026
a0002c0002t0001g0054
a0002c0002t0001g0119
a0002c0002t0001g0189
a0002c0002t0002g0154
a0002c0002t0002g0178
a0002c0002t0002g0183
a0002c0002t0002g0188
a0002c0006t0001g0104
a0004c0004t0004g0148
 25 HG00597.hp2
HG00639.hp2
HG01168.hp2
others(22): Show 
HG00597.hp2
HG00639.hp2
HG01168.hp2
HG01978.hp2
HG02273.hp2
HG02451.hp2
HG02559.hp1
HG02630.hp1
HG02630.hp2
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02976.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03831.hp2
HG06807.hp2
NA18955.hp1
NA18974.hp1
NA18998.hp2
NA19081.hp1
NA19240.hp1
NA20129.hp2
 intron_variant MODIFIER c.788-1403T>C
c.788-1403T>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 7/8 chrX 1635035
chrX:1635037
G
G
 T
T
 24 a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0043
others(21): Show 
a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0043
a0001c0001t0001g0046
a0001c0001t0001g0077
a0001c0001t0001g0079
a0001c0001t0001g0174
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0209
a0001c0001t0002g0145
a0001c0001t0002g0152
a0001c0003t0001g0091
a0002c0002t0001g0009
a0002c0002t0001g0026
a0002c0002t0001g0054
a0002c0002t0001g0119
a0002c0002t0001g0189
a0002c0002t0002g0154
a0002c0002t0002g0178
a0002c0002t0002g0183
a0002c0002t0002g0188
a0002c0006t0001g0104
a0004c0004t0004g0148
 25 HG00597.hp2
HG00639.hp2
HG01168.hp2
others(22): Show 
HG00597.hp2
HG00639.hp2
HG01168.hp2
HG01978.hp2
HG02273.hp2
HG02451.hp2
HG02559.hp1
HG02630.hp1
HG02630.hp2
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02976.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03831.hp2
HG06807.hp2
NA18955.hp1
NA18974.hp1
NA18998.hp2
NA19081.hp1
NA19240.hp1
NA20129.hp2
 intron_variant MODIFIER c.788-1401G>T
c.788-1401G>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 7/8 chrX 1635037
chrX:1635067
C
C
 CG
CG
 1 a0007c0012t0001g0109
a0007c0012t0001g0109
 1 NA18963.hp1
NA18963.hp1
 intron_variant MODIFIER c.788-1368dupG
c.788-1368dupG
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 7/8 INFO_REALIGN_3_PRIME chrX 1635067
chrX:1635098
C
C
 T
T
 1 a0006c0011t0001g0139
a0006c0011t0001g0139
 1 HG02559.hp2
HG02559.hp2
 intron_variant MODIFIER c.788-1340C>T
c.788-1340C>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 7/8 chrX 1635098
chrX:1635124
A
A
 G
G
 152 a0001c0001t0001g0001
a0001c0001t0001g0005
a0001c0001t0001g0006
others(149): Show 
a0001c0001t0001g0001
a0001c0001t0001g0005
a0001c0001t0001g0006
a0001c0001t0001g0007
a0001c0001t0001g0012
a0001c0001t0001g0014
a0001c0001t0001g0017
a0001c0001t0001g0019
a0001c0001t0001g0021
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0046
a0001c0001t0001g0058
a0001c0001t0001g0061
a0001c0001t0001g0064
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0077
a0001c0001t0001g0079
a0001c0001t0001g0081
a0001c0001t0001g0097
a0001c0001t0001g0118
a0001c0001t0001g0121
a0001c0001t0001g0123
a0001c0001t0001g0174
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0209
a0001c0001t0001g0212
a0001c0001t0001g0214
a0001c0001t0002g0039
a0001c0001t0002g0120
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0002g0143
a0001c0001t0002g0145
a0001c0001t0002g0152
a0001c0001t0002g0161
a0001c0001t0002g0167
a0001c0001t0002g0176
a0001c0001t0002g0184
a0001c0001t0002g0201
a0001c0001t0003g0090
a0001c0003t0001g0022
a0001c0003t0001g0023
a0001c0003t0001g0030
a0001c0003t0001g0032
a0001c0003t0001g0033
a0001c0003t0001g0038
a0001c0003t0001g0050
a0001c0003t0001g0051
a0001c0003t0001g0059
a0001c0003t0001g0062
a0001c0003t0001g0070
a0001c0003t0001g0080
a0001c0003t0001g0091
a0001c0003t0001g0092
a0001c0003t0001g0093
a0001c0003t0001g0094
a0001c0003t0001g0107
a0001c0003t0001g0113
a0001c0003t0001g0115
a0001c0003t0001g0171
a0001c0003t0001g0193
a0001c0003t0001g0219
a0001c0003t0002g0133
a0001c0003t0002g0142
a0001c0003t0002g0149
a0001c0003t0002g0150
a0001c0003t0002g0155
a0001c0003t0002g0173
a0001c0003t0002g0177
a0001c0003t0002g0182
a0002c0002t0001g0002
a0002c0002t0001g0003
a0002c0002t0001g0009
a0002c0002t0001g0015
a0002c0002t0001g0020
a0002c0002t0001g0026
a0002c0002t0001g0031
a0002c0002t0001g0042
a0002c0002t0001g0044
a0002c0002t0001g0052
a0002c0002t0001g0054
a0002c0002t0001g0055
a0002c0002t0001g0057
a0002c0002t0001g0066
a0002c0002t0001g0069
a0002c0002t0001g0073
a0002c0002t0001g0074
a0002c0002t0001g0078
a0002c0002t0001g0087
a0002c0002t0001g0089
a0002c0002t0001g0095
a0002c0002t0001g0098
a0002c0002t0001g0108
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0119
a0002c0002t0001g0122
a0002c0002t0001g0124
a0002c0002t0001g0125
a0002c0002t0001g0126
a0002c0002t0001g0127
a0002c0002t0001g0129
a0002c0002t0001g0130
a0002c0002t0001g0151
a0002c0002t0001g0175
a0002c0002t0001g0185
a0002c0002t0001g0189
a0002c0002t0001g0208
a0002c0002t0001g0210
a0002c0002t0001g0220
a0002c0002t0001g0221
a0002c0002t0001g0222
a0002c0002t0002g0096
a0002c0002t0002g0112
a0002c0002t0002g0131
a0002c0002t0002g0136
a0002c0002t0002g0146
a0002c0002t0002g0154
a0002c0002t0002g0156
a0002c0002t0002g0159
a0002c0002t0002g0160
a0002c0002t0002g0162
a0002c0002t0002g0163
a0002c0002t0002g0166
a0002c0002t0002g0178
a0002c0002t0002g0183
a0002c0002t0002g0186
a0002c0002t0002g0188
a0002c0002t0002g0198
a0002c0002t0002g0199
a0002c0002t0002g0217
a0002c0006t0001g0104
a0002c0006t0001g0187
a0002c0010t0001g0010
a0003c0005t0001g0202
a0003c0009t0001g0011
a0004c0004t0001g0169
a0004c0004t0004g0148
a0005c0016t0001g0045
a0006c0011t0001g0139
a0007c0012t0001g0109
a0009c0014t0002g0075
a0010c0015t0002g0179
a0011c0008t0001g0034
a0012c0007t0001g0036
a0013c0017t0001g0111
a0014c0018t0001g0060
 153 HG00323.hp2
HG00423.hp1
HG00423.hp2
others(150): Show 
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp2
HG00597.hp1
HG00597.hp2
HG00639.hp2
HG00733.hp1
HG00733.hp2
HG00741.hp2
HG01070.hp2
HG01071.hp2
HG01123.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01256.hp1
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01496.hp1
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01975.hp1
HG01978.hp2
HG01981.hp1
HG02004.hp1
HG02004.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02257.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02683.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp2
HG02922.hp1
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03195.hp1
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03831.hp1
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18939.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18947.hp1
NA18949.hp2
NA18950.hp2
NA18954.hp2
NA18955.hp1
NA18956.hp1
NA18963.hp1
NA18963.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18973.hp1
NA18974.hp1
NA18975.hp1
NA18975.hp2
NA18977.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp2
NA18985.hp1
NA18986.hp2
NA18988.hp1
NA18992.hp1
NA18992.hp2
NA18998.hp2
NA19003.hp1
NA19003.hp2
NA19010.hp2
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19057.hp2
NA19062.hp1
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19072.hp2
NA19074.hp1
NA19077.hp1
NA19080.hp2
NA19081.hp1
NA19082.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.788-1314A>G
c.788-1314A>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 7/8 chrX 1635124
chrX:1635127
A
A
 AC
AC
 1 a0007c0012t0001g0109
a0007c0012t0001g0109
 1 NA18963.hp1
NA18963.hp1
 intron_variant MODIFIER c.788-1309dupC
c.788-1309dupC
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 7/8 INFO_REALIGN_3_PRIME chrX 1635127
chrX:1635128
C
C
 G
G
 15 a0001c0001t0001g0006
a0001c0001t0001g0014
a0001c0001t0001g0017
others(12): Show 
a0001c0001t0001g0006
a0001c0001t0001g0014
a0001c0001t0001g0017
a0001c0001t0001g0019
a0001c0001t0001g0021
a0001c0001t0001g0121
a0001c0001t0001g0123
a0001c0001t0001g0212
a0001c0001t0002g0135
a0001c0001t0002g0184
a0001c0003t0001g0022
a0002c0002t0001g0020
a0002c0002t0001g0074
a0003c0005t0001g0202
a0005c0016t0001g0045
 15 HG00741.hp2
HG01891.hp2
HG02280.hp1
others(12): Show 
HG00741.hp2
HG01891.hp2
HG02280.hp1
HG02280.hp2
HG02615.hp2
HG02809.hp1
HG02922.hp1
HG03041.hp2
HG03195.hp1
HG03540.hp1
HG06807.hp1
NA18906.hp1
NA19030.hp1
NA20300.hp1
NA21309.hp1
 intron_variant MODIFIER c.788-1310C>G
c.788-1310C>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 7/8 chrX 1635128
chrX:1635132
G
G
 A
A
 1 a0006c0011t0001g0139
a0006c0011t0001g0139
 1 HG02559.hp2
HG02559.hp2
 intron_variant MODIFIER c.788-1306G>A
c.788-1306G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 7/8 chrX 1635132
chrX:1635141
A
A
 AT
AT
 44 a0001c0001t0001g0008
a0001c0001t0001g0012
a0001c0001t0001g0016
others(41): Show 
a0001c0001t0001g0008
a0001c0001t0001g0012
a0001c0001t0001g0016
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0065
a0001c0001t0001g0071
a0001c0001t0001g0084
a0001c0001t0001g0086
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0211
a0001c0001t0001g0214
a0001c0001t0001g0215
a0001c0001t0002g0147
a0001c0001t0002g0168
a0001c0001t0002g0170
a0001c0001t0003g0090
a0001c0003t0001g0171
a0002c0002t0001g0003
a0002c0002t0001g0031
a0002c0002t0001g0057
a0002c0002t0001g0069
a0002c0002t0001g0078
a0002c0002t0001g0085
a0002c0002t0001g0089
a0002c0002t0001g0098
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0124
a0002c0002t0001g0127
a0002c0002t0001g0130
a0002c0002t0001g0189
a0002c0002t0001g0208
a0002c0002t0001g0222
a0002c0002t0002g0156
a0002c0002t0002g0172
a0002c0002t0002g0191
a0002c0002t0002g0198
a0002c0002t0002g0199
a0002c0002t0002g0207
a0002c0002t0002g0213
a0002c0002t0002g0217
a0006c0011t0001g0139
 44 HG00423.hp1
HG00639.hp1
HG00733.hp1
others(41): Show 
HG00423.hp1
HG00639.hp1
HG00733.hp1
HG01070.hp1
HG01071.hp1
HG01123.hp2
HG01175.hp2
HG01346.hp1
HG01361.hp1
HG01361.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01891.hp1
HG02004.hp1
HG02109.hp1
HG02257.hp1
HG02293.hp2
HG02451.hp1
HG02559.hp2
HG02622.hp1
HG02818.hp2
HG02886.hp2
HG02896.hp1
HG02922.hp2
HG03041.hp1
HG03927.hp1
NA18939.hp2
NA18947.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18954.hp1
NA18981.hp1
NA18998.hp1
NA18999.hp2
NA19003.hp2
NA19011.hp1
NA19057.hp1
NA19081.hp2
NA20129.hp1
NA21309.hp2
 intron_variant MODIFIER c.788-1281dupT
c.788-1281dupT
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 7/8 INFO_REALIGN_3_PRIME chrX 1635141
chrX:1635141
A
A
 ATT
ATT
 2 a0001c0001t0001g0205
a0002c0002t0001g0052
a0001c0001t0001g0205
a0002c0002t0001g0052
 2 HG02723.hp1
NA19062.hp1
HG02723.hp1
NA19062.hp1
 intron_variant MODIFIER c.788-1282_788-1281d
others(4): Show 
c.788-1282_788-1281dupTT
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 7/8 INFO_REALIGN_3_PRIME chrX 1635141
chrX:1635141
A
A
 ATTT
ATTT
 1 a0001c0001t0001g0118
a0001c0001t0001g0118
 1 HG02109.hp2
HG02109.hp2
 intron_variant MODIFIER c.788-1283_788-1281d
others(5): Show 
c.788-1283_788-1281dupTTT
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 7/8 INFO_REALIGN_3_PRIME chrX 1635141
chrX:1635141
AT
AT
 A
A
 91 a0001c0001t0001g0005
a0001c0001t0001g0006
a0001c0001t0001g0014
others(88): Show 
a0001c0001t0001g0005
a0001c0001t0001g0006
a0001c0001t0001g0014
a0001c0001t0001g0017
a0001c0001t0001g0019
a0001c0001t0001g0021
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0041
a0001c0001t0001g0058
a0001c0001t0001g0064
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0081
a0001c0001t0001g0097
a0001c0001t0001g0121
a0001c0001t0001g0123
a0001c0001t0001g0212
a0001c0001t0002g0039
a0001c0001t0002g0120
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0002g0143
a0001c0001t0002g0161
a0001c0001t0002g0167
a0001c0001t0002g0176
a0001c0001t0002g0184
a0001c0001t0002g0201
a0001c0003t0001g0022
a0001c0003t0001g0023
a0001c0003t0001g0030
a0001c0003t0001g0032
a0001c0003t0001g0033
a0001c0003t0001g0038
a0001c0003t0001g0050
a0001c0003t0001g0051
a0001c0003t0001g0059
a0001c0003t0001g0062
a0001c0003t0001g0070
a0001c0003t0001g0080
a0001c0003t0001g0092
a0001c0003t0001g0093
a0001c0003t0001g0094
a0001c0003t0001g0107
a0001c0003t0001g0113
a0001c0003t0001g0115
a0001c0003t0001g0193
a0001c0003t0001g0219
a0001c0003t0002g0133
a0001c0003t0002g0142
a0001c0003t0002g0149
a0001c0003t0002g0150
a0001c0003t0002g0155
a0001c0003t0002g0173
a0001c0003t0002g0177
a0001c0003t0002g0182
a0002c0002t0001g0020
a0002c0002t0001g0042
a0002c0002t0001g0044
a0002c0002t0001g0055
a0002c0002t0001g0066
a0002c0002t0001g0073
a0002c0002t0001g0074
a0002c0002t0001g0087
a0002c0002t0001g0095
a0002c0002t0001g0108
a0002c0002t0001g0125
a0002c0002t0001g0126
a0002c0002t0001g0129
a0002c0002t0001g0151
a0002c0002t0001g0185
a0002c0002t0001g0210
a0002c0002t0001g0220
a0002c0002t0002g0096
a0002c0002t0002g0112
a0002c0002t0002g0131
a0002c0002t0002g0146
a0002c0002t0002g0162
a0002c0002t0002g0163
a0002c0002t0002g0166
a0002c0002t0002g0186
a0002c0006t0001g0187
a0003c0005t0001g0202
a0003c0009t0001g0011
a0004c0004t0001g0169
a0005c0016t0001g0045
a0009c0014t0002g0075
a0011c0008t0001g0034
a0012c0007t0001g0036
a0013c0017t0001g0111
a0014c0018t0001g0060
 91 HG00323.hp2
HG00423.hp2
HG00438.hp1
others(88): Show 
HG00323.hp2
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp2
HG00597.hp1
HG00733.hp2
HG00741.hp2
HG01071.hp2
HG01168.hp1
HG01175.hp1
HG01256.hp1
HG01346.hp2
HG01496.hp1
HG01884.hp2
HG01891.hp2
HG01934.hp1
HG01975.hp1
HG02004.hp2
HG02080.hp1
HG02080.hp2
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02280.hp1
HG02280.hp2
HG02523.hp1
HG02523.hp2
HG02615.hp1
HG02615.hp2
HG02683.hp2
HG02809.hp1
HG02922.hp1
HG02976.hp1
HG03041.hp2
HG03195.hp1
HG03239.hp1
HG03239.hp2
HG03486.hp2
HG03491.hp1
HG03540.hp1
HG03831.hp1
HG03834.hp2
HG03927.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp2
HG06807.hp1
NA18906.hp1
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18947.hp1
NA18950.hp2
NA18954.hp2
NA18956.hp1
NA18963.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18973.hp1
NA18975.hp1
NA18975.hp2
NA18977.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp2
NA18985.hp1
NA18986.hp2
NA18988.hp1
NA18992.hp1
NA18992.hp2
NA19003.hp1
NA19010.hp2
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19057.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19074.hp1
NA19077.hp1
NA19080.hp2
NA19082.hp1
NA20300.hp1
NA21309.hp1
 intron_variant MODIFIER c.788-1281delT
c.788-1281delT
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 7/8 INFO_REALIGN_3_PRIME chrX 1635141
chrX:1635141
ATT
ATT
 A
A
 1 a0010c0015t0002g0179
a0010c0015t0002g0179
 1 NA19072.hp2
NA19072.hp2
 intron_variant MODIFIER c.788-1282_788-1281d
others(4): Show 
c.788-1282_788-1281delTT
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 7/8 INFO_REALIGN_3_PRIME chrX 1635141
chrX:1635160
AT
AT
 A
A
 1 a0010c0015t0002g0179
a0010c0015t0002g0179
 1 NA19072.hp2
NA19072.hp2
 intron_variant MODIFIER c.788-1273delT
c.788-1273delT
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 7/8 INFO_REALIGN_3_PRIME chrX 1635160
chrX:1635211
C
C
 T
T
 8 a0001c0001t0001g0008
a0001c0001t0001g0016
a0001c0001t0001g0071
others(5): Show 
a0001c0001t0001g0008
a0001c0001t0001g0016
a0001c0001t0001g0071
a0001c0001t0001g0138
a0001c0001t0001g0158
a0001c0001t0001g0211
a0001c0001t0001g0215
a0006c0011t0001g0139
 8 HG01884.hp1
HG02451.hp1
HG02559.hp2
others(5): Show 
HG01884.hp1
HG02451.hp1
HG02559.hp2
HG02896.hp1
HG02922.hp2
HG03041.hp1
HG03195.hp2
NA20129.hp1
 intron_variant MODIFIER c.788-1227C>T
c.788-1227C>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 7/8 chrX 1635211
chrX:1635232
G
G
 A
A
 1 a0006c0011t0001g0139
a0006c0011t0001g0139
 1 HG02559.hp2
HG02559.hp2
 intron_variant MODIFIER c.788-1206G>A
c.788-1206G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 7/8 chrX 1635232
chrX:1635263
C
C
 T
T
 2 a0002c0002t0001g0108
a0002c0002t0002g0112
a0002c0002t0001g0108
a0002c0002t0002g0112
 2 NA18941.hp1
NA19080.hp2
NA18941.hp1
NA19080.hp2
 intron_variant MODIFIER c.788-1175C>T
c.788-1175C>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 7/8 chrX 1635263
chrX:1635268
GC
GC
 G
G
 1 a0008c0013t0001g0101
a0008c0013t0001g0101
 1 NA18939.hp1
NA18939.hp1
 intron_variant MODIFIER c.788-1168delC
c.788-1168delC
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 7/8 INFO_REALIGN_3_PRIME chrX 1635268
chrX:1635276
G
G
 A
A
 23 a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0043
others(20): Show 
a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0043
a0001c0001t0001g0046
a0001c0001t0001g0077
a0001c0001t0001g0079
a0001c0001t0001g0174
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0209
a0001c0001t0002g0145
a0001c0001t0002g0152
a0001c0003t0001g0091
a0002c0002t0001g0009
a0002c0002t0001g0026
a0002c0002t0001g0054
a0002c0002t0001g0119
a0002c0002t0001g0189
a0002c0002t0002g0154
a0002c0002t0002g0178
a0002c0002t0002g0183
a0002c0002t0002g0188
a0002c0006t0001g0104
 24 HG00597.hp2
HG00639.hp2
HG01168.hp2
others(21): Show 
HG00597.hp2
HG00639.hp2
HG01168.hp2
HG01978.hp2
HG02273.hp2
HG02451.hp2
HG02559.hp1
HG02630.hp1
HG02630.hp2
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02976.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG06807.hp2
NA18955.hp1
NA18974.hp1
NA18998.hp2
NA19081.hp1
NA19240.hp1
NA20129.hp2
 intron_variant MODIFIER c.788-1162G>A
c.788-1162G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 7/8 chrX 1635276
chrX:1635350
C
C
 CG
CG
 1 a0008c0013t0001g0101
a0008c0013t0001g0101
 1 NA18939.hp1
NA18939.hp1
 intron_variant MODIFIER c.788-1085dupG
c.788-1085dupG
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 7/8 INFO_REALIGN_3_PRIME chrX 1635350
chrX:1635361
T
T
 TG
TG
 1 a0008c0013t0001g0101
a0008c0013t0001g0101
 1 NA18939.hp1
NA18939.hp1
 intron_variant MODIFIER c.788-1076dupG
c.788-1076dupG
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 7/8 INFO_REALIGN_3_PRIME chrX 1635361
chrX:1635391
C
C
 CA
CA
 1 a0007c0012t0001g0109
a0007c0012t0001g0109
 1 NA18963.hp1
NA18963.hp1
 intron_variant MODIFIER c.788-1046dupA
c.788-1046dupA
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 7/8 INFO_REALIGN_3_PRIME chrX 1635391
chrX:1635425
ATCTGG
ATCTGG
 A
A
 1 a0001c0001t0002g0134
a0001c0001t0002g0134
 1 HG02615.hp1
HG02615.hp1
 intron_variant MODIFIER c.788-1012_788-1008d
others(7): Show 
c.788-1012_788-1008delTCTGG
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 7/8 chrX 1635425
chrX:1635485
C
C
 G
G
 1 a0004c0004t0001g0169
a0004c0004t0001g0169
 1 HG02080.hp2
HG02080.hp2
 intron_variant MODIFIER c.788-953C>G
c.788-953C>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 7/8 chrX 1635485
chrX:1635512
C
C
 T
T
 1 a0001c0001t0002g0141
a0001c0001t0002g0141
 1 HG03491.hp2
HG03491.hp2
 intron_variant MODIFIER c.788-926C>T
c.788-926C>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 7/8 chrX 1635512
chrX:1635535
A
A
 T
T
 2 a0001c0001t0001g0118
a0001c0003t0001g0171
a0001c0001t0001g0118
a0001c0003t0001g0171
 2 HG02109.hp2
NA21309.hp2
HG02109.hp2
NA21309.hp2
 intron_variant MODIFIER c.788-903A>T
c.788-903A>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 7/8 chrX 1635535
chrX:1635539
C
C
 G
G
 2 a0001c0001t0001g0118
a0001c0003t0001g0171
a0001c0001t0001g0118
a0001c0003t0001g0171
 2 HG02109.hp2
NA21309.hp2
HG02109.hp2
NA21309.hp2
 intron_variant MODIFIER c.788-899C>G
c.788-899C>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 7/8 chrX 1635539
chrX:1635578
TG
TG
 T
T
 1 a0008c0013t0001g0101
a0008c0013t0001g0101
 1 NA18939.hp1
NA18939.hp1
 intron_variant MODIFIER c.788-857delG
c.788-857delG
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 7/8 INFO_REALIGN_3_PRIME chrX 1635578
chrX:1635583
C
C
 T
T
 2 a0001c0001t0001g0118
a0001c0003t0001g0171
a0001c0001t0001g0118
a0001c0003t0001g0171
 2 HG02109.hp2
NA21309.hp2
HG02109.hp2
NA21309.hp2
 intron_variant MODIFIER c.788-855C>T
c.788-855C>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 7/8 chrX 1635583
chrX:1635598
A
A
 G
G
 1 a0001c0001t0001g0121
a0001c0001t0001g0121
 1 HG03041.hp2
HG03041.hp2
 intron_variant MODIFIER c.788-840A>G
c.788-840A>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 7/8 chrX 1635598
chrX:1635633
G
G
 A
A
 2 a0001c0001t0001g0118
a0001c0003t0001g0171
a0001c0001t0001g0118
a0001c0003t0001g0171
 2 HG02109.hp2
NA21309.hp2
HG02109.hp2
NA21309.hp2
 intron_variant MODIFIER c.788-805G>A
c.788-805G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 7/8 chrX 1635633
chrX:1635691
A
A
 G
G
 2 a0001c0001t0001g0118
a0001c0003t0001g0171
a0001c0001t0001g0118
a0001c0003t0001g0171
 2 HG02109.hp2
NA21309.hp2
HG02109.hp2
NA21309.hp2
 intron_variant MODIFIER c.788-747A>G
c.788-747A>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 7/8 chrX 1635691
chrX:1635718
C
C
 T
T
 2 a0001c0001t0001g0118
a0001c0003t0001g0171
a0001c0001t0001g0118
a0001c0003t0001g0171
 2 HG02109.hp2
NA21309.hp2
HG02109.hp2
NA21309.hp2
 intron_variant MODIFIER c.788-720C>T
c.788-720C>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 7/8 chrX 1635718
chrX:1635730
C
C
 CG
CG
 1 a0008c0013t0001g0101
a0008c0013t0001g0101
 1 NA18939.hp1
NA18939.hp1
 intron_variant MODIFIER c.788-705dupG
c.788-705dupG
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 7/8 INFO_REALIGN_3_PRIME chrX 1635730
chrX:1635731
G
G
 A
A
 73 a0001c0001t0001g0005
a0001c0001t0001g0006
a0001c0001t0001g0014
others(70): Show 
a0001c0001t0001g0005
a0001c0001t0001g0006
a0001c0001t0001g0014
a0001c0001t0001g0017
a0001c0001t0001g0019
a0001c0001t0001g0021
a0001c0001t0001g0041
a0001c0001t0001g0067
a0001c0001t0001g0097
a0001c0001t0001g0118
a0001c0001t0001g0121
a0001c0001t0001g0212
a0001c0001t0001g0214
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0002g0143
a0001c0001t0002g0161
a0001c0001t0002g0184
a0001c0001t0003g0090
a0001c0003t0001g0022
a0001c0003t0001g0023
a0001c0003t0001g0030
a0001c0003t0001g0032
a0001c0003t0001g0033
a0001c0003t0001g0038
a0001c0003t0001g0050
a0001c0003t0001g0051
a0001c0003t0001g0059
a0001c0003t0001g0062
a0001c0003t0001g0070
a0001c0003t0001g0080
a0001c0003t0001g0092
a0001c0003t0001g0093
a0001c0003t0001g0094
a0001c0003t0001g0107
a0001c0003t0001g0113
a0001c0003t0001g0115
a0001c0003t0001g0171
a0001c0003t0001g0193
a0001c0003t0001g0219
a0001c0003t0002g0133
a0001c0003t0002g0142
a0001c0003t0002g0149
a0001c0003t0002g0150
a0001c0003t0002g0155
a0001c0003t0002g0173
a0001c0003t0002g0177
a0001c0003t0002g0182
a0002c0002t0001g0003
a0002c0002t0001g0052
a0002c0002t0001g0057
a0002c0002t0001g0069
a0002c0002t0001g0074
a0002c0002t0001g0078
a0002c0002t0001g0089
a0002c0002t0001g0098
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0124
a0002c0002t0001g0127
a0002c0002t0001g0130
a0002c0002t0001g0208
a0002c0002t0001g0222
a0002c0002t0002g0156
a0002c0002t0002g0188
a0002c0002t0002g0198
a0002c0002t0002g0199
a0002c0002t0002g0217
a0002c0006t0001g0187
a0003c0009t0001g0011
a0006c0011t0001g0139
a0010c0015t0002g0179
a0013c0017t0001g0111
 73 HG00323.hp2
HG00423.hp1
HG00423.hp2
others(70): Show 
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp2
HG00544.hp2
HG00733.hp1
HG00741.hp2
HG01071.hp2
HG01123.hp2
HG01175.hp1
HG01175.hp2
HG01346.hp1
HG01361.hp1
HG01361.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01975.hp1
HG02109.hp1
HG02109.hp2
HG02155.hp1
HG02280.hp2
HG02293.hp2
HG02523.hp1
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02818.hp2
HG03041.hp2
HG03195.hp1
HG03486.hp2
HG03491.hp1
HG03540.hp1
HG03669.hp1
HG03927.hp1
HG04184.hp1
HG04184.hp2
HG06807.hp1
NA18906.hp1
NA18939.hp2
NA18941.hp2
NA18947.hp1
NA18949.hp2
NA18950.hp2
NA18956.hp1
NA18963.hp2
NA18968.hp2
NA18969.hp1
NA18973.hp1
NA18977.hp2
NA18980.hp1
NA18980.hp2
NA18985.hp1
NA18986.hp2
NA18992.hp2
NA19003.hp2
NA19010.hp2
NA19011.hp2
NA19030.hp2
NA19057.hp2
NA19062.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19072.hp2
NA20300.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.788-707G>A
c.788-707G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 7/8 chrX 1635731
chrX:1635732
G
G
 A
A
 2 a0001c0001t0001g0118
a0001c0003t0001g0171
a0001c0001t0001g0118
a0001c0003t0001g0171
 2 HG02109.hp2
NA21309.hp2
HG02109.hp2
NA21309.hp2
 intron_variant MODIFIER c.788-706G>A
c.788-706G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 7/8 chrX 1635732
chrX:1635732
G
G
 T
T
 78 a0001c0001t0001g0005
a0001c0001t0001g0006
a0001c0001t0001g0008
others(75): Show 
a0001c0001t0001g0005
a0001c0001t0001g0006
a0001c0001t0001g0008
a0001c0001t0001g0014
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0019
a0001c0001t0001g0021
a0001c0001t0001g0041
a0001c0001t0001g0067
a0001c0001t0001g0071
a0001c0001t0001g0097
a0001c0001t0001g0121
a0001c0001t0001g0138
a0001c0001t0001g0158
a0001c0001t0001g0211
a0001c0001t0001g0212
a0001c0001t0001g0214
a0001c0001t0001g0215
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0002g0143
a0001c0001t0002g0161
a0001c0001t0002g0184
a0001c0001t0003g0090
a0001c0003t0001g0022
a0001c0003t0001g0023
a0001c0003t0001g0030
a0001c0003t0001g0032
a0001c0003t0001g0033
a0001c0003t0001g0038
a0001c0003t0001g0050
a0001c0003t0001g0051
a0001c0003t0001g0059
a0001c0003t0001g0062
a0001c0003t0001g0070
a0001c0003t0001g0080
a0001c0003t0001g0092
a0001c0003t0001g0093
a0001c0003t0001g0094
a0001c0003t0001g0107
a0001c0003t0001g0113
a0001c0003t0001g0115
a0001c0003t0001g0193
a0001c0003t0001g0219
a0001c0003t0002g0133
a0001c0003t0002g0142
a0001c0003t0002g0149
a0001c0003t0002g0150
a0001c0003t0002g0155
a0001c0003t0002g0173
a0001c0003t0002g0177
a0001c0003t0002g0182
a0002c0002t0001g0003
a0002c0002t0001g0052
a0002c0002t0001g0057
a0002c0002t0001g0069
a0002c0002t0001g0074
a0002c0002t0001g0078
a0002c0002t0001g0089
a0002c0002t0001g0098
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0124
a0002c0002t0001g0127
a0002c0002t0001g0130
a0002c0002t0001g0208
a0002c0002t0001g0222
a0002c0002t0002g0156
a0002c0002t0002g0188
a0002c0002t0002g0198
a0002c0002t0002g0199
a0002c0002t0002g0217
a0002c0006t0001g0187
a0003c0009t0001g0011
a0006c0011t0001g0139
a0010c0015t0002g0179
a0013c0017t0001g0111
 78 HG00323.hp2
HG00423.hp1
HG00423.hp2
others(75): Show 
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp2
HG00544.hp2
HG00733.hp1
HG00741.hp2
HG01071.hp2
HG01123.hp2
HG01175.hp1
HG01175.hp2
HG01346.hp1
HG01361.hp1
HG01361.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01975.hp1
HG02109.hp1
HG02155.hp1
HG02280.hp2
HG02293.hp2
HG02451.hp1
HG02523.hp1
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02818.hp2
HG02896.hp1
HG02922.hp2
HG03041.hp1
HG03041.hp2
HG03195.hp1
HG03195.hp2
HG03486.hp2
HG03491.hp1
HG03540.hp1
HG03669.hp1
HG03927.hp1
HG04184.hp1
HG04184.hp2
HG06807.hp1
NA18906.hp1
NA18939.hp2
NA18941.hp2
NA18947.hp1
NA18949.hp2
NA18950.hp2
NA18956.hp1
NA18963.hp2
NA18968.hp2
NA18969.hp1
NA18973.hp1
NA18977.hp2
NA18980.hp1
NA18980.hp2
NA18985.hp1
NA18986.hp2
NA18992.hp2
NA19003.hp2
NA19010.hp2
NA19011.hp2
NA19030.hp2
NA19057.hp2
NA19062.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19072.hp2
NA20129.hp1
NA20300.hp1
NA21309.hp1
 intron_variant MODIFIER c.788-706G>T
c.788-706G>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 7/8 chrX 1635732
chrX:1635791
G
G
 GA
GA
 1 a0001c0001t0001g0081
a0001c0001t0001g0081
 1 NA18992.hp1
NA18992.hp1
 intron_variant MODIFIER c.788-647_788-646ins
others(1): Show 
c.788-647_788-646insA
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 7/8 chrX 1635791
chrX:1635803
G
G
 A
A
 7 a0001c0001t0001g0008
a0001c0001t0001g0016
a0001c0001t0001g0071
others(4): Show 
a0001c0001t0001g0008
a0001c0001t0001g0016
a0001c0001t0001g0071
a0001c0001t0001g0138
a0001c0001t0001g0158
a0001c0001t0001g0211
a0001c0001t0001g0215
 7 HG01884.hp1
HG02451.hp1
HG02896.hp1
others(4): Show 
HG01884.hp1
HG02451.hp1
HG02896.hp1
HG02922.hp2
HG03041.hp1
HG03195.hp2
NA20129.hp1
 intron_variant MODIFIER c.788-635G>A
c.788-635G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 7/8 chrX 1635803
chrX:1635810
T
T
 C
C
 74 a0001c0001t0001g0012
a0001c0001t0001g0024
a0001c0001t0001g0025
others(71): Show 
a0001c0001t0001g0012
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0058
a0001c0001t0001g0061
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0068
a0001c0001t0001g0118
a0001c0001t0001g0123
a0001c0001t0002g0039
a0001c0001t0002g0120
a0001c0001t0002g0167
a0001c0001t0002g0176
a0001c0001t0002g0201
a0001c0003t0001g0171
a0002c0002t0001g0002
a0002c0002t0001g0003
a0002c0002t0001g0015
a0002c0002t0001g0020
a0002c0002t0001g0042
a0002c0002t0001g0044
a0002c0002t0001g0052
a0002c0002t0001g0054
a0002c0002t0001g0055
a0002c0002t0001g0057
a0002c0002t0001g0066
a0002c0002t0001g0073
a0002c0002t0001g0078
a0002c0002t0001g0087
a0002c0002t0001g0089
a0002c0002t0001g0095
a0002c0002t0001g0098
a0002c0002t0001g0108
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0122
a0002c0002t0001g0124
a0002c0002t0001g0125
a0002c0002t0001g0126
a0002c0002t0001g0127
a0002c0002t0001g0129
a0002c0002t0001g0130
a0002c0002t0001g0151
a0002c0002t0001g0175
a0002c0002t0001g0185
a0002c0002t0001g0220
a0002c0002t0001g0221
a0002c0002t0001g0222
a0002c0002t0002g0096
a0002c0002t0002g0112
a0002c0002t0002g0131
a0002c0002t0002g0136
a0002c0002t0002g0146
a0002c0002t0002g0156
a0002c0002t0002g0159
a0002c0002t0002g0160
a0002c0002t0002g0162
a0002c0002t0002g0163
a0002c0002t0002g0166
a0002c0002t0002g0186
a0002c0002t0002g0188
a0002c0002t0002g0198
a0002c0002t0002g0199
a0002c0002t0002g0217
a0002c0010t0001g0010
a0003c0005t0001g0202
a0004c0004t0001g0169
a0005c0016t0001g0045
a0007c0012t0001g0109
a0009c0014t0002g0075
a0011c0008t0001g0034
a0012c0007t0001g0036
a0014c0018t0001g0060
 74 HG00423.hp1
HG00438.hp1
HG00597.hp1
others(71): Show 
HG00423.hp1
HG00438.hp1
HG00597.hp1
HG00733.hp1
HG00733.hp2
HG01070.hp2
HG01081.hp2
HG01123.hp2
HG01168.hp1
HG01175.hp2
HG01256.hp1
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01496.hp1
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01981.hp1
HG02004.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp2
HG02148.hp2
HG02155.hp2
HG02165.hp1
HG02257.hp1
HG02280.hp1
HG02293.hp2
HG02523.hp2
HG02622.hp2
HG02683.hp2
HG02809.hp1
HG02896.hp2
HG02922.hp1
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03486.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03669.hp1
HG03831.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG04204.hp2
NA18939.hp2
NA18941.hp1
NA18942.hp1
NA18942.hp2
NA18949.hp2
NA18954.hp2
NA18963.hp1
NA18968.hp1
NA18969.hp2
NA18974.hp1
NA18975.hp1
NA18975.hp2
NA18981.hp2
NA18988.hp1
NA19003.hp1
NA19003.hp2
NA19030.hp1
NA19062.hp1
NA19064.hp1
NA19074.hp1
NA19077.hp1
NA19080.hp2
NA19082.hp1
NA19240.hp2
NA21309.hp2
 intron_variant MODIFIER c.788-628T>C
c.788-628T>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 7/8 chrX 1635810
chrX:1635861
T
T
 TCAAACAA
others(1): Show 
TCAAACAAA
 2 a0001c0001t0001g0118
a0001c0003t0001g0171
a0001c0001t0001g0118
a0001c0003t0001g0171
 2 HG02109.hp2
NA21309.hp2
HG02109.hp2
NA21309.hp2
 intron_variant MODIFIER c.788-564_788-557dup
others(8): Show 
c.788-564_788-557dupCAAACAAA
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 7/8 INFO_REALIGN_3_PRIME chrX 1635861
chrX:1635861
TCAAA
TCAAA
 T
T
 1 a0001c0001t0001g0121
a0001c0001t0001g0121
 1 HG03041.hp2
HG03041.hp2
 intron_variant MODIFIER c.788-560_788-557del
others(4): Show 
c.788-560_788-557delCAAA
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 7/8 INFO_REALIGN_3_PRIME chrX 1635861
chrX:1635870
C
C
 CA
CA
 1 a0007c0012t0001g0109
a0007c0012t0001g0109
 1 NA18963.hp1
NA18963.hp1
 intron_variant MODIFIER c.788-565dupA
c.788-565dupA
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 7/8 INFO_REALIGN_3_PRIME chrX 1635870
chrX:1635874
CAAACAAA
others(1): Show 
CAAACAAAA
 C
C
 6 a0001c0001t0001g0065
a0001c0001t0001g0084
a0001c0001t0001g0086
others(3): Show 
a0001c0001t0001g0065
a0001c0001t0001g0084
a0001c0001t0001g0086
a0001c0001t0002g0147
a0001c0001t0002g0170
a0002c0002t0002g0172
 6 NA18950.hp1
NA18954.hp1
NA18998.hp1
others(3): Show 
NA18950.hp1
NA18954.hp1
NA18998.hp1
NA19011.hp1
NA19057.hp1
NA19081.hp2
 intron_variant MODIFIER c.788-553_788-546del
others(8): Show 
c.788-553_788-546delACAAAAAA
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 7/8 INFO_REALIGN_3_PRIME chrX 1635874
chrX:1635886
CA
CA
 C
C
 2 a0001c0001t0001g0081
a0002c0002t0001g0015
a0001c0001t0001g0081
a0002c0002t0001g0015
 2 HG02896.hp2
NA18992.hp1
HG02896.hp2
NA18992.hp1
 intron_variant MODIFIER c.788-546delA
c.788-546delA
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 7/8 INFO_REALIGN_3_PRIME chrX 1635886
chrX:1635893
G
G
 GA
GA
 1 a0007c0012t0001g0109
a0007c0012t0001g0109
 1 NA18963.hp1
NA18963.hp1
 intron_variant MODIFIER c.788-542dupA
c.788-542dupA
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 7/8 INFO_REALIGN_3_PRIME chrX 1635893
chrX:1635907
A
A
 AT
AT
 2 a0001c0001t0001g0058
a0002c0002t0001g0185
a0001c0001t0001g0058
a0002c0002t0001g0185
 2 NA18981.hp2
NA19074.hp1
NA18981.hp2
NA19074.hp1
 intron_variant MODIFIER c.788-522dupT
c.788-522dupT
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 7/8 INFO_REALIGN_3_PRIME chrX 1635907
chrX:1635961
T
T
 TTTC
TTTC
 1 a0001c0001t0001g0081
a0001c0001t0001g0081
 1 NA18992.hp1
NA18992.hp1
 intron_variant MODIFIER c.788-476_788-475ins
others(3): Show 
c.788-476_788-475insTCT
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 7/8 INFO_REALIGN_3_PRIME chrX 1635961
chrX:1635963
C
C
 CT
CT
 5 a0001c0001t0001g0105
a0002c0002t0001g0009
a0002c0002t0002g0188
others(2): Show 
a0001c0001t0001g0105
a0002c0002t0001g0009
a0002c0002t0002g0188
a0002c0006t0001g0187
a0008c0013t0001g0101
 5 HG00544.hp2
HG02886.hp1
HG03669.hp1
others(2): Show 
HG00544.hp2
HG02886.hp1
HG03669.hp1
NA18939.hp1
NA18973.hp2
 intron_variant MODIFIER c.788-462dupT
c.788-462dupT
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 7/8 INFO_REALIGN_3_PRIME chrX 1635963
chrX:1635963
C
C
 CTTTT
CTTTT
 11 a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0065
others(8): Show 
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0065
a0001c0001t0001g0084
a0001c0001t0001g0086
a0001c0001t0001g0205
a0001c0001t0002g0147
a0001c0001t0002g0168
a0001c0001t0002g0170
a0002c0002t0002g0172
a0002c0002t0002g0191
 11 HG00639.hp1
HG01070.hp1
HG01071.hp1
others(8): Show 
HG00639.hp1
HG01070.hp1
HG01071.hp1
HG01517.hp2
HG02723.hp1
NA18950.hp1
NA18954.hp1
NA18998.hp1
NA19011.hp1
NA19057.hp1
NA19081.hp2
 intron_variant MODIFIER c.788-465_788-462dup
others(4): Show 
c.788-465_788-462dupTTTT
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 7/8 INFO_REALIGN_3_PRIME chrX 1635963
chrX:1635963
C
C
 T
T
 1 a0001c0001t0001g0081
a0001c0001t0001g0081
 1 NA18992.hp1
NA18992.hp1
 intron_variant MODIFIER c.788-475C>T
c.788-475C>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 7/8 chrX 1635963
chrX:1635963
CT
CT
 C
C
 4 a0001c0001t0001g0118
a0001c0003t0001g0171
a0002c0002t0001g0116
others(1): Show 
a0001c0001t0001g0118
a0001c0003t0001g0171
a0002c0002t0001g0116
a0002c0002t0002g0186
 4 HG01516.hp1
HG02109.hp2
NA18968.hp1
others(1): Show 
HG01516.hp1
HG02109.hp2
NA18968.hp1
NA21309.hp2
 intron_variant MODIFIER c.788-462delT
c.788-462delT
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 7/8 INFO_REALIGN_3_PRIME chrX 1635963
chrX:1635964
T
T
 C
C
 2 a0001c0001t0001g0007
a0001c0001t0001g0043
a0001c0001t0001g0007
a0001c0001t0001g0043
 2 HG02630.hp2
HG02976.hp2
HG02630.hp2
HG02976.hp2
 intron_variant MODIFIER c.788-474T>C
c.788-474T>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 7/8 chrX 1635964
chrX:1635989
G
G
 T
T
 1 a0001c0001t0001g0053
a0001c0001t0001g0053
 1 HG01257.hp1
HG01257.hp1
 intron_variant MODIFIER c.788-449G>T
c.788-449G>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 7/8 chrX 1635989
chrX:1635994
C
C
 T
T
 1 a0001c0001t0001g0102
a0001c0001t0001g0102
 1 NA18956.hp2
NA18956.hp2
 intron_variant MODIFIER c.788-444C>T
c.788-444C>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 7/8 chrX 1635994
chrX:1635995
G
G
 A
A
 2 a0003c0005t0001g0202
a0005c0016t0001g0045
a0003c0005t0001g0202
a0005c0016t0001g0045
 2 HG02922.hp1
NA19030.hp1
HG02922.hp1
NA19030.hp1
 intron_variant MODIFIER c.788-443G>A
c.788-443G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 7/8 chrX 1635995
chrX:1635995
G
G
 GC
GC
 1 a0007c0012t0001g0109
a0007c0012t0001g0109
 1 NA18963.hp1
NA18963.hp1
 intron_variant MODIFIER c.788-440dupC
c.788-440dupC
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 7/8 INFO_REALIGN_3_PRIME chrX 1635995
chrX:1636007
G
G
 C
C
 2 a0002c0002t0001g0003
a0002c0002t0001g0130
a0002c0002t0001g0003
a0002c0002t0001g0130
 2 NA18949.hp2
NA19003.hp2
NA18949.hp2
NA19003.hp2
 intron_variant MODIFIER c.788-431G>C
c.788-431G>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 7/8 chrX 1636007
chrX:1636012
A
A
 G
G
 9 a0001c0001t0001g0008
a0001c0001t0001g0016
a0001c0001t0001g0071
others(6): Show 
a0001c0001t0001g0008
a0001c0001t0001g0016
a0001c0001t0001g0071
a0001c0001t0001g0138
a0001c0001t0001g0158
a0001c0001t0001g0211
a0001c0001t0001g0215
a0002c0002t0001g0003
a0002c0002t0001g0130
 9 HG01884.hp1
HG02451.hp1
HG02896.hp1
others(6): Show 
HG01884.hp1
HG02451.hp1
HG02896.hp1
HG02922.hp2
HG03041.hp1
HG03195.hp2
NA18949.hp2
NA19003.hp2
NA20129.hp1
 intron_variant MODIFIER c.788-426A>G
c.788-426A>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 7/8 chrX 1636012
chrX:1636024
C
C
 T
T
 64 a0001c0001t0001g0005
a0001c0001t0001g0008
a0001c0001t0001g0016
others(61): Show 
a0001c0001t0001g0005
a0001c0001t0001g0008
a0001c0001t0001g0016
a0001c0001t0001g0041
a0001c0001t0001g0067
a0001c0001t0001g0071
a0001c0001t0001g0138
a0001c0001t0001g0158
a0001c0001t0001g0211
a0001c0001t0001g0214
a0001c0001t0001g0215
a0001c0001t0002g0143
a0001c0001t0002g0161
a0001c0001t0003g0090
a0001c0003t0001g0023
a0001c0003t0001g0030
a0001c0003t0001g0032
a0001c0003t0001g0033
a0001c0003t0001g0038
a0001c0003t0001g0050
a0001c0003t0001g0051
a0001c0003t0001g0059
a0001c0003t0001g0062
a0001c0003t0001g0070
a0001c0003t0001g0080
a0001c0003t0001g0092
a0001c0003t0001g0093
a0001c0003t0001g0094
a0001c0003t0001g0107
a0001c0003t0001g0113
a0001c0003t0001g0115
a0001c0003t0001g0193
a0001c0003t0001g0219
a0001c0003t0002g0133
a0001c0003t0002g0142
a0001c0003t0002g0150
a0001c0003t0002g0155
a0001c0003t0002g0173
a0001c0003t0002g0177
a0001c0003t0002g0182
a0002c0002t0001g0003
a0002c0002t0001g0052
a0002c0002t0001g0057
a0002c0002t0001g0069
a0002c0002t0001g0078
a0002c0002t0001g0089
a0002c0002t0001g0098
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0124
a0002c0002t0001g0127
a0002c0002t0001g0130
a0002c0002t0001g0208
a0002c0002t0001g0222
a0002c0002t0002g0156
a0002c0002t0002g0188
a0002c0002t0002g0198
a0002c0002t0002g0199
a0002c0002t0002g0217
a0002c0006t0001g0104
a0002c0006t0001g0187
a0003c0009t0001g0011
a0010c0015t0002g0179
a0013c0017t0001g0111
 64 HG00323.hp2
HG00423.hp1
HG00423.hp2
others(61): Show 
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00544.hp2
HG00733.hp1
HG01071.hp2
HG01123.hp2
HG01175.hp1
HG01175.hp2
HG01346.hp1
HG01361.hp1
HG01361.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01934.hp1
HG01975.hp1
HG02109.hp1
HG02155.hp1
HG02293.hp2
HG02451.hp1
HG02523.hp1
HG02622.hp1
HG02818.hp2
HG02896.hp1
HG02922.hp2
HG03041.hp1
HG03195.hp2
HG03486.hp2
HG03491.hp1
HG03669.hp1
HG03669.hp2
HG03927.hp1
HG04184.hp1
HG04184.hp2
NA18939.hp2
NA18941.hp2
NA18947.hp1
NA18949.hp2
NA18950.hp2
NA18956.hp1
NA18963.hp2
NA18968.hp2
NA18969.hp1
NA18973.hp1
NA18977.hp2
NA18980.hp1
NA18980.hp2
NA18985.hp1
NA18986.hp2
NA18992.hp2
NA19003.hp2
NA19010.hp2
NA19011.hp2
NA19030.hp2
NA19057.hp2
NA19062.hp1
NA19065.hp1
NA19065.hp2
NA19072.hp2
NA20129.hp1
 intron_variant MODIFIER c.788-414C>T
c.788-414C>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 7/8 chrX 1636024
chrX:1636030
A
A
 G
G
 14 a0001c0001t0001g0006
a0001c0001t0001g0014
a0001c0001t0001g0017
others(11): Show 
a0001c0001t0001g0006
a0001c0001t0001g0014
a0001c0001t0001g0017
a0001c0001t0001g0019
a0001c0001t0001g0021
a0001c0001t0001g0118
a0001c0001t0001g0121
a0001c0001t0001g0212
a0001c0001t0002g0135
a0001c0001t0002g0184
a0001c0003t0001g0022
a0001c0003t0001g0171
a0002c0002t0001g0074
a0006c0011t0001g0139
 14 HG00741.hp2
HG01891.hp2
HG02109.hp2
others(11): Show 
HG00741.hp2
HG01891.hp2
HG02109.hp2
HG02280.hp2
HG02559.hp2
HG02615.hp2
HG03041.hp2
HG03195.hp1
HG03540.hp1
HG06807.hp1
NA18906.hp1
NA20300.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.788-408A>G
c.788-408A>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 7/8 chrX 1636030
chrX:1636041
C
C
 T
T
 2 a0001c0001t0001g0118
a0006c0011t0001g0139
a0001c0001t0001g0118
a0006c0011t0001g0139
 2 HG02109.hp2
HG02559.hp2
HG02109.hp2
HG02559.hp2
 intron_variant MODIFIER c.788-397C>T
c.788-397C>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 7/8 chrX 1636041
chrX:1636056
T
T
 A
A
 16 a0001c0001t0001g0006
a0001c0001t0001g0014
a0001c0001t0001g0017
others(13): Show 
a0001c0001t0001g0006
a0001c0001t0001g0014
a0001c0001t0001g0017
a0001c0001t0001g0019
a0001c0001t0001g0021
a0001c0001t0001g0118
a0001c0001t0001g0121
a0001c0001t0001g0212
a0001c0001t0001g0214
a0001c0001t0002g0135
a0001c0001t0002g0184
a0001c0001t0002g0190
a0001c0003t0001g0022
a0001c0003t0001g0171
a0002c0002t0001g0074
a0006c0011t0001g0139
 16 HG00741.hp2
HG01891.hp2
HG02109.hp2
others(13): Show 
HG00741.hp2
HG01891.hp2
HG02109.hp2
HG02280.hp2
HG02559.hp2
HG02615.hp2
HG02622.hp1
HG02723.hp2
HG03041.hp2
HG03195.hp1
HG03540.hp1
HG06807.hp1
NA18906.hp1
NA20300.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.788-382T>A
c.788-382T>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 7/8 chrX 1636056
chrX:1636056
T
T
 C
C
 4 a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0002g0168
others(1): Show 
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0002g0168
a0002c0002t0002g0191
 4 HG00639.hp1
HG01070.hp1
HG01071.hp1
others(1): Show 
HG00639.hp1
HG01070.hp1
HG01071.hp1
HG01517.hp2
 intron_variant MODIFIER c.788-382T>C
c.788-382T>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 7/8 chrX 1636056
chrX:1636109
T
T
 C
C
 85 a0001c0001t0001g0006
a0001c0001t0001g0012
a0001c0001t0001g0014
others(82): Show 
a0001c0001t0001g0006
a0001c0001t0001g0012
a0001c0001t0001g0014
a0001c0001t0001g0017
a0001c0001t0001g0019
a0001c0001t0001g0021
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0058
a0001c0001t0001g0061
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0068
a0001c0001t0001g0118
a0001c0001t0001g0121
a0001c0001t0001g0123
a0001c0001t0001g0212
a0001c0001t0002g0039
a0001c0001t0002g0120
a0001c0001t0002g0135
a0001c0001t0002g0144
a0001c0001t0002g0167
a0001c0001t0002g0176
a0001c0001t0002g0184
a0001c0001t0002g0201
a0001c0003t0001g0022
a0001c0003t0001g0171
a0002c0002t0001g0002
a0002c0002t0001g0003
a0002c0002t0001g0015
a0002c0002t0001g0020
a0002c0002t0001g0042
a0002c0002t0001g0044
a0002c0002t0001g0052
a0002c0002t0001g0055
a0002c0002t0001g0057
a0002c0002t0001g0066
a0002c0002t0001g0073
a0002c0002t0001g0074
a0002c0002t0001g0078
a0002c0002t0001g0087
a0002c0002t0001g0089
a0002c0002t0001g0095
a0002c0002t0001g0098
a0002c0002t0001g0108
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0122
a0002c0002t0001g0124
a0002c0002t0001g0125
a0002c0002t0001g0126
a0002c0002t0001g0127
a0002c0002t0001g0129
a0002c0002t0001g0130
a0002c0002t0001g0151
a0002c0002t0001g0175
a0002c0002t0001g0185
a0002c0002t0001g0220
a0002c0002t0001g0221
a0002c0002t0001g0222
a0002c0002t0002g0096
a0002c0002t0002g0112
a0002c0002t0002g0131
a0002c0002t0002g0136
a0002c0002t0002g0146
a0002c0002t0002g0156
a0002c0002t0002g0159
a0002c0002t0002g0160
a0002c0002t0002g0162
a0002c0002t0002g0163
a0002c0002t0002g0166
a0002c0002t0002g0186
a0002c0002t0002g0188
a0002c0002t0002g0198
a0002c0002t0002g0199
a0002c0002t0002g0217
a0002c0010t0001g0010
a0003c0005t0001g0202
a0004c0004t0001g0169
a0005c0016t0001g0045
a0007c0012t0001g0109
a0009c0014t0002g0075
a0011c0008t0001g0034
a0012c0007t0001g0036
a0014c0018t0001g0060
 85 HG00423.hp1
HG00438.hp1
HG00597.hp1
others(82): Show 
HG00423.hp1
HG00438.hp1
HG00597.hp1
HG00733.hp1
HG00733.hp2
HG00741.hp2
HG01070.hp2
HG01081.hp2
HG01123.hp2
HG01168.hp1
HG01175.hp2
HG01256.hp1
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01496.hp1
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01891.hp2
HG01981.hp1
HG02004.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp2
HG02148.hp2
HG02155.hp2
HG02165.hp1
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02523.hp2
HG02615.hp2
HG02622.hp2
HG02683.hp2
HG02809.hp1
HG02896.hp2
HG02922.hp1
HG03041.hp2
HG03195.hp1
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03486.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03669.hp1
HG03831.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG04204.hp2
HG06807.hp1
NA18906.hp1
NA18906.hp2
NA18939.hp2
NA18941.hp1
NA18942.hp1
NA18942.hp2
NA18949.hp2
NA18954.hp2
NA18963.hp1
NA18968.hp1
NA18969.hp2
NA18975.hp1
NA18975.hp2
NA18981.hp2
NA18988.hp1
NA19003.hp1
NA19003.hp2
NA19030.hp1
NA19062.hp1
NA19064.hp1
NA19074.hp1
NA19077.hp1
NA19080.hp2
NA19082.hp1
NA19240.hp2
NA20300.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.788-329T>C
c.788-329T>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 7/8 chrX 1636109
chrX:1636110
C
C
 CCACG
CCACG
 1 a0007c0012t0001g0109
a0007c0012t0001g0109
 1 NA18963.hp1
NA18963.hp1
 intron_variant MODIFIER c.788-328_788-327ins
others(4): Show 
c.788-328_788-327insCACG
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 7/8 chrX 1636110
chrX:1636122
A
A
 AT
AT
 1 a0008c0013t0001g0101
a0008c0013t0001g0101
 1 NA18939.hp1
NA18939.hp1
 intron_variant MODIFIER c.788-308dupT
c.788-308dupT
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 7/8 INFO_REALIGN_3_PRIME chrX 1636122
chrX:1636148
A
A
 G
G
 1 a0007c0012t0001g0109
a0007c0012t0001g0109
 1 NA18963.hp1
NA18963.hp1
 intron_variant MODIFIER c.788-290A>G
c.788-290A>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 7/8 chrX 1636148
chrX:1636200
G
G
 GC
GC
 1 a0007c0012t0001g0109
a0007c0012t0001g0109
 1 NA18963.hp1
NA18963.hp1
 intron_variant MODIFIER c.788-235dupC
c.788-235dupC
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 7/8 INFO_REALIGN_3_PRIME chrX 1636200
chrX:1636204
A
A
 G
G
 1 a0006c0011t0001g0139
a0006c0011t0001g0139
 1 HG02559.hp2
HG02559.hp2
 intron_variant MODIFIER c.788-234A>G
c.788-234A>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 7/8 chrX 1636204
chrX:1636225
A
A
 G
G
 1 a0006c0011t0001g0139
a0006c0011t0001g0139
 1 HG02559.hp2
HG02559.hp2
 intron_variant MODIFIER c.788-213A>G
c.788-213A>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 7/8 chrX 1636225
chrX:1636239
G
G
 C
C
 1 a0001c0003t0001g0059
a0001c0003t0001g0059
 1 NA18968.hp2
NA18968.hp2
 intron_variant MODIFIER c.788-199G>C
c.788-199G>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 7/8 chrX 1636239
chrX:1636247
G
G
 A
A
 8 a0001c0001t0001g0006
a0001c0001t0001g0017
a0001c0001t0001g0019
others(5): Show 
a0001c0001t0001g0006
a0001c0001t0001g0017
a0001c0001t0001g0019
a0001c0001t0001g0021
a0001c0001t0001g0212
a0001c0001t0002g0135
a0001c0001t0002g0184
a0001c0003t0001g0022
 8 HG00741.hp2
HG01891.hp2
HG02280.hp2
others(5): Show 
HG00741.hp2
HG01891.hp2
HG02280.hp2
HG02615.hp2
HG03195.hp1
HG03540.hp1
NA18906.hp1
NA20300.hp1
 intron_variant MODIFIER c.788-191G>A
c.788-191G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 7/8 chrX 1636247
chrX:1636306
G
G
 A
A
 1 a0001c0003t0001g0070
a0001c0003t0001g0070
 1 HG01884.hp2
HG01884.hp2
 intron_variant MODIFIER c.788-132G>A
c.788-132G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 7/8 chrX 1636306
chrX:1636336
G
G
 GA
GA
 1 a0007c0012t0001g0109
a0007c0012t0001g0109
 1 NA18963.hp1
NA18963.hp1
 intron_variant MODIFIER c.788-99dupA
c.788-99dupA
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 7/8 INFO_REALIGN_3_PRIME chrX 1636336
chrX:1636336
GA
GA
 G
G
 1 a0001c0001t0001g0081
a0001c0001t0001g0081
 1 NA18992.hp1
NA18992.hp1
 intron_variant MODIFIER c.788-99delA
c.788-99delA
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 7/8 INFO_REALIGN_3_PRIME chrX 1636336
chrX:1636343
G
G
 A
A
 84 a0001c0001t0001g0006
a0001c0001t0001g0012
a0001c0001t0001g0014
others(81): Show 
a0001c0001t0001g0006
a0001c0001t0001g0012
a0001c0001t0001g0014
a0001c0001t0001g0017
a0001c0001t0001g0019
a0001c0001t0001g0021
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0058
a0001c0001t0001g0061
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0068
a0001c0001t0001g0118
a0001c0001t0001g0121
a0001c0001t0001g0123
a0001c0001t0001g0212
a0001c0001t0002g0039
a0001c0001t0002g0120
a0001c0001t0002g0135
a0001c0001t0002g0167
a0001c0001t0002g0176
a0001c0001t0002g0184
a0001c0001t0002g0201
a0001c0003t0001g0022
a0001c0003t0001g0171
a0002c0002t0001g0002
a0002c0002t0001g0003
a0002c0002t0001g0015
a0002c0002t0001g0020
a0002c0002t0001g0042
a0002c0002t0001g0044
a0002c0002t0001g0052
a0002c0002t0001g0055
a0002c0002t0001g0057
a0002c0002t0001g0066
a0002c0002t0001g0073
a0002c0002t0001g0074
a0002c0002t0001g0078
a0002c0002t0001g0087
a0002c0002t0001g0089
a0002c0002t0001g0095
a0002c0002t0001g0098
a0002c0002t0001g0108
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0122
a0002c0002t0001g0124
a0002c0002t0001g0125
a0002c0002t0001g0126
a0002c0002t0001g0127
a0002c0002t0001g0129
a0002c0002t0001g0130
a0002c0002t0001g0151
a0002c0002t0001g0175
a0002c0002t0001g0185
a0002c0002t0001g0220
a0002c0002t0001g0221
a0002c0002t0001g0222
a0002c0002t0002g0096
a0002c0002t0002g0112
a0002c0002t0002g0131
a0002c0002t0002g0136
a0002c0002t0002g0146
a0002c0002t0002g0156
a0002c0002t0002g0159
a0002c0002t0002g0160
a0002c0002t0002g0162
a0002c0002t0002g0163
a0002c0002t0002g0166
a0002c0002t0002g0186
a0002c0002t0002g0198
a0002c0002t0002g0199
a0002c0002t0002g0217
a0002c0010t0001g0010
a0003c0005t0001g0202
a0004c0004t0001g0169
a0004c0004t0004g0148
a0005c0016t0001g0045
a0007c0012t0001g0109
a0009c0014t0002g0075
a0011c0008t0001g0034
a0012c0007t0001g0036
a0014c0018t0001g0060
 84 HG00423.hp1
HG00438.hp1
HG00597.hp1
others(81): Show 
HG00423.hp1
HG00438.hp1
HG00597.hp1
HG00733.hp1
HG00733.hp2
HG00741.hp2
HG01070.hp2
HG01081.hp2
HG01123.hp2
HG01168.hp1
HG01175.hp2
HG01256.hp1
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01496.hp1
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01891.hp2
HG01981.hp1
HG02004.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp2
HG02148.hp2
HG02155.hp2
HG02165.hp1
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02523.hp2
HG02615.hp2
HG02622.hp2
HG02683.hp2
HG02809.hp1
HG02896.hp2
HG02922.hp1
HG03041.hp2
HG03195.hp1
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03486.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG04204.hp2
HG06807.hp1
NA18906.hp1
NA18939.hp2
NA18941.hp1
NA18942.hp1
NA18942.hp2
NA18949.hp2
NA18954.hp2
NA18963.hp1
NA18968.hp1
NA18969.hp2
NA18975.hp1
NA18975.hp2
NA18981.hp2
NA18988.hp1
NA19003.hp1
NA19003.hp2
NA19030.hp1
NA19062.hp1
NA19064.hp1
NA19074.hp1
NA19077.hp1
NA19080.hp2
NA19082.hp1
NA19240.hp2
NA20300.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.788-95G>A
c.788-95G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 7/8 chrX 1636343
chrX:1636410
A
A
 ACCTCGTG
ACCTCGTG
 1 a0010c0015t0002g0179
a0010c0015t0002g0179
 1 NA19072.hp2
NA19072.hp2
 intron_variant MODIFIER c.788-23_788-22insTG
others(5): Show 
c.788-23_788-22insTGCCTCG
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 7/8 INFO_REALIGN_3_PRIME chrX 1636410
chrX:1636567
TG
TG
 T
T
 26 a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0043
others(23): Show 
a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0043
a0001c0001t0001g0046
a0001c0001t0001g0067
a0001c0001t0001g0077
a0001c0001t0001g0079
a0001c0001t0001g0081
a0001c0001t0001g0123
a0001c0001t0001g0174
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0209
a0001c0001t0002g0134
a0001c0001t0002g0143
a0001c0001t0002g0145
a0002c0002t0001g0009
a0002c0002t0001g0026
a0002c0002t0001g0054
a0002c0002t0001g0119
a0002c0002t0001g0189
a0002c0002t0001g0210
a0002c0002t0002g0154
a0002c0002t0002g0178
a0002c0002t0002g0183
a0002c0002t0002g0188
 27 HG00323.hp2
HG00639.hp2
HG01071.hp2
others(24): Show 
HG00323.hp2
HG00639.hp2
HG01071.hp2
HG01168.hp2
HG01978.hp2
HG02273.hp2
HG02451.hp2
HG02559.hp1
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02976.hp1
HG02976.hp2
HG03669.hp1
HG06807.hp2
NA18955.hp1
NA18974.hp1
NA18992.hp1
NA18998.hp2
NA19081.hp1
NA19240.hp1
NA20129.hp2
 splice_region_variant&intron_variant LOW c.910+8delG
c.910+8delG
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1636567
chrX:1636601
C
C
 T
T
 4 a0001c0001t0001g0001
a0001c0001t0001g0203
a0001c0001t0001g0204
others(1): Show 
a0001c0001t0001g0001
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0209
 5 HG02451.hp2
HG02559.hp1
HG02630.hp1
others(2): Show 
HG02451.hp2
HG02559.hp1
HG02630.hp1
HG02809.hp2
NA19240.hp1
 intron_variant MODIFIER c.910+41C>T
c.910+41C>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1636601
chrX:1636651
C
C
 G
G
 1 a0001c0001t0002g0120
a0001c0001t0002g0120
 1 HG03927.hp2
HG03927.hp2
 intron_variant MODIFIER c.910+91C>G
c.910+91C>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1636651
chrX:1636715
T
T
 TG
TG
 1 a0010c0015t0002g0179
a0010c0015t0002g0179
 1 NA19072.hp2
NA19072.hp2
 intron_variant MODIFIER c.910+155_910+156ins
others(1): Show 
c.910+155_910+156insG
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1636715
chrX:1636773
C
C
 T
T
 130 a0001c0001t0001g0001
a0001c0001t0001g0005
a0001c0001t0001g0007
others(127): Show 
a0001c0001t0001g0001
a0001c0001t0001g0005
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0012
a0001c0001t0001g0014
a0001c0001t0001g0016
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0058
a0001c0001t0001g0061
a0001c0001t0001g0063
a0001c0001t0001g0065
a0001c0001t0001g0068
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0077
a0001c0001t0001g0079
a0001c0001t0001g0084
a0001c0001t0001g0086
a0001c0001t0001g0097
a0001c0001t0001g0100
a0001c0001t0001g0102
a0001c0001t0001g0103
a0001c0001t0001g0105
a0001c0001t0001g0106
a0001c0001t0001g0110
a0001c0001t0001g0114
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0158
a0001c0001t0001g0174
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0209
a0001c0001t0001g0211
a0001c0001t0001g0214
a0001c0001t0001g0215
a0001c0001t0002g0039
a0001c0001t0002g0120
a0001c0001t0002g0132
a0001c0001t0002g0144
a0001c0001t0002g0145
a0001c0001t0002g0147
a0001c0001t0002g0152
a0001c0001t0002g0161
a0001c0001t0002g0164
a0001c0001t0002g0167
a0001c0001t0002g0170
a0001c0001t0002g0176
a0001c0001t0002g0201
a0001c0001t0003g0090
a0001c0003t0001g0032
a0001c0003t0001g0033
a0001c0003t0001g0092
a0001c0003t0001g0115
a0001c0003t0001g0171
a0001c0003t0001g0193
a0001c0003t0001g0219
a0001c0003t0002g0150
a0001c0003t0002g0173
a0001c0003t0002g0182
a0002c0002t0001g0003
a0002c0002t0001g0015
a0002c0002t0001g0018
a0002c0002t0001g0042
a0002c0002t0001g0044
a0002c0002t0001g0052
a0002c0002t0001g0055
a0002c0002t0001g0057
a0002c0002t0001g0066
a0002c0002t0001g0073
a0002c0002t0001g0078
a0002c0002t0001g0085
a0002c0002t0001g0087
a0002c0002t0001g0089
a0002c0002t0001g0095
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0122
a0002c0002t0001g0124
a0002c0002t0001g0125
a0002c0002t0001g0126
a0002c0002t0001g0127
a0002c0002t0001g0129
a0002c0002t0001g0130
a0002c0002t0001g0151
a0002c0002t0001g0175
a0002c0002t0001g0185
a0002c0002t0001g0220
a0002c0002t0001g0221
a0002c0002t0001g0222
a0002c0002t0002g0096
a0002c0002t0002g0112
a0002c0002t0002g0131
a0002c0002t0002g0136
a0002c0002t0002g0146
a0002c0002t0002g0156
a0002c0002t0002g0159
a0002c0002t0002g0162
a0002c0002t0002g0163
a0002c0002t0002g0166
a0002c0002t0002g0172
a0002c0002t0002g0191
a0002c0002t0002g0198
a0002c0002t0002g0199
a0002c0002t0002g0207
a0002c0002t0002g0213
a0002c0002t0002g0217
a0002c0010t0001g0010
a0003c0005t0001g0004
a0003c0005t0001g0202
a0004c0004t0001g0169
a0004c0004t0004g0148
a0005c0016t0001g0045
a0006c0011t0001g0139
a0008c0013t0001g0101
a0009c0014t0002g0075
a0011c0008t0001g0034
a0012c0007t0001g0036
a0014c0018t0001g0060
 131 HG00423.hp1
HG00423.hp2
HG00438.hp1
others(128): Show 
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00544.hp1
HG00597.hp1
HG00733.hp1
HG00733.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01081.hp2
HG01123.hp2
HG01168.hp1
HG01175.hp2
HG01256.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01496.hp1
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01981.hp1
HG02004.hp2
HG02080.hp1
HG02080.hp2
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02683.hp1
HG02683.hp2
HG02723.hp1
HG02809.hp2
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02976.hp2
HG03041.hp1
HG03195.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp2
HG03486.hp1
HG03516.hp1
HG03540.hp2
HG03704.hp1
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG04204.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18947.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18956.hp2
NA18969.hp1
NA18969.hp2
NA18973.hp1
NA18973.hp2
NA18975.hp1
NA18975.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18985.hp1
NA18988.hp1
NA18992.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp2
NA19002.hp1
NA19003.hp1
NA19003.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19057.hp1
NA19057.hp2
NA19062.hp1
NA19064.hp1
NA19064.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA19080.hp1
NA19081.hp1
NA19081.hp2
NA19082.hp1
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp2
NA21309.hp2
 intron_variant MODIFIER c.910+213C>T
c.910+213C>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1636773
chrX:1636831
TTG
TTG
 T
T
 1 a0010c0015t0002g0179
a0010c0015t0002g0179
 1 NA19072.hp2
NA19072.hp2
 intron_variant MODIFIER c.910+280_910+281del
others(2): Show 
c.910+280_910+281delTG
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 INFO_REALIGN_3_PRIME chrX 1636831
chrX:1636875
A
A
 AC
AC
 1 a0010c0015t0002g0179
a0010c0015t0002g0179
 1 NA19072.hp2
NA19072.hp2
 intron_variant MODIFIER c.910+318dupC
c.910+318dupC
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 INFO_REALIGN_3_PRIME chrX 1636875
chrX:1636879
ATCCTGAT
others(480): Show 
ATCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGATGGGGA
CAGTGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGGCACATGAGG
ATGTGGGCACAGCCTCTGTGTGTGATGGGGACAGTGTCCCAGCTCTCCTG
TGAGGTCCATCCATCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGT
GTGTGAGATAAGGACTGTGTCCCAGCTCTCCTGTGAGGTCCACCCATCCT
GATGCTTCACGAGGACGTGGGCACAGCCTCTGTGTATGATGGGGACAGTG
TCCCAGTGTCCTGTGAGGTCCATCCATCCTGATGGCACATGAGGATGTGG
ACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGA
TCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTATG
ATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCC
 A
A
 8 a0001c0001t0001g0008
a0001c0001t0001g0016
a0001c0001t0001g0071
others(5): Show 
a0001c0001t0001g0008
a0001c0001t0001g0016
a0001c0001t0001g0071
a0001c0001t0001g0118
a0001c0001t0001g0138
a0001c0001t0001g0211
a0001c0001t0002g0144
a0001c0001t0002g0190
 8 HG02109.hp2
HG02451.hp1
HG02723.hp2
others(5): Show 
HG02109.hp2
HG02451.hp1
HG02723.hp2
HG02896.hp1
HG02922.hp2
HG03041.hp1
NA18906.hp2
NA20129.hp1
 intron_variant MODIFIER c.910+328_910+814del
c.910+328_910+814del
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 INFO_REALIGN_3_PRIME chrX 1636879
chrX:1636890
TCATGAGG
others(74): Show 
TCATGAGGATGTGGGCACAGCCTCTGTGTGTGATGGGGACAGTGTCCCAG
CTCTCCTGTGAGGTCCATCCATCCTGATGGCA
 T
T
 13 a0001c0001t0001g0006
a0001c0001t0002g0135
a0001c0001t0002g0195
others(10): Show 
a0001c0001t0001g0006
a0001c0001t0002g0135
a0001c0001t0002g0195
a0001c0001t0003g0090
a0001c0003t0001g0022
a0001c0003t0001g0171
a0002c0002t0001g0009
a0002c0002t0001g0015
a0002c0002t0001g0074
a0002c0002t0002g0183
a0002c0002t0002g0199
a0002c0002t0002g0216
a0004c0004t0004g0148
 13 HG01516.hp2
HG02615.hp2
HG02818.hp2
others(10): Show 
HG01516.hp2
HG02615.hp2
HG02818.hp2
HG02886.hp1
HG02896.hp2
HG03540.hp1
HG03704.hp2
HG03831.hp2
NA18906.hp1
NA20129.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.910+444_910+524del
others(81): Show 
c.910+444_910+524delTGGGGACAGTGTCCCAGCTCTCCTGTGAGG
TCCATCCATCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTG
A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 INFO_REALIGN_3_PRIME chrX 1636890
chrX:1636890
TCATGAGG
others(1634): Show 
TCATGAGGATGTGGGCACAGCCTCTGTGTGTGATGGGGACAGTGTCCCAG
CTCTCCTGTGAGGTCCATCCATCCTGATGGCACATGAGGATGTGGGCACA
GCCTCTGTGTGTGATGGGGACAGTGTCCCAGCTCTCCTGTGAGGTCCATC
CATCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAA
GGACTGTGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGCTTCACG
AGGACGTGGGCACAGCCTCTGTGTATGATGGGGACAGTGTCCCAGTGTCC
TGTGAGGTCCATCCATCCTGATGGCACATGAGGATGTGGACACAGCCTCT
GTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCC
TGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTATGATGGGGACAGT
GTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGCTTCACGAGGACGTG
GGCACAGCCTCTGTGTATGATGGGGACAGTGTCCCAGTGTCCTGTGAGGT
CCACCCATCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTGA
GATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGAT
CCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCC
AGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCAC
AGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCC
ATCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGA
TGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCA
TGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGC
TCTCCTGTGAGGTCCATCCATCCTGATGGCACATGAGGATGTGGGCACAG
CCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCAT
CCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATG
GGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATG
AGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTC
TCCTGTGAGGTCCATCCATCCTGATGGCACATGAGGATGTGGGCACAGCC
TCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCC
ATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGG
GACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAG
GATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTC
CTGTGAGGTCCATCCATCCTGATGATCCATGAGGATGTGGACACAGCCTC
TGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTC
CTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGAC
CATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGGCA
 T
T
 2 a0001c0001t0001g0040
a0001c0001t0001g0128
a0001c0001t0001g0040
a0001c0001t0001g0128
 2 HG00099.hp1
HG01975.hp2
HG00099.hp1
HG01975.hp2
 intron_variant MODIFIER c.910+363_910+2003de
others(1): Show 
c.910+363_910+2003del
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 INFO_REALIGN_3_PRIME chrX 1636890
chrX:1636899
T
T
 C
C
 1 a0001c0003t0002g0177
a0001c0003t0002g0177
 1 HG01934.hp1
HG01934.hp1
 intron_variant MODIFIER c.910+339T>C
c.910+339T>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1636899
chrX:1636904
G
G
 A
A
 1 a0001c0001t0001g0215
a0001c0001t0001g0215
 1 HG01884.hp1
HG01884.hp1
 intron_variant MODIFIER c.910+344G>A
c.910+344G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1636904
chrX:1636910
CCTCTGTG
others(3447): Show 
CCTCTGTGTGTGATGGGGACAGTGTCCCAGCTCTCCTGTGAGGTCCATCC
ATCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTGATGGGGA
CAGTGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGGCACATGAGG
ATGTGGGCACAGCCTCTGTGTGTGAGATAAGGACTGTGTCCCAGCTCTCC
TGTGAGGTCCACCCATCCTGATGCTTCACGAGGACGTGGGCACAGCCTCT
GTGTATGATGGGGACAGTGTCCCAGTGTCCTGTGAGGTCCATCCATCCTG
ATGGCACATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGT
GTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTG
GGCACAGCCTCTGTGTATGATGGGGACAGTGTCCCAGTGTCCTGTGAGAT
CCATCCCTCCTGATGCTTCACGAGGACGTGGGCACAGCCTCTGTGTATGA
TGGGGACAGTGTCCCAGTGTCCTGTGAGGTCCACCCATCCTGATGGCACA
TGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGC
TCTCCTGTGAGGTCCATCCATCCTGATGATCCATGAGGATGTGGACACAG
CCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATC
CCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAG
GGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGATCCATG
AGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGT
CCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCT
CTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCA
TCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGG
ACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGATCCATGAG
GATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCC
TGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCT
GTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATC
CTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGAC
CATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGATCCATGAGGA
TGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTG
TGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGT
GTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCT
GATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAG
TGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGT
GGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTG
AGGTCCATCCATCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGT
GTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGA
TGCTTCACGAGGACGTGGGCACAGCCTCTGTGTATGATGGGGACAGTGTC
CCAGTGTCCTGTGAGGTCCATCCATCCTGATGGCACATGAGGATGTGGAC
ACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATC
CATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAG
ATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATC
CATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCA
GTGTCCTGTGAGATCCATCCATCCTGATGGCACATGAGGATGTGGGCACA
GCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCA
TCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGAT
GGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCAT
GAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCT
CTCCTGTGAGGTCCACCCATCCTGATGATCCATGAGGATGTGGACACAGC
CTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCC
ATCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGG
GACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGGCACATGA
GGATGTGGGCACAGCCTCTGTGTGTGAGATAAGGACTGTGTCCCAGCTCT
CCTGTGAGGTCCACCCATCCTGATGCTTCACGAGGACGTGGGCACAGCCT
CTGTGTATGATGGGGACAGTGTCCCAGTGTCCTGTGAGGTCCATCCATCC
TGATGGCACATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACA
GTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATG
TGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGT
GAGGTCCACCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTG
TGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCATCCTGA
TGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATG
TCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGATCCATGAGGATGTG
GACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAG
ATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGT
GAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATG
ATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTC
CCAGTGTCCTGTGAGATCCATCCATCCTGATGGCACATGAGGATGTGGGC
ACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGT
CCACCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGT
GATGGGGACAGTGTCCCAGTGTCCTGTGAGGTCCATCCCTCCTGATGGTT
CATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCA
GCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATGAGGATGTGGACAC
AGCCT
 C
C
 1 a0001c0003t0001g0080
a0001c0003t0001g0080
 1 NA19065.hp1
NA19065.hp1
 intron_variant MODIFIER c.910+353_911-2437de
others(1): Show 
c.910+353_911-2437del
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 INFO_REALIGN_3_PRIME chrX 1636910
chrX:1636913
C
C
 G
G
 40 a0001c0001t0001g0005
a0001c0001t0001g0028
a0001c0001t0001g0029
others(37): Show 
a0001c0001t0001g0005
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0043
a0001c0001t0001g0067
a0001c0001t0001g0082
a0001c0001t0001g0100
a0001c0001t0001g0102
a0001c0001t0001g0103
a0001c0001t0001g0121
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0212
a0001c0001t0002g0143
a0001c0001t0002g0184
a0001c0001t0002g0200
a0001c0003t0001g0013
a0001c0003t0001g0038
a0001c0003t0001g0050
a0001c0003t0001g0051
a0001c0003t0001g0059
a0001c0003t0001g0062
a0001c0003t0001g0070
a0001c0003t0001g0091
a0001c0003t0001g0093
a0001c0003t0001g0094
a0001c0003t0001g0107
a0001c0003t0002g0133
a0001c0003t0002g0149
a0001c0003t0002g0155
a0002c0002t0001g0055
a0002c0002t0001g0099
a0002c0002t0001g0119
a0002c0002t0001g0126
a0002c0006t0001g0104
a0002c0006t0001g0187
a0003c0009t0001g0011
a0007c0012t0001g0109
a0008c0013t0001g0101
a0010c0015t0002g0179
 40 HG00323.hp2
HG00438.hp2
HG00544.hp2
others(37): Show 
HG00323.hp2
HG00438.hp2
HG00544.hp2
HG00597.hp2
HG01071.hp2
HG01168.hp2
HG01257.hp2
HG01884.hp2
HG01891.hp2
HG01975.hp1
HG01993.hp2
HG02155.hp1
HG02280.hp2
HG02976.hp2
HG03041.hp2
HG03239.hp2
HG03486.hp2
HG03669.hp2
HG04184.hp1
HG04184.hp2
NA18939.hp1
NA18942.hp1
NA18951.hp2
NA18956.hp2
NA18963.hp1
NA18963.hp2
NA18968.hp2
NA18977.hp2
NA18980.hp2
NA18986.hp2
NA18999.hp1
NA19002.hp1
NA19002.hp2
NA19010.hp1
NA19030.hp2
NA19065.hp2
NA19072.hp2
NA19074.hp2
NA19077.hp2
NA19085.hp1
 intron_variant MODIFIER c.910+353C>G
c.910+353C>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1636913
chrX:1636913
CTGTGTGT
others(3940): Show 
CTGTGTGTGATGGGGACAGTGTCCCAGCTCTCCTGTGAGGTCCATCCATC
CTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTGATGGGGACAG
TGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGGCACATGAGGATG
TGGGCACAGCCTCTGTGTGTGAGATAAGGACTGTGTCCCAGCTCTCCTGT
GAGGTCCACCCATCCTGATGCTTCACGAGGACGTGGGCACAGCCTCTGTG
TATGATGGGGACAGTGTCCCAGTGTCCTGTGAGGTCCATCCATCCTGATG
GCACATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTC
CCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGC
ACAGCCTCTGTGTATGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCA
TCCCTCCTGATGCTTCACGAGGACGTGGGCACAGCCTCTGTGTATGATGG
GGACAGTGTCCCAGTGTCCTGTGAGGTCCACCCATCCTGATGGCACATGA
GGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCT
CCTGTGAGGTCCATCCATCCTGATGATCCATGAGGATGTGGACACAGCCT
CTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCT
CCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGA
CCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGATCCATGAGG
ATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCT
GTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTG
TGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCC
TGATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACC
ATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGATCCATGAGGAT
GTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGT
GAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTG
TGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTG
ATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCAT
GTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGATCCATGAGGATGT
GGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGA
GATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTG
TGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGAT
GATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGT
CCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGG
CACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGG
TCCATCCATCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTG
AGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGC
TTCACGAGGACGTGGGCACAGCCTCTGTGTATGATGGGGACAGTGTCCCA
GTGTCCTGTGAGGTCCATCCATCCTGATGGCACATGAGGATGTGGACACA
GCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCAT
CCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATA
GGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCAT
GAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTG
TCCTGTGAGATCCATCCATCCTGATGGCACATGAGGATGTGGGCACAGCC
TCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCC
ATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGG
GACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAG
GATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTC
CTGTGAGGTCCACCCATCCTGATGATCCATGAGGATGTGGACACAGCCTC
TGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCATC
CTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGAC
CATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGGCACATGAGGA
TGTGGGCACAGCCTCTGTGTGTGAGATAAGGACTGTGTCCCAGCTCTCCT
GTGAGGTCCACCCATCCTGATGCTTCACGAGGACGTGGGCACAGCCTCTG
TGTATGATGGGGACAGTGTCCCAGTGTCCTGTGAGGTCCATCCATCCTGA
TGGCACATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTG
TCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGG
GCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAG
GTCCACCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGT
GTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCATCCTGATGG
CACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCC
CAGCTCTCCTGTGAGGTCCATCCATCCTGATGATCCATGAGGATGTGGAC
ACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATC
CATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAG
ATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATC
CATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCA
GTGTCCTGTGAGATCCATCCATCCTGATGGCACATGAGGATGTGGGCACA
GCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCA
CCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGAT
GGGGACAGTGTCCCAGTGTCCTGTGAGGTCCATCCCTCCTGATGGTTCAT
GAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCT
CTCCTGTGAGGTCCACCCATCCTGATGATCCATGAGGATGTGGACACAGC
CTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCC
CTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGG
GACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGCTTCATGA
GGACGTGGGCACAGCCTCTGTGTATGATGGGGACAGTGTCCCAGTGTCCT
GTGAGATCCATCCATCCTGATGGCACATGAGGATGTGGGCACAGCCTCTG
TGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCC
TGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACA
GTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATG
TGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGT
GAGGTCCACCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTG
 C
C
 5 a0001c0001t0001g0007
a0001c0001t0002g0161
a0002c0002t0001g0044
others(2): Show 
a0001c0001t0001g0007
a0001c0001t0002g0161
a0002c0002t0001g0044
a0002c0002t0001g0069
a0002c0002t0001g0208
 5 HG01256.hp1
HG01891.hp1
HG02109.hp1
others(2): Show 
HG01256.hp1
HG01891.hp1
HG02109.hp1
HG02630.hp2
NA19057.hp2
 intron_variant MODIFIER c.910+380_911-1917de
others(1): Show 
c.910+380_911-1917del
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 INFO_REALIGN_3_PRIME chrX 1636913
chrX:1636913
CTGTGTGT
others(4270): Show 
CTGTGTGTGATGGGGACAGTGTCCCAGCTCTCCTGTGAGGTCCATCCATC
CTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTGATGGGGACAG
TGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGGCACATGAGGATG
TGGGCACAGCCTCTGTGTGTGAGATAAGGACTGTGTCCCAGCTCTCCTGT
GAGGTCCACCCATCCTGATGCTTCACGAGGACGTGGGCACAGCCTCTGTG
TATGATGGGGACAGTGTCCCAGTGTCCTGTGAGGTCCATCCATCCTGATG
GCACATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTC
CCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGC
ACAGCCTCTGTGTATGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCA
TCCCTCCTGATGCTTCACGAGGACGTGGGCACAGCCTCTGTGTATGATGG
GGACAGTGTCCCAGTGTCCTGTGAGGTCCACCCATCCTGATGGCACATGA
GGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCT
CCTGTGAGGTCCATCCATCCTGATGATCCATGAGGATGTGGACACAGCCT
CTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCT
CCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGA
CCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGATCCATGAGG
ATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCT
GTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTG
TGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCC
TGATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACC
ATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGATCCATGAGGAT
GTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGT
GAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTG
TGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTG
ATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCAT
GTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGATCCATGAGGATGT
GGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGA
GATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTG
TGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGAT
GATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGT
CCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGG
CACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGG
TCCATCCATCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTG
AGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGC
TTCACGAGGACGTGGGCACAGCCTCTGTGTATGATGGGGACAGTGTCCCA
GTGTCCTGTGAGGTCCATCCATCCTGATGGCACATGAGGATGTGGACACA
GCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCAT
CCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATA
GGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCAT
GAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTG
TCCTGTGAGATCCATCCATCCTGATGGCACATGAGGATGTGGGCACAGCC
TCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCC
ATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGG
GACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAG
GATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTC
CTGTGAGGTCCACCCATCCTGATGATCCATGAGGATGTGGACACAGCCTC
TGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCATC
CTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGAC
CATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGGCACATGAGGA
TGTGGGCACAGCCTCTGTGTGTGAGATAAGGACTGTGTCCCAGCTCTCCT
GTGAGGTCCACCCATCCTGATGCTTCACGAGGACGTGGGCACAGCCTCTG
TGTATGATGGGGACAGTGTCCCAGTGTCCTGTGAGGTCCATCCATCCTGA
TGGCACATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTG
TCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGG
GCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAG
GTCCACCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGT
GTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCATCCTGATGG
CACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCC
CAGCTCTCCTGTGAGGTCCATCCATCCTGATGATCCATGAGGATGTGGAC
ACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATC
CATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAG
ATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATC
CATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCA
GTGTCCTGTGAGATCCATCCATCCTGATGGCACATGAGGATGTGGGCACA
GCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCA
CCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGAT
GGGGACAGTGTCCCAGTGTCCTGTGAGGTCCATCCCTCCTGATGGTTCAT
GAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCT
CTCCTGTGAGGTCCACCCATCCTGATGATCCATGAGGATGTGGACACAGC
CTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCC
CTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGG
GACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGCTTCATGA
GGACGTGGGCACAGCCTCTGTGTATGATGGGGACAGTGTCCCAGTGTCCT
GTGAGATCCATCCATCCTGATGGCACATGAGGATGTGGGCACAGCCTCTG
TGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCC
TGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACA
GTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATG
TGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGT
GAGGTCCACCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTG
TGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCATCCTGA
TGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATG
TCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATGAGGATGTG
GACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAG
GTCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGT
GAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATG
ATCCATGAGGATGTGGACACAGCCTCTG
 C
C
 2 a0002c0002t0001g0078
a0002c0002t0001g0088
a0002c0002t0001g0078
a0002c0002t0001g0088
 2 HG01081.hp1
HG03927.hp1
HG01081.hp1
HG03927.hp1
 intron_variant MODIFIER c.910+380_911-1587de
others(1): Show 
c.910+380_911-1587del
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 INFO_REALIGN_3_PRIME chrX 1636913
chrX:1636919
G
G
 A
A
 56 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0041
others(53): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0041
a0001c0001t0001g0049
a0001c0001t0001g0058
a0001c0001t0001g0061
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0068
a0001c0001t0001g0072
a0001c0001t0001g0077
a0001c0001t0001g0110
a0001c0001t0001g0114
a0001c0001t0001g0205
a0001c0001t0002g0039
a0001c0001t0002g0120
a0001c0001t0002g0152
a0001c0001t0002g0164
a0001c0001t0002g0167
a0001c0001t0002g0176
a0001c0001t0002g0201
a0001c0003t0001g0030
a0001c0003t0001g0032
a0001c0003t0001g0033
a0001c0003t0001g0092
a0001c0003t0001g0113
a0001c0003t0001g0115
a0001c0003t0001g0193
a0001c0003t0001g0219
a0001c0003t0002g0173
a0001c0003t0002g0177
a0001c0003t0002g0182
a0002c0002t0001g0018
a0002c0002t0001g0042
a0002c0002t0001g0066
a0002c0002t0001g0085
a0002c0002t0001g0095
a0002c0002t0001g0125
a0002c0002t0001g0129
a0002c0002t0001g0151
a0002c0002t0001g0185
a0002c0002t0001g0220
a0002c0002t0002g0096
a0002c0002t0002g0112
a0002c0002t0002g0131
a0002c0002t0002g0146
a0002c0002t0002g0156
a0002c0002t0002g0162
a0002c0002t0002g0163
a0002c0002t0002g0166
a0002c0002t0002g0207
a0002c0002t0002g0213
a0003c0005t0001g0004
a0004c0004t0001g0169
a0012c0007t0001g0036
a0014c0018t0001g0060
 56 HG00423.hp1
HG00423.hp2
HG00438.hp1
others(53): Show 
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00544.hp1
HG00597.hp1
HG00733.hp2
HG01081.hp2
HG01346.hp2
HG01496.hp1
HG01934.hp1
HG01981.hp1
HG02004.hp2
HG02080.hp1
HG02080.hp2
HG02148.hp2
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02602.hp2
HG02723.hp1
HG03239.hp1
HG03453.hp2
HG03704.hp1
HG03831.hp1
HG03834.hp1
HG03834.hp2
HG03927.hp2
HG04204.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp2
NA18947.hp1
NA18947.hp2
NA18950.hp2
NA18954.hp2
NA18956.hp1
NA18969.hp1
NA18969.hp2
NA18973.hp1
NA18975.hp1
NA18975.hp2
NA18980.hp1
NA18981.hp1
NA18981.hp2
NA18985.hp1
NA18988.hp1
NA18992.hp2
NA18999.hp2
NA19011.hp2
NA19064.hp1
NA19074.hp1
NA19077.hp1
NA19080.hp1
NA19081.hp1
NA19082.hp1
NA20300.hp2
 intron_variant MODIFIER c.910+359G>A
c.910+359G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1636919
chrX:1636921
GATGGGGA
others(478): Show 
GATGGGGACAGTGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGGC
ACATGAGGATGTGGGCACAGCCTCTGTGTGTGATGGGGACAGTGTCCCAG
CTCTCCTGTGAGGTCCATCCATCCTGATGGCACATGAGGATGTGGGCACA
GCCTCTGTGTGTGAGATAAGGACTGTGTCCCAGCTCTCCTGTGAGGTCCA
CCCATCCTGATGCTTCACGAGGACGTGGGCACAGCCTCTGTGTATGATGG
GGACAGTGTCCCAGTGTCCTGTGAGGTCCATCCATCCTGATGGCACATGA
GGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTC
CTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTC
TGTGTATGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCT
GATGCTTCACGAGGACGTGGGCACAGCCTCTGTGTA
 G
G
 1 a0001c0001t0001g0215
a0001c0001t0001g0215
 1 HG01884.hp1
HG01884.hp1
 intron_variant MODIFIER c.910+362_910+846del
c.910+362_910+846del
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1636921
chrX:1636923
T
T
 TG
TG
 1 a0010c0015t0002g0179
a0010c0015t0002g0179
 1 NA19072.hp2
NA19072.hp2
 intron_variant MODIFIER c.910+367dupG
c.910+367dupG
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 INFO_REALIGN_3_PRIME chrX 1636923
chrX:1636924
G
G
 A
A
 56 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0041
others(53): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0041
a0001c0001t0001g0049
a0001c0001t0001g0058
a0001c0001t0001g0061
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0068
a0001c0001t0001g0072
a0001c0001t0001g0077
a0001c0001t0001g0110
a0001c0001t0001g0114
a0001c0001t0001g0205
a0001c0001t0002g0039
a0001c0001t0002g0120
a0001c0001t0002g0152
a0001c0001t0002g0164
a0001c0001t0002g0167
a0001c0001t0002g0176
a0001c0001t0002g0201
a0001c0003t0001g0030
a0001c0003t0001g0032
a0001c0003t0001g0033
a0001c0003t0001g0092
a0001c0003t0001g0113
a0001c0003t0001g0115
a0001c0003t0001g0193
a0001c0003t0001g0219
a0001c0003t0002g0173
a0001c0003t0002g0177
a0001c0003t0002g0182
a0002c0002t0001g0018
a0002c0002t0001g0042
a0002c0002t0001g0066
a0002c0002t0001g0085
a0002c0002t0001g0095
a0002c0002t0001g0125
a0002c0002t0001g0129
a0002c0002t0001g0151
a0002c0002t0001g0185
a0002c0002t0001g0220
a0002c0002t0002g0096
a0002c0002t0002g0112
a0002c0002t0002g0131
a0002c0002t0002g0146
a0002c0002t0002g0156
a0002c0002t0002g0162
a0002c0002t0002g0163
a0002c0002t0002g0166
a0002c0002t0002g0207
a0002c0002t0002g0213
a0003c0005t0001g0004
a0004c0004t0001g0169
a0012c0007t0001g0036
a0014c0018t0001g0060
 56 HG00423.hp1
HG00423.hp2
HG00438.hp1
others(53): Show 
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00544.hp1
HG00597.hp1
HG00733.hp2
HG01081.hp2
HG01346.hp2
HG01496.hp1
HG01934.hp1
HG01981.hp1
HG02004.hp2
HG02080.hp1
HG02080.hp2
HG02148.hp2
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02602.hp2
HG02723.hp1
HG03239.hp1
HG03453.hp2
HG03704.hp1
HG03831.hp1
HG03834.hp1
HG03834.hp2
HG03927.hp2
HG04204.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp2
NA18947.hp1
NA18947.hp2
NA18950.hp2
NA18954.hp2
NA18956.hp1
NA18969.hp1
NA18969.hp2
NA18973.hp1
NA18975.hp1
NA18975.hp2
NA18980.hp1
NA18981.hp1
NA18981.hp2
NA18985.hp1
NA18988.hp1
NA18992.hp2
NA18999.hp2
NA19011.hp2
NA19064.hp1
NA19074.hp1
NA19077.hp1
NA19080.hp1
NA19081.hp1
NA19082.hp1
NA20300.hp2
 intron_variant MODIFIER c.910+364G>A
c.910+364G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1636924
chrX:1636924
GGGGACAG
others(2376): Show 
GGGGACAGTGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGGCACA
TGAGGATGTGGGCACAGCCTCTGTGTGTGATGGGGACAGTGTCCCAGCTC
TCCTGTGAGGTCCATCCATCCTGATGGCACATGAGGATGTGGGCACAGCC
TCTGTGTGTGAGATAAGGACTGTGTCCCAGCTCTCCTGTGAGGTCCACCC
ATCCTGATGCTTCACGAGGACGTGGGCACAGCCTCTGTGTATGATGGGGA
CAGTGTCCCAGTGTCCTGTGAGGTCCATCCATCCTGATGGCACATGAGGA
TGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTG
TGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGT
GTATGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGAT
GCTTCACGAGGACGTGGGCACAGCCTCTGTGTATGATGGGGACAGTGTCC
CAGTGTCCTGTGAGGTCCACCCATCCTGATGGCACATGAGGATGTGGGCA
CAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTC
CATCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTG
ATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTC
ATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAG
CTCTCCTGTGAGGTCCATCCATCCTGATGATCCATGAGGATGTGGACACA
GCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCAT
CCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATA
GGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGGCACAT
GAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCT
CTCCTGTGAGGTCCATCCATCCTGATGATCCATGAGGATGTGGACACAGC
CTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCC
CTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGG
GACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGGCACATGA
GGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCT
CCTGTGAGGTCCATCCATCCTGATGATCCATGAGGATGTGGACACAGCCT
CTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCT
CCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGA
CCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGATCCATGAGG
ATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCT
GTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTG
TGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCC
TGATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACC
ATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGCTTCACGAGGAC
GTGGGCACAGCCTCTGTGTATGATGGGGACAGTGTCCCAGTGTCCTGTGA
GGTCCATCCATCCTGATGGCACATGAGGATGTGGACACAGCCTCTGTGTG
TGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATG
GTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTC
CCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATGAGGATGTGGA
CACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGAT
CCATCCATCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTGA
GATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGAT
CCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCC
AGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCAC
AGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCC
ACCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGA
TGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCATCCTGATGGTTCA
TGAGGATGTGGGCACAGCCTCTGTGTGTGAGATA
 G
G
 1 a0001c0001t0001g0214
a0001c0001t0001g0214
 1 HG02622.hp1
HG02622.hp1
 intron_variant MODIFIER c.910+370_910+2752de
others(1): Show 
c.910+370_910+2752del
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 INFO_REALIGN_3_PRIME chrX 1636924
chrX:1636931
GTGTCCCA
others(1553): Show 
GTGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGGCACATGAGGAT
GTGGGCACAGCCTCTGTGTGTGATGGGGACAGTGTCCCAGCTCTCCTGTG
AGGTCCATCCATCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGT
GTGAGATAAGGACTGTGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGA
TGCTTCACGAGGACGTGGGCACAGCCTCTGTGTATGATGGGGACAGTGTC
CCAGTGTCCTGTGAGGTCCATCCATCCTGATGGCACATGAGGATGTGGAC
ACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATC
CATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTATGAT
GGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGCTTCAC
GAGGACGTGGGCACAGCCTCTGTGTATGATGGGGACAGTGTCCCAGTGTC
CTGTGAGGTCCACCCATCCTGATGGCACATGAGGATGTGGGCACAGCCTC
TGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCAT
CCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGA
CAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGA
TGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCT
GTGAGGTCCATCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTG
TGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCT
GATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCA
TGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGGCACATGAGGATG
TGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGT
GAGGTCCATCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTG
TGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGA
TGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATG
TCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGGCACATGAGGATGTG
GGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGA
GGTCCATCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTG
TGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATG
GTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTC
CCAGCTCTCCTGTGAGGTCCATCCATCCTGATGATCCATGAGGATGTGGA
CACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGAT
CCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGA
GATAGGGACCA
 G
G
 2 a0001c0001t0002g0134
a0001c0003t0001g0062
a0001c0001t0002g0134
a0001c0003t0001g0062
 2 HG01975.hp1
HG02615.hp1
HG01975.hp1
HG02615.hp1
 intron_variant MODIFIER c.910+444_910+2003de
others(1): Show 
c.910+444_910+2003del
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 INFO_REALIGN_3_PRIME chrX 1636931
chrX:1636931
GTGTCCCA
others(2376): Show 
GTGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGGCACATGAGGAT
GTGGGCACAGCCTCTGTGTGTGATGGGGACAGTGTCCCAGCTCTCCTGTG
AGGTCCATCCATCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGT
GTGAGATAAGGACTGTGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGA
TGCTTCACGAGGACGTGGGCACAGCCTCTGTGTATGATGGGGACAGTGTC
CCAGTGTCCTGTGAGGTCCATCCATCCTGATGGCACATGAGGATGTGGAC
ACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATC
CATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTATGAT
GGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGCTTCAC
GAGGACGTGGGCACAGCCTCTGTGTATGATGGGGACAGTGTCCCAGTGTC
CTGTGAGGTCCACCCATCCTGATGGCACATGAGGATGTGGGCACAGCCTC
TGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCAT
CCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGA
CAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGA
TGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCT
GTGAGGTCCATCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTG
TGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCT
GATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCA
TGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGGCACATGAGGATG
TGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGT
GAGGTCCATCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTG
TGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGA
TGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATG
TCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGGCACATGAGGATGTG
GGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGA
GGTCCATCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTG
TGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATG
GTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTC
CCAGCTCTCCTGTGAGGTCCATCCATCCTGATGATCCATGAGGATGTGGA
CACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGAT
CCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGA
GATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGGC
ACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCC
AGCTCTCCTGTGAGGTCCACCCATCCTGATGCTTCACGAGGACGTGGGCA
CAGCCTCTGTGTATGATGGGGACAGTGTCCCAGTGTCCTGTGAGGTCCAT
CCATCCTGATGGCACATGAGGATGTGGACACAGCCTCTGTGTGTGTGATG
GGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATG
AGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTC
TCCTGTGAGGTCCACCCATCCTGATGATCCATGAGGATGTGGACACAGCC
TCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCA
TCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGG
ACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGATCCATGAG
GATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCC
TGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCT
GTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATC
CTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGAC
AGTGTCCCAGTGTCCTGTGAGATCCATCCATCCTGATGGTTCATGAGGAT
GTGGGCACAGCCTCTGTGTGTGAGATAGGGACCA
 G
G
 79 a0001c0001t0001g0012
a0001c0001t0001g0014
a0001c0001t0001g0017
others(76): Show 
a0001c0001t0001g0012
a0001c0001t0001g0014
a0001c0001t0001g0017
a0001c0001t0001g0019
a0001c0001t0001g0021
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0043
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0065
a0001c0001t0001g0067
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0086
a0001c0001t0001g0097
a0001c0001t0001g0105
a0001c0001t0001g0106
a0001c0001t0001g0137
a0001c0001t0001g0158
a0001c0001t0001g0174
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0206
a0001c0001t0001g0209
a0001c0001t0002g0132
a0001c0001t0002g0140
a0001c0001t0002g0143
a0001c0001t0002g0145
a0001c0001t0002g0170
a0001c0001t0002g0200
a0001c0003t0001g0013
a0001c0003t0001g0023
a0001c0003t0001g0038
a0001c0003t0001g0050
a0001c0003t0001g0051
a0001c0003t0001g0059
a0001c0003t0001g0091
a0001c0003t0001g0093
a0001c0003t0001g0094
a0001c0003t0001g0107
a0001c0003t0002g0133
a0001c0003t0002g0149
a0001c0003t0002g0150
a0002c0002t0001g0002
a0002c0002t0001g0003
a0002c0002t0001g0020
a0002c0002t0001g0026
a0002c0002t0001g0052
a0002c0002t0001g0054
a0002c0002t0001g0087
a0002c0002t0001g0089
a0002c0002t0001g0099
a0002c0002t0001g0108
a0002c0002t0001g0122
a0002c0002t0001g0126
a0002c0002t0001g0127
a0002c0002t0001g0130
a0002c0002t0001g0175
a0002c0002t0001g0189
a0002c0002t0001g0210
a0002c0002t0001g0221
a0002c0002t0001g0222
a0002c0002t0002g0136
a0002c0002t0002g0159
a0002c0002t0002g0178
a0002c0002t0002g0181
a0002c0002t0002g0186
a0002c0006t0001g0104
a0002c0006t0001g0187
a0002c0010t0001g0010
a0003c0009t0001g0011
a0005c0016t0001g0045
a0006c0011t0001g0139
a0007c0012t0001g0109
a0009c0014t0002g0075
a0010c0015t0002g0179
a0011c0008t0001g0034
 79 HG00099.hp2
HG00323.hp2
HG00438.hp2
others(76): Show 
HG00099.hp2
HG00323.hp2
HG00438.hp2
HG00544.hp2
HG00597.hp2
HG00733.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01168.hp1
HG01175.hp1
HG01978.hp2
HG01993.hp1
HG01993.hp2
HG02155.hp1
HG02257.hp1
HG02273.hp2
HG02280.hp1
HG02293.hp2
HG02451.hp2
HG02523.hp2
HG02559.hp2
HG02622.hp2
HG02630.hp1
HG02683.hp1
HG02683.hp2
HG02809.hp2
HG02818.hp1
HG02886.hp2
HG02976.hp1
HG02976.hp2
HG03195.hp1
HG03195.hp2
HG03239.hp2
HG03453.hp1
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03540.hp2
HG03669.hp2
HG04184.hp1
HG04184.hp2
HG06807.hp1
HG06807.hp2
NA18939.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18951.hp1
NA18963.hp1
NA18963.hp2
NA18968.hp1
NA18968.hp2
NA18973.hp2
NA18974.hp1
NA18986.hp2
NA18992.hp1
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA19002.hp2
NA19003.hp2
NA19010.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19062.hp1
NA19064.hp2
NA19065.hp2
NA19072.hp2
NA19077.hp2
NA19080.hp2
NA19081.hp2
NA19085.hp1
NA19091.hp1
NA19240.hp2
NA20300.hp1
 intron_variant MODIFIER c.910+444_910+2826de
others(1): Show 
c.910+444_910+2826del
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 INFO_REALIGN_3_PRIME chrX 1636931
chrX:1636939
GC
GC
 G
G
 22 a0001c0001t0001g0049
a0001c0001t0001g0072
a0001c0001t0001g0110
others(19): Show 
a0001c0001t0001g0049
a0001c0001t0001g0072
a0001c0001t0001g0110
a0001c0001t0001g0205
a0001c0001t0002g0152
a0001c0001t0002g0164
a0001c0003t0001g0092
a0001c0003t0001g0115
a0001c0003t0001g0193
a0001c0003t0001g0219
a0001c0003t0002g0173
a0001c0003t0002g0182
a0002c0002t0001g0018
a0002c0002t0001g0085
a0002c0002t0001g0095
a0002c0002t0001g0151
a0002c0002t0002g0096
a0002c0002t0002g0166
a0002c0002t0002g0207
a0002c0002t0002g0213
a0003c0005t0001g0004
a0012c0007t0001g0036
 22 HG00423.hp2
HG02080.hp1
HG02155.hp2
others(19): Show 
HG00423.hp2
HG02080.hp1
HG02155.hp2
HG02165.hp2
HG02602.hp2
HG02723.hp1
HG03453.hp2
HG03704.hp1
HG03834.hp1
NA18941.hp2
NA18947.hp2
NA18950.hp2
NA18954.hp2
NA18975.hp1
NA18981.hp1
NA18985.hp1
NA18992.hp2
NA18999.hp2
NA19011.hp2
NA19080.hp1
NA19082.hp1
NA20300.hp2
 intron_variant MODIFIER c.910+380delC
c.910+380delC
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1636939
chrX:1636939
GCTCTCCT
others(75): Show 
GCTCTCCTGTGAGGTCCATCCATCCTGATGGCACATGAGGATGTGGGCAC
AGCCTCTGTGTGTGATGGGGACAGTGTCCCAGC
 G
G
 4 a0001c0001t0001g0024
a0001c0001t0001g0041
a0002c0002t0001g0042
others(1): Show 
a0001c0001t0001g0024
a0001c0001t0001g0041
a0002c0002t0001g0042
a0002c0002t0001g0129
 4 HG03239.hp1
HG03831.hp1
NA18942.hp2
others(1): Show 
HG03239.hp1
HG03831.hp1
NA18942.hp2
NA18973.hp1
 intron_variant MODIFIER c.910+380_910+461del
others(82): Show 
c.910+380_910+461delCTCTCCTGTGAGGTCCATCCATCCTGATGG
CACATGAGGATGTGGGCACAGCCTCTGTGTGTGATGGGGACAGTGTCCCA
GC
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1636939
chrX:1636939
GCTCTCCT
others(1554): Show 
GCTCTCCTGTGAGGTCCATCCATCCTGATGGCACATGAGGATGTGGGCAC
AGCCTCTGTGTGTGATGGGGACAGTGTCCCAGCTCTCCTGTGAGGTCCAT
CCATCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATA
AGGACTGTGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGCTTCAC
GAGGACGTGGGCACAGCCTCTGTGTATGATGGGGACAGTGTCCCAGTGTC
CTGTGAGGTCCATCCATCCTGATGGCACATGAGGATGTGGACACAGCCTC
TGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTC
CTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTATGATGGGGACAG
TGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGCTTCACGAGGACGT
GGGCACAGCCTCTGTGTATGATGGGGACAGTGTCCCAGTGTCCTGTGAGG
TCCACCCATCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTG
AGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGA
TCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCC
CAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCA
CAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTC
CATCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTG
ATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTC
ATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAG
CTCTCCTGTGAGGTCCATCCATCCTGATGGCACATGAGGATGTGGGCACA
GCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCA
TCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGAT
GGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCAT
GAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCT
CTCCTGTGAGGTCCATCCATCCTGATGGCACATGAGGATGTGGGCACAGC
CTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATC
CATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGG
GGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGA
GGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCT
CCTGTGAGGTCCATCCATCCTGATGATCCATGAGGATGTGGACACAGCCT
CTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCT
CCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGA
CCATGTCCCAGC
 G
G
 1 a0001c0003t0001g0030
a0001c0003t0001g0030
 1 NA18947.hp1
NA18947.hp1
 intron_variant MODIFIER c.910+380_910+1940de
others(1): Show 
c.910+380_910+1940del
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1636939
chrX:1636939
GCTCTCCT
others(2377): Show 
GCTCTCCTGTGAGGTCCATCCATCCTGATGGCACATGAGGATGTGGGCAC
AGCCTCTGTGTGTGATGGGGACAGTGTCCCAGCTCTCCTGTGAGGTCCAT
CCATCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATA
AGGACTGTGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGCTTCAC
GAGGACGTGGGCACAGCCTCTGTGTATGATGGGGACAGTGTCCCAGTGTC
CTGTGAGGTCCATCCATCCTGATGGCACATGAGGATGTGGACACAGCCTC
TGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTC
CTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTATGATGGGGACAG
TGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGCTTCACGAGGACGT
GGGCACAGCCTCTGTGTATGATGGGGACAGTGTCCCAGTGTCCTGTGAGG
TCCACCCATCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTG
AGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGA
TCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCC
CAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCA
CAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTC
CATCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTG
ATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTC
ATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAG
CTCTCCTGTGAGGTCCATCCATCCTGATGGCACATGAGGATGTGGGCACA
GCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCA
TCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGAT
GGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCAT
GAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCT
CTCCTGTGAGGTCCATCCATCCTGATGGCACATGAGGATGTGGGCACAGC
CTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATC
CATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGG
GGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGA
GGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCT
CCTGTGAGGTCCATCCATCCTGATGATCCATGAGGATGTGGACACAGCCT
CTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCT
CCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGA
CCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGGCACATGAGG
ATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCC
TGTGAGGTCCACCCATCCTGATGCTTCACGAGGACGTGGGCACAGCCTCT
GTGTATGATGGGGACAGTGTCCCAGTGTCCTGTGAGGTCCATCCATCCTG
ATGGCACATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGT
GTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTG
GGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGA
GGTCCACCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTG
TGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCATCCTGATG
GCACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTC
CCAGCTCTCCTGTGAGGTCCATCCATCCTGATGATCCATGAGGATGTGGA
CACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGAT
CCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGA
GATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGAT
CCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCC
AGTGTCCTGTGAGATCCATCCATCCTGATGGTTCATGAGGATGTGGGCAC
AGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGC
 G
G
 30 a0001c0001t0001g0025
a0001c0001t0001g0058
a0001c0001t0001g0061
others(27): Show 
a0001c0001t0001g0025
a0001c0001t0001g0058
a0001c0001t0001g0061
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0068
a0001c0001t0001g0077
a0001c0001t0001g0114
a0001c0001t0002g0039
a0001c0001t0002g0120
a0001c0001t0002g0167
a0001c0001t0002g0176
a0001c0001t0002g0201
a0001c0003t0001g0032
a0001c0003t0001g0033
a0001c0003t0001g0113
a0001c0003t0002g0177
a0002c0002t0001g0055
a0002c0002t0001g0066
a0002c0002t0001g0125
a0002c0002t0001g0185
a0002c0002t0001g0220
a0002c0002t0002g0112
a0002c0002t0002g0131
a0002c0002t0002g0146
a0002c0002t0002g0156
a0002c0002t0002g0162
a0002c0002t0002g0163
a0004c0004t0001g0169
a0014c0018t0001g0060
 30 HG00423.hp1
HG00438.hp1
HG00544.hp1
others(27): Show 
HG00423.hp1
HG00438.hp1
HG00544.hp1
HG00597.hp1
HG00733.hp2
HG01081.hp2
HG01346.hp2
HG01496.hp1
HG01934.hp1
HG01981.hp1
HG02004.hp2
HG02080.hp2
HG02148.hp2
HG02165.hp1
HG03834.hp2
HG03927.hp2
HG04204.hp2
NA18941.hp1
NA18942.hp1
NA18956.hp1
NA18969.hp1
NA18969.hp2
NA18975.hp2
NA18980.hp1
NA18981.hp2
NA18988.hp1
NA19064.hp1
NA19074.hp1
NA19077.hp1
NA19081.hp1
 intron_variant MODIFIER c.910+380_910+2763de
others(1): Show 
c.910+380_910+2763del
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1636939
chrX:1636942
C
C
 G
G
 22 a0001c0001t0001g0049
a0001c0001t0001g0072
a0001c0001t0001g0110
others(19): Show 
a0001c0001t0001g0049
a0001c0001t0001g0072
a0001c0001t0001g0110
a0001c0001t0001g0205
a0001c0001t0002g0152
a0001c0001t0002g0164
a0001c0003t0001g0092
a0001c0003t0001g0115
a0001c0003t0001g0193
a0001c0003t0001g0219
a0001c0003t0002g0173
a0001c0003t0002g0182
a0002c0002t0001g0018
a0002c0002t0001g0085
a0002c0002t0001g0095
a0002c0002t0001g0151
a0002c0002t0002g0096
a0002c0002t0002g0166
a0002c0002t0002g0207
a0002c0002t0002g0213
a0003c0005t0001g0004
a0012c0007t0001g0036
 22 HG00423.hp2
HG02080.hp1
HG02155.hp2
others(19): Show 
HG00423.hp2
HG02080.hp1
HG02155.hp2
HG02165.hp2
HG02602.hp2
HG02723.hp1
HG03453.hp2
HG03704.hp1
HG03834.hp1
NA18941.hp2
NA18947.hp2
NA18950.hp2
NA18954.hp2
NA18975.hp1
NA18981.hp1
NA18985.hp1
NA18992.hp2
NA18999.hp2
NA19011.hp2
NA19080.hp1
NA19082.hp1
NA20300.hp2
 intron_variant MODIFIER c.910+382C>G
c.910+382C>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1636942
chrX:1636970
C
C
 T
T
 1 a0001c0001t0001g0005
a0001c0001t0001g0005
 1 NA18980.hp2
NA18980.hp2
 intron_variant MODIFIER c.910+410C>T
c.910+410C>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1636970
chrX:1636971
A
A
 T
T
 1 a0001c0001t0001g0005
a0001c0001t0001g0005
 1 NA18980.hp2
NA18980.hp2
 intron_variant MODIFIER c.910+411A>T
c.910+411A>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1636971
chrX:1636971
ACATGAGG
others(3446): Show 
ACATGAGGATGTGGGCACAGCCTCTGTGTGTGATGGGGACAGTGTCCCAG
CTCTCCTGTGAGGTCCATCCATCCTGATGGCACATGAGGATGTGGGCACA
GCCTCTGTGTGTGAGATAAGGACTGTGTCCCAGCTCTCCTGTGAGGTCCA
CCCATCCTGATGCTTCACGAGGACGTGGGCACAGCCTCTGTGTATGATGG
GGACAGTGTCCCAGTGTCCTGTGAGGTCCATCCATCCTGATGGCACATGA
GGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTC
CTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTC
TGTGTATGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCT
GATGCTTCACGAGGACGTGGGCACAGCCTCTGTGTATGATGGGGACAGTG
TCCCAGTGTCCTGTGAGGTCCACCCATCCTGATGGCACATGAGGATGTGG
GCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAG
GTCCATCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGT
GTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGG
TTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCC
CAGCTCTCCTGTGAGGTCCATCCATCCTGATGATCCATGAGGATGTGGAC
ACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATC
CATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAG
ATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGGCA
CATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCA
GCTCTCCTGTGAGGTCCATCCATCCTGATGATCCATGAGGATGTGGACAC
AGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCA
TCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGAT
AGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGGCACA
TGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGC
TCTCCTGTGAGGTCCATCCATCCTGATGATCCATGAGGATGTGGACACAG
CCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATC
CCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAG
GGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGATCCATG
AGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGT
CCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCT
CTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCA
TCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGG
ACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGCTTCACGAG
GACGTGGGCACAGCCTCTGTGTATGATGGGGACAGTGTCCCAGTGTCCTG
TGAGGTCCATCCATCCTGATGGCACATGAGGATGTGGACACAGCCTCTGT
GTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTG
ATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCAT
GTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATGAGGATGT
GGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGA
GATCCATCCATCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGTG
TGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGAT
GATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGT
CCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGG
CACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGG
TCCACCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTG
TGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCATCCTGATGGT
TCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCC
AGCTCTCCTGTGAGGTCCATCCATCCTGATGGCACATGAGGATGTGGGCA
CAGCCTCTGTGTGTGAGATAAGGACTGTGTCCCAGCTCTCCTGTGAGGTC
CACCCATCCTGATGCTTCACGAGGACGTGGGCACAGCCTCTGTGTATGAT
GGGGACAGTGTCCCAGTGTCCTGTGAGGTCCATCCATCCTGATGGCACAT
GAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTG
TCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCC
TCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCC
ATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGG
GACAGTGTCCCAGTGTCCTGTGAGATCCATCCATCCTGATGGCACATGAG
GATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTC
CTGTGAGGTCCATCCATCCTGATGATCCATGAGGATGTGGACACAGCCTC
TGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTC
CTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGAC
CATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATGAGGA
TGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTG
TGAGATCCATCCATCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGT
GTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCT
GATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAG
TGTCCCAGTGTCCTGTGAGGTCCATCCCTCCTGATGGTTCATGAGGATGT
GGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTG
AGGTCCACCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGT
GTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGAT
GGTT
 A
A
 10 a0001c0001t0001g0001
a0001c0001t0001g0121
a0001c0001t0002g0184
others(7): Show 
a0001c0001t0001g0001
a0001c0001t0001g0121
a0001c0001t0002g0184
a0001c0003t0001g0070
a0001c0003t0002g0155
a0002c0002t0001g0119
a0002c0002t0002g0160
a0002c0002t0002g0166
a0002c0002t0002g0172
a0013c0017t0001g0111
 11 HG01168.hp2
HG01884.hp2
HG02080.hp1
others(8): Show 
HG01168.hp2
HG01884.hp2
HG02080.hp1
HG02280.hp2
HG02523.hp1
HG02559.hp1
HG03041.hp2
HG03516.hp2
NA18977.hp2
NA19057.hp1
NA19240.hp1
 intron_variant MODIFIER c.910+444_911-2347de
others(1): Show 
c.910+444_911-2347del
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 INFO_REALIGN_3_PRIME chrX 1636971
chrX:1636971
ACATGAGG
others(4104): Show 
ACATGAGGATGTGGGCACAGCCTCTGTGTGTGATGGGGACAGTGTCCCAG
CTCTCCTGTGAGGTCCATCCATCCTGATGGCACATGAGGATGTGGGCACA
GCCTCTGTGTGTGAGATAAGGACTGTGTCCCAGCTCTCCTGTGAGGTCCA
CCCATCCTGATGCTTCACGAGGACGTGGGCACAGCCTCTGTGTATGATGG
GGACAGTGTCCCAGTGTCCTGTGAGGTCCATCCATCCTGATGGCACATGA
GGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTC
CTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTC
TGTGTATGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCT
GATGCTTCACGAGGACGTGGGCACAGCCTCTGTGTATGATGGGGACAGTG
TCCCAGTGTCCTGTGAGGTCCACCCATCCTGATGGCACATGAGGATGTGG
GCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAG
GTCCATCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGT
GTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGG
TTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCC
CAGCTCTCCTGTGAGGTCCATCCATCCTGATGATCCATGAGGATGTGGAC
ACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATC
CATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAG
ATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGGCA
CATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCA
GCTCTCCTGTGAGGTCCATCCATCCTGATGATCCATGAGGATGTGGACAC
AGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCA
TCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGAT
AGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGGCACA
TGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGC
TCTCCTGTGAGGTCCATCCATCCTGATGATCCATGAGGATGTGGACACAG
CCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATC
CCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAG
GGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGATCCATG
AGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGT
CCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCT
CTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCA
TCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGG
ACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGCTTCACGAG
GACGTGGGCACAGCCTCTGTGTATGATGGGGACAGTGTCCCAGTGTCCTG
TGAGGTCCATCCATCCTGATGGCACATGAGGATGTGGACACAGCCTCTGT
GTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTG
ATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCAT
GTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATGAGGATGT
GGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGA
GATCCATCCATCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGTG
TGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGAT
GATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGT
CCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGG
CACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGG
TCCACCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTG
TGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCATCCTGATGGT
TCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCC
AGCTCTCCTGTGAGGTCCATCCATCCTGATGGCACATGAGGATGTGGGCA
CAGCCTCTGTGTGTGAGATAAGGACTGTGTCCCAGCTCTCCTGTGAGGTC
CACCCATCCTGATGCTTCACGAGGACGTGGGCACAGCCTCTGTGTATGAT
GGGGACAGTGTCCCAGTGTCCTGTGAGGTCCATCCATCCTGATGGCACAT
GAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTG
TCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCC
TCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCC
ATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGG
GACAGTGTCCCAGTGTCCTGTGAGATCCATCCATCCTGATGGCACATGAG
GATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTC
CTGTGAGGTCCATCCATCCTGATGATCCATGAGGATGTGGACACAGCCTC
TGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTC
CTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGAC
CATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATGAGGA
TGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTG
TGAGATCCATCCATCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGT
GTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCT
GATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAG
TGTCCCAGTGTCCTGTGAGGTCCATCCCTCCTGATGGTTCATGAGGATGT
GGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTG
AGGTCCACCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGT
GTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGAT
GGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGT
CCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGCTTCATGAGGACGTGG
GCACAGCCTCTGTGTATGATGGGGACAGTGTCCCAGTGTCCTGTGAGATC
CATCCATCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTGAG
ATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGATC
CATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCA
GTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACA
GCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCA
CCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGAT
GGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCATCCTGATGGCACAT
GAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCT
CTCCTGTGAGGTCCACCCATCCTGATGATCCATGAGGATGTGGACACAGC
CTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGGTCCATCC
CTCCTGATGGTT
 A
A
 4 a0001c0001t0001g0079
a0001c0001t0001g0123
a0001c0001t0001g0212
others(1): Show 
a0001c0001t0001g0079
a0001c0001t0001g0123
a0001c0001t0001g0212
a0003c0005t0001g0202
 4 HG01891.hp2
HG02809.hp1
HG02922.hp1
others(1): Show 
HG01891.hp2
HG02809.hp1
HG02922.hp1
NA18955.hp1
 intron_variant MODIFIER c.910+444_911-1689de
others(1): Show 
c.910+444_911-1689del
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 INFO_REALIGN_3_PRIME chrX 1636971
chrX:1636980
T
T
 C
C
 1 a0001c0003t0001g0171
a0001c0003t0001g0171
 1 NA21309.hp2
NA21309.hp2
 intron_variant MODIFIER c.910+420T>C
c.910+420T>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1636980
chrX:1637001
T
T
 TGA
TGA
 3 a0001c0001t0001g0005
a0002c0002t0001g0095
a0002c0002t0002g0198
a0001c0001t0001g0005
a0002c0002t0001g0095
a0002c0002t0002g0198
 3 HG01123.hp2
HG02155.hp2
NA18980.hp2
HG01123.hp2
HG02155.hp2
NA18980.hp2
 intron_variant MODIFIER c.910+442_910+443dup
others(2): Show 
c.910+442_910+443dupGA
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 INFO_REALIGN_3_PRIME chrX 1637001
chrX:1637005
G
G
 A
A
 3 a0001c0001t0001g0005
a0002c0002t0001g0095
a0002c0002t0002g0198
a0001c0001t0001g0005
a0002c0002t0001g0095
a0002c0002t0002g0198
 3 HG01123.hp2
HG02155.hp2
NA18980.hp2
HG01123.hp2
HG02155.hp2
NA18980.hp2
 intron_variant MODIFIER c.910+445G>A
c.910+445G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1637005
chrX:1637006
G
G
 A
A
 3 a0001c0001t0001g0005
a0002c0002t0001g0095
a0002c0002t0002g0198
a0001c0001t0001g0005
a0002c0002t0001g0095
a0002c0002t0002g0198
 3 HG01123.hp2
HG02155.hp2
NA18980.hp2
HG01123.hp2
HG02155.hp2
NA18980.hp2
 intron_variant MODIFIER c.910+446G>A
c.910+446G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1637006
chrX:1637011
A
A
 T
T
 3 a0001c0001t0001g0005
a0002c0002t0001g0095
a0002c0002t0002g0198
a0001c0001t0001g0005
a0002c0002t0001g0095
a0002c0002t0002g0198
 3 HG01123.hp2
HG02155.hp2
NA18980.hp2
HG01123.hp2
HG02155.hp2
NA18980.hp2
 intron_variant MODIFIER c.910+451A>T
c.910+451A>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1637011
chrX:1637011
AGTGTCCC
others(2378): Show 
AGTGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGGCACATGAGGA
TGTGGGCACAGCCTCTGTGTGTGAGATAAGGACTGTGTCCCAGCTCTCCT
GTGAGGTCCACCCATCCTGATGCTTCACGAGGACGTGGGCACAGCCTCTG
TGTATGATGGGGACAGTGTCCCAGTGTCCTGTGAGGTCCATCCATCCTGA
TGGCACATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTG
TCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGG
GCACAGCCTCTGTGTATGATGGGGACAGTGTCCCAGTGTCCTGTGAGATC
CATCCCTCCTGATGCTTCACGAGGACGTGGGCACAGCCTCTGTGTATGAT
GGGGACAGTGTCCCAGTGTCCTGTGAGGTCCACCCATCCTGATGGCACAT
GAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCT
CTCCTGTGAGGTCCATCCATCCTGATGATCCATGAGGATGTGGACACAGC
CTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCC
CTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGG
GACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGATCCATGA
GGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTC
CTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTC
TGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCAT
CCTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGA
CCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGATCCATGAGG
ATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCT
GTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTG
TGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCC
TGATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACC
ATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGATCCATGAGGAT
GTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGT
GAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTG
TGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTG
ATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGT
GTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTG
GGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGA
GGTCCATCCATCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGTG
TGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGAT
GCTTCACGAGGACGTGGGCACAGCCTCTGTGTATGATGGGGACAGTGTCC
CAGTGTCCTGTGAGGTCCATCCATCCTGATGGCACATGAGGATGTGGACA
CAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCC
ATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGA
TAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCC
ATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAG
TGTCCTGTGAGATCCATCCATCCTGATGGCACATGAGGATGTGGGCACAG
CCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCAT
CCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATG
GGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATG
AGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTC
TCCTGTGAGGTCCACCCATCCTGATGATCCATGAGGATGTGGACACAGCC
TCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCA
TCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGG
ACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGGCACATGAG
GATGTGGGCACAGCCTCTGTGTGTGAGATAAGGACT
 A
A
 1 a0002c0002t0001g0151
a0002c0002t0001g0151
 1 NA18954.hp2
NA18954.hp2
 intron_variant MODIFIER c.910+478_910+2862de
others(1): Show 
c.910+478_910+2862del
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 INFO_REALIGN_3_PRIME chrX 1637011
chrX:1637012
GTGTCCCA
others(3448): Show 
GTGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGGCACATGAGGAT
GTGGGCACAGCCTCTGTGTGTGAGATAAGGACTGTGTCCCAGCTCTCCTG
TGAGGTCCACCCATCCTGATGCTTCACGAGGACGTGGGCACAGCCTCTGT
GTATGATGGGGACAGTGTCCCAGTGTCCTGTGAGGTCCATCCATCCTGAT
GGCACATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGT
CCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGG
CACAGCCTCTGTGTATGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCC
ATCCCTCCTGATGCTTCACGAGGACGTGGGCACAGCCTCTGTGTATGATG
GGGACAGTGTCCCAGTGTCCTGTGAGGTCCACCCATCCTGATGGCACATG
AGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTC
TCCTGTGAGGTCCATCCATCCTGATGATCCATGAGGATGTGGACACAGCC
TCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCC
TCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGG
ACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGATCCATGAG
GATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCC
TGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCT
GTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATC
CTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGAC
CATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGATCCATGAGGA
TGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTG
TGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGT
GTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCT
GATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCA
TGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGATCCATGAGGATG
TGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTG
AGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGT
GTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGA
TGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTG
TCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGG
GCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAG
GTCCATCCATCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGT
GAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATG
CTTCACGAGGACGTGGGCACAGCCTCTGTGTATGATGGGGACAGTGTCCC
AGTGTCCTGTGAGGTCCATCCATCCTGATGGCACATGAGGATGTGGACAC
AGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCA
TCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGAT
AGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCA
TGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGT
GTCCTGTGAGATCCATCCATCCTGATGGCACATGAGGATGTGGGCACAGC
CTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATC
CATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGG
GGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGA
GGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCT
CCTGTGAGGTCCACCCATCCTGATGATCCATGAGGATGTGGACACAGCCT
CTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCAT
CCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGA
CCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGGCACATGAGG
ATGTGGGCACAGCCTCTGTGTGTGAGATAAGGACTGTGTCCCAGCTCTCC
TGTGAGGTCCACCCATCCTGATGCTTCACGAGGACGTGGGCACAGCCTCT
GTGTATGATGGGGACAGTGTCCCAGTGTCCTGTGAGGTCCATCCATCCTG
ATGGCACATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGT
GTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTG
GGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGA
GGTCCACCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTG
TGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCATCCTGATG
GCACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTC
CCAGCTCTCCTGTGAGGTCCATCCATCCTGATGATCCATGAGGATGTGGA
CACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGAT
CCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGA
GATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGAT
CCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCC
AGTGTCCTGTGAGATCCATCCATCCTGATGGCACATGAGGATGTGGGCAC
AGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCC
ACCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGA
TGGGGACAGTGTCCCAGTGTCCTGTGAGGTCCATCCCTCCTGATGGTTCA
TGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGC
TCTCCTGTGAGGTCCACCCATCCTGATGATCCATGAGGATGTGGACACAG
CCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATC
CCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAG
GGACCA
 G
G
 5 a0001c0003t0001g0092
a0001c0003t0001g0115
a0001c0003t0001g0193
others(2): Show 
a0001c0003t0001g0092
a0001c0003t0001g0115
a0001c0003t0001g0193
a0001c0003t0001g0219
a0001c0003t0002g0182
 5 NA18941.hp2
NA18950.hp2
NA18985.hp1
others(2): Show 
NA18941.hp2
NA18950.hp2
NA18985.hp1
NA18992.hp2
NA19011.hp2
 intron_variant MODIFIER c.910+478_911-2311de
others(1): Show 
c.910+478_911-2311del
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 INFO_REALIGN_3_PRIME chrX 1637012
chrX:1637023
C
C
 G
G
 4 a0001c0001t0001g0024
a0001c0001t0001g0041
a0002c0002t0001g0042
others(1): Show 
a0001c0001t0001g0024
a0001c0001t0001g0041
a0002c0002t0001g0042
a0002c0002t0001g0129
 4 HG03239.hp1
HG03831.hp1
NA18942.hp2
others(1): Show 
HG03239.hp1
HG03831.hp1
NA18942.hp2
NA18973.hp1
 intron_variant MODIFIER c.910+463C>G
c.910+463C>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1637023
chrX:1637038
T
T
 C
C
 1 a0001c0001t0001g0005
a0001c0001t0001g0005
 1 NA18980.hp2
NA18980.hp2
 intron_variant MODIFIER c.910+478T>C
c.910+478T>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1637038
chrX:1637041
A
A
 C
C
 1 a0001c0001t0001g0024
a0001c0001t0001g0024
 1 HG03831.hp1
HG03831.hp1
 intron_variant MODIFIER c.910+481A>C
c.910+481A>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1637041
chrX:1637041
ATCCTGAT
others(318): Show 
ATCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAAG
GACTGTGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGCTTCACGA
GGACGTGGGCACAGCCTCTGTGTATGATGGGGACAGTGTCCCAGTGTCCT
GTGAGGTCCATCCATCCTGATGGCACATGAGGATGTGGACACAGCCTCTG
TGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCT
GATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTATGATGGGGACAGTG
TCCCAGTGTCCTGTGAGATCCATCCC
 A
A
 1 a0001c0001t0001g0053
a0001c0001t0001g0053
 1 HG01257.hp1
HG01257.hp1
 intron_variant MODIFIER c.910+490_910+814del
c.910+490_910+814del
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 INFO_REALIGN_3_PRIME chrX 1637041
chrX:1637051
C
C
 T
T
 1 a0001c0001t0002g0157
a0001c0001t0002g0157
 1 HG00735.hp2
HG00735.hp2
 intron_variant MODIFIER c.910+491C>T
c.910+491C>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1637051
chrX:1637052
A
A
 T
T
 1 a0001c0001t0002g0157
a0001c0001t0002g0157
 1 HG00735.hp2
HG00735.hp2
 intron_variant MODIFIER c.910+492A>T
c.910+492A>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1637052
chrX:1637052
ACATGAGG
others(4023): Show 
ACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAAGGACTGTGTCCC
AGCTCTCCTGTGAGGTCCACCCATCCTGATGCTTCACGAGGACGTGGGCA
CAGCCTCTGTGTATGATGGGGACAGTGTCCCAGTGTCCTGTGAGGTCCAT
CCATCCTGATGGCACATGAGGATGTGGACACAGCCTCTGTGTGTGTGATG
GGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATG
AGGATGTGGGCACAGCCTCTGTGTATGATGGGGACAGTGTCCCAGTGTCC
TGTGAGATCCATCCCTCCTGATGCTTCACGAGGACGTGGGCACAGCCTCT
GTGTATGATGGGGACAGTGTCCCAGTGTCCTGTGAGGTCCACCCATCCTG
ATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCAT
GTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGATCCATGAGGATGT
GGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGA
GATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTG
TGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGAT
GATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGT
CCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGG
CACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGG
TCCATCCATCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTG
AGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGA
TCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCC
CAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCA
CAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTC
CATCCATCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTGAG
ATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGATC
CATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCA
GTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACA
GCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCA
TCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGAT
GGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCAT
GAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCT
CTCCTGTGAGGTCCATCCATCCTGATGGCACATGAGGATGTGGGCACAGC
CTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACC
CATCCTGATGCTTCACGAGGACGTGGGCACAGCCTCTGTGTATGATGGGG
ACAGTGTCCCAGTGTCCTGTGAGGTCCATCCATCCTGATGGCACATGAGG
ATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCT
GTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTG
TGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCC
TGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACA
GTGTCCCAGTGTCCTGTGAGATCCATCCATCCTGATGGCACATGAGGATG
TGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGT
GAGGTCCATCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTG
TGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGA
TGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATG
TCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATGAGGATGTG
GACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAG
ATCCATCCATCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGT
GAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATG
GCACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAAGGACTGTGTC
CCAGCTCTCCTGTGAGGTCCACCCATCCTGATGCTTCACGAGGACGTGGG
CACAGCCTCTGTGTATGATGGGGACAGTGTCCCAGTGTCCTGTGAGGTCC
ATCCATCCTGATGGCACATGAGGATGTGGACACAGCCTCTGTGTGTGTGA
TGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCA
TGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGC
TCTCCTGTGAGGTCCACCCATCCTGATGATCCATGAGGATGTGGACACAG
CCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATC
CATCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAG
GGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGATCCATG
AGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGT
CCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCT
CTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCA
TCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGG
ACAGTGTCCCAGTGTCCTGTGAGATCCATCCATCCTGATGGCACATGAGG
ATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCC
TGTGAGGTCCACCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCT
GTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGGTCCATCCCTCC
TGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACC
ATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATGAGGAT
GTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGT
GAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTG
TGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTG
ATGCTTCATGAGGACGTGGGCACAGCCTCTGTGTATGATGGGGACAGTGT
CCCAGTGTCCTGTGAGATCCATCCATCCTGATGGCACATGAGGATGTGGG
CACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGG
TCCATCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTG
TGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGT
TCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCC
AGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATGAGGATGTGGACA
CAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCC
ATCCATCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGA
TAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCC
ATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAG
TGTCCTGTGAGGTCCATCCCTCCTGATGGTT
 A
A
 3 a0001c0001t0001g0072
a0001c0001t0001g0205
a0003c0005t0001g0004
a0001c0001t0001g0072
a0001c0001t0001g0205
a0003c0005t0001g0004
 3 HG02723.hp1
HG03453.hp2
NA20300.hp2
HG02723.hp1
HG03453.hp2
NA20300.hp2
 intron_variant MODIFIER c.910+529_911-1685de
others(1): Show 
c.910+529_911-1685del
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 INFO_REALIGN_3_PRIME chrX 1637052
chrX:1637061
TGTGGGCA
others(2378): Show 
TGTGGGCACAGCCTCTGTGTGTGAGATAAGGACTGTGTCCCAGCTCTCCT
GTGAGGTCCACCCATCCTGATGCTTCACGAGGACGTGGGCACAGCCTCTG
TGTATGATGGGGACAGTGTCCCAGTGTCCTGTGAGGTCCATCCATCCTGA
TGGCACATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTG
TCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGG
GCACAGCCTCTGTGTATGATGGGGACAGTGTCCCAGTGTCCTGTGAGATC
CATCCCTCCTGATGCTTCACGAGGACGTGGGCACAGCCTCTGTGTATGAT
GGGGACAGTGTCCCAGTGTCCTGTGAGGTCCACCCATCCTGATGGCACAT
GAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCT
CTCCTGTGAGGTCCATCCATCCTGATGATCCATGAGGATGTGGACACAGC
CTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCC
CTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGG
GACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGATCCATGA
GGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTC
CTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTC
TGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCAT
CCTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGA
CCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGATCCATGAGG
ATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCT
GTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTG
TGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCC
TGATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACC
ATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGATCCATGAGGAT
GTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGT
GAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTG
TGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTG
ATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGT
GTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTG
GGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGA
GGTCCATCCATCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGTG
TGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGAT
GCTTCACGAGGACGTGGGCACAGCCTCTGTGTATGATGGGGACAGTGTCC
CAGTGTCCTGTGAGGTCCATCCATCCTGATGGCACATGAGGATGTGGACA
CAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCC
ATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGA
TAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCC
ATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAG
TGTCCTGTGAGATCCATCCATCCTGATGGCACATGAGGATGTGGGCACAG
CCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCAT
CCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATG
GGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATG
AGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTC
TCCTGTGAGGTCCACCCATCCTGATGATCCATGAGGATGTGGACACAGCC
TCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCA
TCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGG
ACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGGCACATGAG
GATGTGGGCACAGCCTCTGTGTGTGAGATAAGGACTGTGTCCCAGCTCTC
CTGTGAGGTCCACCCATCCTGATGCTTCACGAGGAC
 T
T
 1 a0001c0001t0001g0035
a0001c0001t0001g0035
 1 HG02293.hp1
HG02293.hp1
 intron_variant MODIFIER c.910+521_910+2905de
others(1): Show 
c.910+521_910+2905del
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 INFO_REALIGN_3_PRIME chrX 1637061
chrX:1637066
G
G
 A
A
 2 a0001c0001t0002g0196
a0001c0001t0002g0218
a0001c0001t0002g0196
a0001c0001t0002g0218
 2 HG00741.hp1
HG01123.hp1
HG00741.hp1
HG01123.hp1
 intron_variant MODIFIER c.910+506G>A
c.910+506G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1637066
chrX:1637075
CTGTGTGT
others(3943): Show 
CTGTGTGTGAGATAAGGACTGTGTCCCAGCTCTCCTGTGAGGTCCACCCA
TCCTGATGCTTCACGAGGACGTGGGCACAGCCTCTGTGTATGATGGGGAC
AGTGTCCCAGTGTCCTGTGAGGTCCATCCATCCTGATGGCACATGAGGAT
GTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGT
GAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTG
TATGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATG
CTTCACGAGGACGTGGGCACAGCCTCTGTGTATGATGGGGACAGTGTCCC
AGTGTCCTGTGAGGTCCACCCATCCTGATGGCACATGAGGATGTGGGCAC
AGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCC
ATCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGA
TGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCA
TGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGC
TCTCCTGTGAGGTCCATCCATCCTGATGATCCATGAGGATGTGGACACAG
CCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATC
CCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAG
GGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGGCACATG
AGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTC
TCCTGTGAGGTCCATCCATCCTGATGATCCATGAGGATGTGGACACAGCC
TCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCC
TCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGG
ACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGGCACATGAG
GATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTC
CTGTGAGGTCCATCCATCCTGATGATCCATGAGGATGTGGACACAGCCTC
TGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTC
CTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGAC
CATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGATCCATGAGGA
TGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTG
TGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGT
GTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCT
GATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCA
TGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGCTTCACGAGGACG
TGGGCACAGCCTCTGTGTATGATGGGGACAGTGTCCCAGTGTCCTGTGAG
GTCCATCCATCCTGATGGCACATGAGGATGTGGACACAGCCTCTGTGTGT
GTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGG
TTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCC
CAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATGAGGATGTGGAC
ACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATC
CATCCATCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTGAG
ATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGATC
CATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCA
GTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACA
GCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCA
CCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGAT
GGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCATCCTGATGGTTCAT
GAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCT
CTCCTGTGAGGTCCATCCATCCTGATGGCACATGAGGATGTGGGCACAGC
CTCTGTGTGTGAGATAAGGACTGTGTCCCAGCTCTCCTGTGAGGTCCACC
CATCCTGATGCTTCACGAGGACGTGGGCACAGCCTCTGTGTATGATGGGG
ACAGTGTCCCAGTGTCCTGTGAGGTCCATCCATCCTGATGGCACATGAGG
ATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCT
GTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTG
TGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCC
TGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACA
GTGTCCCAGTGTCCTGTGAGATCCATCCATCCTGATGGCACATGAGGATG
TGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGT
GAGGTCCATCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTG
TGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGA
TGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATG
TCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATGAGGATGTG
GACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAG
ATCCATCCATCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGT
GAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATG
ATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTC
CCAGTGTCCTGTGAGGTCCATCCCTCCTGATGGTTCATGAGGATGTGGGC
ACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGT
CCACCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGT
GATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTT
CATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCA
GCTCTCCTGTGAGGTCCACCCATCCTGATGCTTCATGAGGACGTGGGCAC
AGCCTCTGTGTATGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATC
CATCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAG
GGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGATCCATG
AGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGT
CCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCT
CTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCA
TCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGG
ACAGTGTCCCAGTGTCCTGTGAGATCCATCCATCCTGATGGCACATGAGG
ATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCC
TGTGAGGTCCACCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCT
G
 C
C
 1 a0002c0002t0002g0198
a0002c0002t0002g0198
 1 HG01123.hp2
HG01123.hp2
 intron_variant MODIFIER c.910+525_911-1769de
others(1): Show 
c.910+525_911-1769del
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 INFO_REALIGN_3_PRIME chrX 1637075
chrX:1637081
G
G
 A
A
 5 a0002c0002t0001g0057
a0002c0002t0001g0116
a0002c0002t0001g0117
others(2): Show 
a0002c0002t0001g0057
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0124
a0002c0002t0002g0154
 5 HG00639.hp2
HG01361.hp1
HG01361.hp2
others(2): Show 
HG00639.hp2
HG01361.hp1
HG01361.hp2
HG01516.hp1
HG01517.hp1
 intron_variant MODIFIER c.910+521G>A
c.910+521G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1637081
chrX:1637081
GTGAGATA
others(76): Show 
GTGAGATAAGGACTGTGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGA
TGCTTCACGAGGACGTGGGCACAGCCTCTGTGTA
 G
G
 1 a0001c0001t0001g0083
a0001c0001t0001g0083
 1 HG02257.hp2
HG02257.hp2
 intron_variant MODIFIER c.910+525_910+607del
others(83): Show 
c.910+525_910+607delGATAAGGACTGTGTCCCAGCTCTCCTGTGA
GGTCCACCCATCCTGATGCTTCACGAGGACGTGGGCACAGCCTCTGTGTA
TGA
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 INFO_REALIGN_3_PRIME chrX 1637081
chrX:1637082
TGA
TGA
 T
T
 7 a0001c0001t0002g0157
a0001c0001t0002g0218
a0002c0002t0001g0057
others(4): Show 
a0001c0001t0002g0157
a0001c0001t0002g0218
a0002c0002t0001g0057
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0124
a0002c0002t0002g0154
 7 HG00639.hp2
HG00735.hp2
HG00741.hp1
others(4): Show 
HG00639.hp2
HG00735.hp2
HG00741.hp1
HG01361.hp1
HG01361.hp2
HG01516.hp1
HG01517.hp1
 intron_variant MODIFIER c.910+525_910+526del
others(2): Show 
c.910+525_910+526delGA
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 INFO_REALIGN_3_PRIME chrX 1637082
chrX:1637082
TGAGATAA
others(1474): Show 
TGAGATAAGGACTGTGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGAT
GCTTCACGAGGACGTGGGCACAGCCTCTGTGTATGATGGGGACAGTGTCC
CAGTGTCCTGTGAGGTCCATCCATCCTGATGGCACATGAGGATGTGGACA
CAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCC
ATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTATGATG
GGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGCTTCACG
AGGACGTGGGCACAGCCTCTGTGTATGATGGGGACAGTGTCCCAGTGTCC
TGTGAGGTCCACCCATCCTGATGGCACATGAGGATGTGGGCACAGCCTCT
GTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATC
CTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGAC
AGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGAT
GTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTG
TGAGGTCCATCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGT
GTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTG
ATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCAT
GTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGGCACATGAGGATGT
GGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTG
AGGTCCATCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGT
GTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGAT
GGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGT
CCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGGCACATGAGGATGTGG
GCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAG
GTCCATCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGT
GTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGG
TTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCC
CAGCTCTCCTGTGAGGTCCATCCATCCTGATGATCCATGAGGATGTGGAC
ACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATC
CATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAG
ATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGGCA
CATGAGGATGTGGGCACAGCCTCTGTGTGTGA
 T
T
 1 a0001c0001t0002g0196
a0001c0001t0002g0196
 1 HG01123.hp1
HG01123.hp1
 intron_variant MODIFIER c.910+525_910+2005de
others(1): Show 
c.910+525_910+2005del
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 INFO_REALIGN_3_PRIME chrX 1637082
chrX:1637082
TGAGATAA
others(2214): Show 
TGAGATAAGGACTGTGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGAT
GCTTCACGAGGACGTGGGCACAGCCTCTGTGTATGATGGGGACAGTGTCC
CAGTGTCCTGTGAGGTCCATCCATCCTGATGGCACATGAGGATGTGGACA
CAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCC
ATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTATGATG
GGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGCTTCACG
AGGACGTGGGCACAGCCTCTGTGTATGATGGGGACAGTGTCCCAGTGTCC
TGTGAGGTCCACCCATCCTGATGGCACATGAGGATGTGGGCACAGCCTCT
GTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATC
CTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGAC
AGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGAT
GTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTG
TGAGGTCCATCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGT
GTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTG
ATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCAT
GTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGGCACATGAGGATGT
GGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTG
AGGTCCATCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGT
GTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGAT
GGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGT
CCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGGCACATGAGGATGTGG
GCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAG
GTCCATCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGT
GTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGG
TTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCC
CAGCTCTCCTGTGAGGTCCATCCATCCTGATGATCCATGAGGATGTGGAC
ACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATC
CATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAG
ATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGGCA
CATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCA
GCTCTCCTGTGAGGTCCACCCATCCTGATGCTTCACGAGGACGTGGGCAC
AGCCTCTGTGTATGATGGGGACAGTGTCCCAGTGTCCTGTGAGGTCCATC
CATCCTGATGGCACATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGG
GGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGA
GGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCT
CCTGTGAGGTCCACCCATCCTGATGATCCATGAGGATGTGGACACAGCCT
CTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCAT
CCTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGA
CCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGATCCATGAGG
ATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCT
GTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTG
TGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCC
TGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACA
GTGTCCCAGTGTCCTGTGAGATCCATCCATCCTGATGGTTCATGAGGATG
TGGGCACAGCCTCTGTGTGTGA
 T
T
 1 a0001c0001t0002g0147
a0001c0001t0002g0147
 1 NA18954.hp1
NA18954.hp1
 intron_variant MODIFIER c.910+525_910+2745de
others(1): Show 
c.910+525_910+2745del
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 INFO_REALIGN_3_PRIME chrX 1637082
chrX:1637088
A
A
 G
G
 2 a0001c0001t0002g0157
a0001c0001t0002g0218
a0001c0001t0002g0157
a0001c0001t0002g0218
 2 HG00735.hp2
HG00741.hp1
HG00735.hp2
HG00741.hp1
 intron_variant MODIFIER c.910+528A>G
c.910+528A>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1637088
chrX:1637089
A
A
 G
G
 7 a0001c0001t0002g0157
a0001c0001t0002g0218
a0002c0002t0001g0057
others(4): Show 
a0001c0001t0002g0157
a0001c0001t0002g0218
a0002c0002t0001g0057
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0124
a0002c0002t0002g0154
 7 HG00639.hp2
HG00735.hp2
HG00741.hp1
others(4): Show 
HG00639.hp2
HG00735.hp2
HG00741.hp1
HG01361.hp1
HG01361.hp2
HG01516.hp1
HG01517.hp1
 intron_variant MODIFIER c.910+529A>G
c.910+529A>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1637089
chrX:1637094
T
T
 A
A
 7 a0001c0001t0002g0157
a0001c0001t0002g0218
a0002c0002t0001g0057
others(4): Show 
a0001c0001t0002g0157
a0001c0001t0002g0218
a0002c0002t0001g0057
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0124
a0002c0002t0002g0154
 7 HG00639.hp2
HG00735.hp2
HG00741.hp1
others(4): Show 
HG00639.hp2
HG00735.hp2
HG00741.hp1
HG01361.hp1
HG01361.hp2
HG01516.hp1
HG01517.hp1
 intron_variant MODIFIER c.910+534T>A
c.910+534T>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1637094
chrX:1637095
GTGTCCCA
others(2212): Show 
GTGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGCTTCACGAGGAC
GTGGGCACAGCCTCTGTGTATGATGGGGACAGTGTCCCAGTGTCCTGTGA
GGTCCATCCATCCTGATGGCACATGAGGATGTGGACACAGCCTCTGTGTG
TGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATG
GTTCATGAGGATGTGGGCACAGCCTCTGTGTATGATGGGGACAGTGTCCC
AGTGTCCTGTGAGATCCATCCCTCCTGATGCTTCACGAGGACGTGGGCAC
AGCCTCTGTGTATGATGGGGACAGTGTCCCAGTGTCCTGTGAGGTCCACC
CATCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAG
GGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGATCCATG
AGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGT
CCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCT
CTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCA
TCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGG
ACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGG
ATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCC
TGTGAGGTCCATCCATCCTGATGGCACATGAGGATGTGGGCACAGCCTCT
GTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATC
CTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGAC
AGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGAT
GTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTG
TGAGGTCCATCCATCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGT
GTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCT
GATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAG
TGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGT
GGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTG
AGGTCCATCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGT
GTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGAT
GGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGT
CCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGGCACATGAGGATGTGG
GCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAG
GTCCACCCATCCTGATGCTTCACGAGGACGTGGGCACAGCCTCTGTGTAT
GATGGGGACAGTGTCCCAGTGTCCTGTGAGGTCCATCCATCCTGATGGCA
CATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCA
GTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACA
GCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCA
CCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGAT
GGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCATCCTGATGGCACAT
GAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCT
CTCCTGTGAGGTCCATCCATCCTGATGATCCATGAGGATGTGGACACAGC
CTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCC
CTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGG
GACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATGA
GGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTC
CTGTGAGATCCATCCATCCTGATGGTTCATGAGGATGTGGGCACAGCCTC
TGTGTGTGAGATAGGGACCA
 G
G
 2 a0001c0001t0001g0056
a0001c0001t0001g0076
a0001c0001t0001g0056
a0001c0001t0001g0076
 2 HG00323.hp1
HG00735.hp1
HG00323.hp1
HG00735.hp1
 intron_variant MODIFIER c.910+561_910+2779de
others(1): Show 
c.910+561_910+2779del
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 INFO_REALIGN_3_PRIME chrX 1637095
chrX:1637103
GC
GC
 G
G
 5 a0002c0002t0001g0057
a0002c0002t0001g0116
a0002c0002t0001g0117
others(2): Show 
a0002c0002t0001g0057
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0124
a0002c0002t0002g0154
 5 HG00639.hp2
HG01361.hp1
HG01361.hp2
others(2): Show 
HG00639.hp2
HG01361.hp1
HG01361.hp2
HG01516.hp1
HG01517.hp1
 intron_variant MODIFIER c.910+544delC
c.910+544delC
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1637103
chrX:1637106
C
C
 G
G
 5 a0002c0002t0001g0057
a0002c0002t0001g0116
a0002c0002t0001g0117
others(2): Show 
a0002c0002t0001g0057
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0124
a0002c0002t0002g0154
 5 HG00639.hp2
HG01361.hp1
HG01361.hp2
others(2): Show 
HG00639.hp2
HG01361.hp1
HG01361.hp2
HG01516.hp1
HG01517.hp1
 intron_variant MODIFIER c.910+546C>G
c.910+546C>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1637106
chrX:1637121
C
C
 T
T
 13 a0001c0001t0001g0100
a0001c0001t0001g0102
a0001c0001t0001g0103
others(10): Show 
a0001c0001t0001g0100
a0001c0001t0001g0102
a0001c0001t0001g0103
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0002g0152
a0002c0002t0001g0057
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0124
a0002c0002t0002g0154
a0002c0002t0002g0191
a0008c0013t0001g0101
 13 HG00639.hp2
HG01361.hp1
HG01361.hp2
others(10): Show 
HG00639.hp2
HG01361.hp1
HG01361.hp2
HG01516.hp1
HG01517.hp1
HG01517.hp2
HG03704.hp1
NA18939.hp1
NA18951.hp2
NA18956.hp2
NA19002.hp1
NA19010.hp1
NA19074.hp2
 intron_variant MODIFIER c.910+561C>T
c.910+561C>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1637121
chrX:1637121
CCCATCCT
others(1882): Show 
CCCATCCTGATGCTTCACGAGGACGTGGGCACAGCCTCTGTGTATGATGG
GGACAGTGTCCCAGTGTCCTGTGAGGTCCATCCATCCTGATGGCACATGA
GGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTC
CTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTC
TGTGTATGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCT
GATGCTTCACGAGGACGTGGGCACAGCCTCTGTGTATGATGGGGACAGTG
TCCCAGTGTCCTGTGAGGTCCACCCATCCTGATGGCACATGAGGATGTGG
GCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAG
GTCCATCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGT
GTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGG
TTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCC
CAGCTCTCCTGTGAGGTCCATCCATCCTGATGATCCATGAGGATGTGGAC
ACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATC
CATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAG
ATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGGCA
CATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCA
GCTCTCCTGTGAGGTCCATCCATCCTGATGATCCATGAGGATGTGGACAC
AGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCA
TCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGAT
AGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGGCACA
TGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGC
TCTCCTGTGAGGTCCATCCATCCTGATGATCCATGAGGATGTGGACACAG
CCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATC
CCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAG
GGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGATCCATG
AGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGT
CCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCT
CTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCA
TCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGG
ACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGCTTCACGAG
GACGTGGGCACAGCCTCTGTGTATGATGGGGACAGTGTCCCAGTGTCCTG
TGAGGTCCATCCATCCTGATGGCACATGAGGATGTGGACACAGCCTCTGT
GTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTG
ATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCAT
GTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATGAGGATGT
GGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGA
GATCCATCCATCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGTG
TGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCAT
 C
C
 1 a0002c0002t0002g0188
a0002c0002t0002g0188
 1 HG03669.hp1
HG03669.hp1
 intron_variant MODIFIER c.910+573_910+2461de
others(1): Show 
c.910+573_910+2461del
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 INFO_REALIGN_3_PRIME chrX 1637121
chrX:1637133
C
C
 G
G
 7 a0001c0001t0001g0100
a0001c0001t0001g0102
a0001c0001t0001g0103
others(4): Show 
a0001c0001t0001g0100
a0001c0001t0001g0102
a0001c0001t0001g0103
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0002g0152
a0008c0013t0001g0101
 7 HG03704.hp1
NA18939.hp1
NA18951.hp2
others(4): Show 
HG03704.hp1
NA18939.hp1
NA18951.hp2
NA18956.hp2
NA19002.hp1
NA19010.hp1
NA19074.hp2
 intron_variant MODIFIER c.910+573C>G
c.910+573C>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1637133
chrX:1637133
C
C
 T
T
 1 a0004c0004t0004g0148
a0004c0004t0004g0148
 1 HG03831.hp2
HG03831.hp2
 intron_variant MODIFIER c.910+573C>T
c.910+573C>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1637133
chrX:1637138
C
C
 T
T
 26 a0001c0001t0001g0005
a0001c0001t0001g0006
a0001c0001t0001g0049
others(23): Show 
a0001c0001t0001g0005
a0001c0001t0001g0006
a0001c0001t0001g0049
a0001c0001t0001g0082
a0001c0001t0001g0100
a0001c0001t0001g0102
a0001c0001t0001g0103
a0001c0001t0001g0110
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0002g0152
a0001c0001t0002g0164
a0001c0001t0003g0090
a0001c0003t0001g0022
a0001c0003t0002g0173
a0002c0002t0001g0015
a0002c0002t0001g0018
a0002c0002t0001g0074
a0002c0002t0001g0085
a0002c0002t0001g0095
a0002c0002t0001g0129
a0002c0002t0002g0096
a0002c0002t0002g0199
a0002c0002t0002g0207
a0002c0002t0002g0213
a0008c0013t0001g0101
 26 HG00423.hp2
HG01257.hp2
HG01516.hp2
others(23): Show 
HG00423.hp2
HG01257.hp2
HG01516.hp2
HG02155.hp2
HG02165.hp2
HG02602.hp2
HG02818.hp2
HG02896.hp2
HG03239.hp1
HG03540.hp1
HG03704.hp1
HG03834.hp1
NA18906.hp1
NA18939.hp1
NA18947.hp2
NA18951.hp2
NA18956.hp2
NA18975.hp1
NA18980.hp2
NA18981.hp1
NA18999.hp2
NA19002.hp1
NA19010.hp1
NA19074.hp2
NA19080.hp1
NA21309.hp1
 intron_variant MODIFIER c.910+578C>T
c.910+578C>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1637138
chrX:1637144
C
C
 T
T
 1 a0001c0001t0002g0152
a0001c0001t0002g0152
 1 HG03704.hp1
HG03704.hp1
 intron_variant MODIFIER c.910+584C>T
c.910+584C>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1637144
chrX:1637160
GTGTATGA
others(2210): Show 
GTGTATGATGGGGACAGTGTCCCAGTGTCCTGTGAGGTCCATCCATCCTG
ATGGCACATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGT
GTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTG
GGCACAGCCTCTGTGTATGATGGGGACAGTGTCCCAGTGTCCTGTGAGAT
CCATCCCTCCTGATGCTTCACGAGGACGTGGGCACAGCCTCTGTGTATGA
TGGGGACAGTGTCCCAGTGTCCTGTGAGGTCCACCCATCCTGATGGCACA
TGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGC
TCTCCTGTGAGGTCCATCCATCCTGATGATCCATGAGGATGTGGACACAG
CCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATC
CCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAG
GGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGATCCATG
AGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGT
CCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCT
CTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCA
TCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGG
ACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGATCCATGAG
GATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCC
TGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCT
GTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATC
CTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGAC
CATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGATCCATGAGGA
TGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTG
TGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGT
GTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCT
GATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAG
TGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGT
GGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTG
AGGTCCATCCATCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGT
GTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGA
TGCTTCACGAGGACGTGGGCACAGCCTCTGTGTATGATGGGGACAGTGTC
CCAGTGTCCTGTGAGGTCCATCCATCCTGATGGCACATGAGGATGTGGAC
ACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATC
CATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAG
ATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATC
CATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCA
GTGTCCTGTGAGATCCATCCATCCTGATGGCACATGAGGATGTGGGCACA
GCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCA
TCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGAT
GGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCAT
GAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCT
CTCCTGTGAGGTCCACCCATCCTGATGATCCATGAGGATGTGGACACAGC
CTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCC
ATCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGG
GACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGGCACATGA
GGATGTGGGCACAGCCTC
 G
G
 1 a0001c0001t0002g0152
a0001c0001t0002g0152
 1 HG03704.hp1
HG03704.hp1
 intron_variant MODIFIER c.910+604_910+2820de
others(1): Show 
c.910+604_910+2820del
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 INFO_REALIGN_3_PRIME chrX 1637160
chrX:1637164
A
A
 G
G
 8 a0001c0001t0002g0168
a0002c0002t0001g0057
a0002c0002t0001g0116
others(5): Show 
a0001c0001t0002g0168
a0002c0002t0001g0057
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0124
a0002c0002t0002g0154
a0002c0002t0002g0191
a0002c0002t0002g0217
 8 HG00639.hp1
HG00639.hp2
HG01175.hp2
others(5): Show 
HG00639.hp1
HG00639.hp2
HG01175.hp2
HG01361.hp1
HG01361.hp2
HG01516.hp1
HG01517.hp1
HG01517.hp2
 intron_variant MODIFIER c.910+604A>G
c.910+604A>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1637164
chrX:1637169
G
G
 A
A
 14 a0001c0001t0001g0024
a0001c0001t0001g0049
a0001c0001t0001g0110
others(11): Show 
a0001c0001t0001g0024
a0001c0001t0001g0049
a0001c0001t0001g0110
a0001c0001t0002g0164
a0001c0003t0001g0171
a0001c0003t0002g0173
a0002c0002t0001g0018
a0002c0002t0001g0042
a0002c0002t0001g0085
a0002c0002t0001g0095
a0002c0002t0001g0129
a0002c0002t0002g0096
a0002c0002t0002g0207
a0002c0002t0002g0213
 14 HG00423.hp2
HG02155.hp2
HG02165.hp2
others(11): Show 
HG00423.hp2
HG02155.hp2
HG02165.hp2
HG02602.hp2
HG03239.hp1
HG03831.hp1
HG03834.hp1
NA18942.hp2
NA18947.hp2
NA18975.hp1
NA18981.hp1
NA18999.hp2
NA19080.hp1
NA21309.hp2
 intron_variant MODIFIER c.910+609G>A
c.910+609G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1637169
chrX:1637186
GTCCTGTG
others(1309): Show 
GTCCTGTGAGGTCCATCCATCCTGATGGCACATGAGGATGTGGACACAGC
CTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCC
CTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTATGATGGGGA
CAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGCTTCACGAGGA
CGTGGGCACAGCCTCTGTGTATGATGGGGACAGTGTCCCAGTGTCCTGTG
AGGTCCACCCATCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGT
GTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGA
TGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTG
TCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGG
GCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAG
GTCCATCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGT
GTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGG
TTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCC
CAGCTCTCCTGTGAGGTCCATCCATCCTGATGGCACATGAGGATGTGGGC
ACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGT
CCATCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGT
GATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTT
CATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCA
GCTCTCCTGTGAGGTCCATCCATCCTGATGGCACATGAGGATGTGGGCAC
AGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCC
ATCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGA
TGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCA
TGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGC
TCTCCTGTGAGGTCCATCCATCCTGATGATCCATGAGGATGTGGACACAG
CCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATC
CCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAG
GGACCATGTCCCAGCTC
 G
G
 3 a0001c0001t0001g0006
a0001c0003t0001g0171
a0002c0002t0001g0074
a0001c0001t0001g0006
a0001c0003t0001g0171
a0002c0002t0001g0074
 3 HG03540.hp1
NA21309.hp1
NA21309.hp2
HG03540.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.910+669_910+1984de
others(1): Show 
c.910+669_910+1984del
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 INFO_REALIGN_3_PRIME chrX 1637186
chrX:1637186
GTCCTGTG
others(1392): Show 
GTCCTGTGAGGTCCATCCATCCTGATGGCACATGAGGATGTGGACACAGC
CTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCC
CTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTATGATGGGGA
CAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGCTTCACGAGGA
CGTGGGCACAGCCTCTGTGTATGATGGGGACAGTGTCCCAGTGTCCTGTG
AGGTCCACCCATCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGT
GTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGA
TGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTG
TCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGG
GCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAG
GTCCATCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGT
GTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGG
TTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCC
CAGCTCTCCTGTGAGGTCCATCCATCCTGATGGCACATGAGGATGTGGGC
ACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGT
CCATCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGT
GATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTT
CATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCA
GCTCTCCTGTGAGGTCCATCCATCCTGATGGCACATGAGGATGTGGGCAC
AGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCC
ATCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGA
TGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCA
TGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGC
TCTCCTGTGAGGTCCATCCATCCTGATGATCCATGAGGATGTGGACACAG
CCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATC
CCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAG
GGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGGCACATG
AGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTC
 G
G
 1 a0001c0003t0001g0022
a0001c0003t0001g0022
 1 NA18906.hp1
NA18906.hp1
 intron_variant MODIFIER c.910+641_910+2039de
others(1): Show 
c.910+641_910+2039del
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 INFO_REALIGN_3_PRIME chrX 1637186
chrX:1637186
GTCCTGTG
others(2132): Show 
GTCCTGTGAGGTCCATCCATCCTGATGGCACATGAGGATGTGGACACAGC
CTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCC
CTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTATGATGGGGA
CAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGCTTCACGAGGA
CGTGGGCACAGCCTCTGTGTATGATGGGGACAGTGTCCCAGTGTCCTGTG
AGGTCCACCCATCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGT
GTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGA
TGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTG
TCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGG
GCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAG
GTCCATCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGT
GTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGG
TTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCC
CAGCTCTCCTGTGAGGTCCATCCATCCTGATGGCACATGAGGATGTGGGC
ACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGT
CCATCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGT
GATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTT
CATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCA
GCTCTCCTGTGAGGTCCATCCATCCTGATGGCACATGAGGATGTGGGCAC
AGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCC
ATCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGA
TGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCA
TGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGC
TCTCCTGTGAGGTCCATCCATCCTGATGATCCATGAGGATGTGGACACAG
CCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATC
CCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAG
GGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGGCACATG
AGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTC
TCCTGTGAGGTCCACCCATCCTGATGCTTCACGAGGACGTGGGCACAGCC
TCTGTGTATGATGGGGACAGTGTCCCAGTGTCCTGTGAGGTCCATCCATC
CTGATGGCACATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGAC
AGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGAT
GTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTG
TGAGGTCCACCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGT
GTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCATCCTG
ATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCAT
GTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGATCCATGAGGATGT
GGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGA
GATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTG
TGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGAT
GATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGT
CCCAGTGTCCTGTGAGATCCATCCATCCTGATGGTTCATGAGGATGTGGG
CACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTC
 G
G
 4 a0001c0001t0001g0024
a0002c0002t0001g0015
a0002c0002t0001g0042
others(1): Show 
a0001c0001t0001g0024
a0002c0002t0001g0015
a0002c0002t0001g0042
a0002c0002t0001g0129
 4 HG02896.hp2
HG03239.hp1
HG03831.hp1
others(1): Show 
HG02896.hp2
HG03239.hp1
HG03831.hp1
NA18942.hp2
 intron_variant MODIFIER c.910+669_910+2807de
others(1): Show 
c.910+669_910+2807del
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 INFO_REALIGN_3_PRIME chrX 1637186
chrX:1637186
GTCCTGTG
others(3285): Show 
GTCCTGTGAGGTCCATCCATCCTGATGGCACATGAGGATGTGGACACAGC
CTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCC
CTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTATGATGGGGA
CAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGCTTCACGAGGA
CGTGGGCACAGCCTCTGTGTATGATGGGGACAGTGTCCCAGTGTCCTGTG
AGGTCCACCCATCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGT
GTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGA
TGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTG
TCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGG
GCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAG
GTCCATCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGT
GTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGG
TTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCC
CAGCTCTCCTGTGAGGTCCATCCATCCTGATGGCACATGAGGATGTGGGC
ACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGT
CCATCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGT
GATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTT
CATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCA
GCTCTCCTGTGAGGTCCATCCATCCTGATGGCACATGAGGATGTGGGCAC
AGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCC
ATCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGA
TGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCA
TGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGC
TCTCCTGTGAGGTCCATCCATCCTGATGATCCATGAGGATGTGGACACAG
CCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATC
CCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAG
GGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGGCACATG
AGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTC
TCCTGTGAGGTCCACCCATCCTGATGCTTCACGAGGACGTGGGCACAGCC
TCTGTGTATGATGGGGACAGTGTCCCAGTGTCCTGTGAGGTCCATCCATC
CTGATGGCACATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGAC
AGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGAT
GTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTG
TGAGGTCCACCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGT
GTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCATCCTG
ATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCAT
GTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGATCCATGAGGATGT
GGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGA
GATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTG
TGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGAT
GATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGT
CCCAGTGTCCTGTGAGATCCATCCATCCTGATGGTTCATGAGGATGTGGG
CACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGG
TCCATCCATCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTG
AGATAAGGACTGTGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGC
TTCACGAGGACGTGGGCACAGCCTCTGTGTATGATGGGGACAGTGTCCCA
GTGTCCTGTGAGGTCCATCCATCCTGATGGCACATGAGGATGTGGACACA
GCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCAT
CCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATA
GGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCAT
GAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTG
TCCTGTGAGATCCATCCATCCTGATGGCACATGAGGATGTGGGCACAGCC
TCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCC
ATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGG
GACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAG
GATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTC
CTGTGAGGTCCACCCATCCTGATGATCCATGAGGATGTGGACACAGCCTC
TGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCATC
CTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGAC
CATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATGAGGA
TGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTG
TGAGGTCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGT
GTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCT
GATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAG
TGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGT
GGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTC
 G
G
 3 a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0124
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0124
 3 HG01361.hp1
HG01516.hp1
HG01517.hp1
HG01361.hp1
HG01516.hp1
HG01517.hp1
 intron_variant MODIFIER c.910+641_911-2311de
others(1): Show 
c.910+641_911-2311del
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 INFO_REALIGN_3_PRIME chrX 1637186
chrX:1637196
G
G
 A
A
 3 a0001c0001t0002g0135
a0001c0001t0002g0164
a0002c0002t0001g0018
a0001c0001t0002g0135
a0001c0001t0002g0164
a0002c0002t0001g0018
 3 HG02602.hp2
HG02615.hp2
HG03834.hp1
HG02602.hp2
HG02615.hp2
HG03834.hp1
 intron_variant MODIFIER c.910+636G>A
c.910+636G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1637196
chrX:1637196
GTCCATCC
others(400): Show 
GTCCATCCATCCTGATGGCACATGAGGATGTGGACACAGCCTCTGTGTGT
GTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGG
TTCATGAGGATGTGGGCACAGCCTCTGTGTATGATGGGGACAGTGTCCCA
GTGTCCTGTGAGATCCATCCCTCCTGATGCTTCACGAGGACGTGGGCACA
GCCTCTGTGTATGATGGGGACAGTGTCCCAGTGTCCTGTGAGGTCCACCC
ATCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGG
GACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGATCCATGA
GGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTC
CTGTGAGA
 G
G
 1 a0001c0001t0003g0090
a0001c0001t0003g0090
 1 HG02818.hp2
HG02818.hp2
 intron_variant MODIFIER c.910+644_910+1050de
others(1): Show 
c.910+644_910+1050del
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 INFO_REALIGN_3_PRIME chrX 1637196
chrX:1637196
GTCCATCC
others(2872): Show 
GTCCATCCATCCTGATGGCACATGAGGATGTGGACACAGCCTCTGTGTGT
GTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGG
TTCATGAGGATGTGGGCACAGCCTCTGTGTATGATGGGGACAGTGTCCCA
GTGTCCTGTGAGATCCATCCCTCCTGATGCTTCACGAGGACGTGGGCACA
GCCTCTGTGTATGATGGGGACAGTGTCCCAGTGTCCTGTGAGGTCCACCC
ATCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGG
GACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGATCCATGA
GGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTC
CTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTC
TGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCAT
CCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGA
CAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGA
TGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCT
GTGAGGTCCATCCATCCTGATGGCACATGAGGATGTGGGCACAGCCTCTG
TGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCC
TGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACA
GTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATG
TGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGT
GAGGTCCATCCATCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGTG
TGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTG
ATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGT
GTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTG
GGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGA
GGTCCATCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTG
TGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATG
GTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTC
CCAGCTCTCCTGTGAGGTCCATCCATCCTGATGGCACATGAGGATGTGGG
CACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGG
TCCACCCATCCTGATGCTTCACGAGGACGTGGGCACAGCCTCTGTGTATG
ATGGGGACAGTGTCCCAGTGTCCTGTGAGGTCCATCCATCCTGATGGCAC
ATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAG
TGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAG
CCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCAC
CCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATG
GGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCATCCTGATGGCACATG
AGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTC
TCCTGTGAGGTCCATCCATCCTGATGATCCATGAGGATGTGGACACAGCC
TCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCC
TCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGG
ACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATGAG
GATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCC
TGTGAGATCCATCCATCCTGATGGTTCATGAGGATGTGGGCACAGCCTCT
GTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATC
CTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAAGGAC
TGTGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGCTTCACGAGGA
CGTGGGCACAGCCTCTGTGTATGATGGGGACAGTGTCCCAGTGTCCTGTG
AGGTCCATCCATCCTGATGGCACATGAGGATGTGGACACAGCCTCTGTGT
GTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGAT
GGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGT
CCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATGAGGATGTGG
ACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGA
TCCATCCATCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTG
AGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGA
TCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCC
CAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCA
CAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTC
CACCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTG
ATGGGGACAGTGTCCCAGTGTCCTGTGAGA
 G
G
 1 a0001c0001t0001g0005
a0001c0001t0001g0005
 1 NA18980.hp2
NA18980.hp2
 intron_variant MODIFIER c.910+669_911-2696de
others(1): Show 
c.910+669_911-2696del
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 INFO_REALIGN_3_PRIME chrX 1637196
chrX:1637196
GTCCATCC
others(3695): Show 
GTCCATCCATCCTGATGGCACATGAGGATGTGGACACAGCCTCTGTGTGT
GTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGG
TTCATGAGGATGTGGGCACAGCCTCTGTGTATGATGGGGACAGTGTCCCA
GTGTCCTGTGAGATCCATCCCTCCTGATGCTTCACGAGGACGTGGGCACA
GCCTCTGTGTATGATGGGGACAGTGTCCCAGTGTCCTGTGAGGTCCACCC
ATCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGG
GACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGATCCATGA
GGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTC
CTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTC
TGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCAT
CCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGA
CAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGA
TGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCT
GTGAGGTCCATCCATCCTGATGGCACATGAGGATGTGGGCACAGCCTCTG
TGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCC
TGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACA
GTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATG
TGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGT
GAGGTCCATCCATCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGTG
TGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTG
ATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGT
GTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTG
GGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGA
GGTCCATCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTG
TGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATG
GTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTC
CCAGCTCTCCTGTGAGGTCCATCCATCCTGATGGCACATGAGGATGTGGG
CACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGG
TCCACCCATCCTGATGCTTCACGAGGACGTGGGCACAGCCTCTGTGTATG
ATGGGGACAGTGTCCCAGTGTCCTGTGAGGTCCATCCATCCTGATGGCAC
ATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAG
TGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAG
CCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCAC
CCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATG
GGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCATCCTGATGGCACATG
AGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTC
TCCTGTGAGGTCCATCCATCCTGATGATCCATGAGGATGTGGACACAGCC
TCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCC
TCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGG
ACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATGAG
GATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCC
TGTGAGATCCATCCATCCTGATGGTTCATGAGGATGTGGGCACAGCCTCT
GTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATC
CTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAAGGAC
TGTGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGCTTCACGAGGA
CGTGGGCACAGCCTCTGTGTATGATGGGGACAGTGTCCCAGTGTCCTGTG
AGGTCCATCCATCCTGATGGCACATGAGGATGTGGACACAGCCTCTGTGT
GTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGAT
GGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGT
CCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATGAGGATGTGG
ACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGA
TCCATCCATCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTG
AGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGA
TCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCC
CAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCA
CAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTC
CACCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTG
ATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCATCCTGATGGCAC
ATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAG
CTCTCCTGTGAGGTCCACCCATCCTGATGATCCATGAGGATGTGGACACA
GCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGGTCCAT
CCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATA
GGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCAT
GAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTG
TCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCC
TCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCC
ATCCTGATGCTTCATGAGGACGTGGGCACAGCCTCTGTGTATGATGGGGA
CAGTGTCCCAGTGTCCTGTGAGATCCATCCATCCTGATGGCACATGAGGA
TGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCT
GTGAGGTCCATCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTG
TGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCT
GATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCA
TGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATGAGGATG
TGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTG
AGA
 G
G
 2 a0002c0002t0001g0085
a0002c0002t0002g0207
a0002c0002t0001g0085
a0002c0002t0002g0207
 2 NA18947.hp2
NA18999.hp2
NA18947.hp2
NA18999.hp2
 intron_variant MODIFIER c.910+669_911-1873de
others(1): Show 
c.910+669_911-1873del
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 INFO_REALIGN_3_PRIME chrX 1637196
chrX:1637201
TCCATCCT
others(1392): Show 
TCCATCCTGATGGCACATGAGGATGTGGACACAGCCTCTGTGTGTGTGAT
GGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCAT
GAGGATGTGGGCACAGCCTCTGTGTATGATGGGGACAGTGTCCCAGTGTC
CTGTGAGATCCATCCCTCCTGATGCTTCACGAGGACGTGGGCACAGCCTC
TGTGTATGATGGGGACAGTGTCCCAGTGTCCTGTGAGGTCCACCCATCCT
GATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCA
TGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGATCCATGAGGATG
TGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTG
AGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGT
GTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGA
TGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTG
TCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGG
GCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAG
GTCCATCCATCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGT
GAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATG
ATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTC
CCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGC
ACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGT
CCATCCATCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTGA
GATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGAT
CCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCC
AGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCAC
AGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCC
ATCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGA
TGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCA
TGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGC
TCTCCTGTGAGGTCCATCCATCCTGATGGCACATGAGGATGTGGGCACAG
CCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCAC
 T
T
 1 a0002c0002t0001g0009
a0002c0002t0001g0009
 1 HG02886.hp1
HG02886.hp1
 intron_variant MODIFIER c.910+653_910+2051de
others(1): Show 
c.910+653_910+2051del
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 INFO_REALIGN_3_PRIME chrX 1637201
chrX:1637204
A
A
 C
C
 1 a0001c0001t0001g0082
a0001c0001t0001g0082
 1 HG01257.hp2
HG01257.hp2
 intron_variant MODIFIER c.910+644A>C
c.910+644A>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1637204
chrX:1637210
ATGGCACA
others(1306): Show 
ATGGCACATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGT
GTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTG
GGCACAGCCTCTGTGTATGATGGGGACAGTGTCCCAGTGTCCTGTGAGAT
CCATCCCTCCTGATGCTTCACGAGGACGTGGGCACAGCCTCTGTGTATGA
TGGGGACAGTGTCCCAGTGTCCTGTGAGGTCCACCCATCCTGATGGCACA
TGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGC
TCTCCTGTGAGGTCCATCCATCCTGATGATCCATGAGGATGTGGACACAG
CCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATC
CCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAG
GGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGATCCATG
AGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGT
CCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCT
CTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCA
TCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGG
ACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGATCCATGAG
GATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCC
TGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCT
GTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATC
CTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGAC
CATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGATCCATGAGGA
TGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTG
TGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGT
GTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCT
GATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAG
TGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGT
GGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTG
AGGTCCATCCATCC
 A
A
 1 a0001c0001t0001g0083
a0001c0001t0001g0083
 1 HG02257.hp2
HG02257.hp2
 intron_variant MODIFIER c.910+653_910+1965de
others(1): Show 
c.910+653_910+1965del
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 INFO_REALIGN_3_PRIME chrX 1637210
chrX:1637214
C
C
 T
T
 1 a0002c0002t0002g0217
a0002c0002t0002g0217
 1 HG01175.hp2
HG01175.hp2
 intron_variant MODIFIER c.910+654C>T
c.910+654C>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1637214
chrX:1637215
A
A
 T
T
 1 a0002c0002t0002g0217
a0002c0002t0002g0217
 1 HG01175.hp2
HG01175.hp2
 intron_variant MODIFIER c.910+655A>T
c.910+655A>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1637215
chrX:1637215
ACATGAGG
others(75): Show 
ACATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCC
AGTGTCCTGTGAGATCCATCCCTCCTGATGGTT
 A
A
 1 a0001c0001t0002g0135
a0001c0001t0002g0135
 1 HG02615.hp2
HG02615.hp2
 intron_variant MODIFIER c.910+669_910+750del
others(82): Show 
c.910+669_910+750delACACAGCCTCTGTGTGTGTGATGGGGACAG
TGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGT
GG
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 INFO_REALIGN_3_PRIME chrX 1637215
chrX:1637215
ACATGAGG
others(2049): Show 
ACATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCC
AGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCAC
AGCCTCTGTGTATGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATC
CCTCCTGATGCTTCACGAGGACGTGGGCACAGCCTCTGTGTATGATGGGG
ACAGTGTCCCAGTGTCCTGTGAGGTCCACCCATCCTGATGGCACATGAGG
ATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCC
TGTGAGGTCCATCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCT
GTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCC
TGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACC
ATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGATCCATGAGGAT
GTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGT
GAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTG
TGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTG
ATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCAT
GTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGATCCATGAGGATGT
GGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGA
GATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTG
TGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGAT
GGCACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGT
CCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGATCCATGAGGATGTGG
ACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGA
TCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTG
AGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGA
TCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCC
CAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCA
CAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTC
CATCCATCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTGAG
ATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGCTT
CACGAGGACGTGGGCACAGCCTCTGTGTATGATGGGGACAGTGTCCCAGT
GTCCTGTGAGGTCCATCCATCCTGATGGCACATGAGGATGTGGACACAGC
CTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCC
CTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGG
GACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATGA
GGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTC
CTGTGAGATCCATCCATCCTGATGGCACATGAGGATGTGGGCACAGCCTC
TGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCAT
CCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGA
CAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGA
TGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCT
GTGAGGTCCACCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTG
TGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCATCCT
GATGGTT
 A
A
 2 a0001c0001t0001g0041
a0002c0002t0002g0199
a0001c0001t0001g0041
a0002c0002t0002g0199
 2 HG01516.hp2
NA18973.hp1
HG01516.hp2
NA18973.hp1
 intron_variant MODIFIER c.910+669_910+2724de
others(1): Show 
c.910+669_910+2724del
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 INFO_REALIGN_3_PRIME chrX 1637215
chrX:1637215
ACATGAGG
others(2625): Show 
ACATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCC
AGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCAC
AGCCTCTGTGTATGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATC
CCTCCTGATGCTTCACGAGGACGTGGGCACAGCCTCTGTGTATGATGGGG
ACAGTGTCCCAGTGTCCTGTGAGGTCCACCCATCCTGATGGCACATGAGG
ATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCC
TGTGAGGTCCATCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCT
GTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCC
TGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACC
ATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGATCCATGAGGAT
GTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGT
GAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTG
TGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTG
ATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCAT
GTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGATCCATGAGGATGT
GGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGA
GATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTG
TGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGAT
GGCACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGT
CCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGATCCATGAGGATGTGG
ACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGA
TCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTG
AGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGA
TCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCC
CAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCA
CAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTC
CATCCATCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTGAG
ATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGCTT
CACGAGGACGTGGGCACAGCCTCTGTGTATGATGGGGACAGTGTCCCAGT
GTCCTGTGAGGTCCATCCATCCTGATGGCACATGAGGATGTGGACACAGC
CTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCC
CTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGG
GACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATGA
GGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTC
CTGTGAGATCCATCCATCCTGATGGCACATGAGGATGTGGGCACAGCCTC
TGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCAT
CCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGA
CAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGA
TGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCT
GTGAGGTCCACCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTG
TGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCATCCT
GATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCA
TGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGGCACATGAGGATG
TGGGCACAGCCTCTGTGTGTGAGATAAGGACTGTGTCCCAGCTCTCCTGT
GAGGTCCACCCATCCTGATGCTTCACGAGGACGTGGGCACAGCCTCTGTG
TATGATGGGGACAGTGTCCCAGTGTCCTGTGAGGTCCATCCATCCTGATG
GCACATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTC
CCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGC
ACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGT
CCACCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGT
GATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCATCCTGATGGCA
CATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCA
GCTCTCCTGTGAGGTCCATCCATCCTGATGATC
 A
A
 2 a0002c0002t0002g0154
a0004c0004t0004g0148
a0002c0002t0002g0154
a0004c0004t0004g0148
 2 HG00639.hp2
HG03831.hp2
HG00639.hp2
HG03831.hp2
 intron_variant MODIFIER c.910+766_911-2846de
others(1): Show 
c.910+766_911-2846del
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 INFO_REALIGN_3_PRIME chrX 1637215
chrX:1637215
ACATGAGG
others(3037): Show 
ACATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCC
AGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCAC
AGCCTCTGTGTATGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATC
CCTCCTGATGCTTCACGAGGACGTGGGCACAGCCTCTGTGTATGATGGGG
ACAGTGTCCCAGTGTCCTGTGAGGTCCACCCATCCTGATGGCACATGAGG
ATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCC
TGTGAGGTCCATCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCT
GTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCC
TGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACC
ATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGATCCATGAGGAT
GTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGT
GAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTG
TGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTG
ATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCAT
GTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGATCCATGAGGATGT
GGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGA
GATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTG
TGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGAT
GGCACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGT
CCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGATCCATGAGGATGTGG
ACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGA
TCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTG
AGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGA
TCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCC
CAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCA
CAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTC
CATCCATCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTGAG
ATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGCTT
CACGAGGACGTGGGCACAGCCTCTGTGTATGATGGGGACAGTGTCCCAGT
GTCCTGTGAGGTCCATCCATCCTGATGGCACATGAGGATGTGGACACAGC
CTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCC
CTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGG
GACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATGA
GGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTC
CTGTGAGATCCATCCATCCTGATGGCACATGAGGATGTGGGCACAGCCTC
TGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCAT
CCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGA
CAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGA
TGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCT
GTGAGGTCCACCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTG
TGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCATCCT
GATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCA
TGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGGCACATGAGGATG
TGGGCACAGCCTCTGTGTGTGAGATAAGGACTGTGTCCCAGCTCTCCTGT
GAGGTCCACCCATCCTGATGCTTCACGAGGACGTGGGCACAGCCTCTGTG
TATGATGGGGACAGTGTCCCAGTGTCCTGTGAGGTCCATCCATCCTGATG
GCACATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTC
CCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGC
ACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGT
CCACCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGT
GATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCATCCTGATGGCA
CATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCA
GCTCTCCTGTGAGGTCCATCCATCCTGATGATCCATGAGGATGTGGACAC
AGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCA
TCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGAT
AGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCA
TGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGT
GTCCTGTGAGATCCATCCATCCTGATGGCACATGAGGATGTGGGCACAGC
CTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACC
CATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGG
GGACAGTGTCCCAGTGTCCTGTGAGGTCCATCCCTCCTGATGGTT
 A
A
 1 a0012c0007t0001g0036
a0012c0007t0001g0036
 1 NA19082.hp1
NA19082.hp1
 intron_variant MODIFIER c.910+669_911-2531de
others(1): Show 
c.910+669_911-2531del
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 INFO_REALIGN_3_PRIME chrX 1637215
chrX:1637215
ACATGAGG
others(3202): Show 
ACATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCC
AGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCAC
AGCCTCTGTGTATGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATC
CCTCCTGATGCTTCACGAGGACGTGGGCACAGCCTCTGTGTATGATGGGG
ACAGTGTCCCAGTGTCCTGTGAGGTCCACCCATCCTGATGGCACATGAGG
ATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCC
TGTGAGGTCCATCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCT
GTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCC
TGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACC
ATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGATCCATGAGGAT
GTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGT
GAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTG
TGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTG
ATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCAT
GTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGATCCATGAGGATGT
GGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGA
GATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTG
TGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGAT
GGCACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGT
CCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGATCCATGAGGATGTGG
ACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGA
TCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTG
AGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGA
TCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCC
CAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCA
CAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTC
CATCCATCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTGAG
ATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGCTT
CACGAGGACGTGGGCACAGCCTCTGTGTATGATGGGGACAGTGTCCCAGT
GTCCTGTGAGGTCCATCCATCCTGATGGCACATGAGGATGTGGACACAGC
CTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCC
CTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGG
GACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATGA
GGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTC
CTGTGAGATCCATCCATCCTGATGGCACATGAGGATGTGGGCACAGCCTC
TGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCAT
CCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGA
CAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGA
TGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCT
GTGAGGTCCACCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTG
TGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCATCCT
GATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCA
TGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGGCACATGAGGATG
TGGGCACAGCCTCTGTGTGTGAGATAAGGACTGTGTCCCAGCTCTCCTGT
GAGGTCCACCCATCCTGATGCTTCACGAGGACGTGGGCACAGCCTCTGTG
TATGATGGGGACAGTGTCCCAGTGTCCTGTGAGGTCCATCCATCCTGATG
GCACATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTC
CCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGC
ACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGT
CCACCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGT
GATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCATCCTGATGGCA
CATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCA
GCTCTCCTGTGAGGTCCATCCATCCTGATGATCCATGAGGATGTGGACAC
AGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCA
TCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGAT
AGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCA
TGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGT
GTCCTGTGAGATCCATCCATCCTGATGGCACATGAGGATGTGGGCACAGC
CTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACC
CATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGG
GGACAGTGTCCCAGTGTCCTGTGAGGTCCATCCCTCCTGATGGTTCATGA
GGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCT
CCTGTGAGGTCCACCCATCCTGATGATCCATGAGGATGTGGACACAGCCT
CTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCT
CCTGATGGTT
 A
A
 6 a0001c0001t0001g0100
a0001c0001t0001g0102
a0001c0001t0001g0103
others(3): Show 
a0001c0001t0001g0100
a0001c0001t0001g0102
a0001c0001t0001g0103
a0001c0001t0001g0192
a0001c0001t0001g0194
a0008c0013t0001g0101
 6 NA18939.hp1
NA18951.hp2
NA18956.hp2
others(3): Show 
NA18939.hp1
NA18951.hp2
NA18956.hp2
NA19002.hp1
NA19010.hp1
NA19074.hp2
 intron_variant MODIFIER c.910+669_911-2366de
others(1): Show 
c.910+669_911-2366del
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 INFO_REALIGN_3_PRIME chrX 1637215
chrX:1637215
ACATGAGG
others(3448): Show 
ACATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCC
AGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCAC
AGCCTCTGTGTATGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATC
CCTCCTGATGCTTCACGAGGACGTGGGCACAGCCTCTGTGTATGATGGGG
ACAGTGTCCCAGTGTCCTGTGAGGTCCACCCATCCTGATGGCACATGAGG
ATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCC
TGTGAGGTCCATCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCT
GTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCC
TGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACC
ATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGATCCATGAGGAT
GTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGT
GAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTG
TGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTG
ATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCAT
GTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGATCCATGAGGATGT
GGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGA
GATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTG
TGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGAT
GGCACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGT
CCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGATCCATGAGGATGTGG
ACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGA
TCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTG
AGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGA
TCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCC
CAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCA
CAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTC
CATCCATCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTGAG
ATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGCTT
CACGAGGACGTGGGCACAGCCTCTGTGTATGATGGGGACAGTGTCCCAGT
GTCCTGTGAGGTCCATCCATCCTGATGGCACATGAGGATGTGGACACAGC
CTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCC
CTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGG
GACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATGA
GGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTC
CTGTGAGATCCATCCATCCTGATGGCACATGAGGATGTGGGCACAGCCTC
TGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCAT
CCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGA
CAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGA
TGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCT
GTGAGGTCCACCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTG
TGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCATCCT
GATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCA
TGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGGCACATGAGGATG
TGGGCACAGCCTCTGTGTGTGAGATAAGGACTGTGTCCCAGCTCTCCTGT
GAGGTCCACCCATCCTGATGCTTCACGAGGACGTGGGCACAGCCTCTGTG
TATGATGGGGACAGTGTCCCAGTGTCCTGTGAGGTCCATCCATCCTGATG
GCACATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTC
CCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGC
ACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGT
CCACCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGT
GATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCATCCTGATGGCA
CATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCA
GCTCTCCTGTGAGGTCCATCCATCCTGATGATCCATGAGGATGTGGACAC
AGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCA
TCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGAT
AGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCA
TGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGT
GTCCTGTGAGATCCATCCATCCTGATGGCACATGAGGATGTGGGCACAGC
CTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACC
CATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGG
GGACAGTGTCCCAGTGTCCTGTGAGGTCCATCCCTCCTGATGGTTCATGA
GGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCT
CCTGTGAGGTCCACCCATCCTGATGATCCATGAGGATGTGGACACAGCCT
CTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCT
CCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGA
CCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGCTTCATGAGG
ACGTGGGCACAGCCTCTGTGTATGATGGGGACAGTGTCCCAGTGTCCTGT
GAGATCCATCCATCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGTG
TGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTG
ATGATC
 A
A
 6 a0001c0001t0001g0027
a0001c0001t0001g0037
a0001c0001t0002g0141
others(3): Show 
a0001c0001t0001g0027
a0001c0001t0001g0037
a0001c0001t0002g0141
a0001c0001t0002g0153
a0001c0001t0002g0180
a0002c0002t0001g0031
 6 HG01496.hp2
HG01978.hp1
HG01981.hp2
others(3): Show 
HG01496.hp2
HG01978.hp1
HG01981.hp2
HG02004.hp1
HG02148.hp1
HG03491.hp2
 intron_variant MODIFIER c.910+766_911-2023de
others(1): Show 
c.910+766_911-2023del
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 INFO_REALIGN_3_PRIME chrX 1637215
chrX:1637215
ACATGAGG
others(3860): Show 
ACATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCC
AGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCAC
AGCCTCTGTGTATGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATC
CCTCCTGATGCTTCACGAGGACGTGGGCACAGCCTCTGTGTATGATGGGG
ACAGTGTCCCAGTGTCCTGTGAGGTCCACCCATCCTGATGGCACATGAGG
ATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCC
TGTGAGGTCCATCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCT
GTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCC
TGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACC
ATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGATCCATGAGGAT
GTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGT
GAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTG
TGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTG
ATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCAT
GTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGATCCATGAGGATGT
GGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGA
GATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTG
TGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGAT
GGCACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGT
CCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGATCCATGAGGATGTGG
ACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGA
TCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTG
AGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGA
TCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCC
CAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCA
CAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTC
CATCCATCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTGAG
ATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGCTT
CACGAGGACGTGGGCACAGCCTCTGTGTATGATGGGGACAGTGTCCCAGT
GTCCTGTGAGGTCCATCCATCCTGATGGCACATGAGGATGTGGACACAGC
CTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCC
CTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGG
GACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATGA
GGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTC
CTGTGAGATCCATCCATCCTGATGGCACATGAGGATGTGGGCACAGCCTC
TGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCAT
CCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGA
CAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGA
TGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCT
GTGAGGTCCACCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTG
TGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCATCCT
GATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCA
TGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGGCACATGAGGATG
TGGGCACAGCCTCTGTGTGTGAGATAAGGACTGTGTCCCAGCTCTCCTGT
GAGGTCCACCCATCCTGATGCTTCACGAGGACGTGGGCACAGCCTCTGTG
TATGATGGGGACAGTGTCCCAGTGTCCTGTGAGGTCCATCCATCCTGATG
GCACATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTC
CCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGC
ACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGT
CCACCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGT
GATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCATCCTGATGGCA
CATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCA
GCTCTCCTGTGAGGTCCATCCATCCTGATGATCCATGAGGATGTGGACAC
AGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCA
TCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGAT
AGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCA
TGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGT
GTCCTGTGAGATCCATCCATCCTGATGGCACATGAGGATGTGGGCACAGC
CTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACC
CATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGG
GGACAGTGTCCCAGTGTCCTGTGAGGTCCATCCCTCCTGATGGTTCATGA
GGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCT
CCTGTGAGGTCCACCCATCCTGATGATCCATGAGGATGTGGACACAGCCT
CTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCT
CCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGA
CCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGCTTCATGAGG
ACGTGGGCACAGCCTCTGTGTATGATGGGGACAGTGTCCCAGTGTCCTGT
GAGATCCATCCATCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGTG
TGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTG
ATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGT
GTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTG
GGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGA
GGTCCACCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTG
TGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCATCCTGATG
GCACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTC
CCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATGAGGATGTGGA
CACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGGT
CCATCCCTCCTGATGGTT
 A
A
 7 a0001c0001t0001g0049
a0001c0001t0001g0082
a0001c0001t0001g0110
others(4): Show 
a0001c0001t0001g0049
a0001c0001t0001g0082
a0001c0001t0001g0110
a0001c0003t0002g0173
a0002c0002t0001g0095
a0002c0002t0002g0096
a0002c0002t0002g0213
 7 HG00423.hp2
HG01257.hp2
HG02155.hp2
others(4): Show 
HG00423.hp2
HG01257.hp2
HG02155.hp2
HG02165.hp2
NA18975.hp1
NA18981.hp1
NA19080.hp1
 intron_variant MODIFIER c.910+669_911-1708de
others(1): Show 
c.910+669_911-1708del
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 INFO_REALIGN_3_PRIME chrX 1637215
chrX:1637229
A
A
 G
G
 3 a0001c0001t0002g0164
a0002c0002t0001g0018
a0002c0002t0002g0217
a0001c0001t0002g0164
a0002c0002t0001g0018
a0002c0002t0002g0217
 3 HG01175.hp2
HG02602.hp2
HG03834.hp1
HG01175.hp2
HG02602.hp2
HG03834.hp1
 intron_variant MODIFIER c.910+669A>G
c.910+669A>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1637229
chrX:1637229
ACACAGCC
others(3530): Show 
ACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGA
TCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTATG
ATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGCTTC
ACGAGGACGTGGGCACAGCCTCTGTGTATGATGGGGACAGTGTCCCAGTG
TCCTGTGAGGTCCACCCATCCTGATGGCACATGAGGATGTGGGCACAGCC
TCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCC
ATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGG
GACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAG
GATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTC
CTGTGAGGTCCATCCATCCTGATGATCCATGAGGATGTGGACACAGCCTC
TGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTC
CTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGAC
CATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGGCACATGAGGA
TGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCT
GTGAGGTCCATCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTG
TGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCT
GATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCA
TGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGGCACATGAGGATG
TGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGT
GAGGTCCATCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTG
TGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGA
TGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATG
TCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGATCCATGAGGATGTG
GACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAG
ATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGT
GAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATG
GCACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTC
CCAGCTCTCCTGTGAGGTCCACCCATCCTGATGCTTCACGAGGACGTGGG
CACAGCCTCTGTGTATGATGGGGACAGTGTCCCAGTGTCCTGTGAGGTCC
ATCCATCCTGATGGCACATGAGGATGTGGACACAGCCTCTGTGTGTGTGA
TGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCA
TGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGC
TCTCCTGTGAGGTCCACCCATCCTGATGATCCATGAGGATGTGGACACAG
CCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATC
CATCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAG
GGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGATCCATG
AGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGT
CCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCT
CTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCA
TCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGG
ACAGTGTCCCAGTGTCCTGTGAGATCCATCCATCCTGATGGTTCATGAGG
ATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCC
TGTGAGGTCCATCCATCCTGATGGCACATGAGGATGTGGGCACAGCCTCT
GTGTGTGAGATAAGGACTGTGTCCCAGCTCTCCTGTGAGGTCCACCCATC
CTGATGCTTCACGAGGACGTGGGCACAGCCTCTGTGTATGATGGGGACAG
TGTCCCAGTGTCCTGTGAGGTCCATCCATCCTGATGGCACATGAGGATGT
GGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGA
GATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTG
TGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGAT
GATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGT
CCCAGTGTCCTGTGAGATCCATCCATCCTGATGGCACATGAGGATGTGGG
CACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGG
TCCATCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTG
TGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGT
TCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCC
AGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATGAGGATGTGGACA
CAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCC
ATCCATCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGA
TAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCC
ATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAG
TGTCCTGTGAGGTCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAG
CCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCAC
CCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATG
GGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATG
AGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTC
TCCTGTGAGGTCCACCCATCCTGATGCTTCATGAGGACGTGGGCACAGCC
TCTGTGTATGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCATC
CTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGAC
CATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGATCCATGAGGA
TGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTG
TGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGG
 A
A
 1 a0002c0002t0001g0098
a0002c0002t0001g0098
 1 HG01346.hp1
HG01346.hp1
 intron_variant MODIFIER c.910+687_911-2020de
others(1): Show 
c.910+687_911-2020del
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 INFO_REALIGN_3_PRIME chrX 1637229
chrX:1637247
T
T
 A
A
 2 a0001c0001t0002g0164
a0002c0002t0001g0018
a0001c0001t0002g0164
a0002c0002t0001g0018
 2 HG02602.hp2
HG03834.hp1
HG02602.hp2
HG03834.hp1
 intron_variant MODIFIER c.910+687T>A
c.910+687T>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1637247
chrX:1637251
G
G
 A
A
 2 a0001c0001t0002g0164
a0002c0002t0001g0018
a0001c0001t0002g0164
a0002c0002t0001g0018
 2 HG02602.hp2
HG03834.hp1
HG02602.hp2
HG03834.hp1
 intron_variant MODIFIER c.910+691G>A
c.910+691G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1637251
chrX:1637257
A
A
 C
C
 2 a0001c0001t0002g0164
a0002c0002t0001g0018
a0001c0001t0002g0164
a0002c0002t0001g0018
 2 HG02602.hp2
HG03834.hp1
HG02602.hp2
HG03834.hp1
 intron_variant MODIFIER c.910+697A>C
c.910+697A>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1637257
chrX:1637258
G
G
 A
A
 2 a0001c0001t0002g0164
a0002c0002t0001g0018
a0001c0001t0002g0164
a0002c0002t0001g0018
 2 HG02602.hp2
HG03834.hp1
HG02602.hp2
HG03834.hp1
 intron_variant MODIFIER c.910+698G>A
c.910+698G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1637258
chrX:1637278
A
A
 G
G
 2 a0001c0001t0002g0168
a0002c0002t0002g0217
a0001c0001t0002g0168
a0002c0002t0002g0217
 2 HG00639.hp1
HG01175.hp2
HG00639.hp1
HG01175.hp2
 intron_variant MODIFIER c.910+718A>G
c.910+718A>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1637278
chrX:1637278
ATCCATCC
others(2955): Show 
ATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTAT
GATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGCTT
CACGAGGACGTGGGCACAGCCTCTGTGTATGATGGGGACAGTGTCCCAGT
GTCCTGTGAGGTCCACCCATCCTGATGGCACATGAGGATGTGGGCACAGC
CTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATC
CATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGG
GGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGA
GGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCT
CCTGTGAGGTCCATCCATCCTGATGATCCATGAGGATGTGGACACAGCCT
CTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCT
CCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGA
CCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGGCACATGAGG
ATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCC
TGTGAGGTCCATCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCT
GTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCC
TGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACC
ATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGGCACATGAGGAT
GTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTG
TGAGGTCCATCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGT
GTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTG
ATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCAT
GTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGATCCATGAGGATGT
GGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGA
GATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTG
TGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGAT
GGCACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGT
CCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGCTTCACGAGGACGTGG
GCACAGCCTCTGTGTATGATGGGGACAGTGTCCCAGTGTCCTGTGAGGTC
CATCCATCCTGATGGCACATGAGGATGTGGACACAGCCTCTGTGTGTGTG
ATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTC
ATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAG
CTCTCCTGTGAGGTCCACCCATCCTGATGATCCATGAGGATGTGGACACA
GCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCAT
CCATCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATA
GGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGATCCAT
GAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTG
TCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCC
TCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCC
ATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGG
GACAGTGTCCCAGTGTCCTGTGAGATCCATCCATCCTGATGGTTCATGAG
GATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTC
CTGTGAGGTCCATCCATCCTGATGGCACATGAGGATGTGGGCACAGCCTC
TGTGTGTGAGATAAGGACTGTGTCCCAGCTCTCCTGTGAGGTCCACCCAT
CCTGATGCTTCACGAGGACGTGGGCACAGCCTCTGTGTATGATGGGGACA
GTGTCCCAGTGTCCTGTGAGGTCCATCCATCCTGATGGCACATGAGGATG
TGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTG
AGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGT
GTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGA
TGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTG
TCCCAGTGTCCTGTGAGATCCATCCATCCTGATGGCACATGAGGATGTGG
GCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAG
GTCCATCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGT
GTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGG
TTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCC
CAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATGAGGATGTGGAC
ACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATC
CATCCATCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTGAG
ATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATC
CATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCA
GTGTCCTGTGAGG
 A
A
 2 a0001c0003t0002g0142
a0002c0002t0001g0057
a0001c0003t0002g0142
a0002c0002t0001g0057
 2 HG01361.hp2
HG03491.hp1
HG01361.hp2
HG03491.hp1
 intron_variant MODIFIER c.910+766_911-2516de
others(1): Show 
c.910+766_911-2516del
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 INFO_REALIGN_3_PRIME chrX 1637278
chrX:1637286
C
C
 A
A
 2 a0001c0001t0002g0164
a0002c0002t0001g0018
a0001c0001t0002g0164
a0002c0002t0001g0018
 2 HG02602.hp2
HG03834.hp1
HG02602.hp2
HG03834.hp1
 intron_variant MODIFIER c.910+726C>A
c.910+726C>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1637286
chrX:1637297
TCATGAGG
others(153): Show 
TCATGAGGATGTGGGCACAGCCTCTGTGTATGATGGGGACAGTGTCCCAG
TGTCCTGTGAGATCCATCCCTCCTGATGCTTCACGAGGACGTGGGCACAG
CCTCTGTGTATGATGGGGACAGTGTCCCAGTGTCCTGTGAGGTCCACCCA
TCCTGATGGCA
 T
T
 1 a0001c0001t0002g0218
a0001c0001t0002g0218
 1 HG00741.hp1
HG00741.hp1
 intron_variant MODIFIER c.910+766_910+925del
c.910+766_910+925del
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 INFO_REALIGN_3_PRIME chrX 1637297
chrX:1637297
TCATGAGG
others(814): Show 
TCATGAGGATGTGGGCACAGCCTCTGTGTATGATGGGGACAGTGTCCCAG
TGTCCTGTGAGATCCATCCCTCCTGATGCTTCACGAGGACGTGGGCACAG
CCTCTGTGTATGATGGGGACAGTGTCCCAGTGTCCTGTGAGGTCCACCCA
TCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGG
ACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGATCCATGAG
GATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCC
TGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCT
GTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATC
CTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGAC
AGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGAT
GTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTG
TGAGGTCCATCCATCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGT
GTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCT
GATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAG
TGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGT
GGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTG
AGGTCCATCCATCCTGATGGCA
 T
T
 2 a0001c0001t0002g0157
a0002c0002t0002g0191
a0001c0001t0002g0157
a0002c0002t0002g0191
 2 HG00735.hp2
HG01517.hp2
HG00735.hp2
HG01517.hp2
 intron_variant MODIFIER c.910+766_910+1586de
others(1): Show 
c.910+766_910+1586del
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 INFO_REALIGN_3_PRIME chrX 1637297
chrX:1637297
TCATGAGG
others(1227): Show 
TCATGAGGATGTGGGCACAGCCTCTGTGTATGATGGGGACAGTGTCCCAG
TGTCCTGTGAGATCCATCCCTCCTGATGCTTCACGAGGACGTGGGCACAG
CCTCTGTGTATGATGGGGACAGTGTCCCAGTGTCCTGTGAGGTCCACCCA
TCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGG
ACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGATCCATGAG
GATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCC
TGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCT
GTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATC
CTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGAC
AGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGAT
GTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTG
TGAGGTCCATCCATCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGT
GTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCT
GATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAG
TGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGT
GGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTG
AGGTCCATCCATCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGT
GTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGA
TGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTG
TCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGG
GCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAG
GTCCATCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGT
GTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGG
TTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCC
CAGCTCTCCTGTGAGGTCCATCCATCCTGATGGCA
 T
T
 2 a0002c0002t0001g0073
a0002c0002t0002g0183
a0002c0002t0001g0073
a0002c0002t0002g0183
 2 NA19003.hp1
NA20129.hp2
NA19003.hp1
NA20129.hp2
 intron_variant MODIFIER c.910+766_910+1999de
others(1): Show 
c.910+766_910+1999del
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 INFO_REALIGN_3_PRIME chrX 1637297
chrX:1637297
TCATGAGG
others(2790): Show 
TCATGAGGATGTGGGCACAGCCTCTGTGTATGATGGGGACAGTGTCCCAG
TGTCCTGTGAGATCCATCCCTCCTGATGCTTCACGAGGACGTGGGCACAG
CCTCTGTGTATGATGGGGACAGTGTCCCAGTGTCCTGTGAGGTCCACCCA
TCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGG
ACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGATCCATGAG
GATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCC
TGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCT
GTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATC
CTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGAC
AGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGAT
GTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTG
TGAGGTCCATCCATCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGT
GTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCT
GATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAG
TGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGT
GGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTG
AGGTCCATCCATCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGT
GTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGA
TGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTG
TCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGG
GCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAG
GTCCATCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGT
GTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGG
TTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCC
CAGCTCTCCTGTGAGGTCCATCCATCCTGATGGCACATGAGGATGTGGGC
ACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGT
CCACCCATCCTGATGCTTCACGAGGACGTGGGCACAGCCTCTGTGTATGA
TGGGGACAGTGTCCCAGTGTCCTGTGAGGTCCATCCATCCTGATGGCACA
TGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGT
GTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGC
CTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACC
CATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGG
GGACAGTGTCCCAGTGTCCTGTGAGATCCATCCATCCTGATGGCACATGA
GGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCT
CCTGTGAGGTCCATCCATCCTGATGATCCATGAGGATGTGGACACAGCCT
CTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCT
CCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGA
CCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATGAGG
ATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCT
GTGAGATCCATCCATCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTG
TGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCC
TGATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAAGGACT
GTGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGCTTCACGAGGAC
GTGGGCACAGCCTCTGTGTATGATGGGGACAGTGTCCCAGTGTCCTGTGA
GGTCCATCCATCCTGATGGCACATGAGGATGTGGACACAGCCTCTGTGTG
TGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATG
GTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTC
CCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATGAGGATGTGGA
CACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGAT
CCATCCATCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTGA
GATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGAT
CCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCC
AGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCAC
AGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCC
ACCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGA
TGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCATCCTGATGGCA
 T
T
 3 a0001c0001t0002g0168
a0001c0001t0005g0165
a0002c0002t0002g0217
a0001c0001t0002g0168
a0001c0001t0005g0165
a0002c0002t0002g0217
 3 HG00639.hp1
HG01175.hp2
HG02273.hp1
HG00639.hp1
HG01175.hp2
HG02273.hp1
 intron_variant MODIFIER c.910+766_911-2681de
others(1): Show 
c.910+766_911-2681del
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 INFO_REALIGN_3_PRIME chrX 1637297
chrX:1637311
GCACAGCC
others(236): Show 
GCACAGCCTCTGTGTATGATGGGGACAGTGTCCCAGTGTCCTGTGAGATC
CATCCCTCCTGATGCTTCACGAGGACGTGGGCACAGCCTCTGTGTATGAT
GGGGACAGTGTCCCAGTGTCCTGTGAGGTCCACCCATCCTGATGGCACAT
GAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCT
CTCCTGTGAGGTCCATCCATCCTGATGATCCATGAGGATGTGGA
 G
G
 1 a0002c0002t0002g0216
a0002c0002t0002g0216
 1 homoSapiens_chm13v2.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.910+766_910+1008de
others(1): Show 
c.910+766_910+1008del
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 INFO_REALIGN_3_PRIME chrX 1637311
chrX:1637311
GCACAGCC
others(2873): Show 
GCACAGCCTCTGTGTATGATGGGGACAGTGTCCCAGTGTCCTGTGAGATC
CATCCCTCCTGATGCTTCACGAGGACGTGGGCACAGCCTCTGTGTATGAT
GGGGACAGTGTCCCAGTGTCCTGTGAGGTCCACCCATCCTGATGGCACAT
GAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCT
CTCCTGTGAGGTCCATCCATCCTGATGATCCATGAGGATGTGGACACAGC
CTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCC
CTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGG
GACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGATCCATGA
GGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTC
CTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTC
TGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCAT
CCTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGA
CCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGATCCATGAGG
ATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCT
GTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTG
TGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCC
TGATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACC
ATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGATCCATGAGGAT
GTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGT
GAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTG
TGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTG
ATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGT
GTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTG
GGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGA
GGTCCATCCATCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGTG
TGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGAT
GCTTCACGAGGACGTGGGCACAGCCTCTGTGTATGATGGGGACAGTGTCC
CAGTGTCCTGTGAGGTCCATCCATCCTGATGGCACATGAGGATGTGGACA
CAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCC
ATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGA
TAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCC
ATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAG
TGTCCTGTGAGATCCATCCATCCTGATGGCACATGAGGATGTGGGCACAG
CCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCAT
CCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATG
GGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATG
AGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTC
TCCTGTGAGGTCCACCCATCCTGATGATCCATGAGGATGTGGACACAGCC
TCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCA
TCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGG
ACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGGCACATGAG
GATGTGGGCACAGCCTCTGTGTGTGAGATAAGGACTGTGTCCCAGCTCTC
CTGTGAGGTCCACCCATCCTGATGCTTCACGAGGACGTGGGCACAGCCTC
TGTGTATGATGGGGACAGTGTCCCAGTGTCCTGTGAGGTCCATCCATCCT
GATGGCACATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAG
TGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGT
GGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTG
AGGTCCACCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGT
GTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCATCCTGAT
GGCACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGT
CCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGATCCATGAGGATGTGG
ACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGA
TCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTG
AGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGA
TCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCC
CAGTGTCCTGTGAGATCCATCCATCCTGATGGCACATGAGGATGTGGGCA
CAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTC
CACCCATCCTGATGATCCATGAGGATGTGGA
 G
G
 2 a0001c0001t0002g0164
a0002c0002t0001g0018
a0001c0001t0002g0164
a0002c0002t0001g0018
 2 HG02602.hp2
HG03834.hp1
HG02602.hp2
HG03834.hp1
 intron_variant MODIFIER c.910+766_911-2598de
others(1): Show 
c.910+766_911-2598del
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 INFO_REALIGN_3_PRIME chrX 1637311
chrX:1637326
A
A
 G
G
 2 a0001c0001t0002g0135
a0001c0001t0002g0195
a0001c0001t0002g0135
a0001c0001t0002g0195
 2 HG02615.hp2
HG03704.hp2
HG02615.hp2
HG03704.hp2
 intron_variant MODIFIER c.910+766A>G
c.910+766A>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1637326
chrX:1637327
T
T
 TGA
TGA
 1 a0001c0001t0002g0135
a0001c0001t0002g0135
 1 HG02615.hp2
HG02615.hp2
 intron_variant MODIFIER c.910+768_910+769dup
others(2): Show 
c.910+768_910+769dupGA
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 INFO_REALIGN_3_PRIME chrX 1637327
chrX:1637331
G
G
 A
A
 1 a0001c0001t0002g0135
a0001c0001t0002g0135
 1 HG02615.hp2
HG02615.hp2
 intron_variant MODIFIER c.910+771G>A
c.910+771G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1637331
chrX:1637337
A
A
 C
C
 1 a0001c0001t0002g0135
a0001c0001t0002g0135
 1 HG02615.hp2
HG02615.hp2
 intron_variant MODIFIER c.910+777A>C
c.910+777A>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1637337
chrX:1637338
G
G
 A
A
 1 a0001c0001t0002g0135
a0001c0001t0002g0135
 1 HG02615.hp2
HG02615.hp2
 intron_variant MODIFIER c.910+778G>A
c.910+778G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1637338
chrX:1637346
G
G
 GC
GC
 1 a0001c0001t0002g0135
a0001c0001t0002g0135
 1 HG02615.hp2
HG02615.hp2
 intron_variant MODIFIER c.910+786_910+787ins
others(1): Show 
c.910+786_910+787insC
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1637346
chrX:1637348
G
G
 C
C
 1 a0001c0001t0002g0135
a0001c0001t0002g0135
 1 HG02615.hp2
HG02615.hp2
 intron_variant MODIFIER c.910+788G>C
c.910+788G>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1637348
chrX:1637358
A
A
 G
G
 1 a0001c0001t0002g0135
a0001c0001t0002g0135
 1 HG02615.hp2
HG02615.hp2
 intron_variant MODIFIER c.910+798A>G
c.910+798A>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1637358
chrX:1637363
T
T
 C
C
 1 a0001c0001t0002g0135
a0001c0001t0002g0135
 1 HG02615.hp2
HG02615.hp2
 intron_variant MODIFIER c.910+803T>C
c.910+803T>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1637363
chrX:1637366
C
C
 A
A
 1 a0001c0001t0002g0135
a0001c0001t0002g0135
 1 HG02615.hp2
HG02615.hp2
 intron_variant MODIFIER c.910+806C>A
c.910+806C>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1637366
chrX:1637366
CTCCTGAT
others(1147): Show 
CTCCTGATGCTTCACGAGGACGTGGGCACAGCCTCTGTGTATGATGGGGA
CAGTGTCCCAGTGTCCTGTGAGGTCCACCCATCCTGATGGCACATGAGGA
TGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCT
GTGAGGTCCATCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTG
TGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCT
GATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCA
TGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGATCCATGAGGATG
TGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTG
AGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGT
GTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGA
TGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATG
TCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGATCCATGAGGATGTG
GACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAG
ATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGT
GAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATG
GCACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTC
CCAGCTCTCCTGTGAGGTCCATCCATCCTGATGATCCATGAGGATGTGGA
CACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGAT
CCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGA
GATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGAT
CCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCC
AGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCAC
AGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCC
ATCCA
 C
C
 1 a0001c0001t0002g0195
a0001c0001t0002g0195
 1 HG03704.hp2
HG03704.hp2
 intron_variant MODIFIER c.910+815_910+1968de
others(1): Show 
c.910+815_910+1968del
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 INFO_REALIGN_3_PRIME chrX 1637366
chrX:1637380
C
C
 T
T
 1 a0001c0001t0001g0053
a0001c0001t0001g0053
 1 HG01257.hp1
HG01257.hp1
 intron_variant MODIFIER c.910+820C>T
c.910+820C>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1637380
chrX:1637411
G
G
 A
A
 8 a0001c0001t0001g0008
a0001c0001t0001g0016
a0001c0001t0001g0071
others(5): Show 
a0001c0001t0001g0008
a0001c0001t0001g0016
a0001c0001t0001g0071
a0001c0001t0001g0118
a0001c0001t0001g0138
a0001c0001t0001g0211
a0001c0001t0002g0144
a0001c0001t0002g0190
 8 HG02109.hp2
HG02451.hp1
HG02723.hp2
others(5): Show 
HG02109.hp2
HG02451.hp1
HG02723.hp2
HG02896.hp1
HG02922.hp2
HG03041.hp1
NA18906.hp2
NA20129.hp1
 intron_variant MODIFIER c.910+851G>A
c.910+851G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1637411
chrX:1637438
G
G
 A
A
 1 a0001c0001t0002g0135
a0001c0001t0002g0135
 1 HG02615.hp2
HG02615.hp2
 intron_variant MODIFIER c.910+878G>A
c.910+878G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1637438
chrX:1637443
C
C
 T
T
 10 a0001c0001t0001g0008
a0001c0001t0001g0016
a0001c0001t0001g0071
others(7): Show 
a0001c0001t0001g0008
a0001c0001t0001g0016
a0001c0001t0001g0071
a0001c0001t0001g0118
a0001c0001t0001g0138
a0001c0001t0001g0211
a0001c0001t0001g0215
a0001c0001t0002g0135
a0001c0001t0002g0144
a0001c0001t0002g0190
 10 HG01884.hp1
HG02109.hp2
HG02451.hp1
others(7): Show 
HG01884.hp1
HG02109.hp2
HG02451.hp1
HG02615.hp2
HG02723.hp2
HG02896.hp1
HG02922.hp2
HG03041.hp1
NA18906.hp2
NA20129.hp1
 intron_variant MODIFIER c.910+883C>T
c.910+883C>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1637443
chrX:1637457
ACATGAGG
others(3618): Show 
ACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCC
AGCTCTCCTGTGAGGTCCATCCATCCTGATGATCCATGAGGATGTGGACA
CAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCC
ATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGA
TAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGATCC
ATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAG
TGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAG
CCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCAT
CCATCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATA
GGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGATCCAT
GAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTG
TCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCC
TCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCC
ATCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGG
GACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGATCCATGA
GGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTC
CTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTC
TGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCAT
CCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGA
CAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGA
TGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCT
GTGAGGTCCATCCATCCTGATGGCACATGAGGATGTGGGCACAGCCTCTG
TGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCC
TGATGCTTCACGAGGACGTGGGCACAGCCTCTGTGTATGATGGGGACAGT
GTCCCAGTGTCCTGTGAGGTCCATCCATCCTGATGGCACATGAGGATGTG
GACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAG
ATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGT
GAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATG
ATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTC
CCAGTGTCCTGTGAGATCCATCCATCCTGATGGCACATGAGGATGTGGGC
ACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGT
CCATCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGT
GATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTT
CATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCA
GCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATGAGGATGTGGACAC
AGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCA
TCCATCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGAT
AGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGGCACA
TGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAAGGACTGTGTCCCAGC
TCTCCTGTGAGGTCCACCCATCCTGATGCTTCACGAGGACGTGGGCACAG
CCTCTGTGTATGATGGGGACAGTGTCCCAGTGTCCTGTGAGGTCCATCCA
TCCTGATGGCACATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGG
ACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGG
ATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCC
TGTGAGGTCCACCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCT
GTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCATCC
TGATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACC
ATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGATCCATGAGGAT
GTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGT
GAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTG
TGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTG
ATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGT
GTCCCAGTGTCCTGTGAGATCCATCCATCCTGATGGCACATGAGGATGTG
GGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGA
GGTCCACCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTG
TGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGGTCCATCCCTCCTGATG
GTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTC
CCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATGAGGATGTGGA
CACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGAT
CCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGA
GATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGCT
TCATGAGGACGTGGGCACAGCCTCTGTGTATGATGGGGACAGTGTCCCAG
TGTCCTGTGAGATCCATCCATCCTGATGGCACATGAGGATGTGGGCACAG
CCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCAT
CCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATG
GGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATG
AGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTC
TCCTGTGAGGTCCACCCATCCTGATGATCCATGAGGATGTGGACACAGCC
TCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCA
TCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGG
ACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATGAG
GATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCC
TGTGAGGTCCATCCCTCCTGATGGTT
 A
A
 1 a0001c0001t0001g0053
a0001c0001t0001g0053
 1 HG01257.hp1
HG01257.hp1
 intron_variant MODIFIER c.910+966_911-1653de
others(1): Show 
c.910+966_911-1653del
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 INFO_REALIGN_3_PRIME chrX 1637457
chrX:1637466
T
T
 C
C
 1 a0001c0001t0002g0144
a0001c0001t0002g0144
 1 NA18906.hp2
NA18906.hp2
 intron_variant MODIFIER c.910+906T>C
c.910+906T>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1637466
chrX:1637526
T
T
 C
C
 11 a0001c0001t0001g0008
a0001c0001t0001g0016
a0001c0001t0001g0071
others(8): Show 
a0001c0001t0001g0008
a0001c0001t0001g0016
a0001c0001t0001g0071
a0001c0001t0001g0118
a0001c0001t0001g0138
a0001c0001t0001g0211
a0001c0001t0001g0215
a0001c0001t0002g0135
a0001c0001t0002g0144
a0001c0001t0002g0190
a0001c0001t0002g0218
 11 HG00741.hp1
HG01884.hp1
HG02109.hp2
others(8): Show 
HG00741.hp1
HG01884.hp1
HG02109.hp2
HG02451.hp1
HG02615.hp2
HG02723.hp2
HG02896.hp1
HG02922.hp2
HG03041.hp1
NA18906.hp2
NA20129.hp1
 intron_variant MODIFIER c.910+966T>C
c.910+966T>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1637526
chrX:1637540
CCATGAGG
others(571): Show 
CCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCC
AGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCAC
AGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCC
ATCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGA
TGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCA
TGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGC
TCTCCTGTGAGGTCCATCCATCCTGATGGCACATGAGGATGTGGGCACAG
CCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCAT
CCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATG
GGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATG
AGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTC
TCCTGTGAGGTCCATCCATCCTGATGGCA
 C
C
 1 a0001c0001t0002g0135
a0001c0001t0002g0135
 1 HG02615.hp2
HG02615.hp2
 intron_variant MODIFIER c.910+994_910+1571de
others(1): Show 
c.910+994_910+1571del
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 INFO_REALIGN_3_PRIME chrX 1637540
chrX:1637572
T
T
 A
A
 1 a0002c0002t0002g0216
a0002c0002t0002g0216
 1 homoSapiens_chm13v2.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.910+1012T>A
c.910+1012T>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1637572
chrX:1637576
G
G
 A
A
 1 a0002c0002t0002g0216
a0002c0002t0002g0216
 1 homoSapiens_chm13v2.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.910+1016G>A
c.910+1016G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1637576
chrX:1637583
GTGTCCCA
others(3783): Show 
GTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATG
TGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGT
GAGGTCCATCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTG
TGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGA
TGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATG
TCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGGCACATGAGGATGTG
GGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGA
GGTCCATCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTG
TGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATG
GTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTC
CCAGCTCTCCTGTGAGGTCCATCCATCCTGATGGCACATGAGGATGTGGG
CACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGG
TCCATCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTG
TGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGT
TCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCC
AGCTCTCCTGTGAGGTCCATCCATCCTGATGATCCATGAGGATGTGGACA
CAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCC
ATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGA
TAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGGCAC
ATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAG
CTCTCCTGTGAGGTCCACCCATCCTGATGCTTCACGAGGACGTGGGCACA
GCCTCTGTGTATGATGGGGACAGTGTCCCAGTGTCCTGTGAGGTCCATCC
ATCCTGATGGCACATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGG
GACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAG
GATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTC
CTGTGAGGTCCACCCATCCTGATGATCCATGAGGATGTGGACACAGCCTC
TGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCATC
CTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGAC
CATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGATCCATGAGGA
TGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTG
TGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGT
GTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCT
GATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAG
TGTCCCAGTGTCCTGTGAGATCCATCCATCCTGATGGTTCATGAGGATGT
GGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTG
AGGTCCATCCATCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGT
GTGAGATAAGGACTGTGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGA
TGCTTCACGAGGACGTGGGCACAGCCTCTGTGTATGATGGGGACAGTGTC
CCAGTGTCCTGTGAGGTCCATCCATCCTGATGGCACATGAGGATGTGGAC
ACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATC
CATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAG
ATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATC
CATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCA
GTGTCCTGTGAGATCCATCCATCCTGATGGCACATGAGGATGTGGGCACA
GCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCA
TCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGAT
GGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCAT
GAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCT
CTCCTGTGAGGTCCACCCATCCTGATGATCCATGAGGATGTGGACACAGC
CTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCC
ATCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGG
GACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATGA
GGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTC
CTGTGAGGTCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTC
TGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCAT
CCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGA
CAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGA
TGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCT
GTGAGGTCCACCCATCCTGATGCTTCATGAGGACGTGGGCACAGCCTCTG
TGTATGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCATCCTGA
TGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATG
TCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGATCCATGAGGATGTG
GACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAG
ATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGT
GAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATG
ATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTC
CCAGTGTCCTGTGAGATCCATCCATCCTGATGGCACATGAGGATGTGGGC
ACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGT
CCACCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGT
GATGGGGACAGTGTCCCAGTGTCCTGTGAGGTCCATCCCTCCTGATGGTT
CATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCA
GCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATGAGGATGTGGACAC
AGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCA
TCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGAT
AGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCA
TTAGGATGTGGACACAGCCTCTGTGTGTGTGATAGGGACCA
 G
G
 1 a0001c0001t0002g0190
a0001c0001t0002g0190
 1 HG02723.hp2
HG02723.hp2
 intron_variant MODIFIER c.910+1043_911-1411d
others(2): Show 
c.910+1043_911-1411del
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 INFO_REALIGN_3_PRIME chrX 1637583
chrX:1637603
A
A
 G
G
 8 a0001c0001t0001g0008
a0001c0001t0001g0016
a0001c0001t0001g0071
others(5): Show 
a0001c0001t0001g0008
a0001c0001t0001g0016
a0001c0001t0001g0071
a0001c0001t0001g0118
a0001c0001t0001g0138
a0001c0001t0001g0211
a0001c0001t0001g0215
a0001c0001t0002g0144
 8 HG01884.hp1
HG02109.hp2
HG02451.hp1
others(5): Show 
HG01884.hp1
HG02109.hp2
HG02451.hp1
HG02896.hp1
HG02922.hp2
HG03041.hp1
NA18906.hp2
NA20129.hp1
 intron_variant MODIFIER c.910+1043A>G
c.910+1043A>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1637603
chrX:1637611
C
C
 A
A
 2 a0001c0001t0001g0215
a0001c0001t0002g0218
a0001c0001t0001g0215
a0001c0001t0002g0218
 2 HG00741.hp1
HG01884.hp1
HG00741.hp1
HG01884.hp1
 intron_variant MODIFIER c.910+1051C>A
c.910+1051C>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1637611
chrX:1637621
T
T
 C
C
 2 a0001c0001t0001g0215
a0001c0001t0002g0218
a0001c0001t0001g0215
a0001c0001t0002g0218
 2 HG00741.hp1
HG01884.hp1
HG00741.hp1
HG01884.hp1
 intron_variant MODIFIER c.910+1061T>C
c.910+1061T>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1637621
chrX:1637622
T
T
 A
A
 2 a0001c0001t0001g0215
a0001c0001t0002g0218
a0001c0001t0001g0215
a0001c0001t0002g0218
 2 HG00741.hp1
HG01884.hp1
HG00741.hp1
HG01884.hp1
 intron_variant MODIFIER c.910+1062T>A
c.910+1062T>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1637622
chrX:1637654
AGATAGGG
others(3701): Show 
AGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGA
TCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCC
CAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCA
CAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTC
CATCCATCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTGAG
ATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGATC
CATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCA
GTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACA
GCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCA
TCCATCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGAT
AGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGATCCA
TGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGT
GTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGC
CTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATC
CATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGG
GGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGA
GGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCT
CCTGTGAGGTCCATCCATCCTGATGGCACATGAGGATGTGGGCACAGCCT
CTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCA
TCCTGATGCTTCACGAGGACGTGGGCACAGCCTCTGTGTATGATGGGGAC
AGTGTCCCAGTGTCCTGTGAGGTCCATCCATCCTGATGGCACATGAGGAT
GTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGT
GAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTG
TGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTG
ATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGT
GTCCCAGTGTCCTGTGAGATCCATCCATCCTGATGGCACATGAGGATGTG
GGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGA
GGTCCATCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTG
TGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATG
GTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTC
CCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATGAGGATGTGGA
CACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGAT
CCATCCATCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGA
GATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGGC
ACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAAGGACTGTGTCCC
AGCTCTCCTGTGAGGTCCACCCATCCTGATGCTTCACGAGGACGTGGGCA
CAGCCTCTGTGTATGATGGGGACAGTGTCCCAGTGTCCTGTGAGGTCCAT
CCATCCTGATGGCACATGAGGATGTGGACACAGCCTCTGTGTGTGTGATG
GGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATG
AGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTC
TCCTGTGAGGTCCACCCATCCTGATGATCCATGAGGATGTGGACACAGCC
TCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCA
TCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGG
ACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGATCCATGAG
GATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCC
TGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCT
GTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATC
CTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGAC
AGTGTCCCAGTGTCCTGTGAGATCCATCCATCCTGATGGCACATGAGGAT
GTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTG
TGAGGTCCACCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGT
GTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGGTCCATCCCTCCTG
ATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCAT
GTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATGAGGATGT
GGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGA
GATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTG
TGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGAT
GCTTCATGAGGACGTGGGCACAGCCTCTGTGTATGATGGGGACAGTGTCC
CAGTGTCCTGTGAGATCCATCCATCCTGATGGCACATGAGGATGTGGGCA
CAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTC
CATCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTG
ATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTC
ATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAG
CTCTCCTGTGAGGTCCACCCATCCTGATGATCCATGAGGATGTGGACACA
GCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCAT
CCATCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATA
GGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCAT
GAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTG
TCCTGTGAGGTCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCC
TCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCC
ATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGG
GACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAG
GATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTC
CTGTGAGGTCCACCCATCCTGATGATCCATTAGGATGTGGACACAGCCTC
TGTGTGTGT
 A
A
 7 a0001c0001t0001g0008
a0001c0001t0001g0016
a0001c0001t0001g0071
others(4): Show 
a0001c0001t0001g0008
a0001c0001t0001g0016
a0001c0001t0001g0071
a0001c0001t0001g0118
a0001c0001t0001g0138
a0001c0001t0001g0211
a0001c0001t0002g0144
 7 HG02109.hp2
HG02451.hp1
HG02896.hp1
others(4): Show 
HG02109.hp2
HG02451.hp1
HG02896.hp1
HG02922.hp2
HG03041.hp1
NA18906.hp2
NA20129.hp1
 intron_variant MODIFIER c.910+1114_911-1422d
others(2): Show 
c.910+1114_911-1422del
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 INFO_REALIGN_3_PRIME chrX 1637654
chrX:1637691
T
T
 C
C
 4 a0001c0001t0001g0215
a0001c0001t0002g0218
a0001c0001t0003g0090
others(1): Show 
a0001c0001t0001g0215
a0001c0001t0002g0218
a0001c0001t0003g0090
a0002c0002t0002g0216
 4 HG00741.hp1
HG01884.hp1
HG02818.hp2
others(1): Show 
HG00741.hp1
HG01884.hp1
HG02818.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.910+1131T>C
c.910+1131T>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1637691
chrX:1637719
A
A
 G
G
 1 a0001c0001t0002g0218
a0001c0001t0002g0218
 1 HG00741.hp1
HG00741.hp1
 intron_variant MODIFIER c.910+1159A>G
c.910+1159A>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1637719
chrX:1637728
CTG
CTG
 C
C
 1 a0001c0001t0001g0215
a0001c0001t0001g0215
 1 HG01884.hp1
HG01884.hp1
 intron_variant MODIFIER c.910+1177_910+1178d
others(4): Show 
c.910+1177_910+1178delTG
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 INFO_REALIGN_3_PRIME chrX 1637728
chrX:1637736
G
G
 A
A
 1 a0001c0001t0001g0215
a0001c0001t0001g0215
 1 HG01884.hp1
HG01884.hp1
 intron_variant MODIFIER c.910+1176G>A
c.910+1176G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1637736
chrX:1637748
GTGTCCCA
others(158): Show 
GTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATG
TGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGT
GAGGTCCATCCATCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGTG
TGTGAGATAGGGACCA
 G
G
 1 a0001c0001t0002g0218
a0001c0001t0002g0218
 1 HG00741.hp1
HG00741.hp1
 intron_variant MODIFIER c.910+1197_910+1361d
others(2): Show 
c.910+1197_910+1361del
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 INFO_REALIGN_3_PRIME chrX 1637748
chrX:1637768
A
A
 G
G
 1 a0001c0001t0003g0090
a0001c0001t0003g0090
 1 HG02818.hp2
HG02818.hp2
 intron_variant MODIFIER c.910+1208A>G
c.910+1208A>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1637768
chrX:1637768
ATCCATCC
others(324): Show 
ATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGT
GAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATG
GCACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTC
CCAGCTCTCCTGTGAGGTCCATCCATCCTGATGATCCATGAGGATGTGGA
CACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGAT
CCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGA
GATAGGGACCATGTCCCAGCTCTCCTGTGAGG
 A
A
 1 a0001c0001t0001g0215
a0001c0001t0001g0215
 1 HG01884.hp1
HG01884.hp1
 intron_variant MODIFIER c.910+1216_910+1546d
others(2): Show 
c.910+1216_910+1546del
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 INFO_REALIGN_3_PRIME chrX 1637768
chrX:1637787
TCATGAGG
others(76): Show 
TCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCC
AGCTCTCCTGTGAGGTCCATCCATCCTGATGGCA
 T
T
 1 a0002c0002t0002g0216
a0002c0002t0002g0216
 1 homoSapiens_chm13v2.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.910+1308_910+1390d
others(85): Show 
c.910+1308_910+1390delGCACATGAGGATGTGGGCACAGCCTCTG
TGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCC
TGATG
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 INFO_REALIGN_3_PRIME chrX 1637787
chrX:1637819
A
A
 T
T
 1 a0001c0001t0003g0090
a0001c0001t0003g0090
 1 HG02818.hp2
HG02818.hp2
 intron_variant MODIFIER c.910+1259A>T
c.910+1259A>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1637819
chrX:1637821
A
A
 T
T
 1 a0001c0001t0003g0090
a0001c0001t0003g0090
 1 HG02818.hp2
HG02818.hp2
 intron_variant MODIFIER c.910+1261A>T
c.910+1261A>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1637821
chrX:1637823
A
A
 G
G
 1 a0001c0001t0003g0090
a0001c0001t0003g0090
 1 HG02818.hp2
HG02818.hp2
 intron_variant MODIFIER c.910+1263A>G
c.910+1263A>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1637823
chrX:1637829
C
C
 A
A
 1 a0001c0001t0003g0090
a0001c0001t0003g0090
 1 HG02818.hp2
HG02818.hp2
 intron_variant MODIFIER c.910+1269C>A
c.910+1269C>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1637829
chrX:1637830
A
A
 G
G
 1 a0001c0001t0003g0090
a0001c0001t0003g0090
 1 HG02818.hp2
HG02818.hp2
 intron_variant MODIFIER c.910+1270A>G
c.910+1270A>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1637830
chrX:1637839
C
C
 T
T
 1 a0001c0001t0003g0090
a0001c0001t0003g0090
 1 HG02818.hp2
HG02818.hp2
 intron_variant MODIFIER c.910+1279C>T
c.910+1279C>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1637839
chrX:1637856
T
T
 C
C
 1 a0001c0001t0003g0090
a0001c0001t0003g0090
 1 HG02818.hp2
HG02818.hp2
 intron_variant MODIFIER c.910+1296T>C
c.910+1296T>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1637856
chrX:1637868
G
G
 A
A
 1 a0001c0001t0003g0090
a0001c0001t0003g0090
 1 HG02818.hp2
HG02818.hp2
 intron_variant MODIFIER c.910+1308G>A
c.910+1308G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1637868
chrX:1637869
C
C
 T
T
 1 a0001c0001t0003g0090
a0001c0001t0003g0090
 1 HG02818.hp2
HG02818.hp2
 intron_variant MODIFIER c.910+1309C>T
c.910+1309C>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1637869
chrX:1637870
A
A
 C
C
 1 a0001c0001t0003g0090
a0001c0001t0003g0090
 1 HG02818.hp2
HG02818.hp2
 intron_variant MODIFIER c.910+1310A>C
c.910+1310A>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1637870
chrX:1637874
G
G
 T
T
 1 a0001c0001t0003g0090
a0001c0001t0003g0090
 1 HG02818.hp2
HG02818.hp2
 intron_variant MODIFIER c.910+1314G>T
c.910+1314G>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1637874
chrX:1637921
GC
GC
 G
G
 1 a0001c0001t0003g0090
a0001c0001t0003g0090
 1 HG02818.hp2
HG02818.hp2
 intron_variant MODIFIER c.910+1362delC
c.910+1362delC
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1637921
chrX:1637924
C
C
 G
G
 1 a0001c0001t0003g0090
a0001c0001t0003g0090
 1 HG02818.hp2
HG02818.hp2
 intron_variant MODIFIER c.910+1364C>G
c.910+1364C>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1637924
chrX:1637939
T
T
 C
C
 3 a0001c0001t0002g0218
a0001c0001t0003g0090
a0002c0002t0002g0216
a0001c0001t0002g0218
a0001c0001t0003g0090
a0002c0002t0002g0216
 3 HG00741.hp1
HG02818.hp2
homoSapiens_chm13v2.hp1
HG00741.hp1
HG02818.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.910+1379T>C
c.910+1379T>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1637939
chrX:1637941
C
C
 T
T
 1 a0001c0001t0003g0090
a0001c0001t0003g0090
 1 HG02818.hp2
HG02818.hp2
 intron_variant MODIFIER c.910+1381C>T
c.910+1381C>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1637941
chrX:1637951
A
A
 G
G
 1 a0001c0001t0003g0090
a0001c0001t0003g0090
 1 HG02818.hp2
HG02818.hp2
 intron_variant MODIFIER c.910+1391A>G
c.910+1391A>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1637951
chrX:1637962
T
T
 C
C
 1 a0001c0001t0003g0090
a0001c0001t0003g0090
 1 HG02818.hp2
HG02818.hp2
 intron_variant MODIFIER c.910+1402T>C
c.910+1402T>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1637962
chrX:1637975
T
T
 G
G
 1 a0001c0001t0003g0090
a0001c0001t0003g0090
 1 HG02818.hp2
HG02818.hp2
 intron_variant MODIFIER c.910+1415T>G
c.910+1415T>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1637975
chrX:1637978
G
G
 C
C
 1 a0001c0001t0003g0090
a0001c0001t0003g0090
 1 HG02818.hp2
HG02818.hp2
 intron_variant MODIFIER c.910+1418G>C
c.910+1418G>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1637978
chrX:1637996
GTGTCCCA
others(1804): Show 
GTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATG
TGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGT
GAGGTCCATCCATCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGTG
TGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTG
ATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGT
GTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTG
GGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGA
GGTCCATCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTG
TGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATG
GTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTC
CCAGCTCTCCTGTGAGGTCCATCCATCCTGATGGCACATGAGGATGTGGG
CACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGG
TCCACCCATCCTGATGCTTCACGAGGACGTGGGCACAGCCTCTGTGTATG
ATGGGGACAGTGTCCCAGTGTCCTGTGAGGTCCATCCATCCTGATGGCAC
ATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAG
TGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAG
CCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCAC
CCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATG
GGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCATCCTGATGGCACATG
AGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTC
TCCTGTGAGGTCCATCCATCCTGATGATCCATGAGGATGTGGACACAGCC
TCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCC
TCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGG
ACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATGAG
GATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCC
TGTGAGATCCATCCATCCTGATGGTTCATGAGGATGTGGGCACAGCCTCT
GTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATC
CTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAAGGAC
TGTGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGCTTCACGAGGA
CGTGGGCACAGCCTCTGTGTATGATGGGGACAGTGTCCCAGTGTCCTGTG
AGGTCCATCCATCCTGATGGCACATGAGGATGTGGACACAGCCTCTGTGT
GTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGAT
GGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGT
CCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATGAGGATGTGG
ACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGA
TCCATCCATCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTG
AGATAGGGACCA
 G
G
 1 a0001c0001t0003g0090
a0001c0001t0003g0090
 1 HG02818.hp2
HG02818.hp2
 intron_variant MODIFIER c.910+1445_911-2988d
others(2): Show 
c.910+1445_911-2988del
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 INFO_REALIGN_3_PRIME chrX 1637996
chrX:1638016
ATCCATCC
others(76): Show 
ATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGT
GAGATAGGGACCATGTCCCAGCTCTCCTGTGAGG
 A
A
 2 a0001c0001t0002g0218
a0002c0002t0002g0216
a0001c0001t0002g0218
a0002c0002t0002g0216
 2 HG00741.hp1
homoSapiens_chm13v2.hp1
HG00741.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.910+1464_910+1546d
others(85): Show 
c.910+1464_910+1546delCTCCTGATGGTTCATGAGGATGTGGGCA
CAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTC
CATCC
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 INFO_REALIGN_3_PRIME chrX 1638016
chrX:1638127
T
T
 C
C
 1 a0001c0001t0002g0135
a0001c0001t0002g0135
 1 HG02615.hp2
HG02615.hp2
 intron_variant MODIFIER c.910+1567T>C
c.910+1567T>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1638127
chrX:1638155
G
G
 A
A
 1 a0001c0001t0002g0135
a0001c0001t0002g0135
 1 HG02615.hp2
HG02615.hp2
 intron_variant MODIFIER c.910+1595G>A
c.910+1595G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1638155
chrX:1638160
C
C
 T
T
 1 a0001c0001t0002g0135
a0001c0001t0002g0135
 1 HG02615.hp2
HG02615.hp2
 intron_variant MODIFIER c.910+1600C>T
c.910+1600C>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1638160
chrX:1638161
A
A
 G
G
 1 a0001c0001t0002g0135
a0001c0001t0002g0135
 1 HG02615.hp2
HG02615.hp2
 intron_variant MODIFIER c.910+1601A>G
c.910+1601A>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1638161
chrX:1638187
T
T
 C
C
 6 a0001c0001t0001g0215
a0001c0001t0002g0135
a0001c0001t0002g0157
others(3): Show 
a0001c0001t0001g0215
a0001c0001t0002g0135
a0001c0001t0002g0157
a0001c0001t0002g0218
a0002c0002t0002g0191
a0002c0002t0002g0216
 6 HG00735.hp2
HG00741.hp1
HG01517.hp2
others(3): Show 
HG00735.hp2
HG00741.hp1
HG01517.hp2
HG01884.hp1
HG02615.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.910+1627T>C
c.910+1627T>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1638187
chrX:1638210
T
T
 C
C
 1 a0001c0001t0002g0135
a0001c0001t0002g0135
 1 HG02615.hp2
HG02615.hp2
 intron_variant MODIFIER c.910+1650T>C
c.910+1650T>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1638210
chrX:1638215
A
A
 G
G
 1 a0001c0001t0002g0135
a0001c0001t0002g0135
 1 HG02615.hp2
HG02615.hp2
 intron_variant MODIFIER c.910+1655A>G
c.910+1655A>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1638215
chrX:1638224
CTG
CTG
 C
C
 1 a0001c0001t0002g0135
a0001c0001t0002g0135
 1 HG02615.hp2
HG02615.hp2
 intron_variant MODIFIER c.910+1673_910+1674d
others(4): Show 
c.910+1673_910+1674delTG
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 INFO_REALIGN_3_PRIME chrX 1638224
chrX:1638232
G
G
 A
A
 1 a0001c0001t0002g0135
a0001c0001t0002g0135
 1 HG02615.hp2
HG02615.hp2
 intron_variant MODIFIER c.910+1672G>A
c.910+1672G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1638232
chrX:1638264
A
A
 G
G
 3 a0001c0001t0001g0215
a0001c0001t0002g0157
a0002c0002t0002g0216
a0001c0001t0001g0215
a0001c0001t0002g0157
a0002c0002t0002g0216
 3 HG00735.hp2
HG01884.hp1
homoSapiens_chm13v2.hp1
HG00735.hp2
HG01884.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.910+1704A>G
c.910+1704A>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1638264
chrX:1638264
ATCCATCC
others(1969): Show 
ATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGT
GAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATG
ATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTC
CCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGC
ACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGT
CCATCCATCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTGA
GATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGCT
TCACGAGGACGTGGGCACAGCCTCTGTGTATGATGGGGACAGTGTCCCAG
TGTCCTGTGAGGTCCATCCATCCTGATGGCACATGAGGATGTGGACACAG
CCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATC
CCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAG
GGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATG
AGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGT
CCTGTGAGATCCATCCATCCTGATGGCACATGAGGATGTGGGCACAGCCT
CTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCA
TCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGG
ACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGG
ATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCC
TGTGAGGTCCACCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCT
GTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCATCC
TGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACC
ATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGGCACATGAGGAT
GTGGGCACAGCCTCTGTGTGTGAGATAAGGACTGTGTCCCAGCTCTCCTG
TGAGGTCCACCCATCCTGATGCTTCACGAGGACGTGGGCACAGCCTCTGT
GTATGATGGGGACAGTGTCCCAGTGTCCTGTGAGGTCCATCCATCCTGAT
GGCACATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGT
CCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGG
CACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGG
TCCACCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTG
TGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCATCCTGATGGC
ACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCC
AGCTCTCCTGTGAGGTCCATCCATCCTGATGATCCATGAGGATGTGGACA
CAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCC
ATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGA
TAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCC
ATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAG
TGTCCTGTGAGATCCATCCATCCTGATGGCACATGAGGATGTGGGCACAG
CCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCAC
CCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATG
GGGACAGTGTCCCAGTGTCCTGTGAGG
 A
A
 1 a0001c0001t0002g0218
a0001c0001t0002g0218
 1 HG00741.hp1
HG00741.hp1
 intron_variant MODIFIER c.910+1792_911-2476d
others(2): Show 
c.910+1792_911-2476del
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 INFO_REALIGN_3_PRIME chrX 1638264
chrX:1638272
C
C
 A
A
 1 a0002c0002t0002g0191
a0002c0002t0002g0191
 1 HG01517.hp2
HG01517.hp2
 intron_variant MODIFIER c.910+1712C>A
c.910+1712C>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1638272
chrX:1638282
T
T
 C
C
 3 a0001c0001t0002g0157
a0002c0002t0002g0191
a0002c0002t0002g0216
a0001c0001t0002g0157
a0002c0002t0002g0191
a0002c0002t0002g0216
 3 HG00735.hp2
HG01517.hp2
homoSapiens_chm13v2.hp1
HG00735.hp2
HG01517.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.910+1722T>C
c.910+1722T>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1638282
chrX:1638283
T
T
 A
A
 3 a0001c0001t0002g0157
a0002c0002t0002g0191
a0002c0002t0002g0216
a0001c0001t0002g0157
a0002c0002t0002g0191
a0002c0002t0002g0216
 3 HG00735.hp2
HG01517.hp2
homoSapiens_chm13v2.hp1
HG00735.hp2
HG01517.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.910+1723T>A
c.910+1723T>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1638283
chrX:1638320
G
G
 A
A
 1 a0001c0001t0002g0135
a0001c0001t0002g0135
 1 HG02615.hp2
HG02615.hp2
 intron_variant MODIFIER c.910+1760G>A
c.910+1760G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1638320
chrX:1638325
C
C
 T
T
 1 a0001c0001t0002g0135
a0001c0001t0002g0135
 1 HG02615.hp2
HG02615.hp2
 intron_variant MODIFIER c.910+1765C>T
c.910+1765C>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1638325
chrX:1638326
A
A
 G
G
 1 a0001c0001t0002g0135
a0001c0001t0002g0135
 1 HG02615.hp2
HG02615.hp2
 intron_variant MODIFIER c.910+1766A>G
c.910+1766A>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1638326
chrX:1638352
T
T
 C
C
 5 a0001c0001t0001g0215
a0001c0001t0002g0135
a0001c0001t0002g0157
others(2): Show 
a0001c0001t0001g0215
a0001c0001t0002g0135
a0001c0001t0002g0157
a0002c0002t0002g0191
a0002c0002t0002g0216
 5 HG00735.hp2
HG01517.hp2
HG01884.hp1
others(2): Show 
HG00735.hp2
HG01517.hp2
HG01884.hp1
HG02615.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.910+1792T>C
c.910+1792T>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1638352
chrX:1638364
A
A
 C
C
 2 a0001c0001t0001g0215
a0001c0001t0002g0135
a0001c0001t0001g0215
a0001c0001t0002g0135
 2 HG01884.hp1
HG02615.hp2
HG01884.hp1
HG02615.hp2
 intron_variant MODIFIER c.910+1804A>C
c.910+1804A>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1638364
chrX:1638366
C
C
 T
T
 2 a0001c0001t0001g0215
a0001c0001t0002g0135
a0001c0001t0001g0215
a0001c0001t0002g0135
 2 HG01884.hp1
HG02615.hp2
HG01884.hp1
HG02615.hp2
 intron_variant MODIFIER c.910+1806C>T
c.910+1806C>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1638366
chrX:1638375
T
T
 C
C
 2 a0001c0001t0001g0215
a0001c0001t0002g0135
a0001c0001t0001g0215
a0001c0001t0002g0135
 2 HG01884.hp1
HG02615.hp2
HG01884.hp1
HG02615.hp2
 intron_variant MODIFIER c.910+1815T>C
c.910+1815T>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1638375
chrX:1638380
A
A
 G
G
 2 a0001c0001t0001g0215
a0001c0001t0002g0135
a0001c0001t0001g0215
a0001c0001t0002g0135
 2 HG01884.hp1
HG02615.hp2
HG01884.hp1
HG02615.hp2
 intron_variant MODIFIER c.910+1820A>G
c.910+1820A>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1638380
chrX:1638389
CTG
CTG
 C
C
 2 a0001c0001t0001g0215
a0001c0001t0002g0135
a0001c0001t0001g0215
a0001c0001t0002g0135
 2 HG01884.hp1
HG02615.hp2
HG01884.hp1
HG02615.hp2
 intron_variant MODIFIER c.910+1838_910+1839d
others(4): Show 
c.910+1838_910+1839delTG
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 INFO_REALIGN_3_PRIME chrX 1638389
chrX:1638397
G
G
 A
A
 2 a0001c0001t0001g0215
a0001c0001t0002g0135
a0001c0001t0001g0215
a0001c0001t0002g0135
 2 HG01884.hp1
HG02615.hp2
HG01884.hp1
HG02615.hp2
 intron_variant MODIFIER c.910+1837G>A
c.910+1837G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1638397
chrX:1638419
GTCCTGTG
others(76): Show 
GTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGC
CTCTGTGTGTGAGATAGGGACCATGTCCCAGCTC
 G
G
 2 a0002c0002t0002g0191
a0002c0002t0002g0216
a0002c0002t0002g0191
a0002c0002t0002g0216
 2 HG01517.hp2
homoSapiens_chm13v2.hp1
HG01517.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.910+1869_910+1951d
others(85): Show 
c.910+1869_910+1951delATCCATCCCTCCTGATGGTTCATGAGGA
TGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCT
GTGAG
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 INFO_REALIGN_3_PRIME chrX 1638419
chrX:1638429
ATCCATCC
others(76): Show 
ATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGT
GAGATAGGGACCATGTCCCAGCTCTCCTGTGAGG
 A
A
 2 a0001c0001t0001g0215
a0001c0001t0002g0135
a0001c0001t0001g0215
a0001c0001t0002g0135
 2 HG01884.hp1
HG02615.hp2
HG01884.hp1
HG02615.hp2
 intron_variant MODIFIER c.910+1877_910+1959d
others(85): Show 
c.910+1877_910+1959delCTCCTGATGGTTCATGAGGATGTGGGCA
CAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTC
CATCC
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 INFO_REALIGN_3_PRIME chrX 1638429
chrX:1638437
C
C
 A
A
 1 a0001c0001t0002g0157
a0001c0001t0002g0157
 1 HG00735.hp2
HG00735.hp2
 intron_variant MODIFIER c.910+1877C>A
c.910+1877C>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1638437
chrX:1638447
T
T
 C
C
 1 a0001c0001t0002g0157
a0001c0001t0002g0157
 1 HG00735.hp2
HG00735.hp2
 intron_variant MODIFIER c.910+1887T>C
c.910+1887T>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1638447
chrX:1638448
T
T
 A
A
 1 a0001c0001t0002g0157
a0001c0001t0002g0157
 1 HG00735.hp2
HG00735.hp2
 intron_variant MODIFIER c.910+1888T>A
c.910+1888T>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1638448
chrX:1638502
C
C
 G
G
 1 a0001c0003t0001g0030
a0001c0003t0001g0030
 1 NA18947.hp1
NA18947.hp1
 intron_variant MODIFIER c.910+1942C>G
c.910+1942C>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1638502
chrX:1638512
G
G
 A
A
 2 a0001c0001t0001g0006
a0002c0002t0001g0074
a0001c0001t0001g0006
a0002c0002t0001g0074
 2 HG03540.hp1
NA21309.hp1
HG03540.hp1
NA21309.hp1
 intron_variant MODIFIER c.910+1952G>A
c.910+1952G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1638512
chrX:1638517
T
T
 C
C
 1 a0001c0001t0002g0157
a0001c0001t0002g0157
 1 HG00735.hp2
HG00735.hp2
 intron_variant MODIFIER c.910+1957T>C
c.910+1957T>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1638517
chrX:1638520
A
A
 C
C
 2 a0002c0002t0002g0191
a0002c0002t0002g0216
a0002c0002t0002g0191
a0002c0002t0002g0216
 2 HG01517.hp2
homoSapiens_chm13v2.hp1
HG01517.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.910+1960A>C
c.910+1960A>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1638520
chrX:1638527
TGGC
TGGC
 T
T
 1 a0001c0001t0001g0083
a0001c0001t0001g0083
 1 HG02257.hp2
HG02257.hp2
 intron_variant MODIFIER c.910+1968_910+1970d
others(5): Show 
c.910+1968_910+1970delGGC
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1638527
chrX:1638531
A
A
 C
C
 1 a0001c0001t0001g0083
a0001c0001t0001g0083
 1 HG02257.hp2
HG02257.hp2
 intron_variant MODIFIER c.910+1971A>C
c.910+1971A>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1638531
chrX:1638531
ACATGAGG
others(321): Show 
ACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCC
AGCTCTCCTGTGAGGTCCACCCATCCTGATGCTTCACGAGGACGTGGGCA
CAGCCTCTGTGTATGATGGGGACAGTGTCCCAGTGTCCTGTGAGGTCCAT
CCATCCTGATGGCACATGAGGATGTGGACACAGCCTCTGTGTGTGTGATG
GGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATG
AGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTC
TCCTGTGAGGTCCACCCATCCTGATGATC
 A
A
 1 a0001c0001t0002g0157
a0001c0001t0002g0157
 1 HG00735.hp2
HG00735.hp2
 intron_variant MODIFIER c.910+1985_910+2312d
others(2): Show 
c.910+1985_910+2312del
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 INFO_REALIGN_3_PRIME chrX 1638531
chrX:1638567
A
A
 G
G
 1 a0001c0001t0002g0196
a0001c0001t0002g0196
 1 HG01123.hp1
HG01123.hp1
 intron_variant MODIFIER c.910+2007A>G
c.910+2007A>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1638567
chrX:1638568
G
G
 A
A
 2 a0001c0001t0001g0083
a0001c0001t0002g0134
a0001c0001t0001g0083
a0001c0001t0002g0134
 2 HG02257.hp2
HG02615.hp1
HG02257.hp2
HG02615.hp1
 intron_variant MODIFIER c.910+2008G>A
c.910+2008G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1638568
chrX:1638573
C
C
 A
A
 1 a0001c0001t0002g0196
a0001c0001t0002g0196
 1 HG01123.hp1
HG01123.hp1
 intron_variant MODIFIER c.910+2013C>A
c.910+2013C>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1638573
chrX:1638573
C
C
 T
T
 2 a0001c0001t0001g0083
a0001c0001t0002g0134
a0001c0001t0001g0083
a0001c0001t0002g0134
 2 HG02257.hp2
HG02615.hp1
HG02257.hp2
HG02615.hp1
 intron_variant MODIFIER c.910+2013C>T
c.910+2013C>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1638573
chrX:1638574
A
A
 G
G
 3 a0001c0001t0001g0083
a0001c0001t0002g0134
a0001c0001t0002g0196
a0001c0001t0001g0083
a0001c0001t0002g0134
a0001c0001t0002g0196
 3 HG01123.hp1
HG02257.hp2
HG02615.hp1
HG01123.hp1
HG02257.hp2
HG02615.hp1
 intron_variant MODIFIER c.910+2014A>G
c.910+2014A>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1638574
chrX:1638603
ATCCTGAT
others(155): Show 
ATCCTGATGCTTCACGAGGACGTGGGCACAGCCTCTGTGTATGATGGGGA
CAGTGTCCCAGTGTCCTGTGAGGTCCATCCATCCTGATGGCACATGAGGA
TGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTG
TGAGATCCATCCC
 A
A
 1 a0001c0001t0001g0215
a0001c0001t0001g0215
 1 HG01884.hp1
HG01884.hp1
 intron_variant MODIFIER c.910+2052_910+2213d
others(2): Show 
c.910+2052_910+2213del
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 INFO_REALIGN_3_PRIME chrX 1638603
chrX:1638612
C
C
 A
A
 1 a0001c0003t0001g0171
a0001c0003t0001g0171
 1 NA21309.hp2
NA21309.hp2
 intron_variant MODIFIER c.910+2052C>A
c.910+2052C>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1638612
chrX:1638614
T
T
 C
C
 1 a0001c0003t0001g0171
a0001c0003t0001g0171
 1 NA21309.hp2
NA21309.hp2
 intron_variant MODIFIER c.910+2054T>C
c.910+2054T>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1638614
chrX:1638617
C
C
 T
T
 12 a0001c0001t0001g0040
a0001c0001t0001g0128
a0001c0001t0002g0134
others(9): Show 
a0001c0001t0001g0040
a0001c0001t0001g0128
a0001c0001t0002g0134
a0001c0001t0002g0195
a0001c0003t0001g0022
a0001c0003t0001g0062
a0001c0003t0001g0171
a0002c0002t0001g0009
a0002c0002t0001g0073
a0002c0002t0002g0183
a0002c0002t0002g0191
a0002c0002t0002g0216
 12 HG00099.hp1
HG01517.hp2
HG01975.hp1
others(9): Show 
HG00099.hp1
HG01517.hp2
HG01975.hp1
HG01975.hp2
HG02615.hp1
HG02886.hp1
HG03704.hp2
NA18906.hp1
NA19003.hp1
NA20129.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.910+2057C>T
c.910+2057C>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1638617
chrX:1638623
C
C
 T
T
 1 a0001c0003t0001g0171
a0001c0003t0001g0171
 1 NA21309.hp2
NA21309.hp2
 intron_variant MODIFIER c.910+2063C>T
c.910+2063C>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1638623
chrX:1638628
G
G
 A
A
 1 a0001c0003t0001g0171
a0001c0003t0001g0171
 1 NA21309.hp2
NA21309.hp2
 intron_variant MODIFIER c.910+2068G>A
c.910+2068G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1638628
chrX:1638643
ATGATGGG
others(570): Show 
ATGATGGGGACAGTGTCCCAGTGTCCTGTGAGGTCCATCCATCCTGATGG
CACATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCC
CAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCA
CAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTC
CACCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTG
ATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCATCCTGATGGCAC
ATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAG
CTCTCCTGTGAGGTCCATCCATCCTGATGATCCATGAGGATGTGGACACA
GCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCAT
CCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATA
GGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCAT
GAGGATGTGGACACAGCCTCTGTGTGTG
 A
A
 1 a0002c0002t0002g0216
a0002c0002t0002g0216
 1 homoSapiens_chm13v2.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.910+2115_910+2691d
others(2): Show 
c.910+2115_910+2691del
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 INFO_REALIGN_3_PRIME chrX 1638643
chrX:1638643
ATGATGGG
others(1063): Show 
ATGATGGGGACAGTGTCCCAGTGTCCTGTGAGGTCCATCCATCCTGATGG
CACATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCC
CAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCA
CAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTC
CACCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTG
ATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCATCCTGATGGCAC
ATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAG
CTCTCCTGTGAGGTCCATCCATCCTGATGATCCATGAGGATGTGGACACA
GCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCAT
CCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATA
GGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCAT
GAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTG
TCCTGTGAGATCCATCCATCCTGATGGTTCATGAGGATGTGGGCACAGCC
TCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCC
ATCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAAG
GACTGTGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGCTTCACGA
GGACGTGGGCACAGCCTCTGTGTATGATGGGGACAGTGTCCCAGTGTCCT
GTGAGGTCCATCCATCCTGATGGCACATGAGGATGTGGACACAGCCTCTG
TGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCT
GATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCA
TGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATGAGGATG
TGGACACAGCCTCTGTGTGTG
 A
A
 1 a0001c0001t0001g0006
a0001c0001t0001g0006
 1 HG03540.hp1
HG03540.hp1
 intron_variant MODIFIER c.910+2115_911-3059d
others(2): Show 
c.910+2115_911-3059del
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 INFO_REALIGN_3_PRIME chrX 1638643
chrX:1638643
ATGATGGG
others(1558): Show 
ATGATGGGGACAGTGTCCCAGTGTCCTGTGAGGTCCATCCATCCTGATGG
CACATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCC
CAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCA
CAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTC
CACCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTG
ATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCATCCTGATGGCAC
ATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAG
CTCTCCTGTGAGGTCCATCCATCCTGATGATCCATGAGGATGTGGACACA
GCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCAT
CCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATA
GGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCAT
GAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTG
TCCTGTGAGATCCATCCATCCTGATGGTTCATGAGGATGTGGGCACAGCC
TCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCC
ATCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAAG
GACTGTGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGCTTCACGA
GGACGTGGGCACAGCCTCTGTGTATGATGGGGACAGTGTCCCAGTGTCCT
GTGAGGTCCATCCATCCTGATGGCACATGAGGATGTGGACACAGCCTCTG
TGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCT
GATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCA
TGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATGAGGATG
TGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTG
AGATCCATCCATCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGT
GTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGA
TGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTG
TCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGG
GCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAG
GTCCACCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGT
GTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCATCCTGATGG
CACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCC
CAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATGAGGATGTGGAC
ACAGCCTCTGTGTGTG
 A
A
 1 a0002c0002t0001g0074
a0002c0002t0001g0074
 1 NA21309.hp1
NA21309.hp1
 intron_variant MODIFIER c.910+2123_911-2556d
others(2): Show 
c.910+2123_911-2556del
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 INFO_REALIGN_3_PRIME chrX 1638643
chrX:1638648
G
G
 A
A
 1 a0001c0003t0001g0030
a0001c0003t0001g0030
 1 NA18947.hp1
NA18947.hp1
 intron_variant MODIFIER c.910+2088G>A
c.910+2088G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1638648
chrX:1638665
GTCCTGTG
others(653): Show 
GTCCTGTGAGGTCCATCCATCCTGATGGCACATGAGGATGTGGACACAGC
CTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCC
CTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGG
GACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATGA
GGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTC
CTGTGAGATCCATCCATCCTGATGGCACATGAGGATGTGGGCACAGCCTC
TGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCAT
CCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGA
CAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGA
TGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCT
GTGAGGTCCACCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTG
TGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCATCCT
GATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCA
TGTCCCAGCTC
 G
G
 1 a0002c0002t0001g0073
a0002c0002t0001g0073
 1 NA19003.hp1
NA19003.hp1
 intron_variant MODIFIER c.910+2148_910+2807d
others(2): Show 
c.910+2148_910+2807del
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 INFO_REALIGN_3_PRIME chrX 1638665
chrX:1638665
GTCCTGTG
others(736): Show 
GTCCTGTGAGGTCCATCCATCCTGATGGCACATGAGGATGTGGACACAGC
CTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCC
CTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGG
GACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATGA
GGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTC
CTGTGAGATCCATCCATCCTGATGGCACATGAGGATGTGGGCACAGCCTC
TGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCAT
CCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGA
CAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGA
TGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCT
GTGAGGTCCACCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTG
TGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCATCCT
GATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCA
TGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGGCACATGAGGATG
TGGGCACAGCCTCTGTGTGTGAGATAAGGACTGTGTCCCAGCTC
 G
G
 1 a0002c0002t0001g0009
a0002c0002t0001g0009
 1 HG02886.hp1
HG02886.hp1
 intron_variant MODIFIER c.910+2120_910+2862d
others(2): Show 
c.910+2120_910+2862del
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 INFO_REALIGN_3_PRIME chrX 1638665
chrX:1638675
G
G
 A
A
 5 a0001c0001t0001g0040
a0001c0001t0001g0128
a0001c0001t0002g0135
others(2): Show 
a0001c0001t0001g0040
a0001c0001t0001g0128
a0001c0001t0002g0135
a0001c0001t0002g0195
a0002c0002t0002g0183
 5 HG00099.hp1
HG01975.hp2
HG02615.hp2
others(2): Show 
HG00099.hp1
HG01975.hp2
HG02615.hp2
HG03704.hp2
NA20129.hp2
 intron_variant MODIFIER c.910+2115G>A
c.910+2115G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1638675
chrX:1638675
GTCCATCC
others(75): Show 
GTCCATCCATCCTGATGGCACATGAGGATGTGGACACAGCCTCTGTGTGT
GTGATGGGGACAGTGTCCCAGTGTCCTGTGAGA
 G
G
 1 a0002c0002t0002g0191
a0002c0002t0002g0191
 1 HG01517.hp2
HG01517.hp2
 intron_variant MODIFIER c.910+2123_910+2204d
others(84): Show 
c.910+2123_910+2204delATCCTGATGGCACATGAGGATGTGGACA
CAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCC
ATCC
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 INFO_REALIGN_3_PRIME chrX 1638675
chrX:1638675
GTCCATCC
others(570): Show 
GTCCATCCATCCTGATGGCACATGAGGATGTGGACACAGCCTCTGTGTGT
GTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGG
TTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCC
CAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATGAGGATGTGGAC
ACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATC
CATCCATCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTGAG
ATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGATC
CATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCA
GTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACA
GCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCA
CCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGAT
GGGGACAGTGTCCCAGTGTCCTGTGAGA
 G
G
 1 a0001c0003t0001g0022
a0001c0003t0001g0022
 1 NA18906.hp1
NA18906.hp1
 intron_variant MODIFIER c.910+2133_910+2709d
others(2): Show 
c.910+2133_910+2709del
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 INFO_REALIGN_3_PRIME chrX 1638675
chrX:1638675
GTCCATCC
others(1393): Show 
GTCCATCCATCCTGATGGCACATGAGGATGTGGACACAGCCTCTGTGTGT
GTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGG
TTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCC
CAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATGAGGATGTGGAC
ACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATC
CATCCATCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTGAG
ATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGATC
CATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCA
GTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACA
GCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCA
CCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGAT
GGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCATCCTGATGGTTCAT
GAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCT
CTCCTGTGAGGTCCATCCATCCTGATGGCACATGAGGATGTGGGCACAGC
CTCTGTGTGTGAGATAAGGACTGTGTCCCAGCTCTCCTGTGAGGTCCACC
CATCCTGATGCTTCACGAGGACGTGGGCACAGCCTCTGTGTATGATGGGG
ACAGTGTCCCAGTGTCCTGTGAGGTCCATCCATCCTGATGGCACATGAGG
ATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCT
GTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTG
TGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCC
TGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACA
GTGTCCCAGTGTCCTGTGAGATCCATCCATCCTGATGGCACATGAGGATG
TGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGT
GAGGTCCATCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTG
TGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGA
TGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATG
TCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATGAGGATGTG
GACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAG
A
 G
G
 1 a0001c0003t0001g0062
a0001c0003t0001g0062
 1 HG01975.hp1
HG01975.hp1
 intron_variant MODIFIER c.910+2148_911-2696d
others(2): Show 
c.910+2148_911-2696del
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 INFO_REALIGN_3_PRIME chrX 1638675
chrX:1638693
C
C
 T
T
 1 a0001c0001t0002g0134
a0001c0001t0002g0134
 1 HG02615.hp1
HG02615.hp1
 intron_variant MODIFIER c.910+2133C>T
c.910+2133C>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1638693
chrX:1638694
A
A
 T
T
 1 a0001c0001t0002g0134
a0001c0001t0002g0134
 1 HG02615.hp1
HG02615.hp1
 intron_variant MODIFIER c.910+2134A>T
c.910+2134A>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1638694
chrX:1638694
ACATGAGG
others(75): Show 
ACATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCC
AGTGTCCTGTGAGATCCATCCCTCCTGATGGTT
 A
A
 2 a0001c0001t0002g0135
a0001c0003t0001g0171
a0001c0001t0002g0135
a0001c0003t0001g0171
 2 HG02615.hp2
NA21309.hp2
HG02615.hp2
NA21309.hp2
 intron_variant MODIFIER c.910+2148_910+2229d
others(84): Show 
c.910+2148_910+2229delACACAGCCTCTGTGTGTGTGATGGGGAC
AGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGAT
GTGG
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 INFO_REALIGN_3_PRIME chrX 1638694
chrX:1638694
ACATGAGG
others(1558): Show 
ACATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCC
AGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCAC
AGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCC
ACCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGA
TGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCATCCTGATGGCACA
TGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGC
TCTCCTGTGAGGTCCATCCATCCTGATGATCCATGAGGATGTGGACACAG
CCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATC
CCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAG
GGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATG
AGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGT
CCTGTGAGATCCATCCATCCTGATGGTTCATGAGGATGTGGGCACAGCCT
CTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCA
TCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAAGG
ACTGTGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGCTTCACGAG
GACGTGGGCACAGCCTCTGTGTATGATGGGGACAGTGTCCCAGTGTCCTG
TGAGGTCCATCCATCCTGATGGCACATGAGGATGTGGACACAGCCTCTGT
GTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTG
ATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCAT
GTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATGAGGATGT
GGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGA
GATCCATCCATCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGTG
TGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGAT
GATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGT
CCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGG
CACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGG
TCCACCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTG
TGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCATCCTGATGGC
ACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCC
AGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATGAGGATGTGGACA
CAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGGTCC
ATCCCTCCTGATGGTT
 A
A
 1 a0001c0001t0002g0195
a0001c0001t0002g0195
 1 HG03704.hp2
HG03704.hp2
 intron_variant MODIFIER c.910+2148_911-2531d
others(2): Show 
c.910+2148_911-2531del
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 INFO_REALIGN_3_PRIME chrX 1638694
chrX:1638694
ACATGAGG
others(1723): Show 
ACATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCC
AGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCAC
AGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCC
ACCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGA
TGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCATCCTGATGGCACA
TGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGC
TCTCCTGTGAGGTCCATCCATCCTGATGATCCATGAGGATGTGGACACAG
CCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATC
CCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAG
GGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATG
AGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGT
CCTGTGAGATCCATCCATCCTGATGGTTCATGAGGATGTGGGCACAGCCT
CTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCA
TCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAAGG
ACTGTGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGCTTCACGAG
GACGTGGGCACAGCCTCTGTGTATGATGGGGACAGTGTCCCAGTGTCCTG
TGAGGTCCATCCATCCTGATGGCACATGAGGATGTGGACACAGCCTCTGT
GTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTG
ATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCAT
GTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATGAGGATGT
GGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGA
GATCCATCCATCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGTG
TGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGAT
GATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGT
CCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGG
CACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGG
TCCACCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTG
TGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCATCCTGATGGC
ACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCC
AGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATGAGGATGTGGACA
CAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGGTCC
ATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGA
TAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCC
ATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAG
TGTCCTGTGAGATCCATCCCTCCTGATGGTT
 A
A
 1 a0002c0002t0002g0183
a0002c0002t0002g0183
 1 NA20129.hp2
NA20129.hp2
 intron_variant MODIFIER c.910+2148_911-2366d
others(2): Show 
c.910+2148_911-2366del
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 INFO_REALIGN_3_PRIME chrX 1638694
chrX:1638694
ACATGAGG
others(2546): Show 
ACATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCC
AGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCAC
AGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCC
ACCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGA
TGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCATCCTGATGGCACA
TGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGC
TCTCCTGTGAGGTCCATCCATCCTGATGATCCATGAGGATGTGGACACAG
CCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATC
CCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAG
GGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATG
AGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGT
CCTGTGAGATCCATCCATCCTGATGGTTCATGAGGATGTGGGCACAGCCT
CTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCA
TCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAAGG
ACTGTGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGCTTCACGAG
GACGTGGGCACAGCCTCTGTGTATGATGGGGACAGTGTCCCAGTGTCCTG
TGAGGTCCATCCATCCTGATGGCACATGAGGATGTGGACACAGCCTCTGT
GTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTG
ATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCAT
GTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATGAGGATGT
GGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGA
GATCCATCCATCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGTG
TGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGAT
GATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGT
CCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGG
CACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGG
TCCACCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTG
TGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCATCCTGATGGC
ACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCC
AGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATGAGGATGTGGACA
CAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGGTCC
ATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGA
TAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCC
ATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAG
TGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAG
CCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCAC
CCATCCTGATGCTTCATGAGGACGTGGGCACAGCCTCTGTGTATGATGGG
GACAGTGTCCCAGTGTCCTGTGAGATCCATCCATCCTGATGGCACATGAG
GATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTC
CTGTGAGGTCCATCCATCCTGATGATCCATGAGGATGTGGACACAGCCTC
TGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTC
CTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGAC
CATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATGAGGA
TGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTG
TGAGATCCATCCATCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGT
GTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCT
GATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAG
TGTCCCAGTGTCCTGTGAGGTCCATCCCTCCTGATGGTTCATGAGGATGT
GGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTG
AGGTCCACCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGT
GTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGAT
GGTT
 A
A
 1 a0001c0003t0001g0030
a0001c0003t0001g0030
 1 NA18947.hp1
NA18947.hp1
 intron_variant MODIFIER c.910+2148_911-1543d
others(2): Show 
c.910+2148_911-1543del
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 INFO_REALIGN_3_PRIME chrX 1638694
chrX:1638708
A
A
 G
G
 1 a0001c0001t0002g0134
a0001c0001t0002g0134
 1 HG02615.hp1
HG02615.hp1
 intron_variant MODIFIER c.910+2148A>G
c.910+2148A>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1638708
chrX:1638726
TGATGGGG
others(1393): Show 
TGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGT
TCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCC
AGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATGAGGATGTGGACA
CAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCC
ATCCATCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGA
TAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGATCC
ATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAG
TGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAG
CCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCAC
CCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATG
GGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCATCCTGATGGTTCATG
AGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTC
TCCTGTGAGGTCCATCCATCCTGATGGCACATGAGGATGTGGGCACAGCC
TCTGTGTGTGAGATAAGGACTGTGTCCCAGCTCTCCTGTGAGGTCCACCC
ATCCTGATGCTTCACGAGGACGTGGGCACAGCCTCTGTGTATGATGGGGA
CAGTGTCCCAGTGTCCTGTGAGGTCCATCCATCCTGATGGCACATGAGGA
TGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTG
TGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGT
GTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCT
GATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAG
TGTCCCAGTGTCCTGTGAGATCCATCCATCCTGATGGCACATGAGGATGT
GGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTG
AGGTCCATCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGT
GTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGAT
GGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGT
CCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATGAGGATGTGG
ACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGA
TCCATCCATCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTG
A
 T
T
 2 a0001c0001t0001g0040
a0001c0001t0001g0128
a0001c0001t0001g0040
a0001c0001t0001g0128
 2 HG00099.hp1
HG01975.hp2
HG00099.hp1
HG01975.hp2
 intron_variant MODIFIER c.910+2170_911-2674d
others(2): Show 
c.910+2170_911-2674del
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 INFO_REALIGN_3_PRIME chrX 1638726
chrX:1638757
A
A
 G
G
 1 a0001c0001t0002g0134
a0001c0001t0002g0134
 1 HG02615.hp1
HG02615.hp1
 intron_variant MODIFIER c.910+2197A>G
c.910+2197A>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1638757
chrX:1638774
G
G
 A
A
 1 a0001c0001t0001g0215
a0001c0001t0001g0215
 1 HG01884.hp1
HG01884.hp1
 intron_variant MODIFIER c.910+2214G>A
c.910+2214G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1638774
chrX:1638776
T
T
 C
C
 1 a0001c0001t0001g0215
a0001c0001t0001g0215
 1 HG01884.hp1
HG01884.hp1
 intron_variant MODIFIER c.910+2216T>C
c.910+2216T>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1638776
chrX:1638780
G
G
 T
T
 1 a0001c0001t0001g0215
a0001c0001t0001g0215
 1 HG01884.hp1
HG01884.hp1
 intron_variant MODIFIER c.910+2220G>T
c.910+2220G>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1638780
chrX:1638827
GC
GC
 G
G
 1 a0001c0001t0001g0215
a0001c0001t0001g0215
 1 HG01884.hp1
HG01884.hp1
 intron_variant MODIFIER c.910+2268delC
c.910+2268delC
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1638827
chrX:1638830
C
C
 G
G
 1 a0001c0001t0001g0215
a0001c0001t0001g0215
 1 HG01884.hp1
HG01884.hp1
 intron_variant MODIFIER c.910+2270C>G
c.910+2270C>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1638830
chrX:1638847
C
C
 T
T
 1 a0001c0001t0001g0215
a0001c0001t0001g0215
 1 HG01884.hp1
HG01884.hp1
 intron_variant MODIFIER c.910+2287C>T
c.910+2287C>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1638847
chrX:1638857
A
A
 G
G
 1 a0001c0001t0001g0215
a0001c0001t0001g0215
 1 HG01884.hp1
HG01884.hp1
 intron_variant MODIFIER c.910+2297A>G
c.910+2297A>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1638857
chrX:1638863
G
G
 T
T
 2 a0001c0001t0002g0134
a0001c0003t0001g0171
a0001c0001t0002g0134
a0001c0003t0001g0171
 2 HG02615.hp1
NA21309.hp2
HG02615.hp1
NA21309.hp2
 intron_variant MODIFIER c.910+2303G>T
c.910+2303G>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1638863
chrX:1638864
A
A
 G
G
 1 a0001c0001t0002g0134
a0001c0001t0002g0134
 1 HG02615.hp1
HG02615.hp1
 intron_variant MODIFIER c.910+2304A>G
c.910+2304A>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1638864
chrX:1638868
T
T
 C
C
 2 a0001c0001t0001g0215
a0001c0001t0002g0135
a0001c0001t0001g0215
a0001c0001t0002g0135
 2 HG01884.hp1
HG02615.hp2
HG01884.hp1
HG02615.hp2
 intron_variant MODIFIER c.910+2308T>C
c.910+2308T>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1638868
chrX:1638873
A
A
 G
G
 2 a0001c0001t0002g0135
a0001c0003t0001g0171
a0001c0001t0002g0135
a0001c0003t0001g0171
 2 HG02615.hp2
NA21309.hp2
HG02615.hp2
NA21309.hp2
 intron_variant MODIFIER c.910+2313A>G
c.910+2313A>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1638873
chrX:1638881
T
T
 G
G
 1 a0001c0001t0001g0215
a0001c0001t0001g0215
 1 HG01884.hp1
HG01884.hp1
 intron_variant MODIFIER c.910+2321T>G
c.910+2321T>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1638881
chrX:1638882
CTG
CTG
 C
C
 1 a0001c0001t0002g0135
a0001c0001t0002g0135
 1 HG02615.hp2
HG02615.hp2
 intron_variant MODIFIER c.910+2331_910+2332d
others(4): Show 
c.910+2331_910+2332delTG
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 INFO_REALIGN_3_PRIME chrX 1638882
chrX:1638884
G
G
 C
C
 1 a0001c0001t0001g0215
a0001c0001t0001g0215
 1 HG01884.hp1
HG01884.hp1
 intron_variant MODIFIER c.910+2324G>C
c.910+2324G>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1638884
chrX:1638890
G
G
 A
A
 1 a0001c0001t0002g0135
a0001c0001t0002g0135
 1 HG02615.hp2
HG02615.hp2
 intron_variant MODIFIER c.910+2330G>A
c.910+2330G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1638890
chrX:1638902
GTGTCCCA
others(240): Show 
GTGTCCCAGTGTCCTGTGAGATCCATCCATCCTGATGGCACATGAGGATG
TGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGT
GAGGTCCATCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTG
TGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGA
TGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCA
 G
G
 1 a0001c0001t0001g0215
a0001c0001t0001g0215
 1 HG01884.hp1
HG01884.hp1
 intron_variant MODIFIER c.910+2351_910+2597d
others(2): Show 
c.910+2351_910+2597del
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 INFO_REALIGN_3_PRIME chrX 1638902
chrX:1638912
GTCCTGTG
others(76): Show 
GTCCTGTGAGATCCATCCATCCTGATGGCACATGAGGATGTGGGCACAGC
CTCTGTGTGTGAGATAGGGACCATGTCCCAGCTC
 G
G
 1 a0001c0001t0002g0134
a0001c0001t0002g0134
 1 HG02615.hp1
HG02615.hp1
 intron_variant MODIFIER c.910+2362_910+2444d
others(85): Show 
c.910+2362_910+2444delATCCATCCATCCTGATGGCACATGAGGA
TGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCT
GTGAG
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 INFO_REALIGN_3_PRIME chrX 1638912
chrX:1638922
A
A
 G
G
 2 a0001c0001t0002g0135
a0001c0003t0001g0171
a0001c0001t0002g0135
a0001c0003t0001g0171
 2 HG02615.hp2
NA21309.hp2
HG02615.hp2
NA21309.hp2
 intron_variant MODIFIER c.910+2362A>G
c.910+2362A>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1638922
chrX:1638927
T
T
 C
C
 1 a0001c0001t0002g0135
a0001c0001t0002g0135
 1 HG02615.hp2
HG02615.hp2
 intron_variant MODIFIER c.910+2367T>C
c.910+2367T>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1638927
chrX:1638929
C
C
 T
T
 1 a0001c0001t0002g0135
a0001c0001t0002g0135
 1 HG02615.hp2
HG02615.hp2
 intron_variant MODIFIER c.910+2369C>T
c.910+2369C>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1638929
chrX:1638930
A
A
 C
C
 1 a0001c0003t0001g0171
a0001c0003t0001g0171
 1 NA21309.hp2
NA21309.hp2
 intron_variant MODIFIER c.910+2370A>C
c.910+2370A>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1638930
chrX:1638933
C
C
 G
G
 1 a0001c0001t0002g0196
a0001c0001t0002g0196
 1 HG01123.hp1
HG01123.hp1
 intron_variant MODIFIER c.910+2373C>G
c.910+2373C>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1638933
chrX:1638940
C
C
 T
T
 2 a0001c0001t0002g0135
a0001c0003t0001g0171
a0001c0001t0002g0135
a0001c0003t0001g0171
 2 HG02615.hp2
NA21309.hp2
HG02615.hp2
NA21309.hp2
 intron_variant MODIFIER c.910+2380C>T
c.910+2380C>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1638940
chrX:1638941
A
A
 C
C
 1 a0001c0001t0002g0135
a0001c0001t0002g0135
 1 HG02615.hp2
HG02615.hp2
 intron_variant MODIFIER c.910+2381A>C
c.910+2381A>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1638941
chrX:1638941
A
A
 T
T
 1 a0001c0003t0001g0171
a0001c0003t0001g0171
 1 NA21309.hp2
NA21309.hp2
 intron_variant MODIFIER c.910+2381A>T
c.910+2381A>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1638941
chrX:1638941
ACATGAGG
others(1311): Show 
ACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCC
AGCTCTCCTGTGAGGTCCATCCATCCTGATGATCCATGAGGATGTGGACA
CAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCC
ATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGA
TAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCC
ATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAG
TGTCCTGTGAGATCCATCCATCCTGATGGTTCATGAGGATGTGGGCACAG
CCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCAT
CCATCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATA
AGGACTGTGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGCTTCAC
GAGGACGTGGGCACAGCCTCTGTGTATGATGGGGACAGTGTCCCAGTGTC
CTGTGAGGTCCATCCATCCTGATGGCACATGAGGATGTGGACACAGCCTC
TGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTC
CTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGAC
CATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATGAGGA
TGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTG
TGAGATCCATCCATCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGT
GTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCT
GATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAG
TGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGT
GGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTG
AGGTCCACCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGT
GTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCATCCTGAT
GGCACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGT
CCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATGAGGATGTGG
ACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGG
TCCATCCCTCCTGATGGTT
 A
A
 1 a0001c0001t0002g0196
a0001c0001t0002g0196
 1 HG01123.hp1
HG01123.hp1
 intron_variant MODIFIER c.910+2450_911-2476d
others(2): Show 
c.910+2450_911-2476del
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 INFO_REALIGN_3_PRIME chrX 1638941
chrX:1638950
T
T
 C
C
 1 a0001c0001t0002g0135
a0001c0001t0002g0135
 1 HG02615.hp2
HG02615.hp2
 intron_variant MODIFIER c.910+2390T>C
c.910+2390T>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1638950
chrX:1638955
G
G
 A
A
 1 a0001c0001t0002g0135
a0001c0001t0002g0135
 1 HG02615.hp2
HG02615.hp2
 intron_variant MODIFIER c.910+2395G>A
c.910+2395G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1638955
chrX:1638961
C
C
 CCG
CCG
 1 a0001c0001t0002g0135
a0001c0001t0002g0135
 1 HG02615.hp2
HG02615.hp2
 intron_variant MODIFIER c.910+2402_910+2403i
others(4): Show 
c.910+2402_910+2403insGC
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 INFO_REALIGN_3_PRIME chrX 1638961
chrX:1638970
G
G
 A
A
 1 a0001c0001t0002g0157
a0001c0001t0002g0157
 1 HG00735.hp2
HG00735.hp2
 intron_variant MODIFIER c.910+2410G>A
c.910+2410G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1638970
chrX:1638971
TGA
TGA
 T
T
 1 a0001c0001t0002g0157
a0001c0001t0002g0157
 1 HG00735.hp2
HG00735.hp2
 intron_variant MODIFIER c.910+2414_910+2415d
others(4): Show 
c.910+2414_910+2415delGA
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 INFO_REALIGN_3_PRIME chrX 1638971
chrX:1638977
A
A
 G
G
 1 a0001c0001t0002g0157
a0001c0001t0002g0157
 1 HG00735.hp2
HG00735.hp2
 intron_variant MODIFIER c.910+2417A>G
c.910+2417A>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1638977
chrX:1638978
G
G
 A
A
 1 a0001c0001t0002g0135
a0001c0001t0002g0135
 1 HG02615.hp2
HG02615.hp2
 intron_variant MODIFIER c.910+2418G>A
c.910+2418G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1638978
chrX:1638983
C
C
 T
T
 1 a0001c0001t0002g0135
a0001c0001t0002g0135
 1 HG02615.hp2
HG02615.hp2
 intron_variant MODIFIER c.910+2423C>T
c.910+2423C>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1638983
chrX:1638984
A
A
 G
G
 1 a0001c0001t0002g0135
a0001c0001t0002g0135
 1 HG02615.hp2
HG02615.hp2
 intron_variant MODIFIER c.910+2424A>G
c.910+2424A>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1638984
chrX:1639010
T
T
 C
C
 6 a0001c0001t0001g0083
a0001c0001t0002g0134
a0001c0001t0002g0135
others(3): Show 
a0001c0001t0001g0083
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0002g0157
a0001c0003t0001g0171
a0002c0002t0002g0191
 6 HG00735.hp2
HG01517.hp2
HG02257.hp2
others(3): Show 
HG00735.hp2
HG01517.hp2
HG02257.hp2
HG02615.hp1
HG02615.hp2
NA21309.hp2
 intron_variant MODIFIER c.910+2450T>C
c.910+2450T>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1639010
chrX:1639012
C
C
 T
T
 1 a0001c0001t0002g0134
a0001c0001t0002g0134
 1 HG02615.hp1
HG02615.hp1
 intron_variant MODIFIER c.910+2452C>T
c.910+2452C>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1639012
chrX:1639022
A
A
 G
G
 1 a0001c0001t0002g0134
a0001c0001t0002g0134
 1 HG02615.hp1
HG02615.hp1
 intron_variant MODIFIER c.910+2462A>G
c.910+2462A>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1639022
chrX:1639028
G
G
 T
T
 2 a0001c0003t0001g0171
a0002c0002t0002g0191
a0001c0003t0001g0171
a0002c0002t0002g0191
 2 HG01517.hp2
NA21309.hp2
HG01517.hp2
NA21309.hp2
 intron_variant MODIFIER c.910+2468G>T
c.910+2468G>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1639028
chrX:1639033
T
T
 C
C
 2 a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0002g0134
a0001c0001t0002g0135
 2 HG02615.hp1
HG02615.hp2
HG02615.hp1
HG02615.hp2
 intron_variant MODIFIER c.910+2473T>C
c.910+2473T>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1639033
chrX:1639038
A
A
 G
G
 1 a0001c0001t0002g0135
a0001c0001t0002g0135
 1 HG02615.hp2
HG02615.hp2
 intron_variant MODIFIER c.910+2478A>G
c.910+2478A>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1639038
chrX:1639046
T
T
 G
G
 1 a0001c0001t0002g0134
a0001c0001t0002g0134
 1 HG02615.hp1
HG02615.hp1
 intron_variant MODIFIER c.910+2486T>G
c.910+2486T>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1639046
chrX:1639047
CTG
CTG
 C
C
 1 a0001c0001t0002g0135
a0001c0001t0002g0135
 1 HG02615.hp2
HG02615.hp2
 intron_variant MODIFIER c.910+2496_910+2497d
others(4): Show 
c.910+2496_910+2497delTG
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 INFO_REALIGN_3_PRIME chrX 1639047
chrX:1639049
G
G
 C
C
 1 a0001c0001t0002g0134
a0001c0001t0002g0134
 1 HG02615.hp1
HG02615.hp1
 intron_variant MODIFIER c.910+2489G>C
c.910+2489G>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1639049
chrX:1639055
G
G
 A
A
 1 a0001c0001t0002g0135
a0001c0001t0002g0135
 1 HG02615.hp2
HG02615.hp2
 intron_variant MODIFIER c.910+2495G>A
c.910+2495G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1639055
chrX:1639056
TGATGGGG
others(1063): Show 
TGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGT
TCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCC
AGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATGAGGATGTGGACA
CAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCC
ATCCATCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGA
TAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGGCAC
ATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAAGGACTGTGTCCCAG
CTCTCCTGTGAGGTCCACCCATCCTGATGCTTCACGAGGACGTGGGCACA
GCCTCTGTGTATGATGGGGACAGTGTCCCAGTGTCCTGTGAGGTCCATCC
ATCCTGATGGCACATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGG
GACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAG
GATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTC
CTGTGAGGTCCACCCATCCTGATGATCCATGAGGATGTGGACACAGCCTC
TGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCATC
CTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGAC
CATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGATCCATGAGGA
TGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTG
TGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGT
GTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCT
GATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAG
TGTCCCAGTGTCCTGTGAGATCCATCCATCCTGATGGCACATGAGGATGT
GGGCACAGCCTCTGTGTGTGA
 T
T
 1 a0002c0002t0002g0191
a0002c0002t0002g0191
 1 HG01517.hp2
HG01517.hp2
 intron_variant MODIFIER c.910+2500_911-2674d
others(2): Show 
c.910+2500_911-2674del
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 INFO_REALIGN_3_PRIME chrX 1639056
chrX:1639075
G
G
 GC
GC
 1 a0001c0001t0002g0134
a0001c0001t0002g0134
 1 HG02615.hp1
HG02615.hp1
 intron_variant MODIFIER c.910+2515_910+2516i
others(3): Show 
c.910+2515_910+2516insC
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1639075
chrX:1639077
G
G
 C
C
 1 a0001c0001t0002g0134
a0001c0001t0002g0134
 1 HG02615.hp1
HG02615.hp1
 intron_variant MODIFIER c.910+2517G>C
c.910+2517G>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1639077
chrX:1639087
A
A
 G
G
 4 a0001c0001t0002g0134
a0001c0001t0002g0157
a0001c0003t0001g0171
others(1): Show 
a0001c0001t0002g0134
a0001c0001t0002g0157
a0001c0003t0001g0171
a0002c0002t0002g0188
 4 HG00735.hp2
HG02615.hp1
HG03669.hp1
others(1): Show 
HG00735.hp2
HG02615.hp1
HG03669.hp1
NA21309.hp2
 intron_variant MODIFIER c.910+2527A>G
c.910+2527A>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1639087
chrX:1639092
T
T
 C
C
 1 a0001c0003t0001g0171
a0001c0003t0001g0171
 1 NA21309.hp2
NA21309.hp2
 intron_variant MODIFIER c.910+2532T>C
c.910+2532T>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1639092
chrX:1639094
C
C
 T
T
 1 a0001c0003t0001g0171
a0001c0003t0001g0171
 1 NA21309.hp2
NA21309.hp2
 intron_variant MODIFIER c.910+2534C>T
c.910+2534C>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1639094
chrX:1639095
C
C
 A
A
 3 a0001c0001t0001g0083
a0001c0001t0002g0134
a0001c0003t0001g0171
a0001c0001t0001g0083
a0001c0001t0002g0134
a0001c0003t0001g0171
 3 HG02257.hp2
HG02615.hp1
NA21309.hp2
HG02257.hp2
HG02615.hp1
NA21309.hp2
 intron_variant MODIFIER c.910+2535C>A
c.910+2535C>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1639095
chrX:1639105
T
T
 C
C
 2 a0001c0001t0001g0083
a0001c0001t0002g0157
a0001c0001t0001g0083
a0001c0001t0002g0157
 2 HG00735.hp2
HG02257.hp2
HG00735.hp2
HG02257.hp2
 intron_variant MODIFIER c.910+2545T>C
c.910+2545T>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1639105
chrX:1639106
T
T
 A
A
 2 a0001c0001t0001g0083
a0001c0001t0002g0157
a0001c0001t0001g0083
a0001c0001t0002g0157
 2 HG00735.hp2
HG02257.hp2
HG00735.hp2
HG02257.hp2
 intron_variant MODIFIER c.910+2546T>A
c.910+2546T>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1639106
chrX:1639106
T
T
 C
C
 1 a0001c0003t0001g0171
a0001c0003t0001g0171
 1 NA21309.hp2
NA21309.hp2
 intron_variant MODIFIER c.910+2546T>C
c.910+2546T>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1639106
chrX:1639106
TCATGAGG
others(241): Show 
TCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCC
AGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATGAGGATGTGGACA
CAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCC
ATCCATCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGA
TAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGGCA
 T
T
 1 a0002c0002t0002g0188
a0002c0002t0002g0188
 1 HG03669.hp1
HG03669.hp1
 intron_variant MODIFIER c.910+2583_910+2830d
others(2): Show 
c.910+2583_910+2830del
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 INFO_REALIGN_3_PRIME chrX 1639106
chrX:1639115
T
T
 C
C
 2 a0001c0001t0002g0134
a0001c0003t0001g0171
a0001c0001t0002g0134
a0001c0003t0001g0171
 2 HG02615.hp1
NA21309.hp2
HG02615.hp1
NA21309.hp2
 intron_variant MODIFIER c.910+2555T>C
c.910+2555T>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1639115
chrX:1639119
G
G
 A
A
 1 a0001c0001t0002g0134
a0001c0001t0002g0134
 1 HG02615.hp1
HG02615.hp1
 intron_variant MODIFIER c.910+2559G>A
c.910+2559G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1639119
chrX:1639120
G
G
 A
A
 1 a0001c0003t0001g0171
a0001c0003t0001g0171
 1 NA21309.hp2
NA21309.hp2
 intron_variant MODIFIER c.910+2560G>A
c.910+2560G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1639120
chrX:1639128
T
T
 G
G
 1 a0001c0003t0001g0171
a0001c0003t0001g0171
 1 NA21309.hp2
NA21309.hp2
 intron_variant MODIFIER c.910+2568T>G
c.910+2568T>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1639128
chrX:1639131
G
G
 C
C
 1 a0001c0003t0001g0171
a0001c0003t0001g0171
 1 NA21309.hp2
NA21309.hp2
 intron_variant MODIFIER c.910+2571G>C
c.910+2571G>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1639131
chrX:1639138
A
A
 T
T
 2 a0001c0001t0002g0134
a0001c0003t0001g0171
a0001c0001t0002g0134
a0001c0003t0001g0171
 2 HG02615.hp1
NA21309.hp2
HG02615.hp1
NA21309.hp2
 intron_variant MODIFIER c.910+2578A>T
c.910+2578A>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1639138
chrX:1639140
A
A
 T
T
 1 a0001c0001t0002g0134
a0001c0001t0002g0134
 1 HG02615.hp1
HG02615.hp1
 intron_variant MODIFIER c.910+2580A>T
c.910+2580A>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1639140
chrX:1639142
A
A
 G
G
 2 a0001c0001t0002g0134
a0001c0003t0001g0171
a0001c0001t0002g0134
a0001c0003t0001g0171
 2 HG02615.hp1
NA21309.hp2
HG02615.hp1
NA21309.hp2
 intron_variant MODIFIER c.910+2582A>G
c.910+2582A>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1639142
chrX:1639143
G
G
 A
A
 1 a0001c0001t0002g0135
a0001c0001t0002g0135
 1 HG02615.hp2
HG02615.hp2
 intron_variant MODIFIER c.910+2583G>A
c.910+2583G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1639143
chrX:1639148
C
C
 A
A
 2 a0001c0001t0002g0134
a0001c0003t0001g0171
a0001c0001t0002g0134
a0001c0003t0001g0171
 2 HG02615.hp1
NA21309.hp2
HG02615.hp1
NA21309.hp2
 intron_variant MODIFIER c.910+2588C>A
c.910+2588C>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1639148
chrX:1639148
C
C
 T
T
 1 a0001c0001t0002g0135
a0001c0001t0002g0135
 1 HG02615.hp2
HG02615.hp2
 intron_variant MODIFIER c.910+2588C>T
c.910+2588C>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1639148
chrX:1639149
A
A
 G
G
 3 a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0003t0001g0171
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0003t0001g0171
 3 HG02615.hp1
HG02615.hp2
NA21309.hp2
HG02615.hp1
HG02615.hp2
NA21309.hp2
 intron_variant MODIFIER c.910+2589A>G
c.910+2589A>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1639149
chrX:1639158
C
C
 T
T
 1 a0001c0001t0002g0134
a0001c0001t0002g0134
 1 HG02615.hp1
HG02615.hp1
 intron_variant MODIFIER c.910+2598C>T
c.910+2598C>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1639158
chrX:1639175
C
C
 T
T
 1 a0001c0001t0001g0215
a0001c0001t0001g0215
 1 HG01884.hp1
HG01884.hp1
 intron_variant MODIFIER c.910+2615C>T
c.910+2615C>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1639175
chrX:1639187
A
A
 G
G
 3 a0001c0001t0001g0215
a0001c0001t0002g0134
a0001c0003t0001g0171
a0001c0001t0001g0215
a0001c0001t0002g0134
a0001c0003t0001g0171
 3 HG01884.hp1
HG02615.hp1
NA21309.hp2
HG01884.hp1
HG02615.hp1
NA21309.hp2
 intron_variant MODIFIER c.910+2627A>G
c.910+2627A>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1639187
chrX:1639189
C
C
 T
T
 3 a0001c0001t0001g0215
a0001c0001t0002g0134
a0001c0003t0001g0171
a0001c0001t0001g0215
a0001c0001t0002g0134
a0001c0003t0001g0171
 3 HG01884.hp1
HG02615.hp1
NA21309.hp2
HG01884.hp1
HG02615.hp1
NA21309.hp2
 intron_variant MODIFIER c.910+2629C>T
c.910+2629C>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1639189
chrX:1639189
CCATGAGG
others(321): Show 
CCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCC
AGTGTCCTGTGAGATCCATCCATCCTGATGGTTCATGAGGATGTGGGCAC
AGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCC
ATCCATCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGA
TAAGGACTGTGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGCTTC
ACGAGGACGTGGGCACAGCCTCTGTGTATGATGGGGACAGTGTCCCAGTG
TCCTGTGAGGTCCATCCATCCTGATGGCA
 C
C
 1 a0001c0001t0001g0083
a0001c0001t0001g0083
 1 HG02257.hp2
HG02257.hp2
 intron_variant MODIFIER c.910+2700_910+3027d
others(2): Show 
c.910+2700_910+3027del
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 INFO_REALIGN_3_PRIME chrX 1639189
chrX:1639194
A
A
 G
G
 1 a0001c0001t0001g0215
a0001c0001t0001g0215
 1 HG01884.hp1
HG01884.hp1
 intron_variant MODIFIER c.910+2634A>G
c.910+2634A>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1639194
chrX:1639198
T
T
 C
C
 3 a0001c0001t0001g0215
a0001c0001t0002g0135
a0001c0003t0001g0171
a0001c0001t0001g0215
a0001c0001t0002g0135
a0001c0003t0001g0171
 3 HG01884.hp1
HG02615.hp2
NA21309.hp2
HG01884.hp1
HG02615.hp2
NA21309.hp2
 intron_variant MODIFIER c.910+2638T>C
c.910+2638T>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1639198
chrX:1639202
G
G
 A
A
 2 a0001c0001t0001g0215
a0001c0003t0001g0171
a0001c0001t0001g0215
a0001c0003t0001g0171
 2 HG01884.hp1
NA21309.hp2
HG01884.hp1
NA21309.hp2
 intron_variant MODIFIER c.910+2642G>A
c.910+2642G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1639202
chrX:1639203
A
A
 G
G
 4 a0001c0001t0001g0215
a0001c0001t0002g0134
a0001c0001t0002g0135
others(1): Show 
a0001c0001t0001g0215
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0003t0001g0171
 4 HG01884.hp1
HG02615.hp1
HG02615.hp2
others(1): Show 
HG01884.hp1
HG02615.hp1
HG02615.hp2
NA21309.hp2
 intron_variant MODIFIER c.910+2643A>G
c.910+2643A>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1639203
chrX:1639212
CTG
CTG
 C
C
 1 a0001c0001t0002g0135
a0001c0001t0002g0135
 1 HG02615.hp2
HG02615.hp2
 intron_variant MODIFIER c.910+2661_910+2662d
others(4): Show 
c.910+2661_910+2662delTG
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 INFO_REALIGN_3_PRIME chrX 1639212
chrX:1639220
G
G
 A
A
 1 a0001c0001t0002g0135
a0001c0001t0002g0135
 1 HG02615.hp2
HG02615.hp2
 intron_variant MODIFIER c.910+2660G>A
c.910+2660G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1639220
chrX:1639223
A
A
 T
T
 2 a0001c0001t0001g0215
a0001c0003t0001g0171
a0001c0001t0001g0215
a0001c0003t0001g0171
 2 HG01884.hp1
NA21309.hp2
HG01884.hp1
NA21309.hp2
 intron_variant MODIFIER c.910+2663A>T
c.910+2663A>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1639223
chrX:1639240
G
G
 GT
GT
 2 a0001c0001t0001g0215
a0001c0003t0001g0171
a0001c0001t0001g0215
a0001c0003t0001g0171
 2 HG01884.hp1
NA21309.hp2
HG01884.hp1
NA21309.hp2
 intron_variant MODIFIER c.910+2681dupT
c.910+2681dupT
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 INFO_REALIGN_3_PRIME chrX 1639240
chrX:1639242
G
G
 C
C
 2 a0001c0001t0001g0215
a0001c0003t0001g0171
a0001c0001t0001g0215
a0001c0003t0001g0171
 2 HG01884.hp1
NA21309.hp2
HG01884.hp1
NA21309.hp2
 intron_variant MODIFIER c.910+2682G>C
c.910+2682G>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1639242
chrX:1639252
A
A
 G
G
 4 a0001c0001t0001g0215
a0001c0001t0002g0134
a0001c0001t0002g0157
others(1): Show 
a0001c0001t0001g0215
a0001c0001t0002g0134
a0001c0001t0002g0157
a0001c0003t0001g0171
 4 HG00735.hp2
HG01884.hp1
HG02615.hp1
others(1): Show 
HG00735.hp2
HG01884.hp1
HG02615.hp1
NA21309.hp2
 intron_variant MODIFIER c.910+2692A>G
c.910+2692A>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1639252
chrX:1639257
T
T
 C
C
 3 a0001c0001t0001g0215
a0001c0001t0002g0134
a0001c0003t0001g0171
a0001c0001t0001g0215
a0001c0001t0002g0134
a0001c0003t0001g0171
 3 HG01884.hp1
HG02615.hp1
NA21309.hp2
HG01884.hp1
HG02615.hp1
NA21309.hp2
 intron_variant MODIFIER c.910+2697T>C
c.910+2697T>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1639257
chrX:1639260
A
A
 C
C
 2 a0001c0001t0002g0135
a0001c0001t0002g0157
a0001c0001t0002g0135
a0001c0001t0002g0157
 2 HG00735.hp2
HG02615.hp2
HG00735.hp2
HG02615.hp2
 intron_variant MODIFIER c.910+2700A>C
c.910+2700A>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1639260
chrX:1639266
A
A
 G
G
 1 a0001c0001t0002g0134
a0001c0001t0002g0134
 1 HG02615.hp1
HG02615.hp1
 intron_variant MODIFIER c.910+2706A>G
c.910+2706A>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1639266
chrX:1639270
T
T
 C
C
 1 a0001c0001t0002g0157
a0001c0001t0002g0157
 1 HG00735.hp2
HG00735.hp2
 intron_variant MODIFIER c.910+2710T>C
c.910+2710T>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1639270
chrX:1639271
T
T
 A
A
 1 a0001c0001t0002g0157
a0001c0001t0002g0157
 1 HG00735.hp2
HG00735.hp2
 intron_variant MODIFIER c.910+2711T>A
c.910+2711T>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1639271
chrX:1639271
T
T
 C
C
 1 a0001c0001t0002g0134
a0001c0001t0002g0134
 1 HG02615.hp1
HG02615.hp1
 intron_variant MODIFIER c.910+2711T>C
c.910+2711T>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1639271
chrX:1639271
TCATGAGG
others(76): Show 
TCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCC
AGCTCTCCTGTGAGGTCCATCCATCCTGATGGCA
 T
T
 1 a0001c0001t0002g0135
a0001c0001t0002g0135
 1 HG02615.hp2
HG02615.hp2
 intron_variant MODIFIER c.910+2748_910+2830d
others(85): Show 
c.910+2748_910+2830delGGGACCATGTCCCAGCTCTCCTGTGAGG
TCCATCCATCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTG
AGATA
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 INFO_REALIGN_3_PRIME chrX 1639271
chrX:1639278
G
G
 T
T
 1 a0001c0001t0002g0134
a0001c0001t0002g0134
 1 HG02615.hp1
HG02615.hp1
 intron_variant MODIFIER c.910+2718G>T
c.910+2718G>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1639278
chrX:1639280
T
T
 C
C
 1 a0001c0001t0002g0134
a0001c0001t0002g0134
 1 HG02615.hp1
HG02615.hp1
 intron_variant MODIFIER c.910+2720T>C
c.910+2720T>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1639280
chrX:1639281
G
G
 A
A
 1 a0001c0001t0002g0134
a0001c0001t0002g0134
 1 HG02615.hp1
HG02615.hp1
 intron_variant MODIFIER c.910+2721G>A
c.910+2721G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1639281
chrX:1639285
G
G
 A
A
 2 a0001c0001t0002g0134
a0001c0003t0001g0171
a0001c0001t0002g0134
a0001c0003t0001g0171
 2 HG02615.hp1
NA21309.hp2
HG02615.hp1
NA21309.hp2
 intron_variant MODIFIER c.910+2725G>A
c.910+2725G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1639285
chrX:1639296
G
G
 C
C
 1 a0001c0001t0002g0134
a0001c0001t0002g0134
 1 HG02615.hp1
HG02615.hp1
 intron_variant MODIFIER c.910+2736G>C
c.910+2736G>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1639296
chrX:1639301
TGA
TGA
 T
T
 3 a0001c0001t0001g0215
a0001c0003t0001g0022
a0001c0003t0001g0171
a0001c0001t0001g0215
a0001c0003t0001g0022
a0001c0003t0001g0171
 3 HG01884.hp1
NA18906.hp1
NA21309.hp2
HG01884.hp1
NA18906.hp1
NA21309.hp2
 intron_variant MODIFIER c.910+2744_910+2745d
others(4): Show 
c.910+2744_910+2745delGA
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 INFO_REALIGN_3_PRIME chrX 1639301
chrX:1639307
A
A
 G
G
 5 a0001c0001t0001g0215
a0001c0001t0002g0134
a0001c0001t0002g0147
others(2): Show 
a0001c0001t0001g0215
a0001c0001t0002g0134
a0001c0001t0002g0147
a0001c0003t0001g0022
a0001c0003t0001g0171
 5 HG01884.hp1
HG02615.hp1
NA18906.hp1
others(2): Show 
HG01884.hp1
HG02615.hp1
NA18906.hp1
NA18954.hp1
NA21309.hp2
 intron_variant MODIFIER c.910+2747A>G
c.910+2747A>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1639307
chrX:1639313
C
C
 A
A
 5 a0001c0001t0001g0215
a0001c0001t0002g0134
a0001c0001t0002g0147
others(2): Show 
a0001c0001t0001g0215
a0001c0001t0002g0134
a0001c0001t0002g0147
a0001c0003t0001g0022
a0001c0003t0001g0171
 5 HG01884.hp1
HG02615.hp1
NA18906.hp1
others(2): Show 
HG01884.hp1
HG02615.hp1
NA18906.hp1
NA18954.hp1
NA21309.hp2
 intron_variant MODIFIER c.910+2753C>A
c.910+2753C>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1639313
chrX:1639314
A
A
 G
G
 5 a0001c0001t0001g0215
a0001c0001t0002g0134
a0001c0001t0002g0147
others(2): Show 
a0001c0001t0001g0215
a0001c0001t0002g0134
a0001c0001t0002g0147
a0001c0003t0001g0022
a0001c0003t0001g0171
 5 HG01884.hp1
HG02615.hp1
NA18906.hp1
others(2): Show 
HG01884.hp1
HG02615.hp1
NA18906.hp1
NA18954.hp1
NA21309.hp2
 intron_variant MODIFIER c.910+2754A>G
c.910+2754A>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1639314
chrX:1639323
C
C
 T
T
 1 a0001c0001t0002g0134
a0001c0001t0002g0134
 1 HG02615.hp1
HG02615.hp1
 intron_variant MODIFIER c.910+2763C>T
c.910+2763C>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1639323
chrX:1639325
C
C
 G
G
 30 a0001c0001t0001g0025
a0001c0001t0001g0058
a0001c0001t0001g0061
others(27): Show 
a0001c0001t0001g0025
a0001c0001t0001g0058
a0001c0001t0001g0061
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0068
a0001c0001t0001g0077
a0001c0001t0001g0114
a0001c0001t0002g0039
a0001c0001t0002g0120
a0001c0001t0002g0167
a0001c0001t0002g0176
a0001c0001t0002g0201
a0001c0003t0001g0032
a0001c0003t0001g0033
a0001c0003t0001g0113
a0001c0003t0002g0177
a0002c0002t0001g0055
a0002c0002t0001g0066
a0002c0002t0001g0125
a0002c0002t0001g0185
a0002c0002t0001g0220
a0002c0002t0002g0112
a0002c0002t0002g0131
a0002c0002t0002g0146
a0002c0002t0002g0156
a0002c0002t0002g0162
a0002c0002t0002g0163
a0004c0004t0001g0169
a0014c0018t0001g0060
 30 HG00423.hp1
HG00438.hp1
HG00544.hp1
others(27): Show 
HG00423.hp1
HG00438.hp1
HG00544.hp1
HG00597.hp1
HG00733.hp2
HG01081.hp2
HG01346.hp2
HG01496.hp1
HG01934.hp1
HG01981.hp1
HG02004.hp2
HG02080.hp2
HG02148.hp2
HG02165.hp1
HG03834.hp2
HG03927.hp2
HG04204.hp2
NA18941.hp1
NA18942.hp1
NA18956.hp1
NA18969.hp1
NA18969.hp2
NA18975.hp2
NA18980.hp1
NA18981.hp2
NA18988.hp1
NA19064.hp1
NA19074.hp1
NA19077.hp1
NA19081.hp1
 intron_variant MODIFIER c.910+2765C>G
c.910+2765C>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1639325
chrX:1639325
CTCCTGTG
others(156): Show 
CTCCTGTGAGGTCCATCCATCCTGATGGCACATGAGGATGTGGGCACAGC
CTCTGTGTGTGAGATAAGGACTGTGTCCCAGCTCTCCTGTGAGGTCCACC
CATCCTGATGCTTCACGAGGACGTGGGCACAGCCTCTGTGTATGATGGGG
ACAGTGTCCCAGTG
 C
C
 1 a0001c0001t0001g0041
a0001c0001t0001g0041
 1 NA18973.hp1
NA18973.hp1
 intron_variant MODIFIER c.910+2808_910+2970d
others(2): Show 
c.910+2808_910+2970del
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 INFO_REALIGN_3_PRIME chrX 1639325
chrX:1639325
CTCCTGTG
others(898): Show 
CTCCTGTGAGGTCCATCCATCCTGATGGCACATGAGGATGTGGGCACAGC
CTCTGTGTGTGAGATAAGGACTGTGTCCCAGCTCTCCTGTGAGGTCCACC
CATCCTGATGCTTCACGAGGACGTGGGCACAGCCTCTGTGTATGATGGGG
ACAGTGTCCCAGTGTCCTGTGAGGTCCATCCATCCTGATGGCACATGAGG
ATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCT
GTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTG
TGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCC
TGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACA
GTGTCCCAGTGTCCTGTGAGATCCATCCATCCTGATGGCACATGAGGATG
TGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGT
GAGGTCCATCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTG
TGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGA
TGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATG
TCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATGAGGATGTG
GACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAG
ATCCATCCATCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGT
GAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATG
ATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTC
CCAGTG
 C
C
 1 a0002c0002t0002g0216
a0002c0002t0002g0216
 1 homoSapiens_chm13v2.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.910+2783_911-2556d
others(2): Show 
c.910+2783_911-2556del
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 INFO_REALIGN_3_PRIME chrX 1639325
chrX:1639335
G
G
 A
A
 2 a0002c0002t0001g0015
a0002c0002t0001g0073
a0002c0002t0001g0015
a0002c0002t0001g0073
 2 HG02896.hp2
NA19003.hp1
HG02896.hp2
NA19003.hp1
 intron_variant MODIFIER c.910+2775G>A
c.910+2775G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1639335
chrX:1639340
T
T
 C
C
 4 a0001c0001t0001g0214
a0001c0001t0002g0134
a0001c0001t0002g0157
others(1): Show 
a0001c0001t0001g0214
a0001c0001t0002g0134
a0001c0001t0002g0157
a0002c0002t0002g0199
 4 HG00735.hp2
HG01516.hp2
HG02615.hp1
others(1): Show 
HG00735.hp2
HG01516.hp2
HG02615.hp1
HG02622.hp1
 intron_variant MODIFIER c.910+2780T>C
c.910+2780T>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1639340
chrX:1639343
A
A
 C
C
 4 a0001c0001t0001g0025
a0001c0001t0001g0215
a0001c0003t0001g0171
others(1): Show 
a0001c0001t0001g0025
a0001c0001t0001g0215
a0001c0003t0001g0171
a0002c0002t0001g0129
 4 HG01884.hp1
HG03239.hp1
HG03834.hp2
others(1): Show 
HG01884.hp1
HG03239.hp1
HG03834.hp2
NA21309.hp2
 intron_variant MODIFIER c.910+2783A>C
c.910+2783A>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1639343
chrX:1639349
A
A
 G
G
 1 a0001c0001t0002g0134
a0001c0001t0002g0134
 1 HG02615.hp1
HG02615.hp1
 intron_variant MODIFIER c.910+2789A>G
c.910+2789A>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1639349
chrX:1639352
G
G
 C
C
 1 a0001c0001t0002g0157
a0001c0001t0002g0157
 1 HG00735.hp2
HG00735.hp2
 intron_variant MODIFIER c.910+2792G>C
c.910+2792G>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1639352
chrX:1639353
C
C
 T
T
 2 a0001c0001t0002g0134
a0001c0001t0002g0157
a0001c0001t0002g0134
a0001c0001t0002g0157
 2 HG00735.hp2
HG02615.hp1
HG00735.hp2
HG02615.hp1
 intron_variant MODIFIER c.910+2793C>T
c.910+2793C>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1639353
chrX:1639354
A
A
 C
C
 1 a0001c0001t0002g0134
a0001c0001t0002g0134
 1 HG02615.hp1
HG02615.hp1
 intron_variant MODIFIER c.910+2794A>C
c.910+2794A>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1639354
chrX:1639354
A
A
 T
T
 1 a0001c0001t0002g0157
a0001c0001t0002g0157
 1 HG00735.hp2
HG00735.hp2
 intron_variant MODIFIER c.910+2794A>T
c.910+2794A>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1639354
chrX:1639361
G
G
 T
T
 1 a0001c0001t0002g0134
a0001c0001t0002g0134
 1 HG02615.hp1
HG02615.hp1
 intron_variant MODIFIER c.910+2801G>T
c.910+2801G>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1639361
chrX:1639363
T
T
 C
C
 2 a0001c0001t0002g0134
a0001c0001t0002g0157
a0001c0001t0002g0134
a0001c0001t0002g0157
 2 HG00735.hp2
HG02615.hp1
HG00735.hp2
HG02615.hp1
 intron_variant MODIFIER c.910+2803T>C
c.910+2803T>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1639363
chrX:1639364
G
G
 A
A
 1 a0001c0001t0002g0134
a0001c0001t0002g0134
 1 HG02615.hp1
HG02615.hp1
 intron_variant MODIFIER c.910+2804G>A
c.910+2804G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1639364
chrX:1639368
G
G
 A
A
 1 a0001c0001t0002g0134
a0001c0001t0002g0134
 1 HG02615.hp1
HG02615.hp1
 intron_variant MODIFIER c.910+2808G>A
c.910+2808G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1639368
chrX:1639377
CTGTGTGT
others(488): Show 
CTGTGTGTGAGATAAGGACTGTGTCCCAGCTCTCCTGTGAGGTCCACCCA
TCCTGATGCTTCACGAGGACGTGGGCACAGCCTCTGTGTATGATGGGGAC
AGTGTCCCAGTGTCCTGTGAGGTCCATCCATCCTGATGGCACATGAGGAT
GTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGT
GAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTG
TGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTG
ATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGT
GTCCCAGTGTCCTGTGAGATCCATCCATCCTGATGGCACATGAGGATGTG
GGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGA
GGTCCATCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTG
 C
C
 1 a0001c0001t0002g0157
a0001c0001t0002g0157
 1 HG00735.hp2
HG00735.hp2
 intron_variant MODIFIER c.910+2827_911-2922d
others(2): Show 
c.910+2827_911-2922del
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 INFO_REALIGN_3_PRIME chrX 1639377
chrX:1639379
G
G
 C
C
 1 a0001c0001t0002g0134
a0001c0001t0002g0134
 1 HG02615.hp1
HG02615.hp1
 intron_variant MODIFIER c.910+2819G>C
c.910+2819G>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1639379
chrX:1639384
TGA
TGA
 T
T
 2 a0001c0003t0001g0022
a0002c0002t0002g0199
a0001c0003t0001g0022
a0002c0002t0002g0199
 2 HG01516.hp2
NA18906.hp1
HG01516.hp2
NA18906.hp1
 intron_variant MODIFIER c.910+2827_910+2828d
others(4): Show 
c.910+2827_910+2828delGA
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 INFO_REALIGN_3_PRIME chrX 1639384
chrX:1639386
A
A
 T
T
 1 a0001c0001t0002g0134
a0001c0001t0002g0134
 1 HG02615.hp1
HG02615.hp1
 intron_variant MODIFIER c.910+2826A>T
c.910+2826A>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1639386
chrX:1639390
A
A
 G
G
 1 a0001c0003t0001g0022
a0001c0003t0001g0022
 1 NA18906.hp1
NA18906.hp1
 intron_variant MODIFIER c.910+2830A>G
c.910+2830A>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1639390
chrX:1639391
A
A
 G
G
 2 a0001c0003t0001g0022
a0002c0002t0001g0073
a0001c0003t0001g0022
a0002c0002t0001g0073
 2 NA18906.hp1
NA19003.hp1
NA18906.hp1
NA19003.hp1
 intron_variant MODIFIER c.910+2831A>G
c.910+2831A>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1639391
chrX:1639396
T
T
 A
A
 3 a0001c0001t0002g0134
a0001c0003t0001g0022
a0002c0002t0002g0199
a0001c0001t0002g0134
a0001c0003t0001g0022
a0002c0002t0002g0199
 3 HG01516.hp2
HG02615.hp1
NA18906.hp1
HG01516.hp2
HG02615.hp1
NA18906.hp1
 intron_variant MODIFIER c.910+2836T>A
c.910+2836T>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1639396
chrX:1639396
T
T
 C
C
 1 a0002c0002t0001g0073
a0002c0002t0001g0073
 1 NA19003.hp1
NA19003.hp1
 intron_variant MODIFIER c.910+2836T>C
c.910+2836T>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1639396
chrX:1639397
G
G
 A
A
 1 a0002c0002t0001g0073
a0002c0002t0001g0073
 1 NA19003.hp1
NA19003.hp1
 intron_variant MODIFIER c.910+2837G>A
c.910+2837G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1639397
chrX:1639397
GTGTCCCA
others(1391): Show 
GTGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGCTTCACGAGGAC
GTGGGCACAGCCTCTGTGTATGATGGGGACAGTGTCCCAGTGTCCTGTGA
GGTCCATCCATCCTGATGGCACATGAGGATGTGGACACAGCCTCTGTGTG
TGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATG
GTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTC
CCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATGAGGATGTGGA
CACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGAT
CCATCCATCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTGA
GATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGAT
CCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCC
AGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCAC
AGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCC
ACCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGA
TGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCATCCTGATGGCACA
TGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGC
TCTCCTGTGAGGTCCACCCATCCTGATGATCCATGAGGATGTGGACACAG
CCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGGTCCATC
CCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAG
GGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATG
AGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGT
CCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCT
CTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCA
TCCTGATGCTTCATGAGGACGTGGGCACAGCCTCTGTGTATGATGGGGAC
AGTGTCCCAGTGTCCTGTGAGATCCATCCATCCTGATGGCACATGAGGAT
GTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTG
TGAGGTCCATCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGT
GTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTG
ATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCA
 G
G
 1 a0002c0002t0002g0199
a0002c0002t0002g0199
 1 HG01516.hp2
HG01516.hp2
 intron_variant MODIFIER c.910+2875_911-1971d
others(2): Show 
c.910+2875_911-1971del
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 INFO_REALIGN_3_PRIME chrX 1639397
chrX:1639400
TC
TC
 T
T
 1 a0010c0015t0002g0179
a0010c0015t0002g0179
 1 NA19072.hp2
NA19072.hp2
 intron_variant MODIFIER c.910+2843delC
c.910+2843delC
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 INFO_REALIGN_3_PRIME chrX 1639400
chrX:1639401
C
C
 T
T
 1 a0001c0001t0002g0134
a0001c0001t0002g0134
 1 HG02615.hp1
HG02615.hp1
 intron_variant MODIFIER c.910+2841C>T
c.910+2841C>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1639401
chrX:1639416
AG
AG
 A
A
 1 a0010c0015t0002g0179
a0010c0015t0002g0179
 1 NA19072.hp2
NA19072.hp2
 intron_variant MODIFIER c.910+2858delG
c.910+2858delG
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 INFO_REALIGN_3_PRIME chrX 1639416
chrX:1639423
C
C
 T
T
 1 a0001c0001t0001g0076
a0001c0001t0001g0076
 1 HG00735.hp1
HG00735.hp1
 intron_variant MODIFIER c.910+2863C>T
c.910+2863C>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1639423
chrX:1639424
C
C
 G
G
 1 a0002c0002t0001g0087
a0002c0002t0001g0087
 1 HG01168.hp1
HG01168.hp1
 intron_variant MODIFIER c.910+2864C>G
c.910+2864C>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1639424
chrX:1639426
A
A
 C
C
 1 a0001c0001t0001g0076
a0001c0001t0001g0076
 1 HG00735.hp1
HG00735.hp1
 intron_variant MODIFIER c.910+2866A>C
c.910+2866A>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1639426
chrX:1639429
C
C
 T
T
 1 a0001c0001t0002g0134
a0001c0001t0002g0134
 1 HG02615.hp1
HG02615.hp1
 intron_variant MODIFIER c.910+2869C>T
c.910+2869C>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1639429
chrX:1639432
ATGCTTCA
others(2299): Show 
ATGCTTCACGAGGACGTGGGCACAGCCTCTGTGTATGATGGGGACAGTGT
CCCAGTGTCCTGTGAGGTCCATCCATCCTGATGGCACATGAGGATGTGGA
CACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGAT
CCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGA
GATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGAT
CCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCC
AGTGTCCTGTGAGATCCATCCATCCTGATGGCACATGAGGATGTGGGCAC
AGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCC
ATCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGA
TGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCA
TGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGC
TCTCCTGTGAGGTCCACCCATCCTGATGATCCATGAGGATGTGGACACAG
CCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATC
CATCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAG
GGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATG
AGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGT
CCTGTGAGGTCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCT
CTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCA
TCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGG
ACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGG
ATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCC
TGTGAGGTCCACCCATCCTGATGCTTCATGAGGACGTGGGCACAGCCTCT
GTGTATGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCATCCTG
ATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCAT
GTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGATCCATGAGGATGT
GGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGA
GATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTG
TGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGAT
GATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGT
CCCAGTGTCCTGTGAGATCCATCCATCCTGATGGCACATGAGGATGTGGG
CACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGG
TCCACCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTG
TGATGGGGACAGTGTCCCAGTGTCCTGTGAGGTCCATCCCTCCTGATGGT
TCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCC
AGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATGAGGATGTGGACA
CAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCC
ATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGA
TAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCC
ATTAGGATGTGGACACAGCCTCTGTGTGTGTGATAGGGACCATGTCCCAG
TGTCCTGTGAGGTCCACCTATCCTGATGGTCCATGAGGATGTGGACACAG
CCGCTCTGTGTGTGATGGGGACAGTGTCCCAGCTCTCCTGTGAGGTCCAT
CCATCCTGATGGTTCATGGGGACGTGAGCACAGCCTCTGTGTGTGTGTTG
GGGACAGTGTCCCAGTTCTCCTGTGAGGTCCACCCATCCTGATGGTTCAT
GAGGATGTGGGCACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTG
TCCTGTGAGGTCCACCCATCCTGGTGGTCCATGAGTACATGGACACAGCC
TCTCTGTGTGAGATGGGGACAGTGTCCCAGTTCTCCTGTGAGGTCCACCC
ATCCTGG
 A
A
 1 a0002c0002t0002g0112
a0002c0002t0002g0112
 1 NA18941.hp1
NA18941.hp1
 intron_variant MODIFIER c.910+2875_911-1063d
others(2): Show 
c.910+2875_911-1063del
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 INFO_REALIGN_3_PRIME chrX 1639432
chrX:1639435
C
C
 A
A
 1 a0001c0001t0002g0135
a0001c0001t0002g0135
 1 HG02615.hp2
HG02615.hp2
 intron_variant MODIFIER c.910+2875C>A
c.910+2875C>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1639435
chrX:1639435
C
C
 G
G
 1 a0001c0001t0002g0134
a0001c0001t0002g0134
 1 HG02615.hp1
HG02615.hp1
 intron_variant MODIFIER c.910+2875C>G
c.910+2875C>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1639435
chrX:1639437
T
T
 C
C
 1 a0001c0001t0002g0135
a0001c0001t0002g0135
 1 HG02615.hp2
HG02615.hp2
 intron_variant MODIFIER c.910+2877T>C
c.910+2877T>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1639437
chrX:1639440
C
C
 T
T
 85 a0001c0001t0001g0012
a0001c0001t0001g0014
a0001c0001t0001g0028
others(82): Show 
a0001c0001t0001g0012
a0001c0001t0001g0014
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0043
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0065
a0001c0001t0001g0067
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0086
a0001c0001t0001g0097
a0001c0001t0001g0105
a0001c0001t0001g0106
a0001c0001t0001g0114
a0001c0001t0001g0137
a0001c0001t0001g0158
a0001c0001t0001g0174
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0206
a0001c0001t0001g0209
a0001c0001t0001g0214
a0001c0001t0001g0215
a0001c0001t0002g0132
a0001c0001t0002g0134
a0001c0001t0002g0135
a0001c0001t0002g0143
a0001c0001t0002g0145
a0001c0001t0002g0147
a0001c0001t0002g0152
a0001c0001t0002g0170
a0001c0001t0002g0200
a0001c0003t0001g0013
a0001c0003t0001g0022
a0001c0003t0001g0023
a0001c0003t0001g0038
a0001c0003t0001g0050
a0001c0003t0001g0051
a0001c0003t0001g0059
a0001c0003t0001g0091
a0001c0003t0001g0093
a0001c0003t0001g0094
a0001c0003t0001g0107
a0001c0003t0001g0171
a0001c0003t0002g0133
a0001c0003t0002g0149
a0001c0003t0002g0150
a0001c0003t0002g0177
a0002c0002t0001g0003
a0002c0002t0001g0009
a0002c0002t0001g0026
a0002c0002t0001g0052
a0002c0002t0001g0054
a0002c0002t0001g0087
a0002c0002t0001g0089
a0002c0002t0001g0099
a0002c0002t0001g0108
a0002c0002t0001g0122
a0002c0002t0001g0126
a0002c0002t0001g0127
a0002c0002t0001g0130
a0002c0002t0001g0151
a0002c0002t0001g0189
a0002c0002t0001g0210
a0002c0002t0001g0220
a0002c0002t0001g0221
a0002c0002t0001g0222
a0002c0002t0002g0136
a0002c0002t0002g0156
a0002c0002t0002g0159
a0002c0002t0002g0178
a0002c0002t0002g0186
a0002c0002t0002g0188
a0002c0006t0001g0104
a0002c0006t0001g0187
a0003c0009t0001g0011
a0005c0016t0001g0045
a0007c0012t0001g0109
a0009c0014t0002g0075
a0010c0015t0002g0179
a0011c0008t0001g0034
a0014c0018t0001g0060
 85 HG00323.hp2
HG00423.hp1
HG00438.hp2
others(82): Show 
HG00323.hp2
HG00423.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp2
HG00733.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01168.hp1
HG01175.hp1
HG01884.hp1
HG01934.hp1
HG01978.hp2
HG01993.hp2
HG02155.hp1
HG02257.hp1
HG02273.hp2
HG02293.hp2
HG02451.hp2
HG02523.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02683.hp1
HG02683.hp2
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02976.hp1
HG02976.hp2
HG03195.hp2
HG03239.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03540.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18939.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18951.hp1
NA18954.hp1
NA18954.hp2
NA18963.hp1
NA18963.hp2
NA18968.hp1
NA18968.hp2
NA18973.hp2
NA18974.hp1
NA18986.hp2
NA18988.hp1
NA18992.hp1
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA19002.hp2
NA19003.hp2
NA19010.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19062.hp1
NA19064.hp2
NA19065.hp2
NA19072.hp2
NA19077.hp1
NA19077.hp2
NA19080.hp2
NA19081.hp2
NA19085.hp1
NA19091.hp1
NA21309.hp2
 intron_variant MODIFIER c.910+2880C>T
c.910+2880C>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1639440
chrX:1639446
C
C
 T
T
 1 a0002c0002t0002g0178
a0002c0002t0002g0178
 1 HG01978.hp2
HG01978.hp2
 intron_variant MODIFIER c.910+2886C>T
c.910+2886C>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1639446
chrX:1639446
CGTGGGCA
others(1308): Show 
CGTGGGCACAGCCTCTGTGTATGATGGGGACAGTGTCCCAGTGTCCTGTG
AGGTCCATCCATCCTGATGGCACATGAGGATGTGGACACAGCCTCTGTGT
GTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGAT
GGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGT
CCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATGAGGATGTGG
ACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGA
TCCATCCATCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTG
AGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGA
TCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCC
CAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCA
CAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTC
CACCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTG
ATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCATCCTGATGGCAC
ATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAG
CTCTCCTGTGAGGTCCACCCATCCTGATGATCCATGAGGATGTGGACACA
GCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGGTCCAT
CCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATA
GGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCAT
GAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTG
TCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCC
TCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCC
ATCCTGATGCTTCATGAGGACGTGGGCACAGCCTCTGTGTATGATGGGGA
CAGTGTCCCAGTGTCCTGTGAGATCCATCCATCCTGATGGCACATGAGGA
TGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCT
GTGAGGTCCATCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTG
TGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCT
GATGGTTCATGAGGAT
 C
C
 1 a0001c0001t0002g0201
a0001c0001t0002g0201
 1 HG01496.hp1
HG01496.hp1
 intron_variant MODIFIER c.910+2906_911-2023d
others(2): Show 
c.910+2906_911-2023del
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 INFO_REALIGN_3_PRIME chrX 1639446
chrX:1639447
G
G
 T
T
 1 a0001c0001t0002g0134
a0001c0001t0002g0134
 1 HG02615.hp1
HG02615.hp1
 intron_variant MODIFIER c.910+2887G>T
c.910+2887G>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1639447
chrX:1639454
C
C
 T
T
 1 a0001c0001t0002g0134
a0001c0001t0002g0134
 1 HG02615.hp1
HG02615.hp1
 intron_variant MODIFIER c.910+2894C>T
c.910+2894C>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1639454
chrX:1639455
A
A
 G
G
 1 a0001c0001t0002g0134
a0001c0001t0002g0134
 1 HG02615.hp1
HG02615.hp1
 intron_variant MODIFIER c.910+2895A>G
c.910+2895A>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1639455
chrX:1639460
C
C
 CTA
CTA
 1 a0001c0001t0002g0134
a0001c0001t0002g0134
 1 HG02615.hp1
HG02615.hp1
 intron_variant MODIFIER c.910+2901_910+2902i
others(4): Show 
c.910+2901_910+2902insAT
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 INFO_REALIGN_3_PRIME chrX 1639460
chrX:1639466
A
A
 G
G
 2 a0001c0001t0002g0134
a0002c0002t0001g0175
a0001c0001t0002g0134
a0002c0002t0001g0175
 2 HG02615.hp1
NA19240.hp2
HG02615.hp1
NA19240.hp2
 intron_variant MODIFIER c.910+2906A>G
c.910+2906A>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1639466
chrX:1639466
ATGATGGG
others(75): Show 
ATGATGGGGACAGTGTCCCAGTGTCCTGTGAGGTCCATCCATCCTGATGG
CACATGAGGATGTGGACACAGCCTCTGTGTGTG
 A
A
 1 a0001c0001t0002g0135
a0001c0001t0002g0135
 1 HG02615.hp2
HG02615.hp2
 intron_variant MODIFIER c.910+2938_910+3019d
others(84): Show 
c.910+2938_910+3019delGTCCATCCATCCTGATGGCACATGAGGA
TGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTG
TGAG
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 INFO_REALIGN_3_PRIME chrX 1639466
chrX:1639466
ATGATGGG
others(240): Show 
ATGATGGGGACAGTGTCCCAGTGTCCTGTGAGGTCCATCCATCCTGATGG
CACATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCC
CAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCA
CAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTC
CACCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTG
 A
A
 1 a0001c0001t0001g0215
a0001c0001t0001g0215
 1 HG01884.hp1
HG01884.hp1
 intron_variant MODIFIER c.910+2938_911-3059d
others(2): Show 
c.910+2938_911-3059del
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 INFO_REALIGN_3_PRIME chrX 1639466
chrX:1639466
ATGATGGG
others(1393): Show 
ATGATGGGGACAGTGTCCCAGTGTCCTGTGAGGTCCATCCATCCTGATGG
CACATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCC
CAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCA
CAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTC
CACCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTG
ATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCATCCTGATGGCAC
ATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAG
CTCTCCTGTGAGGTCCATCCATCCTGATGATCCATGAGGATGTGGACACA
GCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCAT
CCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATA
GGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCAT
GAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTG
TCCTGTGAGATCCATCCATCCTGATGGCACATGAGGATGTGGGCACAGCC
TCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCC
ATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGG
GACAGTGTCCCAGTGTCCTGTGAGGTCCATCCCTCCTGATGGTTCATGAG
GATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTC
CTGTGAGGTCCACCCATCCTGATGATCCATGAGGATGTGGACACAGCCTC
TGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTC
CTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGAC
CATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGCTTCATGAGGA
CGTGGGCACAGCCTCTGTGTATGATGGGGACAGTGTCCCAGTGTCCTGTG
AGATCCATCCATCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGT
GTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGA
TGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTG
TCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGG
GCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAG
GTCCACCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGT
G
 A
A
 7 a0001c0001t0001g0012
a0001c0001t0001g0014
a0002c0002t0001g0122
others(4): Show 
a0001c0001t0001g0012
a0001c0001t0001g0014
a0002c0002t0001g0122
a0002c0002t0001g0221
a0002c0002t0002g0136
a0002c0002t0002g0159
a0005c0016t0001g0045
 7 HG01070.hp2
HG02257.hp1
HG03486.hp1
others(4): Show 
HG01070.hp2
HG02257.hp1
HG03486.hp1
HG03516.hp1
HG03540.hp2
HG06807.hp1
NA19030.hp1
 intron_variant MODIFIER c.910+2938_911-1906d
others(2): Show 
c.910+2938_911-1906del
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 INFO_REALIGN_3_PRIME chrX 1639466
chrX:1639471
G
G
 A
A
 38 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0058
others(35): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0058
a0001c0001t0001g0061
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0068
a0001c0001t0001g0077
a0001c0001t0001g0081
a0001c0001t0001g0158
a0001c0001t0002g0039
a0001c0001t0002g0120
a0001c0001t0002g0152
a0001c0001t0002g0167
a0001c0001t0002g0176
a0001c0003t0001g0023
a0001c0003t0001g0032
a0001c0003t0001g0033
a0001c0003t0001g0113
a0001c0003t0002g0150
a0001c0003t0002g0177
a0002c0002t0001g0015
a0002c0002t0001g0026
a0002c0002t0001g0042
a0002c0002t0001g0055
a0002c0002t0001g0066
a0002c0002t0001g0125
a0002c0002t0001g0129
a0002c0002t0001g0185
a0002c0002t0002g0131
a0002c0002t0002g0146
a0002c0002t0002g0162
a0002c0002t0002g0163
a0002c0002t0002g0178
a0002c0002t0002g0188
a0002c0010t0001g0010
a0004c0004t0001g0169
a0009c0014t0002g0075
 38 HG00438.hp1
HG00597.hp1
HG00733.hp2
others(35): Show 
HG00438.hp1
HG00597.hp1
HG00733.hp2
HG01081.hp2
HG01175.hp1
HG01346.hp2
HG01934.hp1
HG01978.hp2
HG01981.hp1
HG02004.hp2
HG02080.hp2
HG02148.hp2
HG02165.hp1
HG02273.hp2
HG02622.hp2
HG02683.hp2
HG02896.hp2
HG03195.hp2
HG03239.hp1
HG03669.hp1
HG03704.hp1
HG03831.hp1
HG03834.hp2
HG03927.hp2
HG04204.hp2
NA18942.hp1
NA18942.hp2
NA18956.hp1
NA18969.hp1
NA18969.hp2
NA18975.hp2
NA18980.hp1
NA18981.hp2
NA18992.hp1
NA19010.hp2
NA19064.hp1
NA19074.hp1
NA19081.hp1
 intron_variant MODIFIER c.910+2911G>A
c.910+2911G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1639471
chrX:1639481
TC
TC
 T
T
 1 a0010c0015t0002g0179
a0010c0015t0002g0179
 1 NA19072.hp2
NA19072.hp2
 intron_variant MODIFIER c.910+2924delC
c.910+2924delC
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 INFO_REALIGN_3_PRIME chrX 1639481
chrX:1639486
G
G
 GC
GC
 1 a0002c0002t0001g0175
a0002c0002t0001g0175
 1 NA19240.hp2
NA19240.hp2
 intron_variant MODIFIER c.910+2926_910+2927i
others(3): Show 
c.910+2926_910+2927insC
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1639486
chrX:1639488
G
G
 C
C
 1 a0002c0002t0001g0175
a0002c0002t0001g0175
 1 NA19240.hp2
NA19240.hp2
 intron_variant MODIFIER c.910+2928G>C
c.910+2928G>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1639488
chrX:1639488
GTCCTGTG
others(488): Show 
GTCCTGTGAGGTCCATCCATCCTGATGGCACATGAGGATGTGGACACAGC
CTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCC
CTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGG
GACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATGA
GGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTC
CTGTGAGATCCATCCATCCTGATGGCACATGAGGATGTGGGCACAGCCTC
TGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCAT
CCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGA
CAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGA
TGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTC
 G
G
 1 a0002c0002t0001g0003
a0002c0002t0001g0003
 1 NA19003.hp2
NA19003.hp2
 intron_variant MODIFIER c.910+2943_911-2806d
others(2): Show 
c.910+2943_911-2806del
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 INFO_REALIGN_3_PRIME chrX 1639488
chrX:1639498
G
G
 A
A
 1 a0001c0003t0001g0171
a0001c0003t0001g0171
 1 NA21309.hp2
NA21309.hp2
 intron_variant MODIFIER c.910+2938G>A
c.910+2938G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1639498
chrX:1639498
GTCCATCC
others(570): Show 
GTCCATCCATCCTGATGGCACATGAGGATGTGGACACAGCCTCTGTGTGT
GTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGG
TTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCC
CAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATGAGGATGTGGAC
ACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATC
CATCCATCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTGAG
ATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGATC
CATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCA
GTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACA
GCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCA
CCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGAT
GGGGACAGTGTCCCAGTGTCCTGTGAGA
 G
G
 5 a0001c0001t0001g0065
a0001c0001t0001g0084
a0001c0001t0001g0086
others(2): Show 
a0001c0001t0001g0065
a0001c0001t0001g0084
a0001c0001t0001g0086
a0001c0001t0002g0147
a0001c0003t0001g0032
 5 NA18950.hp1
NA18954.hp1
NA18980.hp1
others(2): Show 
NA18950.hp1
NA18954.hp1
NA18980.hp1
NA19011.hp1
NA19081.hp2
 intron_variant MODIFIER c.910+2971_911-2696d
others(2): Show 
c.910+2971_911-2696del
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 INFO_REALIGN_3_PRIME chrX 1639498
chrX:1639498
GTCCATCC
others(1393): Show 
GTCCATCCATCCTGATGGCACATGAGGATGTGGACACAGCCTCTGTGTGT
GTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGG
TTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCC
CAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATGAGGATGTGGAC
ACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATC
CATCCATCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTGAG
ATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGATC
CATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCA
GTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACA
GCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCA
CCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGAT
GGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCATCCTGATGGCACAT
GAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCT
CTCCTGTGAGGTCCACCCATCCTGATGATCCATGAGGATGTGGACACAGC
CTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGGTCCATCC
CTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGG
GACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATGA
GGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTC
CTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTC
TGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCAT
CCTGATGCTTCATGAGGACGTGGGCACAGCCTCTGTGTATGATGGGGACA
GTGTCCCAGTGTCCTGTGAGATCCATCCATCCTGATGGCACATGAGGATG
TGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGT
GAGGTCCATCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTG
TGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGA
TGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATG
TCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATGAGGATGTG
GACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAG
A
 G
G
 14 a0001c0001t0001g0017
a0001c0001t0001g0019
a0001c0001t0001g0021
others(11): Show 
a0001c0001t0001g0017
a0001c0001t0001g0019
a0001c0001t0001g0021
a0001c0001t0001g0081
a0001c0001t0001g0097
a0001c0001t0001g0203
a0001c0003t0001g0023
a0001c0003t0001g0033
a0001c0003t0001g0050
a0001c0003t0001g0059
a0001c0003t0001g0091
a0002c0002t0001g0002
a0002c0002t0001g0042
a0007c0012t0001g0109
 14 HG00597.hp2
HG00741.hp2
HG01175.hp1
others(11): Show 
HG00597.hp2
HG00741.hp2
HG01175.hp1
HG02451.hp2
HG03195.hp1
HG03453.hp1
HG04184.hp2
NA18942.hp2
NA18963.hp1
NA18968.hp2
NA18969.hp1
NA18992.hp1
NA19064.hp2
NA20300.hp1
 intron_variant MODIFIER c.910+2971_911-1873d
others(2): Show 
c.910+2971_911-1873del
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 INFO_REALIGN_3_PRIME chrX 1639498
chrX:1639498
GTCCATCC
others(1723): Show 
GTCCATCCATCCTGATGGCACATGAGGATGTGGACACAGCCTCTGTGTGT
GTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGG
TTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCC
CAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATGAGGATGTGGAC
ACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATC
CATCCATCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTGAG
ATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGATC
CATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCA
GTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACA
GCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCA
CCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGAT
GGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCATCCTGATGGCACAT
GAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCT
CTCCTGTGAGGTCCACCCATCCTGATGATCCATGAGGATGTGGACACAGC
CTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGGTCCATCC
CTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGG
GACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATGA
GGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTC
CTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTC
TGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCAT
CCTGATGCTTCATGAGGACGTGGGCACAGCCTCTGTGTATGATGGGGACA
GTGTCCCAGTGTCCTGTGAGATCCATCCATCCTGATGGCACATGAGGATG
TGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGT
GAGGTCCATCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTG
TGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGA
TGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATG
TCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATGAGGATGTG
GACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAG
ATCCATCCATCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGT
GAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATG
ATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTC
CCAGTGTCCTGTGAGGTCCATCCCTCCTGATGGTTCATGAGGATGTGGGC
ACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGT
CCACCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGT
GATGGGGACAGTGTCCCAGTGTCCTGTGAGA
 G
G
 1 a0001c0001t0001g0174
a0001c0001t0001g0174
 1 NA18998.hp2
NA18998.hp2
 intron_variant MODIFIER c.910+2946_911-1568d
others(2): Show 
c.910+2946_911-1568del
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 INFO_REALIGN_3_PRIME chrX 1639498
chrX:1639503
T
T
 C
C
 2 a0001c0001t0002g0134
a0002c0002t0001g0130
a0001c0001t0002g0134
a0002c0002t0001g0130
 2 HG02615.hp1
NA18949.hp2
HG02615.hp1
NA18949.hp2
 intron_variant MODIFIER c.910+2943T>C
c.910+2943T>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1639503
chrX:1639506
A
A
 C
C
 29 a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0043
others(26): Show 
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0043
a0001c0001t0001g0067
a0001c0001t0001g0114
a0001c0001t0001g0204
a0001c0001t0001g0209
a0001c0001t0001g0214
a0001c0001t0002g0143
a0001c0001t0002g0170
a0001c0001t0002g0200
a0001c0003t0001g0013
a0001c0003t0001g0038
a0001c0003t0001g0051
a0001c0003t0001g0093
a0001c0003t0001g0094
a0001c0003t0001g0107
a0001c0003t0002g0133
a0001c0003t0002g0149
a0002c0002t0001g0099
a0002c0002t0001g0126
a0002c0002t0001g0151
a0002c0002t0001g0220
a0002c0002t0002g0156
a0002c0006t0001g0104
a0002c0006t0001g0187
a0003c0009t0001g0011
a0006c0011t0001g0139
a0014c0018t0001g0060
 29 HG00323.hp2
HG00423.hp1
HG00438.hp2
others(26): Show 
HG00323.hp2
HG00423.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG01071.hp2
HG01993.hp2
HG02155.hp1
HG02559.hp2
HG02622.hp1
HG02630.hp1
HG02809.hp2
HG02976.hp2
HG03239.hp2
HG03486.hp2
HG03669.hp2
HG04184.hp1
NA18954.hp2
NA18963.hp2
NA18986.hp2
NA18988.hp1
NA18998.hp1
NA18999.hp1
NA19002.hp2
NA19030.hp2
NA19065.hp2
NA19077.hp1
NA19077.hp2
NA19085.hp1
 intron_variant MODIFIER c.910+2946A>C
c.910+2946A>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1639506
chrX:1639515
G
G
 A
A
 1 a0002c0002t0001g0130
a0002c0002t0001g0130
 1 NA18949.hp2
NA18949.hp2
 intron_variant MODIFIER c.910+2955G>A
c.910+2955G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1639515
chrX:1639516
C
C
 T
T
 13 a0001c0001t0001g0046
a0001c0001t0002g0132
a0001c0001t0002g0134
others(10): Show 
a0001c0001t0001g0046
a0001c0001t0002g0132
a0001c0001t0002g0134
a0001c0001t0002g0145
a0001c0003t0001g0022
a0002c0002t0001g0009
a0002c0002t0001g0054
a0002c0002t0001g0108
a0002c0002t0001g0130
a0002c0002t0001g0189
a0002c0002t0001g0210
a0002c0002t0002g0186
a0010c0015t0002g0179
 13 HG02615.hp1
HG02683.hp1
HG02818.hp1
others(10): Show 
HG02615.hp1
HG02683.hp1
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02976.hp1
HG06807.hp2
NA18906.hp1
NA18949.hp2
NA18968.hp1
NA18974.hp1
NA19072.hp2
NA19080.hp2
 intron_variant MODIFIER c.910+2956C>T
c.910+2956C>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1639516
chrX:1639517
A
A
 C
C
 2 a0001c0001t0002g0134
a0002c0002t0001g0130
a0001c0001t0002g0134
a0002c0002t0001g0130
 2 HG02615.hp1
NA18949.hp2
HG02615.hp1
NA18949.hp2
 intron_variant MODIFIER c.910+2957A>C
c.910+2957A>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1639517
chrX:1639517
A
A
 T
T
 11 a0001c0001t0001g0046
a0001c0001t0002g0132
a0001c0001t0002g0145
others(8): Show 
a0001c0001t0001g0046
a0001c0001t0002g0132
a0001c0001t0002g0145
a0001c0003t0001g0022
a0002c0002t0001g0009
a0002c0002t0001g0054
a0002c0002t0001g0108
a0002c0002t0001g0189
a0002c0002t0001g0210
a0002c0002t0002g0186
a0010c0015t0002g0179
 11 HG02683.hp1
HG02818.hp1
HG02886.hp1
others(8): Show 
HG02683.hp1
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02976.hp1
HG06807.hp2
NA18906.hp1
NA18968.hp1
NA18974.hp1
NA19072.hp2
NA19080.hp2
 intron_variant MODIFIER c.910+2957A>T
c.910+2957A>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1639517
chrX:1639517
ACATGAGG
others(405): Show 
ACATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCC
AGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCAC
AGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCC
ACCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGA
TGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCATCCTGATGGCACA
TGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGC
TCTCCTGTGAGGTCCATCCATCCTGATGATCCATGAGGATGTGGACACAG
CCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATC
CCTCCTGATGGTT
 A
A
 5 a0001c0001t0001g0214
a0001c0003t0001g0171
a0001c0003t0002g0133
others(2): Show 
a0001c0001t0001g0214
a0001c0003t0001g0171
a0001c0003t0002g0133
a0002c0006t0001g0187
a0003c0009t0001g0011
 5 HG00544.hp2
HG02622.hp1
HG03486.hp2
others(2): Show 
HG00544.hp2
HG02622.hp1
HG03486.hp2
NA19030.hp2
NA21309.hp2
 intron_variant MODIFIER c.910+2971_911-2861d
others(2): Show 
c.910+2971_911-2861del
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 INFO_REALIGN_3_PRIME chrX 1639517
chrX:1639517
ACATGAGG
others(488): Show 
ACATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCC
AGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCAC
AGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCC
ACCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGA
TGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCATCCTGATGGCACA
TGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGC
TCTCCTGTGAGGTCCATCCATCCTGATGATCCATGAGGATGTGGACACAG
CCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATC
CCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAG
GGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATC
 A
A
 1 a0001c0001t0001g0076
a0001c0001t0001g0076
 1 HG00735.hp1
HG00735.hp1
 intron_variant MODIFIER c.910+3028_911-2721d
others(2): Show 
c.910+3028_911-2721del
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 INFO_REALIGN_3_PRIME chrX 1639517
chrX:1639517
ACATGAGG
others(735): Show 
ACATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCC
AGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCAC
AGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCC
ACCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGA
TGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCATCCTGATGGCACA
TGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGC
TCTCCTGTGAGGTCCATCCATCCTGATGATCCATGAGGATGTGGACACAG
CCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATC
CCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAG
GGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATG
AGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGT
CCTGTGAGATCCATCCATCCTGATGGCACATGAGGATGTGGGCACAGCCT
CTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCA
TCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGG
ACAGTGTCCCAGTGTCCTGTGAGGTCCATCCCTCCTGATGGTT
 A
A
 2 a0001c0001t0002g0039
a0001c0003t0001g0107
a0001c0001t0002g0039
a0001c0003t0001g0107
 2 HG02155.hp1
HG02165.hp1
HG02155.hp1
HG02165.hp1
 intron_variant MODIFIER c.910+2971_911-2531d
others(2): Show 
c.910+2971_911-2531del
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 INFO_REALIGN_3_PRIME chrX 1639517
chrX:1639517
ACATGAGG
others(818): Show 
ACATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCC
AGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCAC
AGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCC
ACCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGA
TGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCATCCTGATGGCACA
TGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGC
TCTCCTGTGAGGTCCATCCATCCTGATGATCCATGAGGATGTGGACACAG
CCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATC
CCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAG
GGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATG
AGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGT
CCTGTGAGATCCATCCATCCTGATGGCACATGAGGATGTGGGCACAGCCT
CTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCA
TCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGG
ACAGTGTCCCAGTGTCCTGTGAGGTCCATCCCTCCTGATGGTTCATGAGG
ATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCC
TGTGAGGTCCACCCATCCTGATGATC
 A
A
 1 a0002c0002t0001g0073
a0002c0002t0001g0073
 1 NA19003.hp1
NA19003.hp1
 intron_variant MODIFIER c.910+3120_911-2299d
others(2): Show 
c.910+3120_911-2299del
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 INFO_REALIGN_3_PRIME chrX 1639517
chrX:1639517
ACATGAGG
others(900): Show 
ACATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCC
AGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCAC
AGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCC
ACCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGA
TGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCATCCTGATGGCACA
TGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGC
TCTCCTGTGAGGTCCATCCATCCTGATGATCCATGAGGATGTGGACACAG
CCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATC
CCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAG
GGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATG
AGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGT
CCTGTGAGATCCATCCATCCTGATGGCACATGAGGATGTGGGCACAGCCT
CTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCA
TCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGG
ACAGTGTCCCAGTGTCCTGTGAGGTCCATCCCTCCTGATGGTTCATGAGG
ATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCC
TGTGAGGTCCACCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCT
GTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCC
TGATGGTT
 A
A
 6 a0001c0001t0001g0024
a0001c0001t0001g0158
a0001c0003t0002g0150
others(3): Show 
a0001c0001t0001g0024
a0001c0001t0001g0158
a0001c0003t0002g0150
a0001c0003t0002g0177
a0002c0002t0001g0026
a0002c0002t0002g0178
 6 HG01934.hp1
HG01978.hp2
HG02273.hp2
others(3): Show 
HG01934.hp1
HG01978.hp2
HG02273.hp2
HG03195.hp2
HG03831.hp1
NA19010.hp2
 intron_variant MODIFIER c.910+2971_911-2366d
others(2): Show 
c.910+2971_911-2366del
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 INFO_REALIGN_3_PRIME chrX 1639517
chrX:1639517
ACATGAGG
others(1228): Show 
ACATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCC
AGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCAC
AGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCC
ACCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGA
TGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCATCCTGATGGCACA
TGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGC
TCTCCTGTGAGGTCCATCCATCCTGATGATCCATGAGGATGTGGACACAG
CCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATC
CCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAG
GGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATG
AGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGT
CCTGTGAGATCCATCCATCCTGATGGCACATGAGGATGTGGGCACAGCCT
CTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCA
TCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGG
ACAGTGTCCCAGTGTCCTGTGAGGTCCATCCCTCCTGATGGTTCATGAGG
ATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCC
TGTGAGGTCCACCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCT
GTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCC
TGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACC
ATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGCTTCATGAGGAC
GTGGGCACAGCCTCTGTGTATGATGGGGACAGTGTCCCAGTGTCCTGTGA
GATCCATCCATCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGTG
TGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGAT
GATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGT
CCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTT
 A
A
 3 a0001c0001t0002g0200
a0002c0002t0001g0020
a0002c0002t0002g0188
a0001c0001t0002g0200
a0002c0002t0001g0020
a0002c0002t0002g0188
 3 HG01993.hp2
HG02280.hp1
HG03669.hp1
HG01993.hp2
HG02280.hp1
HG03669.hp1
 intron_variant MODIFIER c.910+2971_911-2038d
others(2): Show 
c.910+2971_911-2038del
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 INFO_REALIGN_3_PRIME chrX 1639517
chrX:1639517
ACATGAGG
others(1558): Show 
ACATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCC
AGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCAC
AGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCC
ACCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGA
TGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCATCCTGATGGCACA
TGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGC
TCTCCTGTGAGGTCCATCCATCCTGATGATCCATGAGGATGTGGACACAG
CCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATC
CCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAG
GGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATG
AGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGT
CCTGTGAGATCCATCCATCCTGATGGCACATGAGGATGTGGGCACAGCCT
CTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCA
TCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGG
ACAGTGTCCCAGTGTCCTGTGAGGTCCATCCCTCCTGATGGTTCATGAGG
ATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCC
TGTGAGGTCCACCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCT
GTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCC
TGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACC
ATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGCTTCATGAGGAC
GTGGGCACAGCCTCTGTGTATGATGGGGACAGTGTCCCAGTGTCCTGTGA
GATCCATCCATCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGTG
TGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGAT
GATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGT
CCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGG
CACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGG
TCCACCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTG
TGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCATCCTGATGGC
ACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCC
AGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATGAGGATGTGGACA
CAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGGTCC
ATCCCTCCTGATGGTT
 A
A
 27 a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0043
others(24): Show 
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0043
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0105
a0001c0001t0001g0106
a0001c0001t0001g0114
a0001c0001t0001g0137
a0001c0001t0001g0204
a0001c0001t0001g0206
a0001c0001t0001g0209
a0001c0001t0002g0152
a0001c0001t0002g0170
a0001c0003t0001g0013
a0001c0003t0001g0038
a0001c0003t0001g0051
a0001c0003t0001g0093
a0001c0003t0001g0094
a0001c0003t0002g0149
a0002c0002t0001g0087
a0002c0002t0001g0099
a0002c0002t0001g0126
a0002c0002t0001g0220
a0002c0006t0001g0104
a0009c0014t0002g0075
a0014c0018t0001g0060
 27 HG00438.hp2
HG00544.hp1
HG01070.hp1
others(24): Show 
HG00438.hp2
HG00544.hp1
HG01070.hp1
HG01071.hp1
HG01168.hp1
HG02630.hp1
HG02683.hp2
HG02809.hp2
HG02976.hp2
HG03239.hp2
HG03669.hp2
HG03704.hp1
HG04184.hp1
NA18949.hp1
NA18951.hp1
NA18963.hp2
NA18973.hp2
NA18986.hp2
NA18988.hp1
NA18998.hp1
NA18999.hp1
NA19002.hp2
NA19065.hp2
NA19077.hp1
NA19077.hp2
NA19085.hp1
NA19091.hp1
 intron_variant MODIFIER c.910+2971_911-1708d
others(2): Show 
c.910+2971_911-1708del
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 INFO_REALIGN_3_PRIME chrX 1639517
chrX:1639517
ACATGAGG
others(1723): Show 
ACATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCC
AGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCAC
AGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCC
ACCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGA
TGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCATCCTGATGGCACA
TGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGC
TCTCCTGTGAGGTCCATCCATCCTGATGATCCATGAGGATGTGGACACAG
CCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATC
CCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAG
GGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATG
AGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGT
CCTGTGAGATCCATCCATCCTGATGGCACATGAGGATGTGGGCACAGCCT
CTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCA
TCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGG
ACAGTGTCCCAGTGTCCTGTGAGGTCCATCCCTCCTGATGGTTCATGAGG
ATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCC
TGTGAGGTCCACCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCT
GTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCC
TGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACC
ATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGCTTCATGAGGAC
GTGGGCACAGCCTCTGTGTATGATGGGGACAGTGTCCCAGTGTCCTGTGA
GATCCATCCATCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGTG
TGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGAT
GATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGT
CCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGG
CACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGG
TCCACCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTG
TGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCATCCTGATGGC
ACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCC
AGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATGAGGATGTGGACA
CAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGGTCC
ATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGA
TAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCC
ATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAG
TGTCCTGTGAGATCCATCCCTCCTGATGGTT
 A
A
 27 a0001c0001t0001g0025
a0001c0001t0001g0058
a0001c0001t0001g0061
others(24): Show 
a0001c0001t0001g0025
a0001c0001t0001g0058
a0001c0001t0001g0061
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0068
a0001c0001t0001g0077
a0001c0001t0002g0120
a0001c0001t0002g0167
a0001c0001t0002g0176
a0001c0003t0001g0113
a0002c0002t0001g0052
a0002c0002t0001g0055
a0002c0002t0001g0066
a0002c0002t0001g0089
a0002c0002t0001g0125
a0002c0002t0001g0127
a0002c0002t0001g0185
a0002c0002t0001g0222
a0002c0002t0002g0131
a0002c0002t0002g0146
a0002c0002t0002g0156
a0002c0002t0002g0162
a0002c0002t0002g0163
a0002c0010t0001g0010
a0004c0004t0001g0169
a0011c0008t0001g0034
 27 HG00423.hp1
HG00438.hp1
HG00597.hp1
others(24): Show 
HG00423.hp1
HG00438.hp1
HG00597.hp1
HG00733.hp1
HG00733.hp2
HG01081.hp2
HG01346.hp2
HG01981.hp1
HG02004.hp2
HG02080.hp2
HG02148.hp2
HG02293.hp2
HG02523.hp2
HG02622.hp2
HG03834.hp2
HG03927.hp2
HG04204.hp2
NA18939.hp2
NA18942.hp1
NA18956.hp1
NA18969.hp2
NA18975.hp2
NA18981.hp2
NA19062.hp1
NA19064.hp1
NA19074.hp1
NA19081.hp1
 intron_variant MODIFIER c.910+2971_911-1543d
others(2): Show 
c.910+2971_911-1543del
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 INFO_REALIGN_3_PRIME chrX 1639517
chrX:1639521
GAGGATGT
others(1806): Show 
GAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTG
TCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCC
TCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCC
ATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGG
GACAGTGTCCCAGTGTCCTGTGAGATCCATCCATCCTGATGGCACATGAG
GATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTC
CTGTGAGGTCCATCCATCCTGATGATCCATGAGGATGTGGACACAGCCTC
TGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTC
CTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGAC
CATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATGAGGA
TGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTG
TGAGATCCATCCATCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGT
GTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCT
GATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAG
TGTCCCAGTGTCCTGTGAGGTCCATCCCTCCTGATGGTTCATGAGGATGT
GGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTG
AGGTCCACCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGT
GTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGAT
GGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGT
CCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGCTTCATGAGGACGTGG
GCACAGCCTCTGTGTATGATGGGGACAGTGTCCCAGTGTCCTGTGAGATC
CATCCATCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTGAG
ATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGATC
CATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCA
GTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACA
GCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCA
CCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGAT
GGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCATCCTGATGGCACAT
GAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCT
CTCCTGTGAGGTCCACCCATCCTGATGATCCATGAGGATGTGGACACAGC
CTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGGTCCATCC
CTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGG
GACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATGA
GGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTC
CTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTC
TGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCAT
CCTGATGATCCATT
 G
G
 1 a0006c0011t0001g0139
a0006c0011t0001g0139
 1 HG02559.hp2
HG02559.hp2
 intron_variant MODIFIER c.910+2993_911-1438d
others(2): Show 
c.910+2993_911-1438del
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 INFO_REALIGN_3_PRIME chrX 1639521
chrX:1639526
T
T
 C
C
 1 a0002c0002t0001g0015
a0002c0002t0001g0015
 1 HG02896.hp2
HG02896.hp2
 intron_variant MODIFIER c.910+2966T>C
c.910+2966T>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1639526
chrX:1639531
A
A
 G
G
 16 a0001c0001t0001g0046
a0001c0001t0001g0067
a0001c0001t0002g0132
others(13): Show 
a0001c0001t0001g0046
a0001c0001t0001g0067
a0001c0001t0002g0132
a0001c0001t0002g0134
a0001c0001t0002g0143
a0001c0001t0002g0145
a0001c0003t0001g0022
a0002c0002t0001g0009
a0002c0002t0001g0015
a0002c0002t0001g0054
a0002c0002t0001g0108
a0002c0002t0001g0151
a0002c0002t0001g0189
a0002c0002t0001g0210
a0002c0002t0002g0186
a0010c0015t0002g0179
 16 HG00323.hp2
HG01071.hp2
HG02615.hp1
others(13): Show 
HG00323.hp2
HG01071.hp2
HG02615.hp1
HG02683.hp1
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02896.hp2
HG02976.hp1
HG06807.hp2
NA18906.hp1
NA18954.hp2
NA18968.hp1
NA18974.hp1
NA19072.hp2
NA19080.hp2
 intron_variant MODIFIER c.910+2971A>G
c.910+2971A>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1639531
chrX:1639536
G
G
 A
A
 1 a0001c0001t0002g0134
a0001c0001t0002g0134
 1 HG02615.hp1
HG02615.hp1
 intron_variant MODIFIER c.910+2976G>A
c.910+2976G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1639536
chrX:1639540
CTGTGTGT
others(490): Show 
CTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCT
CCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGA
CCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATGAGG
ATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCT
GTGAGATCCATCCATCCTGATGGCACATGAGGATGTGGGCACAGCCTCTG
TGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCC
TGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACA
GTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATG
TGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGT
GAGGTCCACCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTG
 C
C
 1 a0002c0002t0001g0015
a0002c0002t0001g0015
 1 HG02896.hp2
HG02896.hp2
 intron_variant MODIFIER c.910+2989_911-2758d
others(2): Show 
c.910+2989_911-2758del
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 INFO_REALIGN_3_PRIME chrX 1639540
chrX:1639542
G
G
 T
T
 1 a0001c0001t0002g0134
a0001c0001t0002g0134
 1 HG02615.hp1
HG02615.hp1
 intron_variant MODIFIER c.910+2982G>T
c.910+2982G>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1639542
chrX:1639553
GGGGACAG
others(1393): Show 
GGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCAT
GAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCT
CTCCTGTGAGGTCCACCCATCCTGATGATCCATGAGGATGTGGACACAGC
CTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCC
ATCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGG
GACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGATCCATGA
GGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTC
CTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTC
TGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCAT
CCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGA
CAGTGTCCCAGTGTCCTGTGAGATCCATCCATCCTGATGGCACATGAGGA
TGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCT
GTGAGGTCCACCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTG
TGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGGTCCATCCCTCCT
GATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCA
TGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATGAGGATG
TGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTG
AGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGT
GTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGA
TGCTTCATGAGGACGTGGGCACAGCCTCTGTGTATGATGGGGACAGTGTC
CCAGTGTCCTGTGAGATCCATCCATCCTGATGGCACATGAGGATGTGGGC
ACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGT
CCATCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGT
GATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTT
CATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCA
GCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATGAGGATGTGGACAC
AGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCA
TCCATCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGAT
A
 G
G
 1 a0002c0002t0001g0151
a0002c0002t0001g0151
 1 NA18954.hp2
NA18954.hp2
 intron_variant MODIFIER c.910+2999_911-1845d
others(2): Show 
c.910+2999_911-1845del
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 INFO_REALIGN_3_PRIME chrX 1639553
chrX:1639560
GTGTCCCA
others(1806): Show 
GTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATG
TGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGT
GAGGTCCACCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTG
TGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCATCCTGA
TGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATG
TCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGATCCATGAGGATGTG
GACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAG
ATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGT
GAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATG
ATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTC
CCAGTGTCCTGTGAGATCCATCCATCCTGATGGCACATGAGGATGTGGGC
ACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGT
CCACCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGT
GATGGGGACAGTGTCCCAGTGTCCTGTGAGGTCCATCCCTCCTGATGGTT
CATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCA
GCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATGAGGATGTGGACAC
AGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCA
TCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGAT
AGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGCTTCA
TGAGGACGTGGGCACAGCCTCTGTGTATGATGGGGACAGTGTCCCAGTGT
CCTGTGAGATCCATCCATCCTGATGGCACATGAGGATGTGGGCACAGCCT
CTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCA
TCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGG
ACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGG
ATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCC
TGTGAGGTCCACCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCT
GTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCATCC
TGATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACC
ATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATGAGGAT
GTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGT
GAGGTCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTG
TGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTG
ATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGT
GTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTG
GGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGA
GGTCCACCCATCCTGATGATCCATTAGGATGTGGACACAGCCTCTGTGTG
TGTGATAGGGACCA
 G
G
 1 a0002c0002t0001g0129
a0002c0002t0001g0129
 1 HG03239.hp1
HG03239.hp1
 intron_variant MODIFIER c.910+3020_911-1411d
others(2): Show 
c.910+3020_911-1411del
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 INFO_REALIGN_3_PRIME chrX 1639560
chrX:1639571
TCCTGTGA
others(902): Show 
TCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCC
TCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCC
ATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGG
GACAGTGTCCCAGTGTCCTGTGAGATCCATCCATCCTGATGGCACATGAG
GATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTC
CTGTGAGGTCCATCCATCCTGATGATCCATGAGGATGTGGACACAGCCTC
TGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTC
CTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGAC
CATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATGAGGA
TGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTG
TGAGATCCATCCATCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGT
GTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCT
GATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAG
TGTCCCAGTGTCCTGTGAGGTCCATCCCTCCTGATGGTTCATGAGGATGT
GGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTG
AGGTCCACCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGT
GTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGAT
GGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGT
CCCAGCTCTC
 T
T
 1 a0001c0001t0002g0134
a0001c0001t0002g0134
 1 HG02615.hp1
HG02615.hp1
 intron_variant MODIFIER c.910+3013_911-2322d
others(2): Show 
c.910+3013_911-2322del
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 INFO_REALIGN_3_PRIME chrX 1639571
chrX:1639580
A
A
 G
G
 16 a0001c0001t0001g0046
a0001c0001t0001g0067
a0001c0001t0001g0083
others(13): Show 
a0001c0001t0001g0046
a0001c0001t0001g0067
a0001c0001t0001g0083
a0001c0001t0002g0132
a0001c0001t0002g0143
a0001c0001t0002g0145
a0001c0003t0001g0022
a0002c0002t0001g0009
a0002c0002t0001g0054
a0002c0002t0001g0108
a0002c0002t0001g0130
a0002c0002t0001g0175
a0002c0002t0001g0189
a0002c0002t0001g0210
a0002c0002t0002g0186
a0010c0015t0002g0179
 16 HG00323.hp2
HG01071.hp2
HG02257.hp2
others(13): Show 
HG00323.hp2
HG01071.hp2
HG02257.hp2
HG02683.hp1
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02976.hp1
HG06807.hp2
NA18906.hp1
NA18949.hp2
NA18968.hp1
NA18974.hp1
NA19072.hp2
NA19080.hp2
NA19240.hp2
 intron_variant MODIFIER c.910+3020A>G
c.910+3020A>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1639580
chrX:1639588
C
C
 A
A
 6 a0001c0001t0001g0056
a0001c0001t0001g0067
a0001c0001t0002g0143
others(3): Show 
a0001c0001t0001g0056
a0001c0001t0001g0067
a0001c0001t0002g0143
a0002c0002t0001g0054
a0002c0002t0002g0186
a0010c0015t0002g0179
 6 HG00323.hp1
HG00323.hp2
HG01071.hp2
others(3): Show 
HG00323.hp1
HG00323.hp2
HG01071.hp2
NA18968.hp1
NA18974.hp1
NA19072.hp2
 intron_variant MODIFIER c.910+3028C>A
c.910+3028C>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1639588
chrX:1639597
GTT
GTT
 G
G
 1 a0001c0001t0001g0056
a0001c0001t0001g0056
 1 HG00323.hp1
HG00323.hp1
 intron_variant MODIFIER c.910+3038_910+3039d
others(4): Show 
c.910+3038_910+3039delTT
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1639597
chrX:1639598
T
T
 C
C
 6 a0001c0001t0001g0067
a0001c0001t0001g0083
a0001c0001t0002g0143
others(3): Show 
a0001c0001t0001g0067
a0001c0001t0001g0083
a0001c0001t0002g0143
a0002c0002t0001g0054
a0002c0002t0002g0186
a0010c0015t0002g0179
 6 HG00323.hp2
HG01071.hp2
HG02257.hp2
others(3): Show 
HG00323.hp2
HG01071.hp2
HG02257.hp2
NA18968.hp1
NA18974.hp1
NA19072.hp2
 intron_variant MODIFIER c.910+3038T>C
c.910+3038T>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1639598
chrX:1639599
T
T
 A
A
 6 a0001c0001t0001g0067
a0001c0001t0001g0083
a0001c0001t0002g0143
others(3): Show 
a0001c0001t0001g0067
a0001c0001t0001g0083
a0001c0001t0002g0143
a0002c0002t0001g0054
a0002c0002t0002g0186
a0010c0015t0002g0179
 6 HG00323.hp2
HG01071.hp2
HG02257.hp2
others(3): Show 
HG00323.hp2
HG01071.hp2
HG02257.hp2
NA18968.hp1
NA18974.hp1
NA19072.hp2
 intron_variant MODIFIER c.910+3039T>A
c.910+3039T>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1639599
chrX:1639599
TCATGAGG
others(158): Show 
TCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCC
AGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATGAGGATGTGGACA
CAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCC
ATCCATCCTGATGGCA
 T
T
 1 a0002c0002t0002g0181
a0002c0002t0002g0181
 1 HG00099.hp2
HG00099.hp2
 intron_variant MODIFIER c.910+3108_911-2971d
others(2): Show 
c.910+3108_911-2971del
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 INFO_REALIGN_3_PRIME chrX 1639599
chrX:1639601
ATGAGGAT
others(899): Show 
ATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAG
CTCTCCTGTGAGGTCCACCCATCCTGATGATCCATGAGGATGTGGACACA
GCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCAT
CCATCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATA
GGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGATCCAT
GAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTG
TCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCC
TCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCC
ATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGG
GACAGTGTCCCAGTGTCCTGTGAGATCCATCCATCCTGATGGCACATGAG
GATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTC
CTGTGAGGTCCACCCATCCTGATGATCCATGAGGATGTGGACACAGCCTC
TGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGGTCCATCCCTC
CTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGAC
CATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATGAGGA
TGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTG
TGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGT
GTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCT
GATGCTT
 A
A
 1 a0001c0001t0001g0056
a0001c0001t0001g0056
 1 HG00323.hp1
HG00323.hp1
 intron_variant MODIFIER c.910+3042_911-2296d
others(2): Show 
c.910+3042_911-2296del
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1639601
chrX:1639631
AGATAGGG
others(1724): Show 
AGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGA
TCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCC
CAGTGTCCTGTGAGATCCATCCATCCTGATGGCACATGAGGATGTGGGCA
CAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTC
CATCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTG
ATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTC
ATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAG
CTCTCCTGTGAGGTCCACCCATCCTGATGATCCATGAGGATGTGGACACA
GCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCAT
CCATCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATA
GGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCAT
GAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTG
TCCTGTGAGGTCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCC
TCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCC
ATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGG
GACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAG
GATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTC
CTGTGAGGTCCACCCATCCTGATGCTTCATGAGGACGTGGGCACAGCCTC
TGTGTATGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCATCCT
GATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCA
TGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGATCCATGAGGATG
TGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTG
AGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGT
GTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGA
TGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTG
TCCCAGTGTCCTGTGAGATCCATCCATCCTGATGGCACATGAGGATGTGG
GCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAG
GTCCACCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGT
GTGATGGGGACAGTGTCCCAGTGTCCTGTGAGGTCCATCCCTCCTGATGG
TTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCC
CAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATGAGGATGTGGAC
ACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATC
CATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAG
ATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATC
CATTAGGATGTGGACACAGCCTCTGTGTGTGT
 A
A
 1 a0002c0002t0001g0175
a0002c0002t0001g0175
 1 NA19240.hp2
NA19240.hp2
 intron_variant MODIFIER c.910+3091_911-1422d
others(2): Show 
c.910+3091_911-1422del
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 INFO_REALIGN_3_PRIME chrX 1639631
chrX:1639631
AGATAGGG
others(1972): Show 
AGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGA
TCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCC
CAGTGTCCTGTGAGATCCATCCATCCTGATGGCACATGAGGATGTGGGCA
CAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTC
CATCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTG
ATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTC
ATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAG
CTCTCCTGTGAGGTCCACCCATCCTGATGATCCATGAGGATGTGGACACA
GCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCAT
CCATCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATA
GGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCAT
GAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTG
TCCTGTGAGGTCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCC
TCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCC
ATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGG
GACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAG
GATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTC
CTGTGAGGTCCACCCATCCTGATGCTTCATGAGGACGTGGGCACAGCCTC
TGTGTATGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCATCCT
GATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCA
TGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGATCCATGAGGATG
TGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTG
AGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGT
GTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGA
TGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTG
TCCCAGTGTCCTGTGAGATCCATCCATCCTGATGGCACATGAGGATGTGG
GCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAG
GTCCACCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGT
GTGATGGGGACAGTGTCCCAGTGTCCTGTGAGGTCCATCCCTCCTGATGG
TTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCC
CAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATGAGGATGTGGAC
ACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATC
CATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAG
ATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATC
CATTAGGATGTGGACACAGCCTCTGTGTGTGTGATAGGGACCATGTCCCA
GTGTCCTGTGAGGTCCACCTATCCTGATGGTCCATGAGGATGTGGACACA
GCCGCTCTGTGTGTGATGGGGACAGTGTCCCAGCTCTCCTGTGAGGTCCA
TCCATCCTGATGGTTCATGGGGACGTGAGCACAGCCTCTGTGTGTGTGTT
GGGGACAGTGTCCCAGTTCTCCTGTGAGGTCCACCCATCCTGATGGTTCA
TGAGGATGTGGGCACAGCCTCTGTGTGTGT
 A
A
 1 a0001c0001t0002g0132
a0001c0001t0002g0132
 1 HG02683.hp1
HG02683.hp1
 intron_variant MODIFIER c.910+3075_911-1190d
others(2): Show 
c.910+3075_911-1190del
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 INFO_REALIGN_3_PRIME chrX 1639631
chrX:1639680
A
A
 C
C
 2 a0001c0001t0001g0041
a0001c0001t0002g0135
a0001c0001t0001g0041
a0001c0001t0002g0135
 2 HG02615.hp2
NA18973.hp1
HG02615.hp2
NA18973.hp1
 intron_variant MODIFIER c.910+3120A>C
c.910+3120A>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1639680
chrX:1639682
C
C
 T
T
 3 a0001c0001t0001g0041
a0001c0001t0001g0083
a0001c0001t0002g0135
a0001c0001t0001g0041
a0001c0001t0001g0083
a0001c0001t0002g0135
 3 HG02257.hp2
HG02615.hp2
NA18973.hp1
HG02257.hp2
HG02615.hp2
NA18973.hp1
 intron_variant MODIFIER c.911-3121C>T
c.911-3121C>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1639682
chrX:1639685
T
T
 C
C
 1 a0001c0001t0002g0135
a0001c0001t0002g0135
 1 HG02615.hp2
HG02615.hp2
 intron_variant MODIFIER c.911-3118T>C
c.911-3118T>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1639685
chrX:1639686
G
G
 T
T
 9 a0001c0001t0001g0046
a0001c0001t0001g0067
a0001c0001t0002g0143
others(6): Show 
a0001c0001t0001g0046
a0001c0001t0001g0067
a0001c0001t0002g0143
a0001c0001t0002g0145
a0001c0003t0001g0022
a0002c0002t0001g0009
a0002c0002t0001g0108
a0002c0002t0001g0189
a0002c0002t0001g0210
 9 HG00323.hp2
HG01071.hp2
HG02818.hp1
others(6): Show 
HG00323.hp2
HG01071.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02976.hp1
HG06807.hp2
NA18906.hp1
NA19080.hp2
 intron_variant MODIFIER c.911-3117G>T
c.911-3117G>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1639686
chrX:1639687
A
A
 G
G
 7 a0001c0001t0001g0046
a0001c0001t0002g0145
a0001c0003t0001g0022
others(4): Show 
a0001c0001t0001g0046
a0001c0001t0002g0145
a0001c0003t0001g0022
a0002c0002t0001g0009
a0002c0002t0001g0108
a0002c0002t0001g0189
a0002c0002t0001g0210
 7 HG02818.hp1
HG02886.hp1
HG02886.hp2
others(4): Show 
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02976.hp1
HG06807.hp2
NA18906.hp1
NA19080.hp2
 intron_variant MODIFIER c.911-3116A>G
c.911-3116A>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1639687
chrX:1639691
T
T
 C
C
 2 a0001c0001t0001g0041
a0001c0001t0002g0135
a0001c0001t0001g0041
a0001c0001t0002g0135
 2 HG02615.hp2
NA18973.hp1
HG02615.hp2
NA18973.hp1
 intron_variant MODIFIER c.911-3112T>C
c.911-3112T>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1639691
chrX:1639696
A
A
 G
G
 2 a0001c0001t0001g0041
a0001c0001t0002g0135
a0001c0001t0001g0041
a0001c0001t0002g0135
 2 HG02615.hp2
NA18973.hp1
HG02615.hp2
NA18973.hp1
 intron_variant MODIFIER c.911-3107A>G
c.911-3107A>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1639696
chrX:1639705
CTG
CTG
 C
C
 2 a0001c0001t0001g0041
a0001c0001t0002g0135
a0001c0001t0001g0041
a0001c0001t0002g0135
 2 HG02615.hp2
NA18973.hp1
HG02615.hp2
NA18973.hp1
 intron_variant MODIFIER c.911-3089_911-3088d
others(4): Show 
c.911-3089_911-3088delTG
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 INFO_REALIGN_3_PRIME chrX 1639705
chrX:1639713
G
G
 A
A
 2 a0001c0001t0001g0041
a0001c0001t0002g0135
a0001c0001t0001g0041
a0001c0001t0002g0135
 2 HG02615.hp2
NA18973.hp1
HG02615.hp2
NA18973.hp1
 intron_variant MODIFIER c.911-3090G>A
c.911-3090G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1639713
chrX:1639725
GTGTCCCA
others(1641): Show 
GTGTCCCAGTGTCCTGTGAGATCCATCCATCCTGATGGCACATGAGGATG
TGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGT
GAGGTCCATCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTG
TGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGA
TGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATG
TCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATGAGGATGTG
GACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAG
ATCCATCCATCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGT
GAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATG
ATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTC
CCAGTGTCCTGTGAGGTCCATCCCTCCTGATGGTTCATGAGGATGTGGGC
ACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGT
CCACCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGT
GATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTT
CATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCA
GCTCTCCTGTGAGGTCCACCCATCCTGATGCTTCATGAGGACGTGGGCAC
AGCCTCTGTGTATGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATC
CATCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAG
GGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGATCCATG
AGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGT
CCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCT
CTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCA
TCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGG
ACAGTGTCCCAGTGTCCTGTGAGATCCATCCATCCTGATGGCACATGAGG
ATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCC
TGTGAGGTCCACCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCT
GTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGGTCCATCCCTCC
TGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACC
ATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATGAGGAT
GTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGT
GAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTG
TGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTG
ATGATCCATTAGGATGTGGACACAGCCTCTGTGTGTGTGATAGGGACCA
 G
G
 13 a0001c0001t0001g0046
a0001c0001t0001g0067
a0001c0001t0002g0140
others(10): Show 
a0001c0001t0001g0046
a0001c0001t0001g0067
a0001c0001t0002g0140
a0001c0001t0002g0143
a0001c0001t0002g0145
a0001c0003t0001g0022
a0002c0002t0001g0009
a0002c0002t0001g0054
a0002c0002t0001g0108
a0002c0002t0001g0189
a0002c0002t0001g0210
a0002c0002t0002g0186
a0010c0015t0002g0179
 13 HG00323.hp2
HG01071.hp2
HG01993.hp1
others(10): Show 
HG00323.hp2
HG01071.hp2
HG01993.hp1
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02976.hp1
HG06807.hp2
NA18906.hp1
NA18968.hp1
NA18974.hp1
NA19072.hp2
NA19080.hp2
 intron_variant MODIFIER c.911-3058_911-1411d
others(2): Show 
c.911-3058_911-1411del
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 INFO_REALIGN_3_PRIME chrX 1639725
chrX:1639729
C
C
 T
T
 1 a0001c0001t0001g0215
a0001c0001t0001g0215
 1 HG01884.hp1
HG01884.hp1
 intron_variant MODIFIER c.911-3074C>T
c.911-3074C>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1639729
chrX:1639745
A
A
 G
G
 2 a0001c0001t0001g0083
a0002c0002t0001g0130
a0001c0001t0001g0083
a0002c0002t0001g0130
 2 HG02257.hp2
NA18949.hp2
HG02257.hp2
NA18949.hp2
 intron_variant MODIFIER c.911-3058A>G
c.911-3058A>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1639745
chrX:1639753
A
A
 C
C
 2 a0001c0001t0001g0083
a0002c0002t0001g0130
a0001c0001t0001g0083
a0002c0002t0001g0130
 2 HG02257.hp2
NA18949.hp2
HG02257.hp2
NA18949.hp2
 intron_variant MODIFIER c.911-3050A>C
c.911-3050A>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1639753
chrX:1639762
GCACATGA
others(241): Show 
GCACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTC
CCAGCTCTCCTGTGAGGTCCATCCATCCTGATGATCCATGAGGATGTGGA
CACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGAT
CCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGA
GATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGA
 G
G
 1 a0002c0002t0001g0130
a0002c0002t0001g0130
 1 NA18949.hp2
NA18949.hp2
 intron_variant MODIFIER c.911-3040_911-2793d
others(2): Show 
c.911-3040_911-2793del
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1639762
chrX:1639778
G
G
 A
A
 1 a0002c0002t0002g0181
a0002c0002t0002g0181
 1 HG00099.hp2
HG00099.hp2
 intron_variant MODIFIER c.911-3025G>A
c.911-3025G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1639778
chrX:1639801
G
G
 A
A
 2 a0001c0001t0001g0006
a0001c0001t0002g0135
a0001c0001t0001g0006
a0001c0001t0002g0135
 2 HG02615.hp2
HG03540.hp1
HG02615.hp2
HG03540.hp1
 intron_variant MODIFIER c.911-3002G>A
c.911-3002G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1639801
chrX:1639806
C
C
 T
T
 2 a0001c0001t0001g0006
a0001c0001t0002g0135
a0001c0001t0001g0006
a0001c0001t0002g0135
 2 HG02615.hp2
HG03540.hp1
HG02615.hp2
HG03540.hp1
 intron_variant MODIFIER c.911-2997C>T
c.911-2997C>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1639806
chrX:1639807
A
A
 G
G
 2 a0001c0001t0001g0006
a0001c0001t0002g0135
a0001c0001t0001g0006
a0001c0001t0002g0135
 2 HG02615.hp2
HG03540.hp1
HG02615.hp2
HG03540.hp1
 intron_variant MODIFIER c.911-2996A>G
c.911-2996A>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1639807
chrX:1639818
CTCCTGTG
others(2550): Show 
CTCCTGTGAGGTCCATCCATCCTGATGATCCATGAGGATGTGGACACAGC
CTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCC
CTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGG
GACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATGA
GGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTC
CTGTGAGATCCATCCATCCTGATGGCACATGAGGATGTGGGCACAGCCTC
TGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCAT
CCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGA
CAGTGTCCCAGTGTCCTGTGAGGTCCATCCCTCCTGATGGTTCATGAGGA
TGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCT
GTGAGGTCCACCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTG
TGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCT
GATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCA
TGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGCTTCATGAGGACG
TGGGCACAGCCTCTGTGTATGATGGGGACAGTGTCCCAGTGTCCTGTGAG
ATCCATCCATCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGT
GAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATG
ATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTC
CCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGC
ACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGT
CCACCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGT
GATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCATCCTGATGGCA
CATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCA
GCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATGAGGATGTGGACAC
AGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGGTCCA
TCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGAT
AGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCA
TGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGT
GTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGC
CTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACC
CATCCTGATGATCCATTAGGATGTGGACACAGCCTCTGTGTGTGTGATAG
GGACCATGTCCCAGTGTCCTGTGAGGTCCACCTATCCTGATGGTCCATGA
GGATGTGGACACAGCCGCTCTGTGTGTGATGGGGACAGTGTCCCAGCTCT
CCTGTGAGGTCCATCCATCCTGATGGTTCATGGGGACGTGAGCACAGCCT
CTGTGTGTGTGTTGGGGACAGTGTCCCAGTTCTCCTGTGAGGTCCACCCA
TCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGTGATGGGG
ACAGTGTCCCAGTGTCCTGTGAGGTCCACCCATCCTGGTGGTCCATGAGT
ACATGGACACAGCCTCTCTGTGTGAGATGGGGACAGTGTCCCAGTTCTCC
TGTGAGGTCCACCCATCCTGGTGGTCCATGAGTACATGGACACAGCCTCT
CTGTGTGTGATAAGGACAGTGTTCCAGCTCTCCTGTGAGGTCCACCCATC
TTGATGGTTCATGAGGACTTGGGCATGGCCTCTATGTGTGTGATGGGGAC
AGTGTCCCAGTGTCCTGTGAGGTCCACCCATCCTGATGGTCCATGAGGAT
GTGGGCACAACCTCTTTGTGTGTGATGGGGACAGTGTCCCAGTGTCTGTG
AGGTCCACCCATCCGATGGTTCATGAGGACGTGGGCACAGCCTCTGTGTG
TAATGGGGATAGCATCCCAGTGTCCTGTGAGGTCCATCCATCCTGATGGC
CCATGAGGATGTGGGCACAGCCTCTGTGTGTGTGTGTGTGATGGGGACGG
TGTCCCAGTTCTCCTGTGAGGTCCACCCATCCTGATGGTCCATGAGGACA
TGGGCACAGCCTCTCTGTGTGTGATAAGGACAGTGTTCCAGCTCTCCTGT
GAGGTCCACCCATCTTGATGGTTCATGAGGACTTGGGCACAGCCTCTGTG
TGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGGTCCATACATCCTGA
TGGTCCATGAGGACATGGGCACAACCTCTGTGTGTATAATGGGGACAGTG
TCCCAGTG
 C
C
 1 a0001c0001t0001g0035
a0001c0001t0001g0035
 1 HG02293.hp1
HG02293.hp1
 intron_variant MODIFIER c.911-2970_911-414de
others(1): Show 
c.911-2970_911-414del
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 INFO_REALIGN_3_PRIME chrX 1639818
chrX:1639833
T
T
 C
C
 5 a0001c0001t0001g0006
a0001c0001t0001g0041
a0001c0001t0001g0083
others(2): Show 
a0001c0001t0001g0006
a0001c0001t0001g0041
a0001c0001t0001g0083
a0001c0001t0001g0215
a0001c0001t0002g0135
 5 HG01884.hp1
HG02257.hp2
HG02615.hp2
others(2): Show 
HG01884.hp1
HG02257.hp2
HG02615.hp2
HG03540.hp1
NA18973.hp1
 intron_variant MODIFIER c.911-2970T>C
c.911-2970T>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1639833
chrX:1639845
A
A
 C
C
 1 a0001c0001t0002g0135
a0001c0001t0002g0135
 1 HG02615.hp2
HG02615.hp2
 intron_variant MODIFIER c.911-2958A>C
c.911-2958A>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1639845
chrX:1639845
A
A
 G
G
 2 a0001c0001t0003g0090
a0002c0002t0002g0181
a0001c0001t0003g0090
a0002c0002t0002g0181
 2 HG00099.hp2
HG02818.hp2
HG00099.hp2
HG02818.hp2
 intron_variant MODIFIER c.911-2958A>G
c.911-2958A>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1639845
chrX:1639846
T
T
 C
C
 1 a0002c0002t0002g0181
a0002c0002t0002g0181
 1 HG00099.hp2
HG00099.hp2
 intron_variant MODIFIER c.911-2957T>C
c.911-2957T>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1639846
chrX:1639847
C
C
 A
A
 1 a0002c0002t0002g0181
a0002c0002t0002g0181
 1 HG00099.hp2
HG00099.hp2
 intron_variant MODIFIER c.911-2956C>A
c.911-2956C>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1639847
chrX:1639847
C
C
 T
T
 3 a0001c0001t0001g0083
a0001c0001t0002g0135
a0001c0001t0003g0090
a0001c0001t0001g0083
a0001c0001t0002g0135
a0001c0001t0003g0090
 3 HG02257.hp2
HG02615.hp2
HG02818.hp2
HG02257.hp2
HG02615.hp2
HG02818.hp2
 intron_variant MODIFIER c.911-2956C>T
c.911-2956C>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1639847
chrX:1639850
T
T
 C
C
 1 a0001c0001t0002g0135
a0001c0001t0002g0135
 1 HG02615.hp2
HG02615.hp2
 intron_variant MODIFIER c.911-2953T>C
c.911-2953T>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1639850
chrX:1639856
T
T
 C
C
 3 a0001c0001t0001g0006
a0001c0001t0002g0135
a0001c0001t0003g0090
a0001c0001t0001g0006
a0001c0001t0002g0135
a0001c0001t0003g0090
 3 HG02615.hp2
HG02818.hp2
HG03540.hp1
HG02615.hp2
HG02818.hp2
HG03540.hp1
 intron_variant MODIFIER c.911-2947T>C
c.911-2947T>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1639856
chrX:1639860
G
G
 A
A
 1 a0001c0001t0003g0090
a0001c0001t0003g0090
 1 HG02818.hp2
HG02818.hp2
 intron_variant MODIFIER c.911-2943G>A
c.911-2943G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1639860
chrX:1639861
A
A
 G
G
 3 a0001c0001t0001g0006
a0001c0001t0002g0135
a0001c0001t0003g0090
a0001c0001t0001g0006
a0001c0001t0002g0135
a0001c0001t0003g0090
 3 HG02615.hp2
HG02818.hp2
HG03540.hp1
HG02615.hp2
HG02818.hp2
HG03540.hp1
 intron_variant MODIFIER c.911-2942A>G
c.911-2942A>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1639861
chrX:1639870
CTG
CTG
 C
C
 2 a0001c0001t0001g0006
a0001c0001t0002g0135
a0001c0001t0001g0006
a0001c0001t0002g0135
 2 HG02615.hp2
HG03540.hp1
HG02615.hp2
HG03540.hp1
 intron_variant MODIFIER c.911-2924_911-2923d
others(4): Show 
c.911-2924_911-2923delTG
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 INFO_REALIGN_3_PRIME chrX 1639870
chrX:1639878
G
G
 A
A
 3 a0001c0001t0001g0006
a0001c0001t0002g0135
a0001c0001t0002g0157
a0001c0001t0001g0006
a0001c0001t0002g0135
a0001c0001t0002g0157
 3 HG00735.hp2
HG02615.hp2
HG03540.hp1
HG00735.hp2
HG02615.hp2
HG03540.hp1
 intron_variant MODIFIER c.911-2925G>A
c.911-2925G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1639878
chrX:1639881
A
A
 T
T
 1 a0001c0001t0003g0090
a0001c0001t0003g0090
 1 HG02818.hp2
HG02818.hp2
 intron_variant MODIFIER c.911-2922A>T
c.911-2922A>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1639881
chrX:1639899
TGTCCTGT
others(240): Show 
TGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAG
CCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCAC
CCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATG
GGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCATCCTGATGGCACATG
AGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGC
 T
T
 1 a0001c0001t0003g0090
a0001c0001t0003g0090
 1 HG02818.hp2
HG02818.hp2
 intron_variant MODIFIER c.911-2903_911-2657d
others(2): Show 
c.911-2903_911-2657del
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1639899
chrX:1639918
C
C
 A
A
 3 a0001c0001t0001g0215
a0001c0001t0002g0135
a0001c0001t0002g0157
a0001c0001t0001g0215
a0001c0001t0002g0135
a0001c0001t0002g0157
 3 HG00735.hp2
HG01884.hp1
HG02615.hp2
HG00735.hp2
HG01884.hp1
HG02615.hp2
 intron_variant MODIFIER c.911-2885C>A
c.911-2885C>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1639918
chrX:1639928
T
T
 C
C
 2 a0001c0001t0001g0215
a0001c0001t0002g0135
a0001c0001t0001g0215
a0001c0001t0002g0135
 2 HG01884.hp1
HG02615.hp2
HG01884.hp1
HG02615.hp2
 intron_variant MODIFIER c.911-2875T>C
c.911-2875T>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1639928
chrX:1639929
T
T
 A
A
 2 a0001c0001t0001g0215
a0001c0001t0002g0135
a0001c0001t0001g0215
a0001c0001t0002g0135
 2 HG01884.hp1
HG02615.hp2
HG01884.hp1
HG02615.hp2
 intron_variant MODIFIER c.911-2874T>A
c.911-2874T>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1639929
chrX:1639966
G
G
 A
A
 1 a0001c0001t0001g0006
a0001c0001t0001g0006
 1 HG03540.hp1
HG03540.hp1
 intron_variant MODIFIER c.911-2837G>A
c.911-2837G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1639966
chrX:1639971
C
C
 T
T
 1 a0001c0001t0001g0006
a0001c0001t0001g0006
 1 HG03540.hp1
HG03540.hp1
 intron_variant MODIFIER c.911-2832C>T
c.911-2832C>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1639971
chrX:1639972
A
A
 G
G
 1 a0001c0001t0001g0006
a0001c0001t0001g0006
 1 HG03540.hp1
HG03540.hp1
 intron_variant MODIFIER c.911-2831A>G
c.911-2831A>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1639972
chrX:1639983
CTCCTGTG
others(240): Show 
CTCCTGTGAGGTCCACCCATCCTGATGATCCATGAGGATGTGGACACAGC
CTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCC
ATCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGG
GACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATGA
GGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTG
 C
C
 1 a0001c0001t0002g0157
a0001c0001t0002g0157
 1 HG00735.hp2
HG00735.hp2
 intron_variant MODIFIER c.911-2805_911-2559d
others(2): Show 
c.911-2805_911-2559del
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 INFO_REALIGN_3_PRIME chrX 1639983
chrX:1640010
A
A
 C
C
 3 a0001c0001t0001g0006
a0001c0001t0001g0041
a0001c0001t0001g0083
a0001c0001t0001g0006
a0001c0001t0001g0041
a0001c0001t0001g0083
 3 HG02257.hp2
HG03540.hp1
NA18973.hp1
HG02257.hp2
HG03540.hp1
NA18973.hp1
 intron_variant MODIFIER c.911-2793A>C
c.911-2793A>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1640010
chrX:1640012
C
C
 T
T
 4 a0001c0001t0001g0006
a0001c0001t0001g0041
a0001c0001t0001g0083
others(1): Show 
a0001c0001t0001g0006
a0001c0001t0001g0041
a0001c0001t0001g0083
a0002c0002t0001g0130
 4 HG02257.hp2
HG03540.hp1
NA18949.hp2
others(1): Show 
HG02257.hp2
HG03540.hp1
NA18949.hp2
NA18973.hp1
 intron_variant MODIFIER c.911-2791C>T
c.911-2791C>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1640012
chrX:1640016
G
G
 T
T
 2 a0001c0003t0002g0133
a0003c0009t0001g0011
a0001c0003t0002g0133
a0003c0009t0001g0011
 2 HG03486.hp2
NA19030.hp2
HG03486.hp2
NA19030.hp2
 intron_variant MODIFIER c.911-2787G>T
c.911-2787G>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1640016
chrX:1640021
T
T
 C
C
 5 a0001c0001t0001g0006
a0001c0001t0001g0041
a0001c0001t0001g0083
others(2): Show 
a0001c0001t0001g0006
a0001c0001t0001g0041
a0001c0001t0001g0083
a0001c0001t0001g0214
a0002c0006t0001g0187
 5 HG00544.hp2
HG02257.hp2
HG02622.hp1
others(2): Show 
HG00544.hp2
HG02257.hp2
HG02622.hp1
HG03540.hp1
NA18973.hp1
 intron_variant MODIFIER c.911-2782T>C
c.911-2782T>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1640021
chrX:1640026
A
A
 G
G
 4 a0001c0001t0001g0006
a0001c0001t0001g0041
a0001c0001t0001g0083
others(1): Show 
a0001c0001t0001g0006
a0001c0001t0001g0041
a0001c0001t0001g0083
a0001c0001t0001g0214
 4 HG02257.hp2
HG02622.hp1
HG03540.hp1
others(1): Show 
HG02257.hp2
HG02622.hp1
HG03540.hp1
NA18973.hp1
 intron_variant MODIFIER c.911-2777A>G
c.911-2777A>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1640026
chrX:1640035
CTG
CTG
 C
C
 6 a0001c0001t0001g0006
a0001c0001t0001g0041
a0001c0001t0001g0083
others(3): Show 
a0001c0001t0001g0006
a0001c0001t0001g0041
a0001c0001t0001g0083
a0001c0001t0001g0214
a0001c0001t0001g0215
a0001c0003t0001g0171
 6 HG01884.hp1
HG02257.hp2
HG02622.hp1
others(3): Show 
HG01884.hp1
HG02257.hp2
HG02622.hp1
HG03540.hp1
NA18973.hp1
NA21309.hp2
 intron_variant MODIFIER c.911-2759_911-2758d
others(4): Show 
c.911-2759_911-2758delTG
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 INFO_REALIGN_3_PRIME chrX 1640035
chrX:1640043
G
G
 A
A
 7 a0001c0001t0001g0006
a0001c0001t0001g0041
a0001c0001t0001g0083
others(4): Show 
a0001c0001t0001g0006
a0001c0001t0001g0041
a0001c0001t0001g0083
a0001c0001t0001g0214
a0001c0001t0001g0215
a0001c0003t0001g0171
a0002c0002t0001g0015
 7 HG01884.hp1
HG02257.hp2
HG02622.hp1
others(4): Show 
HG01884.hp1
HG02257.hp2
HG02622.hp1
HG02896.hp2
HG03540.hp1
NA18973.hp1
NA21309.hp2
 intron_variant MODIFIER c.911-2760G>A
c.911-2760G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1640043
chrX:1640048
G
G
 A
A
 1 a0002c0002t0001g0015
a0002c0002t0001g0015
 1 HG02896.hp2
HG02896.hp2
 intron_variant MODIFIER c.911-2755G>A
c.911-2755G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1640048
chrX:1640063
G
G
 GC
GC
 1 a0002c0002t0001g0015
a0002c0002t0001g0015
 1 HG02896.hp2
HG02896.hp2
 intron_variant MODIFIER c.911-2740_911-2739i
others(3): Show 
c.911-2740_911-2739insC
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1640063
chrX:1640065
G
G
 C
C
 1 a0002c0002t0001g0015
a0002c0002t0001g0015
 1 HG02896.hp2
HG02896.hp2
 intron_variant MODIFIER c.911-2738G>C
c.911-2738G>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1640065
chrX:1640065
GTCCTGTG
others(76): Show 
GTCCTGTGAGATCCATCCATCCTGATGGCACATGAGGATGTGGGCACAGC
CTCTGTGTGTGAGATAGGGACCATGTCCCAGCTC
 G
G
 2 a0001c0003t0002g0133
a0003c0009t0001g0011
a0001c0003t0002g0133
a0003c0009t0001g0011
 2 HG03486.hp2
NA19030.hp2
HG03486.hp2
NA19030.hp2
 intron_variant MODIFIER c.911-2728_911-2646d
others(85): Show 
c.911-2728_911-2646delATCCATCCATCCTGATGGCACATGAGGA
TGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCT
GTGAG
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 INFO_REALIGN_3_PRIME chrX 1640065
chrX:1640075
A
A
 G
G
 6 a0001c0001t0002g0135
a0002c0002t0001g0003
a0002c0002t0001g0015
others(3): Show 
a0001c0001t0002g0135
a0002c0002t0001g0003
a0002c0002t0001g0015
a0002c0002t0001g0130
a0002c0002t0002g0181
a0002c0006t0001g0187
 6 HG00099.hp2
HG00544.hp2
HG02615.hp2
others(3): Show 
HG00099.hp2
HG00544.hp2
HG02615.hp2
HG02896.hp2
NA18949.hp2
NA19003.hp2
 intron_variant MODIFIER c.911-2728A>G
c.911-2728A>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1640075
chrX:1640083
A
A
 C
C
 10 a0001c0001t0001g0005
a0001c0001t0001g0065
a0001c0001t0001g0084
others(7): Show 
a0001c0001t0001g0005
a0001c0001t0001g0065
a0001c0001t0001g0084
a0001c0001t0001g0086
a0001c0001t0002g0147
a0001c0003t0001g0062
a0002c0002t0001g0003
a0002c0002t0001g0130
a0002c0002t0002g0181
a0002c0006t0001g0187
 10 HG00099.hp2
HG00544.hp2
HG01975.hp1
others(7): Show 
HG00099.hp2
HG00544.hp2
HG01975.hp1
NA18949.hp2
NA18950.hp1
NA18954.hp1
NA18980.hp2
NA19003.hp2
NA19011.hp1
NA19081.hp2
 intron_variant MODIFIER c.911-2720A>C
c.911-2720A>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1640083
chrX:1640093
C
C
 T
T
 2 a0001c0001t0001g0006
a0002c0002t0001g0003
a0001c0001t0001g0006
a0002c0002t0001g0003
 2 HG03540.hp1
NA19003.hp2
HG03540.hp1
NA19003.hp2
 intron_variant MODIFIER c.911-2710C>T
c.911-2710C>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1640093
chrX:1640094
A
A
 T
T
 2 a0001c0001t0001g0006
a0002c0002t0001g0003
a0001c0001t0001g0006
a0002c0002t0001g0003
 2 HG03540.hp1
NA19003.hp2
HG03540.hp1
NA19003.hp2
 intron_variant MODIFIER c.911-2709A>T
c.911-2709A>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1640094
chrX:1640094
ACATGAGG
others(323): Show 
ACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCC
AGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATGAGGATGTGGACA
CAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGGTCC
ATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGA
TAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCC
ATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAG
TGTCCTGTGAGATCCATCCCTCCTGATGGTT
 A
A
 1 a0001c0001t0002g0135
a0001c0001t0002g0135
 1 HG02615.hp2
HG02615.hp2
 intron_variant MODIFIER c.911-2628_911-2299d
others(2): Show 
c.911-2628_911-2299del
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 INFO_REALIGN_3_PRIME chrX 1640094
chrX:1640103
T
T
 C
C
 2 a0001c0001t0002g0168
a0002c0002t0002g0217
a0001c0001t0002g0168
a0002c0002t0002g0217
 2 HG00639.hp1
HG01175.hp2
HG00639.hp1
HG01175.hp2
 intron_variant MODIFIER c.911-2700T>C
c.911-2700T>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1640103
chrX:1640145
GC
GC
 G
G
 3 a0001c0001t0001g0040
a0001c0001t0001g0128
a0002c0002t0002g0191
a0001c0001t0001g0040
a0001c0001t0001g0128
a0002c0002t0002g0191
 3 HG00099.hp1
HG01517.hp2
HG01975.hp2
HG00099.hp1
HG01517.hp2
HG01975.hp2
 intron_variant MODIFIER c.911-2657delC
c.911-2657delC
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1640145
chrX:1640148
C
C
 G
G
 3 a0001c0001t0001g0040
a0001c0001t0001g0128
a0002c0002t0002g0191
a0001c0001t0001g0040
a0001c0001t0001g0128
a0002c0002t0002g0191
 3 HG00099.hp1
HG01517.hp2
HG01975.hp2
HG00099.hp1
HG01517.hp2
HG01975.hp2
 intron_variant MODIFIER c.911-2655C>G
c.911-2655C>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1640148
chrX:1640165
C
C
 T
T
 5 a0001c0001t0001g0040
a0001c0001t0001g0128
a0001c0003t0002g0133
others(2): Show 
a0001c0001t0001g0040
a0001c0001t0001g0128
a0001c0003t0002g0133
a0002c0002t0002g0191
a0003c0009t0001g0011
 5 HG00099.hp1
HG01517.hp2
HG01975.hp2
others(2): Show 
HG00099.hp1
HG01517.hp2
HG01975.hp2
HG03486.hp2
NA19030.hp2
 intron_variant MODIFIER c.911-2638C>T
c.911-2638C>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1640165
chrX:1640175
A
A
 C
C
 3 a0001c0001t0001g0006
a0001c0001t0001g0083
a0002c0002t0002g0154
a0001c0001t0001g0006
a0001c0001t0001g0083
a0002c0002t0002g0154
 3 HG00639.hp2
HG02257.hp2
HG03540.hp1
HG00639.hp2
HG02257.hp2
HG03540.hp1
 intron_variant MODIFIER c.911-2628A>C
c.911-2628A>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1640175
chrX:1640175
A
A
 G
G
 6 a0001c0001t0001g0040
a0001c0001t0001g0128
a0001c0001t0003g0090
others(3): Show 
a0001c0001t0001g0040
a0001c0001t0001g0128
a0001c0001t0003g0090
a0001c0003t0002g0133
a0002c0002t0002g0191
a0003c0009t0001g0011
 6 HG00099.hp1
HG01517.hp2
HG01975.hp2
others(3): Show 
HG00099.hp1
HG01517.hp2
HG01975.hp2
HG02818.hp2
HG03486.hp2
NA19030.hp2
 intron_variant MODIFIER c.911-2628A>G
c.911-2628A>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1640175
chrX:1640177
C
C
 T
T
 4 a0001c0001t0001g0006
a0001c0001t0001g0083
a0001c0001t0003g0090
others(1): Show 
a0001c0001t0001g0006
a0001c0001t0001g0083
a0001c0001t0003g0090
a0002c0002t0002g0154
 4 HG00639.hp2
HG02257.hp2
HG02818.hp2
others(1): Show 
HG00639.hp2
HG02257.hp2
HG02818.hp2
HG03540.hp1
 intron_variant MODIFIER c.911-2626C>T
c.911-2626C>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1640177
chrX:1640181
G
G
 T
T
 1 a0004c0004t0004g0148
a0004c0004t0004g0148
 1 HG03831.hp2
HG03831.hp2
 intron_variant MODIFIER c.911-2622G>T
c.911-2622G>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1640181
chrX:1640186
T
T
 C
C
 6 a0001c0001t0001g0006
a0001c0001t0001g0041
a0001c0001t0001g0083
others(3): Show 
a0001c0001t0001g0006
a0001c0001t0001g0041
a0001c0001t0001g0083
a0001c0003t0002g0133
a0002c0002t0002g0154
a0003c0009t0001g0011
 6 HG00639.hp2
HG02257.hp2
HG03486.hp2
others(3): Show 
HG00639.hp2
HG02257.hp2
HG03486.hp2
HG03540.hp1
NA18973.hp1
NA19030.hp2
 intron_variant MODIFIER c.911-2617T>C
c.911-2617T>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1640186
chrX:1640191
A
A
 G
G
 7 a0001c0001t0001g0006
a0001c0001t0001g0041
a0001c0001t0001g0076
others(4): Show 
a0001c0001t0001g0006
a0001c0001t0001g0041
a0001c0001t0001g0076
a0001c0001t0001g0083
a0001c0001t0002g0168
a0001c0001t0003g0090
a0004c0004t0004g0148
 7 HG00639.hp1
HG00735.hp1
HG02257.hp2
others(4): Show 
HG00639.hp1
HG00735.hp1
HG02257.hp2
HG02818.hp2
HG03540.hp1
HG03831.hp2
NA18973.hp1
 intron_variant MODIFIER c.911-2612A>G
c.911-2612A>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1640191
chrX:1640199
T
T
 G
G
 5 a0001c0001t0001g0040
a0001c0001t0001g0128
a0001c0003t0002g0133
others(2): Show 
a0001c0001t0001g0040
a0001c0001t0001g0128
a0001c0003t0002g0133
a0002c0002t0002g0191
a0003c0009t0001g0011
 5 HG00099.hp1
HG01517.hp2
HG01975.hp2
others(2): Show 
HG00099.hp1
HG01517.hp2
HG01975.hp2
HG03486.hp2
NA19030.hp2
 intron_variant MODIFIER c.911-2604T>G
c.911-2604T>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1640199
chrX:1640200
CTG
CTG
 C
C
 5 a0001c0001t0001g0006
a0001c0001t0001g0041
a0001c0001t0001g0083
others(2): Show 
a0001c0001t0001g0006
a0001c0001t0001g0041
a0001c0001t0001g0083
a0001c0001t0001g0214
a0004c0004t0004g0148
 5 HG02257.hp2
HG02622.hp1
HG03540.hp1
others(2): Show 
HG02257.hp2
HG02622.hp1
HG03540.hp1
HG03831.hp2
NA18973.hp1
 intron_variant MODIFIER c.911-2594_911-2593d
others(4): Show 
c.911-2594_911-2593delTG
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 INFO_REALIGN_3_PRIME chrX 1640200
chrX:1640202
G
G
 C
C
 5 a0001c0001t0001g0040
a0001c0001t0001g0128
a0001c0003t0002g0133
others(2): Show 
a0001c0001t0001g0040
a0001c0001t0001g0128
a0001c0003t0002g0133
a0002c0002t0002g0191
a0003c0009t0001g0011
 5 HG00099.hp1
HG01517.hp2
HG01975.hp2
others(2): Show 
HG00099.hp1
HG01517.hp2
HG01975.hp2
HG03486.hp2
NA19030.hp2
 intron_variant MODIFIER c.911-2601G>C
c.911-2601G>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1640202
chrX:1640208
G
G
 A
A
 5 a0001c0001t0001g0006
a0001c0001t0001g0041
a0001c0001t0001g0083
others(2): Show 
a0001c0001t0001g0006
a0001c0001t0001g0041
a0001c0001t0001g0083
a0001c0001t0001g0214
a0004c0004t0004g0148
 5 HG02257.hp2
HG02622.hp1
HG03540.hp1
others(2): Show 
HG02257.hp2
HG02622.hp1
HG03540.hp1
HG03831.hp2
NA18973.hp1
 intron_variant MODIFIER c.911-2595G>A
c.911-2595G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1640208
chrX:1640228
G
G
 GC
GC
 5 a0001c0001t0001g0040
a0001c0001t0001g0128
a0001c0003t0002g0133
others(2): Show 
a0001c0001t0001g0040
a0001c0001t0001g0128
a0001c0003t0002g0133
a0002c0002t0002g0191
a0003c0009t0001g0011
 5 HG00099.hp1
HG01517.hp2
HG01975.hp2
others(2): Show 
HG00099.hp1
HG01517.hp2
HG01975.hp2
HG03486.hp2
NA19030.hp2
 intron_variant MODIFIER c.911-2575_911-2574i
others(3): Show 
c.911-2575_911-2574insC
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1640228
chrX:1640230
G
G
 C
C
 5 a0001c0001t0001g0040
a0001c0001t0001g0128
a0001c0003t0002g0133
others(2): Show 
a0001c0001t0001g0040
a0001c0001t0001g0128
a0001c0003t0002g0133
a0002c0002t0002g0191
a0003c0009t0001g0011
 5 HG00099.hp1
HG01517.hp2
HG01975.hp2
others(2): Show 
HG00099.hp1
HG01517.hp2
HG01975.hp2
HG03486.hp2
NA19030.hp2
 intron_variant MODIFIER c.911-2573G>C
c.911-2573G>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1640230
chrX:1640240
G
G
 A
A
 7 a0001c0001t0001g0006
a0001c0001t0001g0041
a0001c0001t0001g0083
others(4): Show 
a0001c0001t0001g0006
a0001c0001t0001g0041
a0001c0001t0001g0083
a0001c0001t0001g0214
a0002c0002t0001g0074
a0002c0002t0002g0154
a0002c0002t0002g0217
 7 HG00639.hp2
HG01175.hp2
HG02257.hp2
others(4): Show 
HG00639.hp2
HG01175.hp2
HG02257.hp2
HG02622.hp1
HG03540.hp1
NA18973.hp1
NA21309.hp1
 intron_variant MODIFIER c.911-2563G>A
c.911-2563G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1640240
chrX:1640245
T
T
 C
C
 1 a0001c0001t0003g0090
a0001c0001t0003g0090
 1 HG02818.hp2
HG02818.hp2
 intron_variant MODIFIER c.911-2558T>C
c.911-2558T>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1640245
chrX:1640248
C
C
 A
A
 10 a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0128
others(7): Show 
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0128
a0001c0001t0001g0214
a0001c0001t0003g0090
a0001c0003t0002g0133
a0002c0002t0002g0191
a0002c0002t0002g0217
a0003c0009t0001g0011
a0004c0004t0004g0148
 10 HG00099.hp1
HG01175.hp2
HG01517.hp2
others(7): Show 
HG00099.hp1
HG01175.hp2
HG01517.hp2
HG01975.hp2
HG02622.hp1
HG02818.hp2
HG03486.hp2
HG03831.hp2
NA18973.hp1
NA19030.hp2
 intron_variant MODIFIER c.911-2555C>A
c.911-2555C>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1640248
chrX:1640248
CTCCTGAT
others(321): Show 
CTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGG
GACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATGA
GGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTC
CTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTC
TGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCAT
CCTGATGCTTCATGAGGACGTGGGCACAGCCTCTGTGTATGATGGGGACA
GTGTCCCAGTGTCCTGTGAGATCCATCCA
 C
C
 1 a0002c0006t0001g0187
a0002c0006t0001g0187
 1 HG00544.hp2
HG00544.hp2
 intron_variant MODIFIER c.911-2545_911-2218d
others(2): Show 
c.911-2545_911-2218del
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 INFO_REALIGN_3_PRIME chrX 1640248
chrX:1640254
A
A
 G
G
 1 a0001c0001t0003g0090
a0001c0001t0003g0090
 1 HG02818.hp2
HG02818.hp2
 intron_variant MODIFIER c.911-2549A>G
c.911-2549A>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1640254
chrX:1640257
G
G
 A
A
 2 a0001c0001t0002g0157
a0002c0002t0002g0216
a0001c0001t0002g0157
a0002c0002t0002g0216
 2 HG00735.hp2
homoSapiens_chm13v2.hp1
HG00735.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.911-2546G>A
c.911-2546G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1640257
chrX:1640257
GTT
GTT
 G
G
 1 a0001c0001t0001g0215
a0001c0001t0001g0215
 1 HG01884.hp1
HG01884.hp1
 intron_variant MODIFIER c.911-2545_911-2544d
others(4): Show 
c.911-2545_911-2544delTT
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1640257
chrX:1640258
T
T
 C
C
 9 a0001c0001t0001g0041
a0001c0001t0001g0214
a0001c0001t0002g0164
others(6): Show 
a0001c0001t0001g0041
a0001c0001t0001g0214
a0001c0001t0002g0164
a0001c0001t0002g0168
a0001c0001t0002g0218
a0002c0002t0001g0018
a0002c0002t0002g0181
a0002c0002t0002g0217
a0004c0004t0004g0148
 9 HG00099.hp2
HG00639.hp1
HG00741.hp1
others(6): Show 
HG00099.hp2
HG00639.hp1
HG00741.hp1
HG01175.hp2
HG02602.hp2
HG02622.hp1
HG03831.hp2
HG03834.hp1
NA18973.hp1
 intron_variant MODIFIER c.911-2545T>C
c.911-2545T>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1640258
chrX:1640259
T
T
 A
A
 9 a0001c0001t0001g0041
a0001c0001t0001g0214
a0001c0001t0002g0164
others(6): Show 
a0001c0001t0001g0041
a0001c0001t0001g0214
a0001c0001t0002g0164
a0001c0001t0002g0168
a0001c0001t0002g0218
a0002c0002t0001g0018
a0002c0002t0002g0181
a0002c0002t0002g0217
a0004c0004t0004g0148
 9 HG00099.hp2
HG00639.hp1
HG00741.hp1
others(6): Show 
HG00099.hp2
HG00639.hp1
HG00741.hp1
HG01175.hp2
HG02602.hp2
HG02622.hp1
HG03831.hp2
HG03834.hp1
NA18973.hp1
 intron_variant MODIFIER c.911-2544T>A
c.911-2544T>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1640259
chrX:1640259
T
T
 C
C
 3 a0001c0001t0002g0157
a0001c0001t0003g0090
a0002c0002t0002g0216
a0001c0001t0002g0157
a0001c0001t0003g0090
a0002c0002t0002g0216
 3 HG00735.hp2
HG02818.hp2
homoSapiens_chm13v2.hp1
HG00735.hp2
HG02818.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.911-2544T>C
c.911-2544T>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1640259
chrX:1640261
ATGAGGAT
others(156): Show 
ATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAG
CTCTCCTGTGAGGTCCACCCATCCTGATGATCCATGAGGATGTGGACACA
GCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCAT
CCCTCCTGATGGTT
 A
A
 1 a0001c0001t0001g0215
a0001c0001t0001g0215
 1 HG01884.hp1
HG01884.hp1
 intron_variant MODIFIER c.911-2541_911-2379d
others(2): Show 
c.911-2541_911-2379del
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1640261
chrX:1640264
A
A
 G
G
 3 a0001c0001t0001g0040
a0001c0001t0001g0128
a0002c0002t0002g0191
a0001c0001t0001g0040
a0001c0001t0001g0128
a0002c0002t0002g0191
 3 HG00099.hp1
HG01517.hp2
HG01975.hp2
HG00099.hp1
HG01517.hp2
HG01975.hp2
 intron_variant MODIFIER c.911-2539A>G
c.911-2539A>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1640264
chrX:1640266
G
G
 T
T
 1 a0001c0001t0003g0090
a0001c0001t0003g0090
 1 HG02818.hp2
HG02818.hp2
 intron_variant MODIFIER c.911-2537G>T
c.911-2537G>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1640266
chrX:1640268
T
T
 C
C
 6 a0001c0001t0001g0040
a0001c0001t0001g0128
a0001c0001t0003g0090
others(3): Show 
a0001c0001t0001g0040
a0001c0001t0001g0128
a0001c0001t0003g0090
a0001c0003t0002g0133
a0002c0002t0002g0191
a0003c0009t0001g0011
 6 HG00099.hp1
HG01517.hp2
HG01975.hp2
others(3): Show 
HG00099.hp1
HG01517.hp2
HG01975.hp2
HG02818.hp2
HG03486.hp2
NA19030.hp2
 intron_variant MODIFIER c.911-2535T>C
c.911-2535T>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1640268
chrX:1640269
G
G
 A
A
 1 a0001c0001t0003g0090
a0001c0001t0003g0090
 1 HG02818.hp2
HG02818.hp2
 intron_variant MODIFIER c.911-2534G>A
c.911-2534G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1640269
chrX:1640272
G
G
 A
A
 5 a0001c0001t0001g0040
a0001c0001t0001g0128
a0001c0003t0002g0133
others(2): Show 
a0001c0001t0001g0040
a0001c0001t0001g0128
a0001c0003t0002g0133
a0002c0002t0002g0191
a0003c0009t0001g0011
 5 HG00099.hp1
HG01517.hp2
HG01975.hp2
others(2): Show 
HG00099.hp1
HG01517.hp2
HG01975.hp2
HG03486.hp2
NA19030.hp2
 intron_variant MODIFIER c.911-2531G>A
c.911-2531G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1640272
chrX:1640273
G
G
 A
A
 2 a0001c0001t0003g0090
a0001c0003t0001g0032
a0001c0001t0003g0090
a0001c0003t0001g0032
 2 HG02818.hp2
NA18980.hp1
HG02818.hp2
NA18980.hp1
 intron_variant MODIFIER c.911-2530G>A
c.911-2530G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1640273
chrX:1640282
C
C
 CTG
CTG
 1 a0001c0003t0001g0032
a0001c0003t0001g0032
 1 NA18980.hp1
NA18980.hp1
 intron_variant MODIFIER c.911-2514_911-2513d
others(4): Show 
c.911-2514_911-2513dupTG
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 INFO_REALIGN_3_PRIME chrX 1640282
chrX:1640284
G
G
 C
C
 2 a0001c0001t0001g0006
a0001c0001t0003g0090
a0001c0001t0001g0006
a0001c0001t0003g0090
 2 HG02818.hp2
HG03540.hp1
HG02818.hp2
HG03540.hp1
 intron_variant MODIFIER c.911-2519G>C
c.911-2519G>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1640284
chrX:1640288
GTGAGATA
others(398): Show 
GTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGA
TGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTG
TCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGG
GCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAG
GTCCACCCATCCTGATGCTTCATGAGGACGTGGGCACAGCCTCTGTGTAT
GATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCATCCTGATGGCA
CATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCA
GCTCTCCTGTGAGGTCCATCCATCCTGATGATCCATGAGGATGTGGACAC
AGCCTC
 G
G
 1 a0001c0001t0005g0165
a0001c0001t0005g0165
 1 HG02273.hp1
HG02273.hp1
 intron_variant MODIFIER c.911-2512_911-2108d
others(2): Show 
c.911-2512_911-2108del
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 INFO_REALIGN_3_PRIME chrX 1640288
chrX:1640291
A
A
 T
T
 5 a0001c0001t0001g0040
a0001c0001t0001g0128
a0001c0003t0002g0133
others(2): Show 
a0001c0001t0001g0040
a0001c0001t0001g0128
a0001c0003t0002g0133
a0002c0002t0002g0191
a0003c0009t0001g0011
 5 HG00099.hp1
HG01517.hp2
HG01975.hp2
others(2): Show 
HG00099.hp1
HG01517.hp2
HG01975.hp2
HG03486.hp2
NA19030.hp2
 intron_variant MODIFIER c.911-2512A>T
c.911-2512A>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1640291
chrX:1640293
A
A
 T
T
 5 a0001c0001t0001g0040
a0001c0001t0001g0128
a0001c0003t0002g0133
others(2): Show 
a0001c0001t0001g0040
a0001c0001t0001g0128
a0001c0003t0002g0133
a0002c0002t0002g0191
a0003c0009t0001g0011
 5 HG00099.hp1
HG01517.hp2
HG01975.hp2
others(2): Show 
HG00099.hp1
HG01517.hp2
HG01975.hp2
HG03486.hp2
NA19030.hp2
 intron_variant MODIFIER c.911-2510A>T
c.911-2510A>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1640293
chrX:1640295
A
A
 G
G
 6 a0001c0001t0001g0040
a0001c0001t0001g0128
a0001c0001t0003g0090
others(3): Show 
a0001c0001t0001g0040
a0001c0001t0001g0128
a0001c0001t0003g0090
a0001c0003t0002g0133
a0002c0002t0002g0191
a0003c0009t0001g0011
 6 HG00099.hp1
HG01517.hp2
HG01975.hp2
others(3): Show 
HG00099.hp1
HG01517.hp2
HG01975.hp2
HG02818.hp2
HG03486.hp2
NA19030.hp2
 intron_variant MODIFIER c.911-2508A>G
c.911-2508A>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1640295
chrX:1640296
G
G
 A
A
 1 a0001c0001t0002g0195
a0001c0001t0002g0195
 1 HG03704.hp2
HG03704.hp2
 intron_variant MODIFIER c.911-2507G>A
c.911-2507G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1640296
chrX:1640301
C
C
 A
A
 6 a0001c0001t0001g0040
a0001c0001t0001g0128
a0001c0001t0003g0090
others(3): Show 
a0001c0001t0001g0040
a0001c0001t0001g0128
a0001c0001t0003g0090
a0001c0003t0002g0133
a0002c0002t0002g0191
a0003c0009t0001g0011
 6 HG00099.hp1
HG01517.hp2
HG01975.hp2
others(3): Show 
HG00099.hp1
HG01517.hp2
HG01975.hp2
HG02818.hp2
HG03486.hp2
NA19030.hp2
 intron_variant MODIFIER c.911-2502C>A
c.911-2502C>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1640301
chrX:1640301
C
C
 T
T
 1 a0001c0001t0002g0195
a0001c0001t0002g0195
 1 HG03704.hp2
HG03704.hp2
 intron_variant MODIFIER c.911-2502C>T
c.911-2502C>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1640301
chrX:1640302
A
A
 G
G
 7 a0001c0001t0001g0040
a0001c0001t0001g0128
a0001c0001t0002g0195
others(4): Show 
a0001c0001t0001g0040
a0001c0001t0001g0128
a0001c0001t0002g0195
a0001c0001t0003g0090
a0001c0003t0002g0133
a0002c0002t0002g0191
a0003c0009t0001g0011
 7 HG00099.hp1
HG01517.hp2
HG01975.hp2
others(4): Show 
HG00099.hp1
HG01517.hp2
HG01975.hp2
HG02818.hp2
HG03486.hp2
HG03704.hp2
NA19030.hp2
 intron_variant MODIFIER c.911-2501A>G
c.911-2501A>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1640302
chrX:1640310
GCTCTCCT
others(817): Show 
GCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATGAGGATGTGGACAC
AGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCA
TCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGAT
AGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGCTTCA
TGAGGACGTGGGCACAGCCTCTGTGTATGATGGGGACAGTGTCCCAGTGT
CCTGTGAGATCCATCCATCCTGATGGCACATGAGGATGTGGGCACAGCCT
CTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCA
TCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGG
ACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGG
ATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCC
TGTGAGGTCCACCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCT
GTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCATCC
TGATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACC
ATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATGAGGAT
GTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGT
GAGGTCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTG
TGTGAGATAGGGACCATGTCCCAGC
 G
G
 1 a0002c0002t0001g0015
a0002c0002t0001g0015
 1 HG02896.hp2
HG02896.hp2
 intron_variant MODIFIER c.911-2492_911-1669d
others(2): Show 
c.911-2492_911-1669del
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1640310
chrX:1640311
C
C
 T
T
 6 a0001c0001t0001g0040
a0001c0001t0001g0128
a0001c0001t0003g0090
others(3): Show 
a0001c0001t0001g0040
a0001c0001t0001g0128
a0001c0001t0003g0090
a0001c0003t0002g0133
a0002c0002t0002g0191
a0003c0009t0001g0011
 6 HG00099.hp1
HG01517.hp2
HG01975.hp2
others(3): Show 
HG00099.hp1
HG01517.hp2
HG01975.hp2
HG02818.hp2
HG03486.hp2
NA19030.hp2
 intron_variant MODIFIER c.911-2492C>T
c.911-2492C>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1640311
chrX:1640328
C
C
 T
T
 1 a0012c0007t0001g0036
a0012c0007t0001g0036
 1 NA19082.hp1
NA19082.hp1
 intron_variant MODIFIER c.911-2475C>T
c.911-2475C>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1640328
chrX:1640331
ATCCTGAT
others(75): Show 
ATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGG
GACAGTGTCCCAGTGTCCTGTGAGATCCATCCC
 A
A
 1 a0002c0002t0002g0191
a0002c0002t0002g0191
 1 HG01517.hp2
HG01517.hp2
 intron_variant MODIFIER c.911-2463_911-2382d
others(84): Show 
c.911-2463_911-2382delATCCATGAGGATGTGGACACAGCCTCTG
TGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCT
GATG
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 INFO_REALIGN_3_PRIME chrX 1640331
chrX:1640334
C
C
 T
T
 1 a0001c0001t0003g0090
a0001c0001t0003g0090
 1 HG02818.hp2
HG02818.hp2
 intron_variant MODIFIER c.911-2469C>T
c.911-2469C>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1640334
chrX:1640337
A
A
 G
G
 3 a0001c0001t0002g0157
a0002c0002t0002g0181
a0002c0002t0002g0216
a0001c0001t0002g0157
a0002c0002t0002g0181
a0002c0002t0002g0216
 3 HG00099.hp2
HG00735.hp2
homoSapiens_chm13v2.hp1
HG00099.hp2
HG00735.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.911-2466A>G
c.911-2466A>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1640337
chrX:1640340
A
A
 C
C
 3 a0001c0001t0001g0006
a0001c0003t0001g0171
a0002c0002t0002g0217
a0001c0001t0001g0006
a0001c0003t0001g0171
a0002c0002t0002g0217
 3 HG01175.hp2
HG03540.hp1
NA21309.hp2
HG01175.hp2
HG03540.hp1
NA21309.hp2
 intron_variant MODIFIER c.911-2463A>C
c.911-2463A>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1640340
chrX:1640340
A
A
 G
G
 9 a0001c0001t0001g0040
a0001c0001t0001g0128
a0001c0001t0002g0157
others(6): Show 
a0001c0001t0001g0040
a0001c0001t0001g0128
a0001c0001t0002g0157
a0001c0001t0003g0090
a0001c0003t0002g0133
a0002c0002t0002g0181
a0002c0002t0002g0216
a0003c0009t0001g0011
a0012c0007t0001g0036
 9 HG00099.hp1
HG00099.hp2
HG00735.hp2
others(6): Show 
HG00099.hp1
HG00099.hp2
HG00735.hp2
HG01975.hp2
HG02818.hp2
HG03486.hp2
NA19030.hp2
NA19082.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.911-2463A>G
c.911-2463A>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1640340
chrX:1640341
T
T
 C
C
 1 a0012c0007t0001g0036
a0012c0007t0001g0036
 1 NA19082.hp1
NA19082.hp1
 intron_variant MODIFIER c.911-2462T>C
c.911-2462T>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1640341
chrX:1640342
C
C
 A
A
 1 a0012c0007t0001g0036
a0012c0007t0001g0036
 1 NA19082.hp1
NA19082.hp1
 intron_variant MODIFIER c.911-2461C>A
c.911-2461C>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1640342
chrX:1640342
C
C
 T
T
 10 a0001c0001t0001g0006
a0001c0001t0001g0040
a0001c0001t0001g0128
others(7): Show 
a0001c0001t0001g0006
a0001c0001t0001g0040
a0001c0001t0001g0128
a0001c0001t0002g0196
a0001c0001t0002g0218
a0001c0001t0003g0090
a0001c0003t0001g0171
a0001c0003t0002g0133
a0002c0002t0002g0217
a0003c0009t0001g0011
 10 HG00099.hp1
HG00741.hp1
HG01123.hp1
others(7): Show 
HG00099.hp1
HG00741.hp1
HG01123.hp1
HG01175.hp2
HG01975.hp2
HG02818.hp2
HG03486.hp2
HG03540.hp1
NA19030.hp2
NA21309.hp2
 intron_variant MODIFIER c.911-2461C>T
c.911-2461C>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1640342
chrX:1640346
G
G
 T
T
 3 a0001c0001t0001g0005
a0002c0002t0001g0003
a0002c0002t0001g0130
a0001c0001t0001g0005
a0002c0002t0001g0003
a0002c0002t0001g0130
 3 NA18949.hp2
NA18980.hp2
NA19003.hp2
NA18949.hp2
NA18980.hp2
NA19003.hp2
 intron_variant MODIFIER c.911-2457G>T
c.911-2457G>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1640346
chrX:1640349
G
G
 T
T
 3 a0001c0001t0002g0157
a0002c0002t0002g0181
a0002c0002t0002g0216
a0001c0001t0002g0157
a0002c0002t0002g0181
a0002c0002t0002g0216
 3 HG00099.hp2
HG00735.hp2
homoSapiens_chm13v2.hp1
HG00099.hp2
HG00735.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.911-2454G>T
c.911-2454G>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1640349
chrX:1640351
T
T
 C
C
 7 a0001c0001t0001g0006
a0001c0001t0002g0157
a0001c0001t0003g0090
others(4): Show 
a0001c0001t0001g0006
a0001c0001t0002g0157
a0001c0001t0003g0090
a0001c0003t0001g0171
a0002c0002t0002g0181
a0002c0002t0002g0216
a0002c0002t0002g0217
 7 HG00099.hp2
HG00735.hp2
HG01175.hp2
others(4): Show 
HG00099.hp2
HG00735.hp2
HG01175.hp2
HG02818.hp2
HG03540.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.911-2452T>C
c.911-2452T>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1640351
chrX:1640352
G
G
 A
A
 3 a0001c0001t0002g0157
a0002c0002t0002g0181
a0002c0002t0002g0216
a0001c0001t0002g0157
a0002c0002t0002g0181
a0002c0002t0002g0216
 3 HG00099.hp2
HG00735.hp2
homoSapiens_chm13v2.hp1
HG00099.hp2
HG00735.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.911-2451G>A
c.911-2451G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1640352
chrX:1640352
G
G
 T
T
 1 a0001c0001t0003g0090
a0001c0001t0003g0090
 1 HG02818.hp2
HG02818.hp2
 intron_variant MODIFIER c.911-2451G>T
c.911-2451G>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1640352
chrX:1640356
A
A
 G
G
 14 a0001c0001t0001g0006
a0001c0001t0001g0040
a0001c0001t0001g0065
others(11): Show 
a0001c0001t0001g0006
a0001c0001t0001g0040
a0001c0001t0001g0065
a0001c0001t0001g0084
a0001c0001t0001g0086
a0001c0001t0001g0128
a0001c0001t0002g0147
a0001c0001t0003g0090
a0001c0003t0001g0171
a0001c0003t0002g0133
a0002c0002t0001g0003
a0002c0002t0001g0130
a0002c0002t0002g0217
a0003c0009t0001g0011
 14 HG00099.hp1
HG01175.hp2
HG01975.hp2
others(11): Show 
HG00099.hp1
HG01175.hp2
HG01975.hp2
HG02818.hp2
HG03486.hp2
HG03540.hp1
NA18949.hp2
NA18950.hp1
NA18954.hp1
NA19003.hp2
NA19011.hp1
NA19030.hp2
NA19081.hp2
NA21309.hp2
 intron_variant MODIFIER c.911-2447A>G
c.911-2447A>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1640356
chrX:1640359
C
C
 T
T
 1 a0001c0001t0003g0090
a0001c0001t0003g0090
 1 HG02818.hp2
HG02818.hp2
 intron_variant MODIFIER c.911-2444C>T
c.911-2444C>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1640359
chrX:1640360
A
A
 G
G
 1 a0001c0001t0003g0090
a0001c0001t0003g0090
 1 HG02818.hp2
HG02818.hp2
 intron_variant MODIFIER c.911-2443A>G
c.911-2443A>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1640360
chrX:1640365
CTG
CTG
 C
C
 2 a0001c0001t0001g0006
a0001c0003t0001g0171
a0001c0001t0001g0006
a0001c0003t0001g0171
 2 HG03540.hp1
NA21309.hp2
HG03540.hp1
NA21309.hp2
 intron_variant MODIFIER c.911-2429_911-2428d
others(4): Show 
c.911-2429_911-2428delTG
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 INFO_REALIGN_3_PRIME chrX 1640365
chrX:1640367
G
G
 A
A
 1 a0001c0001t0003g0090
a0001c0001t0003g0090
 1 HG02818.hp2
HG02818.hp2
 intron_variant MODIFIER c.911-2436G>A
c.911-2436G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1640367
chrX:1640373
G
G
 A
A
 2 a0001c0001t0001g0006
a0001c0003t0001g0171
a0001c0001t0001g0006
a0001c0003t0001g0171
 2 HG03540.hp1
NA21309.hp2
HG03540.hp1
NA21309.hp2
 intron_variant MODIFIER c.911-2430G>A
c.911-2430G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1640373
chrX:1640395
GTCCTGTG
others(76): Show 
GTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGC
CTCTGTGTGTGAGATAGGGACCATGTCCCAGCTC
 G
G
 1 a0001c0001t0001g0086
a0001c0001t0001g0086
 1 NA18950.hp1
NA18950.hp1
 intron_variant MODIFIER c.911-2398_911-2316d
others(85): Show 
c.911-2398_911-2316delATCCATCCCTCCTGATGGTTCATGAGGA
TGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCT
GTGAG
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 INFO_REALIGN_3_PRIME chrX 1640395
chrX:1640395
GTCCTGTG
others(404): Show 
GTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGC
CTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACC
CATCCTGATGCTTCATGAGGACGTGGGCACAGCCTCTGTGTATGATGGGG
ACAGTGTCCCAGTGTCCTGTGAGATCCATCCATCCTGATGGCACATGAGG
ATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCC
TGTGAGGTCCATCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCT
GTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCC
TGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACC
ATGTCCCAGCTC
 G
G
 1 a0001c0001t0001g0005
a0001c0001t0001g0005
 1 NA18980.hp2
NA18980.hp2
 intron_variant MODIFIER c.911-2398_911-1988d
others(2): Show 
c.911-2398_911-1988del
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 INFO_REALIGN_3_PRIME chrX 1640395
chrX:1640395
GTCCTGTG
others(569): Show 
GTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGC
CTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACC
CATCCTGATGCTTCATGAGGACGTGGGCACAGCCTCTGTGTATGATGGGG
ACAGTGTCCCAGTGTCCTGTGAGATCCATCCATCCTGATGGCACATGAGG
ATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCC
TGTGAGGTCCATCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCT
GTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCC
TGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACC
ATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATGAGGAT
GTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGT
GAGATCCATCCATCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGTG
TGTGAGATAGGGACCATGTCCCAGCTC
 G
G
 3 a0001c0003t0001g0032
a0002c0002t0001g0003
a0002c0002t0001g0130
a0001c0003t0001g0032
a0002c0002t0001g0003
a0002c0002t0001g0130
 3 NA18949.hp2
NA18980.hp1
NA19003.hp2
NA18949.hp2
NA18980.hp1
NA19003.hp2
 intron_variant MODIFIER c.911-2398_911-1823d
others(2): Show 
c.911-2398_911-1823del
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 INFO_REALIGN_3_PRIME chrX 1640395
chrX:1640405
A
A
 G
G
 15 a0001c0001t0001g0065
a0001c0001t0001g0076
a0001c0001t0001g0084
others(12): Show 
a0001c0001t0001g0065
a0001c0001t0001g0076
a0001c0001t0001g0084
a0001c0001t0001g0214
a0001c0001t0002g0039
a0001c0001t0002g0147
a0001c0001t0003g0090
a0001c0003t0001g0062
a0001c0003t0001g0080
a0001c0003t0001g0107
a0001c0003t0002g0133
a0002c0002t0001g0057
a0002c0002t0001g0074
a0003c0009t0001g0011
a0004c0004t0004g0148
 15 HG00735.hp1
HG01361.hp2
HG01975.hp1
others(12): Show 
HG00735.hp1
HG01361.hp2
HG01975.hp1
HG02155.hp1
HG02165.hp1
HG02622.hp1
HG02818.hp2
HG03486.hp2
HG03831.hp2
NA18954.hp1
NA19011.hp1
NA19030.hp2
NA19065.hp1
NA19081.hp2
NA21309.hp1
 intron_variant MODIFIER c.911-2398A>G
c.911-2398A>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1640405
chrX:1640410
T
T
 C
C
 6 a0001c0001t0001g0065
a0001c0001t0001g0084
a0001c0001t0002g0147
others(3): Show 
a0001c0001t0001g0065
a0001c0001t0001g0084
a0001c0001t0002g0147
a0001c0001t0003g0090
a0001c0003t0002g0133
a0003c0009t0001g0011
 6 HG02818.hp2
HG03486.hp2
NA18954.hp1
others(3): Show 
HG02818.hp2
HG03486.hp2
NA18954.hp1
NA19011.hp1
NA19030.hp2
NA19081.hp2
 intron_variant MODIFIER c.911-2393T>C
c.911-2393T>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1640410
chrX:1640413
C
C
 A
A
 8 a0001c0001t0001g0065
a0001c0001t0001g0084
a0001c0001t0002g0147
others(5): Show 
a0001c0001t0001g0065
a0001c0001t0001g0084
a0001c0001t0002g0147
a0001c0001t0002g0168
a0001c0001t0003g0090
a0001c0003t0001g0171
a0001c0003t0002g0133
a0003c0009t0001g0011
 8 HG00639.hp1
HG02818.hp2
HG03486.hp2
others(5): Show 
HG00639.hp1
HG02818.hp2
HG03486.hp2
NA18954.hp1
NA19011.hp1
NA19030.hp2
NA19081.hp2
NA21309.hp2
 intron_variant MODIFIER c.911-2390C>A
c.911-2390C>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1640413
chrX:1640419
A
A
 G
G
 2 a0001c0003t0002g0133
a0003c0009t0001g0011
a0001c0003t0002g0133
a0003c0009t0001g0011
 2 HG03486.hp2
NA19030.hp2
HG03486.hp2
NA19030.hp2
 intron_variant MODIFIER c.911-2384A>G
c.911-2384A>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1640419
chrX:1640422
G
G
 A
A
 3 a0001c0001t0001g0065
a0001c0001t0001g0084
a0001c0001t0002g0147
a0001c0001t0001g0065
a0001c0001t0001g0084
a0001c0001t0002g0147
 3 NA18954.hp1
NA19011.hp1
NA19081.hp2
NA18954.hp1
NA19011.hp1
NA19081.hp2
 intron_variant MODIFIER c.911-2381G>A
c.911-2381G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1640422
chrX:1640422
G
G
 C
C
 2 a0001c0001t0001g0040
a0001c0001t0001g0128
a0001c0001t0001g0040
a0001c0001t0001g0128
 2 HG00099.hp1
HG01975.hp2
HG00099.hp1
HG01975.hp2
 intron_variant MODIFIER c.911-2381G>C
c.911-2381G>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1640422
chrX:1640423
T
T
 C
C
 7 a0001c0001t0001g0214
a0001c0001t0002g0168
a0001c0003t0001g0080
others(4): Show 
a0001c0001t0001g0214
a0001c0001t0002g0168
a0001c0003t0001g0080
a0001c0003t0001g0171
a0002c0002t0001g0057
a0002c0002t0001g0074
a0004c0004t0004g0148
 7 HG00639.hp1
HG01361.hp2
HG02622.hp1
others(4): Show 
HG00639.hp1
HG01361.hp2
HG02622.hp1
HG03831.hp2
NA19065.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.911-2380T>C
c.911-2380T>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1640423
chrX:1640424
T
T
 A
A
 7 a0001c0001t0001g0214
a0001c0001t0002g0168
a0001c0003t0001g0080
others(4): Show 
a0001c0001t0001g0214
a0001c0001t0002g0168
a0001c0003t0001g0080
a0001c0003t0001g0171
a0002c0002t0001g0057
a0002c0002t0001g0074
a0004c0004t0004g0148
 7 HG00639.hp1
HG01361.hp2
HG02622.hp1
others(4): Show 
HG00639.hp1
HG01361.hp2
HG02622.hp1
HG03831.hp2
NA19065.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.911-2379T>A
c.911-2379T>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1640424
chrX:1640424
T
T
 C
C
 6 a0001c0001t0001g0065
a0001c0001t0001g0084
a0001c0001t0002g0147
others(3): Show 
a0001c0001t0001g0065
a0001c0001t0001g0084
a0001c0001t0002g0147
a0001c0001t0003g0090
a0001c0003t0002g0133
a0003c0009t0001g0011
 6 HG02818.hp2
HG03486.hp2
NA18954.hp1
others(3): Show 
HG02818.hp2
HG03486.hp2
NA18954.hp1
NA19011.hp1
NA19030.hp2
NA19081.hp2
 intron_variant MODIFIER c.911-2379T>C
c.911-2379T>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1640424
chrX:1640431
G
G
 T
T
 2 a0001c0003t0002g0133
a0003c0009t0001g0011
a0001c0003t0002g0133
a0003c0009t0001g0011
 2 HG03486.hp2
NA19030.hp2
HG03486.hp2
NA19030.hp2
 intron_variant MODIFIER c.911-2372G>T
c.911-2372G>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1640431
chrX:1640433
T
T
 C
C
 2 a0001c0003t0002g0133
a0003c0009t0001g0011
a0001c0003t0002g0133
a0003c0009t0001g0011
 2 HG03486.hp2
NA19030.hp2
HG03486.hp2
NA19030.hp2
 intron_variant MODIFIER c.911-2370T>C
c.911-2370T>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1640433
chrX:1640434
G
G
 A
A
 2 a0001c0003t0002g0133
a0003c0009t0001g0011
a0001c0003t0002g0133
a0003c0009t0001g0011
 2 HG03486.hp2
NA19030.hp2
HG03486.hp2
NA19030.hp2
 intron_variant MODIFIER c.911-2369G>A
c.911-2369G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1640434
chrX:1640438
G
G
 A
A
 4 a0001c0003t0001g0062
a0001c0003t0002g0133
a0003c0009t0001g0011
others(1): Show 
a0001c0003t0001g0062
a0001c0003t0002g0133
a0003c0009t0001g0011
a0004c0004t0004g0148
 4 HG01975.hp1
HG03486.hp2
HG03831.hp2
others(1): Show 
HG01975.hp1
HG03486.hp2
HG03831.hp2
NA19030.hp2
 intron_variant MODIFIER c.911-2365G>A
c.911-2365G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1640438
chrX:1640443
G
G
 A
A
 1 a0001c0001t0003g0090
a0001c0001t0003g0090
 1 HG02818.hp2
HG02818.hp2
 intron_variant MODIFIER c.911-2360G>A
c.911-2360G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1640443
chrX:1640447
CTGTGTGT
others(241): Show 
CTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCA
TCCTGATGCTTCATGAGGACGTGGGCACAGCCTCTGTGTATGATGGGGAC
AGTGTCCCAGTGTCCTGTGAGATCCATCCATCCTGATGGCACATGAGGAT
GTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTG
TGAGGTCCATCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTG
 C
C
 1 a0001c0003t0001g0062
a0001c0003t0001g0062
 1 HG01975.hp1
HG01975.hp1
 intron_variant MODIFIER c.911-2346_911-2099d
others(2): Show 
c.911-2346_911-2099del
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 INFO_REALIGN_3_PRIME chrX 1640447
chrX:1640449
G
G
 C
C
 2 a0001c0003t0002g0133
a0003c0009t0001g0011
a0001c0003t0002g0133
a0003c0009t0001g0011
 2 HG03486.hp2
NA19030.hp2
HG03486.hp2
NA19030.hp2
 intron_variant MODIFIER c.911-2354G>C
c.911-2354G>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1640449
chrX:1640449
G
G
 T
T
 1 a0001c0001t0003g0090
a0001c0001t0003g0090
 1 HG02818.hp2
HG02818.hp2
 intron_variant MODIFIER c.911-2354G>T
c.911-2354G>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1640449
chrX:1640456
A
A
 T
T
 4 a0001c0001t0001g0065
a0001c0001t0001g0084
a0001c0001t0002g0147
others(1): Show 
a0001c0001t0001g0065
a0001c0001t0001g0084
a0001c0001t0002g0147
a0001c0001t0003g0090
 4 HG02818.hp2
NA18954.hp1
NA19011.hp1
others(1): Show 
HG02818.hp2
NA18954.hp1
NA19011.hp1
NA19081.hp2
 intron_variant MODIFIER c.911-2347A>T
c.911-2347A>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1640456
chrX:1640460
A
A
 G
G
 6 a0001c0001t0001g0065
a0001c0001t0001g0084
a0001c0001t0002g0147
others(3): Show 
a0001c0001t0001g0065
a0001c0001t0001g0084
a0001c0001t0002g0147
a0001c0001t0003g0090
a0001c0003t0002g0133
a0003c0009t0001g0011
 6 HG02818.hp2
HG03486.hp2
NA18954.hp1
others(3): Show 
HG02818.hp2
HG03486.hp2
NA18954.hp1
NA19011.hp1
NA19030.hp2
NA19081.hp2
 intron_variant MODIFIER c.911-2343A>G
c.911-2343A>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1640460
chrX:1640461
G
G
 A
A
 12 a0001c0001t0001g0001
a0001c0001t0001g0024
a0001c0001t0001g0121
others(9): Show 
a0001c0001t0001g0001
a0001c0001t0001g0024
a0001c0001t0001g0121
a0001c0001t0002g0135
a0001c0001t0002g0184
a0001c0001t0002g0195
a0001c0003t0001g0070
a0002c0002t0001g0119
a0002c0002t0002g0160
a0002c0002t0002g0166
a0002c0002t0002g0172
a0002c0002t0002g0183
 13 HG01168.hp2
HG01884.hp2
HG02080.hp1
others(10): Show 
HG01168.hp2
HG01884.hp2
HG02080.hp1
HG02280.hp2
HG02559.hp1
HG02615.hp2
HG03041.hp2
HG03516.hp2
HG03704.hp2
HG03831.hp1
NA19057.hp1
NA19240.hp1
NA20129.hp2
 intron_variant MODIFIER c.911-2342G>A
c.911-2342G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1640461
chrX:1640466
C
C
 A
A
 6 a0001c0001t0001g0065
a0001c0001t0001g0084
a0001c0001t0002g0147
others(3): Show 
a0001c0001t0001g0065
a0001c0001t0001g0084
a0001c0001t0002g0147
a0001c0001t0003g0090
a0001c0003t0002g0133
a0003c0009t0001g0011
 6 HG02818.hp2
HG03486.hp2
NA18954.hp1
others(3): Show 
HG02818.hp2
HG03486.hp2
NA18954.hp1
NA19011.hp1
NA19030.hp2
NA19081.hp2
 intron_variant MODIFIER c.911-2337C>A
c.911-2337C>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1640466
chrX:1640466
C
C
 T
T
 10 a0001c0001t0001g0001
a0001c0001t0001g0024
a0001c0001t0001g0121
others(7): Show 
a0001c0001t0001g0001
a0001c0001t0001g0024
a0001c0001t0001g0121
a0001c0001t0002g0135
a0001c0001t0002g0184
a0001c0003t0001g0070
a0002c0002t0001g0119
a0002c0002t0002g0160
a0002c0002t0002g0166
a0002c0002t0002g0172
 11 HG01168.hp2
HG01884.hp2
HG02080.hp1
others(8): Show 
HG01168.hp2
HG01884.hp2
HG02080.hp1
HG02280.hp2
HG02559.hp1
HG02615.hp2
HG03041.hp2
HG03516.hp2
HG03831.hp1
NA19057.hp1
NA19240.hp1
 intron_variant MODIFIER c.911-2337C>T
c.911-2337C>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1640466
chrX:1640467
A
A
 G
G
 16 a0001c0001t0001g0001
a0001c0001t0001g0024
a0001c0001t0001g0065
others(13): Show 
a0001c0001t0001g0001
a0001c0001t0001g0024
a0001c0001t0001g0065
a0001c0001t0001g0084
a0001c0001t0001g0121
a0001c0001t0002g0135
a0001c0001t0002g0147
a0001c0001t0002g0184
a0001c0001t0003g0090
a0001c0003t0001g0070
a0001c0003t0002g0133
a0002c0002t0001g0119
a0002c0002t0002g0160
a0002c0002t0002g0166
a0002c0002t0002g0172
a0003c0009t0001g0011
 17 HG01168.hp2
HG01884.hp2
HG02080.hp1
others(14): Show 
HG01168.hp2
HG01884.hp2
HG02080.hp1
HG02280.hp2
HG02559.hp1
HG02615.hp2
HG02818.hp2
HG03041.hp2
HG03486.hp2
HG03516.hp2
HG03831.hp1
NA18954.hp1
NA19011.hp1
NA19030.hp2
NA19057.hp1
NA19081.hp2
NA19240.hp1
 intron_variant MODIFIER c.911-2336A>G
c.911-2336A>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1640467
chrX:1640475
GC
GC
 G
G
 4 a0001c0001t0001g0065
a0001c0001t0001g0084
a0001c0001t0002g0147
others(1): Show 
a0001c0001t0001g0065
a0001c0001t0001g0084
a0001c0001t0002g0147
a0001c0001t0003g0090
 4 HG02818.hp2
NA18954.hp1
NA19011.hp1
others(1): Show 
HG02818.hp2
NA18954.hp1
NA19011.hp1
NA19081.hp2
 intron_variant MODIFIER c.911-2327delC
c.911-2327delC
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1640475
chrX:1640476
C
C
 T
T
 2 a0001c0003t0002g0133
a0003c0009t0001g0011
a0001c0003t0002g0133
a0003c0009t0001g0011
 2 HG03486.hp2
NA19030.hp2
HG03486.hp2
NA19030.hp2
 intron_variant MODIFIER c.911-2327C>T
c.911-2327C>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1640476
chrX:1640478
C
C
 G
G
 4 a0001c0001t0001g0065
a0001c0001t0001g0084
a0001c0001t0002g0147
others(1): Show 
a0001c0001t0001g0065
a0001c0001t0001g0084
a0001c0001t0002g0147
a0001c0001t0003g0090
 4 HG02818.hp2
NA18954.hp1
NA19011.hp1
others(1): Show 
HG02818.hp2
NA18954.hp1
NA19011.hp1
NA19081.hp2
 intron_variant MODIFIER c.911-2325C>G
c.911-2325C>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1640478
chrX:1640479
TC
TC
 T
T
 1 a0001c0001t0003g0090
a0001c0001t0003g0090
 1 HG02818.hp2
HG02818.hp2
 intron_variant MODIFIER c.911-2322delC
c.911-2322delC
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 INFO_REALIGN_3_PRIME chrX 1640479
chrX:1640488
G
G
 A
A
 1 a0001c0001t0002g0134
a0001c0001t0002g0134
 1 HG02615.hp1
HG02615.hp1
 intron_variant MODIFIER c.911-2315G>A
c.911-2315G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1640488
chrX:1640502
A
A
 G
G
 2 a0001c0003t0002g0133
a0003c0009t0001g0011
a0001c0003t0002g0133
a0003c0009t0001g0011
 2 HG03486.hp2
NA19030.hp2
HG03486.hp2
NA19030.hp2
 intron_variant MODIFIER c.911-2301A>G
c.911-2301A>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1640502
chrX:1640505
C
C
 A
A
 1 a0002c0002t0002g0191
a0002c0002t0002g0191
 1 HG01517.hp2
HG01517.hp2
 intron_variant MODIFIER c.911-2298C>A
c.911-2298C>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1640505
chrX:1640505
C
C
 G
G
 8 a0001c0001t0002g0134
a0001c0001t0003g0090
a0001c0003t0002g0133
others(5): Show 
a0001c0001t0002g0134
a0001c0001t0003g0090
a0001c0003t0002g0133
a0001c0003t0002g0150
a0001c0003t0002g0177
a0002c0002t0001g0026
a0002c0002t0002g0178
a0003c0009t0001g0011
 8 HG01934.hp1
HG01978.hp2
HG02273.hp2
others(5): Show 
HG01934.hp1
HG01978.hp2
HG02273.hp2
HG02615.hp1
HG02818.hp2
HG03486.hp2
NA19010.hp2
NA19030.hp2
 intron_variant MODIFIER c.911-2298C>G
c.911-2298C>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1640505
chrX:1640507
T
T
 C
C
 3 a0001c0003t0002g0133
a0002c0002t0002g0191
a0003c0009t0001g0011
a0001c0003t0002g0133
a0002c0002t0002g0191
a0003c0009t0001g0011
 3 HG01517.hp2
HG03486.hp2
NA19030.hp2
HG01517.hp2
HG03486.hp2
NA19030.hp2
 intron_variant MODIFIER c.911-2296T>C
c.911-2296T>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1640507
chrX:1640510
T
T
 C
C
 4 a0001c0001t0001g0006
a0001c0001t0002g0039
a0001c0001t0002g0135
others(1): Show 
a0001c0001t0001g0006
a0001c0001t0002g0039
a0001c0001t0002g0135
a0002c0002t0002g0160
 4 HG02165.hp1
HG02615.hp2
HG03516.hp2
others(1): Show 
HG02165.hp1
HG02615.hp2
HG03516.hp2
HG03540.hp1
 intron_variant MODIFIER c.911-2293T>C
c.911-2293T>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1640510
chrX:1640514
G
G
 T
T
 2 a0001c0003t0002g0133
a0003c0009t0001g0011
a0001c0003t0002g0133
a0003c0009t0001g0011
 2 HG03486.hp2
NA19030.hp2
HG03486.hp2
NA19030.hp2
 intron_variant MODIFIER c.911-2289G>T
c.911-2289G>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1640514
chrX:1640516
C
C
 G
G
 1 a0001c0001t0001g0121
a0001c0001t0001g0121
 1 HG03041.hp2
HG03041.hp2
 intron_variant MODIFIER c.911-2287C>G
c.911-2287C>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1640516
chrX:1640516
C
C
 T
T
 5 a0001c0003t0002g0150
a0001c0003t0002g0177
a0002c0002t0001g0026
others(2): Show 
a0001c0003t0002g0150
a0001c0003t0002g0177
a0002c0002t0001g0026
a0002c0002t0002g0178
a0002c0002t0002g0191
 5 HG01517.hp2
HG01934.hp1
HG01978.hp2
others(2): Show 
HG01517.hp2
HG01934.hp1
HG01978.hp2
HG02273.hp2
NA19010.hp2
 intron_variant MODIFIER c.911-2287C>T
c.911-2287C>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1640516
chrX:1640517
G
G
 A
A
 3 a0001c0001t0001g0121
a0001c0003t0002g0133
a0003c0009t0001g0011
a0001c0001t0001g0121
a0001c0003t0002g0133
a0003c0009t0001g0011
 3 HG03041.hp2
HG03486.hp2
NA19030.hp2
HG03041.hp2
HG03486.hp2
NA19030.hp2
 intron_variant MODIFIER c.911-2286G>A
c.911-2286G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1640517
chrX:1640521
G
G
 A
A
 3 a0001c0001t0001g0056
a0001c0003t0002g0133
a0003c0009t0001g0011
a0001c0001t0001g0056
a0001c0003t0002g0133
a0003c0009t0001g0011
 3 HG00323.hp1
HG03486.hp2
NA19030.hp2
HG00323.hp1
HG03486.hp2
NA19030.hp2
 intron_variant MODIFIER c.911-2282G>A
c.911-2282G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1640521
chrX:1640527
C
C
 CCT
CCT
 2 a0001c0003t0002g0133
a0003c0009t0001g0011
a0001c0003t0002g0133
a0003c0009t0001g0011
 2 HG03486.hp2
NA19030.hp2
HG03486.hp2
NA19030.hp2
 intron_variant MODIFIER c.911-2273_911-2272d
others(4): Show 
c.911-2273_911-2272dupCT
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 INFO_REALIGN_3_PRIME chrX 1640527
chrX:1640536
A
A
 G
G
 4 a0001c0001t0002g0134
a0001c0001t0003g0090
a0001c0003t0002g0133
others(1): Show 
a0001c0001t0002g0134
a0001c0001t0003g0090
a0001c0003t0002g0133
a0003c0009t0001g0011
 4 HG02615.hp1
HG02818.hp2
HG03486.hp2
others(1): Show 
HG02615.hp1
HG02818.hp2
HG03486.hp2
NA19030.hp2
 intron_variant MODIFIER c.911-2267A>G
c.911-2267A>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1640536
chrX:1640536
ATGATGGG
others(323): Show 
ATGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCATCCTGATGG
CACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCC
CAGCTCTCCTGTGAGGTCCATCCATCCTGATGATCCATGAGGATGTGGAC
ACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATC
CATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAG
ATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATC
CATGAGGATGTGGACACAGCCTCTGTGTGTG
 A
A
 1 a0013c0017t0001g0111
a0013c0017t0001g0111
 1 HG02523.hp1
HG02523.hp1
 intron_variant MODIFIER c.911-2147_911-1818d
others(2): Show 
c.911-2147_911-1818del
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 INFO_REALIGN_3_PRIME chrX 1640536
chrX:1640538
G
G
 A
A
 2 a0001c0001t0002g0134
a0001c0001t0003g0090
a0001c0001t0002g0134
a0001c0001t0003g0090
 2 HG02615.hp1
HG02818.hp2
HG02615.hp1
HG02818.hp2
 intron_variant MODIFIER c.911-2265G>A
c.911-2265G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1640538
chrX:1640541
G
G
 A
A
 5 a0001c0001t0001g0056
a0001c0001t0001g0158
a0001c0001t0002g0039
others(2): Show 
a0001c0001t0001g0056
a0001c0001t0001g0158
a0001c0001t0002g0039
a0001c0003t0002g0133
a0003c0009t0001g0011
 5 HG00323.hp1
HG02165.hp1
HG03195.hp2
others(2): Show 
HG00323.hp1
HG02165.hp1
HG03195.hp2
HG03486.hp2
NA19030.hp2
 intron_variant MODIFIER c.911-2262G>A
c.911-2262G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1640541
chrX:1640542
G
G
 A
A
 2 a0001c0003t0002g0133
a0003c0009t0001g0011
a0001c0003t0002g0133
a0003c0009t0001g0011
 2 HG03486.hp2
NA19030.hp2
HG03486.hp2
NA19030.hp2
 intron_variant MODIFIER c.911-2261G>A
c.911-2261G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1640542
chrX:1640546
C
C
 T
T
 2 a0001c0001t0002g0134
a0001c0001t0003g0090
a0001c0001t0002g0134
a0001c0001t0003g0090
 2 HG02615.hp1
HG02818.hp2
HG02615.hp1
HG02818.hp2
 intron_variant MODIFIER c.911-2257C>T
c.911-2257C>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1640546
chrX:1640549
T
T
 C
C
 2 a0001c0001t0002g0134
a0001c0001t0003g0090
a0001c0001t0002g0134
a0001c0001t0003g0090
 2 HG02615.hp1
HG02818.hp2
HG02615.hp1
HG02818.hp2
 intron_variant MODIFIER c.911-2254T>C
c.911-2254T>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1640549
chrX:1640550
G
G
 A
A
 2 a0001c0001t0002g0134
a0001c0001t0003g0090
a0001c0001t0002g0134
a0001c0001t0003g0090
 2 HG02615.hp1
HG02818.hp2
HG02615.hp1
HG02818.hp2
 intron_variant MODIFIER c.911-2253G>A
c.911-2253G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1640550
chrX:1640552
C
C
 T
T
 2 a0001c0003t0002g0133
a0003c0009t0001g0011
a0001c0003t0002g0133
a0003c0009t0001g0011
 2 HG03486.hp2
NA19030.hp2
HG03486.hp2
NA19030.hp2
 intron_variant MODIFIER c.911-2251C>T
c.911-2251C>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1640552
chrX:1640556
G
G
 GC
GC
 2 a0001c0003t0002g0133
a0003c0009t0001g0011
a0001c0003t0002g0133
a0003c0009t0001g0011
 2 HG03486.hp2
NA19030.hp2
HG03486.hp2
NA19030.hp2
 intron_variant MODIFIER c.911-2247_911-2246i
others(3): Show 
c.911-2247_911-2246insC
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1640556
chrX:1640558
G
G
 C
C
 2 a0001c0003t0002g0133
a0003c0009t0001g0011
a0001c0003t0002g0133
a0003c0009t0001g0011
 2 HG03486.hp2
NA19030.hp2
HG03486.hp2
NA19030.hp2
 intron_variant MODIFIER c.911-2245G>C
c.911-2245G>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1640558
chrX:1640568
A
A
 G
G
 37 a0001c0001t0001g0001
a0001c0001t0001g0024
a0001c0001t0001g0065
others(34): Show 
a0001c0001t0001g0001
a0001c0001t0001g0024
a0001c0001t0001g0065
a0001c0001t0001g0084
a0001c0001t0001g0086
a0001c0001t0001g0100
a0001c0001t0001g0102
a0001c0001t0001g0103
a0001c0001t0001g0121
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0002g0039
a0001c0001t0002g0134
a0001c0001t0002g0147
a0001c0001t0003g0090
a0001c0003t0001g0070
a0001c0003t0001g0080
a0001c0003t0001g0092
a0001c0003t0001g0115
a0001c0003t0001g0193
a0001c0003t0001g0219
a0001c0003t0002g0133
a0001c0003t0002g0142
a0001c0003t0002g0150
a0001c0003t0002g0155
a0001c0003t0002g0177
a0001c0003t0002g0182
a0002c0002t0001g0026
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0119
a0002c0002t0001g0124
a0002c0002t0002g0166
a0002c0002t0002g0172
a0002c0002t0002g0178
a0003c0009t0001g0011
a0008c0013t0001g0101
 38 HG01168.hp2
HG01361.hp1
HG01516.hp1
others(35): Show 
HG01168.hp2
HG01361.hp1
HG01516.hp1
HG01517.hp1
HG01884.hp2
HG01934.hp1
HG01978.hp2
HG02080.hp1
HG02165.hp1
HG02273.hp2
HG02559.hp1
HG02615.hp1
HG02818.hp2
HG03041.hp2
HG03486.hp2
HG03491.hp1
HG03831.hp1
NA18939.hp1
NA18941.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp2
NA18954.hp1
NA18956.hp2
NA18977.hp2
NA18985.hp1
NA18992.hp2
NA19002.hp1
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp2
NA19057.hp1
NA19065.hp1
NA19074.hp2
NA19081.hp2
NA19240.hp1
 intron_variant MODIFIER c.911-2235A>G
c.911-2235A>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1640568
chrX:1640573
T
T
 C
C
 2 a0001c0003t0002g0133
a0003c0009t0001g0011
a0001c0003t0002g0133
a0003c0009t0001g0011
 2 HG03486.hp2
NA19030.hp2
HG03486.hp2
NA19030.hp2
 intron_variant MODIFIER c.911-2230T>C
c.911-2230T>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1640573
chrX:1640576
A
A
 C
C
 18 a0001c0001t0001g0001
a0001c0001t0001g0024
a0001c0001t0001g0065
others(15): Show 
a0001c0001t0001g0001
a0001c0001t0001g0024
a0001c0001t0001g0065
a0001c0001t0001g0084
a0001c0001t0001g0086
a0001c0001t0001g0121
a0001c0001t0002g0147
a0001c0001t0002g0196
a0001c0003t0001g0070
a0001c0003t0001g0080
a0001c0003t0002g0155
a0001c0003t0002g0177
a0002c0002t0001g0026
a0002c0002t0001g0119
a0002c0002t0002g0160
a0002c0002t0002g0166
a0002c0002t0002g0172
a0002c0002t0002g0178
 19 HG01123.hp1
HG01168.hp2
HG01884.hp2
others(16): Show 
HG01123.hp1
HG01168.hp2
HG01884.hp2
HG01934.hp1
HG01978.hp2
HG02080.hp1
HG02273.hp2
HG02559.hp1
HG03041.hp2
HG03516.hp2
HG03831.hp1
NA18950.hp1
NA18954.hp1
NA18977.hp2
NA19011.hp1
NA19057.hp1
NA19065.hp1
NA19081.hp2
NA19240.hp1
 intron_variant MODIFIER c.911-2227A>C
c.911-2227A>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1640576
chrX:1640579
C
C
 T
T
 2 a0001c0003t0002g0133
a0003c0009t0001g0011
a0001c0003t0002g0133
a0003c0009t0001g0011
 2 HG03486.hp2
NA19030.hp2
HG03486.hp2
NA19030.hp2
 intron_variant MODIFIER c.911-2224C>T
c.911-2224C>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1640579
chrX:1640585
GCACATGA
others(571): Show 
GCACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTC
CCAGCTCTCCTGTGAGGTCCATCCATCCTGATGATCCATGAGGATGTGGA
CACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGAT
CCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGA
GATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGAT
CCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCC
AGTGTCCTGTGAGATCCATCCATCCTGATGGCACATGAGGATGTGGGCAC
AGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCC
ACCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGA
TGGGGACAGTGTCCCAGTGTCCTGTGAGGTCCATCCCTCCTGATGGTTCA
TGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGC
TCTCCTGTGAGGTCCACCCATCCTGATGA
 G
G
 1 a0001c0003t0002g0142
a0001c0003t0002g0142
 1 HG03491.hp1
HG03491.hp1
 intron_variant MODIFIER c.911-2217_911-1640d
others(2): Show 
c.911-2217_911-1640del
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1640585
chrX:1640586
C
C
 T
T
 2 a0001c0003t0002g0133
a0003c0009t0001g0011
a0001c0003t0002g0133
a0003c0009t0001g0011
 2 HG03486.hp2
NA19030.hp2
HG03486.hp2
NA19030.hp2
 intron_variant MODIFIER c.911-2217C>T
c.911-2217C>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1640586
chrX:1640587
A
A
 C
C
 2 a0001c0001t0002g0134
a0001c0001t0003g0090
a0001c0001t0002g0134
a0001c0001t0003g0090
 2 HG02615.hp1
HG02818.hp2
HG02615.hp1
HG02818.hp2
 intron_variant MODIFIER c.911-2216A>C
c.911-2216A>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1640587
chrX:1640587
A
A
 T
T
 2 a0001c0003t0002g0133
a0003c0009t0001g0011
a0001c0003t0002g0133
a0003c0009t0001g0011
 2 HG03486.hp2
NA19030.hp2
HG03486.hp2
NA19030.hp2
 intron_variant MODIFIER c.911-2216A>T
c.911-2216A>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1640587
chrX:1640587
ACATGAGG
others(488): Show 
ACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCC
AGCTCTCCTGTGAGGTCCATCCATCCTGATGATCCATGAGGATGTGGACA
CAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCC
ATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGA
TAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCC
ATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAG
TGTCCTGTGAGATCCATCCATCCTGATGGCACATGAGGATGTGGGCACAG
CCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCAC
CCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATG
GGGACAGTGTCCCAGTGTCCTGTGAGGTCCATCCCTCCTGATGGTT
 A
A
 2 a0001c0001t0001g0158
a0002c0002t0002g0191
a0001c0001t0001g0158
a0002c0002t0002g0191
 2 HG01517.hp2
HG03195.hp2
HG01517.hp2
HG03195.hp2
 intron_variant MODIFIER c.911-2147_911-1653d
others(2): Show 
c.911-2147_911-1653del
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 INFO_REALIGN_3_PRIME chrX 1640587
chrX:1640587
ACATGAGG
others(653): Show 
ACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCC
AGCTCTCCTGTGAGGTCCATCCATCCTGATGATCCATGAGGATGTGGACA
CAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCC
ATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGA
TAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCC
ATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAG
TGTCCTGTGAGATCCATCCATCCTGATGGCACATGAGGATGTGGGCACAG
CCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCAC
CCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATG
GGGACAGTGTCCCAGTGTCCTGTGAGGTCCATCCCTCCTGATGGTTCATG
AGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTC
TCCTGTGAGGTCCACCCATCCTGATGATCCATGAGGATGTGGACACAGCC
TCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCC
TCCTGATGGTT
 A
A
 10 a0001c0001t0001g0214
a0001c0001t0001g0215
a0001c0001t0002g0164
others(7): Show 
a0001c0001t0001g0214
a0001c0001t0001g0215
a0001c0001t0002g0164
a0001c0003t0001g0107
a0002c0002t0001g0018
a0002c0002t0001g0074
a0002c0002t0002g0154
a0002c0002t0002g0183
a0002c0002t0002g0217
a0012c0007t0001g0036
 10 HG00639.hp2
HG01175.hp2
HG01884.hp1
others(7): Show 
HG00639.hp2
HG01175.hp2
HG01884.hp1
HG02155.hp1
HG02602.hp2
HG02622.hp1
HG03834.hp1
NA19082.hp1
NA20129.hp2
NA21309.hp1
 intron_variant MODIFIER c.911-2147_911-1488d
others(2): Show 
c.911-2147_911-1488del
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 INFO_REALIGN_3_PRIME chrX 1640587
chrX:1640591
GAGGATGT
others(736): Show 
GAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCT
CTCCTGTGAGGTCCATCCATCCTGATGATCCATGAGGATGTGGACACAGC
CTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCC
CTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGG
GACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATGA
GGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTC
CTGTGAGATCCATCCATCCTGATGGCACATGAGGATGTGGGCACAGCCTC
TGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCAT
CCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGA
CAGTGTCCCAGTGTCCTGTGAGGTCCATCCCTCCTGATGGTTCATGAGGA
TGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCT
GTGAGGTCCACCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTG
TGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCT
GATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCA
TGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATT
 G
G
 2 a0001c0001t0001g0040
a0001c0001t0001g0128
a0001c0001t0001g0040
a0001c0001t0001g0128
 2 HG00099.hp1
HG01975.hp2
HG00099.hp1
HG01975.hp2
 intron_variant MODIFIER c.911-2202_911-1460d
others(2): Show 
c.911-2202_911-1460del
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 INFO_REALIGN_3_PRIME chrX 1640591
chrX:1640596
T
T
 C
C
 2 a0001c0003t0002g0133
a0003c0009t0001g0011
a0001c0003t0002g0133
a0003c0009t0001g0011
 2 HG03486.hp2
NA19030.hp2
HG03486.hp2
NA19030.hp2
 intron_variant MODIFIER c.911-2207T>C
c.911-2207T>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1640596
chrX:1640597
G
G
 T
T
 2 a0001c0003t0002g0133
a0003c0009t0001g0011
a0001c0003t0002g0133
a0003c0009t0001g0011
 2 HG03486.hp2
NA19030.hp2
HG03486.hp2
NA19030.hp2
 intron_variant MODIFIER c.911-2206G>T
c.911-2206G>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1640597
chrX:1640601
G
G
 A
A
 1 a0001c0001t0001g0056
a0001c0001t0001g0056
 1 HG00323.hp1
HG00323.hp1
 intron_variant MODIFIER c.911-2202G>A
c.911-2202G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1640601
chrX:1640601
GCACAGCC
others(736): Show 
GCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAG
GTCCATCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGT
GTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGG
TTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCC
CAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATGAGGATGTGGAC
ACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATC
CATCCATCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTGAG
ATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATC
CATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCA
GTGTCCTGTGAGGTCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACA
GCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCA
CCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGAT
GGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCAT
GAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCT
CTCCTGTGAGGTCCACCCATCCTGATGATCCATTAGGATGTGGA
 G
G
 1 a0001c0003t0001g0171
a0001c0003t0001g0171
 1 NA21309.hp2
NA21309.hp2
 intron_variant MODIFIER c.911-2184_911-1442d
others(2): Show 
c.911-2184_911-1442del
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 INFO_REALIGN_3_PRIME chrX 1640601
chrX:1640610
CTGTGTGT
others(243): Show 
CTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCA
TCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGG
ACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGG
ATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCC
TGTGAGGTCCACCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCT
G
 C
C
 1 a0001c0001t0001g0056
a0001c0001t0001g0056
 1 HG00323.hp1
HG00323.hp1
 intron_variant MODIFIER c.911-2183_911-1934d
others(2): Show 
c.911-2183_911-1934del
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 INFO_REALIGN_3_PRIME chrX 1640610
chrX:1640618
GAGATAGG
others(1060): Show 
GAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATG
ATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTC
CCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGC
ACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGT
CCACCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGT
GATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCATCCTGATGGCA
CATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCA
GCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATGAGGATGTGGACAC
AGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGGTCCA
TCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGAT
AGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCA
TGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGT
GTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGC
CTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACC
CATCCTGATGATCCATTAGGATGTGGACACAGCCTCTGTGTGTGTGATAG
GGACCATGTCCCAGTGTCCTGTGAGGTCCACCTATCCTGATGGTCCATGA
GGATGTGGACACAGCCGCTCTGTGTGTGATGGGGACAGTGTCCCAGCTCT
CCTGTGAGGTCCATCCATCCTGATGGTTCATGGGGACGTGAGCACAGCCT
CTGTGTGTGTGTTGGGGACAGTGTCCCAGTTCTCCTGTGAGGTCCACCCA
TCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGTGATGGGG
ACAGTGTCCCAGTGTCCTGTGAGGTCCACCCATCCTGGTGGTCCATGAGT
ACATGGACACAGCCTCTC
 G
G
 2 a0001c0001t0002g0134
a0001c0001t0003g0090
a0001c0001t0002g0134
a0001c0001t0003g0090
 2 HG02615.hp1
HG02818.hp2
HG02615.hp1
HG02818.hp2
 intron_variant MODIFIER c.911-2184_911-1118d
others(2): Show 
c.911-2184_911-1118del
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1640618
chrX:1640619
A
A
 T
T
 3 a0001c0001t0002g0039
a0001c0003t0002g0133
a0003c0009t0001g0011
a0001c0001t0002g0039
a0001c0003t0002g0133
a0003c0009t0001g0011
 3 HG02165.hp1
HG03486.hp2
NA19030.hp2
HG02165.hp1
HG03486.hp2
NA19030.hp2
 intron_variant MODIFIER c.911-2184A>T
c.911-2184A>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1640619
chrX:1640623
A
A
 G
G
 3 a0001c0001t0002g0039
a0001c0003t0002g0133
a0003c0009t0001g0011
a0001c0001t0002g0039
a0001c0003t0002g0133
a0003c0009t0001g0011
 3 HG02165.hp1
HG03486.hp2
NA19030.hp2
HG02165.hp1
HG03486.hp2
NA19030.hp2
 intron_variant MODIFIER c.911-2180A>G
c.911-2180A>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1640623
chrX:1640624
G
G
 A
A
 2 a0001c0001t0001g0006
a0001c0001t0001g0083
a0001c0001t0001g0006
a0001c0001t0001g0083
 2 HG02257.hp2
HG03540.hp1
HG02257.hp2
HG03540.hp1
 intron_variant MODIFIER c.911-2179G>A
c.911-2179G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1640624
chrX:1640629
C
C
 A
A
 2 a0001c0003t0002g0133
a0003c0009t0001g0011
a0001c0003t0002g0133
a0003c0009t0001g0011
 2 HG03486.hp2
NA19030.hp2
HG03486.hp2
NA19030.hp2
 intron_variant MODIFIER c.911-2174C>A
c.911-2174C>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1640629
chrX:1640629
C
C
 T
T
 2 a0001c0001t0001g0006
a0001c0001t0001g0083
a0001c0001t0001g0006
a0001c0001t0001g0083
 2 HG02257.hp2
HG03540.hp1
HG02257.hp2
HG03540.hp1
 intron_variant MODIFIER c.911-2174C>T
c.911-2174C>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1640629
chrX:1640630
A
A
 G
G
 4 a0001c0001t0001g0006
a0001c0001t0001g0083
a0001c0003t0002g0133
others(1): Show 
a0001c0001t0001g0006
a0001c0001t0001g0083
a0001c0003t0002g0133
a0003c0009t0001g0011
 4 HG02257.hp2
HG03486.hp2
HG03540.hp1
others(1): Show 
HG02257.hp2
HG03486.hp2
HG03540.hp1
NA19030.hp2
 intron_variant MODIFIER c.911-2173A>G
c.911-2173A>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1640630
chrX:1640638
GC
GC
 G
G
 2 a0001c0003t0002g0133
a0003c0009t0001g0011
a0001c0003t0002g0133
a0003c0009t0001g0011
 2 HG03486.hp2
NA19030.hp2
HG03486.hp2
NA19030.hp2
 intron_variant MODIFIER c.911-2164delC
c.911-2164delC
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1640638
chrX:1640641
C
C
 G
G
 2 a0001c0003t0002g0133
a0003c0009t0001g0011
a0001c0003t0002g0133
a0003c0009t0001g0011
 2 HG03486.hp2
NA19030.hp2
HG03486.hp2
NA19030.hp2
 intron_variant MODIFIER c.911-2162C>G
c.911-2162C>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1640641
chrX:1640656
T
T
 C
C
 50 a0001c0001t0001g0001
a0001c0001t0001g0006
a0001c0001t0001g0024
others(47): Show 
a0001c0001t0001g0001
a0001c0001t0001g0006
a0001c0001t0001g0024
a0001c0001t0001g0041
a0001c0001t0001g0065
a0001c0001t0001g0076
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0086
a0001c0001t0001g0100
a0001c0001t0001g0102
a0001c0001t0001g0103
a0001c0001t0001g0121
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0002g0039
a0001c0001t0002g0135
a0001c0001t0002g0147
a0001c0001t0002g0157
a0001c0001t0002g0168
a0001c0001t0002g0184
a0001c0001t0002g0195
a0001c0001t0002g0196
a0001c0001t0002g0218
a0001c0003t0001g0070
a0001c0003t0001g0080
a0001c0003t0001g0092
a0001c0003t0001g0115
a0001c0003t0001g0193
a0001c0003t0001g0219
a0001c0003t0002g0150
a0001c0003t0002g0155
a0001c0003t0002g0177
a0001c0003t0002g0182
a0002c0002t0001g0026
a0002c0002t0001g0057
a0002c0002t0001g0073
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0119
a0002c0002t0001g0124
a0002c0002t0002g0160
a0002c0002t0002g0166
a0002c0002t0002g0172
a0002c0002t0002g0178
a0002c0002t0002g0181
a0002c0002t0002g0216
a0002c0006t0001g0187
a0004c0004t0004g0148
a0008c0013t0001g0101
 51 HG00099.hp2
HG00544.hp2
HG00639.hp1
others(48): Show 
HG00099.hp2
HG00544.hp2
HG00639.hp1
HG00735.hp1
HG00735.hp2
HG00741.hp1
HG01123.hp1
HG01168.hp2
HG01361.hp1
HG01361.hp2
HG01516.hp1
HG01517.hp1
HG01884.hp2
HG01934.hp1
HG01978.hp2
HG02080.hp1
HG02165.hp1
HG02257.hp2
HG02273.hp2
HG02280.hp2
HG02559.hp1
HG02615.hp2
HG03041.hp2
HG03516.hp2
HG03540.hp1
HG03704.hp2
HG03831.hp1
HG03831.hp2
NA18939.hp1
NA18941.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp2
NA18954.hp1
NA18956.hp2
NA18973.hp1
NA18977.hp2
NA18985.hp1
NA18992.hp2
NA19002.hp1
NA19003.hp1
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19057.hp1
NA19065.hp1
NA19074.hp2
NA19081.hp2
NA19240.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.911-2147T>C
c.911-2147T>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1640656
chrX:1640657
C
C
 G
G
 2 a0001c0003t0002g0133
a0003c0009t0001g0011
a0001c0003t0002g0133
a0003c0009t0001g0011
 2 HG03486.hp2
NA19030.hp2
HG03486.hp2
NA19030.hp2
 intron_variant MODIFIER c.911-2146C>G
c.911-2146C>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1640657
chrX:1640668
A
A
 C
C
 4 a0001c0001t0001g0006
a0001c0001t0001g0083
a0001c0001t0002g0135
others(1): Show 
a0001c0001t0001g0006
a0001c0001t0001g0083
a0001c0001t0002g0135
a0001c0001t0002g0218
 4 HG00741.hp1
HG02257.hp2
HG02615.hp2
others(1): Show 
HG00741.hp1
HG02257.hp2
HG02615.hp2
HG03540.hp1
 intron_variant MODIFIER c.911-2135A>C
c.911-2135A>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1640668
chrX:1640668
A
A
 G
G
 3 a0001c0001t0001g0001
a0001c0003t0002g0133
a0003c0009t0001g0011
a0001c0001t0001g0001
a0001c0003t0002g0133
a0003c0009t0001g0011
 4 HG02559.hp1
HG03486.hp2
NA19030.hp2
others(1): Show 
HG02559.hp1
HG03486.hp2
NA19030.hp2
NA19240.hp1
 intron_variant MODIFIER c.911-2135A>G
c.911-2135A>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1640668
chrX:1640670
C
C
 T
T
 4 a0001c0001t0001g0006
a0001c0001t0001g0083
a0001c0001t0002g0135
others(1): Show 
a0001c0001t0001g0006
a0001c0001t0001g0083
a0001c0001t0002g0135
a0001c0001t0002g0218
 4 HG00741.hp1
HG02257.hp2
HG02615.hp2
others(1): Show 
HG00741.hp1
HG02257.hp2
HG02615.hp2
HG03540.hp1
 intron_variant MODIFIER c.911-2133C>T
c.911-2133C>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1640670
chrX:1640673
T
T
 C
C
 2 a0001c0001t0001g0006
a0001c0001t0002g0135
a0001c0001t0001g0006
a0001c0001t0002g0135
 2 HG02615.hp2
HG03540.hp1
HG02615.hp2
HG03540.hp1
 intron_variant MODIFIER c.911-2130T>C
c.911-2130T>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1640673
chrX:1640674
G
G
 T
T
 4 a0001c0001t0001g0041
a0001c0001t0002g0195
a0001c0003t0001g0070
others(1): Show 
a0001c0001t0001g0041
a0001c0001t0002g0195
a0001c0003t0001g0070
a0002c0002t0001g0073
 4 HG01884.hp2
HG03704.hp2
NA18973.hp1
others(1): Show 
HG01884.hp2
HG03704.hp2
NA18973.hp1
NA19003.hp1
 intron_variant MODIFIER c.911-2129G>T
c.911-2129G>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1640674
chrX:1640679
T
T
 C
C
 9 a0001c0001t0001g0001
a0001c0001t0001g0006
a0001c0001t0001g0083
others(6): Show 
a0001c0001t0001g0001
a0001c0001t0001g0006
a0001c0001t0001g0083
a0001c0001t0002g0135
a0001c0003t0002g0133
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0124
a0003c0009t0001g0011
 10 HG01361.hp1
HG01516.hp1
HG01517.hp1
others(7): Show 
HG01361.hp1
HG01516.hp1
HG01517.hp1
HG02257.hp2
HG02559.hp1
HG02615.hp2
HG03486.hp2
HG03540.hp1
NA19030.hp2
NA19240.hp1
 intron_variant MODIFIER c.911-2124T>C
c.911-2124T>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1640679
chrX:1640680
G
G
 A
A
 2 a0001c0003t0002g0133
a0003c0009t0001g0011
a0001c0003t0002g0133
a0003c0009t0001g0011
 2 HG03486.hp2
NA19030.hp2
HG03486.hp2
NA19030.hp2
 intron_variant MODIFIER c.911-2123G>A
c.911-2123G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1640680
chrX:1640684
A
A
 G
G
 10 a0001c0001t0001g0006
a0001c0001t0001g0065
a0001c0001t0001g0083
others(7): Show 
a0001c0001t0001g0006
a0001c0001t0001g0065
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0086
a0001c0001t0002g0135
a0001c0001t0002g0147
a0001c0001t0002g0218
a0001c0003t0002g0133
a0003c0009t0001g0011
 10 HG00741.hp1
HG02257.hp2
HG02615.hp2
others(7): Show 
HG00741.hp1
HG02257.hp2
HG02615.hp2
HG03486.hp2
HG03540.hp1
NA18950.hp1
NA18954.hp1
NA19011.hp1
NA19030.hp2
NA19081.hp2
 intron_variant MODIFIER c.911-2119A>G
c.911-2119A>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1640684
chrX:1640689
G
G
 A
A
 2 a0001c0003t0002g0133
a0003c0009t0001g0011
a0001c0003t0002g0133
a0003c0009t0001g0011
 2 HG03486.hp2
NA19030.hp2
HG03486.hp2
NA19030.hp2
 intron_variant MODIFIER c.911-2114G>A
c.911-2114G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1640689
chrX:1640692
T
T
 G
G
 3 a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0124
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0124
 3 HG01361.hp1
HG01516.hp1
HG01517.hp1
HG01361.hp1
HG01516.hp1
HG01517.hp1
 intron_variant MODIFIER c.911-2111T>G
c.911-2111T>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1640692
chrX:1640693
CTG
CTG
 C
C
 2 a0001c0001t0001g0006
a0001c0001t0002g0135
a0001c0001t0001g0006
a0001c0001t0002g0135
 2 HG02615.hp2
HG03540.hp1
HG02615.hp2
HG03540.hp1
 intron_variant MODIFIER c.911-2101_911-2100d
others(4): Show 
c.911-2101_911-2100delTG
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 INFO_REALIGN_3_PRIME chrX 1640693
chrX:1640693
CTGTGTGT
others(160): Show 
CTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCT
CCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGA
CCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATGAGG
ATGTGGACACAGCCTCTG
 C
C
 1 a0001c0001t0002g0218
a0001c0001t0002g0218
 1 HG00741.hp1
HG00741.hp1
 intron_variant MODIFIER c.911-2101_911-1935d
others(2): Show 
c.911-2101_911-1935del
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 INFO_REALIGN_3_PRIME chrX 1640693
chrX:1640693
CTGTGTGT
others(490): Show 
CTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCT
CCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGA
CCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATGAGG
ATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCT
GTGAGATCCATCCATCCTGATGGCACATGAGGATGTGGGCACAGCCTCTG
TGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCC
TGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACA
GTGTCCCAGTGTCCTGTGAGGTCCATCCCTCCTGATGGTTCATGAGGATG
TGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGT
GAGGTCCACCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTG
 C
C
 1 a0001c0001t0001g0083
a0001c0001t0001g0083
 1 HG02257.hp2
HG02257.hp2
 intron_variant MODIFIER c.911-2101_911-1605d
others(2): Show 
c.911-2101_911-1605del
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 INFO_REALIGN_3_PRIME chrX 1640693
chrX:1640695
G
G
 C
C
 3 a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0124
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0124
 3 HG01361.hp1
HG01516.hp1
HG01517.hp1
HG01361.hp1
HG01516.hp1
HG01517.hp1
 intron_variant MODIFIER c.911-2108G>C
c.911-2108G>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1640695
chrX:1640701
G
G
 A
A
 5 a0001c0001t0001g0006
a0001c0001t0002g0135
a0001c0003t0001g0062
others(2): Show 
a0001c0001t0001g0006
a0001c0001t0002g0135
a0001c0003t0001g0062
a0001c0003t0002g0133
a0003c0009t0001g0011
 5 HG01975.hp1
HG02615.hp2
HG03486.hp2
others(2): Show 
HG01975.hp1
HG02615.hp2
HG03486.hp2
HG03540.hp1
NA19030.hp2
 intron_variant MODIFIER c.911-2102G>A
c.911-2102G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1640701
chrX:1640702
TGATGGGG
others(405): Show 
TGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGT
TCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCC
AGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATGAGGATGTGGACA
CAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCC
ATCCATCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGA
TAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCC
ATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAG
TGTCCTGTGAGGTCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAG
CCTCTGTGTGTGA
 T
T
 1 a0001c0001t0002g0195
a0001c0001t0002g0195
 1 HG03704.hp2
HG03704.hp2
 intron_variant MODIFIER c.911-2097_911-1686d
others(2): Show 
c.911-2097_911-1686del
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 INFO_REALIGN_3_PRIME chrX 1640702
chrX:1640703
G
G
 A
A
 2 a0001c0003t0002g0133
a0003c0009t0001g0011
a0001c0003t0002g0133
a0003c0009t0001g0011
 2 HG03486.hp2
NA19030.hp2
HG03486.hp2
NA19030.hp2
 intron_variant MODIFIER c.911-2100G>A
c.911-2100G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1640703
chrX:1640712
A
A
 G
G
 1 a0001c0001t0005g0165
a0001c0001t0005g0165
 1 HG02273.hp1
HG02273.hp1
 intron_variant MODIFIER c.911-2091A>G
c.911-2091A>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1640712
chrX:1640713
GTGTCCCA
others(653): Show 
GTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATG
TGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGT
GAGGTCCACCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTG
TGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCATCCTGA
TGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATG
TCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATGAGGATGTG
GACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAG
GTCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGT
GAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATG
ATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTC
CCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGC
ACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGT
CCACCCATCCTGATGATCCATTAGGATGTGGACACAGCCTCTGTGTGTGT
GATAGGGACCA
 G
G
 12 a0001c0001t0001g0024
a0001c0001t0001g0041
a0001c0001t0001g0065
others(9): Show 
a0001c0001t0001g0024
a0001c0001t0001g0041
a0001c0001t0001g0065
a0001c0001t0001g0100
a0001c0001t0001g0102
a0001c0001t0001g0103
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0002g0039
a0001c0001t0002g0147
a0001c0003t0001g0092
a0008c0013t0001g0101
 12 HG02165.hp1
HG03831.hp1
NA18939.hp1
others(9): Show 
HG02165.hp1
HG03831.hp1
NA18939.hp1
NA18951.hp2
NA18954.hp1
NA18956.hp2
NA18973.hp1
NA18992.hp2
NA19002.hp1
NA19010.hp1
NA19011.hp1
NA19074.hp2
 intron_variant MODIFIER c.911-2070_911-1411d
others(2): Show 
c.911-2070_911-1411del
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 INFO_REALIGN_3_PRIME chrX 1640713
chrX:1640721
G
G
 GT
GT
 1 a0001c0001t0005g0165
a0001c0001t0005g0165
 1 HG02273.hp1
HG02273.hp1
 intron_variant MODIFIER c.911-2081dupT
c.911-2081dupT
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 INFO_REALIGN_3_PRIME chrX 1640721
chrX:1640723
G
G
 C
C
 1 a0001c0001t0005g0165
a0001c0001t0005g0165
 1 HG02273.hp1
HG02273.hp1
 intron_variant MODIFIER c.911-2080G>C
c.911-2080G>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1640723
chrX:1640723
GTCCTGTG
others(76): Show 
GTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGC
CTCTGTGTGTGAGATAGGGACCATGTCCCAGCTC
 G
G
 3 a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0124
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0124
 3 HG01361.hp1
HG01516.hp1
HG01517.hp1
HG01361.hp1
HG01516.hp1
HG01517.hp1
 intron_variant MODIFIER c.911-2070_911-1988d
others(85): Show 
c.911-2070_911-1988delATCCATCCCTCCTGATGGTTCATGAGGA
TGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCT
GTGAG
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 INFO_REALIGN_3_PRIME chrX 1640723
chrX:1640723
GTCCTGTG
others(241): Show 
GTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGC
CTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACC
CATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGG
GGACAGTGTCCCAGTGTCCTGTGAGATCCATCCATCCTGATGGCACATGA
GGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTC
 G
G
 3 a0001c0001t0001g0084
a0001c0001t0001g0086
a0002c0002t0002g0160
a0001c0001t0001g0084
a0001c0001t0001g0086
a0002c0002t0002g0160
 3 HG03516.hp2
NA18950.hp1
NA19081.hp2
HG03516.hp2
NA18950.hp1
NA19081.hp2
 intron_variant MODIFIER c.911-2070_911-1823d
others(2): Show 
c.911-2070_911-1823del
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 INFO_REALIGN_3_PRIME chrX 1640723
chrX:1640733
A
A
 G
G
 23 a0001c0001t0001g0001
a0001c0001t0001g0121
a0001c0001t0002g0184
others(20): Show 
a0001c0001t0001g0001
a0001c0001t0001g0121
a0001c0001t0002g0184
a0001c0001t0005g0165
a0001c0003t0001g0062
a0001c0003t0001g0070
a0001c0003t0001g0080
a0001c0003t0001g0115
a0001c0003t0001g0193
a0001c0003t0001g0219
a0001c0003t0002g0133
a0001c0003t0002g0150
a0001c0003t0002g0155
a0001c0003t0002g0177
a0001c0003t0002g0182
a0002c0002t0001g0026
a0002c0002t0001g0073
a0002c0002t0001g0119
a0002c0002t0002g0166
a0002c0002t0002g0172
a0002c0002t0002g0178
a0002c0006t0001g0187
a0003c0009t0001g0011
 24 HG00544.hp2
HG01168.hp2
HG01884.hp2
others(21): Show 
HG00544.hp2
HG01168.hp2
HG01884.hp2
HG01934.hp1
HG01975.hp1
HG01978.hp2
HG02080.hp1
HG02273.hp1
HG02273.hp2
HG02280.hp2
HG02559.hp1
HG03041.hp2
HG03486.hp2
NA18941.hp2
NA18950.hp2
NA18977.hp2
NA18985.hp1
NA19003.hp1
NA19010.hp2
NA19011.hp2
NA19030.hp2
NA19057.hp1
NA19065.hp1
NA19240.hp1
 intron_variant MODIFIER c.911-2070A>G
c.911-2070A>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1640733
chrX:1640738
T
T
 C
C
 3 a0001c0001t0005g0165
a0001c0003t0002g0133
a0003c0009t0001g0011
a0001c0001t0005g0165
a0001c0003t0002g0133
a0003c0009t0001g0011
 3 HG02273.hp1
HG03486.hp2
NA19030.hp2
HG02273.hp1
HG03486.hp2
NA19030.hp2
 intron_variant MODIFIER c.911-2065T>C
c.911-2065T>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1640738
chrX:1640741
C
C
 A
A
 5 a0001c0001t0002g0157
a0001c0001t0005g0165
a0001c0003t0002g0133
others(2): Show 
a0001c0001t0002g0157
a0001c0001t0005g0165
a0001c0003t0002g0133
a0001c0003t0002g0155
a0003c0009t0001g0011
 5 HG00735.hp2
HG02273.hp1
HG03486.hp2
others(2): Show 
HG00735.hp2
HG02273.hp1
HG03486.hp2
NA18977.hp2
NA19030.hp2
 intron_variant MODIFIER c.911-2062C>A
c.911-2062C>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1640741
chrX:1640751
T
T
 C
C
 3 a0001c0001t0002g0157
a0001c0003t0002g0155
a0002c0006t0001g0187
a0001c0001t0002g0157
a0001c0003t0002g0155
a0002c0006t0001g0187
 3 HG00544.hp2
HG00735.hp2
NA18977.hp2
HG00544.hp2
HG00735.hp2
NA18977.hp2
 intron_variant MODIFIER c.911-2052T>C
c.911-2052T>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1640751
chrX:1640752
T
T
 A
A
 3 a0001c0001t0002g0157
a0001c0003t0002g0155
a0002c0006t0001g0187
a0001c0001t0002g0157
a0001c0003t0002g0155
a0002c0006t0001g0187
 3 HG00544.hp2
HG00735.hp2
NA18977.hp2
HG00544.hp2
HG00735.hp2
NA18977.hp2
 intron_variant MODIFIER c.911-2051T>A
c.911-2051T>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1640752
chrX:1640752
T
T
 C
C
 1 a0001c0001t0005g0165
a0001c0001t0005g0165
 1 HG02273.hp1
HG02273.hp1
 intron_variant MODIFIER c.911-2051T>C
c.911-2051T>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1640752
chrX:1640752
TCATGAGG
others(158): Show 
TCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCC
AGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATGAGGATGTGGACA
CAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCC
ATCCATCCTGATGGCA
 T
T
 2 a0001c0001t0001g0006
a0001c0001t0002g0135
a0001c0001t0001g0006
a0001c0001t0002g0135
 2 HG02615.hp2
HG03540.hp1
HG02615.hp2
HG03540.hp1
 intron_variant MODIFIER c.911-1905_911-1741d
others(2): Show 
c.911-1905_911-1741del
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 INFO_REALIGN_3_PRIME chrX 1640752
chrX:1640756
GAGGATGT
others(571): Show 
GAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCT
CTCCTGTGAGGTCCACCCATCCTGATGATCCATGAGGATGTGGACACAGC
CTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCC
ATCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGG
GACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATGA
GGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTC
CTGTGAGGTCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTC
TGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCAT
CCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGA
CAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGA
TGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCT
GTGAGGTCCACCCATCCTGATGATCCATT
 G
G
 1 a0001c0001t0002g0157
a0001c0001t0002g0157
 1 HG00735.hp2
HG00735.hp2
 intron_variant MODIFIER c.911-2037_911-1460d
others(2): Show 
c.911-2037_911-1460del
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 INFO_REALIGN_3_PRIME chrX 1640756
chrX:1640761
T
T
 C
C
 3 a0001c0001t0005g0165
a0001c0003t0002g0133
a0003c0009t0001g0011
a0001c0001t0005g0165
a0001c0003t0002g0133
a0003c0009t0001g0011
 3 HG02273.hp1
HG03486.hp2
NA19030.hp2
HG02273.hp1
HG03486.hp2
NA19030.hp2
 intron_variant MODIFIER c.911-2042T>C
c.911-2042T>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1640761
chrX:1640762
G
G
 A
A
 1 a0001c0001t0005g0165
a0001c0001t0005g0165
 1 HG02273.hp1
HG02273.hp1
 intron_variant MODIFIER c.911-2041G>A
c.911-2041G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1640762
chrX:1640766
GCACAGCC
others(241): Show 
GCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAG
GTCCACCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGT
GTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCATCCTGATGG
CACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCC
CAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATGAGGATGTGGA
 G
G
 1 a0001c0001t0001g0001
a0001c0001t0001g0001
 2 HG02559.hp1
NA19240.hp1
HG02559.hp1
NA19240.hp1
 intron_variant MODIFIER c.911-2019_911-1772d
others(2): Show 
c.911-2019_911-1772del
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 INFO_REALIGN_3_PRIME chrX 1640766
chrX:1640766
GCACAGCC
others(571): Show 
GCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAG
GTCCACCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGT
GTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCATCCTGATGG
CACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCC
CAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATGAGGATGTGGAC
ACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGGTC
CATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAG
ATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATC
CATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCA
GTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACA
GCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCA
CCCATCCTGATGATCCATTAGGATGTGGA
 G
G
 1 a0002c0002t0001g0057
a0002c0002t0001g0057
 1 HG01361.hp2
HG01361.hp2
 intron_variant MODIFIER c.911-2019_911-1442d
others(2): Show 
c.911-2019_911-1442del
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 INFO_REALIGN_3_PRIME chrX 1640766
chrX:1640766
GCACAGCC
others(901): Show 
GCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAG
GTCCACCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGT
GTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCATCCTGATGG
CACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCC
CAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATGAGGATGTGGAC
ACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGGTC
CATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAG
ATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATC
CATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCA
GTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACA
GCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCA
CCCATCCTGATGATCCATTAGGATGTGGACACAGCCTCTGTGTGTGTGAT
AGGGACCATGTCCCAGTGTCCTGTGAGGTCCACCTATCCTGATGGTCCAT
GAGGATGTGGACACAGCCGCTCTGTGTGTGATGGGGACAGTGTCCCAGCT
CTCCTGTGAGGTCCATCCATCCTGATGGTTCATGGGGACGTGAGCACAGC
CTCTGTGTGTGTGTTGGGGACAGTGTCCCAGTTCTCCTGTGAGGTCCACC
CATCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGTGATGG
GGACAGTGTCCCAGTGTCCTGTGAGGTCCACCCATCCTGGTGGTCCATGA
GTACATGGA
 G
G
 1 a0002c0002t0001g0119
a0002c0002t0001g0119
 1 HG01168.hp2
HG01168.hp2
 intron_variant MODIFIER c.911-2026_911-1119d
others(2): Show 
c.911-2026_911-1119del
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 INFO_REALIGN_3_PRIME chrX 1640766
chrX:1640768
A
A
 T
T
 2 a0001c0003t0002g0133
a0003c0009t0001g0011
a0001c0003t0002g0133
a0003c0009t0001g0011
 2 HG03486.hp2
NA19030.hp2
HG03486.hp2
NA19030.hp2
 intron_variant MODIFIER c.911-2035A>T
c.911-2035A>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1640768
chrX:1640772
C
C
 CCT
CCT
 1 a0001c0001t0005g0165
a0001c0001t0005g0165
 1 HG02273.hp1
HG02273.hp1
 intron_variant MODIFIER c.911-2028_911-2027d
others(4): Show 
c.911-2028_911-2027dupCT
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 INFO_REALIGN_3_PRIME chrX 1640772
chrX:1640775
CTGTGTGT
others(78): Show 
CTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCA
TCCTGATGATCCATGAGGATGTGGACACAGCCTCTG
 C
C
 2 a0001c0003t0002g0133
a0003c0009t0001g0011
a0001c0003t0002g0133
a0003c0009t0001g0011
 2 HG03486.hp2
NA19030.hp2
HG03486.hp2
NA19030.hp2
 intron_variant MODIFIER c.911-2018_911-1934d
others(87): Show 
c.911-2018_911-1934delGATAGGGACCATGTCCCAGCTCTCCTGT
GAGGTCCACCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTG
TGTGTGA
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 INFO_REALIGN_3_PRIME chrX 1640775
chrX:1640775
CTGTGTGT
others(243): Show 
CTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCA
TCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGG
ACAGTGTCCCAGTGTCCTGTGAGATCCATCCATCCTGATGGCACATGAGG
ATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCC
TGTGAGGTCCACCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCT
G
 C
C
 1 a0001c0003t0001g0062
a0001c0003t0001g0062
 1 HG01975.hp1
HG01975.hp1
 intron_variant MODIFIER c.911-2018_911-1769d
others(2): Show 
c.911-2018_911-1769del
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 INFO_REALIGN_3_PRIME chrX 1640775
chrX:1640784
AGATAGGG
others(571): Show 
AGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGA
TCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCC
CAGTGTCCTGTGAGATCCATCCATCCTGATGGCACATGAGGATGTGGGCA
CAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTC
CACCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTG
ATGGGGACAGTGTCCCAGTGTCCTGTGAGGTCCATCCCTCCTGATGGTTC
ATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAG
CTCTCCTGTGAGGTCCACCCATCCTGATGATCCATGAGGATGTGGACACA
GCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCAT
CCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATA
GGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCAT
TAGGATGTGGACACAGCCTCTGTGTGTGT
 A
A
 1 a0001c0001t0002g0168
a0001c0001t0002g0168
 1 HG00639.hp1
HG00639.hp1
 intron_variant MODIFIER c.911-1999_911-1422d
others(2): Show 
c.911-1999_911-1422del
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 INFO_REALIGN_3_PRIME chrX 1640784
chrX:1640789
G
G
 A
A
 1 a0001c0001t0002g0201
a0001c0001t0002g0201
 1 HG01496.hp1
HG01496.hp1
 intron_variant MODIFIER c.911-2014G>A
c.911-2014G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1640789
chrX:1640794
C
C
 T
T
 1 a0001c0001t0002g0201
a0001c0001t0002g0201
 1 HG01496.hp1
HG01496.hp1
 intron_variant MODIFIER c.911-2009C>T
c.911-2009C>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1640794
chrX:1640795
A
A
 G
G
 1 a0001c0001t0002g0201
a0001c0001t0002g0201
 1 HG01496.hp1
HG01496.hp1
 intron_variant MODIFIER c.911-2008A>G
c.911-2008A>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1640795
chrX:1640799
C
C
 T
T
 1 a0002c0002t0002g0199
a0002c0002t0002g0199
 1 HG01516.hp2
HG01516.hp2
 intron_variant MODIFIER c.911-2004C>T
c.911-2004C>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1640799
chrX:1640803
GC
GC
 G
G
 4 a0001c0001t0001g0121
a0001c0001t0002g0184
a0001c0003t0001g0070
others(1): Show 
a0001c0001t0001g0121
a0001c0001t0002g0184
a0001c0003t0001g0070
a0002c0002t0001g0020
 4 HG01884.hp2
HG02280.hp1
HG02280.hp2
others(1): Show 
HG01884.hp2
HG02280.hp1
HG02280.hp2
HG03041.hp2
 intron_variant MODIFIER c.911-1999delC
c.911-1999delC
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1640803
chrX:1640806
C
C
 G
G
 4 a0001c0001t0001g0121
a0001c0001t0002g0184
a0001c0003t0001g0070
others(1): Show 
a0001c0001t0001g0121
a0001c0001t0002g0184
a0001c0003t0001g0070
a0002c0002t0001g0020
 4 HG01884.hp2
HG02280.hp1
HG02280.hp2
others(1): Show 
HG01884.hp2
HG02280.hp1
HG02280.hp2
HG03041.hp2
 intron_variant MODIFIER c.911-1997C>G
c.911-1997C>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1640806
chrX:1640821
C
C
 T
T
 1 a0001c0001t0002g0201
a0001c0001t0002g0201
 1 HG01496.hp1
HG01496.hp1
 intron_variant MODIFIER c.911-1982C>T
c.911-1982C>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1640821
chrX:1640823
C
C
 T
T
 8 a0001c0001t0001g0005
a0001c0001t0001g0121
a0001c0001t0002g0184
others(5): Show 
a0001c0001t0001g0005
a0001c0001t0001g0121
a0001c0001t0002g0184
a0001c0003t0001g0070
a0002c0002t0001g0020
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0124
 8 HG01361.hp1
HG01516.hp1
HG01517.hp1
others(5): Show 
HG01361.hp1
HG01516.hp1
HG01517.hp1
HG01884.hp2
HG02280.hp1
HG02280.hp2
HG03041.hp2
NA18980.hp2
 intron_variant MODIFIER c.911-1980C>T
c.911-1980C>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1640823
chrX:1640833
A
A
 C
C
 5 a0001c0001t0001g0076
a0001c0001t0002g0196
a0002c0002t0002g0181
others(2): Show 
a0001c0001t0001g0076
a0001c0001t0002g0196
a0002c0002t0002g0181
a0002c0002t0002g0216
a0004c0004t0004g0148
 5 HG00099.hp2
HG00735.hp1
HG01123.hp1
others(2): Show 
HG00099.hp2
HG00735.hp1
HG01123.hp1
HG03831.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.911-1970A>C
c.911-1970A>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1640833
chrX:1640833
A
A
 G
G
 10 a0001c0001t0001g0005
a0001c0001t0001g0121
a0001c0001t0002g0184
others(7): Show 
a0001c0001t0001g0005
a0001c0001t0001g0121
a0001c0001t0002g0184
a0001c0001t0002g0200
a0001c0003t0001g0070
a0001c0003t0002g0150
a0002c0002t0001g0020
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0124
 10 HG01361.hp1
HG01516.hp1
HG01517.hp1
others(7): Show 
HG01361.hp1
HG01516.hp1
HG01517.hp1
HG01884.hp2
HG01993.hp2
HG02280.hp1
HG02280.hp2
HG03041.hp2
NA18980.hp2
NA19010.hp2
 intron_variant MODIFIER c.911-1970A>G
c.911-1970A>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1640833
chrX:1640834
T
T
 C
C
 1 a0001c0001t0002g0200
a0001c0001t0002g0200
 1 HG01993.hp2
HG01993.hp2
 intron_variant MODIFIER c.911-1969T>C
c.911-1969T>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1640834
chrX:1640835
C
C
 A
A
 1 a0001c0001t0002g0200
a0001c0001t0002g0200
 1 HG01993.hp2
HG01993.hp2
 intron_variant MODIFIER c.911-1968C>A
c.911-1968C>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1640835
chrX:1640835
C
C
 T
T
 6 a0001c0001t0001g0076
a0001c0001t0002g0196
a0001c0003t0002g0150
others(3): Show 
a0001c0001t0001g0076
a0001c0001t0002g0196
a0001c0003t0002g0150
a0002c0002t0002g0181
a0002c0002t0002g0216
a0004c0004t0004g0148
 6 HG00099.hp2
HG00735.hp1
HG01123.hp1
others(3): Show 
HG00099.hp2
HG00735.hp1
HG01123.hp1
HG03831.hp2
NA19010.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.911-1968C>T
c.911-1968C>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1640835
chrX:1640839
G
G
 T
T
 3 a0001c0003t0001g0080
a0001c0003t0002g0155
a0002c0002t0001g0073
a0001c0003t0001g0080
a0001c0003t0002g0155
a0002c0002t0001g0073
 3 NA18977.hp2
NA19003.hp1
NA19065.hp1
NA18977.hp2
NA19003.hp1
NA19065.hp1
 intron_variant MODIFIER c.911-1964G>T
c.911-1964G>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1640839
chrX:1640844
T
T
 C
C
 14 a0001c0001t0001g0005
a0001c0001t0001g0076
a0001c0001t0001g0121
others(11): Show 
a0001c0001t0001g0005
a0001c0001t0001g0076
a0001c0001t0001g0121
a0001c0001t0002g0184
a0001c0001t0002g0196
a0001c0003t0001g0070
a0002c0002t0001g0020
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0124
a0002c0002t0002g0181
a0002c0002t0002g0216
a0002c0006t0001g0187
a0004c0004t0004g0148
 14 HG00099.hp2
HG00544.hp2
HG00735.hp1
others(11): Show 
HG00099.hp2
HG00544.hp2
HG00735.hp1
HG01123.hp1
HG01361.hp1
HG01516.hp1
HG01517.hp1
HG01884.hp2
HG02280.hp1
HG02280.hp2
HG03041.hp2
HG03831.hp2
NA18980.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.911-1959T>C
c.911-1959T>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1640844
chrX:1640849
A
A
 G
G
 10 a0001c0001t0001g0076
a0001c0001t0002g0196
a0001c0001t0002g0200
others(7): Show 
a0001c0001t0001g0076
a0001c0001t0002g0196
a0001c0001t0002g0200
a0001c0003t0001g0080
a0001c0003t0002g0150
a0001c0003t0002g0155
a0001c0003t0002g0177
a0002c0002t0002g0181
a0002c0002t0002g0216
a0004c0004t0004g0148
 10 HG00099.hp2
HG00735.hp1
HG01123.hp1
others(7): Show 
HG00099.hp2
HG00735.hp1
HG01123.hp1
HG01934.hp1
HG01993.hp2
HG03831.hp2
NA18977.hp2
NA19010.hp2
NA19065.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.911-1954A>G
c.911-1954A>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1640849
chrX:1640857
T
T
 G
G
 8 a0001c0001t0001g0005
a0001c0001t0001g0121
a0001c0001t0002g0184
others(5): Show 
a0001c0001t0001g0005
a0001c0001t0001g0121
a0001c0001t0002g0184
a0001c0003t0001g0070
a0002c0002t0001g0020
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0124
 8 HG01361.hp1
HG01516.hp1
HG01517.hp1
others(5): Show 
HG01361.hp1
HG01516.hp1
HG01517.hp1
HG01884.hp2
HG02280.hp1
HG02280.hp2
HG03041.hp2
NA18980.hp2
 intron_variant MODIFIER c.911-1946T>G
c.911-1946T>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1640857
chrX:1640858
CTG
CTG
 C
C
 7 a0001c0001t0001g0076
a0001c0001t0002g0196
a0001c0001t0002g0200
others(4): Show 
a0001c0001t0001g0076
a0001c0001t0002g0196
a0001c0001t0002g0200
a0001c0003t0002g0150
a0002c0002t0002g0181
a0002c0002t0002g0216
a0004c0004t0004g0148
 7 HG00099.hp2
HG00735.hp1
HG01123.hp1
others(4): Show 
HG00099.hp2
HG00735.hp1
HG01123.hp1
HG01993.hp2
HG03831.hp2
NA19010.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.911-1936_911-1935d
others(4): Show 
c.911-1936_911-1935delTG
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 INFO_REALIGN_3_PRIME chrX 1640858
chrX:1640860
G
G
 C
C
 8 a0001c0001t0001g0005
a0001c0001t0001g0121
a0001c0001t0002g0184
others(5): Show 
a0001c0001t0001g0005
a0001c0001t0001g0121
a0001c0001t0002g0184
a0001c0003t0001g0070
a0002c0002t0001g0020
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0124
 8 HG01361.hp1
HG01516.hp1
HG01517.hp1
others(5): Show 
HG01361.hp1
HG01516.hp1
HG01517.hp1
HG01884.hp2
HG02280.hp1
HG02280.hp2
HG03041.hp2
NA18980.hp2
 intron_variant MODIFIER c.911-1943G>C
c.911-1943G>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1640860
chrX:1640866
G
G
 A
A
 15 a0001c0001t0001g0007
a0001c0001t0001g0056
a0001c0001t0001g0076
others(12): Show 
a0001c0001t0001g0007
a0001c0001t0001g0056
a0001c0001t0001g0076
a0001c0001t0002g0161
a0001c0001t0002g0196
a0001c0001t0002g0200
a0001c0001t0002g0201
a0001c0001t0002g0218
a0001c0003t0002g0150
a0002c0002t0001g0044
a0002c0002t0001g0069
a0002c0002t0001g0208
a0002c0002t0002g0181
a0002c0002t0002g0216
a0004c0004t0004g0148
 15 HG00099.hp2
HG00323.hp1
HG00735.hp1
others(12): Show 
HG00099.hp2
HG00323.hp1
HG00735.hp1
HG00741.hp1
HG01123.hp1
HG01256.hp1
HG01496.hp1
HG01891.hp1
HG01993.hp2
HG02109.hp1
HG02630.hp2
HG03831.hp2
NA19010.hp2
NA19057.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.911-1937G>A
c.911-1937G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1640866
chrX:1640867
T
T
 A
A
 1 a0002c0002t0002g0172
a0002c0002t0002g0172
 1 NA19057.hp1
NA19057.hp1
 intron_variant MODIFIER c.911-1936T>A
c.911-1936T>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1640867
chrX:1640868
G
G
 A
A
 2 a0001c0003t0002g0133
a0003c0009t0001g0011
a0001c0003t0002g0133
a0003c0009t0001g0011
 2 HG03486.hp2
NA19030.hp2
HG03486.hp2
NA19030.hp2
 intron_variant MODIFIER c.911-1935G>A
c.911-1935G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1640868
chrX:1640871
G
G
 A
A
 10 a0001c0001t0001g0007
a0001c0001t0001g0056
a0001c0001t0002g0161
others(7): Show 
a0001c0001t0001g0007
a0001c0001t0001g0056
a0001c0001t0002g0161
a0001c0001t0002g0201
a0002c0002t0001g0044
a0002c0002t0001g0069
a0002c0002t0001g0208
a0002c0002t0002g0172
a0002c0002t0002g0181
a0002c0002t0002g0216
 10 HG00099.hp2
HG00323.hp1
HG01256.hp1
others(7): Show 
HG00099.hp2
HG00323.hp1
HG01256.hp1
HG01496.hp1
HG01891.hp1
HG02109.hp1
HG02630.hp2
NA19057.hp1
NA19057.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.911-1932G>A
c.911-1932G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1640871
chrX:1640872
G
G
 A
A
 2 a0001c0003t0002g0133
a0003c0009t0001g0011
a0001c0003t0002g0133
a0003c0009t0001g0011
 2 HG03486.hp2
NA19030.hp2
HG03486.hp2
NA19030.hp2
 intron_variant MODIFIER c.911-1931G>A
c.911-1931G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1640872
chrX:1640877
A
A
 C
C
 1 a0002c0002t0002g0172
a0002c0002t0002g0172
 1 NA19057.hp1
NA19057.hp1
 intron_variant MODIFIER c.911-1926A>C
c.911-1926A>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1640877
chrX:1640878
G
G
 A
A
 1 a0002c0002t0002g0172
a0002c0002t0002g0172
 1 NA19057.hp1
NA19057.hp1
 intron_variant MODIFIER c.911-1925G>A
c.911-1925G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1640878
chrX:1640878
GTGTCCCA
others(488): Show 
GTGTCCCAGTGTCCTGTGAGATCCATCCATCCTGATGGCACATGAGGATG
TGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGT
GAGGTCCACCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTG
TGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGGTCCATCCCTCCTGA
TGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATG
TCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATGAGGATGTG
GACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAG
ATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGT
GAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATG
ATCCATTAGGATGTGGACACAGCCTCTGTGTGTGTGATAGGGACCA
 G
G
 10 a0001c0003t0001g0080
a0001c0003t0001g0115
a0001c0003t0001g0193
others(7): Show 
a0001c0003t0001g0080
a0001c0003t0001g0115
a0001c0003t0001g0193
a0001c0003t0001g0219
a0001c0003t0002g0155
a0001c0003t0002g0177
a0001c0003t0002g0182
a0002c0002t0001g0026
a0002c0002t0001g0073
a0002c0002t0002g0178
 10 HG01934.hp1
HG01978.hp2
HG02273.hp2
others(7): Show 
HG01934.hp1
HG01978.hp2
HG02273.hp2
NA18941.hp2
NA18950.hp2
NA18977.hp2
NA18985.hp1
NA19003.hp1
NA19011.hp2
NA19065.hp1
 intron_variant MODIFIER c.911-1905_911-1411d
others(2): Show 
c.911-1905_911-1411del
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 INFO_REALIGN_3_PRIME chrX 1640878
chrX:1640886
G
G
 GC
GC
 7 a0001c0001t0001g0121
a0001c0001t0002g0184
a0001c0003t0001g0070
others(4): Show 
a0001c0001t0001g0121
a0001c0001t0002g0184
a0001c0003t0001g0070
a0002c0002t0001g0020
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0124
 7 HG01361.hp1
HG01516.hp1
HG01517.hp1
others(4): Show 
HG01361.hp1
HG01516.hp1
HG01517.hp1
HG01884.hp2
HG02280.hp1
HG02280.hp2
HG03041.hp2
 intron_variant MODIFIER c.911-1917_911-1916i
others(3): Show 
c.911-1917_911-1916insC
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1640886
chrX:1640888
G
G
 C
C
 7 a0001c0001t0001g0121
a0001c0001t0002g0184
a0001c0003t0001g0070
others(4): Show 
a0001c0001t0001g0121
a0001c0001t0002g0184
a0001c0003t0001g0070
a0002c0002t0001g0020
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0124
 7 HG01361.hp1
HG01516.hp1
HG01517.hp1
others(4): Show 
HG01361.hp1
HG01516.hp1
HG01517.hp1
HG01884.hp2
HG02280.hp1
HG02280.hp2
HG03041.hp2
 intron_variant MODIFIER c.911-1915G>C
c.911-1915G>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1640888
chrX:1640888
GTCCTGTG
others(76): Show 
GTCCTGTGAGATCCATCCATCCTGATGGCACATGAGGATGTGGGCACAGC
CTCTGTGTGTGAGATAGGGACCATGTCCCAGCTC
 G
G
 1 a0001c0001t0001g0005
a0001c0001t0001g0005
 1 NA18980.hp2
NA18980.hp2
 intron_variant MODIFIER c.911-1905_911-1823d
others(85): Show 
c.911-1905_911-1823delATCCATCCATCCTGATGGCACATGAGGA
TGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCT
GTGAG
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 INFO_REALIGN_3_PRIME chrX 1640888
chrX:1640894
T
T
 A
A
 2 a0001c0003t0002g0133
a0003c0009t0001g0011
a0001c0003t0002g0133
a0003c0009t0001g0011
 2 HG03486.hp2
NA19030.hp2
HG03486.hp2
NA19030.hp2
 intron_variant MODIFIER c.911-1909T>A
c.911-1909T>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1640894
chrX:1640898
A
A
 G
G
 21 a0001c0001t0001g0007
a0001c0001t0001g0121
a0001c0001t0002g0161
others(18): Show 
a0001c0001t0001g0007
a0001c0001t0001g0121
a0001c0001t0002g0161
a0001c0001t0002g0184
a0001c0001t0002g0200
a0001c0001t0002g0201
a0001c0003t0001g0070
a0001c0003t0002g0133
a0001c0003t0002g0150
a0002c0002t0001g0020
a0002c0002t0001g0044
a0002c0002t0001g0069
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0124
a0002c0002t0001g0208
a0002c0002t0002g0166
a0002c0002t0002g0172
a0002c0006t0001g0187
a0003c0009t0001g0011
a0013c0017t0001g0111
 21 HG00544.hp2
HG01256.hp1
HG01361.hp1
others(18): Show 
HG00544.hp2
HG01256.hp1
HG01361.hp1
HG01496.hp1
HG01516.hp1
HG01517.hp1
HG01884.hp2
HG01891.hp1
HG01993.hp2
HG02080.hp1
HG02109.hp1
HG02280.hp1
HG02280.hp2
HG02523.hp1
HG02630.hp2
HG03041.hp2
HG03486.hp2
NA19010.hp2
NA19030.hp2
NA19057.hp1
NA19057.hp2
 intron_variant MODIFIER c.911-1905A>G
c.911-1905A>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1640898
chrX:1640903
T
T
 C
C
 1 a0002c0002t0002g0172
a0002c0002t0002g0172
 1 NA19057.hp1
NA19057.hp1
 intron_variant MODIFIER c.911-1900T>C
c.911-1900T>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1640903
chrX:1640905
C
C
 T
T
 1 a0002c0002t0002g0172
a0002c0002t0002g0172
 1 NA19057.hp1
NA19057.hp1
 intron_variant MODIFIER c.911-1898C>T
c.911-1898C>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1640905
chrX:1640906
A
A
 C
C
 17 a0001c0001t0001g0017
a0001c0001t0001g0019
a0001c0001t0001g0021
others(14): Show 
a0001c0001t0001g0017
a0001c0001t0001g0019
a0001c0001t0001g0021
a0001c0001t0001g0203
a0001c0001t0002g0196
a0001c0001t0002g0200
a0001c0001t0002g0218
a0001c0003t0001g0050
a0001c0003t0001g0059
a0001c0003t0001g0091
a0002c0002t0001g0002
a0002c0002t0001g0042
a0002c0002t0001g0098
a0002c0002t0002g0188
a0002c0006t0001g0187
a0007c0012t0001g0109
a0013c0017t0001g0111
 17 HG00544.hp2
HG00597.hp2
HG00741.hp1
others(14): Show 
HG00544.hp2
HG00597.hp2
HG00741.hp1
HG00741.hp2
HG01123.hp1
HG01346.hp1
HG01993.hp2
HG02451.hp2
HG02523.hp1
HG03195.hp1
HG03453.hp1
HG03669.hp1
HG04184.hp2
NA18942.hp2
NA18963.hp1
NA18968.hp2
NA20300.hp1
 intron_variant MODIFIER c.911-1897A>C
c.911-1897A>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1640906
chrX:1640916
C
C
 T
T
 9 a0001c0001t0001g0121
a0001c0001t0002g0184
a0001c0001t0002g0196
others(6): Show 
a0001c0001t0001g0121
a0001c0001t0002g0184
a0001c0001t0002g0196
a0001c0003t0001g0070
a0002c0002t0001g0020
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0124
a0002c0002t0002g0172
 9 HG01123.hp1
HG01361.hp1
HG01516.hp1
others(6): Show 
HG01123.hp1
HG01361.hp1
HG01516.hp1
HG01517.hp1
HG01884.hp2
HG02280.hp1
HG02280.hp2
HG03041.hp2
NA19057.hp1
 intron_variant MODIFIER c.911-1887C>T
c.911-1887C>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1640916
chrX:1640917
A
A
 C
C
 3 a0001c0003t0002g0133
a0002c0002t0002g0172
a0003c0009t0001g0011
a0001c0003t0002g0133
a0002c0002t0002g0172
a0003c0009t0001g0011
 3 HG03486.hp2
NA19030.hp2
NA19057.hp1
HG03486.hp2
NA19030.hp2
NA19057.hp1
 intron_variant MODIFIER c.911-1886A>C
c.911-1886A>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1640917
chrX:1640917
A
A
 T
T
 8 a0001c0001t0001g0121
a0001c0001t0002g0184
a0001c0001t0002g0196
others(5): Show 
a0001c0001t0001g0121
a0001c0001t0002g0184
a0001c0001t0002g0196
a0001c0003t0001g0070
a0002c0002t0001g0020
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0124
 8 HG01123.hp1
HG01361.hp1
HG01516.hp1
others(5): Show 
HG01123.hp1
HG01361.hp1
HG01516.hp1
HG01517.hp1
HG01884.hp2
HG02280.hp1
HG02280.hp2
HG03041.hp2
 intron_variant MODIFIER c.911-1886A>T
c.911-1886A>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1640917
chrX:1640917
ACATGAGG
others(323): Show 
ACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCC
AGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATGAGGATGTGGACA
CAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGGTCC
ATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGA
TAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCC
ATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAG
TGTCCTGTGAGATCCATCCCTCCTGATGGTT
 A
A
 1 a0004c0004t0004g0148
a0004c0004t0004g0148
 1 HG03831.hp2
HG03831.hp2
 intron_variant MODIFIER c.911-1799_911-1470d
others(2): Show 
c.911-1799_911-1470del
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 INFO_REALIGN_3_PRIME chrX 1640917
chrX:1640921
GAGGATGT
others(406): Show 
GAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCT
CTCCTGTGAGGTCCACCCATCCTGATGATCCATGAGGATGTGGACACAGC
CTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGGTCCATCC
CTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGG
GACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATGA
GGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTC
CTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTC
TGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCAT
CCTGATGATCCATT
 G
G
 4 a0001c0001t0001g0056
a0001c0001t0001g0076
a0002c0002t0002g0181
others(1): Show 
a0001c0001t0001g0056
a0001c0001t0001g0076
a0002c0002t0002g0181
a0002c0002t0002g0216
 4 HG00099.hp2
HG00323.hp1
HG00735.hp1
others(1): Show 
HG00099.hp2
HG00323.hp1
HG00735.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.911-1872_911-1460d
others(2): Show 
c.911-1872_911-1460del
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 INFO_REALIGN_3_PRIME chrX 1640921
chrX:1640926
T
T
 C
C
 7 a0001c0001t0001g0121
a0001c0001t0002g0184
a0001c0003t0001g0070
others(4): Show 
a0001c0001t0001g0121
a0001c0001t0002g0184
a0001c0003t0001g0070
a0002c0002t0001g0020
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0124
 7 HG01361.hp1
HG01516.hp1
HG01517.hp1
others(4): Show 
HG01361.hp1
HG01516.hp1
HG01517.hp1
HG01884.hp2
HG02280.hp1
HG02280.hp2
HG03041.hp2
 intron_variant MODIFIER c.911-1877T>C
c.911-1877T>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1640926
chrX:1640930
G
G
 A
A
 7 a0001c0001t0001g0121
a0001c0001t0002g0184
a0001c0003t0001g0070
others(4): Show 
a0001c0001t0001g0121
a0001c0001t0002g0184
a0001c0003t0001g0070
a0002c0002t0001g0020
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0124
 7 HG01361.hp1
HG01516.hp1
HG01517.hp1
others(4): Show 
HG01361.hp1
HG01516.hp1
HG01517.hp1
HG01884.hp2
HG02280.hp1
HG02280.hp2
HG03041.hp2
 intron_variant MODIFIER c.911-1873G>A
c.911-1873G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1640930
chrX:1640931
GCACAGCC
others(76): Show 
GCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAG
GTCCACCCATCCTGATGATCCATGAGGATGTGGA
 G
G
 1 a0002c0002t0002g0199
a0002c0002t0002g0199
 1 HG01516.hp2
HG01516.hp2
 intron_variant MODIFIER c.911-1854_911-1772d
others(85): Show 
c.911-1854_911-1772delAGATAGGGACCATGTCCCAGCTCTCCTG
TGAGGTCCACCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGT
GTGTG
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 INFO_REALIGN_3_PRIME chrX 1640931
chrX:1640939
T
T
 G
G
 1 a0002c0002t0002g0166
a0002c0002t0002g0166
 1 HG02080.hp1
HG02080.hp1
 intron_variant MODIFIER c.911-1864T>G
c.911-1864T>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1640939
chrX:1640942
G
G
 C
C
 1 a0002c0002t0002g0166
a0002c0002t0002g0166
 1 HG02080.hp1
HG02080.hp1
 intron_variant MODIFIER c.911-1861G>C
c.911-1861G>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1640942
chrX:1640942
GTGTGTGA
others(569): Show 
GTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATC
CTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGAC
AGTGTCCCAGTGTCCTGTGAGGTCCATCCCTCCTGATGGTTCATGAGGAT
GTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTG
TGAGGTCCACCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGT
GTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTG
ATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCAT
GTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATTAGGATGT
GGACACAGCCTCTGTGTGTGTGATAGGGACCATGTCCCAGTGTCCTGTGA
GGTCCACCTATCCTGATGGTCCATGAGGATGTGGACACAGCCGCTCTGTG
TGTGATGGGGACAGTGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGAT
GGTTCATGGGGACGTGAGCACAGCCTC
 G
G
 2 a0001c0003t0002g0133
a0003c0009t0001g0011
a0001c0003t0002g0133
a0003c0009t0001g0011
 2 HG03486.hp2
NA19030.hp2
HG03486.hp2
NA19030.hp2
 intron_variant MODIFIER c.911-1854_911-1279d
others(2): Show 
c.911-1854_911-1279del
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 INFO_REALIGN_3_PRIME chrX 1640942
chrX:1640949
A
A
 T
T
 8 a0001c0001t0001g0121
a0001c0001t0002g0184
a0001c0003t0001g0070
others(5): Show 
a0001c0001t0001g0121
a0001c0001t0002g0184
a0001c0003t0001g0070
a0002c0002t0001g0020
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0124
a0002c0002t0002g0166
 8 HG01361.hp1
HG01516.hp1
HG01517.hp1
others(5): Show 
HG01361.hp1
HG01516.hp1
HG01517.hp1
HG01884.hp2
HG02080.hp1
HG02280.hp1
HG02280.hp2
HG03041.hp2
 intron_variant MODIFIER c.911-1854A>T
c.911-1854A>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1640949
chrX:1640951
A
A
 T
T
 7 a0001c0001t0001g0121
a0001c0001t0002g0184
a0001c0003t0001g0070
others(4): Show 
a0001c0001t0001g0121
a0001c0001t0002g0184
a0001c0003t0001g0070
a0002c0002t0001g0020
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0124
 7 HG01361.hp1
HG01516.hp1
HG01517.hp1
others(4): Show 
HG01361.hp1
HG01516.hp1
HG01517.hp1
HG01884.hp2
HG02280.hp1
HG02280.hp2
HG03041.hp2
 intron_variant MODIFIER c.911-1852A>T
c.911-1852A>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1640951
chrX:1640953
A
A
 G
G
 8 a0001c0001t0001g0121
a0001c0001t0002g0184
a0001c0003t0001g0070
others(5): Show 
a0001c0001t0001g0121
a0001c0001t0002g0184
a0001c0003t0001g0070
a0002c0002t0001g0020
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0124
a0002c0002t0002g0166
 8 HG01361.hp1
HG01516.hp1
HG01517.hp1
others(5): Show 
HG01361.hp1
HG01516.hp1
HG01517.hp1
HG01884.hp2
HG02080.hp1
HG02280.hp1
HG02280.hp2
HG03041.hp2
 intron_variant MODIFIER c.911-1850A>G
c.911-1850A>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1640953
chrX:1640954
G
G
 A
A
 2 a0001c0001t0002g0161
a0002c0002t0001g0044
a0001c0001t0002g0161
a0002c0002t0001g0044
 2 HG01256.hp1
NA19057.hp2
HG01256.hp1
NA19057.hp2
 intron_variant MODIFIER c.911-1849G>A
c.911-1849G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1640954
chrX:1640959
C
C
 A
A
 8 a0001c0001t0001g0121
a0001c0001t0002g0184
a0001c0003t0001g0070
others(5): Show 
a0001c0001t0001g0121
a0001c0001t0002g0184
a0001c0003t0001g0070
a0002c0002t0001g0020
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0124
a0002c0002t0002g0166
 8 HG01361.hp1
HG01516.hp1
HG01517.hp1
others(5): Show 
HG01361.hp1
HG01516.hp1
HG01517.hp1
HG01884.hp2
HG02080.hp1
HG02280.hp1
HG02280.hp2
HG03041.hp2
 intron_variant MODIFIER c.911-1844C>A
c.911-1844C>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1640959
chrX:1640959
C
C
 T
T
 2 a0001c0001t0002g0161
a0002c0002t0001g0044
a0001c0001t0002g0161
a0002c0002t0001g0044
 2 HG01256.hp1
NA19057.hp2
HG01256.hp1
NA19057.hp2
 intron_variant MODIFIER c.911-1844C>T
c.911-1844C>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1640959
chrX:1640960
A
A
 G
G
 10 a0001c0001t0001g0121
a0001c0001t0002g0161
a0001c0001t0002g0184
others(7): Show 
a0001c0001t0001g0121
a0001c0001t0002g0161
a0001c0001t0002g0184
a0001c0003t0001g0070
a0002c0002t0001g0020
a0002c0002t0001g0044
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0124
a0002c0002t0002g0166
 10 HG01256.hp1
HG01361.hp1
HG01516.hp1
others(7): Show 
HG01256.hp1
HG01361.hp1
HG01516.hp1
HG01517.hp1
HG01884.hp2
HG02080.hp1
HG02280.hp1
HG02280.hp2
HG03041.hp2
NA19057.hp2
 intron_variant MODIFIER c.911-1843A>G
c.911-1843A>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1640960
chrX:1640969
C
C
 T
T
 7 a0001c0001t0001g0121
a0001c0001t0002g0184
a0001c0003t0001g0070
others(4): Show 
a0001c0001t0001g0121
a0001c0001t0002g0184
a0001c0003t0001g0070
a0002c0002t0001g0020
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0124
 7 HG01361.hp1
HG01516.hp1
HG01517.hp1
others(4): Show 
HG01361.hp1
HG01516.hp1
HG01517.hp1
HG01884.hp2
HG02280.hp1
HG02280.hp2
HG03041.hp2
 intron_variant MODIFIER c.911-1834C>T
c.911-1834C>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1640969
chrX:1640971
CTCCTGTG
others(1397): Show 
CTCCTGTGAGGTCCACCCATCCTGATGATCCATGAGGATGTGGACACAGC
CTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGGTCCATCC
CTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGG
GACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATGA
GGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTC
CTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTC
TGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCAT
CCTGATGATCCATTAGGATGTGGACACAGCCTCTGTGTGTGTGATAGGGA
CCATGTCCCAGTGTCCTGTGAGGTCCACCTATCCTGATGGTCCATGAGGA
TGTGGACACAGCCGCTCTGTGTGTGATGGGGACAGTGTCCCAGCTCTCCT
GTGAGGTCCATCCATCCTGATGGTTCATGGGGACGTGAGCACAGCCTCTG
TGTGTGTGTTGGGGACAGTGTCCCAGTTCTCCTGTGAGGTCCACCCATCC
TGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGTGATGGGGACA
GTGTCCCAGTGTCCTGTGAGGTCCACCCATCCTGGTGGTCCATGAGTACA
TGGACACAGCCTCTCTGTGTGAGATGGGGACAGTGTCCCAGTTCTCCTGT
GAGGTCCACCCATCCTGGTGGTCCATGAGTACATGGACACAGCCTCTCTG
TGTGTGATAAGGACAGTGTTCCAGCTCTCCTGTGAGGTCCACCCATCTTG
ATGGTTCATGAGGACTTGGGCATGGCCTCTATGTGTGTGATGGGGACAGT
GTCCCAGTGTCCTGTGAGGTCCACCCATCCTGATGGTCCATGAGGATGTG
GGCACAACCTCTTTGTGTGTGATGGGGACAGTGTCCCAGTGTCTGTGAGG
TCCACCCATCCGATGGTTCATGAGGACGTGGGCACAGCCTCTGTGTGTAA
TGGGGATAGCATCCCAGTGTCCTGTGAGGTCCATCCATCCTGATGGCCCA
TGAGGATGTGGGCACAGCCTCTGTGTGTGTGTGTGTGATGGGGACGGTGT
CCCAGTTCTCCTGTGAGGTCCACCCATCCTGATGGTCCATGAGGACATGG
GCACAGCCTCTCTGTGTGTGATAAGGACAGTGTTCCAGCTCTCCTGTGAG
GTCCACCCATCTTGATGGTTCATGAGGACTTGGGCACAGCCTCTGTGTGT
GTGATGGGGACAGTGTCCCAGTGTCCTGTGAGGTCCATACATCCTGATGG
TCCATGAGGACATGGGCACAACCTCTGTGTGTATAATGGGGACAGTGTCC
CAGTG
 C
C
 6 a0001c0001t0001g0027
a0001c0001t0001g0037
a0001c0001t0002g0141
others(3): Show 
a0001c0001t0001g0027
a0001c0001t0001g0037
a0001c0001t0002g0141
a0001c0001t0002g0180
a0001c0001t0005g0165
a0002c0002t0001g0031
 6 HG01978.hp1
HG01981.hp2
HG02004.hp1
others(3): Show 
HG01978.hp1
HG01981.hp2
HG02004.hp1
HG02148.hp1
HG02273.hp1
HG03491.hp2
 intron_variant MODIFIER c.911-1805_911-402de
others(1): Show 
c.911-1805_911-402del
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 INFO_REALIGN_3_PRIME chrX 1640971
chrX:1640986
C
C
 T
T
 1 a0002c0002t0002g0166
a0002c0002t0002g0166
 1 HG02080.hp1
HG02080.hp1
 intron_variant MODIFIER c.911-1817C>T
c.911-1817C>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1640986
chrX:1640988
C
C
 T
T
 6 a0001c0001t0001g0084
a0001c0001t0001g0086
a0001c0003t0001g0032
others(3): Show 
a0001c0001t0001g0084
a0001c0001t0001g0086
a0001c0003t0001g0032
a0002c0002t0001g0003
a0002c0002t0001g0130
a0002c0002t0002g0160
 6 HG03516.hp2
NA18949.hp2
NA18950.hp1
others(3): Show 
HG03516.hp2
NA18949.hp2
NA18950.hp1
NA18980.hp1
NA19003.hp2
NA19081.hp2
 intron_variant MODIFIER c.911-1815C>T
c.911-1815C>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1640988
chrX:1640998
A
A
 G
G
 18 a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0086
others(15): Show 
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0086
a0001c0001t0001g0121
a0001c0001t0002g0153
a0001c0001t0002g0184
a0001c0001t0002g0200
a0001c0003t0001g0023
a0001c0003t0001g0032
a0001c0003t0001g0070
a0002c0002t0001g0003
a0002c0002t0001g0020
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0124
a0002c0002t0001g0130
a0002c0002t0002g0160
a0002c0002t0002g0166
 18 HG01175.hp1
HG01361.hp1
HG01496.hp2
others(15): Show 
HG01175.hp1
HG01361.hp1
HG01496.hp2
HG01516.hp1
HG01517.hp1
HG01884.hp2
HG01993.hp2
HG02080.hp1
HG02280.hp1
HG02280.hp2
HG03041.hp2
HG03516.hp2
NA18949.hp2
NA18950.hp1
NA18980.hp1
NA18992.hp1
NA19003.hp2
NA19081.hp2
 intron_variant MODIFIER c.911-1805A>G
c.911-1805A>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1640998
chrX:1640999
T
T
 C
C
 1 a0001c0001t0002g0200
a0001c0001t0002g0200
 1 HG01993.hp2
HG01993.hp2
 intron_variant MODIFIER c.911-1804T>C
c.911-1804T>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1640999
chrX:1641000
C
C
 A
A
 1 a0001c0001t0002g0200
a0001c0001t0002g0200
 1 HG01993.hp2
HG01993.hp2
 intron_variant MODIFIER c.911-1803C>A
c.911-1803C>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1641000
chrX:1641000
C
C
 T
T
 11 a0001c0001t0001g0081
a0001c0001t0001g0121
a0001c0001t0002g0153
others(8): Show 
a0001c0001t0001g0081
a0001c0001t0001g0121
a0001c0001t0002g0153
a0001c0001t0002g0184
a0001c0003t0001g0023
a0001c0003t0001g0070
a0002c0002t0001g0020
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0124
a0002c0002t0002g0166
 11 HG01175.hp1
HG01361.hp1
HG01496.hp2
others(8): Show 
HG01175.hp1
HG01361.hp1
HG01496.hp2
HG01516.hp1
HG01517.hp1
HG01884.hp2
HG02080.hp1
HG02280.hp1
HG02280.hp2
HG03041.hp2
NA18992.hp1
 intron_variant MODIFIER c.911-1803C>T
c.911-1803C>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1641000
chrX:1641000
CCATGAGG
others(75): Show 
CCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCC
AGTGTCCTGTGAGGTCCATCCCTCCTGATGGTT
 C
C
 1 a0001c0001t0002g0196
a0001c0001t0002g0196
 1 HG01123.hp1
HG01123.hp1
 intron_variant MODIFIER c.911-1789_911-1708d
others(84): Show 
c.911-1789_911-1708delACACAGCCTCTGTGTGTGTGATGGGGAC
AGTGTCCCAGTGTCCTGTGAGGTCCATCCCTCCTGATGGTTCATGAGGAT
GTGG
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 INFO_REALIGN_3_PRIME chrX 1641000
chrX:1641004
G
G
 T
T
 1 a0001c0001t0001g0203
a0001c0001t0001g0203
 1 HG02451.hp2
HG02451.hp2
 intron_variant MODIFIER c.911-1799G>T
c.911-1799G>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1641004
chrX:1641009
T
T
 C
C
 7 a0001c0001t0001g0084
a0001c0001t0001g0086
a0001c0001t0002g0153
others(4): Show 
a0001c0001t0001g0084
a0001c0001t0001g0086
a0001c0001t0002g0153
a0001c0003t0001g0032
a0002c0002t0001g0003
a0002c0002t0001g0130
a0002c0002t0002g0160
 7 HG01496.hp2
HG03516.hp2
NA18949.hp2
others(4): Show 
HG01496.hp2
HG03516.hp2
NA18949.hp2
NA18950.hp1
NA18980.hp1
NA19003.hp2
NA19081.hp2
 intron_variant MODIFIER c.911-1794T>C
c.911-1794T>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1641009
chrX:1641014
A
A
 G
G
 12 a0001c0001t0001g0006
a0001c0001t0001g0081
a0001c0001t0001g0121
others(9): Show 
a0001c0001t0001g0006
a0001c0001t0001g0081
a0001c0001t0001g0121
a0001c0001t0002g0135
a0001c0001t0002g0153
a0001c0001t0002g0184
a0001c0001t0002g0200
a0001c0003t0001g0023
a0001c0003t0001g0070
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0124
 12 HG01175.hp1
HG01361.hp1
HG01496.hp2
others(9): Show 
HG01175.hp1
HG01361.hp1
HG01496.hp2
HG01516.hp1
HG01517.hp1
HG01884.hp2
HG01993.hp2
HG02280.hp2
HG02615.hp2
HG03041.hp2
HG03540.hp1
NA18992.hp1
 intron_variant MODIFIER c.911-1789A>G
c.911-1789A>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1641014
chrX:1641016
A
A
 T
T
 1 a0001c0001t0002g0153
a0001c0001t0002g0153
 1 HG01496.hp2
HG01496.hp2
 intron_variant MODIFIER c.911-1787A>T
c.911-1787A>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1641016
chrX:1641022
T
T
 G
G
 6 a0001c0001t0001g0084
a0001c0001t0001g0086
a0001c0003t0001g0032
others(3): Show 
a0001c0001t0001g0084
a0001c0001t0001g0086
a0001c0003t0001g0032
a0002c0002t0001g0003
a0002c0002t0001g0130
a0002c0002t0002g0160
 6 HG03516.hp2
NA18949.hp2
NA18950.hp1
others(3): Show 
HG03516.hp2
NA18949.hp2
NA18950.hp1
NA18980.hp1
NA19003.hp2
NA19081.hp2
 intron_variant MODIFIER c.911-1781T>G
c.911-1781T>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1641022
chrX:1641023
CTG
CTG
 C
C
 3 a0001c0001t0001g0081
a0001c0001t0002g0200
a0001c0003t0001g0023
a0001c0001t0001g0081
a0001c0001t0002g0200
a0001c0003t0001g0023
 3 HG01175.hp1
HG01993.hp2
NA18992.hp1
HG01175.hp1
HG01993.hp2
NA18992.hp1
 intron_variant MODIFIER c.911-1771_911-1770d
others(4): Show 
c.911-1771_911-1770delTG
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 INFO_REALIGN_3_PRIME chrX 1641023
chrX:1641025
G
G
 C
C
 6 a0001c0001t0001g0084
a0001c0001t0001g0086
a0001c0003t0001g0032
others(3): Show 
a0001c0001t0001g0084
a0001c0001t0001g0086
a0001c0003t0001g0032
a0002c0002t0001g0003
a0002c0002t0001g0130
a0002c0002t0002g0160
 6 HG03516.hp2
NA18949.hp2
NA18950.hp1
others(3): Show 
HG03516.hp2
NA18949.hp2
NA18950.hp1
NA18980.hp1
NA19003.hp2
NA19081.hp2
 intron_variant MODIFIER c.911-1778G>C
c.911-1778G>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1641025
chrX:1641029
GTGTGATG
others(1317): Show 
GTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGGTCCATCCCTCCTGAT
GGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGT
CCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATGAGGATGTGG
ACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGA
TCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTG
AGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGA
TCCATTAGGATGTGGACACAGCCTCTGTGTGTGTGATAGGGACCATGTCC
CAGTGTCCTGTGAGGTCCACCTATCCTGATGGTCCATGAGGATGTGGACA
CAGCCGCTCTGTGTGTGATGGGGACAGTGTCCCAGCTCTCCTGTGAGGTC
CATCCATCCTGATGGTTCATGGGGACGTGAGCACAGCCTCTGTGTGTGTG
TTGGGGACAGTGTCCCAGTTCTCCTGTGAGGTCCACCCATCCTGATGGTT
CATGAGGATGTGGGCACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCA
GTGTCCTGTGAGGTCCACCCATCCTGGTGGTCCATGAGTACATGGACACA
GCCTCTCTGTGTGAGATGGGGACAGTGTCCCAGTTCTCCTGTGAGGTCCA
CCCATCCTGGTGGTCCATGAGTACATGGACACAGCCTCTCTGTGTGTGAT
AAGGACAGTGTTCCAGCTCTCCTGTGAGGTCCACCCATCTTGATGGTTCA
TGAGGACTTGGGCATGGCCTCTATGTGTGTGATGGGGACAGTGTCCCAGT
GTCCTGTGAGGTCCACCCATCCTGATGGTCCATGAGGATGTGGGCACAAC
CTCTTTGTGTGTGATGGGGACAGTGTCCCAGTGTCTGTGAGGTCCACCCA
TCCGATGGTTCATGAGGACGTGGGCACAGCCTCTGTGTGTAATGGGGATA
GCATCCCAGTGTCCTGTGAGGTCCATCCATCCTGATGGCCCATGAGGATG
TGGGCACAGCCTCTGTGTGTGTGTGTGTGATGGGGACGGTGTCCCAGTTC
TCCTGTGAGGTCCACCCATCCTGATGGTCCATGAGGACATGGGCACAGCC
TCTCTGTGTGTGATAAGGACAGTGTTCCAGCTCTCCTGTGAGGTCCACCC
ATCTTGATGGTTCATGAGGACTTGGGCACAGCCTCTGTGTGTGTGATGGG
GACAGTGTCCCAGTGTCCTGTGAGGTCCATACATCCTGATGGTCCATGAG
GACATGGGCACAACCTCTGTGTGTA
 G
G
 1 a0001c0001t0002g0153
a0001c0001t0002g0153
 1 HG01496.hp2
HG01496.hp2
 intron_variant MODIFIER c.911-1772_911-449de
others(1): Show 
c.911-1772_911-449del
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 INFO_REALIGN_3_PRIME chrX 1641029
chrX:1641031
G
G
 A
A
 5 a0001c0001t0001g0081
a0001c0001t0002g0200
a0001c0003t0001g0023
others(2): Show 
a0001c0001t0001g0081
a0001c0001t0002g0200
a0001c0003t0001g0023
a0001c0003t0001g0062
a0002c0002t0002g0198
 5 HG01123.hp2
HG01175.hp1
HG01975.hp1
others(2): Show 
HG01123.hp2
HG01175.hp1
HG01975.hp1
HG01993.hp2
NA18992.hp1
 intron_variant MODIFIER c.911-1772G>A
c.911-1772G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1641031
chrX:1641036
G
G
 A
A
 1 a0002c0002t0001g0020
a0002c0002t0001g0020
 1 HG02280.hp1
HG02280.hp1
 intron_variant MODIFIER c.911-1767G>A
c.911-1767G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1641036
chrX:1641043
GTGTCCCA
others(323): Show 
GTGTCCCAGTGTCCTGTGAGGTCCATCCCTCCTGATGGTTCATGAGGATG
TGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGT
GAGGTCCACCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTG
TGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGA
TGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATG
TCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATTAGGATGTG
GACACAGCCTCTGTGTGTGTGATAGGGACCA
 G
G
 2 a0001c0001t0002g0201
a0002c0002t0001g0044
a0001c0001t0002g0201
a0002c0002t0001g0044
 2 HG01256.hp1
HG01496.hp1
HG01256.hp1
HG01496.hp1
 intron_variant MODIFIER c.911-1735_911-1406d
others(2): Show 
c.911-1735_911-1406del
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 INFO_REALIGN_3_PRIME chrX 1641043
chrX:1641051
G
G
 GC
GC
 5 a0001c0001t0001g0084
a0001c0001t0001g0086
a0002c0002t0001g0003
others(2): Show 
a0001c0001t0001g0084
a0001c0001t0001g0086
a0002c0002t0001g0003
a0002c0002t0001g0130
a0002c0002t0002g0160
 5 HG03516.hp2
NA18949.hp2
NA18950.hp1
others(2): Show 
HG03516.hp2
NA18949.hp2
NA18950.hp1
NA19003.hp2
NA19081.hp2
 intron_variant MODIFIER c.911-1752_911-1751i
others(3): Show 
c.911-1752_911-1751insC
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1641051
chrX:1641053
G
G
 C
C
 5 a0001c0001t0001g0084
a0001c0001t0001g0086
a0002c0002t0001g0003
others(2): Show 
a0001c0001t0001g0084
a0001c0001t0001g0086
a0002c0002t0001g0003
a0002c0002t0001g0130
a0002c0002t0002g0160
 5 HG03516.hp2
NA18949.hp2
NA18950.hp1
others(2): Show 
HG03516.hp2
NA18949.hp2
NA18950.hp1
NA19003.hp2
NA19081.hp2
 intron_variant MODIFIER c.911-1750G>C
c.911-1750G>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1641053
chrX:1641053
GTCCTGTG
others(76): Show 
GTCCTGTGAGGTCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGC
CTCTGTGTGTGAGATAGGGACCATGTCCCAGCTC
 G
G
 1 a0002c0002t0001g0042
a0002c0002t0001g0042
 1 NA18942.hp2
NA18942.hp2
 intron_variant MODIFIER c.911-1735_911-1653d
others(85): Show 
c.911-1735_911-1653delTCCCTCCTGATGGTTCATGAGGATGTGG
GCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAG
GTCCA
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 INFO_REALIGN_3_PRIME chrX 1641053
chrX:1641063
G
G
 A
A
 3 a0001c0001t0001g0005
a0001c0001t0002g0218
a0002c0002t0002g0188
a0001c0001t0001g0005
a0001c0001t0002g0218
a0002c0002t0002g0188
 3 HG00741.hp1
HG03669.hp1
NA18980.hp2
HG00741.hp1
HG03669.hp1
NA18980.hp2
 intron_variant MODIFIER c.911-1740G>A
c.911-1740G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1641063
chrX:1641063
GTCCATCC
others(158): Show 
GTCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGT
GAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATG
ATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTC
CCAGTGTCCTGTGAGA
 G
G
 2 a0001c0001t0001g0203
a0001c0003t0001g0050
a0001c0001t0001g0203
a0001c0003t0001g0050
 2 HG02451.hp2
HG04184.hp2
HG02451.hp2
HG04184.hp2
 intron_variant MODIFIER c.911-1634_911-1470d
others(2): Show 
c.911-1634_911-1470del
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 INFO_REALIGN_3_PRIME chrX 1641063
chrX:1641068
T
T
 C
C
 6 a0001c0001t0001g0006
a0001c0001t0001g0097
a0001c0001t0002g0135
others(3): Show 
a0001c0001t0001g0006
a0001c0001t0001g0097
a0001c0001t0002g0135
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0124
 6 HG01361.hp1
HG01516.hp1
HG01517.hp1
others(3): Show 
HG01361.hp1
HG01516.hp1
HG01517.hp1
HG02615.hp2
HG03540.hp1
NA19064.hp2
 intron_variant MODIFIER c.911-1735T>C
c.911-1735T>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1641068
chrX:1641070
C
C
 T
T
 2 a0001c0001t0001g0006
a0001c0001t0002g0135
a0001c0001t0001g0006
a0001c0001t0002g0135
 2 HG02615.hp2
HG03540.hp1
HG02615.hp2
HG03540.hp1
 intron_variant MODIFIER c.911-1733C>T
c.911-1733C>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1641070
chrX:1641071
C
C
 A
A
 15 a0001c0001t0001g0006
a0001c0001t0001g0084
a0001c0001t0001g0086
others(12): Show 
a0001c0001t0001g0006
a0001c0001t0001g0084
a0001c0001t0001g0086
a0001c0001t0001g0097
a0001c0001t0002g0135
a0001c0001t0002g0184
a0001c0003t0001g0070
a0002c0002t0001g0003
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0124
a0002c0002t0001g0130
a0002c0002t0002g0160
a0002c0002t0002g0166
a0002c0002t0002g0198
 15 HG01123.hp2
HG01361.hp1
HG01516.hp1
others(12): Show 
HG01123.hp2
HG01361.hp1
HG01516.hp1
HG01517.hp1
HG01884.hp2
HG02080.hp1
HG02280.hp2
HG02615.hp2
HG03516.hp2
HG03540.hp1
NA18949.hp2
NA18950.hp1
NA19003.hp2
NA19064.hp2
NA19081.hp2
 intron_variant MODIFIER c.911-1732C>A
c.911-1732C>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1641071
chrX:1641080
G
G
 A
A
 3 a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0124
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0124
 3 HG01361.hp1
HG01516.hp1
HG01517.hp1
HG01361.hp1
HG01516.hp1
HG01517.hp1
 intron_variant MODIFIER c.911-1723G>A
c.911-1723G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1641080
chrX:1641080
GTTCATGA
others(241): Show 
GTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTC
CCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATGAGGATGTGGA
CACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGAT
CCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGA
GATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGA
 G
G
 1 a0001c0001t0001g0001
a0001c0001t0001g0001
 2 HG02559.hp1
NA19240.hp1
HG02559.hp1
NA19240.hp1
 intron_variant MODIFIER c.911-1721_911-1474d
others(2): Show 
c.911-1721_911-1474del
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 INFO_REALIGN_3_PRIME chrX 1641080
chrX:1641081
T
T
 C
C
 10 a0001c0001t0001g0081
a0001c0001t0001g0097
a0001c0001t0002g0200
others(7): Show 
a0001c0001t0001g0081
a0001c0001t0001g0097
a0001c0001t0002g0200
a0001c0003t0001g0023
a0001c0003t0001g0062
a0002c0002t0002g0166
a0002c0002t0002g0198
a0002c0002t0002g0199
a0002c0006t0001g0187
a0007c0012t0001g0109
 10 HG00544.hp2
HG01123.hp2
HG01175.hp1
others(7): Show 
HG00544.hp2
HG01123.hp2
HG01175.hp1
HG01516.hp2
HG01975.hp1
HG01993.hp2
HG02080.hp1
NA18963.hp1
NA18992.hp1
NA19064.hp2
 intron_variant MODIFIER c.911-1722T>C
c.911-1722T>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1641081
chrX:1641082
T
T
 A
A
 10 a0001c0001t0001g0081
a0001c0001t0001g0097
a0001c0001t0002g0200
others(7): Show 
a0001c0001t0001g0081
a0001c0001t0001g0097
a0001c0001t0002g0200
a0001c0003t0001g0023
a0001c0003t0001g0062
a0002c0002t0002g0166
a0002c0002t0002g0198
a0002c0002t0002g0199
a0002c0006t0001g0187
a0007c0012t0001g0109
 10 HG00544.hp2
HG01123.hp2
HG01175.hp1
others(7): Show 
HG00544.hp2
HG01123.hp2
HG01175.hp1
HG01516.hp2
HG01975.hp1
HG01993.hp2
HG02080.hp1
NA18963.hp1
NA18992.hp1
NA19064.hp2
 intron_variant MODIFIER c.911-1721T>A
c.911-1721T>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1641082
chrX:1641082
T
T
 C
C
 5 a0001c0001t0001g0006
a0001c0001t0002g0135
a0002c0002t0001g0116
others(2): Show 
a0001c0001t0001g0006
a0001c0001t0002g0135
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0124
 5 HG01361.hp1
HG01516.hp1
HG01517.hp1
others(2): Show 
HG01361.hp1
HG01516.hp1
HG01517.hp1
HG02615.hp2
HG03540.hp1
 intron_variant MODIFIER c.911-1721T>C
c.911-1721T>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1641082
chrX:1641086
G
G
 T
T
 1 a0001c0001t0002g0196
a0001c0001t0002g0196
 1 HG01123.hp1
HG01123.hp1
 intron_variant MODIFIER c.911-1717G>T
c.911-1717G>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1641086
chrX:1641087
A
A
 G
G
 2 a0001c0001t0002g0184
a0001c0003t0001g0070
a0001c0001t0002g0184
a0001c0003t0001g0070
 2 HG01884.hp2
HG02280.hp2
HG01884.hp2
HG02280.hp2
 intron_variant MODIFIER c.911-1716A>G
c.911-1716A>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1641087
chrX:1641091
T
T
 C
C
 9 a0001c0001t0001g0006
a0001c0001t0001g0084
a0001c0001t0001g0086
others(6): Show 
a0001c0001t0001g0006
a0001c0001t0001g0084
a0001c0001t0001g0086
a0001c0001t0002g0135
a0001c0001t0002g0184
a0001c0003t0001g0070
a0002c0002t0001g0003
a0002c0002t0001g0130
a0002c0002t0002g0160
 9 HG01884.hp2
HG02280.hp2
HG02615.hp2
others(6): Show 
HG01884.hp2
HG02280.hp2
HG02615.hp2
HG03516.hp2
HG03540.hp1
NA18949.hp2
NA18950.hp1
NA19003.hp2
NA19081.hp2
 intron_variant MODIFIER c.911-1712T>C
c.911-1712T>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1641091
chrX:1641095
G
G
 A
A
 7 a0001c0001t0001g0084
a0001c0001t0001g0086
a0001c0001t0002g0184
others(4): Show 
a0001c0001t0001g0084
a0001c0001t0001g0086
a0001c0001t0002g0184
a0001c0003t0001g0070
a0002c0002t0001g0003
a0002c0002t0001g0130
a0002c0002t0002g0160
 7 HG01884.hp2
HG02280.hp2
HG03516.hp2
others(4): Show 
HG01884.hp2
HG02280.hp2
HG03516.hp2
NA18949.hp2
NA18950.hp1
NA19003.hp2
NA19081.hp2
 intron_variant MODIFIER c.911-1708G>A
c.911-1708G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1641095
chrX:1641096
G
G
 A
A
 3 a0001c0001t0001g0006
a0001c0001t0002g0135
a0001c0003t0001g0033
a0001c0001t0001g0006
a0001c0001t0002g0135
a0001c0003t0001g0033
 3 HG02615.hp2
HG03540.hp1
NA18969.hp1
HG02615.hp2
HG03540.hp1
NA18969.hp1
 intron_variant MODIFIER c.911-1707G>A
c.911-1707G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1641096
chrX:1641104
T
T
 G
G
 2 a0001c0001t0001g0006
a0001c0001t0002g0135
a0001c0001t0001g0006
a0001c0001t0002g0135
 2 HG02615.hp2
HG03540.hp1
HG02615.hp2
HG03540.hp1
 intron_variant MODIFIER c.911-1699T>G
c.911-1699T>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1641104
chrX:1641105
C
C
 CTG
CTG
 1 a0001c0003t0001g0033
a0001c0003t0001g0033
 1 NA18969.hp1
NA18969.hp1
 intron_variant MODIFIER c.911-1691_911-1690d
others(4): Show 
c.911-1691_911-1690dupTG
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 INFO_REALIGN_3_PRIME chrX 1641105
chrX:1641107
G
G
 C
C
 2 a0001c0001t0001g0006
a0001c0001t0002g0135
a0001c0001t0001g0006
a0001c0001t0002g0135
 2 HG02615.hp2
HG03540.hp1
HG02615.hp2
HG03540.hp1
 intron_variant MODIFIER c.911-1696G>C
c.911-1696G>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1641107
chrX:1641107
GTGTGTGA
others(323): Show 
GTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATC
CTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGAC
AGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGAT
GTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTG
TGAGGTCCACCCATCCTGATGATCCATTAGGATGTGGACACAGCCTCTGT
GTGTGTGATAGGGACCATGTCCCAGTGTCCTGTGAGGTCCACCTATCCTG
ATGGTCCATGAGGATGTGGACACAGCCGCTC
 G
G
 2 a0001c0001t0001g0084
a0001c0001t0001g0086
a0001c0001t0001g0084
a0001c0001t0001g0086
 2 NA18950.hp1
NA19081.hp2
NA18950.hp1
NA19081.hp2
 intron_variant MODIFIER c.911-1689_911-1360d
others(2): Show 
c.911-1689_911-1360del
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 INFO_REALIGN_3_PRIME chrX 1641107
chrX:1641114
A
A
 T
T
 8 a0001c0001t0001g0006
a0001c0001t0002g0135
a0001c0001t0002g0184
others(5): Show 
a0001c0001t0001g0006
a0001c0001t0002g0135
a0001c0001t0002g0184
a0001c0003t0001g0070
a0002c0002t0001g0003
a0002c0002t0001g0098
a0002c0002t0001g0130
a0002c0002t0002g0160
 8 HG01346.hp1
HG01884.hp2
HG02280.hp2
others(5): Show 
HG01346.hp1
HG01884.hp2
HG02280.hp2
HG02615.hp2
HG03516.hp2
HG03540.hp1
NA18949.hp2
NA19003.hp2
 intron_variant MODIFIER c.911-1689A>T
c.911-1689A>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1641114
chrX:1641114
AGATAGGG
others(241): Show 
AGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGA
TCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCC
CAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCA
CAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTC
CACCCATCCTGATGATCCATTAGGATGTGGACACAGCCTCTGTGTGTGT
 A
A
 6 a0001c0001t0001g0007
a0001c0003t0001g0032
a0002c0002t0001g0069
others(3): Show 
a0001c0001t0001g0007
a0001c0003t0001g0032
a0002c0002t0001g0069
a0002c0002t0001g0085
a0002c0002t0001g0208
a0002c0002t0002g0207
 6 HG01891.hp1
HG02109.hp1
HG02630.hp2
others(3): Show 
HG01891.hp1
HG02109.hp1
HG02630.hp2
NA18947.hp2
NA18980.hp1
NA18999.hp2
 intron_variant MODIFIER c.911-1669_911-1422d
others(2): Show 
c.911-1669_911-1422del
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 INFO_REALIGN_3_PRIME chrX 1641114
chrX:1641116
A
A
 T
T
 5 a0001c0001t0002g0184
a0001c0003t0001g0070
a0002c0002t0001g0003
others(2): Show 
a0001c0001t0002g0184
a0001c0003t0001g0070
a0002c0002t0001g0003
a0002c0002t0001g0130
a0002c0002t0002g0160
 5 HG01884.hp2
HG02280.hp2
HG03516.hp2
others(2): Show 
HG01884.hp2
HG02280.hp2
HG03516.hp2
NA18949.hp2
NA19003.hp2
 intron_variant MODIFIER c.911-1687A>T
c.911-1687A>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1641116
chrX:1641118
A
A
 G
G
 10 a0001c0001t0001g0006
a0001c0001t0002g0135
a0001c0001t0002g0184
others(7): Show 
a0001c0001t0001g0006
a0001c0001t0002g0135
a0001c0001t0002g0184
a0001c0003t0001g0070
a0002c0002t0001g0003
a0002c0002t0001g0020
a0002c0002t0001g0098
a0002c0002t0001g0130
a0002c0002t0002g0160
a0002c0002t0002g0188
 10 HG01346.hp1
HG01884.hp2
HG02280.hp1
others(7): Show 
HG01346.hp1
HG01884.hp2
HG02280.hp1
HG02280.hp2
HG02615.hp2
HG03516.hp2
HG03540.hp1
HG03669.hp1
NA18949.hp2
NA19003.hp2
 intron_variant MODIFIER c.911-1685A>G
c.911-1685A>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1641118
chrX:1641119
G
G
 A
A
 2 a0001c0001t0001g0079
a0003c0005t0001g0202
a0001c0001t0001g0079
a0003c0005t0001g0202
 2 HG02922.hp1
NA18955.hp1
HG02922.hp1
NA18955.hp1
 intron_variant MODIFIER c.911-1684G>A
c.911-1684G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1641119
chrX:1641124
C
C
 A
A
 8 a0001c0001t0001g0006
a0001c0001t0002g0135
a0001c0001t0002g0184
others(5): Show 
a0001c0001t0001g0006
a0001c0001t0002g0135
a0001c0001t0002g0184
a0001c0003t0001g0070
a0002c0002t0001g0003
a0002c0002t0001g0020
a0002c0002t0001g0130
a0002c0002t0002g0160
 8 HG01884.hp2
HG02280.hp1
HG02280.hp2
others(5): Show 
HG01884.hp2
HG02280.hp1
HG02280.hp2
HG02615.hp2
HG03516.hp2
HG03540.hp1
NA18949.hp2
NA19003.hp2
 intron_variant MODIFIER c.911-1679C>A
c.911-1679C>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1641124
chrX:1641124
C
C
 T
T
 2 a0001c0001t0001g0079
a0003c0005t0001g0202
a0001c0001t0001g0079
a0003c0005t0001g0202
 2 HG02922.hp1
NA18955.hp1
HG02922.hp1
NA18955.hp1
 intron_variant MODIFIER c.911-1679C>T
c.911-1679C>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1641124
chrX:1641125
A
A
 G
G
 11 a0001c0001t0001g0006
a0001c0001t0001g0079
a0001c0001t0001g0121
others(8): Show 
a0001c0001t0001g0006
a0001c0001t0001g0079
a0001c0001t0001g0121
a0001c0001t0002g0135
a0001c0001t0002g0184
a0001c0003t0001g0070
a0002c0002t0001g0003
a0002c0002t0001g0020
a0002c0002t0001g0130
a0002c0002t0002g0160
a0003c0005t0001g0202
 11 HG01884.hp2
HG02280.hp1
HG02280.hp2
others(8): Show 
HG01884.hp2
HG02280.hp1
HG02280.hp2
HG02615.hp2
HG02922.hp1
HG03041.hp2
HG03516.hp2
HG03540.hp1
NA18949.hp2
NA18955.hp1
NA19003.hp2
 intron_variant MODIFIER c.911-1678A>G
c.911-1678A>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1641125
chrX:1641133
GC
GC
 G
G
 8 a0001c0001t0001g0012
a0001c0001t0001g0121
a0001c0001t0002g0195
others(5): Show 
a0001c0001t0001g0012
a0001c0001t0001g0121
a0001c0001t0002g0195
a0002c0002t0001g0122
a0002c0002t0001g0221
a0002c0002t0002g0136
a0002c0002t0002g0159
a0005c0016t0001g0045
 8 HG01070.hp2
HG02257.hp1
HG03041.hp2
others(5): Show 
HG01070.hp2
HG02257.hp1
HG03041.hp2
HG03486.hp1
HG03516.hp1
HG03540.hp2
HG03704.hp2
NA19030.hp1
 intron_variant MODIFIER c.911-1669delC
c.911-1669delC
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1641133
chrX:1641134
C
C
 T
T
 6 a0001c0001t0002g0184
a0001c0003t0001g0070
a0002c0002t0001g0003
others(3): Show 
a0001c0001t0002g0184
a0001c0003t0001g0070
a0002c0002t0001g0003
a0002c0002t0001g0020
a0002c0002t0001g0130
a0002c0002t0002g0160
 6 HG01884.hp2
HG02280.hp1
HG02280.hp2
others(3): Show 
HG01884.hp2
HG02280.hp1
HG02280.hp2
HG03516.hp2
NA18949.hp2
NA19003.hp2
 intron_variant MODIFIER c.911-1669C>T
c.911-1669C>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1641134
chrX:1641136
C
C
 G
G
 9 a0001c0001t0001g0012
a0001c0001t0001g0121
a0001c0001t0002g0195
others(6): Show 
a0001c0001t0001g0012
a0001c0001t0001g0121
a0001c0001t0002g0195
a0002c0002t0001g0015
a0002c0002t0001g0122
a0002c0002t0001g0221
a0002c0002t0002g0136
a0002c0002t0002g0159
a0005c0016t0001g0045
 9 HG01070.hp2
HG02257.hp1
HG02896.hp2
others(6): Show 
HG01070.hp2
HG02257.hp1
HG02896.hp2
HG03041.hp2
HG03486.hp1
HG03516.hp1
HG03540.hp2
HG03704.hp2
NA19030.hp1
 intron_variant MODIFIER c.911-1667C>G
c.911-1667C>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1641136
chrX:1641151
C
C
 T
T
 3 a0001c0001t0001g0006
a0001c0001t0002g0135
a0001c0003t0001g0091
a0001c0001t0001g0006
a0001c0001t0002g0135
a0001c0003t0001g0091
 3 HG00597.hp2
HG02615.hp2
HG03540.hp1
HG00597.hp2
HG02615.hp2
HG03540.hp1
 intron_variant MODIFIER c.911-1652C>T
c.911-1652C>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1641151
chrX:1641153
C
C
 T
T
 3 a0001c0001t0001g0121
a0001c0001t0002g0195
a0002c0002t0001g0042
a0001c0001t0001g0121
a0001c0001t0002g0195
a0002c0002t0001g0042
 3 HG03041.hp2
HG03704.hp2
NA18942.hp2
HG03041.hp2
HG03704.hp2
NA18942.hp2
 intron_variant MODIFIER c.911-1650C>T
c.911-1650C>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1641153
chrX:1641163
A
A
 C
C
 1 a0001c0001t0002g0218
a0001c0001t0002g0218
 1 HG00741.hp1
HG00741.hp1
 intron_variant MODIFIER c.911-1640A>C
c.911-1640A>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1641163
chrX:1641163
A
A
 G
G
 13 a0001c0001t0001g0006
a0001c0001t0001g0043
a0001c0001t0001g0121
others(10): Show 
a0001c0001t0001g0006
a0001c0001t0001g0043
a0001c0001t0001g0121
a0001c0001t0001g0204
a0001c0001t0001g0209
a0001c0001t0002g0135
a0001c0001t0002g0161
a0001c0001t0002g0184
a0001c0001t0002g0195
a0001c0003t0001g0070
a0002c0002t0001g0003
a0002c0002t0001g0042
a0002c0002t0001g0130
 13 HG01884.hp2
HG02280.hp2
HG02615.hp2
others(10): Show 
HG01884.hp2
HG02280.hp2
HG02615.hp2
HG02630.hp1
HG02809.hp2
HG02976.hp2
HG03041.hp2
HG03540.hp1
HG03704.hp2
NA18942.hp2
NA18949.hp2
NA19003.hp2
NA19057.hp2
 intron_variant MODIFIER c.911-1640A>G
c.911-1640A>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1641163
chrX:1641165
C
C
 T
T
 9 a0001c0001t0001g0006
a0001c0001t0002g0135
a0001c0001t0002g0161
others(6): Show 
a0001c0001t0001g0006
a0001c0001t0002g0135
a0001c0001t0002g0161
a0001c0001t0002g0184
a0001c0001t0002g0218
a0001c0003t0001g0070
a0001c0003t0002g0142
a0002c0002t0001g0003
a0002c0002t0001g0130
 9 HG00741.hp1
HG01884.hp2
HG02280.hp2
others(6): Show 
HG00741.hp1
HG01884.hp2
HG02280.hp2
HG02615.hp2
HG03491.hp1
HG03540.hp1
NA18949.hp2
NA19003.hp2
NA19057.hp2
 intron_variant MODIFIER c.911-1638C>T
c.911-1638C>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1641165
chrX:1641165
CCATGAGG
others(75): Show 
CCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCC
AGTGTCCTGTGAGATCCATCCCTCCTGATGGTT
 C
C
 1 a0001c0001t0002g0196
a0001c0001t0002g0196
 1 HG01123.hp1
HG01123.hp1
 intron_variant MODIFIER c.911-1624_911-1543d
others(84): Show 
c.911-1624_911-1543delACACAGCCTCTGTGTGTGTGATGGGGAC
AGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGAT
GTGG
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 INFO_REALIGN_3_PRIME chrX 1641165
chrX:1641169
G
G
 T
T
 6 a0001c0001t0001g0097
a0001c0003t0002g0150
a0002c0002t0001g0020
others(3): Show 
a0001c0001t0001g0097
a0001c0003t0002g0150
a0002c0002t0001g0020
a0002c0002t0001g0151
a0002c0002t0002g0166
a0002c0002t0002g0172
 6 HG02080.hp1
HG02280.hp1
NA18954.hp2
others(3): Show 
HG02080.hp1
HG02280.hp1
NA18954.hp2
NA19010.hp2
NA19057.hp1
NA19064.hp2
 intron_variant MODIFIER c.911-1634G>T
c.911-1634G>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1641169
chrX:1641174
T
T
 C
C
 11 a0001c0001t0001g0006
a0001c0001t0001g0043
a0001c0001t0001g0121
others(8): Show 
a0001c0001t0001g0006
a0001c0001t0001g0043
a0001c0001t0001g0121
a0001c0001t0001g0204
a0001c0001t0001g0209
a0001c0001t0002g0135
a0001c0001t0002g0218
a0002c0002t0001g0042
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0124
 11 HG00741.hp1
HG01361.hp1
HG01516.hp1
others(8): Show 
HG00741.hp1
HG01361.hp1
HG01516.hp1
HG01517.hp1
HG02615.hp2
HG02630.hp1
HG02809.hp2
HG02976.hp2
HG03041.hp2
HG03540.hp1
NA18942.hp2
 intron_variant MODIFIER c.911-1629T>C
c.911-1629T>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1641174
chrX:1641178
G
G
 A
A
 2 a0001c0001t0001g0006
a0001c0001t0002g0135
a0001c0001t0001g0006
a0001c0001t0002g0135
 2 HG02615.hp2
HG03540.hp1
HG02615.hp2
HG03540.hp1
 intron_variant MODIFIER c.911-1625G>A
c.911-1625G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1641178
chrX:1641179
A
A
 G
G
 12 a0001c0001t0001g0006
a0001c0001t0001g0097
a0001c0001t0002g0135
others(9): Show 
a0001c0001t0001g0006
a0001c0001t0001g0097
a0001c0001t0002g0135
a0001c0001t0002g0184
a0001c0001t0002g0218
a0001c0003t0001g0070
a0001c0003t0002g0142
a0001c0003t0002g0150
a0002c0002t0001g0003
a0002c0002t0001g0098
a0002c0002t0001g0130
a0002c0002t0002g0166
 12 HG00741.hp1
HG01346.hp1
HG01884.hp2
others(9): Show 
HG00741.hp1
HG01346.hp1
HG01884.hp2
HG02080.hp1
HG02280.hp2
HG02615.hp2
HG03491.hp1
HG03540.hp1
NA18949.hp2
NA19003.hp2
NA19010.hp2
NA19064.hp2
 intron_variant MODIFIER c.911-1624A>G
c.911-1624A>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1641179
chrX:1641185
CCT
CCT
 C
C
 2 a0001c0001t0001g0006
a0001c0001t0002g0135
a0001c0001t0001g0006
a0001c0001t0002g0135
 2 HG02615.hp2
HG03540.hp1
HG02615.hp2
HG03540.hp1
 intron_variant MODIFIER c.911-1615_911-1614d
others(4): Show 
c.911-1615_911-1614delCT
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 INFO_REALIGN_3_PRIME chrX 1641185
chrX:1641187
T
T
 G
G
 6 a0001c0001t0001g0121
a0001c0001t0002g0195
a0002c0002t0001g0042
others(3): Show 
a0001c0001t0001g0121
a0001c0001t0002g0195
a0002c0002t0001g0042
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0124
 6 HG01361.hp1
HG01516.hp1
HG01517.hp1
others(3): Show 
HG01361.hp1
HG01516.hp1
HG01517.hp1
HG03041.hp2
HG03704.hp2
NA18942.hp2
 intron_variant MODIFIER c.911-1616T>G
c.911-1616T>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1641187
chrX:1641188
CTG
CTG
 C
C
 1 a0001c0001t0002g0218
a0001c0001t0002g0218
 1 HG00741.hp1
HG00741.hp1
 intron_variant MODIFIER c.911-1606_911-1605d
others(4): Show 
c.911-1606_911-1605delTG
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 INFO_REALIGN_3_PRIME chrX 1641188
chrX:1641190
G
G
 C
C
 6 a0001c0001t0001g0121
a0001c0001t0002g0195
a0002c0002t0001g0042
others(3): Show 
a0001c0001t0001g0121
a0001c0001t0002g0195
a0002c0002t0001g0042
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0124
 6 HG01361.hp1
HG01516.hp1
HG01517.hp1
others(3): Show 
HG01361.hp1
HG01516.hp1
HG01517.hp1
HG03041.hp2
HG03704.hp2
NA18942.hp2
 intron_variant MODIFIER c.911-1613G>C
c.911-1613G>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1641190
chrX:1641196
G
G
 A
A
 4 a0001c0001t0001g0083
a0001c0001t0002g0218
a0002c0002t0001g0078
others(1): Show 
a0001c0001t0001g0083
a0001c0001t0002g0218
a0002c0002t0001g0078
a0002c0002t0001g0088
 4 HG00741.hp1
HG01081.hp1
HG02257.hp2
others(1): Show 
HG00741.hp1
HG01081.hp1
HG02257.hp2
HG03927.hp1
 intron_variant MODIFIER c.911-1607G>A
c.911-1607G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1641196
chrX:1641208
GTGTCCCA
others(158): Show 
GTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATG
TGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGT
GAGGTCCACCCATCCTGATGATCCATTAGGATGTGGACACAGCCTCTGTG
TGTGTGATAGGGACCA
 G
G
 6 a0001c0001t0002g0161
a0001c0003t0002g0150
a0002c0002t0001g0098
others(3): Show 
a0001c0001t0002g0161
a0001c0003t0002g0150
a0002c0002t0001g0098
a0002c0002t0001g0151
a0002c0002t0002g0166
a0002c0002t0002g0172
 6 HG01346.hp1
HG02080.hp1
NA18954.hp2
others(3): Show 
HG01346.hp1
HG02080.hp1
NA18954.hp2
NA19010.hp2
NA19057.hp1
NA19057.hp2
 intron_variant MODIFIER c.911-1575_911-1411d
others(2): Show 
c.911-1575_911-1411del
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 INFO_REALIGN_3_PRIME chrX 1641208
chrX:1641216
G
G
 GC
GC
 3 a0001c0001t0001g0097
a0001c0001t0001g0121
a0001c0001t0002g0195
a0001c0001t0001g0097
a0001c0001t0001g0121
a0001c0001t0002g0195
 3 HG03041.hp2
HG03704.hp2
NA19064.hp2
HG03041.hp2
HG03704.hp2
NA19064.hp2
 intron_variant MODIFIER c.911-1587_911-1586i
others(3): Show 
c.911-1587_911-1586insC
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1641216
chrX:1641218
G
G
 C
C
 3 a0001c0001t0001g0097
a0001c0001t0001g0121
a0001c0001t0002g0195
a0001c0001t0001g0097
a0001c0001t0001g0121
a0001c0001t0002g0195
 3 HG03041.hp2
HG03704.hp2
NA19064.hp2
HG03041.hp2
HG03704.hp2
NA19064.hp2
 intron_variant MODIFIER c.911-1585G>C
c.911-1585G>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1641218
chrX:1641218
GTCCTGTG
others(324): Show 
GTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGC
CTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACC
CATCCTGATGATCCATTAGGATGTGGACACAGCCTCTGTGTGTGTGATAG
GGACCATGTCCCAGTGTCCTGTGAGGTCCACCTATCCTGATGGTCCATGA
GGATGTGGACACAGCCGCTCTGTGTGTGATGGGGACAGTGTCCCAGCTCT
CCTGTGAGGTCCATCCATCCTGATGGTTCATGGGGACGTGAGCACAGCCT
CTGTGTGTGTGTTGGGGACAGTGTCCCAGTTC
 G
G
 1 a0002c0002t0001g0020
a0002c0002t0001g0020
 1 HG02280.hp1
HG02280.hp1
 intron_variant MODIFIER c.911-1575_911-1245d
others(2): Show 
c.911-1575_911-1245del
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 INFO_REALIGN_3_PRIME chrX 1641218
chrX:1641228
A
A
 G
G
 83 a0001c0001t0001g0005
a0001c0001t0001g0006
a0001c0001t0001g0012
others(80): Show 
a0001c0001t0001g0005
a0001c0001t0001g0006
a0001c0001t0001g0012
a0001c0001t0001g0014
a0001c0001t0001g0017
a0001c0001t0001g0019
a0001c0001t0001g0021
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0043
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0053
a0001c0001t0001g0072
a0001c0001t0001g0079
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0097
a0001c0001t0001g0105
a0001c0001t0001g0106
a0001c0001t0001g0110
a0001c0001t0001g0114
a0001c0001t0001g0121
a0001c0001t0001g0123
a0001c0001t0001g0137
a0001c0001t0001g0158
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0209
a0001c0001t0001g0212
a0001c0001t0002g0135
a0001c0001t0002g0152
a0001c0001t0002g0170
a0001c0001t0002g0184
a0001c0001t0002g0195
a0001c0001t0002g0200
a0001c0003t0001g0013
a0001c0003t0001g0023
a0001c0003t0001g0033
a0001c0003t0001g0038
a0001c0003t0001g0051
a0001c0003t0001g0059
a0001c0003t0001g0062
a0001c0003t0001g0070
a0001c0003t0001g0091
a0001c0003t0001g0093
a0001c0003t0001g0094
a0001c0003t0002g0142
a0001c0003t0002g0149
a0001c0003t0002g0173
a0002c0002t0001g0002
a0002c0002t0001g0003
a0002c0002t0001g0015
a0002c0002t0001g0042
a0002c0002t0001g0087
a0002c0002t0001g0095
a0002c0002t0001g0099
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0122
a0002c0002t0001g0124
a0002c0002t0001g0126
a0002c0002t0001g0130
a0002c0002t0001g0220
a0002c0002t0001g0221
a0002c0002t0002g0096
a0002c0002t0002g0136
a0002c0002t0002g0159
a0002c0002t0002g0188
a0002c0002t0002g0198
a0002c0002t0002g0199
a0002c0002t0002g0213
a0002c0006t0001g0104
a0002c0006t0001g0187
a0003c0005t0001g0004
a0003c0005t0001g0202
a0005c0016t0001g0045
a0007c0012t0001g0109
a0009c0014t0002g0075
a0013c0017t0001g0111
a0014c0018t0001g0060
 83 HG00423.hp2
HG00438.hp2
HG00544.hp1
others(80): Show 
HG00423.hp2
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp2
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01123.hp2
HG01168.hp1
HG01175.hp1
HG01257.hp1
HG01257.hp2
HG01361.hp1
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01884.hp2
HG01891.hp2
HG01975.hp1
HG01993.hp2
HG02155.hp2
HG02165.hp2
HG02257.hp1
HG02280.hp2
HG02523.hp1
HG02615.hp2
HG02630.hp1
HG02683.hp2
HG02723.hp1
HG02809.hp1
HG02809.hp2
HG02896.hp2
HG02922.hp1
HG02976.hp2
HG03041.hp2
HG03195.hp1
HG03195.hp2
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03486.hp1
HG03491.hp1
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG04184.hp1
HG06807.hp1
NA18942.hp2
NA18949.hp1
NA18949.hp2
NA18951.hp1
NA18955.hp1
NA18963.hp1
NA18963.hp2
NA18968.hp2
NA18969.hp1
NA18973.hp2
NA18975.hp1
NA18980.hp2
NA18981.hp1
NA18986.hp2
NA18988.hp1
NA18992.hp1
NA18998.hp1
NA18999.hp1
NA19002.hp2
NA19003.hp2
NA19030.hp1
NA19064.hp2
NA19065.hp2
NA19077.hp1
NA19077.hp2
NA19080.hp1
NA19085.hp1
NA19091.hp1
NA20300.hp1
NA20300.hp2
 intron_variant MODIFIER c.911-1575A>G
c.911-1575A>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1641228
chrX:1641233
T
T
 C
C
 5 a0001c0001t0002g0184
a0001c0003t0001g0070
a0002c0002t0001g0116
others(2): Show 
a0001c0001t0002g0184
a0001c0003t0001g0070
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0124
 5 HG01361.hp1
HG01516.hp1
HG01517.hp1
others(2): Show 
HG01361.hp1
HG01516.hp1
HG01517.hp1
HG01884.hp2
HG02280.hp2
 intron_variant MODIFIER c.911-1570T>C
c.911-1570T>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1641233
chrX:1641235
C
C
 T
T
 3 a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0124
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0124
 3 HG01361.hp1
HG01516.hp1
HG01517.hp1
HG01361.hp1
HG01516.hp1
HG01517.hp1
 intron_variant MODIFIER c.911-1568C>T
c.911-1568C>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1641235
chrX:1641236
C
C
 A
A
 17 a0001c0001t0001g0053
a0001c0001t0001g0083
a0001c0001t0001g0097
others(14): Show 
a0001c0001t0001g0053
a0001c0001t0001g0083
a0001c0001t0001g0097
a0001c0001t0001g0121
a0001c0001t0001g0206
a0001c0001t0002g0184
a0001c0001t0002g0195
a0001c0001t0002g0218
a0001c0003t0001g0062
a0001c0003t0001g0070
a0002c0002t0001g0078
a0002c0002t0001g0088
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0124
a0002c0002t0002g0160
a0002c0002t0002g0198
 17 HG00741.hp1
HG01081.hp1
HG01123.hp2
others(14): Show 
HG00741.hp1
HG01081.hp1
HG01123.hp2
HG01257.hp1
HG01361.hp1
HG01516.hp1
HG01517.hp1
HG01884.hp2
HG01975.hp1
HG02257.hp2
HG02280.hp2
HG03041.hp2
HG03516.hp2
HG03704.hp2
HG03927.hp1
NA18951.hp1
NA19064.hp2
 intron_variant MODIFIER c.911-1567C>A
c.911-1567C>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1641236
chrX:1641242
A
A
 G
G
 2 a0001c0001t0002g0184
a0001c0003t0001g0070
a0001c0001t0002g0184
a0001c0003t0001g0070
 2 HG01884.hp2
HG02280.hp2
HG01884.hp2
HG02280.hp2
 intron_variant MODIFIER c.911-1561A>G
c.911-1561A>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1641242
chrX:1641246
T
T
 C
C
 10 a0001c0001t0001g0053
a0001c0001t0001g0097
a0001c0001t0001g0206
others(7): Show 
a0001c0001t0001g0053
a0001c0001t0001g0097
a0001c0001t0001g0206
a0001c0003t0001g0062
a0002c0002t0001g0078
a0002c0002t0001g0088
a0002c0002t0002g0160
a0002c0002t0002g0191
a0002c0002t0002g0198
a0002c0006t0001g0187
 10 HG00544.hp2
HG01081.hp1
HG01123.hp2
others(7): Show 
HG00544.hp2
HG01081.hp1
HG01123.hp2
HG01257.hp1
HG01517.hp2
HG01975.hp1
HG03516.hp2
HG03927.hp1
NA18951.hp1
NA19064.hp2
 intron_variant MODIFIER c.911-1557T>C
c.911-1557T>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1641246
chrX:1641247
T
T
 A
A
 10 a0001c0001t0001g0053
a0001c0001t0001g0097
a0001c0001t0001g0206
others(7): Show 
a0001c0001t0001g0053
a0001c0001t0001g0097
a0001c0001t0001g0206
a0001c0003t0001g0062
a0002c0002t0001g0078
a0002c0002t0001g0088
a0002c0002t0002g0160
a0002c0002t0002g0191
a0002c0002t0002g0198
a0002c0006t0001g0187
 10 HG00544.hp2
HG01081.hp1
HG01123.hp2
others(7): Show 
HG00544.hp2
HG01081.hp1
HG01123.hp2
HG01257.hp1
HG01517.hp2
HG01975.hp1
HG03516.hp2
HG03927.hp1
NA18951.hp1
NA19064.hp2
 intron_variant MODIFIER c.911-1556T>A
c.911-1556T>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1641247
chrX:1641247
T
T
 C
C
 5 a0001c0001t0002g0184
a0001c0003t0001g0070
a0002c0002t0001g0116
others(2): Show 
a0001c0001t0002g0184
a0001c0003t0001g0070
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0124
 5 HG01361.hp1
HG01516.hp1
HG01517.hp1
others(2): Show 
HG01361.hp1
HG01516.hp1
HG01517.hp1
HG01884.hp2
HG02280.hp2
 intron_variant MODIFIER c.911-1556T>C
c.911-1556T>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1641247
chrX:1641251
G
G
 T
T
 1 a0001c0001t0002g0196
a0001c0001t0002g0196
 1 HG01123.hp1
HG01123.hp1
 intron_variant MODIFIER c.911-1552G>T
c.911-1552G>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1641251
chrX:1641252
A
A
 G
G
 1 a0001c0001t0002g0195
a0001c0001t0002g0195
 1 HG03704.hp2
HG03704.hp2
 intron_variant MODIFIER c.911-1551A>G
c.911-1551A>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1641252
chrX:1641254
G
G
 T
T
 2 a0001c0001t0002g0184
a0001c0003t0001g0070
a0001c0001t0002g0184
a0001c0003t0001g0070
 2 HG01884.hp2
HG02280.hp2
HG01884.hp2
HG02280.hp2
 intron_variant MODIFIER c.911-1549G>T
c.911-1549G>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1641254
chrX:1641256
T
T
 C
C
 8 a0001c0001t0001g0121
a0001c0001t0002g0184
a0001c0001t0002g0195
others(5): Show 
a0001c0001t0001g0121
a0001c0001t0002g0184
a0001c0001t0002g0195
a0001c0003t0001g0070
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0124
a0002c0010t0001g0010
 8 HG01361.hp1
HG01516.hp1
HG01517.hp1
others(5): Show 
HG01361.hp1
HG01516.hp1
HG01517.hp1
HG01884.hp2
HG02280.hp2
HG02622.hp2
HG03041.hp2
HG03704.hp2
 intron_variant MODIFIER c.911-1547T>C
c.911-1547T>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1641256
chrX:1641257
G
G
 A
A
 2 a0001c0001t0002g0184
a0001c0003t0001g0070
a0001c0001t0002g0184
a0001c0003t0001g0070
 2 HG01884.hp2
HG02280.hp2
HG01884.hp2
HG02280.hp2
 intron_variant MODIFIER c.911-1546G>A
c.911-1546G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1641257
chrX:1641260
G
G
 A
A
 2 a0001c0001t0001g0121
a0001c0001t0002g0195
a0001c0001t0001g0121
a0001c0001t0002g0195
 2 HG03041.hp2
HG03704.hp2
HG03041.hp2
HG03704.hp2
 intron_variant MODIFIER c.911-1543G>A
c.911-1543G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1641260
chrX:1641261
G
G
 A
A
 5 a0001c0001t0002g0184
a0001c0003t0001g0070
a0002c0002t0001g0116
others(2): Show 
a0001c0001t0002g0184
a0001c0003t0001g0070
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0124
 5 HG01361.hp1
HG01516.hp1
HG01517.hp1
others(2): Show 
HG01361.hp1
HG01516.hp1
HG01517.hp1
HG01884.hp2
HG02280.hp2
 intron_variant MODIFIER c.911-1542G>A
c.911-1542G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1641261
chrX:1641269
T
T
 G
G
 3 a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0124
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0124
 3 HG01361.hp1
HG01516.hp1
HG01517.hp1
HG01361.hp1
HG01516.hp1
HG01517.hp1
 intron_variant MODIFIER c.911-1534T>G
c.911-1534T>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1641269
chrX:1641272
G
G
 C
C
 5 a0001c0001t0002g0184
a0001c0003t0001g0070
a0002c0002t0001g0116
others(2): Show 
a0001c0001t0002g0184
a0001c0003t0001g0070
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0124
 5 HG01361.hp1
HG01516.hp1
HG01517.hp1
others(2): Show 
HG01361.hp1
HG01516.hp1
HG01517.hp1
HG01884.hp2
HG02280.hp2
 intron_variant MODIFIER c.911-1531G>C
c.911-1531G>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1641272
chrX:1641277
TGA
TGA
 T
T
 1 a0002c0002t0002g0096
a0002c0002t0002g0096
 1 NA18975.hp1
NA18975.hp1
 intron_variant MODIFIER c.911-1523_911-1522d
others(4): Show 
c.911-1523_911-1522delGA
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 INFO_REALIGN_3_PRIME chrX 1641277
chrX:1641279
A
A
 T
T
 5 a0001c0001t0001g0121
a0001c0001t0002g0195
a0002c0002t0001g0116
others(2): Show 
a0001c0001t0001g0121
a0001c0001t0002g0195
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0124
 5 HG01361.hp1
HG01516.hp1
HG01517.hp1
others(2): Show 
HG01361.hp1
HG01516.hp1
HG01517.hp1
HG03041.hp2
HG03704.hp2
 intron_variant MODIFIER c.911-1524A>T
c.911-1524A>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1641279
chrX:1641281
A
A
 T
T
 2 a0001c0001t0001g0121
a0001c0001t0002g0195
a0001c0001t0001g0121
a0001c0001t0002g0195
 2 HG03041.hp2
HG03704.hp2
HG03041.hp2
HG03704.hp2
 intron_variant MODIFIER c.911-1522A>T
c.911-1522A>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1641281
chrX:1641281
ATAGGGAC
others(241): Show 
ATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATC
CATTAGGATGTGGACACAGCCTCTGTGTGTGTGATAGGGACCATGTCCCA
GTGTCCTGTGAGGTCCACCTATCCTGATGGTCCATGAGGATGTGGACACA
GCCGCTCTGTGTGTGATGGGGACAGTGTCCCAGCTCTCCTGTGAGGTCCA
TCCATCCTGATGGTTCATGGGGACGTGAGCACAGCCTCTGTGTGTGTGT
 A
A
 2 a0001c0001t0002g0184
a0001c0003t0001g0070
a0001c0001t0002g0184
a0001c0003t0001g0070
 2 HG01884.hp2
HG02280.hp2
HG01884.hp2
HG02280.hp2
 intron_variant MODIFIER c.911-1520_911-1273d
others(2): Show 
c.911-1520_911-1273del
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 INFO_REALIGN_3_PRIME chrX 1641281
chrX:1641283
A
A
 G
G
 6 a0001c0001t0001g0121
a0001c0001t0002g0195
a0002c0002t0001g0116
others(3): Show 
a0001c0001t0001g0121
a0001c0001t0002g0195
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0124
a0002c0002t0002g0096
 6 HG01361.hp1
HG01516.hp1
HG01517.hp1
others(3): Show 
HG01361.hp1
HG01516.hp1
HG01517.hp1
HG03041.hp2
HG03704.hp2
NA18975.hp1
 intron_variant MODIFIER c.911-1520A>G
c.911-1520A>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1641283
chrX:1641289
C
C
 A
A
 6 a0001c0001t0001g0121
a0001c0001t0002g0195
a0002c0002t0001g0087
others(3): Show 
a0001c0001t0001g0121
a0001c0001t0002g0195
a0002c0002t0001g0087
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0124
 6 HG01168.hp1
HG01361.hp1
HG01516.hp1
others(3): Show 
HG01168.hp1
HG01361.hp1
HG01516.hp1
HG01517.hp1
HG03041.hp2
HG03704.hp2
 intron_variant MODIFIER c.911-1514C>A
c.911-1514C>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1641289
chrX:1641290
A
A
 G
G
 6 a0001c0001t0001g0121
a0001c0001t0002g0195
a0002c0002t0001g0087
others(3): Show 
a0001c0001t0001g0121
a0001c0001t0002g0195
a0002c0002t0001g0087
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0124
 6 HG01168.hp1
HG01361.hp1
HG01516.hp1
others(3): Show 
HG01168.hp1
HG01361.hp1
HG01516.hp1
HG01517.hp1
HG03041.hp2
HG03704.hp2
 intron_variant MODIFIER c.911-1513A>G
c.911-1513A>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1641290
chrX:1641299
C
C
 T
T
 2 a0001c0001t0001g0121
a0001c0001t0002g0195
a0001c0001t0001g0121
a0001c0001t0002g0195
 2 HG03041.hp2
HG03704.hp2
HG03041.hp2
HG03704.hp2
 intron_variant MODIFIER c.911-1504C>T
c.911-1504C>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1641299
chrX:1641316
C
C
 T
T
 3 a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0124
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0124
 3 HG01361.hp1
HG01516.hp1
HG01517.hp1
HG01361.hp1
HG01516.hp1
HG01517.hp1
 intron_variant MODIFIER c.911-1487C>T
c.911-1487C>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1641316
chrX:1641328
A
A
 G
G
 5 a0001c0001t0001g0121
a0001c0001t0002g0195
a0002c0002t0001g0116
others(2): Show 
a0001c0001t0001g0121
a0001c0001t0002g0195
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0124
 5 HG01361.hp1
HG01516.hp1
HG01517.hp1
others(2): Show 
HG01361.hp1
HG01516.hp1
HG01517.hp1
HG03041.hp2
HG03704.hp2
 intron_variant MODIFIER c.911-1475A>G
c.911-1475A>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1641328
chrX:1641330
C
C
 T
T
 5 a0001c0001t0001g0121
a0001c0001t0002g0195
a0002c0002t0001g0116
others(2): Show 
a0001c0001t0001g0121
a0001c0001t0002g0195
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0124
 5 HG01361.hp1
HG01516.hp1
HG01517.hp1
others(2): Show 
HG01361.hp1
HG01516.hp1
HG01517.hp1
HG03041.hp2
HG03704.hp2
 intron_variant MODIFIER c.911-1473C>T
c.911-1473C>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1641330
chrX:1641334
T
T
 G
G
 45 a0001c0001t0001g0001
a0001c0001t0001g0014
a0001c0001t0001g0017
others(42): Show 
a0001c0001t0001g0001
a0001c0001t0001g0014
a0001c0001t0001g0017
a0001c0001t0001g0019
a0001c0001t0001g0021
a0001c0001t0001g0025
a0001c0001t0001g0058
a0001c0001t0001g0061
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0068
a0001c0001t0001g0077
a0001c0001t0001g0114
a0001c0001t0001g0121
a0001c0001t0002g0120
a0001c0001t0002g0167
a0001c0001t0002g0170
a0001c0001t0002g0176
a0001c0001t0002g0195
a0001c0003t0001g0030
a0001c0003t0001g0038
a0001c0003t0001g0093
a0001c0003t0001g0113
a0002c0002t0001g0002
a0002c0002t0001g0052
a0002c0002t0001g0055
a0002c0002t0001g0066
a0002c0002t0001g0087
a0002c0002t0001g0089
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0124
a0002c0002t0001g0125
a0002c0002t0001g0127
a0002c0002t0001g0185
a0002c0002t0001g0220
a0002c0002t0001g0222
a0002c0002t0002g0131
a0002c0002t0002g0146
a0002c0002t0002g0156
a0002c0002t0002g0162
a0002c0002t0002g0163
a0002c0006t0001g0187
a0004c0004t0001g0169
a0011c0008t0001g0034
 46 HG00423.hp1
HG00438.hp1
HG00544.hp1
others(43): Show 
HG00423.hp1
HG00438.hp1
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00733.hp1
HG00733.hp2
HG00741.hp2
HG01081.hp2
HG01168.hp1
HG01346.hp2
HG01361.hp1
HG01516.hp1
HG01517.hp1
HG01981.hp1
HG02004.hp2
HG02080.hp2
HG02148.hp2
HG02293.hp2
HG02523.hp2
HG02559.hp1
HG03041.hp2
HG03195.hp1
HG03453.hp1
HG03704.hp2
HG03834.hp2
HG03927.hp2
HG04204.hp2
HG06807.hp1
NA18939.hp2
NA18942.hp1
NA18947.hp1
NA18956.hp1
NA18969.hp2
NA18975.hp2
NA18981.hp2
NA18986.hp2
NA18998.hp1
NA19062.hp1
NA19064.hp1
NA19065.hp2
NA19074.hp1
NA19077.hp1
NA19081.hp1
NA19240.hp1
NA20300.hp1
 intron_variant MODIFIER c.911-1469T>G
c.911-1469T>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1641334
chrX:1641339
T
T
 C
C
 11 a0001c0001t0001g0001
a0002c0002t0001g0052
a0002c0002t0001g0087
others(8): Show 
a0001c0001t0001g0001
a0002c0002t0001g0052
a0002c0002t0001g0087
a0002c0002t0001g0089
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0124
a0002c0002t0001g0127
a0002c0002t0001g0222
a0002c0006t0001g0187
a0011c0008t0001g0034
 12 HG00544.hp2
HG00733.hp1
HG01168.hp1
others(9): Show 
HG00544.hp2
HG00733.hp1
HG01168.hp1
HG01361.hp1
HG01516.hp1
HG01517.hp1
HG02293.hp2
HG02523.hp2
HG02559.hp1
NA18939.hp2
NA19062.hp1
NA19240.hp1
 intron_variant MODIFIER c.911-1464T>C
c.911-1464T>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1641339
chrX:1641343
G
G
 A
A
 3 a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0124
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0124
 3 HG01361.hp1
HG01516.hp1
HG01517.hp1
HG01361.hp1
HG01516.hp1
HG01517.hp1
 intron_variant MODIFIER c.911-1460G>A
c.911-1460G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1641343
chrX:1641344
A
A
 G
G
 61 a0001c0001t0001g0012
a0001c0001t0001g0014
a0001c0001t0001g0017
others(58): Show 
a0001c0001t0001g0012
a0001c0001t0001g0014
a0001c0001t0001g0017
a0001c0001t0001g0019
a0001c0001t0001g0021
a0001c0001t0001g0028
a0001c0001t0001g0043
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0053
a0001c0001t0001g0072
a0001c0001t0001g0079
a0001c0001t0001g0081
a0001c0001t0001g0083
a0001c0001t0001g0097
a0001c0001t0001g0105
a0001c0001t0001g0106
a0001c0001t0001g0110
a0001c0001t0001g0121
a0001c0001t0001g0137
a0001c0001t0001g0158
a0001c0001t0001g0174
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0209
a0001c0001t0002g0152
a0001c0001t0002g0170
a0001c0001t0002g0195
a0001c0001t0002g0200
a0001c0003t0001g0023
a0001c0003t0001g0050
a0001c0003t0001g0062
a0001c0003t0002g0173
a0002c0002t0001g0002
a0002c0002t0001g0003
a0002c0002t0001g0015
a0002c0002t0001g0042
a0002c0002t0001g0095
a0002c0002t0001g0099
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0122
a0002c0002t0001g0124
a0002c0002t0001g0130
a0002c0002t0001g0221
a0002c0002t0002g0096
a0002c0002t0002g0136
a0002c0002t0002g0159
a0002c0002t0002g0188
a0002c0002t0002g0198
a0002c0002t0002g0199
a0002c0002t0002g0213
a0003c0005t0001g0004
a0003c0005t0001g0202
a0005c0016t0001g0045
a0006c0011t0001g0139
a0009c0014t0002g0075
a0013c0017t0001g0111
 61 HG00423.hp2
HG00741.hp2
HG01070.hp1
others(58): Show 
HG00423.hp2
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01123.hp2
HG01175.hp1
HG01257.hp1
HG01361.hp1
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01975.hp1
HG01993.hp2
HG02155.hp2
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02451.hp2
HG02523.hp1
HG02559.hp2
HG02630.hp1
HG02683.hp2
HG02723.hp1
HG02809.hp2
HG02896.hp2
HG02922.hp1
HG02976.hp2
HG03041.hp2
HG03195.hp1
HG03195.hp2
HG03453.hp1
HG03453.hp2
HG03486.hp1
HG03516.hp1
HG03540.hp2
HG03669.hp1
HG03704.hp1
HG03704.hp2
HG04184.hp2
HG06807.hp1
NA18942.hp2
NA18949.hp1
NA18949.hp2
NA18951.hp1
NA18955.hp1
NA18973.hp2
NA18975.hp1
NA18981.hp1
NA18992.hp1
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA19003.hp2
NA19030.hp1
NA19064.hp2
NA19077.hp2
NA19080.hp1
NA19091.hp1
NA20300.hp1
NA20300.hp2
 intron_variant MODIFIER c.911-1459A>G
c.911-1459A>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1641344
chrX:1641344
ACACAGCC
others(903): Show 
ACACAGCCTCTGTGTGTGTGATAGGGACCATGTCCCAGTGTCCTGTGAGG
TCCACCTATCCTGATGGTCCATGAGGATGTGGACACAGCCGCTCTGTGTG
TGATGGGGACAGTGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGG
TTCATGGGGACGTGAGCACAGCCTCTGTGTGTGTGTTGGGGACAGTGTCC
CAGTTCTCCTGTGAGGTCCACCCATCCTGATGGTTCATGAGGATGTGGGC
ACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGGTC
CACCCATCCTGGTGGTCCATGAGTACATGGACACAGCCTCTCTGTGTGAG
ATGGGGACAGTGTCCCAGTTCTCCTGTGAGGTCCACCCATCCTGGTGGTC
CATGAGTACATGGACACAGCCTCTCTGTGTGTGATAAGGACAGTGTTCCA
GCTCTCCTGTGAGGTCCACCCATCTTGATGGTTCATGAGGACTTGGGCAT
GGCCTCTATGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGGTCCA
CCCATCCTGATGGTCCATGAGGATGTGGGCACAACCTCTTTGTGTGTGAT
GGGGACAGTGTCCCAGTGTCTGTGAGGTCCACCCATCCGATGGTTCATGA
GGACGTGGGCACAGCCTCTGTGTGTAATGGGGATAGCATCCCAGTGTCCT
GTGAGGTCCATCCATCCTGATGGCCCATGAGGATGTGGGCACAGCCTCTG
TGTGTGTGTGTGTGATGGGGACGGTGTCCCAGTTCTCCTGTGAGGTCCAC
CCATCCTGATGGTCCATGAGGACATGGGCACAGCCTCTCTGTGTGTGATA
AGGACAGTGTTCCAGCTCTCCTGTGAGGTCCACCCATCTTGATGGTTCAT
GAGGACTTGGG
 A
A
 1 a0002c0010t0001g0010
a0002c0010t0001g0010
 1 HG02622.hp2
HG02622.hp2
 intron_variant MODIFIER c.911-1437_911-528de
others(1): Show 
c.911-1437_911-528del
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 INFO_REALIGN_3_PRIME chrX 1641344
chrX:1641352
T
T
 G
G
 7 a0002c0002t0001g0052
a0002c0002t0001g0087
a0002c0002t0001g0089
others(4): Show 
a0002c0002t0001g0052
a0002c0002t0001g0087
a0002c0002t0001g0089
a0002c0002t0001g0127
a0002c0002t0001g0222
a0002c0006t0001g0187
a0011c0008t0001g0034
 7 HG00544.hp2
HG00733.hp1
HG01168.hp1
others(4): Show 
HG00544.hp2
HG00733.hp1
HG01168.hp1
HG02293.hp2
HG02523.hp2
NA18939.hp2
NA19062.hp1
 intron_variant MODIFIER c.911-1451T>G
c.911-1451T>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1641352
chrX:1641355
G
G
 C
C
 7 a0002c0002t0001g0052
a0002c0002t0001g0087
a0002c0002t0001g0089
others(4): Show 
a0002c0002t0001g0052
a0002c0002t0001g0087
a0002c0002t0001g0089
a0002c0002t0001g0127
a0002c0002t0001g0222
a0002c0006t0001g0187
a0011c0008t0001g0034
 7 HG00544.hp2
HG00733.hp1
HG01168.hp1
others(4): Show 
HG00544.hp2
HG00733.hp1
HG01168.hp1
HG02293.hp2
HG02523.hp2
NA18939.hp2
NA19062.hp1
 intron_variant MODIFIER c.911-1448G>C
c.911-1448G>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1641355
chrX:1641362
T
T
 A
A
 28 a0001c0001t0001g0012
a0001c0001t0001g0014
a0001c0001t0001g0017
others(25): Show 
a0001c0001t0001g0012
a0001c0001t0001g0014
a0001c0001t0001g0017
a0001c0001t0001g0019
a0001c0001t0001g0021
a0001c0001t0001g0049
a0001c0001t0001g0081
a0001c0001t0001g0110
a0001c0001t0001g0158
a0001c0001t0001g0203
a0001c0003t0001g0050
a0001c0003t0002g0173
a0002c0002t0001g0002
a0002c0002t0001g0015
a0002c0002t0001g0042
a0002c0002t0001g0095
a0002c0002t0001g0122
a0002c0002t0001g0221
a0002c0002t0002g0096
a0002c0002t0002g0136
a0002c0002t0002g0159
a0002c0002t0002g0188
a0002c0002t0002g0213
a0003c0005t0001g0202
a0005c0016t0001g0045
a0006c0011t0001g0139
a0009c0014t0002g0075
a0013c0017t0001g0111
 28 HG00423.hp2
HG00741.hp2
HG01070.hp2
others(25): Show 
HG00423.hp2
HG00741.hp2
HG01070.hp2
HG02155.hp2
HG02165.hp2
HG02257.hp1
HG02451.hp2
HG02523.hp1
HG02559.hp2
HG02683.hp2
HG02896.hp2
HG02922.hp1
HG03195.hp1
HG03195.hp2
HG03453.hp1
HG03486.hp1
HG03516.hp1
HG03540.hp2
HG03669.hp1
HG04184.hp2
HG06807.hp1
NA18942.hp2
NA18975.hp1
NA18981.hp1
NA18992.hp1
NA19030.hp1
NA19080.hp1
NA20300.hp1
 intron_variant MODIFIER c.911-1441T>A
c.911-1441T>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1641362
chrX:1641364
A
A
 T
T
 3 a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0124
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0124
 3 HG01361.hp1
HG01516.hp1
HG01517.hp1
HG01361.hp1
HG01516.hp1
HG01517.hp1
 intron_variant MODIFIER c.911-1439A>T
c.911-1439A>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1641364
chrX:1641366
A
A
 G
G
 83 a0001c0001t0001g0001
a0001c0001t0001g0005
a0001c0001t0001g0025
others(80): Show 
a0001c0001t0001g0001
a0001c0001t0001g0005
a0001c0001t0001g0025
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0043
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0061
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0068
a0001c0001t0001g0072
a0001c0001t0001g0077
a0001c0001t0001g0079
a0001c0001t0001g0082
a0001c0001t0001g0097
a0001c0001t0001g0105
a0001c0001t0001g0106
a0001c0001t0001g0114
a0001c0001t0001g0121
a0001c0001t0001g0123
a0001c0001t0001g0137
a0001c0001t0001g0174
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0209
a0001c0001t0001g0212
a0001c0001t0001g0214
a0001c0001t0002g0120
a0001c0001t0002g0167
a0001c0001t0002g0170
a0001c0001t0002g0176
a0001c0001t0002g0195
a0001c0001t0002g0200
a0001c0003t0001g0013
a0001c0003t0001g0023
a0001c0003t0001g0030
a0001c0003t0001g0033
a0001c0003t0001g0038
a0001c0003t0001g0051
a0001c0003t0001g0059
a0001c0003t0001g0062
a0001c0003t0001g0091
a0001c0003t0001g0093
a0001c0003t0001g0094
a0001c0003t0001g0113
a0001c0003t0002g0149
a0002c0002t0001g0003
a0002c0002t0001g0052
a0002c0002t0001g0055
a0002c0002t0001g0066
a0002c0002t0001g0074
a0002c0002t0001g0087
a0002c0002t0001g0089
a0002c0002t0001g0099
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0124
a0002c0002t0001g0125
a0002c0002t0001g0126
a0002c0002t0001g0127
a0002c0002t0001g0130
a0002c0002t0001g0185
a0002c0002t0001g0220
a0002c0002t0001g0222
a0002c0002t0002g0131
a0002c0002t0002g0146
a0002c0002t0002g0156
a0002c0002t0002g0162
a0002c0002t0002g0163
a0002c0002t0002g0198
a0002c0002t0002g0199
a0002c0006t0001g0104
a0002c0006t0001g0187
a0003c0005t0001g0004
a0004c0004t0001g0169
a0007c0012t0001g0109
a0011c0008t0001g0034
a0014c0018t0001g0060
 84 HG00423.hp1
HG00438.hp1
HG00438.hp2
others(81): Show 
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00597.hp2
HG00733.hp1
HG00733.hp2
HG01070.hp1
HG01071.hp1
HG01081.hp2
HG01123.hp2
HG01168.hp1
HG01175.hp1
HG01257.hp1
HG01257.hp2
HG01346.hp2
HG01361.hp1
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01891.hp2
HG01975.hp1
HG01981.hp1
HG01993.hp2
HG02004.hp2
HG02080.hp2
HG02148.hp2
HG02293.hp2
HG02523.hp2
HG02559.hp1
HG02622.hp1
HG02630.hp1
HG02723.hp1
HG02809.hp1
HG02809.hp2
HG02976.hp2
HG03041.hp2
HG03239.hp2
HG03453.hp2
HG03669.hp2
HG03704.hp2
HG03834.hp2
HG03927.hp2
HG04184.hp1
HG04204.hp2
NA18939.hp2
NA18942.hp1
NA18947.hp1
NA18949.hp1
NA18949.hp2
NA18951.hp1
NA18955.hp1
NA18956.hp1
NA18963.hp1
NA18963.hp2
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18973.hp2
NA18975.hp2
NA18980.hp2
NA18981.hp2
NA18986.hp2
NA18988.hp1
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA19002.hp2
NA19003.hp2
NA19062.hp1
NA19064.hp1
NA19064.hp2
NA19065.hp2
NA19074.hp1
NA19077.hp1
NA19077.hp2
NA19081.hp1
NA19085.hp1
NA19091.hp1
NA19240.hp1
NA20300.hp2
NA21309.hp1
 intron_variant MODIFIER c.911-1437A>G
c.911-1437A>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1641366
chrX:1641372
C
C
 A
A
 81 a0001c0001t0001g0001
a0001c0001t0001g0005
a0001c0001t0001g0025
others(78): Show 
a0001c0001t0001g0001
a0001c0001t0001g0005
a0001c0001t0001g0025
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0043
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0061
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0068
a0001c0001t0001g0072
a0001c0001t0001g0077
a0001c0001t0001g0079
a0001c0001t0001g0082
a0001c0001t0001g0097
a0001c0001t0001g0105
a0001c0001t0001g0106
a0001c0001t0001g0114
a0001c0001t0001g0121
a0001c0001t0001g0123
a0001c0001t0001g0137
a0001c0001t0001g0174
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0209
a0001c0001t0001g0212
a0001c0001t0002g0120
a0001c0001t0002g0167
a0001c0001t0002g0170
a0001c0001t0002g0176
a0001c0001t0002g0195
a0001c0001t0002g0200
a0001c0003t0001g0013
a0001c0003t0001g0023
a0001c0003t0001g0030
a0001c0003t0001g0033
a0001c0003t0001g0038
a0001c0003t0001g0051
a0001c0003t0001g0059
a0001c0003t0001g0062
a0001c0003t0001g0091
a0001c0003t0001g0093
a0001c0003t0001g0094
a0001c0003t0001g0113
a0001c0003t0002g0149
a0002c0002t0001g0003
a0002c0002t0001g0052
a0002c0002t0001g0055
a0002c0002t0001g0066
a0002c0002t0001g0087
a0002c0002t0001g0089
a0002c0002t0001g0099
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0124
a0002c0002t0001g0125
a0002c0002t0001g0126
a0002c0002t0001g0127
a0002c0002t0001g0130
a0002c0002t0001g0185
a0002c0002t0001g0220
a0002c0002t0001g0222
a0002c0002t0002g0131
a0002c0002t0002g0146
a0002c0002t0002g0156
a0002c0002t0002g0162
a0002c0002t0002g0163
a0002c0002t0002g0198
a0002c0002t0002g0199
a0002c0006t0001g0104
a0002c0006t0001g0187
a0003c0005t0001g0004
a0004c0004t0001g0169
a0007c0012t0001g0109
a0011c0008t0001g0034
a0014c0018t0001g0060
 82 HG00423.hp1
HG00438.hp1
HG00438.hp2
others(79): Show 
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00597.hp2
HG00733.hp1
HG00733.hp2
HG01070.hp1
HG01071.hp1
HG01081.hp2
HG01123.hp2
HG01168.hp1
HG01175.hp1
HG01257.hp1
HG01257.hp2
HG01346.hp2
HG01361.hp1
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01891.hp2
HG01975.hp1
HG01981.hp1
HG01993.hp2
HG02004.hp2
HG02080.hp2
HG02148.hp2
HG02293.hp2
HG02523.hp2
HG02559.hp1
HG02630.hp1
HG02723.hp1
HG02809.hp1
HG02809.hp2
HG02976.hp2
HG03041.hp2
HG03239.hp2
HG03453.hp2
HG03669.hp2
HG03704.hp2
HG03834.hp2
HG03927.hp2
HG04184.hp1
HG04204.hp2
NA18939.hp2
NA18942.hp1
NA18947.hp1
NA18949.hp1
NA18949.hp2
NA18951.hp1
NA18955.hp1
NA18956.hp1
NA18963.hp1
NA18963.hp2
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18973.hp2
NA18975.hp2
NA18980.hp2
NA18981.hp2
NA18986.hp2
NA18988.hp1
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA19002.hp2
NA19003.hp2
NA19062.hp1
NA19064.hp1
NA19064.hp2
NA19065.hp2
NA19074.hp1
NA19077.hp1
NA19077.hp2
NA19081.hp1
NA19085.hp1
NA19091.hp1
NA19240.hp1
NA20300.hp2
 intron_variant MODIFIER c.911-1431C>A
c.911-1431C>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1641372
chrX:1641373
A
A
 G
G
 81 a0001c0001t0001g0001
a0001c0001t0001g0005
a0001c0001t0001g0025
others(78): Show 
a0001c0001t0001g0001
a0001c0001t0001g0005
a0001c0001t0001g0025
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0043
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0053
a0001c0001t0001g0058
a0001c0001t0001g0061
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0068
a0001c0001t0001g0072
a0001c0001t0001g0077
a0001c0001t0001g0079
a0001c0001t0001g0082
a0001c0001t0001g0097
a0001c0001t0001g0105
a0001c0001t0001g0106
a0001c0001t0001g0114
a0001c0001t0001g0121
a0001c0001t0001g0123
a0001c0001t0001g0137
a0001c0001t0001g0174
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0209
a0001c0001t0001g0212
a0001c0001t0002g0120
a0001c0001t0002g0167
a0001c0001t0002g0170
a0001c0001t0002g0176
a0001c0001t0002g0195
a0001c0001t0002g0200
a0001c0003t0001g0013
a0001c0003t0001g0023
a0001c0003t0001g0030
a0001c0003t0001g0033
a0001c0003t0001g0038
a0001c0003t0001g0051
a0001c0003t0001g0059
a0001c0003t0001g0062
a0001c0003t0001g0091
a0001c0003t0001g0093
a0001c0003t0001g0094
a0001c0003t0001g0113
a0001c0003t0002g0149
a0002c0002t0001g0003
a0002c0002t0001g0052
a0002c0002t0001g0055
a0002c0002t0001g0066
a0002c0002t0001g0087
a0002c0002t0001g0089
a0002c0002t0001g0099
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0124
a0002c0002t0001g0125
a0002c0002t0001g0126
a0002c0002t0001g0127
a0002c0002t0001g0130
a0002c0002t0001g0185
a0002c0002t0001g0220
a0002c0002t0001g0222
a0002c0002t0002g0131
a0002c0002t0002g0146
a0002c0002t0002g0156
a0002c0002t0002g0162
a0002c0002t0002g0163
a0002c0002t0002g0198
a0002c0002t0002g0199
a0002c0006t0001g0104
a0002c0006t0001g0187
a0003c0005t0001g0004
a0004c0004t0001g0169
a0007c0012t0001g0109
a0011c0008t0001g0034
a0014c0018t0001g0060
 82 HG00423.hp1
HG00438.hp1
HG00438.hp2
others(79): Show 
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00597.hp2
HG00733.hp1
HG00733.hp2
HG01070.hp1
HG01071.hp1
HG01081.hp2
HG01123.hp2
HG01168.hp1
HG01175.hp1
HG01257.hp1
HG01257.hp2
HG01346.hp2
HG01361.hp1
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01891.hp2
HG01975.hp1
HG01981.hp1
HG01993.hp2
HG02004.hp2
HG02080.hp2
HG02148.hp2
HG02293.hp2
HG02523.hp2
HG02559.hp1
HG02630.hp1
HG02723.hp1
HG02809.hp1
HG02809.hp2
HG02976.hp2
HG03041.hp2
HG03239.hp2
HG03453.hp2
HG03669.hp2
HG03704.hp2
HG03834.hp2
HG03927.hp2
HG04184.hp1
HG04204.hp2
NA18939.hp2
NA18942.hp1
NA18947.hp1
NA18949.hp1
NA18949.hp2
NA18951.hp1
NA18955.hp1
NA18956.hp1
NA18963.hp1
NA18963.hp2
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18973.hp2
NA18975.hp2
NA18980.hp2
NA18981.hp2
NA18986.hp2
NA18988.hp1
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA19002.hp2
NA19003.hp2
NA19062.hp1
NA19064.hp1
NA19064.hp2
NA19065.hp2
NA19074.hp1
NA19077.hp1
NA19077.hp2
NA19081.hp1
NA19085.hp1
NA19091.hp1
NA19240.hp1
NA20300.hp2
 intron_variant MODIFIER c.911-1430A>G
c.911-1430A>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1641373
chrX:1641381
G
G
 GT
GT
 3 a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0124
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0124
 3 HG01361.hp1
HG01516.hp1
HG01517.hp1
HG01361.hp1
HG01516.hp1
HG01517.hp1
 intron_variant MODIFIER c.911-1421dupT
c.911-1421dupT
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 INFO_REALIGN_3_PRIME chrX 1641381
chrX:1641383
G
G
 C
C
 3 a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0124
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0124
 3 HG01361.hp1
HG01516.hp1
HG01517.hp1
HG01361.hp1
HG01516.hp1
HG01517.hp1
 intron_variant MODIFIER c.911-1420G>C
c.911-1420G>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1641383
chrX:1641400
T
T
 C
C
 5 a0001c0001t0001g0121
a0001c0001t0002g0195
a0002c0002t0001g0116
others(2): Show 
a0001c0001t0001g0121
a0001c0001t0002g0195
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0124
 5 HG01361.hp1
HG01516.hp1
HG01517.hp1
others(2): Show 
HG01361.hp1
HG01516.hp1
HG01517.hp1
HG03041.hp2
HG03704.hp2
 intron_variant MODIFIER c.911-1403T>C
c.911-1403T>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1641400
chrX:1641407
A
A
 G
G
 2 a0001c0001t0001g0121
a0001c0001t0002g0195
a0001c0001t0001g0121
a0001c0001t0002g0195
 2 HG03041.hp2
HG03704.hp2
HG03041.hp2
HG03704.hp2
 intron_variant MODIFIER c.911-1396A>G
c.911-1396A>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1641407
chrX:1641411
T
T
 C
C
 2 a0001c0001t0001g0110
a0001c0003t0001g0050
a0001c0001t0001g0110
a0001c0003t0001g0050
 2 HG02165.hp2
HG04184.hp2
HG02165.hp2
HG04184.hp2
 intron_variant MODIFIER c.911-1392T>C
c.911-1392T>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1641411
chrX:1641412
C
C
 A
A
 2 a0001c0001t0001g0110
a0001c0003t0001g0050
a0001c0001t0001g0110
a0001c0003t0001g0050
 2 HG02165.hp2
HG04184.hp2
HG02165.hp2
HG04184.hp2
 intron_variant MODIFIER c.911-1391C>A
c.911-1391C>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1641412
chrX:1641419
G
G
 T
T
 2 a0001c0001t0001g0121
a0001c0001t0002g0195
a0001c0001t0001g0121
a0001c0001t0002g0195
 2 HG03041.hp2
HG03704.hp2
HG03041.hp2
HG03704.hp2
 intron_variant MODIFIER c.911-1384G>T
c.911-1384G>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1641419
chrX:1641421
T
T
 C
C
 172 a0001c0001t0001g0001
a0001c0001t0001g0005
a0001c0001t0001g0006
others(169): Show 
a0001c0001t0001g0001
a0001c0001t0001g0005
a0001c0001t0001g0006
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0012
a0001c0001t0001g0014
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0019
a0001c0001t0001g0021
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0053
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0061
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0077
a0001c0001t0001g0079
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0097
a0001c0001t0001g0100
a0001c0001t0001g0102
a0001c0001t0001g0103
a0001c0001t0001g0105
a0001c0001t0001g0106
a0001c0001t0001g0110
a0001c0001t0001g0114
a0001c0001t0001g0118
a0001c0001t0001g0121
a0001c0001t0001g0123
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0158
a0001c0001t0001g0174
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0209
a0001c0001t0001g0211
a0001c0001t0001g0212
a0001c0001t0001g0215
a0001c0001t0002g0039
a0001c0001t0002g0120
a0001c0001t0002g0135
a0001c0001t0002g0140
a0001c0001t0002g0143
a0001c0001t0002g0144
a0001c0001t0002g0145
a0001c0001t0002g0147
a0001c0001t0002g0152
a0001c0001t0002g0161
a0001c0001t0002g0167
a0001c0001t0002g0170
a0001c0001t0002g0176
a0001c0001t0002g0190
a0001c0001t0002g0195
a0001c0001t0002g0200
a0001c0001t0002g0201
a0001c0003t0001g0013
a0001c0003t0001g0022
a0001c0003t0001g0023
a0001c0003t0001g0030
a0001c0003t0001g0032
a0001c0003t0001g0033
a0001c0003t0001g0038
a0001c0003t0001g0050
a0001c0003t0001g0051
a0001c0003t0001g0059
a0001c0003t0001g0062
a0001c0003t0001g0080
a0001c0003t0001g0091
a0001c0003t0001g0092
a0001c0003t0001g0093
a0001c0003t0001g0094
a0001c0003t0001g0113
a0001c0003t0001g0115
a0001c0003t0001g0171
a0001c0003t0001g0193
a0001c0003t0001g0219
a0001c0003t0002g0149
a0001c0003t0002g0150
a0001c0003t0002g0155
a0001c0003t0002g0173
a0001c0003t0002g0177
a0001c0003t0002g0182
a0002c0002t0001g0002
a0002c0002t0001g0003
a0002c0002t0001g0009
a0002c0002t0001g0015
a0002c0002t0001g0026
a0002c0002t0001g0042
a0002c0002t0001g0044
a0002c0002t0001g0052
a0002c0002t0001g0054
a0002c0002t0001g0055
a0002c0002t0001g0066
a0002c0002t0001g0069
a0002c0002t0001g0073
a0002c0002t0001g0085
a0002c0002t0001g0087
a0002c0002t0001g0089
a0002c0002t0001g0095
a0002c0002t0001g0098
a0002c0002t0001g0099
a0002c0002t0001g0108
a0002c0002t0001g0122
a0002c0002t0001g0125
a0002c0002t0001g0126
a0002c0002t0001g0127
a0002c0002t0001g0129
a0002c0002t0001g0130
a0002c0002t0001g0151
a0002c0002t0001g0175
a0002c0002t0001g0185
a0002c0002t0001g0189
a0002c0002t0001g0208
a0002c0002t0001g0210
a0002c0002t0001g0220
a0002c0002t0001g0221
a0002c0002t0001g0222
a0002c0002t0002g0096
a0002c0002t0002g0131
a0002c0002t0002g0136
a0002c0002t0002g0146
a0002c0002t0002g0156
a0002c0002t0002g0159
a0002c0002t0002g0160
a0002c0002t0002g0162
a0002c0002t0002g0163
a0002c0002t0002g0166
a0002c0002t0002g0172
a0002c0002t0002g0178
a0002c0002t0002g0186
a0002c0002t0002g0188
a0002c0002t0002g0198
a0002c0002t0002g0199
a0002c0002t0002g0207
a0002c0002t0002g0213
a0002c0006t0001g0104
a0002c0006t0001g0187
a0003c0005t0001g0004
a0003c0005t0001g0202
a0004c0004t0001g0169
a0005c0016t0001g0045
a0006c0011t0001g0139
a0007c0012t0001g0109
a0008c0013t0001g0101
a0009c0014t0002g0075
a0010c0015t0002g0179
a0011c0008t0001g0034
a0013c0017t0001g0111
a0014c0018t0001g0060
 173 HG00323.hp1
HG00323.hp2
HG00423.hp1
others(170): Show 
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00597.hp2
HG00733.hp1
HG00733.hp2
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp2
HG01123.hp2
HG01168.hp1
HG01175.hp1
HG01256.hp1
HG01257.hp1
HG01257.hp2
HG01346.hp1
HG01346.hp2
HG01496.hp1
HG01516.hp2
HG01884.hp1
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01975.hp1
HG01978.hp2
HG01981.hp1
HG01993.hp1
HG01993.hp2
HG02004.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02148.hp2
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02273.hp2
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02683.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03195.hp1
HG03195.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03486.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03831.hp1
HG03834.hp2
HG03927.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18947.hp1
NA18947.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18956.hp1
NA18956.hp2
NA18963.hp1
NA18963.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18973.hp1
NA18973.hp2
NA18974.hp1
NA18975.hp1
NA18975.hp2
NA18977.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18985.hp1
NA18986.hp2
NA18988.hp1
NA18992.hp1
NA18992.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19057.hp1
NA19057.hp2
NA19062.hp1
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19072.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19085.hp1
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA21309.hp2
 intron_variant MODIFIER c.911-1382T>C
c.911-1382T>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1641421
chrX:1641422
G
G
 A
A
 21 a0001c0001t0001g0014
a0001c0001t0001g0017
a0001c0001t0001g0019
others(18): Show 
a0001c0001t0001g0014
a0001c0001t0001g0017
a0001c0001t0001g0019
a0001c0001t0001g0021
a0001c0001t0001g0049
a0001c0001t0001g0081
a0001c0001t0001g0110
a0001c0001t0001g0121
a0001c0001t0002g0152
a0001c0001t0002g0195
a0001c0003t0001g0032
a0001c0003t0001g0050
a0001c0003t0002g0173
a0002c0002t0001g0002
a0002c0002t0001g0042
a0002c0002t0001g0085
a0002c0002t0001g0095
a0002c0002t0002g0096
a0002c0002t0002g0160
a0002c0002t0002g0207
a0002c0002t0002g0213
 21 HG00423.hp2
HG00741.hp2
HG02155.hp2
others(18): Show 
HG00423.hp2
HG00741.hp2
HG02155.hp2
HG02165.hp2
HG03041.hp2
HG03195.hp1
HG03453.hp1
HG03516.hp2
HG03704.hp1
HG03704.hp2
HG04184.hp2
HG06807.hp1
NA18942.hp2
NA18947.hp2
NA18975.hp1
NA18980.hp1
NA18981.hp1
NA18992.hp1
NA18999.hp2
NA19080.hp1
NA20300.hp1
 intron_variant MODIFIER c.911-1381G>A
c.911-1381G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1641422
chrX:1641434
G
G
 T
T
 3 a0001c0001t0001g0121
a0001c0001t0002g0195
a0009c0014t0002g0075
a0001c0001t0001g0121
a0001c0001t0002g0195
a0009c0014t0002g0075
 3 HG02683.hp2
HG03041.hp2
HG03704.hp2
HG02683.hp2
HG03041.hp2
HG03704.hp2
 intron_variant MODIFIER c.911-1369G>T
c.911-1369G>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1641434
chrX:1641437
C
C
 G
G
 1 a0009c0014t0002g0075
a0009c0014t0002g0075
 1 HG02683.hp2
HG02683.hp2
 intron_variant MODIFIER c.911-1366C>G
c.911-1366C>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1641437
chrX:1641444
T
T
 A
A
 1 a0001c0001t0002g0195
a0001c0001t0002g0195
 1 HG03704.hp2
HG03704.hp2
 intron_variant MODIFIER c.911-1359T>A
c.911-1359T>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1641444
chrX:1641446
A
A
 T
T
 2 a0001c0001t0001g0084
a0001c0001t0001g0086
a0001c0001t0001g0084
a0001c0001t0001g0086
 2 NA18950.hp1
NA19081.hp2
NA18950.hp1
NA19081.hp2
 intron_variant MODIFIER c.911-1357A>T
c.911-1357A>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1641446
chrX:1641448
G
G
 A
A
 1 a0001c0001t0001g0121
a0001c0001t0001g0121
 1 HG03041.hp2
HG03041.hp2
 intron_variant MODIFIER c.911-1355G>A
c.911-1355G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1641448
chrX:1641449
G
G
 A
A
 1 a0001c0001t0001g0121
a0001c0001t0001g0121
 1 HG03041.hp2
HG03041.hp2
 intron_variant MODIFIER c.911-1354G>A
c.911-1354G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1641449
chrX:1641454
A
A
 G
G
 2 a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0047
a0001c0001t0001g0048
 2 HG01070.hp1
HG01071.hp1
HG01070.hp1
HG01071.hp1
 intron_variant MODIFIER c.911-1349A>G
c.911-1349A>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1641454
chrX:1641459
C
C
 T
T
 1 a0001c0001t0001g0121
a0001c0001t0001g0121
 1 HG03041.hp2
HG03041.hp2
 intron_variant MODIFIER c.911-1344C>T
c.911-1344C>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1641459
chrX:1641464
C
C
 T
T
 1 a0001c0001t0002g0195
a0001c0001t0002g0195
 1 HG03704.hp2
HG03704.hp2
 intron_variant MODIFIER c.911-1339C>T
c.911-1339C>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1641464
chrX:1641466
CTCCTGTG
others(158): Show 
CTCCTGTGAGGTCCATCCATCCTGATGGTTCATGGGGACGTGAGCACAGC
CTCTGTGTGTGTGTTGGGGACAGTGTCCCAGTTCTCCTGTGAGGTCCACC
CATCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGTGATGG
GGACAGTGTCCCAGTG
 C
C
 1 a0001c0001t0001g0121
a0001c0001t0001g0121
 1 HG03041.hp2
HG03041.hp2
 intron_variant MODIFIER c.911-1322_911-1158d
others(2): Show 
c.911-1322_911-1158del
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 INFO_REALIGN_3_PRIME chrX 1641466
chrX:1641481
T
T
 C
C
 1 a0001c0001t0002g0195
a0001c0001t0002g0195
 1 HG03704.hp2
HG03704.hp2
 intron_variant MODIFIER c.911-1322T>C
c.911-1322T>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1641481
chrX:1641490
A
A
 G
G
 1 a0001c0001t0002g0195
a0001c0001t0002g0195
 1 HG03704.hp2
HG03704.hp2
 intron_variant MODIFIER c.911-1313A>G
c.911-1313A>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1641490
chrX:1641495
T
T
 C
C
 1 a0001c0001t0002g0195
a0001c0001t0002g0195
 1 HG03704.hp2
HG03704.hp2
 intron_variant MODIFIER c.911-1308T>C
c.911-1308T>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1641495
chrX:1641500
G
G
 A
A
 171 a0001c0001t0001g0001
a0001c0001t0001g0005
a0001c0001t0001g0006
others(168): Show 
a0001c0001t0001g0001
a0001c0001t0001g0005
a0001c0001t0001g0006
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0012
a0001c0001t0001g0014
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0019
a0001c0001t0001g0021
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0053
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0061
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0067
a0001c0001t0001g0068
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0077
a0001c0001t0001g0079
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0084
a0001c0001t0001g0086
a0001c0001t0001g0097
a0001c0001t0001g0100
a0001c0001t0001g0102
a0001c0001t0001g0103
a0001c0001t0001g0105
a0001c0001t0001g0106
a0001c0001t0001g0110
a0001c0001t0001g0114
a0001c0001t0001g0118
a0001c0001t0001g0123
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0158
a0001c0001t0001g0174
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0209
a0001c0001t0001g0211
a0001c0001t0001g0212
a0001c0001t0002g0039
a0001c0001t0002g0135
a0001c0001t0002g0140
a0001c0001t0002g0143
a0001c0001t0002g0144
a0001c0001t0002g0145
a0001c0001t0002g0147
a0001c0001t0002g0152
a0001c0001t0002g0161
a0001c0001t0002g0167
a0001c0001t0002g0170
a0001c0001t0002g0176
a0001c0001t0002g0190
a0001c0001t0002g0195
a0001c0001t0002g0200
a0001c0001t0002g0201
a0001c0003t0001g0013
a0001c0003t0001g0022
a0001c0003t0001g0023
a0001c0003t0001g0030
a0001c0003t0001g0032
a0001c0003t0001g0033
a0001c0003t0001g0038
a0001c0003t0001g0050
a0001c0003t0001g0051
a0001c0003t0001g0059
a0001c0003t0001g0062
a0001c0003t0001g0080
a0001c0003t0001g0091
a0001c0003t0001g0092
a0001c0003t0001g0093
a0001c0003t0001g0094
a0001c0003t0001g0113
a0001c0003t0001g0115
a0001c0003t0001g0193
a0001c0003t0001g0219
a0001c0003t0002g0142
a0001c0003t0002g0149
a0001c0003t0002g0150
a0001c0003t0002g0155
a0001c0003t0002g0173
a0001c0003t0002g0177
a0001c0003t0002g0182
a0002c0002t0001g0002
a0002c0002t0001g0003
a0002c0002t0001g0009
a0002c0002t0001g0015
a0002c0002t0001g0018
a0002c0002t0001g0026
a0002c0002t0001g0042
a0002c0002t0001g0044
a0002c0002t0001g0052
a0002c0002t0001g0054
a0002c0002t0001g0055
a0002c0002t0001g0066
a0002c0002t0001g0069
a0002c0002t0001g0073
a0002c0002t0001g0085
a0002c0002t0001g0087
a0002c0002t0001g0089
a0002c0002t0001g0095
a0002c0002t0001g0098
a0002c0002t0001g0099
a0002c0002t0001g0108
a0002c0002t0001g0122
a0002c0002t0001g0125
a0002c0002t0001g0126
a0002c0002t0001g0127
a0002c0002t0001g0129
a0002c0002t0001g0130
a0002c0002t0001g0151
a0002c0002t0001g0175
a0002c0002t0001g0185
a0002c0002t0001g0189
a0002c0002t0001g0208
a0002c0002t0001g0210
a0002c0002t0001g0220
a0002c0002t0001g0221
a0002c0002t0001g0222
a0002c0002t0002g0096
a0002c0002t0002g0131
a0002c0002t0002g0136
a0002c0002t0002g0146
a0002c0002t0002g0156
a0002c0002t0002g0159
a0002c0002t0002g0162
a0002c0002t0002g0163
a0002c0002t0002g0166
a0002c0002t0002g0172
a0002c0002t0002g0178
a0002c0002t0002g0186
a0002c0002t0002g0188
a0002c0002t0002g0198
a0002c0002t0002g0199
a0002c0002t0002g0207
a0002c0002t0002g0213
a0002c0006t0001g0104
a0002c0006t0001g0187
a0003c0005t0001g0004
a0003c0005t0001g0202
a0004c0004t0001g0169
a0005c0016t0001g0045
a0006c0011t0001g0139
a0007c0012t0001g0109
a0008c0013t0001g0101
a0009c0014t0002g0075
a0010c0015t0002g0179
a0011c0008t0001g0034
a0013c0017t0001g0111
a0014c0018t0001g0060
 172 HG00323.hp1
HG00323.hp2
HG00423.hp1
others(169): Show 
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00597.hp2
HG00733.hp1
HG00733.hp2
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp2
HG01123.hp2
HG01168.hp1
HG01175.hp1
HG01256.hp1
HG01257.hp1
HG01257.hp2
HG01346.hp1
HG01346.hp2
HG01496.hp1
HG01516.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01975.hp1
HG01978.hp2
HG01981.hp1
HG01993.hp1
HG01993.hp2
HG02004.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02148.hp2
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02273.hp2
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02683.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03195.hp1
HG03195.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03486.hp1
HG03491.hp1
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03831.hp1
HG03834.hp1
HG03834.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18947.hp1
NA18947.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18956.hp1
NA18956.hp2
NA18963.hp1
NA18963.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18973.hp1
NA18973.hp2
NA18974.hp1
NA18975.hp1
NA18975.hp2
NA18977.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18985.hp1
NA18986.hp2
NA18988.hp1
NA18992.hp1
NA18992.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19057.hp1
NA19057.hp2
NA19062.hp1
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19072.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19085.hp1
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
 intron_variant MODIFIER c.911-1303G>A
c.911-1303G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1641500
chrX:1641502
G
G
 T
T
 1 a0001c0001t0002g0195
a0001c0001t0002g0195
 1 HG03704.hp2
HG03704.hp2
 intron_variant MODIFIER c.911-1301G>T
c.911-1301G>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1641502
chrX:1641505
G
G
 A
A
 1 a0001c0001t0002g0195
a0001c0001t0002g0195
 1 HG03704.hp2
HG03704.hp2
 intron_variant MODIFIER c.911-1298G>A
c.911-1298G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1641505
chrX:1641508
A
A
 G
G
 1 a0001c0001t0002g0195
a0001c0001t0002g0195
 1 HG03704.hp2
HG03704.hp2
 intron_variant MODIFIER c.911-1295A>G
c.911-1295A>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1641508
chrX:1641509
G
G
 A
A
 1 a0001c0001t0002g0195
a0001c0001t0002g0195
 1 HG03704.hp2
HG03704.hp2
 intron_variant MODIFIER c.911-1294G>A
c.911-1294G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1641509
chrX:1641520
G
G
 C
C
 1 a0001c0001t0002g0195
a0001c0001t0002g0195
 1 HG03704.hp2
HG03704.hp2
 intron_variant MODIFIER c.911-1283G>C
c.911-1283G>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1641520
chrX:1641529
T
T
 A
A
 3 a0001c0001t0002g0195
a0001c0003t0002g0133
a0003c0009t0001g0011
a0001c0001t0002g0195
a0001c0003t0002g0133
a0003c0009t0001g0011
 3 HG03486.hp2
HG03704.hp2
NA19030.hp2
HG03486.hp2
HG03704.hp2
NA19030.hp2
 intron_variant MODIFIER c.911-1274T>A
c.911-1274T>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1641529
chrX:1641529
T
T
 TGA
TGA
 1 a0006c0011t0001g0139
a0006c0011t0001g0139
 1 HG02559.hp2
HG02559.hp2
 intron_variant MODIFIER c.911-1274_911-1273i
others(4): Show 
c.911-1274_911-1273insGA
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1641529
chrX:1641531
G
G
 A
A
 1 a0001c0001t0002g0195
a0001c0001t0002g0195
 1 HG03704.hp2
HG03704.hp2
 intron_variant MODIFIER c.911-1272G>A
c.911-1272G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1641531
chrX:1641532
G
G
 A
A
 1 a0001c0001t0002g0195
a0001c0001t0002g0195
 1 HG03704.hp2
HG03704.hp2
 intron_variant MODIFIER c.911-1271G>A
c.911-1271G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1641532
chrX:1641537
A
A
 G
G
 2 a0001c0003t0002g0133
a0003c0009t0001g0011
a0001c0003t0002g0133
a0003c0009t0001g0011
 2 HG03486.hp2
NA19030.hp2
HG03486.hp2
NA19030.hp2
 intron_variant MODIFIER c.911-1266A>G
c.911-1266A>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1641537
chrX:1641542
C
C
 T
T
 1 a0001c0001t0002g0195
a0001c0001t0002g0195
 1 HG03704.hp2
HG03704.hp2
 intron_variant MODIFIER c.911-1261C>T
c.911-1261C>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1641542
chrX:1641547
T
T
 C
C
 7 a0001c0001t0001g0049
a0001c0001t0001g0065
a0001c0001t0001g0084
others(4): Show 
a0001c0001t0001g0049
a0001c0001t0001g0065
a0001c0001t0001g0084
a0001c0001t0001g0086
a0001c0001t0001g0206
a0001c0001t0002g0170
a0001c0001t0002g0195
 7 HG03704.hp2
NA18950.hp1
NA18951.hp1
others(4): Show 
HG03704.hp2
NA18950.hp1
NA18951.hp1
NA18998.hp1
NA19011.hp1
NA19080.hp1
NA19081.hp2
 intron_variant MODIFIER c.911-1256T>C
c.911-1256T>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1641547
chrX:1641562
CACCCA
CACCCA
 C
C
 1 a0010c0015t0002g0179
a0010c0015t0002g0179
 1 NA19072.hp2
NA19072.hp2
 intron_variant MODIFIER c.911-1240_911-1236d
others(7): Show 
c.911-1240_911-1236delACCCA
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1641562
chrX:1641570
C
C
 T
T
 2 a0001c0003t0002g0133
a0003c0009t0001g0011
a0001c0003t0002g0133
a0003c0009t0001g0011
 2 HG03486.hp2
NA19030.hp2
HG03486.hp2
NA19030.hp2
 intron_variant MODIFIER c.911-1233C>T
c.911-1233C>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1641570
chrX:1641578
T
T
 C
C
 2 a0001c0003t0002g0133
a0003c0009t0001g0011
a0001c0003t0002g0133
a0003c0009t0001g0011
 2 HG03486.hp2
NA19030.hp2
HG03486.hp2
NA19030.hp2
 intron_variant MODIFIER c.911-1225T>C
c.911-1225T>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1641578
chrX:1641587
T
T
 C
C
 2 a0001c0003t0002g0133
a0003c0009t0001g0011
a0001c0003t0002g0133
a0003c0009t0001g0011
 2 HG03486.hp2
NA19030.hp2
HG03486.hp2
NA19030.hp2
 intron_variant MODIFIER c.911-1216T>C
c.911-1216T>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1641587
chrX:1641588
G
G
 A
A
 2 a0001c0003t0002g0133
a0003c0009t0001g0011
a0001c0003t0002g0133
a0003c0009t0001g0011
 2 HG03486.hp2
NA19030.hp2
HG03486.hp2
NA19030.hp2
 intron_variant MODIFIER c.911-1215G>A
c.911-1215G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1641588
chrX:1641592
GCACAGCC
others(158): Show 
GCACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGG
TCCACCCATCCTGGTGGTCCATGAGTACATGGACACAGCCTCTCTGTGTG
AGATGGGGACAGTGTCCCAGTTCTCCTGTGAGGTCCACCCATCCTGGTGG
TCCATGAGTACATGGA
 G
G
 1 a0001c0001t0001g0041
a0001c0001t0001g0041
 1 NA18973.hp1
NA18973.hp1
 intron_variant MODIFIER c.911-1200_911-1036d
others(2): Show 
c.911-1200_911-1036del
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 INFO_REALIGN_3_PRIME chrX 1641592
chrX:1641603
G
G
 C
C
 2 a0001c0003t0002g0133
a0003c0009t0001g0011
a0001c0003t0002g0133
a0003c0009t0001g0011
 2 HG03486.hp2
NA19030.hp2
HG03486.hp2
NA19030.hp2
 intron_variant MODIFIER c.911-1200G>C
c.911-1200G>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1641603
chrX:1641614
G
G
 A
A
 2 a0001c0003t0002g0133
a0003c0009t0001g0011
a0001c0003t0002g0133
a0003c0009t0001g0011
 2 HG03486.hp2
NA19030.hp2
HG03486.hp2
NA19030.hp2
 intron_variant MODIFIER c.911-1189G>A
c.911-1189G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1641614
chrX:1641615
G
G
 A
A
 2 a0001c0003t0002g0133
a0003c0009t0001g0011
a0001c0003t0002g0133
a0003c0009t0001g0011
 2 HG03486.hp2
NA19030.hp2
HG03486.hp2
NA19030.hp2
 intron_variant MODIFIER c.911-1188G>A
c.911-1188G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1641615
chrX:1641625
C
C
 T
T
 2 a0001c0003t0002g0133
a0003c0009t0001g0011
a0001c0003t0002g0133
a0003c0009t0001g0011
 2 HG03486.hp2
NA19030.hp2
HG03486.hp2
NA19030.hp2
 intron_variant MODIFIER c.911-1178C>T
c.911-1178C>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1641625
chrX:1641629
G
G
 GC
GC
 2 a0001c0003t0002g0133
a0003c0009t0001g0011
a0001c0003t0002g0133
a0003c0009t0001g0011
 2 HG03486.hp2
NA19030.hp2
HG03486.hp2
NA19030.hp2
 intron_variant MODIFIER c.911-1174_911-1173i
others(3): Show 
c.911-1174_911-1173insC
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1641629
chrX:1641631
G
G
 C
C
 2 a0001c0003t0002g0133
a0003c0009t0001g0011
a0001c0003t0002g0133
a0003c0009t0001g0011
 2 HG03486.hp2
NA19030.hp2
HG03486.hp2
NA19030.hp2
 intron_variant MODIFIER c.911-1172G>C
c.911-1172G>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1641631
chrX:1641648
C
C
 T
T
 1 a0001c0001t0002g0132
a0001c0001t0002g0132
 1 HG02683.hp1
HG02683.hp1
 intron_variant MODIFIER c.911-1155C>T
c.911-1155C>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1641648
chrX:1641652
C
C
 G
G
 1 a0002c0002t0001g0074
a0002c0002t0001g0074
 1 NA21309.hp1
NA21309.hp1
 intron_variant MODIFIER c.911-1151C>G
c.911-1151C>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1641652
chrX:1641655
G
G
 A
A
 2 a0001c0001t0002g0132
a0001c0001t0002g0195
a0001c0001t0002g0132
a0001c0001t0002g0195
 2 HG02683.hp1
HG03704.hp2
HG02683.hp1
HG03704.hp2
 intron_variant MODIFIER c.911-1148G>A
c.911-1148G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1641655
chrX:1641660
C
C
 T
T
 1 a0006c0011t0001g0139
a0006c0011t0001g0139
 1 HG02559.hp2
HG02559.hp2
 intron_variant MODIFIER c.911-1143C>T
c.911-1143C>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1641660
chrX:1641667
T
T
 G
G
 2 a0001c0001t0002g0132
a0006c0011t0001g0139
a0001c0001t0002g0132
a0006c0011t0001g0139
 2 HG02559.hp2
HG02683.hp1
HG02559.hp2
HG02683.hp1
 intron_variant MODIFIER c.911-1136T>G
c.911-1136T>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1641667
chrX:1641669
C
C
 T
T
 1 a0006c0011t0001g0139
a0006c0011t0001g0139
 1 HG02559.hp2
HG02559.hp2
 intron_variant MODIFIER c.911-1134C>T
c.911-1134C>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1641669
chrX:1641670
A
A
 G
G
 2 a0001c0001t0002g0132
a0006c0011t0001g0139
a0001c0001t0002g0132
a0006c0011t0001g0139
 2 HG02559.hp2
HG02683.hp1
HG02559.hp2
HG02683.hp1
 intron_variant MODIFIER c.911-1133A>G
c.911-1133A>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1641670
chrX:1641674
A
A
 G
G
 1 a0006c0011t0001g0139
a0006c0011t0001g0139
 1 HG02559.hp2
HG02559.hp2
 intron_variant MODIFIER c.911-1129A>G
c.911-1129A>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1641674
chrX:1641682
T
T
 G
G
 1 a0001c0001t0002g0132
a0001c0001t0002g0132
 1 HG02683.hp1
HG02683.hp1
 intron_variant MODIFIER c.911-1121T>G
c.911-1121T>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1641682
chrX:1641685
C
C
 G
G
 1 a0006c0011t0001g0139
a0006c0011t0001g0139
 1 HG02559.hp2
HG02559.hp2
 intron_variant MODIFIER c.911-1118C>G
c.911-1118C>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1641685
chrX:1641691
G
G
 C
C
 1 a0002c0006t0001g0187
a0002c0006t0001g0187
 1 HG00544.hp2
HG00544.hp2
 intron_variant MODIFIER c.911-1112G>C
c.911-1112G>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1641691
chrX:1641692
A
A
 T
T
 4 a0001c0001t0002g0132
a0001c0001t0002g0134
a0001c0001t0003g0090
others(1): Show 
a0001c0001t0002g0132
a0001c0001t0002g0134
a0001c0001t0003g0090
a0006c0011t0001g0139
 4 HG02559.hp2
HG02615.hp1
HG02683.hp1
others(1): Show 
HG02559.hp2
HG02615.hp1
HG02683.hp1
HG02818.hp2
 intron_variant MODIFIER c.911-1111A>T
c.911-1111A>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1641692
chrX:1641702
A
A
 G
G
 2 a0001c0001t0002g0134
a0001c0001t0003g0090
a0001c0001t0002g0134
a0001c0001t0003g0090
 2 HG02615.hp1
HG02818.hp2
HG02615.hp1
HG02818.hp2
 intron_variant MODIFIER c.911-1101A>G
c.911-1101A>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1641702
chrX:1641711
GT
GT
 G
G
 1 a0006c0011t0001g0139
a0006c0011t0001g0139
 1 HG02559.hp2
HG02559.hp2
 intron_variant MODIFIER c.911-1090delT
c.911-1090delT
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 INFO_REALIGN_3_PRIME chrX 1641711
chrX:1641712
TTCTCCTG
others(76): Show 
TTCTCCTGTGAGGTCCACCCATCCTGGTGGTCCATGAGTACATGGACACA
GCCTCTCTGTGTGTGATAAGGACAGTGTTCCAGC
 T
T
 1 a0002c0002t0001g0020
a0002c0002t0001g0020
 1 HG02280.hp1
HG02280.hp1
 intron_variant MODIFIER c.911-1068_911-986de
others(84): Show 
c.911-1068_911-986delCTGGTGGTCCATGAGTACATGGACACAGC
CTCTCTGTGTGTGATAAGGACAGTGTTCCAGCTCTCCTGTGAGGTCCACC
CATC
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 INFO_REALIGN_3_PRIME chrX 1641712
chrX:1641714
C
C
 G
G
 1 a0006c0011t0001g0139
a0006c0011t0001g0139
 1 HG02559.hp2
HG02559.hp2
 intron_variant MODIFIER c.911-1089C>G
c.911-1089C>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1641714
chrX:1641750
T
T
 G
G
 1 a0002c0002t0002g0112
a0002c0002t0002g0112
 1 NA18941.hp1
NA18941.hp1
 intron_variant MODIFIER c.911-1053T>G
c.911-1053T>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1641750
chrX:1641757
A
A
 G
G
 1 a0002c0002t0002g0112
a0002c0002t0002g0112
 1 NA18941.hp1
NA18941.hp1
 intron_variant MODIFIER c.911-1046A>G
c.911-1046A>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1641757
chrX:1641757
ACACAGCC
others(407): Show 
ACACAGCCTCTCTGTGTGTGATAAGGACAGTGTTCCAGCTCTCCTGTGAG
GTCCACCCATCTTGATGGTTCATGAGGACTTGGGCATGGCCTCTATGTGT
GTGATGGGGACAGTGTCCCAGTGTCCTGTGAGGTCCACCCATCCTGATGG
TCCATGAGGATGTGGGCACAACCTCTTTGTGTGTGATGGGGACAGTGTCC
CAGTGTCTGTGAGGTCCACCCATCCGATGGTTCATGAGGACGTGGGCACA
GCCTCTGTGTGTAATGGGGATAGCATCCCAGTGTCCTGTGAGGTCCATCC
ATCCTGATGGCCCATGAGGATGTGGGCACAGCCTCTGTGTGTGTGTGTGT
GATGGGGACGGTGTCCCAGTTCTCCTGTGAGGTCCACCCATCCTGATGGT
CCATGAGGACATGGG
 A
A
 1 a0001c0001t0001g0082
a0001c0001t0001g0082
 1 HG01257.hp2
HG01257.hp2
 intron_variant MODIFIER c.911-960_911-547del
c.911-960_911-547del
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 INFO_REALIGN_3_PRIME chrX 1641757
chrX:1641836
T
T
 G
G
 1 a0002c0002t0002g0112
a0002c0002t0002g0112
 1 NA18941.hp1
NA18941.hp1
 intron_variant MODIFIER c.911-967T>G
c.911-967T>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1641836
chrX:1641838
G
G
 C
C
 1 a0001c0003t0001g0032
a0001c0003t0001g0032
 1 NA18980.hp1
NA18980.hp1
 intron_variant MODIFIER c.911-965G>C
c.911-965G>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1641838
chrX:1641839
G
G
 A
A
 1 a0002c0002t0002g0112
a0002c0002t0002g0112
 1 NA18941.hp1
NA18941.hp1
 intron_variant MODIFIER c.911-964G>A
c.911-964G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1641839
chrX:1641843
T
T
 C
C
 1 a0002c0002t0002g0112
a0002c0002t0002g0112
 1 NA18941.hp1
NA18941.hp1
 intron_variant MODIFIER c.911-960T>C
c.911-960T>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1641843
chrX:1641844
G
G
 A
A
 1 a0002c0002t0002g0112
a0002c0002t0002g0112
 1 NA18941.hp1
NA18941.hp1
 intron_variant MODIFIER c.911-959G>A
c.911-959G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1641844
chrX:1641851
A
A
 G
G
 1 a0002c0002t0002g0112
a0002c0002t0002g0112
 1 NA18941.hp1
NA18941.hp1
 intron_variant MODIFIER c.911-952A>G
c.911-952A>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1641851
chrX:1641858
T
T
 A
A
 1 a0002c0002t0002g0112
a0002c0002t0002g0112
 1 NA18941.hp1
NA18941.hp1
 intron_variant MODIFIER c.911-945T>A
c.911-945T>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1641858
chrX:1641862
G
G
 A
A
 1 a0002c0002t0002g0112
a0002c0002t0002g0112
 1 NA18941.hp1
NA18941.hp1
 intron_variant MODIFIER c.911-941G>A
c.911-941G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1641862
chrX:1641868
A
A
 C
C
 1 a0002c0002t0002g0112
a0002c0002t0002g0112
 1 NA18941.hp1
NA18941.hp1
 intron_variant MODIFIER c.911-935A>C
c.911-935A>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1641868
chrX:1641869
G
G
 A
A
 1 a0002c0002t0002g0112
a0002c0002t0002g0112
 1 NA18941.hp1
NA18941.hp1
 intron_variant MODIFIER c.911-934G>A
c.911-934G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1641869
chrX:1641877
G
G
 GC
GC
 1 a0002c0002t0002g0112
a0002c0002t0002g0112
 1 NA18941.hp1
NA18941.hp1
 intron_variant MODIFIER c.911-926_911-925ins
others(1): Show 
c.911-926_911-925insC
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1641877
chrX:1641879
G
G
 C
C
 1 a0002c0002t0002g0112
a0002c0002t0002g0112
 1 NA18941.hp1
NA18941.hp1
 intron_variant MODIFIER c.911-924G>C
c.911-924G>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1641879
chrX:1641881
C
C
 CCTGTGAG
others(74): Show 
CCTGTGAGGTCCACCCATCCTGATGGTCCATGAGGATGTGGGCACAACCT
CTTTGTGTGTGATGGGGACAGTGTCCCAGTGT
 1 a0001c0001t0001g0118
a0001c0001t0001g0118
 1 HG02109.hp2
HG02109.hp2
 intron_variant MODIFIER c.911-902_911-822dup
others(81): Show 
c.911-902_911-822dupTGATGGTCCATGAGGATGTGGGCACAACCT
CTTTGTGTGTGATGGGGACAGTGTCCCAGTGTCTGTGAGGTCCACCCATC
C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 INFO_REALIGN_3_PRIME chrX 1641881
chrX:1641906
G
G
 A
A
 1 a0002c0002t0002g0112
a0002c0002t0002g0112
 1 NA18941.hp1
NA18941.hp1
 intron_variant MODIFIER c.911-897G>A
c.911-897G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1641906
chrX:1641922
G
G
 A
A
 1 a0002c0002t0002g0112
a0002c0002t0002g0112
 1 NA18941.hp1
NA18941.hp1
 intron_variant MODIFIER c.911-881G>A
c.911-881G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1641922
chrX:1641927
A
A
 G
G
 1 a0002c0002t0002g0112
a0002c0002t0002g0112
 1 NA18941.hp1
NA18941.hp1
 intron_variant MODIFIER c.911-876A>G
c.911-876A>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1641927
chrX:1641933
T
T
 G
G
 1 a0002c0002t0002g0112
a0002c0002t0002g0112
 1 NA18941.hp1
NA18941.hp1
 intron_variant MODIFIER c.911-870T>G
c.911-870T>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1641933
chrX:1641970
G
G
 A
A
 10 a0001c0001t0001g0024
a0001c0001t0001g0046
a0001c0001t0002g0120
others(7): Show 
a0001c0001t0001g0024
a0001c0001t0001g0046
a0001c0001t0002g0120
a0001c0001t0002g0134
a0001c0003t0001g0022
a0001c0003t0002g0133
a0002c0002t0001g0009
a0002c0002t0001g0189
a0002c0002t0001g0210
a0003c0009t0001g0011
 10 HG02615.hp1
HG02818.hp1
HG02886.hp1
others(7): Show 
HG02615.hp1
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02976.hp1
HG03486.hp2
HG03831.hp1
HG03927.hp2
NA18906.hp1
NA19030.hp2
 intron_variant MODIFIER c.911-833G>A
c.911-833G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1641970
chrX:1641979
T
T
 C
C
 1 a0011c0008t0001g0034
a0011c0008t0001g0034
 1 HG02523.hp2
HG02523.hp2
 intron_variant MODIFIER c.911-824T>C
c.911-824T>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1641979
chrX:1641981
C
C
 CT
CT
 47 a0001c0001t0001g0005
a0001c0001t0001g0024
a0001c0001t0001g0029
others(44): Show 
a0001c0001t0001g0005
a0001c0001t0001g0024
a0001c0001t0001g0029
a0001c0001t0001g0046
a0001c0001t0001g0053
a0001c0001t0001g0079
a0001c0001t0001g0097
a0001c0001t0001g0100
a0001c0001t0001g0102
a0001c0001t0001g0103
a0001c0001t0001g0121
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0002g0120
a0001c0001t0002g0134
a0001c0001t0002g0145
a0001c0001t0002g0147
a0001c0001t0003g0090
a0001c0003t0001g0013
a0001c0003t0001g0022
a0001c0003t0001g0033
a0001c0003t0001g0051
a0001c0003t0001g0094
a0001c0003t0002g0133
a0001c0003t0002g0149
a0001c0003t0002g0173
a0002c0002t0001g0003
a0002c0002t0001g0009
a0002c0002t0001g0044
a0002c0002t0001g0073
a0002c0002t0001g0098
a0002c0002t0001g0108
a0002c0002t0001g0126
a0002c0002t0001g0130
a0002c0002t0001g0151
a0002c0002t0001g0189
a0002c0002t0001g0210
a0002c0002t0002g0162
a0002c0002t0002g0172
a0002c0002t0002g0198
a0002c0006t0001g0104
a0003c0009t0001g0011
a0007c0012t0001g0109
a0008c0013t0001g0101
a0009c0014t0002g0075
a0011c0008t0001g0034
a0014c0018t0001g0060
 47 HG00423.hp2
HG00438.hp1
HG00438.hp2
others(44): Show 
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG01123.hp2
HG01256.hp1
HG01257.hp1
HG01346.hp1
HG02523.hp2
HG02615.hp1
HG02683.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02976.hp1
HG03041.hp2
HG03239.hp2
HG03486.hp2
HG03669.hp2
HG03831.hp1
HG03927.hp2
HG04184.hp1
HG06807.hp2
NA18906.hp1
NA18939.hp1
NA18949.hp2
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18956.hp2
NA18963.hp1
NA18963.hp2
NA18969.hp1
NA18980.hp2
NA18988.hp1
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19010.hp1
NA19030.hp2
NA19057.hp1
NA19064.hp2
NA19074.hp2
NA19080.hp2
NA19085.hp1
 intron_variant MODIFIER c.911-822_911-821ins
others(1): Show 
c.911-822_911-821insT
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1641981
chrX:1642091
C
C
 CTG
CTG
 1 a0002c0006t0001g0104
a0002c0006t0001g0104
 1 HG03669.hp2
HG03669.hp2
 intron_variant MODIFIER c.911-697_911-696dup
others(2): Show 
c.911-697_911-696dupTG
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 INFO_REALIGN_3_PRIME chrX 1642091
chrX:1642149
C
C
 T
T
 48 a0001c0001t0001g0005
a0001c0001t0001g0008
a0001c0001t0001g0024
others(45): Show 
a0001c0001t0001g0005
a0001c0001t0001g0008
a0001c0001t0001g0024
a0001c0001t0001g0029
a0001c0001t0001g0046
a0001c0001t0001g0053
a0001c0001t0001g0071
a0001c0001t0001g0079
a0001c0001t0001g0097
a0001c0001t0001g0100
a0001c0001t0001g0102
a0001c0001t0001g0103
a0001c0001t0001g0121
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0211
a0001c0001t0002g0120
a0001c0001t0002g0134
a0001c0001t0002g0145
a0001c0001t0002g0147
a0001c0001t0002g0190
a0001c0001t0003g0090
a0001c0003t0001g0013
a0001c0003t0001g0022
a0001c0003t0001g0033
a0001c0003t0001g0051
a0001c0003t0001g0094
a0001c0003t0002g0133
a0001c0003t0002g0149
a0001c0003t0002g0173
a0002c0002t0001g0003
a0002c0002t0001g0009
a0002c0002t0001g0044
a0002c0002t0001g0073
a0002c0002t0001g0098
a0002c0002t0001g0126
a0002c0002t0001g0130
a0002c0002t0001g0151
a0002c0002t0001g0189
a0002c0002t0001g0210
a0002c0002t0002g0162
a0002c0002t0002g0198
a0002c0006t0001g0104
a0003c0009t0001g0011
a0007c0012t0001g0109
a0008c0013t0001g0101
a0009c0014t0002g0075
a0011c0008t0001g0034
 48 HG00423.hp2
HG00438.hp1
HG00438.hp2
others(45): Show 
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG01123.hp2
HG01256.hp1
HG01257.hp1
HG01346.hp1
HG02523.hp2
HG02615.hp1
HG02683.hp2
HG02723.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02976.hp1
HG03041.hp1
HG03041.hp2
HG03239.hp2
HG03486.hp2
HG03669.hp2
HG03831.hp1
HG03927.hp2
HG04184.hp1
HG06807.hp2
NA18906.hp1
NA18939.hp1
NA18949.hp2
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18956.hp2
NA18963.hp1
NA18963.hp2
NA18969.hp1
NA18980.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19010.hp1
NA19030.hp2
NA19064.hp2
NA19074.hp2
NA19085.hp1
NA20129.hp1
 intron_variant MODIFIER c.911-654C>T
c.911-654C>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1642149
chrX:1642269
G
G
 A
A
 2 a0001c0001t0002g0184
a0001c0003t0001g0070
a0001c0001t0002g0184
a0001c0003t0001g0070
 2 HG01884.hp2
HG02280.hp2
HG01884.hp2
HG02280.hp2
 intron_variant MODIFIER c.911-534G>A
c.911-534G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1642269
chrX:1642309
A
A
 G
G
 68 a0001c0001t0001g0005
a0001c0001t0001g0008
a0001c0001t0001g0024
others(65): Show 
a0001c0001t0001g0005
a0001c0001t0001g0008
a0001c0001t0001g0024
a0001c0001t0001g0029
a0001c0001t0001g0046
a0001c0001t0001g0053
a0001c0001t0001g0071
a0001c0001t0001g0079
a0001c0001t0001g0082
a0001c0001t0001g0097
a0001c0001t0001g0100
a0001c0001t0001g0102
a0001c0001t0001g0103
a0001c0001t0001g0121
a0001c0001t0001g0158
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0206
a0001c0001t0001g0211
a0001c0001t0002g0120
a0001c0001t0002g0132
a0001c0001t0002g0134
a0001c0001t0002g0145
a0001c0001t0002g0147
a0001c0001t0002g0190
a0001c0001t0003g0090
a0001c0003t0001g0013
a0001c0003t0001g0022
a0001c0003t0001g0033
a0001c0003t0001g0051
a0001c0003t0001g0094
a0001c0003t0001g0115
a0001c0003t0001g0193
a0001c0003t0002g0133
a0001c0003t0002g0149
a0001c0003t0002g0173
a0002c0002t0001g0003
a0002c0002t0001g0009
a0002c0002t0001g0018
a0002c0002t0001g0044
a0002c0002t0001g0052
a0002c0002t0001g0066
a0002c0002t0001g0073
a0002c0002t0001g0087
a0002c0002t0001g0098
a0002c0002t0001g0125
a0002c0002t0001g0126
a0002c0002t0001g0130
a0002c0002t0001g0151
a0002c0002t0001g0175
a0002c0002t0001g0189
a0002c0002t0001g0210
a0002c0002t0001g0222
a0002c0002t0002g0096
a0002c0002t0002g0146
a0002c0002t0002g0154
a0002c0002t0002g0162
a0002c0002t0002g0198
a0002c0006t0001g0104
a0002c0006t0001g0187
a0003c0005t0001g0202
a0003c0009t0001g0011
a0005c0016t0001g0045
a0007c0012t0001g0109
a0008c0013t0001g0101
a0009c0014t0002g0075
a0011c0008t0001g0034
a0014c0018t0001g0060
 68 HG00423.hp2
HG00438.hp1
HG00438.hp2
others(65): Show 
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp2
HG00639.hp2
HG00733.hp2
HG01123.hp2
HG01168.hp1
HG01256.hp1
HG01257.hp1
HG01257.hp2
HG01346.hp1
HG02004.hp2
HG02523.hp2
HG02615.hp1
HG02683.hp1
HG02683.hp2
HG02723.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02922.hp1
HG02976.hp1
HG03041.hp1
HG03041.hp2
HG03195.hp2
HG03239.hp2
HG03486.hp2
HG03669.hp2
HG03831.hp1
HG03834.hp1
HG03927.hp2
HG04184.hp1
HG04204.hp2
HG06807.hp2
NA18906.hp1
NA18939.hp1
NA18939.hp2
NA18941.hp2
NA18949.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18956.hp2
NA18963.hp1
NA18963.hp2
NA18969.hp1
NA18975.hp1
NA18980.hp2
NA18988.hp1
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19010.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19062.hp1
NA19064.hp2
NA19074.hp2
NA19085.hp1
NA19240.hp2
NA20129.hp1
 intron_variant MODIFIER c.911-494A>G
c.911-494A>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1642309
chrX:1642359
G
G
 A
A
 1 a0001c0001t0002g0153
a0001c0001t0002g0153
 1 HG01496.hp2
HG01496.hp2
 intron_variant MODIFIER c.911-444G>A
c.911-444G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1642359
chrX:1642381
T
T
 A
A
 1 a0001c0001t0002g0153
a0001c0001t0002g0153
 1 HG01496.hp2
HG01496.hp2
 intron_variant MODIFIER c.911-422T>A
c.911-422T>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1642381
chrX:1642385
G
G
 A
A
 1 a0001c0001t0001g0071
a0001c0001t0001g0071
 1 HG03041.hp1
HG03041.hp1
 intron_variant MODIFIER c.911-418G>A
c.911-418G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1642385
chrX:1642389
A
A
 G
G
 1 a0001c0001t0002g0190
a0001c0001t0002g0190
 1 HG02723.hp2
HG02723.hp2
 intron_variant MODIFIER c.911-414A>G
c.911-414A>G
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1642389
chrX:1642390
C
C
 T
T
 1 a0001c0001t0002g0153
a0001c0001t0002g0153
 1 HG01496.hp2
HG01496.hp2
 intron_variant MODIFIER c.911-413C>T
c.911-413C>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1642390
chrX:1642453
G
G
 T
T
 8 a0001c0001t0001g0024
a0001c0001t0001g0046
a0001c0001t0002g0120
others(5): Show 
a0001c0001t0001g0024
a0001c0001t0001g0046
a0001c0001t0002g0120
a0001c0001t0002g0134
a0001c0003t0001g0022
a0002c0002t0001g0009
a0002c0002t0001g0189
a0002c0002t0001g0210
 8 HG02615.hp1
HG02818.hp1
HG02886.hp1
others(5): Show 
HG02615.hp1
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02976.hp1
HG03831.hp1
HG03927.hp2
NA18906.hp1
 intron_variant MODIFIER c.911-350G>T
c.911-350G>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1642453
chrX:1642472
G
G
 C
C
 69 a0001c0001t0001g0005
a0001c0001t0001g0008
a0001c0001t0001g0024
others(66): Show 
a0001c0001t0001g0005
a0001c0001t0001g0008
a0001c0001t0001g0024
a0001c0001t0001g0029
a0001c0001t0001g0046
a0001c0001t0001g0053
a0001c0001t0001g0071
a0001c0001t0001g0079
a0001c0001t0001g0082
a0001c0001t0001g0097
a0001c0001t0001g0100
a0001c0001t0001g0102
a0001c0001t0001g0103
a0001c0001t0001g0121
a0001c0001t0001g0158
a0001c0001t0001g0192
a0001c0001t0001g0194
a0001c0001t0001g0206
a0001c0001t0001g0211
a0001c0001t0002g0120
a0001c0001t0002g0132
a0001c0001t0002g0134
a0001c0001t0002g0145
a0001c0001t0002g0147
a0001c0001t0002g0190
a0001c0001t0003g0090
a0001c0003t0001g0013
a0001c0003t0001g0022
a0001c0003t0001g0033
a0001c0003t0001g0051
a0001c0003t0001g0094
a0001c0003t0001g0193
a0001c0003t0002g0133
a0001c0003t0002g0149
a0001c0003t0002g0173
a0002c0002t0001g0003
a0002c0002t0001g0009
a0002c0002t0001g0018
a0002c0002t0001g0044
a0002c0002t0001g0052
a0002c0002t0001g0066
a0002c0002t0001g0073
a0002c0002t0001g0087
a0002c0002t0001g0098
a0002c0002t0001g0125
a0002c0002t0001g0126
a0002c0002t0001g0130
a0002c0002t0001g0151
a0002c0002t0001g0175
a0002c0002t0001g0189
a0002c0002t0001g0210
a0002c0002t0001g0222
a0002c0002t0002g0096
a0002c0002t0002g0146
a0002c0002t0002g0154
a0002c0002t0002g0162
a0002c0002t0002g0172
a0002c0002t0002g0198
a0002c0006t0001g0104
a0002c0006t0001g0187
a0002c0010t0001g0010
a0003c0005t0001g0202
a0003c0009t0001g0011
a0005c0016t0001g0045
a0007c0012t0001g0109
a0008c0013t0001g0101
a0009c0014t0002g0075
a0011c0008t0001g0034
a0014c0018t0001g0060
 69 HG00423.hp2
HG00438.hp1
HG00438.hp2
others(66): Show 
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp2
HG00639.hp2
HG00733.hp2
HG01123.hp2
HG01168.hp1
HG01256.hp1
HG01257.hp1
HG01257.hp2
HG01346.hp1
HG02004.hp2
HG02523.hp2
HG02615.hp1
HG02622.hp2
HG02683.hp1
HG02683.hp2
HG02723.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02922.hp1
HG02976.hp1
HG03041.hp1
HG03041.hp2
HG03195.hp2
HG03239.hp2
HG03486.hp2
HG03669.hp2
HG03831.hp1
HG03834.hp1
HG03927.hp2
HG04184.hp1
HG04204.hp2
HG06807.hp2
NA18906.hp1
NA18939.hp1
NA18939.hp2
NA18949.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18956.hp2
NA18963.hp1
NA18963.hp2
NA18969.hp1
NA18975.hp1
NA18980.hp2
NA18988.hp1
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19010.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19057.hp1
NA19062.hp1
NA19064.hp2
NA19074.hp2
NA19085.hp1
NA19240.hp2
NA20129.hp1
 intron_variant MODIFIER c.911-331G>C
c.911-331G>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1642472
chrX:1642610
C
C
 T
T
 1 a0001c0001t0002g0145
a0001c0001t0002g0145
 1 HG06807.hp2
HG06807.hp2
 intron_variant MODIFIER c.911-193C>T
c.911-193C>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1642610
chrX:1642661
G
G
 C
C
 11 a0001c0001t0001g0027
a0001c0001t0001g0035
a0001c0001t0001g0037
others(8): Show 
a0001c0001t0001g0027
a0001c0001t0001g0035
a0001c0001t0001g0037
a0001c0001t0002g0141
a0001c0001t0002g0153
a0001c0001t0002g0168
a0001c0001t0002g0180
a0001c0001t0005g0165
a0002c0002t0001g0031
a0002c0002t0001g0057
a0002c0002t0002g0198
 11 HG00639.hp1
HG01123.hp2
HG01361.hp2
others(8): Show 
HG00639.hp1
HG01123.hp2
HG01361.hp2
HG01496.hp2
HG01978.hp1
HG01981.hp2
HG02004.hp1
HG02148.hp1
HG02273.hp1
HG02293.hp1
HG03491.hp2
 intron_variant MODIFIER c.911-142G>C
c.911-142G>C
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1642661
chrX:1642740
G
G
 T
T
 6 a0001c0001t0001g0014
a0001c0001t0001g0017
a0001c0001t0001g0019
others(3): Show 
a0001c0001t0001g0014
a0001c0001t0001g0017
a0001c0001t0001g0019
a0001c0001t0001g0021
a0002c0002t0001g0002
a0002c0002t0002g0160
 6 HG00741.hp2
HG03195.hp1
HG03453.hp1
others(3): Show 
HG00741.hp2
HG03195.hp1
HG03453.hp1
HG03516.hp2
HG06807.hp1
NA20300.hp1
 intron_variant MODIFIER c.911-63G>T
c.911-63G>T
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1642740
chrX:1642754
T
T
 A
A
 2 a0001c0001t0001g0079
a0001c0001t0002g0147
a0001c0001t0001g0079
a0001c0001t0002g0147
 2 NA18954.hp1
NA18955.hp1
NA18954.hp1
NA18955.hp1
 intron_variant MODIFIER c.911-49T>A
c.911-49T>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1642754
chrX:1642780
G
G
 A
A
 1 a0002c0010t0001g0010
a0002c0010t0001g0010
 1 HG02622.hp2
HG02622.hp2
 intron_variant MODIFIER c.911-23G>A
c.911-23G>A
ASMT ENSG00000196433.13 transcript ENST00000381241.9 protein_coding 8/8 chrX 1642780

  • 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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