geneid | 9843 |
---|---|
ensemblid | ENSG00000089472.18 |
hgncid | 4866 |
symbol | HEPH |
name | hephaestin |
refseq_nuc | NM_001367233.3 |
refseq_prot | NP_001354162.2 |
ensembl_nuc | ENST00000343002.7 |
ensembl_prot | ENSP00000343939.2 |
mane_status | MANE Select |
chr | chrX |
start | 66164247 |
end | 66267389 |
strand | + |
ver | v1.2 |
region | chrX:66164247-66267389 |
region5000 | chrX:66159247-66272389 |
regionname0 | HEPH_chrX_66164247_66267389 |
regionname5000 | HEPH_chrX_66159247_66272389 |
ahapid | grch38/chm13v2 | alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001 | 1/1 | 1158 | 204 | 62 | 45 | 69 | 8 | 18 | 50 | HEPH_chrX_66159247_66272389 | HEPH | copy fasta | chrX | 66159247 | 66272389 |
a0002 | 0/0 | 1158 | 3 | 3 | 0 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | copy fasta | chrX | 66159247 | 66272389 |
a0003 | 0/0 | 1158 | 2 | 0 | 0 | 2 | 0 | 0 | 2 | HEPH_chrX_66159247_66272389 | HEPH | copy fasta | chrX | 66159247 | 66272389 |
a0004 | 0/0 | 1158 | 2 | 0 | 0 | 2 | 0 | 0 | 2 | HEPH_chrX_66159247_66272389 | HEPH | copy fasta | chrX | 66159247 | 66272389 |
a0005 | 0/0 | 1158 | 2 | 0 | 0 | 2 | 0 | 0 | 2 | HEPH_chrX_66159247_66272389 | HEPH | copy fasta | chrX | 66159247 | 66272389 |
a0006 | 0/0 | 1158 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | copy fasta | chrX | 66159247 | 66272389 |
a0007 | 0/0 | 975 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | HEPH_chrX_66159247_66272389 | HEPH | copy fasta | chrX | 66159247 | 66272389 |
a0008 | 0/0 | 1158 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | HEPH_chrX_66159247_66272389 | HEPH | copy fasta | chrX | 66159247 | 66272389 |
a0009 | 0/0 | 1158 | 1 | 0 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | copy fasta | chrX | 66159247 | 66272389 |
a0010 | 0/0 | 1158 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | copy fasta | chrX | 66159247 | 66272389 |
chapid | grch38/chm13v2 | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | cseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
c0001 | 1/1 | 3477 | 121 | 3 | 27 | 68 | 6 | 15 | HEPH_chrX_66159247_66272389 | HEPH | copy fasta | chrX | 66159247 | 66272389 |
c0002 | 0/0 | 3477 | 56 | 38 | 13 | 0 | 2 | 3 | HEPH_chrX_66159247_66272389 | HEPH | copy fasta | chrX | 66159247 | 66272389 |
c0003 | 0/0 | 3477 | 24 | 19 | 5 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | copy fasta | chrX | 66159247 | 66272389 |
c0004 | 0/0 | 3477 | 3 | 3 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | copy fasta | chrX | 66159247 | 66272389 |
c0005 | 0/0 | 3477 | 2 | 0 | 0 | 2 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | copy fasta | chrX | 66159247 | 66272389 |
c0006 | 0/0 | 3477 | 2 | 0 | 0 | 2 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | copy fasta | chrX | 66159247 | 66272389 |
c0007 | 0/0 | 3477 | 2 | 0 | 0 | 2 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | copy fasta | chrX | 66159247 | 66272389 |
c0008 | 0/0 | 3477 | 1 | 0 | 0 | 0 | 1 | 0 | HEPH_chrX_66159247_66272389 | HEPH | copy fasta | chrX | 66159247 | 66272389 |
c0009 | 0/0 | 3477 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | copy fasta | chrX | 66159247 | 66272389 |
c0010 | 0/0 | 3477 | 1 | 1 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | copy fasta | chrX | 66159247 | 66272389 |
c0011 | 0/0 | 3477 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | copy fasta | chrX | 66159247 | 66272389 |
c0012 | 0/0 | 3478 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | copy fasta | chrX | 66159247 | 66272389 |
c0013 | 0/0 | 3477 | 1 | 0 | 1 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | copy fasta | chrX | 66159247 | 66272389 |
c0014 | 0/0 | 3477 | 1 | 1 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | copy fasta | chrX | 66159247 | 66272389 |
c0015 | 0/0 | 3477 | 1 | 1 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | copy fasta | chrX | 66159247 | 66272389 |
thapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
t0001 | 1/1 | 955 | 158 | 25 | 33 | 76 | 7 | 15 | HEPH_chrX_66159247_66272389 | HEPH | copy fasta | chrX | 66159247 | 66272389 |
t0002 | 0/0 | 955 | 58 | 39 | 13 | 1 | 2 | 3 | HEPH_chrX_66159247_66272389 | HEPH | copy fasta | chrX | 66159247 | 66272389 |
t0003 | 0/0 | 955 | 2 | 2 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | copy fasta | chrX | 66159247 | 66272389 |
ghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|
g0001 | 0/0 | 2 | 0 | 2 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
g0002 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
g0003 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
g0004 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
g0005 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
g0006 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
g0007 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
g0008 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
g0009 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
g0010 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
g0011 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
g0012 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
g0013 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
g0014 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
g0015 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
g0016 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
g0017 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
g0018 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
g0019 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
g0020 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
g0021 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
g0022 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
g0023 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
g0024 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
g0025 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
g0026 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
g0027 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
g0028 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
g0029 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
g0030 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
g0031 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
g0032 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
g0033 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
g0034 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
g0035 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
g0036 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
g0037 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
g0038 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
g0039 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
g0040 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
g0041 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
g0042 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
g0043 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
g0044 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
g0045 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
g0046 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
g0047 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
g0048 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
g0049 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
g0050 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
g0051 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
g0052 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
g0053 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
g0054 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
g0055 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
g0056 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
g0057 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
g0058 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
g0059 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
g0060 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
g0061 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
g0062 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
g0063 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
g0064 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
g0065 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
g0066 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
g0067 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
g0068 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
g0069 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
g0070 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
g0071 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
g0072 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
g0073 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
g0074 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
g0075 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
g0076 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
g0077 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
g0078 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
g0079 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
g0080 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
g0081 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
g0082 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
g0083 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
g0084 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
g0085 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
g0086 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
g0087 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
g0088 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
g0089 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
g0090 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
g0091 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
g0092 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
g0093 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
g0094 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
g0095 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
g0096 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
g0097 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
g0098 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
g0099 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
g0100 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
g0101 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
g0102 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
g0103 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
g0104 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
g0105 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
g0106 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
g0107 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
g0108 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
g0109 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
g0110 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
g0111 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
g0112 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
g0113 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
g0114 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
g0115 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
g0116 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
g0117 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
g0118 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
g0119 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
g0120 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
g0121 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
g0122 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
g0123 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
g0124 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
g0125 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
g0126 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
g0127 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
g0128 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
g0129 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
g0130 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
g0131 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
g0132 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
g0133 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
g0134 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
g0135 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
g0136 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
g0137 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
g0138 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
g0139 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
g0140 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
g0141 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
g0142 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
g0143 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
g0144 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
g0145 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
g0146 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
g0147 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
g0148 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
g0149 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
g0150 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
g0151 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
g0152 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
g0153 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
g0154 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
g0155 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
g0156 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
g0157 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
g0158 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
g0159 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
g0160 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
g0161 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
g0162 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
g0163 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
g0164 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
g0165 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
g0166 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
g0167 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
g0168 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
g0169 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
g0170 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
g0171 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
g0172 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
g0173 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
g0174 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
g0175 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
g0176 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
g0177 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
g0178 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
g0179 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
g0180 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
g0181 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
g0182 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
g0183 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
g0184 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
g0185 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
g0186 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
g0187 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
g0188 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
g0189 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
g0190 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
g0191 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
g0192 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
g0193 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
g0194 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
g0195 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
g0196 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
g0197 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
g0198 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
g0199 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
g0200 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
g0201 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
g0202 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
g0203 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
g0204 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
g0205 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
g0206 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
g0207 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
g0208 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
g0209 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
g0210 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
g0211 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
g0212 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
g0213 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
g0214 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
g0215 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
g0216 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
g0217 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
achapid | grch38/chm13v2 | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | cseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001 | 1/1 | 3477 | 121 | 3 | 27 | 68 | 6 | 15 | HEPH_chrX_66159247_66272389 | HEPH | copy fasta | chrX | 66159247 | 66272389 |
a0001c0002 | 0/0 | 3477 | 56 | 38 | 13 | 0 | 2 | 3 | HEPH_chrX_66159247_66272389 | HEPH | copy fasta | chrX | 66159247 | 66272389 |
a0001c0003 | 0/0 | 3477 | 24 | 19 | 5 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | copy fasta | chrX | 66159247 | 66272389 |
a0001c0010 | 0/0 | 3477 | 1 | 1 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | copy fasta | chrX | 66159247 | 66272389 |
a0001c0011 | 0/0 | 3477 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | copy fasta | chrX | 66159247 | 66272389 |
a0001c0014 | 0/0 | 3477 | 1 | 1 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | copy fasta | chrX | 66159247 | 66272389 |
a0002c0004 | 0/0 | 3477 | 3 | 3 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | copy fasta | chrX | 66159247 | 66272389 |
a0003c0007 | 0/0 | 3477 | 2 | 0 | 0 | 2 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | copy fasta | chrX | 66159247 | 66272389 |
a0004c0005 | 0/0 | 3477 | 2 | 0 | 0 | 2 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | copy fasta | chrX | 66159247 | 66272389 |
a0005c0006 | 0/0 | 3477 | 2 | 0 | 0 | 2 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | copy fasta | chrX | 66159247 | 66272389 |
a0006c0013 | 0/0 | 3477 | 1 | 0 | 1 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | copy fasta | chrX | 66159247 | 66272389 |
a0007c0012 | 0/0 | 3478 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | copy fasta | chrX | 66159247 | 66272389 |
a0008c0009 | 0/0 | 3477 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | copy fasta | chrX | 66159247 | 66272389 |
a0009c0008 | 0/0 | 3477 | 1 | 0 | 0 | 0 | 1 | 0 | HEPH_chrX_66159247_66272389 | HEPH | copy fasta | chrX | 66159247 | 66272389 |
a0010c0015 | 0/0 | 3477 | 1 | 1 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | copy fasta | chrX | 66159247 | 66272389 |
acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001t0001 | 1/1 | 4431 | 120 | 3 | 27 | 67 | 6 | 15 | HEPH_chrX_66159247_66272389 | HEPH | copy fasta | chrX | 66159247 | 66272389 |
a0001c0001t0002 | 0/0 | 4431 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | copy fasta | chrX | 66159247 | 66272389 |
a0001c0002t0001 | 0/0 | 4431 | 11 | 7 | 4 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | copy fasta | chrX | 66159247 | 66272389 |
a0001c0002t0002 | 0/0 | 4431 | 43 | 29 | 9 | 0 | 2 | 3 | HEPH_chrX_66159247_66272389 | HEPH | copy fasta | chrX | 66159247 | 66272389 |
a0001c0002t0003 | 0/0 | 4431 | 2 | 2 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | copy fasta | chrX | 66159247 | 66272389 |
a0001c0003t0001 | 0/0 | 4431 | 15 | 13 | 2 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | copy fasta | chrX | 66159247 | 66272389 |
a0001c0003t0002 | 0/0 | 4431 | 9 | 6 | 3 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | copy fasta | chrX | 66159247 | 66272389 |
a0001c0010t0001 | 0/0 | 4431 | 1 | 1 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | copy fasta | chrX | 66159247 | 66272389 |
a0001c0011t0001 | 0/0 | 4431 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | copy fasta | chrX | 66159247 | 66272389 |
a0001c0014t0002 | 0/0 | 4431 | 1 | 1 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | copy fasta | chrX | 66159247 | 66272389 |
a0002c0004t0002 | 0/0 | 4431 | 3 | 3 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | copy fasta | chrX | 66159247 | 66272389 |
a0003c0007t0001 | 0/0 | 4431 | 2 | 0 | 0 | 2 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | copy fasta | chrX | 66159247 | 66272389 |
a0004c0005t0001 | 0/0 | 4431 | 2 | 0 | 0 | 2 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | copy fasta | chrX | 66159247 | 66272389 |
a0005c0006t0001 | 0/0 | 4431 | 2 | 0 | 0 | 2 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | copy fasta | chrX | 66159247 | 66272389 |
a0006c0013t0002 | 0/0 | 4431 | 1 | 0 | 1 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | copy fasta | chrX | 66159247 | 66272389 |
a0007c0012t0001 | 0/0 | 4432 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | copy fasta | chrX | 66159247 | 66272389 |
a0008c0009t0001 | 0/0 | 4431 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | copy fasta | chrX | 66159247 | 66272389 |
a0009c0008t0001 | 0/0 | 4431 | 1 | 0 | 0 | 0 | 1 | 0 | HEPH_chrX_66159247_66272389 | HEPH | copy fasta | chrX | 66159247 | 66272389 |
a0010c0015t0001 | 0/0 | 4431 | 1 | 1 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | copy fasta | chrX | 66159247 | 66272389 |
actghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001t0001g0003 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
a0001c0001t0001g0004 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
a0001c0001t0001g0005 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
a0001c0001t0001g0084 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
a0001c0001t0001g0085 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
a0001c0001t0001g0086 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
a0001c0001t0001g0087 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
a0001c0001t0001g0088 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
a0001c0001t0001g0089 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
a0001c0001t0001g0090 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
a0001c0001t0001g0093 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
a0001c0001t0001g0094 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
a0001c0001t0001g0095 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
a0001c0001t0001g0096 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
a0001c0001t0001g0097 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
a0001c0001t0001g0098 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
a0001c0001t0001g0099 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
a0001c0001t0001g0100 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
a0001c0001t0001g0101 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
a0001c0001t0001g0102 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
a0001c0001t0001g0103 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
a0001c0001t0001g0105 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
a0001c0001t0001g0106 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
a0001c0001t0001g0107 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
a0001c0001t0001g0108 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
a0001c0001t0001g0109 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
a0001c0001t0001g0110 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
a0001c0001t0001g0111 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
a0001c0001t0001g0112 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
a0001c0001t0001g0113 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
a0001c0001t0001g0114 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
a0001c0001t0001g0115 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
a0001c0001t0001g0116 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
a0001c0001t0001g0117 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
a0001c0001t0001g0118 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
a0001c0001t0001g0119 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
a0001c0001t0001g0120 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
a0001c0001t0001g0121 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
a0001c0001t0001g0122 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
a0001c0001t0001g0123 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
a0001c0001t0001g0124 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
a0001c0001t0001g0125 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
a0001c0001t0001g0126 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
a0001c0001t0001g0127 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
a0001c0001t0001g0128 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
a0001c0001t0001g0130 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
a0001c0001t0001g0131 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
a0001c0001t0001g0132 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
a0001c0001t0001g0133 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
a0001c0001t0001g0134 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
a0001c0001t0001g0135 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
a0001c0001t0001g0136 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
a0001c0001t0001g0137 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
a0001c0001t0001g0138 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
a0001c0001t0001g0139 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
a0001c0001t0001g0140 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
a0001c0001t0001g0141 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
a0001c0001t0001g0142 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
a0001c0001t0001g0143 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
a0001c0001t0001g0144 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
a0001c0001t0001g0145 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
a0001c0001t0001g0146 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
a0001c0001t0001g0147 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
a0001c0001t0001g0148 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
a0001c0001t0001g0149 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
a0001c0001t0001g0150 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
a0001c0001t0001g0151 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
a0001c0001t0001g0152 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
a0001c0001t0001g0153 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
a0001c0001t0001g0154 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
a0001c0001t0001g0155 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
a0001c0001t0001g0156 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
a0001c0001t0001g0157 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
a0001c0001t0001g0158 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
a0001c0001t0001g0160 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
a0001c0001t0001g0161 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
a0001c0001t0001g0162 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
a0001c0001t0001g0163 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
a0001c0001t0001g0164 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
a0001c0001t0001g0167 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
a0001c0001t0001g0168 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
a0001c0001t0001g0169 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
a0001c0001t0001g0170 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
a0001c0001t0001g0171 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
a0001c0001t0001g0172 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
a0001c0001t0001g0173 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
a0001c0001t0001g0174 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
a0001c0001t0001g0175 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
a0001c0001t0001g0176 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
a0001c0001t0001g0177 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
a0001c0001t0001g0178 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
a0001c0001t0001g0179 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
a0001c0001t0001g0180 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
a0001c0001t0001g0181 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
a0001c0001t0001g0182 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
a0001c0001t0001g0183 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
a0001c0001t0001g0184 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
a0001c0001t0001g0186 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
a0001c0001t0001g0187 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
a0001c0001t0001g0188 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
a0001c0001t0001g0189 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
a0001c0001t0001g0190 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
a0001c0001t0001g0191 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
a0001c0001t0001g0192 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
a0001c0001t0001g0194 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
a0001c0001t0001g0195 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
a0001c0001t0001g0196 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
a0001c0001t0001g0197 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
a0001c0001t0001g0198 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
a0001c0001t0001g0199 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
a0001c0001t0001g0200 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
a0001c0001t0001g0201 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
a0001c0001t0001g0202 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
a0001c0001t0001g0203 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
a0001c0001t0001g0204 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
a0001c0001t0001g0205 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
a0001c0001t0001g0206 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
a0001c0001t0001g0211 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
a0001c0001t0001g0212 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
a0001c0001t0001g0213 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
a0001c0001t0002g0091 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
a0001c0002t0001g0006 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
a0001c0002t0001g0022 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
a0001c0002t0001g0023 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
a0001c0002t0001g0024 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
a0001c0002t0001g0042 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
a0001c0002t0001g0045 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
a0001c0002t0001g0055 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
a0001c0002t0001g0057 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
a0001c0002t0001g0058 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
a0001c0002t0001g0214 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
a0001c0002t0001g0215 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
a0001c0002t0002g0009 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
a0001c0002t0002g0010 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
a0001c0002t0002g0011 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
a0001c0002t0002g0032 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
a0001c0002t0002g0034 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
a0001c0002t0002g0035 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
a0001c0002t0002g0036 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
a0001c0002t0002g0037 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
a0001c0002t0002g0038 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
a0001c0002t0002g0039 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
a0001c0002t0002g0040 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
a0001c0002t0002g0041 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
a0001c0002t0002g0043 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
a0001c0002t0002g0044 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
a0001c0002t0002g0046 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
a0001c0002t0002g0047 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
a0001c0002t0002g0048 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
a0001c0002t0002g0049 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
a0001c0002t0002g0050 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
a0001c0002t0002g0051 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
a0001c0002t0002g0052 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
a0001c0002t0002g0053 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
a0001c0002t0002g0054 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
a0001c0002t0002g0056 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
a0001c0002t0002g0059 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
a0001c0002t0002g0060 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
a0001c0002t0002g0061 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
a0001c0002t0002g0062 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
a0001c0002t0002g0063 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
a0001c0002t0002g0064 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
a0001c0002t0002g0065 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
a0001c0002t0002g0066 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
a0001c0002t0002g0067 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
a0001c0002t0002g0068 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
a0001c0002t0002g0069 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
a0001c0002t0002g0070 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
a0001c0002t0002g0071 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
a0001c0002t0002g0072 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
a0001c0002t0002g0073 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
a0001c0002t0002g0074 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
a0001c0002t0002g0075 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
a0001c0002t0002g0216 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
a0001c0002t0002g0217 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
a0001c0002t0003g0031 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
a0001c0002t0003g0033 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
a0001c0003t0001g0001 | 0/0 | 2 | 0 | 2 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
a0001c0003t0001g0002 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
a0001c0003t0001g0017 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
a0001c0003t0001g0018 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
a0001c0003t0001g0019 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
a0001c0003t0001g0020 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
a0001c0003t0001g0021 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
a0001c0003t0001g0025 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
a0001c0003t0001g0027 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
a0001c0003t0001g0028 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
a0001c0003t0001g0029 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
a0001c0003t0001g0030 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
a0001c0003t0001g0077 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
a0001c0003t0001g0080 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
a0001c0003t0002g0007 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
a0001c0003t0002g0008 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
a0001c0003t0002g0012 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
a0001c0003t0002g0016 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
a0001c0003t0002g0026 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
a0001c0003t0002g0081 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
a0001c0003t0002g0207 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
a0001c0003t0002g0208 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
a0001c0003t0002g0209 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
a0001c0010t0001g0079 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
a0001c0011t0001g0129 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
a0001c0014t0002g0210 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
a0002c0004t0002g0013 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
a0002c0004t0002g0014 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
a0002c0004t0002g0015 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
a0003c0007t0001g0165 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
a0003c0007t0001g0166 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
a0004c0005t0001g0185 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
a0004c0005t0001g0193 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
a0005c0006t0001g0082 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
a0005c0006t0001g0083 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
a0006c0013t0002g0076 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
a0007c0012t0001g0104 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
a0008c0009t0001g0159 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
a0009c0008t0001g0092 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
a0010c0015t0001g0078 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|
HG00099 | hp1 | a0001 | c0001 | t0001 | g0200 | EUR | GBR | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
HG00099 | hp2 | a0001 | c0002 | t0002 | g0066 | EUR | GBR | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
HG00140 | hp1 | a0001 | c0001 | t0001 | g0181 | EUR | GBR | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
HG00280 | hp1 | a0009 | c0008 | t0001 | g0092 | EUR | FIN | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
HG00597 | hp1 | a0001 | c0001 | t0001 | g0145 | EAS | CHS | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
HG00597 | hp2 | a0001 | c0001 | t0001 | g0178 | EAS | CHS | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
HG00609 | hp1 | a0001 | c0001 | t0001 | g0116 | EAS | CHS | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
HG00621 | hp1 | a0001 | c0001 | t0001 | g0123 | EAS | CHS | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
HG00639 | hp1 | a0001 | c0001 | t0001 | g0160 | AMR | PUR | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
HG00639 | hp2 | a0001 | c0001 | t0001 | g0190 | AMR | PUR | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
HG00642 | hp1 | a0001 | c0001 | t0001 | g0154 | AMR | PUR | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
HG00673 | hp1 | a0001 | c0001 | t0002 | g0091 | EAS | CHS | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
HG00733 | hp1 | a0001 | c0002 | t0002 | g0069 | AMR | PUR | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
HG00733 | hp2 | a0001 | c0001 | t0001 | g0174 | AMR | PUR | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
HG00735 | hp1 | a0001 | c0003 | t0002 | g0008 | AMR | PUR | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
HG00735 | hp2 | a0001 | c0001 | t0001 | g0150 | AMR | PUR | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
HG00738 | hp1 | a0001 | c0003 | t0002 | g0207 | AMR | PUR | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
HG00741 | hp1 | a0001 | c0002 | t0001 | g0058 | AMR | PUR | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
HG00741 | hp2 | a0001 | c0001 | t0001 | g0170 | AMR | PUR | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
HG01069 | hp1 | a0001 | c0001 | t0001 | g0136 | AMR | PUR | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
HG01070 | hp1 | a0001 | c0001 | t0001 | g0118 | AMR | PUR | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
HG01070 | hp2 | a0001 | c0001 | t0001 | g0202 | AMR | PUR | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
HG01074 | hp1 | a0001 | c0001 | t0001 | g0203 | AMR | PUR | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
HG01081 | hp1 | a0001 | c0003 | t0002 | g0208 | AMR | PUR | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
HG01081 | hp2 | a0001 | c0002 | t0001 | g0057 | AMR | PUR | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
HG01099 | hp1 | a0001 | c0001 | t0001 | g0195 | AMR | PUR | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
HG01106 | hp1 | a0001 | c0001 | t0001 | g0188 | AMR | PUR | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
HG01109 | hp1 | a0001 | c0001 | t0001 | g0153 | AMR | PUR | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
HG01167 | hp1 | a0001 | c0003 | t0001 | g0001 | AMR | PUR | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
HG01169 | hp1 | a0001 | c0002 | t0002 | g0067 | AMR | PUR | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
HG01169 | hp2 | a0001 | c0003 | t0001 | g0001 | AMR | PUR | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
HG01192 | hp1 | a0001 | c0002 | t0001 | g0055 | AMR | PUR | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
HG01243 | hp1 | a0001 | c0002 | t0002 | g0010 | AMR | PUR | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
HG01255 | hp1 | a0001 | c0002 | t0002 | g0046 | AMR | CLM | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
HG01256 | hp1 | a0001 | c0001 | t0001 | g0098 | AMR | CLM | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
HG01257 | hp1 | a0001 | c0001 | t0001 | g0180 | AMR | CLM | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
HG01257 | hp2 | a0001 | c0001 | t0001 | g0163 | AMR | CLM | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
HG01258 | hp1 | a0001 | c0001 | t0001 | g0161 | AMR | CLM | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
HG01261 | hp1 | a0001 | c0001 | t0001 | g0162 | AMR | CLM | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
HG01358 | hp1 | a0001 | c0002 | t0001 | g0006 | AMR | CLM | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
HG01433 | hp1 | a0001 | c0001 | t0001 | g0152 | AMR | CLM | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
HG01496 | hp1 | a0001 | c0001 | t0001 | g0164 | AMR | CLM | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
HG01496 | hp2 | a0001 | c0002 | t0002 | g0061 | AMR | CLM | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
HG01515 | hp1 | a0001 | c0001 | t0001 | g0169 | EUR | IBS | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
HG01516 | hp1 | a0001 | c0002 | t0002 | g0056 | EUR | IBS | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
HG01516 | hp2 | a0001 | c0001 | t0001 | g0101 | EUR | IBS | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
HG01884 | hp1 | a0001 | c0002 | t0002 | g0041 | AFR | ACB | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
HG01884 | hp2 | a0001 | c0002 | t0002 | g0034 | AFR | ACB | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
HG01891 | hp1 | a0002 | c0004 | t0002 | g0014 | AFR | ACB | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
HG01891 | hp2 | a0001 | c0002 | t0002 | g0060 | AFR | ACB | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
HG01928 | hp1 | a0001 | c0002 | t0002 | g0064 | AMR | PEL | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
HG01934 | hp1 | a0001 | c0001 | t0001 | g0135 | AMR | PEL | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
HG01943 | hp1 | a0001 | c0001 | t0001 | g0146 | AMR | PEL | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
HG01952 | hp1 | a0001 | c0001 | t0001 | g0095 | AMR | PEL | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
HG01978 | hp1 | a0001 | c0001 | t0001 | g0133 | AMR | PEL | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
HG01978 | hp2 | a0001 | c0002 | t0002 | g0063 | AMR | PEL | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
HG01993 | hp1 | a0001 | c0002 | t0002 | g0062 | AMR | PEL | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
HG01993 | hp2 | a0001 | c0001 | t0001 | g0134 | AMR | PEL | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
HG02004 | hp1 | a0001 | c0001 | t0001 | g0132 | AMR | PEL | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
HG02004 | hp2 | a0001 | c0002 | t0002 | g0065 | AMR | PEL | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
HG02015 | hp1 | a0001 | c0001 | t0001 | g0171 | EAS | KHV | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
HG02027 | hp1 | a0001 | c0001 | t0001 | g0131 | EAS | KHV | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
HG02040 | hp1 | a0001 | c0001 | t0001 | g0126 | EAS | KHV | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
HG02055 | hp1 | a0001 | c0003 | t0001 | g0077 | AFR | ACB | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
HG02056 | hp1 | a0001 | c0001 | t0001 | g0138 | EAS | KHV | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
HG02071 | hp1 | a0001 | c0001 | t0001 | g0144 | EAS | KHV | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
HG02074 | hp1 | a0001 | c0001 | t0001 | g0172 | EAS | KHV | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
HG02083 | hp1 | a0001 | c0001 | t0001 | g0099 | EAS | KHV | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
HG02129 | hp1 | a0001 | c0001 | t0001 | g0100 | EAS | KHV | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
HG02132 | hp1 | a0001 | c0001 | t0001 | g0168 | EAS | KHV | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
HG02135 | hp1 | a0001 | c0011 | t0001 | g0129 | EAS | KHV | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
HG02145 | hp1 | a0001 | c0002 | t0002 | g0044 | AFR | ACB | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
HG02165 | hp1 | a0001 | c0001 | t0001 | g0090 | EAS | CDX | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
HG02165 | hp2 | a0001 | c0001 | t0001 | g0179 | EAS | CDX | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
HG02257 | hp1 | a0001 | c0002 | t0002 | g0035 | AFR | ACB | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
HG02257 | hp2 | a0001 | c0002 | t0002 | g0039 | AFR | ACB | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
HG02258 | hp1 | a0001 | c0003 | t0001 | g0019 | AFR | ACB | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
HG02273 | hp1 | a0006 | c0013 | t0002 | g0076 | AMR | PEL | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
HG02273 | hp2 | a0001 | c0001 | t0001 | g0112 | AMR | PEL | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
HG02280 | hp1 | a0001 | c0002 | t0003 | g0031 | AFR | ACB | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
HG02280 | hp2 | a0001 | c0002 | t0001 | g0042 | AFR | ACB | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
HG02451 | hp1 | a0001 | c0003 | t0001 | g0020 | AFR | ACB | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
HG02451 | hp2 | a0001 | c0002 | t0002 | g0040 | AFR | ACB | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
HG02572 | hp1 | a0001 | c0002 | t0001 | g0045 | AFR | GWD | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
HG02602 | hp1 | a0001 | c0001 | t0001 | g0204 | SAS | PJL | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
HG02615 | hp1 | a0001 | c0001 | t0001 | g0114 | AFR | GWD | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
HG02615 | hp2 | a0001 | c0010 | t0001 | g0079 | AFR | GWD | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
HG02622 | hp1 | a0001 | c0003 | t0001 | g0017 | AFR | GWD | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
HG02622 | hp2 | a0001 | c0003 | t0001 | g0028 | AFR | GWD | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
HG02630 | hp1 | a0001 | c0002 | t0001 | g0022 | AFR | GWD | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
HG02630 | hp2 | a0001 | c0002 | t0002 | g0011 | AFR | GWD | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
HG02647 | hp1 | a0001 | c0003 | t0002 | g0209 | AFR | GWD | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
HG02698 | hp1 | a0001 | c0001 | t0001 | g0196 | SAS | PJL | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
HG02717 | hp1 | a0001 | c0003 | t0002 | g0016 | AFR | GWD | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
HG02723 | hp1 | a0001 | c0002 | t0001 | g0024 | AFR | GWD | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
HG02723 | hp2 | a0001 | c0002 | t0002 | g0043 | AFR | GWD | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
HG02735 | hp1 | a0001 | c0001 | t0001 | g0206 | SAS | PJL | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
HG02738 | hp1 | a0001 | c0001 | t0001 | g0141 | SAS | PJL | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
HG02809 | hp1 | a0010 | c0015 | t0001 | g0078 | AFR | GWD | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
HG02809 | hp2 | a0002 | c0004 | t0002 | g0013 | AFR | GWD | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
HG02886 | hp1 | a0001 | c0002 | t0002 | g0038 | AFR | GWD | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
HG02886 | hp2 | a0001 | c0002 | t0001 | g0215 | AFR | GWD | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
HG02895 | hp1 | a0001 | c0002 | t0002 | g0050 | AFR | GWD | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
HG02896 | hp1 | a0001 | c0003 | t0002 | g0007 | AFR | GWD | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
HG02896 | hp2 | a0001 | c0002 | t0001 | g0023 | AFR | GWD | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
HG02922 | hp1 | a0001 | c0003 | t0001 | g0029 | AFR | ESN | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
HG02922 | hp2 | a0001 | c0002 | t0003 | g0033 | AFR | ESN | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
HG02965 | hp1 | a0001 | c0002 | t0002 | g0072 | AFR | ESN | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
HG02970 | hp1 | a0002 | c0004 | t0002 | g0015 | AFR | ESN | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
HG02970 | hp2 | a0001 | c0002 | t0002 | g0049 | AFR | ESN | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
HG02976 | hp1 | a0001 | c0002 | t0002 | g0047 | AFR | ESN | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
HG02976 | hp2 | a0001 | c0003 | t0001 | g0018 | AFR | ESN | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
HG03017 | hp1 | a0001 | c0001 | t0001 | g0201 | SAS | PJL | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
HG03041 | hp1 | a0001 | c0003 | t0002 | g0026 | AFR | GWD | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
HG03041 | hp2 | a0001 | c0001 | t0001 | g0113 | AFR | GWD | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
HG03098 | hp1 | a0001 | c0003 | t0001 | g0027 | AFR | MSL | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
HG03130 | hp1 | a0001 | c0003 | t0001 | g0080 | AFR | ESN | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
HG03139 | hp1 | a0001 | c0002 | t0002 | g0071 | AFR | ESN | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
HG03195 | hp1 | a0001 | c0002 | t0002 | g0073 | AFR | ESN | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
HG03195 | hp2 | a0001 | c0002 | t0002 | g0009 | AFR | ESN | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
HG03209 | hp1 | a0001 | c0002 | t0002 | g0037 | AFR | MSL | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
HG03225 | hp1 | a0001 | c0002 | t0002 | g0075 | AFR | MSL | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
HG03490 | hp1 | a0001 | c0001 | t0001 | g0199 | SAS | PJL | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
HG03492 | hp1 | a0001 | c0002 | t0002 | g0217 | SAS | PJL | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
HG03516 | hp1 | a0001 | c0002 | t0002 | g0074 | AFR | ESN | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
HG03516 | hp2 | a0001 | c0002 | t0002 | g0036 | AFR | ESN | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
HG03540 | hp1 | a0001 | c0002 | t0001 | g0214 | AFR | GWD | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
HG03540 | hp2 | a0001 | c0002 | t0002 | g0053 | AFR | GWD | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
HG03579 | hp1 | a0001 | c0002 | t0002 | g0052 | AFR | MSL | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
HG03654 | hp1 | a0001 | c0001 | t0001 | g0151 | SAS | PJL | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
HG03688 | hp1 | a0001 | c0001 | t0001 | g0192 | SAS | STU | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
HG03710 | hp1 | a0001 | c0001 | t0001 | g0191 | SAS | PJL | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
HG03834 | hp1 | a0001 | c0001 | t0001 | g0119 | SAS | BEB | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
HG03834 | hp2 | a0001 | c0002 | t0002 | g0216 | SAS | BEB | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
HG03942 | hp1 | a0001 | c0001 | t0001 | g0205 | SAS | BEB | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
HG04115 | hp1 | a0001 | c0001 | t0001 | g0149 | SAS | STU | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
HG04199 | hp1 | a0001 | c0002 | t0002 | g0059 | SAS | STU | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
HG04204 | hp1 | a0001 | c0001 | t0001 | g0182 | SAS | STU | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
HG04228 | hp1 | a0001 | c0001 | t0001 | g0108 | SAS | STU | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
NA18522 | hp1 | a0001 | c0002 | t0002 | g0032 | AFR | YRI | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
NA18612 | hp1 | a0001 | c0001 | t0001 | g0115 | EAS | CHB | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
NA18747 | hp1 | a0001 | c0001 | t0001 | g0005 | EAS | CHB | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
NA18906 | hp1 | a0001 | c0003 | t0001 | g0030 | AFR | YRI | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
NA18906 | hp2 | a0001 | c0002 | t0002 | g0054 | AFR | YRI | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
NA18940 | hp1 | a0001 | c0001 | t0001 | g0157 | EAS | JPT | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
NA18943 | hp1 | a0001 | c0001 | t0001 | g0085 | EAS | JPT | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
NA18944 | hp1 | a0001 | c0001 | t0001 | g0155 | EAS | JPT | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
NA18945 | hp1 | a0001 | c0001 | t0001 | g0109 | EAS | JPT | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
NA18948 | hp1 | a0001 | c0001 | t0001 | g0130 | EAS | JPT | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
NA18949 | hp1 | a0001 | c0001 | t0001 | g0167 | EAS | JPT | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
NA18949 | hp2 | a0001 | c0001 | t0001 | g0120 | EAS | JPT | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
NA18952 | hp1 | a0005 | c0006 | t0001 | g0082 | EAS | JPT | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
NA18953 | hp1 | a0001 | c0001 | t0001 | g0097 | EAS | JPT | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
NA18959 | hp1 | a0005 | c0006 | t0001 | g0083 | EAS | JPT | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
NA18960 | hp1 | a0001 | c0001 | t0001 | g0212 | EAS | JPT | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
NA18961 | hp1 | a0001 | c0001 | t0001 | g0125 | EAS | JPT | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
NA18962 | hp1 | a0001 | c0001 | t0001 | g0103 | EAS | JPT | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
NA18965 | hp1 | a0001 | c0001 | t0001 | g0106 | EAS | JPT | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
NA18966 | hp1 | a0001 | c0001 | t0001 | g0128 | EAS | JPT | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
NA18967 | hp1 | a0001 | c0001 | t0001 | g0173 | EAS | JPT | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
NA18970 | hp1 | a0001 | c0001 | t0001 | g0189 | EAS | JPT | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
NA18971 | hp1 | a0001 | c0001 | t0001 | g0143 | EAS | JPT | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
NA18974 | hp1 | a0001 | c0001 | t0001 | g0102 | EAS | JPT | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
NA18977 | hp1 | a0001 | c0001 | t0001 | g0184 | EAS | JPT | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
NA18982 | hp1 | a0001 | c0001 | t0001 | g0088 | EAS | JPT | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
NA18983 | hp1 | a0008 | c0009 | t0001 | g0159 | EAS | JPT | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
NA18984 | hp1 | a0003 | c0007 | t0001 | g0166 | EAS | JPT | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
NA18986 | hp1 | a0001 | c0001 | t0001 | g0158 | EAS | JPT | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
NA18988 | hp1 | a0001 | c0001 | t0001 | g0087 | EAS | JPT | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
NA18989 | hp1 | a0001 | c0001 | t0001 | g0177 | EAS | JPT | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
NA18990 | hp1 | a0001 | c0001 | t0001 | g0124 | EAS | JPT | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
NA18994 | hp1 | a0001 | c0001 | t0001 | g0004 | EAS | JPT | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
NA18995 | hp1 | a0001 | c0001 | t0001 | g0094 | EAS | JPT | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
NA19000 | hp1 | a0001 | c0001 | t0001 | g0211 | EAS | JPT | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
NA19004 | hp1 | a0001 | c0001 | t0001 | g0096 | EAS | JPT | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
NA19005 | hp1 | a0001 | c0001 | t0001 | g0089 | EAS | JPT | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
NA19006 | hp1 | a0001 | c0001 | t0001 | g0148 | EAS | JPT | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
NA19007 | hp1 | a0001 | c0001 | t0001 | g0213 | EAS | JPT | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
NA19009 | hp1 | a0003 | c0007 | t0001 | g0165 | EAS | JPT | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
NA19012 | hp1 | a0001 | c0001 | t0001 | g0003 | EAS | JPT | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
NA19030 | hp1 | a0001 | c0002 | t0002 | g0070 | AFR | LWK | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
NA19030 | hp2 | a0001 | c0002 | t0002 | g0068 | AFR | LWK | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
NA19043 | hp1 | a0001 | c0003 | t0002 | g0081 | AFR | LWK | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
NA19055 | hp1 | a0004 | c0005 | t0001 | g0185 | EAS | JPT | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
NA19056 | hp1 | a0001 | c0001 | t0001 | g0107 | EAS | JPT | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
NA19058 | hp1 | a0001 | c0001 | t0001 | g0117 | EAS | JPT | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
NA19060 | hp1 | a0001 | c0001 | t0001 | g0122 | EAS | JPT | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
NA19062 | hp1 | a0001 | c0001 | t0001 | g0140 | EAS | JPT | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
NA19063 | hp1 | a0001 | c0001 | t0001 | g0105 | EAS | JPT | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
NA19066 | hp1 | a0001 | c0001 | t0001 | g0186 | EAS | JPT | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
NA19067 | hp1 | a0007 | c0012 | t0001 | g0104 | EAS | JPT | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
NA19068 | hp1 | a0001 | c0001 | t0001 | g0194 | EAS | JPT | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
NA19070 | hp1 | a0001 | c0001 | t0001 | g0121 | EAS | JPT | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
NA19072 | hp1 | a0001 | c0001 | t0001 | g0183 | EAS | JPT | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
NA19075 | hp1 | a0001 | c0001 | t0001 | g0084 | EAS | JPT | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
NA19076 | hp1 | a0001 | c0001 | t0001 | g0139 | EAS | JPT | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
NA19079 | hp1 | a0001 | c0001 | t0001 | g0147 | EAS | JPT | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
NA19082 | hp1 | a0001 | c0001 | t0001 | g0187 | EAS | JPT | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
NA19083 | hp1 | a0001 | c0001 | t0001 | g0156 | EAS | JPT | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
NA19085 | hp1 | a0004 | c0005 | t0001 | g0193 | EAS | JPT | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
NA19086 | hp1 | a0001 | c0001 | t0001 | g0127 | EAS | JPT | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
NA19088 | hp1 | a0001 | c0001 | t0001 | g0176 | EAS | JPT | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
NA19089 | hp1 | a0001 | c0001 | t0001 | g0093 | EAS | JPT | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
NA19091 | hp1 | a0001 | c0001 | t0001 | g0086 | EAS | JPT | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
NA20129 | hp1 | a0001 | c0014 | t0002 | g0210 | AFR | ASW | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
NA20129 | hp2 | a0001 | c0002 | t0002 | g0051 | AFR | ASW | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
NA20752 | hp1 | a0001 | c0001 | t0001 | g0111 | EUR | TSI | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
NA20805 | hp1 | a0001 | c0001 | t0001 | g0142 | EUR | TSI | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
NA20905 | hp1 | a0001 | c0001 | t0001 | g0175 | SAS | GIH | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
HG02109 | hp1 | a0001 | c0002 | t0002 | g0048 | AFR | ACB | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
HG02109 | hp2 | a0001 | c0003 | t0001 | g0025 | AFR | ACB | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
HG02486 | hp1 | a0001 | c0003 | t0001 | g0002 | AFR | ACB | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
HG03471 | hp1 | a0001 | c0003 | t0001 | g0021 | AFR | MSL | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
NA18955 | hp1 | a0001 | c0001 | t0001 | g0110 | EAS | JPT | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
NA20300 | hp1 | a0001 | c0003 | t0002 | g0012 | AFR | USA | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
NA20300 | hp2 | a0001 | c0001 | t0001 | g0137 | AFR | USA | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
homoSapiens_chm13v2 | hp1 | a0001 | c0001 | t0001 | g0198 | REF | REF | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
homoSapiens_grch38 | hp1 | a0001 | c0001 | t0001 | g0197 | REF | REF | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
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:66170713
|
C | T | 1 | a0003 | 2 | NA18984.hp1 NA19009.hp1 |
missense_variant | MODERATE | c.143C>T | p.Thr48Met | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 2/21 | 380/4431 | 143/3477 | 48/1158 | chrX | 66170713 | ||
chrX:66197814
|
C | T | 1 | a0010 | 1 | HG02809.hp1 | missense_variant | MODERATE | c.1633C>T | p.Pro545Ser | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 10/21 | 1870/4431 | 1633/3477 | 545/1158 | chrX | 66197814 | ||
chrX:66197877
|
G | A | 1 | a0009 | 1 | HG00280.hp1 | missense_variant | MODERATE | c.1696G>A | p.Gly566Ser | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 10/21 | 1933/4431 | 1696/3477 | 566/1158 | chrX | 66197877 | ||
chrX:66200691
|
G | C | 1 | a0008 | 1 | NA18983.hp1 | missense_variant | MODERATE | c.2016G>C | p.Lys672Asn | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 12/21 | 2253/4431 | 2016/3477 | 672/1158 | chrX | 66200691 | ||
chrX:66203468
|
C | T | 1 | a0006 | 1 | HG02273.hp1 | missense_variant | MODERATE | c.2182C>T | p.Arg728Cys | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 13/21 | 2419/4431 | 2182/3477 | 728/1158 | chrX | 66203468 | ||
chrX:66255070
|
A | T | 1 | a0002 | 3 | HG01891.hp1 HG02809.hp2 HG02970.hp1 |
missense_variant | MODERATE | c.2599A>T | p.Arg867Trp | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 16/21 | 2836/4431 | 2599/3477 | 867/1158 | chrX | 66255070 | ||
chrX:66256156
|
C | G | 1 | a0005 | 2 | NA18952.hp1 NA18959.hp1 |
missense_variant | MODERATE | c.2722C>G | p.Leu908Val | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 17/21 | 2959/4431 | 2722/3477 | 908/1158 | chrX | 66256156 | ||
chrX:66256327
|
C | CT | 1 | a0007 | 1 | NA19067.hp1 | frameshift_variant&splice_region_variant | HIGH | c.2893_2894insT | p.His965fs | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 17/21 | 3131/4431 | 2894/3477 | 965/1158 | chrX | 66256327 | ||
chrX:66260173
|
G | C | 1 | a0004 | 2 | NA19055.hp1 NA19085.hp1 |
missense_variant | MODERATE | c.3110G>C | p.Ser1037Thr | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 19/21 | 3347/4431 | 3110/3477 | 1037/1158 | chrX | 66260173 |
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:66200649
|
C | T | 1 | a0001c0014 | 1 | NA20129.hp1 | synonymous_variant | LOW | c.1974C>T | p.Val658Val | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 12/21 | 2211/4431 | 1974/3477 | 658/1158 | chrX | 66200649 | ||
chrX:66207198
|
T | C | 7 | a0001c0002a0001c0003a0001c0010others(4): Show | 87 | HG00099.hp2 HG00733.hp1 HG00735.hp1 others(84): Show |
synonymous_variant | LOW | c.2295T>C | p.Tyr765Tyr | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 14/21 | 2532/4431 | 2295/3477 | 765/1158 | chrX | 66207198 | ||
chrX:66207282
|
A | G | 2 | a0001c0002a0006c0013 | 57 | HG00099.hp2 HG00733.hp1 HG00741.hp1 others(54): Show |
synonymous_variant | LOW | c.2379A>G | p.Thr793Thr | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 14/21 | 2616/4431 | 2379/3477 | 793/1158 | chrX | 66207282 | ||
chrX:66255096
|
T | C | 1 | a0001c0011 | 1 | HG02135.hp1 | synonymous_variant | LOW | c.2625T>C | p.Ser875Ser | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 16/21 | 2862/4431 | 2625/3477 | 875/1158 | chrX | 66255096 | ||
chrX:66258910
|
C | T | 1 | a0001c0010 | 1 | HG02615.hp2 | synonymous_variant | LOW | c.2967C>T | p.Tyr989Tyr | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 18/21 | 3204/4431 | 2967/3477 | 989/1158 | chrX | 66258910 | ||
chrX:66260132
|
T | C | 1 | a0004c0005 | 2 | NA19055.hp1 NA19085.hp1 |
synonymous_variant | LOW | c.3069T>C | p.Asp1023Asp | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 19/21 | 3306/4431 | 3069/3477 | 1023/1158 | chrX | 66260132 |
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:66164321
|
C | T | 7 | a0001c0001t0002a0001c0002t0002a0001c0002t0003others(4): Show | 60 | HG00099.hp2 HG00673.hp1 HG00733.hp1 others(57): Show |
5_prime_UTR_variant | MODIFIER | c.-163C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 1/21 | 6250 | chrX | 66164321 | |||||
chrX:66266806
|
G | A | 1 | a0001c0002t0003 | 2 | HG02280.hp1 HG02922.hp2 |
3_prime_UTR_variant | MODIFIER | c.*134G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 21/21 | 134 | chrX | 66266806 |
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:66164681
|
C | T | 2 | a0001c0002t0002g0216a0001c0002t0002g0217 | 2 | HG03492.hp1 HG03834.hp2 |
intron_variant | MODIFIER | c.-14+211C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 1/20 | chrX | 66164681 | ||||||
chrX:66164749
|
C | T | 1 | a0001c0002t0001g0215 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.-14+279C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 1/20 | chrX | 66164749 | ||||||
chrX:66164883
|
TAA | T | 1 | a0001c0002t0001g0214 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.-14+415_-14+416del others(2): Show |
HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chrX | 66164883 | |||||
chrX:66165144
|
T | C | 1 | a0001c0003t0001g0002 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.-14+674T>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 1/20 | chrX | 66165144 | ||||||
chrX:66165493
|
C | G | 3 | a0001c0001t0001g0211a0001c0001t0001g0212a0001c0001t0001g0213 | 3 | NA18960.hp1 NA19000.hp1 NA19007.hp1 |
intron_variant | MODIFIER | c.-14+1023C>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 1/20 | chrX | 66165493 | ||||||
chrX:66166297
|
G | A | 3 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005 | 3 | NA18747.hp1 NA18994.hp1 NA19012.hp1 |
intron_variant | MODIFIER | c.-14+1827G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 1/20 | chrX | 66166297 | ||||||
chrX:66166803
|
C | G | 4 | a0001c0003t0002g0207a0001c0003t0002g0208a0001c0003t0002g0209others(1): Show | 4 | HG00738.hp1 HG01081.hp1 HG02647.hp1 others(1): Show |
intron_variant | MODIFIER | c.-14+2333C>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 1/20 | chrX | 66166803 | ||||||
chrX:66166827
|
T | A | 86 | a0001c0002t0001g0006a0001c0002t0001g0022a0001c0002t0001g0023others(83): Show | 87 | HG00099.hp2 HG00733.hp1 HG00735.hp1 others(84): Show |
intron_variant | MODIFIER | c.-14+2357T>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 1/20 | chrX | 66166827 | ||||||
chrX:66166904
|
A | G | 3 | a0001c0003t0001g0080a0001c0003t0002g0081a0001c0010t0001g0079 | 3 | HG02615.hp2 HG03130.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.-14+2434A>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 1/20 | chrX | 66166904 | ||||||
chrX:66167425
|
G | A | 85 | a0001c0002t0001g0006a0001c0002t0001g0022a0001c0002t0001g0023others(82): Show | 86 | HG00099.hp2 HG00733.hp1 HG00735.hp1 others(83): Show |
intron_variant | MODIFIER | c.-14+2955G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 1/20 | chrX | 66167425 | ||||||
chrX:66167489
|
G | A | 1 | a0001c0002t0001g0006 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.-14+3019G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 1/20 | chrX | 66167489 | ||||||
chrX:66167543
|
G | A | 3 | a0001c0003t0001g0080a0001c0003t0002g0081a0001c0010t0001g0079 | 3 | HG02615.hp2 HG03130.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.-13-3015G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 1/20 | chrX | 66167543 | ||||||
chrX:66167632
|
A | G | 1 | a0001c0003t0001g0077 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.-13-2926A>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 1/20 | chrX | 66167632 | ||||||
chrX:66167848
|
A | AG | 1 | a0001c0003t0002g0207 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.-13-2710_-13-2709i others(3): Show |
HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 1/20 | chrX | 66167848 | ||||||
chrX:66168151
|
CAGTA | C | 4 | a0001c0003t0002g0207a0001c0003t0002g0208a0001c0003t0002g0209others(1): Show | 4 | HG00738.hp1 HG01081.hp1 HG02647.hp1 others(1): Show |
intron_variant | MODIFIER | c.-13-2402_-13-2399d others(6): Show |
HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chrX | 66168151 | |||||
chrX:66168406
|
G | C | 3 | a0001c0001t0001g0084a0005c0006t0001g0082a0005c0006t0001g0083 | 3 | NA18952.hp1 NA18959.hp1 NA19075.hp1 |
intron_variant | MODIFIER | c.-13-2152G>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 1/20 | chrX | 66168406 | ||||||
chrX:66168501
|
G | A | 1 | a0001c0001t0001g0085 | 1 | NA18943.hp1 | intron_variant | MODIFIER | c.-13-2057G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 1/20 | chrX | 66168501 | ||||||
chrX:66168715
|
A | T | 86 | a0001c0002t0001g0006a0001c0002t0001g0022a0001c0002t0001g0023others(83): Show | 87 | HG00099.hp2 HG00733.hp1 HG00735.hp1 others(84): Show |
intron_variant | MODIFIER | c.-13-1843A>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 1/20 | chrX | 66168715 | ||||||
chrX:66168743
|
A | G | 86 | a0001c0002t0001g0006a0001c0002t0001g0022a0001c0002t0001g0023others(83): Show | 87 | HG00099.hp2 HG00733.hp1 HG00735.hp1 others(84): Show |
intron_variant | MODIFIER | c.-13-1815A>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 1/20 | chrX | 66168743 | ||||||
chrX:66168836
|
C | T | 50 | a0001c0002t0001g0006a0001c0002t0001g0042a0001c0002t0001g0045others(47): Show | 50 | HG00099.hp2 HG00733.hp1 HG00741.hp1 others(47): Show |
intron_variant | MODIFIER | c.-13-1722C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 1/20 | chrX | 66168836 | ||||||
chrX:66168962
|
T | G | 3 | a0001c0003t0001g0080a0001c0003t0002g0081a0001c0010t0001g0079 | 3 | HG02615.hp2 HG03130.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.-13-1596T>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 1/20 | chrX | 66168962 | ||||||
chrX:66168984
|
T | C | 3 | a0001c0003t0001g0080a0001c0003t0002g0081a0001c0010t0001g0079 | 3 | HG02615.hp2 HG03130.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.-13-1574T>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 1/20 | chrX | 66168984 | ||||||
chrX:66169068
|
C | A | 7 | a0001c0002t0002g0032a0001c0002t0002g0034a0001c0002t0002g0035others(4): Show | 7 | HG01884.hp2 HG02257.hp1 HG02280.hp1 others(4): Show |
intron_variant | MODIFIER | c.-13-1490C>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 1/20 | chrX | 66169068 | ||||||
chrX:66169114
|
C | A | 1 | a0001c0001t0001g0086 | 1 | NA19091.hp1 | intron_variant | MODIFIER | c.-13-1444C>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 1/20 | chrX | 66169114 | ||||||
chrX:66169491
|
G | A | 2 | a0001c0003t0002g0007a0001c0003t0002g0008 | 2 | HG00735.hp1 HG02896.hp1 |
intron_variant | MODIFIER | c.-13-1067G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 1/20 | chrX | 66169491 | ||||||
chrX:66169544
|
A | G | 1 | a0001c0001t0001g0206 | 1 | HG02735.hp1 | intron_variant | MODIFIER | c.-13-1014A>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 1/20 | chrX | 66169544 | ||||||
chrX:66169894
|
C | A | 3 | a0001c0001t0001g0211a0001c0001t0001g0212a0001c0001t0001g0213 | 3 | NA18960.hp1 NA19000.hp1 NA19007.hp1 |
intron_variant | MODIFIER | c.-13-664C>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 1/20 | chrX | 66169894 | ||||||
chrX:66170088
|
T | C | 53 | a0001c0002t0001g0006a0001c0002t0001g0042a0001c0002t0001g0045others(50): Show | 53 | HG00099.hp2 HG00733.hp1 HG00741.hp1 others(50): Show |
intron_variant | MODIFIER | c.-13-470T>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 1/20 | chrX | 66170088 | ||||||
chrX:66170090
|
G | A | 53 | a0001c0002t0001g0006a0001c0002t0001g0042a0001c0002t0001g0045others(50): Show | 53 | HG00099.hp2 HG00733.hp1 HG00741.hp1 others(50): Show |
intron_variant | MODIFIER | c.-13-468G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 1/20 | chrX | 66170090 | ||||||
chrX:66170237
|
G | C | 3 | a0001c0001t0001g0084a0005c0006t0001g0082a0005c0006t0001g0083 | 3 | NA18952.hp1 NA18959.hp1 NA19075.hp1 |
intron_variant | MODIFIER | c.-13-321G>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 1/20 | chrX | 66170237 | ||||||
chrX:66170453
|
T | C | 1 | a0001c0001t0001g0086 | 1 | NA19091.hp1 | intron_variant | MODIFIER | c.-13-105T>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 1/20 | chrX | 66170453 | ||||||
chrX:66170505
|
C | T | 2 | a0001c0002t0002g0036a0001c0002t0002g0037 | 2 | HG03209.hp1 HG03516.hp2 |
intron_variant | MODIFIER | c.-13-53C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 1/20 | chrX | 66170505 | ||||||
chrX:66170751
|
C | A | 11 | a0001c0003t0001g0017a0001c0003t0001g0018a0001c0003t0001g0019others(8): Show | 11 | HG00735.hp1 HG01891.hp1 HG02258.hp1 others(8): Show |
intron_variant | MODIFIER | c.167+14C>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 2/20 | chrX | 66170751 | ||||||
chrX:66170776
|
G | A | 1 | a0001c0001t0001g0087 | 1 | NA18988.hp1 | intron_variant | MODIFIER | c.167+39G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 2/20 | chrX | 66170776 | ||||||
chrX:66170893
|
A | C | 1 | a0001c0003t0001g0030 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.167+156A>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 2/20 | chrX | 66170893 | ||||||
chrX:66170992
|
C | T | 7 | a0001c0003t0001g0025a0001c0003t0001g0027a0001c0003t0001g0028others(4): Show | 7 | HG02055.hp1 HG02109.hp2 HG02622.hp2 others(4): Show |
intron_variant | MODIFIER | c.167+255C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 2/20 | chrX | 66170992 | ||||||
chrX:66171124
|
C | A | 71 | a0001c0002t0001g0006a0001c0002t0001g0022a0001c0002t0001g0023others(68): Show | 72 | HG00099.hp2 HG00733.hp1 HG00735.hp1 others(69): Show |
intron_variant | MODIFIER | c.167+387C>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 2/20 | chrX | 66171124 | ||||||
chrX:66171196
|
T | C | 4 | a0001c0003t0002g0207a0001c0003t0002g0208a0001c0003t0002g0209others(1): Show | 4 | HG00738.hp1 HG01081.hp1 HG02647.hp1 others(1): Show |
intron_variant | MODIFIER | c.167+459T>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 2/20 | chrX | 66171196 | ||||||
chrX:66171356
|
G | T | 3 | a0001c0003t0001g0080a0001c0003t0002g0081a0001c0010t0001g0079 | 3 | HG02615.hp2 HG03130.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.167+619G>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 2/20 | chrX | 66171356 | ||||||
chrX:66171621
|
A | G | 1 | a0001c0001t0001g0205 | 1 | HG03942.hp1 | intron_variant | MODIFIER | c.168-734A>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 2/20 | chrX | 66171621 | ||||||
chrX:66171674
|
G | A | 1 | a0001c0002t0002g0038 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.168-681G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 2/20 | chrX | 66171674 | ||||||
chrX:66171788
|
C | T | 1 | a0010c0015t0001g0078 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.168-567C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 2/20 | chrX | 66171788 | ||||||
chrX:66171799
|
AT | A | 53 | a0001c0001t0001g0088a0001c0002t0001g0006a0001c0002t0001g0042others(50): Show | 53 | HG00099.hp2 HG00733.hp1 HG00741.hp1 others(50): Show |
intron_variant | MODIFIER | c.168-544delT | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chrX | 66171799 | |||||
chrX:66171894
|
G | T | 1 | a0001c0001t0001g0204 | 1 | HG02602.hp1 | intron_variant | MODIFIER | c.168-461G>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 2/20 | chrX | 66171894 | ||||||
chrX:66172339
|
T | C | 74 | a0001c0002t0001g0006a0001c0002t0001g0022a0001c0002t0001g0023others(71): Show | 75 | HG00099.hp2 HG00733.hp1 HG00735.hp1 others(72): Show |
intron_variant | MODIFIER | c.168-16T>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 2/20 | chrX | 66172339 | ||||||
chrX:66172725
|
A | G | 2 | a0001c0001t0001g0202a0001c0001t0001g0203 | 2 | HG01070.hp2 HG01074.hp1 |
intron_variant | MODIFIER | c.412+126A>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 3/20 | chrX | 66172725 | ||||||
chrX:66172780
|
C | T | 1 | a0001c0001t0001g0201 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.412+181C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 3/20 | chrX | 66172780 | ||||||
chrX:66172794
|
C | A | 71 | a0001c0002t0001g0006a0001c0002t0001g0022a0001c0002t0001g0023others(68): Show | 72 | HG00099.hp2 HG00733.hp1 HG00735.hp1 others(69): Show |
intron_variant | MODIFIER | c.412+195C>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 3/20 | chrX | 66172794 | ||||||
chrX:66173100
|
T | C | 3 | a0001c0002t0002g0039a0001c0002t0002g0040a0001c0002t0002g0041 | 3 | HG01884.hp1 HG02257.hp2 HG02451.hp2 |
intron_variant | MODIFIER | c.413-489T>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 3/20 | chrX | 66173100 | ||||||
chrX:66173233
|
TTTTTA | T | 1 | a0001c0003t0001g0002 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.413-350_413-346del others(5): Show |
HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chrX | 66173233 | |||||
chrX:66173263
|
G | A | 3 | a0001c0003t0001g0080a0001c0003t0002g0081a0001c0010t0001g0079 | 3 | HG02615.hp2 HG03130.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.413-326G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 3/20 | chrX | 66173263 | ||||||
chrX:66173962
|
A | AT | 1 | a0001c0014t0002g0210 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.625+172dupT | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | INFO_REALIGN_3_PRIME | chrX | 66173962 | |||||
chrX:66173962
|
AT | A | 66 | a0001c0002t0001g0006a0001c0002t0001g0022a0001c0002t0001g0023others(63): Show | 67 | HG00099.hp2 HG00733.hp1 HG00735.hp1 others(64): Show |
intron_variant | MODIFIER | c.625+172delT | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | INFO_REALIGN_3_PRIME | chrX | 66173962 | |||||
chrX:66173982
|
A | T | 2 | a0001c0003t0001g0080a0001c0003t0002g0081 | 2 | HG03130.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.625+181A>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66173982 | ||||||
chrX:66174016
|
A | T | 2 | a0001c0002t0002g0034a0001c0002t0002g0035 | 2 | HG01884.hp2 HG02257.hp1 |
intron_variant | MODIFIER | c.625+215A>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66174016 | ||||||
chrX:66174073
|
G | C | 178 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(175): Show | 179 | HG00099.hp2 HG00280.hp1 HG00597.hp1 others(176): Show |
intron_variant | MODIFIER | c.625+272G>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66174073 | ||||||
chrX:66174163
|
C | T | 3 | a0001c0003t0001g0080a0001c0003t0002g0081a0001c0010t0001g0079 | 3 | HG02615.hp2 HG03130.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.625+362C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66174163 | ||||||
chrX:66174232
|
C | G | 1 | a0001c0001t0001g0168 | 1 | HG02132.hp1 | intron_variant | MODIFIER | c.625+431C>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66174232 | ||||||
chrX:66174239
|
A | T | 2 | a0001c0003t0001g0080a0001c0003t0002g0081 | 2 | HG03130.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.625+438A>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66174239 | ||||||
chrX:66174256
|
C | T | 1 | a0001c0001t0001g0167 | 1 | NA18949.hp1 | intron_variant | MODIFIER | c.625+455C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66174256 | ||||||
chrX:66174373
|
G | A | 3 | a0001c0001t0001g0089a0001c0001t0001g0090a0001c0001t0002g0091 | 3 | HG00673.hp1 HG02165.hp1 NA19005.hp1 |
intron_variant | MODIFIER | c.625+572G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66174373 | ||||||
chrX:66174379
|
A | G | 18 | a0001c0002t0001g0022a0001c0002t0001g0023a0001c0002t0001g0024others(15): Show | 19 | HG00735.hp1 HG01167.hp1 HG01169.hp2 others(16): Show |
intron_variant | MODIFIER | c.625+578A>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66174379 | ||||||
chrX:66174626
|
A | G | 86 | a0001c0002t0001g0006a0001c0002t0001g0022a0001c0002t0001g0023others(83): Show | 87 | HG00099.hp2 HG00733.hp1 HG00735.hp1 others(84): Show |
intron_variant | MODIFIER | c.625+825A>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66174626 | ||||||
chrX:66174745
|
A | G | 1 | a0010c0015t0001g0078 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.625+944A>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66174745 | ||||||
chrX:66175033
|
G | C | 86 | a0001c0002t0001g0006a0001c0002t0001g0022a0001c0002t0001g0023others(83): Show | 87 | HG00099.hp2 HG00733.hp1 HG00735.hp1 others(84): Show |
intron_variant | MODIFIER | c.625+1232G>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66175033 | ||||||
chrX:66175100
|
C | T | 3 | a0001c0003t0001g0080a0001c0003t0002g0081a0001c0010t0001g0079 | 3 | HG02615.hp2 HG03130.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.625+1299C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66175100 | ||||||
chrX:66175464
|
T | G | 3 | a0001c0003t0001g0080a0001c0003t0002g0081a0001c0010t0001g0079 | 3 | HG02615.hp2 HG03130.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.625+1663T>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66175464 | ||||||
chrX:66175746
|
A | AGTATGTA others(1): Show |
74 | a0001c0002t0001g0006a0001c0002t0001g0022a0001c0002t0001g0023others(71): Show | 75 | HG00099.hp2 HG00733.hp1 HG00735.hp1 others(72): Show |
intron_variant | MODIFIER | c.625+1954_625+1961d others(10): Show |
HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | INFO_REALIGN_3_PRIME | chrX | 66175746 | |||||
chrX:66175837
|
A | G | 1 | a0010c0015t0001g0078 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.625+2036A>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66175837 | ||||||
chrX:66175952
|
G | C | 3 | a0001c0003t0001g0080a0001c0003t0002g0081a0001c0010t0001g0079 | 3 | HG02615.hp2 HG03130.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.625+2151G>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66175952 | ||||||
chrX:66176112
|
T | G | 1 | a0001c0002t0001g0042 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.625+2311T>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66176112 | ||||||
chrX:66176477
|
C | T | 16 | a0001c0002t0001g0022a0001c0002t0001g0023a0001c0002t0001g0024others(13): Show | 16 | HG00735.hp1 HG01891.hp1 HG02258.hp1 others(13): Show |
intron_variant | MODIFIER | c.625+2676C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66176477 | ||||||
chrX:66176693
|
C | T | 3 | a0001c0003t0001g0018a0001c0003t0001g0019a0001c0003t0001g0020 | 3 | HG02258.hp1 HG02451.hp1 HG02976.hp2 |
intron_variant | MODIFIER | c.625+2892C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66176693 | ||||||
chrX:66176745
|
C | T | 71 | a0001c0002t0001g0006a0001c0002t0001g0022a0001c0002t0001g0023others(68): Show | 72 | HG00099.hp2 HG00733.hp1 HG00735.hp1 others(69): Show |
intron_variant | MODIFIER | c.625+2944C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66176745 | ||||||
chrX:66176762
|
G | A | 3 | a0001c0003t0001g0080a0001c0003t0002g0081a0001c0010t0001g0079 | 3 | HG02615.hp2 HG03130.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.625+2961G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66176762 | ||||||
chrX:66177044
|
A | C | 18 | a0001c0002t0001g0022a0001c0002t0001g0023a0001c0002t0001g0024others(15): Show | 19 | HG00735.hp1 HG01167.hp1 HG01169.hp2 others(16): Show |
intron_variant | MODIFIER | c.625+3243A>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66177044 | ||||||
chrX:66177169
|
A | G | 12 | a0001c0003t0001g0025a0001c0003t0001g0027a0001c0003t0001g0028others(9): Show | 12 | HG00738.hp1 HG01081.hp1 HG02055.hp1 others(9): Show |
intron_variant | MODIFIER | c.625+3368A>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66177169 | ||||||
chrX:66177184
|
CT | C | 1 | a0009c0008t0001g0092 | 1 | HG00280.hp1 | intron_variant | MODIFIER | c.625+3387delT | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | INFO_REALIGN_3_PRIME | chrX | 66177184 | |||||
chrX:66177254
|
G | C | 2 | a0001c0001t0001g0093a0001c0001t0001g0094 | 2 | NA18995.hp1 NA19089.hp1 |
intron_variant | MODIFIER | c.625+3453G>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66177254 | ||||||
chrX:66177267
|
T | A | 1 | a0001c0002t0003g0031 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.625+3466T>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66177267 | ||||||
chrX:66177334
|
T | C | 2 | a0001c0001t0001g0169a0001c0001t0001g0170 | 2 | HG00741.hp2 HG01515.hp1 |
intron_variant | MODIFIER | c.625+3533T>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66177334 | ||||||
chrX:66177583
|
T | C | 1 | a0001c0014t0002g0210 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.625+3782T>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66177583 | ||||||
chrX:66177744
|
C | T | 2 | a0003c0007t0001g0165a0003c0007t0001g0166 | 2 | NA18984.hp1 NA19009.hp1 |
intron_variant | MODIFIER | c.625+3943C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66177744 | ||||||
chrX:66177843
|
T | C | 4 | a0001c0003t0002g0207a0001c0003t0002g0208a0001c0003t0002g0209others(1): Show | 4 | HG00738.hp1 HG01081.hp1 HG02647.hp1 others(1): Show |
intron_variant | MODIFIER | c.625+4042T>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66177843 | ||||||
chrX:66177844
|
G | A | 1 | a0001c0002t0002g0009 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.625+4043G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66177844 | ||||||
chrX:66177899
|
A | G | 5 | a0001c0001t0001g0160a0001c0001t0001g0161a0001c0001t0001g0162others(2): Show | 5 | HG00639.hp1 HG01257.hp2 HG01258.hp1 others(2): Show |
intron_variant | MODIFIER | c.625+4098A>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66177899 | ||||||
chrX:66177947
|
A | AT | 70 | a0001c0002t0001g0006a0001c0002t0001g0022a0001c0002t0001g0023others(67): Show | 71 | HG00099.hp2 HG00733.hp1 HG00735.hp1 others(68): Show |
intron_variant | MODIFIER | c.625+4156dupT | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | INFO_REALIGN_3_PRIME | chrX | 66177947 | |||||
chrX:66178186
|
C | A | 3 | a0001c0003t0001g0080a0001c0003t0002g0081a0001c0010t0001g0079 | 3 | HG02615.hp2 HG03130.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.625+4385C>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66178186 | ||||||
chrX:66178389
|
A | G | 1 | a0001c0001t0001g0200 | 1 | HG00099.hp1 | intron_variant | MODIFIER | c.625+4588A>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66178389 | ||||||
chrX:66178452
|
A | G | 1 | a0001c0001t0001g0199 | 1 | HG03490.hp1 | intron_variant | MODIFIER | c.625+4651A>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66178452 | ||||||
chrX:66178784
|
A | G | 1 | a0001c0002t0002g0070 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.625+4983A>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66178784 | ||||||
chrX:66178787
|
G | A | 3 | a0001c0003t0001g0080a0001c0003t0002g0081a0001c0010t0001g0079 | 3 | HG02615.hp2 HG03130.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.625+4986G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66178787 | ||||||
chrX:66178957
|
C | T | 18 | a0001c0002t0001g0042a0001c0002t0001g0215a0001c0002t0002g0039others(15): Show | 18 | HG00099.hp2 HG00733.hp1 HG01169.hp1 others(15): Show |
intron_variant | MODIFIER | c.625+5156C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66178957 | ||||||
chrX:66178974
|
C | T | 11 | a0001c0003t0001g0025a0001c0003t0001g0027a0001c0003t0001g0028others(8): Show | 11 | HG00738.hp1 HG01081.hp1 HG02055.hp1 others(8): Show |
intron_variant | MODIFIER | c.625+5173C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66178974 | ||||||
chrX:66179097
|
T | G | 1 | a0001c0001t0001g0089 | 1 | NA19005.hp1 | intron_variant | MODIFIER | c.625+5296T>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66179097 | ||||||
chrX:66179211
|
G | C | 1 | a0001c0003t0002g0207 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.625+5410G>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66179211 | ||||||
chrX:66179318
|
T | A | 18 | a0001c0002t0001g0022a0001c0002t0001g0023a0001c0002t0001g0024others(15): Show | 19 | HG00735.hp1 HG01167.hp1 HG01169.hp2 others(16): Show |
intron_variant | MODIFIER | c.625+5517T>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66179318 | ||||||
chrX:66179378
|
G | A | 16 | a0001c0002t0001g0022a0001c0002t0001g0023a0001c0002t0001g0024others(13): Show | 16 | HG00735.hp1 HG01891.hp1 HG02258.hp1 others(13): Show |
intron_variant | MODIFIER | c.625+5577G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66179378 | ||||||
chrX:66179427
|
G | A | 2 | a0001c0001t0001g0171a0001c0001t0001g0172 | 2 | HG02015.hp1 HG02074.hp1 |
intron_variant | MODIFIER | c.625+5626G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66179427 | ||||||
chrX:66179432
|
C | T | 2 | a0001c0001t0001g0158a0008c0009t0001g0159 | 2 | NA18983.hp1 NA18986.hp1 |
intron_variant | MODIFIER | c.625+5631C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66179432 | ||||||
chrX:66179457
|
T | C | 1 | a0001c0003t0002g0012 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.625+5656T>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66179457 | ||||||
chrX:66179465
|
T | A | 1 | a0001c0003t0002g0012 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.625+5664T>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66179465 | ||||||
chrX:66179509
|
G | A | 3 | a0001c0003t0001g0080a0001c0003t0002g0081a0001c0010t0001g0079 | 3 | HG02615.hp2 HG03130.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.625+5708G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66179509 | ||||||
chrX:66179748
|
A | G | 31 | a0001c0002t0001g0006a0001c0002t0001g0045a0001c0002t0001g0055others(28): Show | 31 | HG00741.hp1 HG01081.hp2 HG01192.hp1 others(28): Show |
intron_variant | MODIFIER | c.625+5947A>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66179748 | ||||||
chrX:66179754
|
G | A | 1 | a0001c0001t0001g0095 | 1 | HG01952.hp1 | intron_variant | MODIFIER | c.625+5953G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66179754 | ||||||
chrX:66180014
|
T | A | 3 | a0001c0003t0001g0080a0001c0003t0002g0081a0001c0010t0001g0079 | 3 | HG02615.hp2 HG03130.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.625+6213T>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66180014 | ||||||
chrX:66180027
|
A | G | 1 | a0001c0001t0001g0198 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.625+6226A>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66180027 | ||||||
chrX:66180040
|
G | A | 1 | a0001c0001t0001g0198 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.625+6239G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66180040 | ||||||
chrX:66180141
|
G | GT | 1 | a0001c0001t0001g0157 | 1 | NA18940.hp1 | intron_variant | MODIFIER | c.625+6350dupT | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | INFO_REALIGN_3_PRIME | chrX | 66180141 | |||||
chrX:66180152
|
A | AT | 1 | a0001c0001t0001g0201 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.625+6358dupT | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | INFO_REALIGN_3_PRIME | chrX | 66180152 | |||||
chrX:66180279
|
G | A | 1 | a0001c0001t0001g0096 | 1 | NA19004.hp1 | intron_variant | MODIFIER | c.625+6478G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66180279 | ||||||
chrX:66180394
|
C | T | 1 | a0001c0002t0002g0069 | 1 | HG00733.hp1 | intron_variant | MODIFIER | c.625+6593C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66180394 | ||||||
chrX:66180443
|
C | T | 2 | a0001c0001t0001g0155a0001c0001t0001g0156 | 2 | NA18944.hp1 NA19083.hp1 |
intron_variant | MODIFIER | c.625+6642C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66180443 | ||||||
chrX:66180475
|
T | C | 17 | a0001c0002t0001g0045a0001c0002t0002g0043a0001c0002t0002g0044others(14): Show | 17 | HG01255.hp1 HG02109.hp1 HG02145.hp1 others(14): Show |
intron_variant | MODIFIER | c.625+6674T>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66180475 | ||||||
chrX:66180578
|
G | A | 2 | a0001c0002t0002g0010a0001c0002t0002g0011 | 2 | HG01243.hp1 HG02630.hp2 |
intron_variant | MODIFIER | c.625+6777G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66180578 | ||||||
chrX:66180626
|
C | CT | 20 | a0001c0002t0001g0045a0001c0002t0002g0043a0001c0002t0002g0044others(17): Show | 20 | HG01255.hp1 HG02109.hp1 HG02145.hp1 others(17): Show |
intron_variant | MODIFIER | c.625+6839dupT | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | INFO_REALIGN_3_PRIME | chrX | 66180626 | |||||
chrX:66180626
|
CT | C | 10 | a0001c0001t0001g0097a0001c0001t0001g0098a0001c0001t0001g0099others(7): Show | 10 | HG01256.hp1 HG01891.hp1 HG01891.hp2 others(7): Show |
intron_variant | MODIFIER | c.625+6839delT | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | INFO_REALIGN_3_PRIME | chrX | 66180626 | |||||
chrX:66180626
|
CTT | C | 1 | a0001c0003t0001g0025 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.625+6838_625+6839d others(4): Show |
HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | INFO_REALIGN_3_PRIME | chrX | 66180626 | |||||
chrX:66180650
|
A | AT | 6 | a0001c0001t0001g0005a0001c0001t0001g0150a0001c0001t0001g0151others(3): Show | 6 | HG00735.hp2 HG01109.hp1 HG01433.hp1 others(3): Show |
intron_variant | MODIFIER | c.625+6860dupT | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | INFO_REALIGN_3_PRIME | chrX | 66180650 | |||||
chrX:66180650
|
A | ATT | 4 | a0001c0001t0001g0154a0001c0003t0001g0080a0001c0003t0002g0081others(1): Show | 4 | HG00642.hp1 HG02615.hp2 HG03130.hp1 others(1): Show |
intron_variant | MODIFIER | c.625+6859_625+6860d others(4): Show |
HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | INFO_REALIGN_3_PRIME | chrX | 66180650 | |||||
chrX:66180650
|
AT | A | 77 | a0001c0001t0001g0100a0001c0001t0001g0101a0001c0001t0001g0102others(74): Show | 78 | HG00099.hp2 HG00733.hp1 HG00735.hp1 others(75): Show |
intron_variant | MODIFIER | c.625+6860delT | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | INFO_REALIGN_3_PRIME | chrX | 66180650 | |||||
chrX:66180692
|
AT | A | 183 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(180): Show | 184 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(181): Show |
intron_variant | MODIFIER | c.625+6907delT | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | INFO_REALIGN_3_PRIME | chrX | 66180692 | |||||
chrX:66180692
|
ATT | A | 30 | a0001c0001t0001g0084a0001c0001t0001g0103a0001c0001t0001g0105others(27): Show | 30 | HG01884.hp2 HG01891.hp1 HG02055.hp1 others(27): Show |
intron_variant | MODIFIER | c.625+6906_625+6907d others(4): Show |
HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | INFO_REALIGN_3_PRIME | chrX | 66180692 | |||||
chrX:66180692
|
ATTT | A | 1 | a0001c0014t0002g0210 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.625+6905_625+6907d others(5): Show |
HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | INFO_REALIGN_3_PRIME | chrX | 66180692 | |||||
chrX:66180801
|
C | T | 1 | a0001c0001t0001g0195 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.625+7000C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66180801 | ||||||
chrX:66180841
|
T | TC | 2 | a0001c0001t0001g0084a0001c0001t0001g0173 | 2 | NA18967.hp1 NA19075.hp1 |
intron_variant | MODIFIER | c.625+7046dupC | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | INFO_REALIGN_3_PRIME | chrX | 66180841 | |||||
chrX:66180847
|
C | T | 6 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0102others(3): Show | 6 | HG02615.hp2 HG03130.hp1 NA18974.hp1 others(3): Show |
intron_variant | MODIFIER | c.625+7046C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66180847 | ||||||
chrX:66180869
|
C | T | 1 | a0001c0001t0001g0149 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.625+7068C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66180869 | ||||||
chrX:66180870
|
C | A | 71 | a0001c0002t0001g0006a0001c0002t0001g0022a0001c0002t0001g0023others(68): Show | 72 | HG00099.hp2 HG00733.hp1 HG00735.hp1 others(69): Show |
intron_variant | MODIFIER | c.625+7069C>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66180870 | ||||||
chrX:66180933
|
T | G | 1 | a0001c0001t0001g0108 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.625+7132T>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66180933 | ||||||
chrX:66180952
|
G | GT | 1 | a0001c0001t0001g0004 | 1 | NA18994.hp1 | intron_variant | MODIFIER | c.625+7158dupT | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | INFO_REALIGN_3_PRIME | chrX | 66180952 | |||||
chrX:66180967
|
C | T | 3 | a0001c0003t0001g0080a0001c0003t0002g0081a0001c0010t0001g0079 | 3 | HG02615.hp2 HG03130.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.625+7166C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66180967 | ||||||
chrX:66180994
|
C | G | 3 | a0001c0003t0001g0080a0001c0003t0002g0081a0001c0010t0001g0079 | 3 | HG02615.hp2 HG03130.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.625+7193C>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66180994 | ||||||
chrX:66181011
|
C | A | 1 | a0001c0002t0002g0038 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.625+7210C>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66181011 | ||||||
chrX:66181012
|
T | A | 1 | a0001c0002t0002g0038 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.625+7211T>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66181012 | ||||||
chrX:66181038
|
T | G | 18 | a0001c0002t0001g0022a0001c0002t0001g0023a0001c0002t0001g0024others(15): Show | 19 | HG00735.hp1 HG01167.hp1 HG01169.hp2 others(16): Show |
intron_variant | MODIFIER | c.625+7237T>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66181038 | ||||||
chrX:66181147
|
C | T | 1 | a0001c0002t0002g0068 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.626-7212C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66181147 | ||||||
chrX:66181160
|
T | C | 86 | a0001c0002t0001g0006a0001c0002t0001g0022a0001c0002t0001g0023others(83): Show | 87 | HG00099.hp2 HG00733.hp1 HG00735.hp1 others(84): Show |
intron_variant | MODIFIER | c.626-7199T>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66181160 | ||||||
chrX:66181206
|
A | T | 1 | a0001c0002t0002g0067 | 1 | HG01169.hp1 | intron_variant | MODIFIER | c.626-7153A>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66181206 | ||||||
chrX:66181232
|
T | TC | 1 | a0001c0001t0001g0004 | 1 | NA18994.hp1 | intron_variant | MODIFIER | c.626-7126dupC | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | INFO_REALIGN_3_PRIME | chrX | 66181232 | |||||
chrX:66181273
|
C | CA | 1 | a0001c0001t0001g0004 | 1 | NA18994.hp1 | intron_variant | MODIFIER | c.626-7085dupA | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | INFO_REALIGN_3_PRIME | chrX | 66181273 | |||||
chrX:66181293
|
G | C | 1 | a0001c0003t0002g0209 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.626-7066G>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66181293 | ||||||
chrX:66181302
|
T | G | 3 | a0001c0003t0001g0080a0001c0003t0002g0081a0001c0010t0001g0079 | 3 | HG02615.hp2 HG03130.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.626-7057T>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66181302 | ||||||
chrX:66181360
|
G | A | 51 | a0001c0002t0001g0006a0001c0002t0001g0042a0001c0002t0001g0045others(48): Show | 51 | HG00099.hp2 HG00733.hp1 HG00741.hp1 others(48): Show |
intron_variant | MODIFIER | c.626-6999G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66181360 | ||||||
chrX:66181438
|
T | C | 68 | a0001c0002t0001g0006a0001c0002t0001g0022a0001c0002t0001g0023others(65): Show | 69 | HG00099.hp2 HG00733.hp1 HG00735.hp1 others(66): Show |
intron_variant | MODIFIER | c.626-6921T>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66181438 | ||||||
chrX:66181510
|
T | C | 1 | a0001c0001t0001g0109 | 1 | NA18945.hp1 | intron_variant | MODIFIER | c.626-6849T>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66181510 | ||||||
chrX:66181551
|
T | G | 1 | a0001c0003t0002g0007 | 1 | HG02896.hp1 | intron_variant | MODIFIER | c.626-6808T>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66181551 | ||||||
chrX:66181617
|
A | C | 53 | a0001c0002t0001g0006a0001c0002t0001g0042a0001c0002t0001g0045others(50): Show | 53 | HG00099.hp2 HG00733.hp1 HG00741.hp1 others(50): Show |
intron_variant | MODIFIER | c.626-6742A>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66181617 | ||||||
chrX:66181649
|
T | G | 1 | a0001c0001t0001g0110 | 1 | NA18955.hp1 | intron_variant | MODIFIER | c.626-6710T>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66181649 | ||||||
chrX:66181696
|
T | G | 1 | a0001c0002t0002g0068 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.626-6663T>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66181696 | ||||||
chrX:66181772
|
C | CG | 1 | a0001c0001t0001g0148 | 1 | NA19006.hp1 | intron_variant | MODIFIER | c.626-6587_626-6586i others(3): Show |
HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66181772 | ||||||
chrX:66181868
|
A | AT | 1 | a0001c0001t0001g0148 | 1 | NA19006.hp1 | intron_variant | MODIFIER | c.626-6486dupT | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | INFO_REALIGN_3_PRIME | chrX | 66181868 | |||||
chrX:66181930
|
T | TC | 1 | a0001c0001t0001g0148 | 1 | NA19006.hp1 | intron_variant | MODIFIER | c.626-6429_626-6428i others(3): Show |
HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66181930 | ||||||
chrX:66181933
|
A | C | 1 | a0001c0003t0002g0081 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.626-6426A>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66181933 | ||||||
chrX:66181964
|
TC | T | 1 | a0001c0001t0001g0148 | 1 | NA19006.hp1 | intron_variant | MODIFIER | c.626-6392delC | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | INFO_REALIGN_3_PRIME | chrX | 66181964 | |||||
chrX:66181981
|
C | A | 1 | a0001c0001t0001g0205 | 1 | HG03942.hp1 | intron_variant | MODIFIER | c.626-6378C>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66181981 | ||||||
chrX:66181981
|
C | G | 1 | a0001c0003t0002g0026 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.626-6378C>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66181981 | ||||||
chrX:66181999
|
A | C | 3 | a0001c0001t0001g0089a0001c0001t0001g0090a0001c0001t0002g0091 | 3 | HG00673.hp1 HG02165.hp1 NA19005.hp1 |
intron_variant | MODIFIER | c.626-6360A>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66181999 | ||||||
chrX:66182012
|
A | G | 3 | a0001c0001t0001g0089a0001c0001t0001g0090a0001c0001t0002g0091 | 3 | HG00673.hp1 HG02165.hp1 NA19005.hp1 |
intron_variant | MODIFIER | c.626-6347A>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66182012 | ||||||
chrX:66182014
|
A | G | 1 | a0010c0015t0001g0078 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.626-6345A>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66182014 | ||||||
chrX:66182021
|
A | G | 6 | a0001c0001t0001g0089a0001c0001t0001g0090a0001c0001t0002g0091others(3): Show | 6 | HG00673.hp1 HG00738.hp1 HG01081.hp1 others(3): Show |
intron_variant | MODIFIER | c.626-6338A>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66182021 | ||||||
chrX:66182023
|
T | C | 3 | a0001c0001t0001g0089a0001c0001t0001g0090a0001c0001t0002g0091 | 3 | HG00673.hp1 HG02165.hp1 NA19005.hp1 |
intron_variant | MODIFIER | c.626-6336T>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66182023 | ||||||
chrX:66182074
|
C | T | 1 | a0010c0015t0001g0078 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.626-6285C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66182074 | ||||||
chrX:66182075
|
C | A | 3 | a0001c0001t0001g0089a0001c0001t0001g0090a0001c0001t0002g0091 | 3 | HG00673.hp1 HG02165.hp1 NA19005.hp1 |
intron_variant | MODIFIER | c.626-6284C>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66182075 | ||||||
chrX:66182114
|
C | A | 3 | a0001c0001t0001g0089a0001c0001t0001g0090a0001c0001t0002g0091 | 3 | HG00673.hp1 HG02165.hp1 NA19005.hp1 |
intron_variant | MODIFIER | c.626-6245C>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66182114 | ||||||
chrX:66182115
|
G | A | 5 | a0001c0001t0001g0111a0001c0001t0001g0174a0001c0001t0001g0175others(2): Show | 5 | HG00733.hp2 HG01070.hp2 HG01074.hp1 others(2): Show |
intron_variant | MODIFIER | c.626-6244G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66182115 | ||||||
chrX:66182165
|
A | G | 53 | a0001c0002t0001g0006a0001c0002t0001g0042a0001c0002t0001g0045others(50): Show | 53 | HG00099.hp2 HG00733.hp1 HG00741.hp1 others(50): Show |
intron_variant | MODIFIER | c.626-6194A>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66182165 | ||||||
chrX:66182175
|
C | T | 1 | a0001c0001t0001g0194 | 1 | NA19068.hp1 | intron_variant | MODIFIER | c.626-6184C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66182175 | ||||||
chrX:66182233
|
GA | G | 1 | a0001c0001t0001g0148 | 1 | NA19006.hp1 | intron_variant | MODIFIER | c.626-6124delA | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | INFO_REALIGN_3_PRIME | chrX | 66182233 | |||||
chrX:66182339
|
A | G | 3 | a0001c0003t0001g0027a0001c0003t0001g0028a0001c0003t0001g0029 | 3 | HG02622.hp2 HG02922.hp1 HG03098.hp1 |
intron_variant | MODIFIER | c.626-6020A>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66182339 | ||||||
chrX:66182403
|
A | G | 1 | a0001c0001t0001g0148 | 1 | NA19006.hp1 | intron_variant | MODIFIER | c.626-5956A>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66182403 | ||||||
chrX:66182404
|
G | A | 1 | a0001c0001t0001g0148 | 1 | NA19006.hp1 | intron_variant | MODIFIER | c.626-5955G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66182404 | ||||||
chrX:66182405
|
A | C | 1 | a0001c0001t0001g0148 | 1 | NA19006.hp1 | intron_variant | MODIFIER | c.626-5954A>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66182405 | ||||||
chrX:66182407
|
G | T | 1 | a0001c0001t0001g0147 | 1 | NA19079.hp1 | intron_variant | MODIFIER | c.626-5952G>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66182407 | ||||||
chrX:66182431
|
G | C | 1 | a0001c0001t0001g0110 | 1 | NA18955.hp1 | intron_variant | MODIFIER | c.626-5928G>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66182431 | ||||||
chrX:66182467
|
G | A | 1 | a0001c0002t0002g0009 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.626-5892G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66182467 | ||||||
chrX:66182481
|
C | T | 3 | a0001c0003t0001g0080a0001c0003t0002g0081a0001c0010t0001g0079 | 3 | HG02615.hp2 HG03130.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.626-5878C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66182481 | ||||||
chrX:66182485
|
G | T | 1 | a0001c0002t0002g0070 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.626-5874G>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66182485 | ||||||
chrX:66182486
|
A | AT | 1 | a0001c0001t0001g0148 | 1 | NA19006.hp1 | intron_variant | MODIFIER | c.626-5870dupT | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | INFO_REALIGN_3_PRIME | chrX | 66182486 | |||||
chrX:66182539
|
T | C | 16 | a0001c0002t0002g0039a0001c0002t0002g0040a0001c0002t0002g0041others(13): Show | 16 | HG00099.hp2 HG00733.hp1 HG01169.hp1 others(13): Show |
intron_variant | MODIFIER | c.626-5820T>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66182539 | ||||||
chrX:66182547
|
T | A | 1 | a0001c0001t0001g0148 | 1 | NA19006.hp1 | intron_variant | MODIFIER | c.626-5812T>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66182547 | ||||||
chrX:66182607
|
C | T | 1 | a0001c0002t0002g0038 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.626-5752C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66182607 | ||||||
chrX:66182610
|
TG | T | 1 | a0001c0001t0001g0148 | 1 | NA19006.hp1 | intron_variant | MODIFIER | c.626-5745delG | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | INFO_REALIGN_3_PRIME | chrX | 66182610 | |||||
chrX:66182626
|
A | T | 1 | a0001c0002t0002g0068 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.626-5733A>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66182626 | ||||||
chrX:66182638
|
G | A | 2 | a0001c0001t0001g0087a0001c0001t0001g0176 | 2 | NA18988.hp1 NA19088.hp1 |
intron_variant | MODIFIER | c.626-5721G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66182638 | ||||||
chrX:66182658
|
T | TG | 1 | a0001c0001t0001g0148 | 1 | NA19006.hp1 | intron_variant | MODIFIER | c.626-5700dupG | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | INFO_REALIGN_3_PRIME | chrX | 66182658 | |||||
chrX:66182683
|
A | C | 1 | a0001c0001t0001g0110 | 1 | NA18955.hp1 | intron_variant | MODIFIER | c.626-5676A>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66182683 | ||||||
chrX:66182749
|
C | T | 1 | a0001c0002t0002g0041 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.626-5610C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66182749 | ||||||
chrX:66182788
|
A | AG | 1 | a0001c0001t0001g0148 | 1 | NA19006.hp1 | intron_variant | MODIFIER | c.626-5568dupG | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | INFO_REALIGN_3_PRIME | chrX | 66182788 | |||||
chrX:66182832
|
TG | T | 1 | a0001c0001t0001g0148 | 1 | NA19006.hp1 | intron_variant | MODIFIER | c.626-5524delG | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | INFO_REALIGN_3_PRIME | chrX | 66182832 | |||||
chrX:66182866
|
A | G | 1 | a0001c0001t0001g0146 | 1 | HG01943.hp1 | intron_variant | MODIFIER | c.626-5493A>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66182866 | ||||||
chrX:66182870
|
G | A | 5 | a0001c0001t0001g0177a0001c0001t0001g0178a0001c0001t0001g0211others(2): Show | 5 | HG00597.hp2 NA18960.hp1 NA18989.hp1 others(2): Show |
intron_variant | MODIFIER | c.626-5489G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66182870 | ||||||
chrX:66182886
|
AT | A | 1 | a0001c0001t0001g0148 | 1 | NA19006.hp1 | intron_variant | MODIFIER | c.626-5470delT | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | INFO_REALIGN_3_PRIME | chrX | 66182886 | |||||
chrX:66183005
|
AT | A | 1 | a0001c0001t0001g0148 | 1 | NA19006.hp1 | intron_variant | MODIFIER | c.626-5352delT | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | INFO_REALIGN_3_PRIME | chrX | 66183005 | |||||
chrX:66183015
|
G | C | 2 | a0001c0002t0001g0042a0001c0002t0001g0215 | 2 | HG02280.hp2 HG02886.hp2 |
intron_variant | MODIFIER | c.626-5344G>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66183015 | ||||||
chrX:66183020
|
T | TTTTA | 1 | a0001c0001t0001g0148 | 1 | NA19006.hp1 | intron_variant | MODIFIER | c.626-5338_626-5337i others(6): Show |
HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | INFO_REALIGN_3_PRIME | chrX | 66183020 | |||||
chrX:66183027
|
A | G | 1 | a0001c0001t0001g0145 | 1 | HG00597.hp1 | intron_variant | MODIFIER | c.626-5332A>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66183027 | ||||||
chrX:66183033
|
G | T | 7 | a0001c0003t0001g0025a0001c0003t0001g0027a0001c0003t0001g0028others(4): Show | 7 | HG02055.hp1 HG02109.hp2 HG02622.hp2 others(4): Show |
intron_variant | MODIFIER | c.626-5326G>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66183033 | ||||||
chrX:66183083
|
T | TC | 1 | a0001c0001t0001g0148 | 1 | NA19006.hp1 | intron_variant | MODIFIER | c.626-5276_626-5275i others(3): Show |
HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66183083 | ||||||
chrX:66183128
|
T | TG | 1 | a0001c0001t0001g0148 | 1 | NA19006.hp1 | intron_variant | MODIFIER | c.626-5231_626-5230i others(3): Show |
HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66183128 | ||||||
chrX:66183133
|
G | GT | 1 | a0001c0001t0001g0148 | 1 | NA19006.hp1 | intron_variant | MODIFIER | c.626-5224dupT | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | INFO_REALIGN_3_PRIME | chrX | 66183133 | |||||
chrX:66183318
|
A | C | 1 | a0001c0001t0001g0198 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.626-5041A>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66183318 | ||||||
chrX:66183472
|
T | G | 7 | a0001c0003t0001g0025a0001c0003t0001g0027a0001c0003t0001g0028others(4): Show | 7 | HG02055.hp1 HG02109.hp2 HG02622.hp2 others(4): Show |
intron_variant | MODIFIER | c.626-4887T>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66183472 | ||||||
chrX:66183487
|
G | A | 2 | a0001c0001t0001g0093a0001c0001t0001g0094 | 2 | NA18995.hp1 NA19089.hp1 |
intron_variant | MODIFIER | c.626-4872G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66183487 | ||||||
chrX:66183499
|
A | G | 150 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(147): Show | 151 | HG00099.hp2 HG00597.hp1 HG00621.hp1 others(148): Show |
intron_variant | MODIFIER | c.626-4860A>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66183499 | ||||||
chrX:66183663
|
A | C | 86 | a0001c0002t0001g0006a0001c0002t0001g0022a0001c0002t0001g0023others(83): Show | 87 | HG00099.hp2 HG00733.hp1 HG00735.hp1 others(84): Show |
intron_variant | MODIFIER | c.626-4696A>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66183663 | ||||||
chrX:66183667
|
A | G | 86 | a0001c0002t0001g0006a0001c0002t0001g0022a0001c0002t0001g0023others(83): Show | 87 | HG00099.hp2 HG00733.hp1 HG00735.hp1 others(84): Show |
intron_variant | MODIFIER | c.626-4692A>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66183667 | ||||||
chrX:66184008
|
G | A | 1 | a0001c0002t0002g0067 | 1 | HG01169.hp1 | intron_variant | MODIFIER | c.626-4351G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66184008 | ||||||
chrX:66184099
|
G | T | 1 | a0001c0014t0002g0210 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.626-4260G>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66184099 | ||||||
chrX:66184122
|
C | G | 1 | a0010c0015t0001g0078 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.626-4237C>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66184122 | ||||||
chrX:66184131
|
C | G | 1 | a0001c0002t0002g0009 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.626-4228C>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66184131 | ||||||
chrX:66184160
|
G | GA | 4 | a0001c0003t0001g0027a0001c0003t0001g0028a0001c0003t0001g0029others(1): Show | 4 | HG02622.hp2 HG02922.hp1 HG03098.hp1 others(1): Show |
intron_variant | MODIFIER | c.626-4192dupA | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | INFO_REALIGN_3_PRIME | chrX | 66184160 | |||||
chrX:66184196
|
A | G | 74 | a0001c0002t0001g0006a0001c0002t0001g0022a0001c0002t0001g0023others(71): Show | 75 | HG00099.hp2 HG00733.hp1 HG00735.hp1 others(72): Show |
intron_variant | MODIFIER | c.626-4163A>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66184196 | ||||||
chrX:66184219
|
T | C | 12 | a0001c0003t0001g0025a0001c0003t0001g0027a0001c0003t0001g0028others(9): Show | 12 | HG00738.hp1 HG01081.hp1 HG02055.hp1 others(9): Show |
intron_variant | MODIFIER | c.626-4140T>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66184219 | ||||||
chrX:66184278
|
A | G | 3 | a0001c0003t0001g0080a0001c0003t0002g0081a0001c0010t0001g0079 | 3 | HG02615.hp2 HG03130.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.626-4081A>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66184278 | ||||||
chrX:66184301
|
G | A | 1 | a0001c0003t0002g0081 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.626-4058G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66184301 | ||||||
chrX:66184365
|
G | C | 1 | a0001c0002t0002g0070 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.626-3994G>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66184365 | ||||||
chrX:66184531
|
C | CT | 3 | a0001c0003t0001g0025a0001c0003t0001g0077a0001c0003t0002g0026 | 3 | HG02055.hp1 HG02109.hp2 HG03041.hp1 |
intron_variant | MODIFIER | c.626-3821dupT | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | INFO_REALIGN_3_PRIME | chrX | 66184531 | |||||
chrX:66184864
|
C | T | 71 | a0001c0002t0001g0006a0001c0002t0001g0022a0001c0002t0001g0023others(68): Show | 72 | HG00099.hp2 HG00733.hp1 HG00735.hp1 others(69): Show |
intron_variant | MODIFIER | c.626-3495C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66184864 | ||||||
chrX:66184963
|
G | T | 1 | a0001c0001t0001g0144 | 1 | HG02071.hp1 | intron_variant | MODIFIER | c.626-3396G>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66184963 | ||||||
chrX:66184982
|
G | T | 2 | a0001c0001t0001g0107a0001c0001t0001g0143 | 2 | NA18971.hp1 NA19056.hp1 |
intron_variant | MODIFIER | c.626-3377G>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66184982 | ||||||
chrX:66185065
|
G | A | 1 | a0001c0001t0001g0120 | 1 | NA18949.hp2 | intron_variant | MODIFIER | c.626-3294G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66185065 | ||||||
chrX:66185067
|
G | T | 1 | a0001c0003t0001g0002 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.626-3292G>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66185067 | ||||||
chrX:66185219
|
C | T | 4 | a0001c0003t0002g0207a0001c0003t0002g0208a0001c0003t0002g0209others(1): Show | 4 | HG00738.hp1 HG01081.hp1 HG02647.hp1 others(1): Show |
intron_variant | MODIFIER | c.626-3140C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66185219 | ||||||
chrX:66185246
|
G | T | 1 | a0001c0001t0001g0142 | 1 | NA20805.hp1 | intron_variant | MODIFIER | c.626-3113G>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66185246 | ||||||
chrX:66185278
|
G | A | 53 | a0001c0002t0001g0006a0001c0002t0001g0042a0001c0002t0001g0045others(50): Show | 53 | HG00099.hp2 HG00733.hp1 HG00741.hp1 others(50): Show |
intron_variant | MODIFIER | c.626-3081G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66185278 | ||||||
chrX:66185310
|
T | G | 1 | a0001c0014t0002g0210 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.626-3049T>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66185310 | ||||||
chrX:66185337
|
C | T | 2 | a0001c0002t0001g0042a0001c0002t0001g0215 | 2 | HG02280.hp2 HG02886.hp2 |
intron_variant | MODIFIER | c.626-3022C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66185337 | ||||||
chrX:66185552
|
A | T | 4 | a0001c0003t0002g0207a0001c0003t0002g0208a0001c0003t0002g0209others(1): Show | 4 | HG00738.hp1 HG01081.hp1 HG02647.hp1 others(1): Show |
intron_variant | MODIFIER | c.626-2807A>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66185552 | ||||||
chrX:66185608
|
AT | A | 1 | a0001c0001t0001g0160 | 1 | HG00639.hp1 | intron_variant | MODIFIER | c.626-2744delT | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | INFO_REALIGN_3_PRIME | chrX | 66185608 | |||||
chrX:66185619
|
A | T | 1 | a0001c0001t0001g0099 | 1 | HG02083.hp1 | intron_variant | MODIFIER | c.626-2740A>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66185619 | ||||||
chrX:66185620
|
G | A | 1 | a0001c0003t0001g0030 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.626-2739G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66185620 | ||||||
chrX:66185704
|
G | A | 1 | a0001c0002t0002g0009 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.626-2655G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66185704 | ||||||
chrX:66185734
|
T | C | 1 | a0001c0001t0001g0102 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.626-2625T>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66185734 | ||||||
chrX:66185745
|
C | A | 216 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(213): Show | 217 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(214): Show |
intron_variant | MODIFIER | c.626-2614C>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66185745 | ||||||
chrX:66185746
|
A | G | 216 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(213): Show | 217 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(214): Show |
intron_variant | MODIFIER | c.626-2613A>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66185746 | ||||||
chrX:66185753
|
C | T | 2 | a0001c0002t0002g0010a0001c0002t0002g0011 | 2 | HG01243.hp1 HG02630.hp2 |
intron_variant | MODIFIER | c.626-2606C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66185753 | ||||||
chrX:66185783
|
G | T | 18 | a0001c0002t0001g0022a0001c0002t0001g0023a0001c0002t0001g0024others(15): Show | 19 | HG00735.hp1 HG01167.hp1 HG01169.hp2 others(16): Show |
intron_variant | MODIFIER | c.626-2576G>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66185783 | ||||||
chrX:66185820
|
C | T | 1 | a0001c0001t0001g0195 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.626-2539C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66185820 | ||||||
chrX:66185900
|
T | G | 89 | a0001c0001t0001g0120a0001c0001t0001g0121a0001c0001t0001g0122others(86): Show | 90 | HG00099.hp2 HG00733.hp1 HG00735.hp1 others(87): Show |
intron_variant | MODIFIER | c.626-2459T>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66185900 | ||||||
chrX:66185961
|
C | T | 72 | a0001c0002t0001g0006a0001c0002t0001g0022a0001c0002t0001g0023others(69): Show | 73 | HG00099.hp2 HG00733.hp1 HG00735.hp1 others(70): Show |
intron_variant | MODIFIER | c.626-2398C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66185961 | ||||||
chrX:66185993
|
G | T | 7 | a0001c0003t0001g0025a0001c0003t0001g0027a0001c0003t0001g0028others(4): Show | 7 | HG02055.hp1 HG02109.hp2 HG02622.hp2 others(4): Show |
intron_variant | MODIFIER | c.626-2366G>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66185993 | ||||||
chrX:66186124
|
C | T | 3 | a0001c0003t0001g0080a0001c0003t0002g0081a0001c0010t0001g0079 | 3 | HG02615.hp2 HG03130.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.626-2235C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66186124 | ||||||
chrX:66186185
|
A | G | 53 | a0001c0002t0001g0006a0001c0002t0001g0042a0001c0002t0001g0045others(50): Show | 53 | HG00099.hp2 HG00733.hp1 HG00741.hp1 others(50): Show |
intron_variant | MODIFIER | c.626-2174A>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66186185 | ||||||
chrX:66186200
|
G | T | 2 | a0001c0002t0002g0010a0001c0002t0002g0011 | 2 | HG01243.hp1 HG02630.hp2 |
intron_variant | MODIFIER | c.626-2159G>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66186200 | ||||||
chrX:66186246
|
A | C | 2 | a0001c0001t0001g0089a0001c0001t0001g0148 | 2 | NA19005.hp1 NA19006.hp1 |
intron_variant | MODIFIER | c.626-2113A>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66186246 | ||||||
chrX:66186247
|
G | A | 1 | a0001c0001t0001g0089 | 1 | NA19005.hp1 | intron_variant | MODIFIER | c.626-2112G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66186247 | ||||||
chrX:66186276
|
GC | G | 71 | a0001c0002t0001g0006a0001c0002t0001g0022a0001c0002t0001g0023others(68): Show | 72 | HG00099.hp2 HG00733.hp1 HG00735.hp1 others(69): Show |
intron_variant | MODIFIER | c.626-2082delC | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66186276 | ||||||
chrX:66186304
|
C | G | 1 | a0001c0002t0002g0011 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.626-2055C>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66186304 | ||||||
chrX:66186311
|
G | A | 2 | a0001c0002t0001g0042a0001c0002t0001g0215 | 2 | HG02280.hp2 HG02886.hp2 |
intron_variant | MODIFIER | c.626-2048G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66186311 | ||||||
chrX:66186436
|
G | A | 1 | a0001c0002t0002g0060 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.626-1923G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66186436 | ||||||
chrX:66186563
|
C | T | 1 | a0001c0003t0001g0020 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.626-1796C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66186563 | ||||||
chrX:66186717
|
T | G | 86 | a0001c0002t0001g0006a0001c0002t0001g0022a0001c0002t0001g0023others(83): Show | 87 | HG00099.hp2 HG00733.hp1 HG00735.hp1 others(84): Show |
intron_variant | MODIFIER | c.626-1642T>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66186717 | ||||||
chrX:66186747
|
T | G | 1 | a0001c0002t0002g0070 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.626-1612T>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66186747 | ||||||
chrX:66186901
|
G | T | 71 | a0001c0002t0001g0006a0001c0002t0001g0022a0001c0002t0001g0023others(68): Show | 72 | HG00099.hp2 HG00733.hp1 HG00735.hp1 others(69): Show |
intron_variant | MODIFIER | c.626-1458G>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66186901 | ||||||
chrX:66187083
|
G | GT | 1 | a0001c0001t0001g0119 | 1 | HG03834.hp1 | intron_variant | MODIFIER | c.626-1270dupT | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | INFO_REALIGN_3_PRIME | chrX | 66187083 | |||||
chrX:66187101
|
GCTAT | G | 16 | a0001c0002t0002g0039a0001c0002t0002g0040a0001c0002t0002g0041others(13): Show | 16 | HG00099.hp2 HG00733.hp1 HG01169.hp1 others(13): Show |
intron_variant | MODIFIER | c.626-1253_626-1250d others(6): Show |
HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | INFO_REALIGN_3_PRIME | chrX | 66187101 | |||||
chrX:66187145
|
T | G | 87 | a0001c0001t0001g0108a0001c0002t0001g0006a0001c0002t0001g0022others(84): Show | 88 | HG00099.hp2 HG00733.hp1 HG00735.hp1 others(85): Show |
intron_variant | MODIFIER | c.626-1214T>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66187145 | ||||||
chrX:66187148
|
G | T | 2 | a0001c0001t0001g0170a0001c0001t0001g0175 | 2 | HG00741.hp2 NA20905.hp1 |
intron_variant | MODIFIER | c.626-1211G>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66187148 | ||||||
chrX:66187174
|
C | T | 2 | a0001c0001t0001g0202a0001c0001t0001g0203 | 2 | HG01070.hp2 HG01074.hp1 |
intron_variant | MODIFIER | c.626-1185C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66187174 | ||||||
chrX:66187240
|
G | T | 149 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(146): Show | 150 | HG00099.hp2 HG00597.hp1 HG00621.hp1 others(147): Show |
intron_variant | MODIFIER | c.626-1119G>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66187240 | ||||||
chrX:66187259
|
A | AT | 12 | a0001c0003t0001g0025a0001c0003t0001g0027a0001c0003t0001g0028others(9): Show | 12 | HG00738.hp1 HG01081.hp1 HG02055.hp1 others(9): Show |
intron_variant | MODIFIER | c.626-1091dupT | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | INFO_REALIGN_3_PRIME | chrX | 66187259 | |||||
chrX:66187313
|
G | A | 1 | a0001c0001t0001g0119 | 1 | HG03834.hp1 | intron_variant | MODIFIER | c.626-1046G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66187313 | ||||||
chrX:66187482
|
T | G | 71 | a0001c0002t0001g0006a0001c0002t0001g0022a0001c0002t0001g0023others(68): Show | 72 | HG00099.hp2 HG00733.hp1 HG00735.hp1 others(69): Show |
intron_variant | MODIFIER | c.626-877T>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66187482 | ||||||
chrX:66188019
|
G | A | 2 | a0001c0002t0002g0034a0001c0002t0002g0035 | 2 | HG01884.hp2 HG02257.hp1 |
intron_variant | MODIFIER | c.626-340G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66188019 | ||||||
chrX:66188117
|
G | A | 3 | a0001c0003t0001g0025a0001c0003t0001g0077a0001c0003t0002g0026 | 3 | HG02055.hp1 HG02109.hp2 HG03041.hp1 |
intron_variant | MODIFIER | c.626-242G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66188117 | ||||||
chrX:66188120
|
G | A | 1 | a0001c0001t0001g0123 | 1 | HG00621.hp1 | intron_variant | MODIFIER | c.626-239G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66188120 | ||||||
chrX:66188603
|
C | T | 53 | a0001c0002t0001g0006a0001c0002t0001g0042a0001c0002t0001g0045others(50): Show | 53 | HG00099.hp2 HG00733.hp1 HG00741.hp1 others(50): Show |
intron_variant | MODIFIER | c.808+62C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 5/20 | chrX | 66188603 | ||||||
chrX:66188652
|
C | T | 1 | a0001c0002t0002g0041 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.808+111C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 5/20 | chrX | 66188652 | ||||||
chrX:66188700
|
C | T | 1 | a0001c0002t0002g0059 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.808+159C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 5/20 | chrX | 66188700 | ||||||
chrX:66188790
|
A | G | 2 | a0001c0001t0001g0086a0001c0001t0001g0141 | 2 | HG02738.hp1 NA19091.hp1 |
intron_variant | MODIFIER | c.808+249A>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 5/20 | chrX | 66188790 | ||||||
chrX:66188913
|
G | T | 1 | a0001c0001t0001g0173 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.808+372G>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 5/20 | chrX | 66188913 | ||||||
chrX:66189353
|
C | A | 1 | a0006c0013t0002g0076 | 1 | HG02273.hp1 | intron_variant | MODIFIER | c.809-331C>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 5/20 | chrX | 66189353 | ||||||
chrX:66189432
|
G | A | 16 | a0001c0001t0001g0086a0001c0001t0001g0093a0001c0001t0001g0094others(13): Show | 16 | HG00597.hp1 HG02040.hp1 HG02071.hp1 others(13): Show |
intron_variant | MODIFIER | c.809-252G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 5/20 | chrX | 66189432 | ||||||
chrX:66190238
|
C | T | 1 | a0001c0003t0002g0208 | 1 | HG01081.hp1 | intron_variant | MODIFIER | c.1063+300C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 6/20 | chrX | 66190238 | ||||||
chrX:66190525
|
G | A | 1 | a0001c0001t0001g0168 | 1 | HG02132.hp1 | intron_variant | MODIFIER | c.1063+587G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 6/20 | chrX | 66190525 | ||||||
chrX:66190609
|
T | C | 74 | a0001c0002t0001g0006a0001c0002t0001g0022a0001c0002t0001g0023others(71): Show | 75 | HG00099.hp2 HG00733.hp1 HG00735.hp1 others(72): Show |
intron_variant | MODIFIER | c.1063+671T>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 6/20 | chrX | 66190609 | ||||||
chrX:66190791
|
A | G | 5 | a0001c0003t0002g0207a0001c0003t0002g0208a0001c0003t0002g0209others(2): Show | 5 | HG00738.hp1 HG01081.hp1 HG02647.hp1 others(2): Show |
intron_variant | MODIFIER | c.1063+853A>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 6/20 | chrX | 66190791 | ||||||
chrX:66190806
|
A | G | 4 | a0001c0002t0002g0036a0001c0002t0002g0037a0001c0002t0003g0031others(1): Show | 4 | HG02280.hp1 HG02922.hp2 HG03209.hp1 others(1): Show |
intron_variant | MODIFIER | c.1063+868A>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 6/20 | chrX | 66190806 | ||||||
chrX:66190909
|
A | G | 5 | a0001c0003t0001g0027a0001c0003t0001g0028a0001c0003t0001g0029others(2): Show | 5 | HG02622.hp2 HG02922.hp1 HG03098.hp1 others(2): Show |
intron_variant | MODIFIER | c.1063+971A>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 6/20 | chrX | 66190909 | ||||||
chrX:66191017
|
A | G | 1 | a0001c0002t0002g0009 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.1063+1079A>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 6/20 | chrX | 66191017 | ||||||
chrX:66191090
|
G | C | 1 | a0001c0003t0002g0208 | 1 | HG01081.hp1 | intron_variant | MODIFIER | c.1064-1040G>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 6/20 | chrX | 66191090 | ||||||
chrX:66191274
|
A | C | 5 | a0001c0003t0002g0207a0001c0003t0002g0208a0001c0003t0002g0209others(2): Show | 5 | HG00738.hp1 HG01081.hp1 HG02647.hp1 others(2): Show |
intron_variant | MODIFIER | c.1064-856A>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 6/20 | chrX | 66191274 | ||||||
chrX:66191328
|
TA | T | 1 | a0001c0001t0001g0118 | 1 | HG01070.hp1 | intron_variant | MODIFIER | c.1064-796delA | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 6/20 | INFO_REALIGN_3_PRIME | chrX | 66191328 | |||||
chrX:66191342
|
AG | A | 1 | a0001c0002t0001g0042 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.1064-787delG | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 6/20 | chrX | 66191342 | ||||||
chrX:66191394
|
T | A | 1 | a0001c0001t0001g0100 | 1 | HG02129.hp1 | intron_variant | MODIFIER | c.1064-736T>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 6/20 | chrX | 66191394 | ||||||
chrX:66191460
|
T | C | 1 | a0001c0002t0001g0006 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.1064-670T>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 6/20 | chrX | 66191460 | ||||||
chrX:66191513
|
C | A | 1 | a0001c0001t0001g0179 | 1 | HG02165.hp2 | intron_variant | MODIFIER | c.1064-617C>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 6/20 | chrX | 66191513 | ||||||
chrX:66191548
|
G | A | 1 | a0001c0002t0002g0043 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.1064-582G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 6/20 | chrX | 66191548 | ||||||
chrX:66191685
|
C | T | 53 | a0001c0002t0001g0006a0001c0002t0001g0042a0001c0002t0001g0045others(50): Show | 53 | HG00099.hp2 HG00733.hp1 HG00741.hp1 others(50): Show |
intron_variant | MODIFIER | c.1064-445C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 6/20 | chrX | 66191685 | ||||||
chrX:66191784
|
C | T | 7 | a0001c0003t0001g0025a0001c0003t0001g0027a0001c0003t0001g0028others(4): Show | 7 | HG02055.hp1 HG02109.hp2 HG02622.hp2 others(4): Show |
intron_variant | MODIFIER | c.1064-346C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 6/20 | chrX | 66191784 | ||||||
chrX:66192026
|
G | C | 3 | a0001c0001t0001g0084a0005c0006t0001g0082a0005c0006t0001g0083 | 3 | NA18952.hp1 NA18959.hp1 NA19075.hp1 |
intron_variant | MODIFIER | c.1064-104G>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 6/20 | chrX | 66192026 | ||||||
chrX:66192306
|
G | A | 17 | a0001c0002t0001g0045a0001c0002t0002g0043a0001c0002t0002g0044others(14): Show | 17 | HG01255.hp1 HG02109.hp1 HG02145.hp1 others(14): Show |
splice_region_variant&intron_variant | LOW | c.1232+8G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 7/20 | chrX | 66192306 | ||||||
chrX:66192326
|
A | G | 3 | a0001c0003t0001g0080a0001c0003t0002g0081a0001c0010t0001g0079 | 3 | HG02615.hp2 HG03130.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.1232+28A>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 7/20 | chrX | 66192326 | ||||||
chrX:66192859
|
GC | G | 1 | a0001c0001t0001g0004 | 1 | NA18994.hp1 | intron_variant | MODIFIER | c.1232+564delC | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 7/20 | INFO_REALIGN_3_PRIME | chrX | 66192859 | |||||
chrX:66192896
|
A | G | 4 | a0001c0002t0001g0022a0001c0002t0001g0023a0001c0002t0001g0024others(1): Show | 4 | HG02630.hp1 HG02723.hp1 HG02896.hp2 others(1): Show |
intron_variant | MODIFIER | c.1232+598A>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 7/20 | chrX | 66192896 | ||||||
chrX:66193114
|
G | T | 1 | a0001c0010t0001g0079 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.1233-388G>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 7/20 | chrX | 66193114 | ||||||
chrX:66193223
|
A | G | 3 | a0001c0001t0001g0085a0003c0007t0001g0165a0003c0007t0001g0166 | 3 | NA18943.hp1 NA18984.hp1 NA19009.hp1 |
intron_variant | MODIFIER | c.1233-279A>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 7/20 | chrX | 66193223 | ||||||
chrX:66193829
|
T | C | 5 | a0001c0001t0001g0160a0001c0001t0001g0161a0001c0001t0001g0162others(2): Show | 5 | HG00639.hp1 HG01257.hp2 HG01258.hp1 others(2): Show |
intron_variant | MODIFIER | c.1369+191T>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 8/20 | chrX | 66193829 | ||||||
chrX:66193900
|
C | CT | 1 | a0001c0001t0001g0099 | 1 | HG02083.hp1 | intron_variant | MODIFIER | c.1369+269dupT | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 8/20 | INFO_REALIGN_3_PRIME | chrX | 66193900 | |||||
chrX:66194139
|
A | T | 74 | a0001c0002t0001g0006a0001c0002t0001g0022a0001c0002t0001g0023others(71): Show | 75 | HG00099.hp2 HG00733.hp1 HG00735.hp1 others(72): Show |
intron_variant | MODIFIER | c.1369+501A>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 8/20 | chrX | 66194139 | ||||||
chrX:66194268
|
A | G | 1 | a0001c0002t0002g0009 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.1369+630A>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 8/20 | chrX | 66194268 | ||||||
chrX:66194488
|
C | CT | 1 | a0001c0003t0002g0081 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.1370-605dupT | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 8/20 | INFO_REALIGN_3_PRIME | chrX | 66194488 | |||||
chrX:66194775
|
T | A | 85 | a0001c0002t0001g0006a0001c0002t0001g0022a0001c0002t0001g0023others(82): Show | 86 | HG00099.hp2 HG00733.hp1 HG00735.hp1 others(83): Show |
intron_variant | MODIFIER | c.1370-323T>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 8/20 | chrX | 66194775 | ||||||
chrX:66195332
|
T | G | 86 | a0001c0002t0001g0006a0001c0002t0001g0022a0001c0002t0001g0023others(83): Show | 87 | HG00099.hp2 HG00733.hp1 HG00735.hp1 others(84): Show |
intron_variant | MODIFIER | c.1501+103T>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 9/20 | chrX | 66195332 | ||||||
chrX:66195540
|
A | C | 1 | a0001c0001t0001g0204 | 1 | HG02602.hp1 | intron_variant | MODIFIER | c.1501+311A>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 9/20 | chrX | 66195540 | ||||||
chrX:66195713
|
G | A | 18 | a0001c0002t0001g0022a0001c0002t0001g0023a0001c0002t0001g0024others(15): Show | 19 | HG00735.hp1 HG01167.hp1 HG01169.hp2 others(16): Show |
intron_variant | MODIFIER | c.1501+484G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 9/20 | chrX | 66195713 | ||||||
chrX:66195788
|
T | C | 6 | a0001c0001t0001g0085a0001c0001t0001g0097a0001c0001t0001g0147others(3): Show | 6 | NA18943.hp1 NA18949.hp1 NA18953.hp1 others(3): Show |
intron_variant | MODIFIER | c.1501+559T>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 9/20 | chrX | 66195788 | ||||||
chrX:66195830
|
T | C | 1 | a0001c0001t0001g0180 | 1 | HG01257.hp1 | intron_variant | MODIFIER | c.1501+601T>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 9/20 | chrX | 66195830 | ||||||
chrX:66195848
|
T | A | 18 | a0001c0002t0001g0022a0001c0002t0001g0023a0001c0002t0001g0024others(15): Show | 19 | HG00735.hp1 HG01167.hp1 HG01169.hp2 others(16): Show |
intron_variant | MODIFIER | c.1501+619T>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 9/20 | chrX | 66195848 | ||||||
chrX:66196245
|
G | A | 85 | a0001c0002t0001g0006a0001c0002t0001g0022a0001c0002t0001g0023others(82): Show | 86 | HG00099.hp2 HG00733.hp1 HG00735.hp1 others(83): Show |
intron_variant | MODIFIER | c.1501+1016G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 9/20 | chrX | 66196245 | ||||||
chrX:66196310
|
A | C | 2 | a0001c0001t0001g0139a0001c0001t0001g0140 | 2 | NA19062.hp1 NA19076.hp1 |
intron_variant | MODIFIER | c.1501+1081A>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 9/20 | chrX | 66196310 | ||||||
chrX:66196612
|
A | G | 1 | a0001c0002t0002g0041 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.1502-1071A>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 9/20 | chrX | 66196612 | ||||||
chrX:66196752
|
C | T | 3 | a0001c0003t0001g0080a0001c0003t0002g0081a0001c0010t0001g0079 | 3 | HG02615.hp2 HG03130.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.1502-931C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 9/20 | chrX | 66196752 | ||||||
chrX:66197170
|
C | T | 71 | a0001c0002t0001g0006a0001c0002t0001g0022a0001c0002t0001g0023others(68): Show | 72 | HG00099.hp2 HG00733.hp1 HG00735.hp1 others(69): Show |
intron_variant | MODIFIER | c.1502-513C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 9/20 | chrX | 66197170 | ||||||
chrX:66197265
|
A | G | 1 | a0001c0001t0001g0198 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.1502-418A>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 9/20 | chrX | 66197265 | ||||||
chrX:66197312
|
G | A | 1 | a0001c0001t0001g0181 | 1 | HG00140.hp1 | intron_variant | MODIFIER | c.1502-371G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 9/20 | chrX | 66197312 | ||||||
chrX:66197503
|
G | A | 1 | a0001c0002t0002g0216 | 1 | HG03834.hp2 | intron_variant | MODIFIER | c.1502-180G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 9/20 | chrX | 66197503 | ||||||
chrX:66197578
|
C | A | 1 | a0001c0003t0002g0012 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.1502-105C>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 9/20 | chrX | 66197578 | ||||||
chrX:66197678
|
T | C | 3 | a0001c0001t0001g0095a0001c0001t0001g0112a0001c0001t0001g0118 | 3 | HG01070.hp1 HG01952.hp1 HG02273.hp2 |
splice_region_variant&intron_variant | LOW | c.1502-5T>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 9/20 | chrX | 66197678 | ||||||
chrX:66198051
|
A | G | 86 | a0001c0002t0001g0006a0001c0002t0001g0022a0001c0002t0001g0023others(83): Show | 87 | HG00099.hp2 HG00733.hp1 HG00735.hp1 others(84): Show |
intron_variant | MODIFIER | c.1713+157A>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 10/20 | chrX | 66198051 | ||||||
chrX:66198167
|
T | C | 86 | a0001c0002t0001g0006a0001c0002t0001g0022a0001c0002t0001g0023others(83): Show | 87 | HG00099.hp2 HG00733.hp1 HG00735.hp1 others(84): Show |
intron_variant | MODIFIER | c.1713+273T>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 10/20 | chrX | 66198167 | ||||||
chrX:66198202
|
C | G | 3 | a0001c0003t0002g0207a0001c0003t0002g0208a0001c0003t0002g0209 | 3 | HG00738.hp1 HG01081.hp1 HG02647.hp1 |
intron_variant | MODIFIER | c.1713+308C>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 10/20 | chrX | 66198202 | ||||||
chrX:66198210
|
C | T | 5 | a0001c0001t0001g0103a0001c0001t0001g0120a0001c0001t0001g0121others(2): Show | 5 | HG00597.hp1 NA18949.hp2 NA18962.hp1 others(2): Show |
intron_variant | MODIFIER | c.1713+316C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 10/20 | chrX | 66198210 | ||||||
chrX:66198268
|
C | G | 1 | a0001c0002t0001g0215 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.1713+374C>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 10/20 | chrX | 66198268 | ||||||
chrX:66198415
|
C | T | 2 | a0001c0003t0002g0007a0001c0003t0002g0008 | 2 | HG00735.hp1 HG02896.hp1 |
intron_variant | MODIFIER | c.1714-463C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 10/20 | chrX | 66198415 | ||||||
chrX:66198426
|
G | T | 3 | a0001c0003t0001g0080a0001c0003t0002g0081a0001c0010t0001g0079 | 3 | HG02615.hp2 HG03130.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.1714-452G>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 10/20 | chrX | 66198426 | ||||||
chrX:66198627
|
A | G | 1 | a0001c0001t0001g0004 | 1 | NA18994.hp1 | intron_variant | MODIFIER | c.1714-251A>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 10/20 | chrX | 66198627 | ||||||
chrX:66199354
|
C | G | 1 | a0001c0003t0002g0209 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.1864+326C>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 11/20 | chrX | 66199354 | ||||||
chrX:66199360
|
T | TC | 35 | a0001c0001t0001g0110a0001c0001t0001g0119a0001c0001t0001g0138others(32): Show | 35 | HG00597.hp2 HG00741.hp1 HG01081.hp2 others(32): Show |
intron_variant | MODIFIER | c.1864+343dupC | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 11/20 | INFO_REALIGN_3_PRIME | chrX | 66199360 | |||||
chrX:66199360
|
T | TCC | 3 | a0001c0001t0001g0205a0001c0002t0002g0038a0001c0003t0002g0207 | 3 | HG00738.hp1 HG02886.hp1 HG03942.hp1 |
intron_variant | MODIFIER | c.1864+342_1864+343d others(4): Show |
HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 11/20 | INFO_REALIGN_3_PRIME | chrX | 66199360 | |||||
chrX:66199360
|
T | TCCC | 1 | a0001c0014t0002g0210 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.1864+341_1864+343d others(5): Show |
HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 11/20 | INFO_REALIGN_3_PRIME | chrX | 66199360 | |||||
chrX:66199360
|
T | TCCCC | 1 | a0001c0003t0002g0208 | 1 | HG01081.hp1 | intron_variant | MODIFIER | c.1864+340_1864+343d others(6): Show |
HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 11/20 | INFO_REALIGN_3_PRIME | chrX | 66199360 | |||||
chrX:66199360
|
TC | T | 4 | a0001c0003t0001g0025a0001c0003t0001g0077a0001c0003t0002g0026others(1): Show | 4 | HG02055.hp1 HG02109.hp2 HG03041.hp1 others(1): Show |
intron_variant | MODIFIER | c.1864+343delC | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 11/20 | INFO_REALIGN_3_PRIME | chrX | 66199360 | |||||
chrX:66199369
|
C | CT | 1 | a0001c0002t0002g0009 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.1864+341_1864+342i others(3): Show |
HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 11/20 | chrX | 66199369 | ||||||
chrX:66199551
|
C | T | 1 | a0001c0002t0002g0054 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.1864+523C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 11/20 | chrX | 66199551 | ||||||
chrX:66199709
|
T | A | 1 | a0001c0003t0001g0077 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.1864+681T>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 11/20 | chrX | 66199709 | ||||||
chrX:66199930
|
G | GGT | 2 | a0001c0003t0001g0001a0001c0003t0001g0021 | 3 | HG01167.hp1 HG01169.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.1865-593_1865-592d others(4): Show |
HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 11/20 | INFO_REALIGN_3_PRIME | chrX | 66199930 | |||||
chrX:66199930
|
GGTGT | G | 4 | a0001c0003t0002g0207a0001c0003t0002g0208a0001c0003t0002g0209others(1): Show | 4 | HG00738.hp1 HG01081.hp1 HG02647.hp1 others(1): Show |
intron_variant | MODIFIER | c.1865-595_1865-592d others(6): Show |
HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 11/20 | INFO_REALIGN_3_PRIME | chrX | 66199930 | |||||
chrX:66200241
|
G | GGT | 6 | a0001c0001t0001g0124a0001c0001t0001g0125a0001c0001t0001g0141others(3): Show | 6 | HG02738.hp1 HG02809.hp1 NA18952.hp1 others(3): Show |
intron_variant | MODIFIER | c.1865-268_1865-267d others(4): Show |
HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 11/20 | INFO_REALIGN_3_PRIME | chrX | 66200241 | |||||
chrX:66200241
|
G | GGTGT | 3 | a0001c0001t0001g0145a0001c0003t0001g0025a0001c0003t0001g0077 | 3 | HG00597.hp1 HG02055.hp1 HG02109.hp2 |
intron_variant | MODIFIER | c.1865-270_1865-267d others(6): Show |
HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 11/20 | INFO_REALIGN_3_PRIME | chrX | 66200241 | |||||
chrX:66200241
|
G | GGTGTGT | 3 | a0001c0002t0002g0039a0001c0003t0002g0026a0006c0013t0002g0076 | 3 | HG02257.hp2 HG02273.hp1 HG03041.hp1 |
intron_variant | MODIFIER | c.1865-272_1865-267d others(8): Show |
HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 11/20 | INFO_REALIGN_3_PRIME | chrX | 66200241 | |||||
chrX:66200241
|
G | GGTGTGTG others(1): Show |
43 | a0001c0002t0001g0006a0001c0002t0001g0045a0001c0002t0001g0055others(40): Show | 43 | HG00099.hp2 HG00741.hp1 HG01081.hp2 others(40): Show |
intron_variant | MODIFIER | c.1865-274_1865-267d others(10): Show |
HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 11/20 | INFO_REALIGN_3_PRIME | chrX | 66200241 | |||||
chrX:66200241
|
G | GGTGTGTG others(3): Show |
9 | a0001c0002t0002g0009a0001c0002t0002g0011a0001c0002t0002g0038others(6): Show | 9 | HG01884.hp1 HG02145.hp1 HG02622.hp2 others(6): Show |
intron_variant | MODIFIER | c.1865-276_1865-267d others(12): Show |
HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 11/20 | INFO_REALIGN_3_PRIME | chrX | 66200241 | |||||
chrX:66200241
|
G | GGTGTGTG others(5): Show |
4 | a0001c0002t0002g0010a0001c0002t0002g0069a0001c0003t0002g0207others(1): Show | 4 | HG00733.hp1 HG00738.hp1 HG01081.hp1 others(1): Show |
intron_variant | MODIFIER | c.1865-278_1865-267d others(14): Show |
HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 11/20 | INFO_REALIGN_3_PRIME | chrX | 66200241 | |||||
chrX:66200241
|
G | GGTGTGTG others(7): Show |
3 | a0001c0002t0001g0023a0001c0003t0001g0080a0001c0003t0002g0008 | 3 | HG00735.hp1 HG02896.hp2 HG03130.hp1 |
intron_variant | MODIFIER | c.1865-280_1865-267d others(16): Show |
HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 11/20 | INFO_REALIGN_3_PRIME | chrX | 66200241 | |||||
chrX:66200241
|
G | GGTGTGTG others(9): Show |
6 | a0001c0003t0001g0002a0001c0003t0001g0017a0001c0003t0001g0019others(3): Show | 6 | HG02258.hp1 HG02451.hp1 HG02486.hp1 others(3): Show |
intron_variant | MODIFIER | c.1865-282_1865-267d others(18): Show |
HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 11/20 | INFO_REALIGN_3_PRIME | chrX | 66200241 | |||||
chrX:66200241
|
G | GGTGTGTG others(11): Show |
8 | a0001c0002t0001g0022a0001c0002t0001g0214a0001c0002t0001g0215others(5): Show | 8 | HG01891.hp1 HG02630.hp1 HG02886.hp2 others(5): Show |
intron_variant | MODIFIER | c.1865-284_1865-267d others(20): Show |
HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 11/20 | INFO_REALIGN_3_PRIME | chrX | 66200241 | |||||
chrX:66200241
|
G | GGTGTGTG others(13): Show |
1 | a0001c0003t0001g0001 | 2 | HG01167.hp1 HG01169.hp2 |
intron_variant | MODIFIER | c.1865-286_1865-267d others(22): Show |
HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 11/20 | INFO_REALIGN_3_PRIME | chrX | 66200241 | |||||
chrX:66200241
|
G | GGTGTGTG others(15): Show |
1 | a0002c0004t0002g0013 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.1865-288_1865-267d others(24): Show |
HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 11/20 | INFO_REALIGN_3_PRIME | chrX | 66200241 | |||||
chrX:66200241
|
G | GTGTGTGT others(8): Show |
1 | a0001c0002t0001g0042 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.1865-299_1865-298i others(17): Show |
HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 11/20 | chrX | 66200241 | ||||||
chrX:66200241
|
GGT | G | 7 | a0001c0001t0001g0098a0001c0001t0001g0134a0001c0001t0001g0135others(4): Show | 7 | HG01069.hp1 HG01256.hp1 HG01934.hp1 others(4): Show |
intron_variant | MODIFIER | c.1865-268_1865-267d others(4): Show |
HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 11/20 | INFO_REALIGN_3_PRIME | chrX | 66200241 | |||||
chrX:66200241
|
GGTGT | G | 1 | a0001c0001t0001g0200 | 1 | HG00099.hp1 | intron_variant | MODIFIER | c.1865-270_1865-267d others(6): Show |
HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 11/20 | INFO_REALIGN_3_PRIME | chrX | 66200241 | |||||
chrX:66200273
|
T | TGTGTGTG others(6): Show |
1 | a0001c0003t0002g0081 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.1865-267_1865-266i others(15): Show |
HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 11/20 | chrX | 66200273 | ||||||
chrX:66200273
|
T | TGTGTGTG others(8): Show |
1 | a0001c0002t0001g0024 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.1865-267_1865-266i others(17): Show |
HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 11/20 | chrX | 66200273 | ||||||
chrX:66200273
|
T | TGTGTGTG others(12): Show |
1 | a0001c0010t0001g0079 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.1865-267_1865-266i others(21): Show |
HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 11/20 | chrX | 66200273 | ||||||
chrX:66200767
|
A | G | 214 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(211): Show | 215 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(212): Show |
intron_variant | MODIFIER | c.2077+15A>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 12/20 | chrX | 66200767 | ||||||
chrX:66200813
|
G | A | 1 | a0007c0012t0001g0104 | 1 | NA19067.hp1 | intron_variant | MODIFIER | c.2077+61G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 12/20 | chrX | 66200813 | ||||||
chrX:66201143
|
T | C | 1 | a0001c0001t0001g0149 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.2077+391T>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 12/20 | chrX | 66201143 | ||||||
chrX:66201207
|
C | T | 3 | a0001c0003t0001g0018a0001c0003t0001g0019a0001c0003t0001g0020 | 3 | HG02258.hp1 HG02451.hp1 HG02976.hp2 |
intron_variant | MODIFIER | c.2077+455C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 12/20 | chrX | 66201207 | ||||||
chrX:66201239
|
G | A | 2 | a0001c0001t0001g0105a0001c0001t0001g0128 | 2 | NA18966.hp1 NA19063.hp1 |
intron_variant | MODIFIER | c.2077+487G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 12/20 | chrX | 66201239 | ||||||
chrX:66201331
|
C | T | 3 | a0001c0003t0001g0080a0001c0003t0002g0081a0001c0010t0001g0079 | 3 | HG02615.hp2 HG03130.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.2077+579C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 12/20 | chrX | 66201331 | ||||||
chrX:66201560
|
AT | A | 3 | a0001c0003t0001g0025a0001c0003t0001g0077a0001c0003t0002g0026 | 3 | HG02055.hp1 HG02109.hp2 HG03041.hp1 |
intron_variant | MODIFIER | c.2077+817delT | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 12/20 | INFO_REALIGN_3_PRIME | chrX | 66201560 | |||||
chrX:66201891
|
C | G | 1 | a0001c0002t0002g0068 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.2077+1139C>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 12/20 | chrX | 66201891 | ||||||
chrX:66201907
|
C | T | 1 | a0001c0001t0001g0191 | 1 | HG03710.hp1 | intron_variant | MODIFIER | c.2077+1155C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 12/20 | chrX | 66201907 | ||||||
chrX:66202028
|
A | C | 2 | a0001c0001t0001g0116a0001c0001t0001g0117 | 2 | HG00609.hp1 NA19058.hp1 |
intron_variant | MODIFIER | c.2077+1276A>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 12/20 | chrX | 66202028 | ||||||
chrX:66202143
|
A | T | 1 | a0001c0001t0001g0101 | 1 | HG01516.hp2 | intron_variant | MODIFIER | c.2078-1221A>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 12/20 | chrX | 66202143 | ||||||
chrX:66202173
|
G | T | 1 | a0004c0005t0001g0193 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.2078-1191G>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 12/20 | chrX | 66202173 | ||||||
chrX:66202179
|
G | T | 1 | a0001c0001t0001g0199 | 1 | HG03490.hp1 | intron_variant | MODIFIER | c.2078-1185G>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 12/20 | chrX | 66202179 | ||||||
chrX:66202461
|
G | A | 1 | a0001c0002t0002g0011 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.2078-903G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 12/20 | chrX | 66202461 | ||||||
chrX:66202472
|
T | G | 1 | a0001c0002t0002g0038 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.2078-892T>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 12/20 | chrX | 66202472 | ||||||
chrX:66202909
|
G | A | 1 | a0001c0002t0002g0038 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.2078-455G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 12/20 | chrX | 66202909 | ||||||
chrX:66202912
|
C | CAT | 27 | a0001c0001t0001g0102a0001c0001t0001g0137a0001c0001t0001g0156others(24): Show | 28 | HG00099.hp2 HG00597.hp2 HG01167.hp1 others(25): Show |
intron_variant | MODIFIER | c.2078-426_2078-425d others(4): Show |
HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 12/20 | INFO_REALIGN_3_PRIME | chrX | 66202912 | |||||
chrX:66202912
|
C | CATAT | 14 | a0001c0002t0001g0042a0001c0002t0001g0045a0001c0002t0001g0215others(11): Show | 14 | HG01255.hp1 HG02109.hp1 HG02280.hp2 others(11): Show |
intron_variant | MODIFIER | c.2078-428_2078-425d others(6): Show |
HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 12/20 | INFO_REALIGN_3_PRIME | chrX | 66202912 | |||||
chrX:66202912
|
C | CATATAT | 1 | a0001c0001t0001g0199 | 1 | HG03490.hp1 | intron_variant | MODIFIER | c.2078-430_2078-425d others(8): Show |
HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 12/20 | INFO_REALIGN_3_PRIME | chrX | 66202912 | |||||
chrX:66202912
|
C | CATATATA others(1): Show |
4 | a0001c0002t0002g0052a0001c0002t0002g0075a0001c0003t0001g0028others(1): Show | 4 | HG02622.hp2 HG02922.hp1 HG03225.hp1 others(1): Show |
intron_variant | MODIFIER | c.2078-432_2078-425d others(10): Show |
HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 12/20 | INFO_REALIGN_3_PRIME | chrX | 66202912 | |||||
chrX:66202912
|
C | CATATATA others(3): Show |
3 | a0001c0002t0002g0053a0001c0002t0002g0054a0010c0015t0001g0078 | 3 | HG02809.hp1 HG03540.hp2 NA18906.hp2 |
intron_variant | MODIFIER | c.2078-434_2078-425d others(12): Show |
HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 12/20 | INFO_REALIGN_3_PRIME | chrX | 66202912 | |||||
chrX:66202912
|
C | CATATATA others(5): Show |
5 | a0001c0001t0001g0132a0001c0001t0001g0133a0001c0001t0001g0146others(2): Show | 5 | HG00738.hp1 HG01943.hp1 HG01978.hp1 others(2): Show |
intron_variant | MODIFIER | c.2078-436_2078-425d others(14): Show |
HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 12/20 | INFO_REALIGN_3_PRIME | chrX | 66202912 | |||||
chrX:66202912
|
C | CATATATA others(7): Show |
2 | a0001c0003t0002g0208a0001c0014t0002g0210 | 2 | HG01081.hp1 NA20129.hp1 |
intron_variant | MODIFIER | c.2078-438_2078-425d others(16): Show |
HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 12/20 | INFO_REALIGN_3_PRIME | chrX | 66202912 | |||||
chrX:66202912
|
CAT | C | 6 | a0001c0001t0001g0124a0001c0001t0001g0125a0001c0001t0001g0147others(3): Show | 6 | HG00639.hp1 HG00741.hp2 HG01515.hp1 others(3): Show |
intron_variant | MODIFIER | c.2078-426_2078-425d others(4): Show |
HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 12/20 | INFO_REALIGN_3_PRIME | chrX | 66202912 | |||||
chrX:66202936
|
TATAC | T | 2 | a0001c0002t0002g0010a0001c0002t0002g0070 | 2 | HG01243.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.2078-426_2078-423d others(6): Show |
HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 12/20 | INFO_REALIGN_3_PRIME | chrX | 66202936 | |||||
chrX:66202938
|
T | TATATATA others(3): Show |
1 | a0001c0003t0001g0027 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.2078-425_2078-424i others(12): Show |
HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 12/20 | INFO_REALIGN_3_PRIME | chrX | 66202938 | |||||
chrX:66202938
|
TAC | T | 9 | a0001c0001t0001g0101a0001c0001t0001g0167a0001c0001t0001g0190others(6): Show | 9 | HG00639.hp2 HG01516.hp2 HG02602.hp1 others(6): Show |
intron_variant | MODIFIER | c.2078-408_2078-407d others(4): Show |
HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 12/20 | INFO_REALIGN_3_PRIME | chrX | 66202938 | |||||
chrX:66202940
|
C | T | 72 | a0001c0002t0001g0006a0001c0002t0001g0022a0001c0002t0001g0023others(69): Show | 73 | HG00099.hp2 HG00733.hp1 HG00735.hp1 others(70): Show |
intron_variant | MODIFIER | c.2078-424C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 12/20 | chrX | 66202940 | ||||||
chrX:66202942
|
C | T | 1 | a0010c0015t0001g0078 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.2078-422C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 12/20 | chrX | 66202942 | ||||||
chrX:66202982
|
A | G | 4 | a0001c0003t0002g0207a0001c0003t0002g0208a0001c0003t0002g0209others(1): Show | 4 | HG00738.hp1 HG01081.hp1 HG02647.hp1 others(1): Show |
intron_variant | MODIFIER | c.2078-382A>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 12/20 | chrX | 66202982 | ||||||
chrX:66203083
|
A | G | 1 | a0001c0002t0001g0058 | 1 | HG00741.hp1 | intron_variant | MODIFIER | c.2078-281A>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 12/20 | chrX | 66203083 | ||||||
chrX:66203109
|
T | C | 4 | a0001c0002t0001g0022a0001c0002t0001g0023a0001c0002t0001g0024others(1): Show | 4 | HG02630.hp1 HG02723.hp1 HG02896.hp2 others(1): Show |
intron_variant | MODIFIER | c.2078-255T>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 12/20 | chrX | 66203109 | ||||||
chrX:66203665
|
T | G | 1 | a0010c0015t0001g0078 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.2291+88T>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 13/20 | chrX | 66203665 | ||||||
chrX:66203819
|
C | T | 1 | a0001c0001t0001g0160 | 1 | HG00639.hp1 | intron_variant | MODIFIER | c.2291+242C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 13/20 | chrX | 66203819 | ||||||
chrX:66203872
|
G | A | 1 | a0001c0003t0001g0080 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.2291+295G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 13/20 | chrX | 66203872 | ||||||
chrX:66204001
|
A | T | 1 | a0001c0001t0001g0189 | 1 | NA18970.hp1 | intron_variant | MODIFIER | c.2291+424A>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 13/20 | chrX | 66204001 | ||||||
chrX:66204446
|
T | C | 18 | a0001c0002t0001g0022a0001c0002t0001g0023a0001c0002t0001g0024others(15): Show | 19 | HG00735.hp1 HG01167.hp1 HG01169.hp2 others(16): Show |
intron_variant | MODIFIER | c.2291+869T>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 13/20 | chrX | 66204446 | ||||||
chrX:66204507
|
A | G | 1 | a0001c0001t0001g0131 | 1 | HG02027.hp1 | intron_variant | MODIFIER | c.2291+930A>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 13/20 | chrX | 66204507 | ||||||
chrX:66204539
|
G | A | 1 | a0001c0001t0001g0147 | 1 | NA19079.hp1 | intron_variant | MODIFIER | c.2291+962G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 13/20 | chrX | 66204539 | ||||||
chrX:66204557
|
T | C | 17 | a0001c0002t0001g0045a0001c0002t0002g0043a0001c0002t0002g0044others(14): Show | 17 | HG01255.hp1 HG02109.hp1 HG02145.hp1 others(14): Show |
intron_variant | MODIFIER | c.2291+980T>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 13/20 | chrX | 66204557 | ||||||
chrX:66204628
|
C | T | 3 | a0001c0003t0001g0025a0001c0003t0001g0077a0001c0003t0002g0026 | 3 | HG02055.hp1 HG02109.hp2 HG03041.hp1 |
intron_variant | MODIFIER | c.2291+1051C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 13/20 | chrX | 66204628 | ||||||
chrX:66204699
|
A | T | 50 | a0001c0002t0001g0006a0001c0002t0001g0042a0001c0002t0001g0045others(47): Show | 50 | HG00099.hp2 HG00733.hp1 HG00741.hp1 others(47): Show |
intron_variant | MODIFIER | c.2291+1122A>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 13/20 | chrX | 66204699 | ||||||
chrX:66204703
|
G | A | 1 | a0001c0001t0001g0182 | 1 | HG04204.hp1 | intron_variant | MODIFIER | c.2291+1126G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 13/20 | chrX | 66204703 | ||||||
chrX:66204909
|
G | GT | 2 | a0001c0001t0001g0106a0001c0002t0002g0060 | 2 | HG01891.hp2 NA18965.hp1 |
intron_variant | MODIFIER | c.2291+1339dupT | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 13/20 | INFO_REALIGN_3_PRIME | chrX | 66204909 | |||||
chrX:66205150
|
T | TG | 1 | a0001c0001t0001g0093 | 1 | NA19089.hp1 | intron_variant | MODIFIER | c.2291+1578dupG | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 13/20 | INFO_REALIGN_3_PRIME | chrX | 66205150 | |||||
chrX:66205192
|
ATGC | A | 1 | a0001c0001t0001g0137 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.2291+1618_2291+162 others(7): Show |
HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 13/20 | INFO_REALIGN_3_PRIME | chrX | 66205192 | |||||
chrX:66205226
|
G | A | 7 | a0001c0003t0001g0025a0001c0003t0001g0027a0001c0003t0001g0028others(4): Show | 7 | HG02055.hp1 HG02109.hp2 HG02622.hp2 others(4): Show |
intron_variant | MODIFIER | c.2291+1649G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 13/20 | chrX | 66205226 | ||||||
chrX:66205354
|
C | T | 1 | a0001c0003t0001g0019 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.2291+1777C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 13/20 | chrX | 66205354 | ||||||
chrX:66205398
|
C | T | 79 | a0001c0002t0001g0006a0001c0002t0001g0022a0001c0002t0001g0023others(76): Show | 80 | HG00099.hp2 HG00733.hp1 HG00735.hp1 others(77): Show |
intron_variant | MODIFIER | c.2292-1797C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 13/20 | chrX | 66205398 | ||||||
chrX:66205549
|
A | G | 2 | a0001c0002t0002g0010a0001c0002t0002g0011 | 2 | HG01243.hp1 HG02630.hp2 |
intron_variant | MODIFIER | c.2292-1646A>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 13/20 | chrX | 66205549 | ||||||
chrX:66205585
|
G | A | 2 | a0001c0003t0001g0001a0001c0003t0001g0021 | 3 | HG01167.hp1 HG01169.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.2292-1610G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 13/20 | chrX | 66205585 | ||||||
chrX:66205600
|
C | CT | 18 | a0001c0001t0001g0101a0001c0001t0001g0204a0001c0002t0002g0043others(15): Show | 18 | HG01255.hp1 HG01516.hp2 HG02109.hp1 others(15): Show |
intron_variant | MODIFIER | c.2292-1582dupT | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 13/20 | INFO_REALIGN_3_PRIME | chrX | 66205600 | |||||
chrX:66205600
|
CT | C | 1 | a0001c0001t0001g0084 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.2292-1582delT | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 13/20 | INFO_REALIGN_3_PRIME | chrX | 66205600 | |||||
chrX:66205811
|
A | C | 2 | a0001c0002t0002g0034a0001c0002t0002g0035 | 2 | HG01884.hp2 HG02257.hp1 |
intron_variant | MODIFIER | c.2292-1384A>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 13/20 | chrX | 66205811 | ||||||
chrX:66205962
|
G | T | 4 | a0001c0002t0002g0036a0001c0002t0002g0037a0001c0002t0003g0031others(1): Show | 4 | HG02280.hp1 HG02922.hp2 HG03209.hp1 others(1): Show |
intron_variant | MODIFIER | c.2292-1233G>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 13/20 | chrX | 66205962 | ||||||
chrX:66205969
|
A | G | 4 | a0001c0001t0001g0153a0001c0001t0001g0174a0001c0001t0001g0202others(1): Show | 4 | HG00733.hp2 HG01070.hp2 HG01074.hp1 others(1): Show |
intron_variant | MODIFIER | c.2292-1226A>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 13/20 | chrX | 66205969 | ||||||
chrX:66206074
|
G | T | 72 | a0001c0002t0001g0006a0001c0002t0001g0022a0001c0002t0001g0023others(69): Show | 73 | HG00099.hp2 HG00733.hp1 HG00735.hp1 others(70): Show |
intron_variant | MODIFIER | c.2292-1121G>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 13/20 | chrX | 66206074 | ||||||
chrX:66206244
|
A | T | 3 | a0001c0003t0001g0025a0001c0003t0001g0077a0001c0003t0002g0026 | 3 | HG02055.hp1 HG02109.hp2 HG03041.hp1 |
intron_variant | MODIFIER | c.2292-951A>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 13/20 | chrX | 66206244 | ||||||
chrX:66206304
|
G | A | 1 | a0001c0002t0002g0032 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.2292-891G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 13/20 | chrX | 66206304 | ||||||
chrX:66206334
|
G | T | 1 | a0001c0003t0001g0002 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.2292-861G>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 13/20 | chrX | 66206334 | ||||||
chrX:66206339
|
C | CT | 24 | a0001c0001t0001g0090a0001c0001t0001g0113a0001c0001t0001g0114others(21): Show | 24 | HG00099.hp1 HG00597.hp2 HG00609.hp1 others(21): Show |
intron_variant | MODIFIER | c.2292-813dupT | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 13/20 | INFO_REALIGN_3_PRIME | chrX | 66206339 | |||||
chrX:66206339
|
C | CTT | 10 | a0001c0001t0001g0098a0001c0001t0001g0117a0001c0001t0001g0128others(7): Show | 10 | HG01169.hp1 HG01256.hp1 HG01496.hp2 others(7): Show |
intron_variant | MODIFIER | c.2292-814_2292-813d others(4): Show |
HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 13/20 | INFO_REALIGN_3_PRIME | chrX | 66206339 | |||||
chrX:66206339
|
C | CTTT | 30 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0086others(27): Show | 30 | HG00099.hp2 HG00597.hp1 HG01884.hp1 others(27): Show |
intron_variant | MODIFIER | c.2292-815_2292-813d others(5): Show |
HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 13/20 | INFO_REALIGN_3_PRIME | chrX | 66206339 | |||||
chrX:66206339
|
C | CTTTT | 16 | a0001c0001t0001g0003a0001c0001t0001g0085a0001c0001t0001g0107others(13): Show | 16 | HG00733.hp1 HG01069.hp1 HG01070.hp2 others(13): Show |
intron_variant | MODIFIER | c.2292-816_2292-813d others(6): Show |
HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 13/20 | INFO_REALIGN_3_PRIME | chrX | 66206339 | |||||
chrX:66206339
|
C | CTTTTT | 17 | a0001c0001t0001g0089a0001c0001t0001g0097a0001c0001t0001g0109others(14): Show | 17 | HG00673.hp1 HG00733.hp2 HG00735.hp2 others(14): Show |
intron_variant | MODIFIER | c.2292-817_2292-813d others(7): Show |
HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 13/20 | INFO_REALIGN_3_PRIME | chrX | 66206339 | |||||
chrX:66206339
|
C | CTTTTTT | 6 | a0001c0001t0001g0084a0001c0001t0001g0154a0001c0001t0001g0164others(3): Show | 6 | HG00639.hp2 HG00642.hp1 HG01496.hp1 others(3): Show |
intron_variant | MODIFIER | c.2292-818_2292-813d others(8): Show |
HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 13/20 | INFO_REALIGN_3_PRIME | chrX | 66206339 | |||||
chrX:66206339
|
C | CTTTTTTT | 5 | a0001c0001t0001g0101a0001c0001t0001g0181a0001c0002t0001g0042others(2): Show | 5 | HG00140.hp1 HG01516.hp2 HG02257.hp2 others(2): Show |
intron_variant | MODIFIER | c.2292-819_2292-813d others(9): Show |
HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 13/20 | INFO_REALIGN_3_PRIME | chrX | 66206339 | |||||
chrX:66206339
|
C | CTTTTTTT others(1): Show |
7 | a0001c0001t0001g0093a0001c0001t0001g0111a0001c0001t0001g0157others(4): Show | 7 | HG02004.hp2 HG02132.hp1 HG02273.hp1 others(4): Show |
intron_variant | MODIFIER | c.2292-820_2292-813d others(10): Show |
HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 13/20 | INFO_REALIGN_3_PRIME | chrX | 66206339 | |||||
chrX:66206339
|
C | CTTTTTTT others(2): Show |
2 | a0001c0001t0001g0094a0003c0007t0001g0165 | 2 | NA18995.hp1 NA19009.hp1 |
intron_variant | MODIFIER | c.2292-821_2292-813d others(11): Show |
HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 13/20 | INFO_REALIGN_3_PRIME | chrX | 66206339 | |||||
chrX:66206339
|
C | CTTTTTTT others(3): Show |
3 | a0001c0001t0001g0102a0001c0001t0001g0170a0003c0007t0001g0166 | 3 | HG00741.hp2 NA18974.hp1 NA18984.hp1 |
intron_variant | MODIFIER | c.2292-822_2292-813d others(12): Show |
HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 13/20 | INFO_REALIGN_3_PRIME | chrX | 66206339 | |||||
chrX:66206339
|
C | CTTTTTTT others(4): Show |
3 | a0001c0001t0001g0188a0001c0002t0001g0006a0001c0002t0001g0057 | 3 | HG01081.hp2 HG01106.hp1 HG01358.hp1 |
intron_variant | MODIFIER | c.2292-823_2292-813d others(13): Show |
HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 13/20 | INFO_REALIGN_3_PRIME | chrX | 66206339 | |||||
chrX:66206339
|
CT | C | 21 | a0001c0001t0001g0088a0001c0001t0001g0106a0001c0001t0001g0108others(18): Show | 21 | HG00280.hp1 HG01884.hp2 HG01891.hp2 others(18): Show |
intron_variant | MODIFIER | c.2292-813delT | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 13/20 | INFO_REALIGN_3_PRIME | chrX | 66206339 | |||||
chrX:66206339
|
CTT | C | 1 | a0001c0002t0002g0047 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.2292-814_2292-813d others(4): Show |
HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 13/20 | INFO_REALIGN_3_PRIME | chrX | 66206339 | |||||
chrX:66206339
|
CTTTTTTT others(1): Show |
C | 1 | a0001c0002t0002g0010 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.2292-820_2292-813d others(10): Show |
HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 13/20 | INFO_REALIGN_3_PRIME | chrX | 66206339 | |||||
chrX:66206339
|
CTTTTTTT others(4): Show |
C | 1 | a0001c0002t0002g0046 | 1 | HG01255.hp1 | intron_variant | MODIFIER | c.2292-823_2292-813d others(13): Show |
HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 13/20 | INFO_REALIGN_3_PRIME | chrX | 66206339 | |||||
chrX:66206339
|
CTTTTTTT others(5): Show |
C | 4 | a0001c0001t0001g0095a0001c0001t0001g0112a0001c0001t0001g0155others(1): Show | 4 | HG01952.hp1 HG02273.hp2 NA18944.hp1 others(1): Show |
intron_variant | MODIFIER | c.2292-824_2292-813d others(14): Show |
HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 13/20 | INFO_REALIGN_3_PRIME | chrX | 66206339 | |||||
chrX:66206339
|
CTTTTTTT others(6): Show |
C | 3 | a0001c0001t0001g0118a0001c0003t0001g0077a0001c0003t0001g0080 | 3 | HG01070.hp1 HG02055.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.2292-825_2292-813d others(15): Show |
HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 13/20 | INFO_REALIGN_3_PRIME | chrX | 66206339 | |||||
chrX:66206339
|
CTTTTTTT others(7): Show |
C | 11 | a0001c0003t0001g0002a0001c0003t0001g0017a0001c0003t0001g0019others(8): Show | 11 | HG00735.hp1 HG01891.hp1 HG02109.hp2 others(8): Show |
intron_variant | MODIFIER | c.2292-826_2292-813d others(16): Show |
HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 13/20 | INFO_REALIGN_3_PRIME | chrX | 66206339 | |||||
chrX:66206339
|
CTTTTTTT others(8): Show |
C | 8 | a0001c0003t0001g0018a0001c0003t0001g0020a0001c0003t0001g0027others(5): Show | 8 | HG02451.hp1 HG02622.hp2 HG02896.hp1 others(5): Show |
intron_variant | MODIFIER | c.2292-827_2292-813d others(17): Show |
HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 13/20 | INFO_REALIGN_3_PRIME | chrX | 66206339 | |||||
chrX:66206339
|
CTTTTTTT others(9): Show |
C | 7 | a0001c0001t0001g0100a0001c0001t0001g0183a0001c0003t0001g0030others(4): Show | 7 | HG00738.hp1 HG01081.hp1 HG02129.hp1 others(4): Show |
intron_variant | MODIFIER | c.2292-828_2292-813d others(18): Show |
HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 13/20 | INFO_REALIGN_3_PRIME | chrX | 66206339 | |||||
chrX:66206339
|
CTTTTTTT others(11): Show |
C | 1 | a0001c0001t0001g0198 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.2292-830_2292-813d others(20): Show |
HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 13/20 | INFO_REALIGN_3_PRIME | chrX | 66206339 | |||||
chrX:66206339
|
CTTTTTTT others(17): Show |
C | 1 | a0001c0003t0001g0001 | 2 | HG01167.hp1 HG01169.hp2 |
intron_variant | MODIFIER | c.2292-836_2292-813d others(26): Show |
HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 13/20 | INFO_REALIGN_3_PRIME | chrX | 66206339 | |||||
chrX:66206339
|
CTTTTTTT others(18): Show |
C | 1 | a0001c0003t0001g0021 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.2292-837_2292-813d others(27): Show |
HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 13/20 | INFO_REALIGN_3_PRIME | chrX | 66206339 | |||||
chrX:66206539
|
T | A | 2 | a0001c0002t0001g0042a0001c0002t0001g0215 | 2 | HG02280.hp2 HG02886.hp2 |
intron_variant | MODIFIER | c.2292-656T>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 13/20 | chrX | 66206539 | ||||||
chrX:66206924
|
G | A | 3 | a0001c0001t0001g0085a0001c0001t0001g0124a0001c0001t0001g0125 | 3 | NA18943.hp1 NA18961.hp1 NA18990.hp1 |
intron_variant | MODIFIER | c.2292-271G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 13/20 | chrX | 66206924 | ||||||
chrX:66207070
|
T | C | 2 | a0001c0001t0001g0169a0001c0001t0001g0170 | 2 | HG00741.hp2 HG01515.hp1 |
intron_variant | MODIFIER | c.2292-125T>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 13/20 | chrX | 66207070 | ||||||
chrX:66207078
|
C | CT | 1 | a0001c0001t0001g0141 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.2292-107dupT | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 13/20 | INFO_REALIGN_3_PRIME | chrX | 66207078 | |||||
chrX:66207079
|
T | C | 2 | a0001c0001t0001g0113a0001c0001t0001g0114 | 2 | HG02615.hp1 HG03041.hp2 |
intron_variant | MODIFIER | c.2292-116T>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 13/20 | chrX | 66207079 | ||||||
chrX:66207476
|
C | A | 3 | a0001c0003t0001g0025a0001c0003t0001g0077a0001c0003t0002g0026 | 3 | HG02055.hp1 HG02109.hp2 HG03041.hp1 |
intron_variant | MODIFIER | c.2431+142C>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 14/20 | chrX | 66207476 | ||||||
chrX:66207481
|
A | G | 1 | a0001c0001t0001g0183 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.2431+147A>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 14/20 | chrX | 66207481 | ||||||
chrX:66207509
|
G | A | 1 | a0002c0004t0002g0014 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.2431+175G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 14/20 | chrX | 66207509 | ||||||
chrX:66207512
|
AATC | A | 4 | a0001c0003t0002g0207a0001c0003t0002g0208a0001c0003t0002g0209others(1): Show | 4 | HG00738.hp1 HG01081.hp1 HG02647.hp1 others(1): Show |
intron_variant | MODIFIER | c.2431+181_2431+183d others(5): Show |
HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 14/20 | INFO_REALIGN_3_PRIME | chrX | 66207512 | |||||
chrX:66207589
|
A | G | 14 | a0001c0003t0001g0001a0001c0003t0001g0002a0001c0003t0001g0017others(11): Show | 15 | HG00735.hp1 HG01167.hp1 HG01169.hp2 others(12): Show |
intron_variant | MODIFIER | c.2431+255A>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 14/20 | chrX | 66207589 | ||||||
chrX:66207672
|
G | T | 4 | a0001c0002t0002g0039a0001c0002t0002g0040a0001c0002t0002g0041others(1): Show | 4 | HG01884.hp1 HG02257.hp2 HG02451.hp2 others(1): Show |
intron_variant | MODIFIER | c.2431+338G>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 14/20 | chrX | 66207672 | ||||||
chrX:66207676
|
C | T | 1 | a0010c0015t0001g0078 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.2431+342C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 14/20 | chrX | 66207676 | ||||||
chrX:66207722
|
TG | T | 1 | a0001c0001t0001g0084 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.2431+390delG | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 14/20 | INFO_REALIGN_3_PRIME | chrX | 66207722 | |||||
chrX:66207731
|
A | G | 14 | a0001c0003t0001g0001a0001c0003t0001g0002a0001c0003t0001g0017others(11): Show | 15 | HG00735.hp1 HG01167.hp1 HG01169.hp2 others(12): Show |
intron_variant | MODIFIER | c.2432-384A>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 14/20 | chrX | 66207731 | ||||||
chrX:66207739
|
A | C | 1 | a0010c0015t0001g0078 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.2432-376A>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 14/20 | chrX | 66207739 | ||||||
chrX:66207771
|
A | T | 3 | a0001c0003t0001g0080a0001c0003t0002g0081a0001c0010t0001g0079 | 3 | HG02615.hp2 HG03130.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.2432-344A>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 14/20 | chrX | 66207771 | ||||||
chrX:66207864
|
TG | T | 1 | a0001c0001t0001g0084 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.2432-248delG | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 14/20 | INFO_REALIGN_3_PRIME | chrX | 66207864 | |||||
chrX:66207910
|
C | T | 7 | a0001c0003t0001g0025a0001c0003t0001g0027a0001c0003t0001g0028others(4): Show | 7 | HG02055.hp1 HG02109.hp2 HG02622.hp2 others(4): Show |
intron_variant | MODIFIER | c.2432-205C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 14/20 | chrX | 66207910 | ||||||
chrX:66207963
|
G | A | 3 | a0001c0003t0002g0207a0001c0003t0002g0208a0001c0003t0002g0209 | 3 | HG00738.hp1 HG01081.hp1 HG02647.hp1 |
intron_variant | MODIFIER | c.2432-152G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 14/20 | chrX | 66207963 | ||||||
chrX:66208256
|
G | A | 4 | a0001c0003t0002g0207a0001c0003t0002g0208a0001c0003t0002g0209others(1): Show | 4 | HG00738.hp1 HG01081.hp1 HG02647.hp1 others(1): Show |
intron_variant | MODIFIER | c.2563+10G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66208256 | ||||||
chrX:66208631
|
C | CAT | 2 | a0001c0001t0001g0118a0001c0001t0001g0138 | 2 | HG01070.hp1 HG02056.hp1 |
intron_variant | MODIFIER | c.2563+430_2563+431d others(4): Show |
HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chrX | 66208631 | |||||
chrX:66208631
|
C | CATAT | 4 | a0001c0001t0001g0123a0001c0001t0001g0131a0001c0001t0001g0205others(1): Show | 4 | HG00621.hp1 HG02027.hp1 HG02723.hp1 others(1): Show |
intron_variant | MODIFIER | c.2563+428_2563+431d others(6): Show |
HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chrX | 66208631 | |||||
chrX:66208631
|
C | CATATAT | 5 | a0001c0001t0001g0120a0001c0001t0001g0143a0001c0001t0001g0161others(2): Show | 5 | HG01257.hp2 HG01258.hp1 NA18949.hp1 others(2): Show |
intron_variant | MODIFIER | c.2563+426_2563+431d others(8): Show |
HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chrX | 66208631 | |||||
chrX:66208631
|
CAT | C | 79 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(76): Show | 79 | HG00099.hp1 HG00597.hp1 HG00597.hp2 others(76): Show |
intron_variant | MODIFIER | c.2563+430_2563+431d others(4): Show |
HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chrX | 66208631 | |||||
chrX:66208631
|
CATAT | C | 56 | a0001c0001t0001g0099a0001c0001t0001g0102a0001c0001t0001g0106others(53): Show | 56 | HG00099.hp2 HG00140.hp1 HG00733.hp1 others(53): Show |
intron_variant | MODIFIER | c.2563+428_2563+431d others(6): Show |
HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chrX | 66208631 | |||||
chrX:66208631
|
CATATAT | C | 25 | a0001c0001t0001g0084a0001c0001t0001g0090a0001c0001t0001g0096others(22): Show | 25 | HG00733.hp2 HG00741.hp1 HG01109.hp1 others(22): Show |
intron_variant | MODIFIER | c.2563+426_2563+431d others(8): Show |
HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chrX | 66208631 | |||||
chrX:66208631
|
CATATATA others(1): Show |
C | 8 | a0001c0001t0001g0105a0001c0001t0001g0128a0001c0001t0001g0212others(5): Show | 8 | HG01081.hp2 HG01243.hp1 HG02145.hp1 others(5): Show |
intron_variant | MODIFIER | c.2563+424_2563+431d others(10): Show |
HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chrX | 66208631 | |||||
chrX:66208631
|
CATATATA others(3): Show |
C | 2 | a0001c0001t0001g0199a0001c0002t0002g0070 | 2 | HG03490.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.2563+422_2563+431d others(12): Show |
HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chrX | 66208631 | |||||
chrX:66208631
|
CATATATA others(5): Show |
C | 3 | a0001c0001t0001g0089a0001c0001t0002g0091a0009c0008t0001g0092 | 3 | HG00280.hp1 HG00673.hp1 NA19005.hp1 |
intron_variant | MODIFIER | c.2563+420_2563+431d others(14): Show |
HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chrX | 66208631 | |||||
chrX:66208631
|
CATATATA others(13): Show |
C | 3 | a0001c0002t0002g0043a0001c0002t0002g0047a0001c0002t0002g0050 | 3 | HG02723.hp2 HG02895.hp1 HG02976.hp1 |
intron_variant | MODIFIER | c.2563+412_2563+431d others(22): Show |
HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chrX | 66208631 | |||||
chrX:66208631
|
CATATATA others(15): Show |
C | 6 | a0001c0003t0001g0025a0001c0003t0001g0027a0001c0003t0001g0028others(3): Show | 6 | HG01081.hp1 HG02109.hp2 HG02622.hp2 others(3): Show |
intron_variant | MODIFIER | c.2563+410_2563+431d others(24): Show |
HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chrX | 66208631 | |||||
chrX:66208631
|
CATATATA others(17): Show |
C | 8 | a0001c0003t0001g0017a0001c0003t0001g0021a0001c0003t0001g0077others(5): Show | 8 | HG00738.hp1 HG02055.hp1 HG02622.hp1 others(5): Show |
intron_variant | MODIFIER | c.2563+408_2563+431d others(26): Show |
HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chrX | 66208631 | |||||
chrX:66208631
|
CATATATA others(19): Show |
C | 11 | a0001c0003t0001g0001a0001c0003t0001g0002a0001c0003t0001g0018others(8): Show | 12 | HG00735.hp1 HG01167.hp1 HG01169.hp2 others(9): Show |
intron_variant | MODIFIER | c.2563+406_2563+431d others(28): Show |
HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chrX | 66208631 | |||||
chrX:66208631
|
CATATATA others(21): Show |
C | 3 | a0001c0003t0001g0080a0001c0003t0002g0081a0001c0010t0001g0079 | 3 | HG02615.hp2 HG03130.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.2563+404_2563+431d others(30): Show |
HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chrX | 66208631 | |||||
chrX:66208631
|
CATATATA others(23): Show |
C | 1 | a0001c0001t0001g0132 | 1 | HG02004.hp1 | intron_variant | MODIFIER | c.2563+402_2563+431d others(32): Show |
HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chrX | 66208631 | |||||
chrX:66208635
|
T | C | 1 | a0001c0002t0002g0009 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.2563+389T>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66208635 | ||||||
chrX:66208639
|
T | C | 1 | a0001c0001t0001g0176 | 1 | NA19088.hp1 | intron_variant | MODIFIER | c.2563+393T>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66208639 | ||||||
chrX:66208687
|
G | T | 57 | a0001c0002t0001g0006a0001c0002t0001g0022a0001c0002t0001g0023others(54): Show | 57 | HG00099.hp2 HG00733.hp1 HG00741.hp1 others(54): Show |
intron_variant | MODIFIER | c.2563+441G>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66208687 | ||||||
chrX:66208770
|
G | A | 1 | a0001c0001t0001g0198 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.2563+524G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66208770 | ||||||
chrX:66209119
|
C | T | 4 | a0001c0003t0002g0207a0001c0003t0002g0208a0001c0003t0002g0209others(1): Show | 4 | HG00738.hp1 HG01081.hp1 HG02647.hp1 others(1): Show |
intron_variant | MODIFIER | c.2563+873C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66209119 | ||||||
chrX:66209155
|
A | G | 9 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(6): Show | 9 | HG00621.hp1 HG02132.hp1 NA18747.hp1 others(6): Show |
intron_variant | MODIFIER | c.2563+909A>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66209155 | ||||||
chrX:66209606
|
G | T | 1 | a0008c0009t0001g0159 | 1 | NA18983.hp1 | intron_variant | MODIFIER | c.2563+1360G>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66209606 | ||||||
chrX:66209622
|
G | T | 1 | a0001c0002t0002g0011 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.2563+1376G>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66209622 | ||||||
chrX:66209706
|
GT | G | 1 | a0001c0001t0001g0084 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.2563+1465delT | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chrX | 66209706 | |||||
chrX:66210342
|
G | A | 2 | a0001c0001t0001g0089a0001c0001t0002g0091 | 2 | HG00673.hp1 NA19005.hp1 |
intron_variant | MODIFIER | c.2563+2096G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66210342 | ||||||
chrX:66210623
|
G | T | 2 | a0001c0003t0002g0007a0001c0003t0002g0008 | 2 | HG00735.hp1 HG02896.hp1 |
intron_variant | MODIFIER | c.2563+2377G>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66210623 | ||||||
chrX:66210663
|
G | T | 1 | a0001c0003t0001g0019 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.2563+2417G>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66210663 | ||||||
chrX:66210963
|
C | T | 2 | a0001c0001t0001g0202a0001c0001t0001g0203 | 2 | HG01070.hp2 HG01074.hp1 |
intron_variant | MODIFIER | c.2563+2717C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66210963 | ||||||
chrX:66211415
|
C | A | 1 | a0001c0001t0001g0160 | 1 | HG00639.hp1 | intron_variant | MODIFIER | c.2563+3169C>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66211415 | ||||||
chrX:66211423
|
G | T | 13 | a0001c0003t0001g0001a0001c0003t0001g0002a0001c0003t0001g0018others(10): Show | 14 | HG00735.hp1 HG01167.hp1 HG01169.hp2 others(11): Show |
intron_variant | MODIFIER | c.2563+3177G>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66211423 | ||||||
chrX:66211450
|
G | C | 10 | a0001c0003t0001g0018a0001c0003t0001g0019a0001c0003t0001g0020others(7): Show | 10 | HG00735.hp1 HG01891.hp1 HG02258.hp1 others(7): Show |
intron_variant | MODIFIER | c.2563+3204G>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66211450 | ||||||
chrX:66211685
|
G | T | 1 | a0001c0002t0002g0062 | 1 | HG01993.hp1 | intron_variant | MODIFIER | c.2563+3439G>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66211685 | ||||||
chrX:66211804
|
G | A | 1 | a0001c0003t0002g0207 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.2563+3558G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66211804 | ||||||
chrX:66211864
|
A | T | 57 | a0001c0002t0001g0006a0001c0002t0001g0022a0001c0002t0001g0023others(54): Show | 57 | HG00099.hp2 HG00733.hp1 HG00741.hp1 others(54): Show |
intron_variant | MODIFIER | c.2563+3618A>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66211864 | ||||||
chrX:66211883
|
A | G | 2 | a0001c0002t0001g0042a0001c0002t0001g0215 | 2 | HG02280.hp2 HG02886.hp2 |
intron_variant | MODIFIER | c.2563+3637A>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66211883 | ||||||
chrX:66212080
|
TC | T | 1 | a0001c0001t0001g0084 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.2563+3837delC | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chrX | 66212080 | |||||
chrX:66212186
|
G | GT | 10 | a0001c0001t0001g0114a0001c0001t0001g0142a0001c0001t0001g0152others(7): Show | 10 | HG00733.hp2 HG01106.hp1 HG01433.hp1 others(7): Show |
intron_variant | MODIFIER | c.2563+3954dupT | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chrX | 66212186 | |||||
chrX:66212186
|
GT | G | 11 | a0001c0001t0001g0090a0001c0001t0001g0120a0001c0001t0001g0167others(8): Show | 11 | HG02109.hp2 HG02165.hp1 HG02622.hp2 others(8): Show |
intron_variant | MODIFIER | c.2563+3954delT | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chrX | 66212186 | |||||
chrX:66212186
|
GTT | G | 43 | a0001c0002t0001g0006a0001c0002t0001g0022a0001c0002t0001g0023others(40): Show | 44 | HG00741.hp1 HG01081.hp2 HG01167.hp1 others(41): Show |
intron_variant | MODIFIER | c.2563+3953_2563+395 others(6): Show |
HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chrX | 66212186 | |||||
chrX:66212186
|
GTTT | G | 28 | a0001c0002t0002g0010a0001c0002t0002g0011a0001c0002t0002g0039others(25): Show | 28 | HG00099.hp2 HG00733.hp1 HG00735.hp1 others(25): Show |
intron_variant | MODIFIER | c.2563+3952_2563+395 others(7): Show |
HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chrX | 66212186 | |||||
chrX:66212275
|
T | C | 1 | a0001c0001t0001g0168 | 1 | HG02132.hp1 | intron_variant | MODIFIER | c.2563+4029T>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66212275 | ||||||
chrX:66212689
|
T | A | 1 | a0001c0002t0002g0032 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.2563+4443T>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66212689 | ||||||
chrX:66212730
|
T | C | 1 | a0001c0003t0001g0002 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.2563+4484T>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66212730 | ||||||
chrX:66212743
|
A | T | 1 | a0001c0003t0002g0208 | 1 | HG01081.hp1 | intron_variant | MODIFIER | c.2563+4497A>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66212743 | ||||||
chrX:66212760
|
G | GTTTA | 1 | a0001c0001t0001g0100 | 1 | HG02129.hp1 | intron_variant | MODIFIER | c.2563+4530_2563+453 others(8): Show |
HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chrX | 66212760 | |||||
chrX:66212914
|
G | C | 1 | a0001c0003t0001g0001 | 2 | HG01167.hp1 HG01169.hp2 |
intron_variant | MODIFIER | c.2563+4668G>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66212914 | ||||||
chrX:66212951
|
AT | A | 3 | a0001c0002t0002g0037a0001c0002t0003g0031a0001c0002t0003g0033 | 3 | HG02280.hp1 HG02922.hp2 HG03209.hp1 |
intron_variant | MODIFIER | c.2563+4713delT | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chrX | 66212951 | |||||
chrX:66213002
|
GT | G | 8 | a0001c0001t0001g0121a0001c0001t0001g0122a0001c0001t0001g0141others(5): Show | 8 | HG00738.hp1 HG01081.hp1 HG02647.hp1 others(5): Show |
intron_variant | MODIFIER | c.2563+4764delT | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chrX | 66213002 | |||||
chrX:66213109
|
G | T | 1 | a0001c0002t0002g0038 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.2563+4863G>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66213109 | ||||||
chrX:66213169
|
T | G | 7 | a0001c0003t0001g0025a0001c0003t0001g0027a0001c0003t0001g0028others(4): Show | 7 | HG02055.hp1 HG02109.hp2 HG02622.hp2 others(4): Show |
intron_variant | MODIFIER | c.2563+4923T>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66213169 | ||||||
chrX:66213178
|
T | TC | 1 | a0001c0001t0001g0101 | 1 | HG01516.hp2 | intron_variant | MODIFIER | c.2563+4938dupC | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chrX | 66213178 | |||||
chrX:66213220
|
T | C | 1 | a0001c0001t0001g0109 | 1 | NA18945.hp1 | intron_variant | MODIFIER | c.2563+4974T>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66213220 | ||||||
chrX:66213280
|
C | T | 6 | a0001c0003t0002g0012a0001c0003t0002g0016a0001c0003t0002g0208others(3): Show | 6 | HG01081.hp1 HG01891.hp1 HG02717.hp1 others(3): Show |
intron_variant | MODIFIER | c.2563+5034C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66213280 | ||||||
chrX:66213303
|
T | C | 1 | a0001c0002t0002g0009 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.2563+5057T>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66213303 | ||||||
chrX:66213400
|
CA | C | 1 | a0001c0001t0001g0084 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.2563+5156delA | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chrX | 66213400 | |||||
chrX:66213452
|
A | G | 11 | a0001c0003t0001g0002a0001c0003t0001g0018a0001c0003t0001g0019others(8): Show | 11 | HG00735.hp1 HG01891.hp1 HG02258.hp1 others(8): Show |
intron_variant | MODIFIER | c.2563+5206A>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66213452 | ||||||
chrX:66213695
|
T | C | 1 | a0001c0002t0002g0063 | 1 | HG01978.hp2 | intron_variant | MODIFIER | c.2563+5449T>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66213695 | ||||||
chrX:66213697
|
A | G | 57 | a0001c0002t0001g0006a0001c0002t0001g0022a0001c0002t0001g0023others(54): Show | 57 | HG00099.hp2 HG00733.hp1 HG00741.hp1 others(54): Show |
intron_variant | MODIFIER | c.2563+5451A>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66213697 | ||||||
chrX:66213839
|
A | G | 1 | a0001c0002t0002g0044 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.2563+5593A>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66213839 | ||||||
chrX:66214015
|
C | T | 6 | a0001c0001t0001g0171a0001c0001t0001g0172a0001c0001t0001g0173others(3): Show | 6 | HG02015.hp1 HG02074.hp1 HG02165.hp2 others(3): Show |
intron_variant | MODIFIER | c.2563+5769C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66214015 | ||||||
chrX:66214033
|
C | T | 1 | a0001c0001t0001g0106 | 1 | NA18965.hp1 | intron_variant | MODIFIER | c.2563+5787C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66214033 | ||||||
chrX:66214063
|
T | A | 1 | a0001c0002t0002g0011 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.2563+5817T>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66214063 | ||||||
chrX:66214328
|
C | T | 1 | a0001c0001t0001g0179 | 1 | HG02165.hp2 | intron_variant | MODIFIER | c.2563+6082C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66214328 | ||||||
chrX:66214422
|
G | A | 5 | a0001c0001t0001g0160a0001c0001t0001g0161a0001c0001t0001g0162others(2): Show | 5 | HG00639.hp1 HG01257.hp2 HG01258.hp1 others(2): Show |
intron_variant | MODIFIER | c.2563+6176G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66214422 | ||||||
chrX:66214727
|
ATTTTC | A | 57 | a0001c0002t0001g0006a0001c0002t0001g0022a0001c0002t0001g0023others(54): Show | 57 | HG00099.hp2 HG00733.hp1 HG00741.hp1 others(54): Show |
intron_variant | MODIFIER | c.2563+6484_2563+648 others(9): Show |
HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chrX | 66214727 | |||||
chrX:66214787
|
C | T | 1 | a0001c0001t0001g0004 | 1 | NA18994.hp1 | intron_variant | MODIFIER | c.2563+6541C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66214787 | ||||||
chrX:66215415
|
T | G | 57 | a0001c0002t0001g0006a0001c0002t0001g0022a0001c0002t0001g0023others(54): Show | 57 | HG00099.hp2 HG00733.hp1 HG00741.hp1 others(54): Show |
intron_variant | MODIFIER | c.2563+7169T>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66215415 | ||||||
chrX:66215887
|
C | T | 1 | a0001c0001t0001g0195 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.2563+7641C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66215887 | ||||||
chrX:66216291
|
T | C | 1 | a0001c0001t0001g0110 | 1 | NA18955.hp1 | intron_variant | MODIFIER | c.2563+8045T>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66216291 | ||||||
chrX:66216313
|
G | A | 1 | a0001c0002t0002g0047 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.2563+8067G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66216313 | ||||||
chrX:66216387
|
A | C | 1 | a0001c0001t0001g0095 | 1 | HG01952.hp1 | intron_variant | MODIFIER | c.2563+8141A>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66216387 | ||||||
chrX:66216732
|
G | A | 1 | a0010c0015t0001g0078 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.2563+8486G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66216732 | ||||||
chrX:66216791
|
G | T | 4 | a0001c0003t0002g0207a0001c0003t0002g0208a0001c0003t0002g0209others(1): Show | 4 | HG00738.hp1 HG01081.hp1 HG02647.hp1 others(1): Show |
intron_variant | MODIFIER | c.2563+8545G>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66216791 | ||||||
chrX:66217034
|
G | C | 1 | a0001c0002t0002g0011 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.2563+8788G>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66217034 | ||||||
chrX:66217053
|
G | T | 1 | a0004c0005t0001g0185 | 1 | NA19055.hp1 | intron_variant | MODIFIER | c.2563+8807G>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66217053 | ||||||
chrX:66217154
|
G | A | 28 | a0001c0003t0001g0001a0001c0003t0001g0002a0001c0003t0001g0017others(25): Show | 29 | HG00735.hp1 HG00738.hp1 HG01081.hp1 others(26): Show |
intron_variant | MODIFIER | c.2563+8908G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66217154 | ||||||
chrX:66217213
|
G | T | 1 | a0001c0001t0001g0195 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.2563+8967G>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66217213 | ||||||
chrX:66217591
|
T | C | 57 | a0001c0002t0001g0006a0001c0002t0001g0022a0001c0002t0001g0023others(54): Show | 57 | HG00099.hp2 HG00733.hp1 HG00741.hp1 others(54): Show |
intron_variant | MODIFIER | c.2563+9345T>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66217591 | ||||||
chrX:66217638
|
G | C | 14 | a0001c0003t0001g0001a0001c0003t0001g0002a0001c0003t0001g0017others(11): Show | 15 | HG00735.hp1 HG01167.hp1 HG01169.hp2 others(12): Show |
intron_variant | MODIFIER | c.2563+9392G>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66217638 | ||||||
chrX:66217897
|
A | C | 1 | a0001c0003t0001g0019 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.2563+9651A>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66217897 | ||||||
chrX:66218325
|
C | G | 3 | a0001c0003t0001g0080a0001c0003t0002g0081a0001c0010t0001g0079 | 3 | HG02615.hp2 HG03130.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.2563+10079C>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66218325 | ||||||
chrX:66218477
|
T | TA | 1 | a0002c0004t0002g0013 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.2563+10237dupA | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chrX | 66218477 | |||||
chrX:66218741
|
A | G | 1 | a0001c0002t0002g0060 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.2563+10495A>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66218741 | ||||||
chrX:66218753
|
G | A | 1 | a0001c0001t0001g0145 | 1 | HG00597.hp1 | intron_variant | MODIFIER | c.2563+10507G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66218753 | ||||||
chrX:66218774
|
C | T | 57 | a0001c0002t0001g0006a0001c0002t0001g0022a0001c0002t0001g0023others(54): Show | 57 | HG00099.hp2 HG00733.hp1 HG00741.hp1 others(54): Show |
intron_variant | MODIFIER | c.2563+10528C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66218774 | ||||||
chrX:66218851
|
CAT | C | 54 | a0001c0002t0001g0006a0001c0002t0001g0022a0001c0002t0001g0023others(51): Show | 54 | HG00099.hp2 HG00733.hp1 HG00741.hp1 others(51): Show |
intron_variant | MODIFIER | c.2563+10607_2563+10 others(8): Show |
HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chrX | 66218851 | |||||
chrX:66218967
|
G | A | 1 | a0010c0015t0001g0078 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.2563+10721G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66218967 | ||||||
chrX:66218981
|
A | G | 1 | a0001c0003t0001g0080 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.2563+10735A>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66218981 | ||||||
chrX:66219120
|
G | C | 1 | a0001c0002t0002g0053 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.2563+10874G>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66219120 | ||||||
chrX:66219179
|
A | G | 86 | a0001c0002t0001g0006a0001c0002t0001g0022a0001c0002t0001g0023others(83): Show | 87 | HG00099.hp2 HG00733.hp1 HG00735.hp1 others(84): Show |
intron_variant | MODIFIER | c.2563+10933A>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66219179 | ||||||
chrX:66219392
|
TAGTA | T | 2 | a0001c0001t0001g0113a0001c0001t0001g0114 | 2 | HG02615.hp1 HG03041.hp2 |
intron_variant | MODIFIER | c.2563+11149_2563+11 others(10): Show |
HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chrX | 66219392 | |||||
chrX:66219414
|
G | A | 3 | a0001c0003t0001g0027a0001c0003t0001g0028a0001c0003t0001g0029 | 3 | HG02622.hp2 HG02922.hp1 HG03098.hp1 |
intron_variant | MODIFIER | c.2563+11168G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66219414 | ||||||
chrX:66219529
|
G | A | 1 | a0001c0001t0001g0188 | 1 | HG01106.hp1 | intron_variant | MODIFIER | c.2563+11283G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66219529 | ||||||
chrX:66219598
|
C | T | 3 | a0001c0001t0001g0095a0001c0001t0001g0112a0001c0001t0001g0118 | 3 | HG01070.hp1 HG01952.hp1 HG02273.hp2 |
intron_variant | MODIFIER | c.2563+11352C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66219598 | ||||||
chrX:66219622
|
C | T | 57 | a0001c0002t0001g0006a0001c0002t0001g0022a0001c0002t0001g0023others(54): Show | 57 | HG00099.hp2 HG00733.hp1 HG00741.hp1 others(54): Show |
intron_variant | MODIFIER | c.2563+11376C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66219622 | ||||||
chrX:66219807
|
G | A | 57 | a0001c0002t0001g0006a0001c0002t0001g0022a0001c0002t0001g0023others(54): Show | 57 | HG00099.hp2 HG00733.hp1 HG00741.hp1 others(54): Show |
intron_variant | MODIFIER | c.2563+11561G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66219807 | ||||||
chrX:66219911
|
G | A | 1 | a0001c0001t0001g0167 | 1 | NA18949.hp1 | intron_variant | MODIFIER | c.2563+11665G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66219911 | ||||||
chrX:66220762
|
A | G | 1 | a0001c0003t0001g0002 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.2563+12516A>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66220762 | ||||||
chrX:66220923
|
C | T | 2 | a0001c0001t0001g0158a0008c0009t0001g0159 | 2 | NA18983.hp1 NA18986.hp1 |
intron_variant | MODIFIER | c.2563+12677C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66220923 | ||||||
chrX:66220965
|
AT | A | 3 | a0001c0001t0001g0132a0001c0001t0001g0133a0001c0001t0001g0146 | 3 | HG01943.hp1 HG01978.hp1 HG02004.hp1 |
intron_variant | MODIFIER | c.2563+12724delT | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chrX | 66220965 | |||||
chrX:66221129
|
G | A | 3 | a0001c0003t0001g0080a0001c0003t0002g0081a0001c0010t0001g0079 | 3 | HG02615.hp2 HG03130.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.2563+12883G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66221129 | ||||||
chrX:66221180
|
G | A | 57 | a0001c0002t0001g0006a0001c0002t0001g0022a0001c0002t0001g0023others(54): Show | 57 | HG00099.hp2 HG00733.hp1 HG00741.hp1 others(54): Show |
intron_variant | MODIFIER | c.2563+12934G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66221180 | ||||||
chrX:66221432
|
G | A | 4 | a0001c0002t0002g0036a0001c0002t0002g0037a0001c0002t0003g0031others(1): Show | 4 | HG02280.hp1 HG02922.hp2 HG03209.hp1 others(1): Show |
intron_variant | MODIFIER | c.2563+13186G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66221432 | ||||||
chrX:66221509
|
G | T | 1 | a0001c0001t0001g0119 | 1 | HG03834.hp1 | intron_variant | MODIFIER | c.2563+13263G>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66221509 | ||||||
chrX:66221685
|
C | T | 1 | a0001c0003t0001g0002 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.2563+13439C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66221685 | ||||||
chrX:66221780
|
A | G | 3 | a0001c0003t0001g0080a0001c0003t0002g0081a0001c0010t0001g0079 | 3 | HG02615.hp2 HG03130.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.2563+13534A>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66221780 | ||||||
chrX:66221889
|
A | G | 86 | a0001c0002t0001g0006a0001c0002t0001g0022a0001c0002t0001g0023others(83): Show | 87 | HG00099.hp2 HG00733.hp1 HG00735.hp1 others(84): Show |
intron_variant | MODIFIER | c.2563+13643A>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66221889 | ||||||
chrX:66221969
|
G | T | 1 | a0010c0015t0001g0078 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.2563+13723G>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66221969 | ||||||
chrX:66222262
|
T | C | 3 | a0001c0001t0001g0132a0001c0001t0001g0133a0001c0001t0001g0146 | 3 | HG01943.hp1 HG01978.hp1 HG02004.hp1 |
intron_variant | MODIFIER | c.2563+14016T>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66222262 | ||||||
chrX:66222349
|
T | C | 86 | a0001c0002t0001g0006a0001c0002t0001g0022a0001c0002t0001g0023others(83): Show | 87 | HG00099.hp2 HG00733.hp1 HG00735.hp1 others(84): Show |
intron_variant | MODIFIER | c.2563+14103T>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66222349 | ||||||
chrX:66222436
|
G | T | 14 | a0001c0003t0001g0001a0001c0003t0001g0002a0001c0003t0001g0017others(11): Show | 15 | HG00735.hp1 HG01167.hp1 HG01169.hp2 others(12): Show |
intron_variant | MODIFIER | c.2563+14190G>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66222436 | ||||||
chrX:66222478
|
T | A | 47 | a0001c0002t0001g0006a0001c0002t0001g0022a0001c0002t0001g0023others(44): Show | 47 | HG00099.hp2 HG00733.hp1 HG00741.hp1 others(44): Show |
intron_variant | MODIFIER | c.2563+14232T>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66222478 | ||||||
chrX:66222494
|
T | C | 5 | a0001c0003t0002g0207a0001c0003t0002g0208a0001c0003t0002g0209others(2): Show | 5 | HG00738.hp1 HG01081.hp1 HG02647.hp1 others(2): Show |
intron_variant | MODIFIER | c.2563+14248T>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66222494 | ||||||
chrX:66222556
|
A | G | 29 | a0001c0003t0001g0001a0001c0003t0001g0002a0001c0003t0001g0017others(26): Show | 30 | HG00735.hp1 HG00738.hp1 HG01081.hp1 others(27): Show |
intron_variant | MODIFIER | c.2563+14310A>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66222556 | ||||||
chrX:66222657
|
G | A | 1 | a0001c0014t0002g0210 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.2563+14411G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66222657 | ||||||
chrX:66222659
|
G | A | 11 | a0001c0003t0001g0002a0001c0003t0001g0018a0001c0003t0001g0019others(8): Show | 11 | HG00735.hp1 HG01891.hp1 HG02258.hp1 others(8): Show |
intron_variant | MODIFIER | c.2563+14413G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66222659 | ||||||
chrX:66222991
|
C | T | 1 | a0001c0001t0001g0182 | 1 | HG04204.hp1 | intron_variant | MODIFIER | c.2563+14745C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66222991 | ||||||
chrX:66223266
|
G | A | 1 | a0001c0001t0001g0112 | 1 | HG02273.hp2 | intron_variant | MODIFIER | c.2563+15020G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66223266 | ||||||
chrX:66223296
|
T | C | 1 | a0001c0002t0002g0053 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.2563+15050T>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66223296 | ||||||
chrX:66223317
|
T | G | 3 | a0001c0003t0002g0207a0001c0003t0002g0208a0001c0003t0002g0209 | 3 | HG00738.hp1 HG01081.hp1 HG02647.hp1 |
intron_variant | MODIFIER | c.2563+15071T>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66223317 | ||||||
chrX:66223367
|
G | T | 2 | a0001c0001t0001g0105a0001c0001t0001g0128 | 2 | NA18966.hp1 NA19063.hp1 |
intron_variant | MODIFIER | c.2563+15121G>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66223367 | ||||||
chrX:66223453
|
A | G | 86 | a0001c0002t0001g0006a0001c0002t0001g0022a0001c0002t0001g0023others(83): Show | 87 | HG00099.hp2 HG00733.hp1 HG00735.hp1 others(84): Show |
intron_variant | MODIFIER | c.2563+15207A>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66223453 | ||||||
chrX:66223487
|
T | C | 6 | a0001c0001t0001g0171a0001c0001t0001g0172a0001c0001t0001g0173others(3): Show | 6 | HG02015.hp1 HG02074.hp1 HG02165.hp2 others(3): Show |
intron_variant | MODIFIER | c.2563+15241T>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66223487 | ||||||
chrX:66223493
|
C | T | 3 | a0001c0002t0001g0055a0001c0002t0001g0058a0001c0002t0002g0056 | 3 | HG00741.hp1 HG01192.hp1 HG01516.hp1 |
intron_variant | MODIFIER | c.2563+15247C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66223493 | ||||||
chrX:66223584
|
G | T | 1 | a0001c0001t0001g0138 | 1 | HG02056.hp1 | intron_variant | MODIFIER | c.2563+15338G>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66223584 | ||||||
chrX:66223683
|
A | AT | 1 | a0001c0001t0001g0123 | 1 | HG00621.hp1 | intron_variant | MODIFIER | c.2563+15445dupT | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chrX | 66223683 | |||||
chrX:66223731
|
AT | A | 2 | a0001c0001t0001g0084a0001c0002t0002g0009 | 2 | HG03195.hp2 NA19075.hp1 |
intron_variant | MODIFIER | c.2563+15493delT | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chrX | 66223731 | |||||
chrX:66223787
|
T | G | 1 | a0001c0003t0001g0021 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.2563+15541T>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66223787 | ||||||
chrX:66223846
|
TC | T | 1 | a0001c0001t0001g0105 | 1 | NA19063.hp1 | intron_variant | MODIFIER | c.2563+15602delC | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chrX | 66223846 | |||||
chrX:66223904
|
A | G | 11 | a0001c0003t0001g0002a0001c0003t0001g0018a0001c0003t0001g0019others(8): Show | 11 | HG00735.hp1 HG01891.hp1 HG02258.hp1 others(8): Show |
intron_variant | MODIFIER | c.2563+15658A>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66223904 | ||||||
chrX:66223937
|
C | T | 1 | a0001c0002t0002g0038 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.2563+15691C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66223937 | ||||||
chrX:66224086
|
C | CT | 4 | a0001c0001t0001g0102a0001c0001t0001g0109a0001c0001t0001g0141others(1): Show | 4 | HG01515.hp1 HG02738.hp1 NA18945.hp1 others(1): Show |
intron_variant | MODIFIER | c.2563+15854dupT | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chrX | 66224086 | |||||
chrX:66224086
|
CT | C | 75 | a0001c0001t0001g0139a0001c0002t0001g0022a0001c0002t0001g0023others(72): Show | 76 | HG00099.hp2 HG00733.hp1 HG00735.hp1 others(73): Show |
intron_variant | MODIFIER | c.2563+15854delT | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chrX | 66224086 | |||||
chrX:66224086
|
CTT | C | 5 | a0001c0002t0002g0039a0001c0002t0002g0040a0001c0002t0002g0041others(2): Show | 5 | HG01884.hp1 HG02257.hp2 HG02451.hp2 others(2): Show |
intron_variant | MODIFIER | c.2563+15853_2563+15 others(8): Show |
HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chrX | 66224086 | |||||
chrX:66224321
|
C | CT | 1 | a0001c0001t0001g0084 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.2563+16088dupT | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chrX | 66224321 | |||||
chrX:66224321
|
CT | C | 1 | a0001c0003t0002g0008 | 1 | HG00735.hp1 | intron_variant | MODIFIER | c.2563+16088delT | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chrX | 66224321 | |||||
chrX:66224409
|
G | T | 2 | a0001c0002t0001g0042a0001c0002t0001g0215 | 2 | HG02280.hp2 HG02886.hp2 |
intron_variant | MODIFIER | c.2563+16163G>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66224409 | ||||||
chrX:66224425
|
T | A | 1 | a0001c0001t0001g0146 | 1 | HG01943.hp1 | intron_variant | MODIFIER | c.2563+16179T>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66224425 | ||||||
chrX:66224429
|
T | A | 86 | a0001c0002t0001g0006a0001c0002t0001g0022a0001c0002t0001g0023others(83): Show | 87 | HG00099.hp2 HG00733.hp1 HG00735.hp1 others(84): Show |
intron_variant | MODIFIER | c.2563+16183T>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66224429 | ||||||
chrX:66224446
|
C | T | 1 | a0001c0001t0001g0123 | 1 | HG00621.hp1 | intron_variant | MODIFIER | c.2563+16200C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66224446 | ||||||
chrX:66224478
|
G | A | 1 | a0010c0015t0001g0078 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.2563+16232G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66224478 | ||||||
chrX:66224486
|
A | G | 4 | a0001c0003t0001g0027a0001c0003t0001g0028a0001c0003t0001g0029others(1): Show | 4 | HG02622.hp2 HG02922.hp1 HG03098.hp1 others(1): Show |
intron_variant | MODIFIER | c.2563+16240A>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66224486 | ||||||
chrX:66224488
|
C | T | 1 | a0001c0002t0002g0009 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.2563+16242C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66224488 | ||||||
chrX:66224570
|
C | CT | 1 | a0001c0001t0001g0182 | 1 | HG04204.hp1 | intron_variant | MODIFIER | c.2563+16330dupT | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chrX | 66224570 | |||||
chrX:66224598
|
C | T | 1 | a0001c0003t0002g0207 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.2563+16352C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66224598 | ||||||
chrX:66224619
|
G | A | 3 | a0001c0003t0002g0207a0001c0003t0002g0208a0001c0003t0002g0209 | 3 | HG00738.hp1 HG01081.hp1 HG02647.hp1 |
intron_variant | MODIFIER | c.2563+16373G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66224619 | ||||||
chrX:66224759
|
G | T | 1 | a0001c0001t0001g0181 | 1 | HG00140.hp1 | intron_variant | MODIFIER | c.2563+16513G>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66224759 | ||||||
chrX:66224798
|
CT | C | 1 | a0001c0001t0001g0084 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.2563+16561delT | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chrX | 66224798 | |||||
chrX:66224979
|
C | T | 5 | a0001c0003t0002g0012a0001c0003t0002g0016a0002c0004t0002g0013others(2): Show | 5 | HG01891.hp1 HG02717.hp1 HG02809.hp2 others(2): Show |
intron_variant | MODIFIER | c.2563+16733C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66224979 | ||||||
chrX:66225094
|
T | C | 1 | a0001c0002t0001g0055 | 1 | HG01192.hp1 | intron_variant | MODIFIER | c.2563+16848T>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66225094 | ||||||
chrX:66225391
|
G | A | 14 | a0001c0003t0001g0001a0001c0003t0001g0002a0001c0003t0001g0017others(11): Show | 15 | HG00735.hp1 HG01167.hp1 HG01169.hp2 others(12): Show |
intron_variant | MODIFIER | c.2563+17145G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66225391 | ||||||
chrX:66225398
|
CA | C | 1 | a0001c0001t0001g0084 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.2563+17156delA | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chrX | 66225398 | |||||
chrX:66225476
|
C | CA | 1 | a0001c0001t0001g0095 | 1 | HG01952.hp1 | intron_variant | MODIFIER | c.2563+17238dupA | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chrX | 66225476 | |||||
chrX:66225489
|
T | C | 57 | a0001c0002t0001g0006a0001c0002t0001g0022a0001c0002t0001g0023others(54): Show | 57 | HG00099.hp2 HG00733.hp1 HG00741.hp1 others(54): Show |
intron_variant | MODIFIER | c.2563+17243T>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66225489 | ||||||
chrX:66225615
|
G | A | 47 | a0001c0002t0001g0006a0001c0002t0001g0022a0001c0002t0001g0023others(44): Show | 47 | HG00099.hp2 HG00733.hp1 HG00741.hp1 others(44): Show |
intron_variant | MODIFIER | c.2563+17369G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66225615 | ||||||
chrX:66225647
|
G | T | 1 | a0001c0001t0001g0111 | 1 | NA20752.hp1 | intron_variant | MODIFIER | c.2563+17401G>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66225647 | ||||||
chrX:66225724
|
A | C | 3 | a0001c0003t0001g0080a0001c0003t0002g0081a0001c0010t0001g0079 | 3 | HG02615.hp2 HG03130.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.2563+17478A>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66225724 | ||||||
chrX:66225742
|
C | T | 1 | a0001c0001t0001g0162 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.2563+17496C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66225742 | ||||||
chrX:66225790
|
GC | G | 1 | a0001c0001t0001g0084 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.2563+17546delC | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chrX | 66225790 | |||||
chrX:66225799
|
A | G | 86 | a0001c0002t0001g0006a0001c0002t0001g0022a0001c0002t0001g0023others(83): Show | 87 | HG00099.hp2 HG00733.hp1 HG00735.hp1 others(84): Show |
intron_variant | MODIFIER | c.2563+17553A>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66225799 | ||||||
chrX:66226131
|
T | C | 3 | a0001c0003t0001g0027a0001c0003t0001g0028a0001c0003t0001g0029 | 3 | HG02622.hp2 HG02922.hp1 HG03098.hp1 |
intron_variant | MODIFIER | c.2563+17885T>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66226131 | ||||||
chrX:66226179
|
C | T | 1 | a0001c0001t0001g0107 | 1 | NA19056.hp1 | intron_variant | MODIFIER | c.2563+17933C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66226179 | ||||||
chrX:66226194
|
C | T | 1 | a0001c0001t0001g0195 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.2563+17948C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66226194 | ||||||
chrX:66226372
|
G | A | 1 | a0001c0001t0001g0108 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.2563+18126G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66226372 | ||||||
chrX:66226384
|
A | C | 1 | a0010c0015t0001g0078 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.2563+18138A>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66226384 | ||||||
chrX:66226457
|
A | G | 57 | a0001c0002t0001g0006a0001c0002t0001g0022a0001c0002t0001g0023others(54): Show | 57 | HG00099.hp2 HG00733.hp1 HG00741.hp1 others(54): Show |
intron_variant | MODIFIER | c.2563+18211A>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66226457 | ||||||
chrX:66226659
|
A | G | 1 | a0001c0001t0001g0096 | 1 | NA19004.hp1 | intron_variant | MODIFIER | c.2563+18413A>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66226659 | ||||||
chrX:66226825
|
C | T | 3 | a0001c0001t0001g0089a0001c0001t0001g0090a0001c0001t0002g0091 | 3 | HG00673.hp1 HG02165.hp1 NA19005.hp1 |
intron_variant | MODIFIER | c.2563+18579C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66226825 | ||||||
chrX:66226854
|
T | C | 1 | a0001c0002t0001g0055 | 1 | HG01192.hp1 | intron_variant | MODIFIER | c.2563+18608T>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66226854 | ||||||
chrX:66227095
|
G | C | 1 | a0001c0001t0001g0115 | 1 | NA18612.hp1 | intron_variant | MODIFIER | c.2563+18849G>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66227095 | ||||||
chrX:66227189
|
T | A | 2 | a0003c0007t0001g0165a0003c0007t0001g0166 | 2 | NA18984.hp1 NA19009.hp1 |
intron_variant | MODIFIER | c.2563+18943T>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66227189 | ||||||
chrX:66227465
|
G | A | 5 | a0001c0003t0002g0012a0001c0003t0002g0016a0002c0004t0002g0013others(2): Show | 5 | HG01891.hp1 HG02717.hp1 HG02809.hp2 others(2): Show |
intron_variant | MODIFIER | c.2563+19219G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66227465 | ||||||
chrX:66227497
|
G | A | 2 | a0001c0001t0001g0116a0001c0001t0001g0117 | 2 | HG00609.hp1 NA19058.hp1 |
intron_variant | MODIFIER | c.2563+19251G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66227497 | ||||||
chrX:66227676
|
T | C | 1 | a0001c0001t0001g0191 | 1 | HG03710.hp1 | intron_variant | MODIFIER | c.2563+19430T>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66227676 | ||||||
chrX:66227759
|
C | CT | 1 | a0001c0001t0001g0139 | 1 | NA19076.hp1 | intron_variant | MODIFIER | c.2563+19520dupT | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chrX | 66227759 | |||||
chrX:66227968
|
G | T | 1 | a0001c0001t0001g0130 | 1 | NA18948.hp1 | intron_variant | MODIFIER | c.2563+19722G>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66227968 | ||||||
chrX:66228185
|
G | A | 1 | a0001c0003t0001g0030 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.2563+19939G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66228185 | ||||||
chrX:66228258
|
C | G | 57 | a0001c0002t0001g0006a0001c0002t0001g0022a0001c0002t0001g0023others(54): Show | 57 | HG00099.hp2 HG00733.hp1 HG00741.hp1 others(54): Show |
intron_variant | MODIFIER | c.2563+20012C>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66228258 | ||||||
chrX:66228358
|
G | A | 4 | a0001c0003t0001g0027a0001c0003t0001g0028a0001c0003t0001g0029others(1): Show | 4 | HG02622.hp2 HG02922.hp1 HG03098.hp1 others(1): Show |
intron_variant | MODIFIER | c.2563+20112G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66228358 | ||||||
chrX:66228668
|
TCAAA | T | 4 | a0001c0003t0001g0027a0001c0003t0001g0028a0001c0003t0001g0029others(1): Show | 4 | HG02622.hp2 HG02922.hp1 HG03098.hp1 others(1): Show |
intron_variant | MODIFIER | c.2563+20427_2563+20 others(10): Show |
HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chrX | 66228668 | |||||
chrX:66228867
|
TA | T | 5 | a0001c0003t0001g0018a0001c0003t0001g0019a0001c0003t0001g0020others(2): Show | 5 | HG00735.hp1 HG02258.hp1 HG02451.hp1 others(2): Show |
intron_variant | MODIFIER | c.2563+20629delA | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chrX | 66228867 | |||||
chrX:66228883
|
A | G | 86 | a0001c0002t0001g0006a0001c0002t0001g0022a0001c0002t0001g0023others(83): Show | 87 | HG00099.hp2 HG00733.hp1 HG00735.hp1 others(84): Show |
intron_variant | MODIFIER | c.2563+20637A>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66228883 | ||||||
chrX:66228890
|
C | T | 1 | a0001c0001t0001g0181 | 1 | HG00140.hp1 | intron_variant | MODIFIER | c.2563+20644C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66228890 | ||||||
chrX:66228902
|
G | T | 1 | a0001c0003t0001g0025 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.2563+20656G>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66228902 | ||||||
chrX:66229202
|
A | G | 3 | a0001c0002t0001g0055a0001c0002t0001g0058a0001c0002t0002g0056 | 3 | HG00741.hp1 HG01192.hp1 HG01516.hp1 |
intron_variant | MODIFIER | c.2563+20956A>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66229202 | ||||||
chrX:66229210
|
A | G | 1 | a0001c0001t0001g0191 | 1 | HG03710.hp1 | intron_variant | MODIFIER | c.2563+20964A>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66229210 | ||||||
chrX:66229364
|
T | C | 86 | a0001c0002t0001g0006a0001c0002t0001g0022a0001c0002t0001g0023others(83): Show | 87 | HG00099.hp2 HG00733.hp1 HG00735.hp1 others(84): Show |
intron_variant | MODIFIER | c.2563+21118T>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66229364 | ||||||
chrX:66229423
|
T | A | 1 | a0001c0002t0002g0068 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.2563+21177T>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66229423 | ||||||
chrX:66229457
|
G | A | 1 | a0001c0002t0001g0057 | 1 | HG01081.hp2 | intron_variant | MODIFIER | c.2563+21211G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66229457 | ||||||
chrX:66229625
|
C | T | 3 | a0001c0003t0001g0018a0001c0003t0001g0019a0001c0003t0001g0020 | 3 | HG02258.hp1 HG02451.hp1 HG02976.hp2 |
intron_variant | MODIFIER | c.2563+21379C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66229625 | ||||||
chrX:66229667
|
A | G | 1 | a0001c0001t0001g0110 | 1 | NA18955.hp1 | intron_variant | MODIFIER | c.2563+21421A>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66229667 | ||||||
chrX:66229693
|
A | T | 4 | a0001c0002t0002g0036a0001c0002t0002g0037a0001c0002t0003g0031others(1): Show | 4 | HG02280.hp1 HG02922.hp2 HG03209.hp1 others(1): Show |
intron_variant | MODIFIER | c.2563+21447A>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66229693 | ||||||
chrX:66229768
|
C | CT | 1 | a0001c0002t0002g0051 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.2563+21531dupT | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chrX | 66229768 | |||||
chrX:66229768
|
CT | C | 1 | a0001c0001t0001g0149 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.2563+21531delT | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chrX | 66229768 | |||||
chrX:66229773
|
T | G | 1 | a0001c0002t0002g0047 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.2563+21527T>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66229773 | ||||||
chrX:66229897
|
G | C | 1 | a0010c0015t0001g0078 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.2563+21651G>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66229897 | ||||||
chrX:66229919
|
T | TC | 1 | a0001c0003t0002g0207 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.2563+21679dupC | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chrX | 66229919 | |||||
chrX:66229926
|
T | TC | 4 | a0001c0002t0002g0046a0001c0002t0002g0059a0005c0006t0001g0083others(1): Show | 4 | HG01255.hp1 HG02809.hp1 HG04199.hp1 others(1): Show |
intron_variant | MODIFIER | c.2563+21686dupC | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chrX | 66229926 | |||||
chrX:66229932
|
C | G | 1 | a0001c0001t0001g0154 | 1 | HG00642.hp1 | intron_variant | MODIFIER | c.2563+21686C>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66229932 | ||||||
chrX:66229953
|
G | A | 5 | a0001c0001t0001g0160a0001c0001t0001g0161a0001c0001t0001g0162others(2): Show | 5 | HG00639.hp1 HG01257.hp2 HG01258.hp1 others(2): Show |
intron_variant | MODIFIER | c.2563+21707G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66229953 | ||||||
chrX:66230021
|
T | A | 1 | a0001c0001t0001g0204 | 1 | HG02602.hp1 | intron_variant | MODIFIER | c.2563+21775T>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66230021 | ||||||
chrX:66230180
|
G | T | 2 | a0001c0002t0001g0006a0001c0002t0001g0057 | 2 | HG01081.hp2 HG01358.hp1 |
intron_variant | MODIFIER | c.2563+21934G>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66230180 | ||||||
chrX:66230272
|
G | C | 2 | a0001c0002t0001g0042a0001c0002t0001g0215 | 2 | HG02280.hp2 HG02886.hp2 |
intron_variant | MODIFIER | c.2563+22026G>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66230272 | ||||||
chrX:66230275
|
A | C | 3 | a0001c0003t0001g0018a0001c0003t0001g0019a0001c0003t0001g0020 | 3 | HG02258.hp1 HG02451.hp1 HG02976.hp2 |
intron_variant | MODIFIER | c.2563+22029A>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66230275 | ||||||
chrX:66230310
|
C | T | 1 | a0001c0001t0001g0090 | 1 | HG02165.hp1 | intron_variant | MODIFIER | c.2563+22064C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66230310 | ||||||
chrX:66230331
|
T | G | 29 | a0001c0003t0001g0001a0001c0003t0001g0002a0001c0003t0001g0017others(26): Show | 30 | HG00735.hp1 HG00738.hp1 HG01081.hp1 others(27): Show |
intron_variant | MODIFIER | c.2563+22085T>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66230331 | ||||||
chrX:66230370
|
G | C | 86 | a0001c0002t0001g0006a0001c0002t0001g0022a0001c0002t0001g0023others(83): Show | 87 | HG00099.hp2 HG00733.hp1 HG00735.hp1 others(84): Show |
intron_variant | MODIFIER | c.2563+22124G>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66230370 | ||||||
chrX:66230401
|
G | A | 7 | a0001c0003t0001g0025a0001c0003t0001g0027a0001c0003t0001g0028others(4): Show | 7 | HG02055.hp1 HG02109.hp2 HG02622.hp2 others(4): Show |
intron_variant | MODIFIER | c.2563+22155G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66230401 | ||||||
chrX:66230454
|
G | T | 1 | a0001c0003t0001g0080 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.2563+22208G>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66230454 | ||||||
chrX:66230485
|
G | A | 1 | a0001c0001t0001g0138 | 1 | HG02056.hp1 | intron_variant | MODIFIER | c.2563+22239G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66230485 | ||||||
chrX:66230551
|
T | G | 3 | a0001c0001t0001g0132a0001c0001t0001g0133a0001c0001t0001g0146 | 3 | HG01943.hp1 HG01978.hp1 HG02004.hp1 |
intron_variant | MODIFIER | c.2563+22305T>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66230551 | ||||||
chrX:66230560
|
T | A | 57 | a0001c0002t0001g0006a0001c0002t0001g0022a0001c0002t0001g0023others(54): Show | 57 | HG00099.hp2 HG00733.hp1 HG00741.hp1 others(54): Show |
intron_variant | MODIFIER | c.2563+22314T>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66230560 | ||||||
chrX:66230564
|
T | A | 14 | a0001c0003t0001g0001a0001c0003t0001g0002a0001c0003t0001g0017others(11): Show | 15 | HG00735.hp1 HG01167.hp1 HG01169.hp2 others(12): Show |
intron_variant | MODIFIER | c.2563+22318T>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66230564 | ||||||
chrX:66230569
|
G | A | 7 | a0001c0003t0001g0025a0001c0003t0001g0027a0001c0003t0001g0028others(4): Show | 7 | HG02055.hp1 HG02109.hp2 HG02622.hp2 others(4): Show |
intron_variant | MODIFIER | c.2563+22323G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66230569 | ||||||
chrX:66230583
|
A | C | 1 | a0010c0015t0001g0078 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.2563+22337A>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66230583 | ||||||
chrX:66230602
|
C | T | 1 | a0001c0001t0001g0133 | 1 | HG01978.hp1 | intron_variant | MODIFIER | c.2563+22356C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66230602 | ||||||
chrX:66230701
|
G | A | 30 | a0001c0002t0002g0032a0001c0003t0001g0001a0001c0003t0001g0002others(27): Show | 31 | HG00735.hp1 HG00738.hp1 HG01081.hp1 others(28): Show |
intron_variant | MODIFIER | c.2563+22455G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66230701 | ||||||
chrX:66230773
|
G | T | 1 | a0001c0001t0001g0099 | 1 | HG02083.hp1 | intron_variant | MODIFIER | c.2563+22527G>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66230773 | ||||||
chrX:66230924
|
T | A | 1 | a0001c0014t0002g0210 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.2563+22678T>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66230924 | ||||||
chrX:66230930
|
A | C | 1 | a0001c0003t0002g0016 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.2563+22684A>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66230930 | ||||||
chrX:66230988
|
T | G | 7 | a0001c0002t0002g0061a0001c0002t0002g0062a0001c0002t0002g0063others(4): Show | 7 | HG01169.hp1 HG01496.hp2 HG01928.hp1 others(4): Show |
intron_variant | MODIFIER | c.2563+22742T>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66230988 | ||||||
chrX:66230991
|
A | C | 14 | a0001c0003t0001g0001a0001c0003t0001g0002a0001c0003t0001g0017others(11): Show | 15 | HG00735.hp1 HG01167.hp1 HG01169.hp2 others(12): Show |
intron_variant | MODIFIER | c.2563+22745A>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66230991 | ||||||
chrX:66231000
|
G | T | 1 | a0010c0015t0001g0078 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.2563+22754G>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66231000 | ||||||
chrX:66231052
|
G | A | 4 | a0001c0003t0002g0207a0001c0003t0002g0208a0001c0003t0002g0209others(1): Show | 4 | HG00738.hp1 HG01081.hp1 HG02647.hp1 others(1): Show |
intron_variant | MODIFIER | c.2563+22806G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66231052 | ||||||
chrX:66231058
|
C | G | 2 | a0001c0001t0001g0138a0001c0002t0002g0038 | 2 | HG02056.hp1 HG02886.hp1 |
intron_variant | MODIFIER | c.2563+22812C>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66231058 | ||||||
chrX:66231064
|
T | C | 2 | a0001c0001t0001g0186a0001c0001t0001g0194 | 2 | NA19066.hp1 NA19068.hp1 |
intron_variant | MODIFIER | c.2563+22818T>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66231064 | ||||||
chrX:66231085
|
G | A | 1 | a0001c0001t0001g0173 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.2563+22839G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66231085 | ||||||
chrX:66231112
|
C | A | 1 | a0001c0001t0001g0111 | 1 | NA20752.hp1 | intron_variant | MODIFIER | c.2563+22866C>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66231112 | ||||||
chrX:66231128
|
T | G | 19 | a0001c0001t0001g0085a0001c0001t0001g0086a0001c0001t0001g0093others(16): Show | 19 | HG00597.hp1 HG02040.hp1 HG02071.hp1 others(16): Show |
intron_variant | MODIFIER | c.2563+22882T>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66231128 | ||||||
chrX:66231130
|
A | G | 19 | a0001c0001t0001g0085a0001c0001t0001g0086a0001c0001t0001g0093others(16): Show | 19 | HG00597.hp1 HG02040.hp1 HG02071.hp1 others(16): Show |
intron_variant | MODIFIER | c.2563+22884A>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66231130 | ||||||
chrX:66231203
|
G | A | 1 | a0001c0003t0001g0077 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.2563+22957G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66231203 | ||||||
chrX:66231257
|
C | T | 1 | a0001c0003t0001g0017 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.2563+23011C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66231257 | ||||||
chrX:66231261
|
C | G | 3 | a0001c0003t0001g0018a0001c0003t0001g0019a0001c0003t0001g0020 | 3 | HG02258.hp1 HG02451.hp1 HG02976.hp2 |
intron_variant | MODIFIER | c.2563+23015C>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66231261 | ||||||
chrX:66231287
|
G | A | 5 | a0001c0001t0001g0187a0001c0003t0001g0027a0001c0003t0001g0028others(2): Show | 5 | HG02622.hp2 HG02922.hp1 HG03098.hp1 others(2): Show |
intron_variant | MODIFIER | c.2563+23041G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66231287 | ||||||
chrX:66231350
|
C | T | 5 | a0001c0002t0002g0071a0001c0002t0002g0072a0001c0002t0002g0073others(2): Show | 5 | HG02965.hp1 HG03139.hp1 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.2563+23104C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66231350 | ||||||
chrX:66231402
|
C | G | 1 | a0001c0002t0002g0010 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.2563+23156C>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66231402 | ||||||
chrX:66231430
|
G | C | 1 | a0001c0001t0001g0182 | 1 | HG04204.hp1 | intron_variant | MODIFIER | c.2563+23184G>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66231430 | ||||||
chrX:66231558
|
T | C | 2 | a0003c0007t0001g0165a0003c0007t0001g0166 | 2 | NA18984.hp1 NA19009.hp1 |
intron_variant | MODIFIER | c.2563+23312T>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66231558 | ||||||
chrX:66231603
|
T | A | 1 | a0004c0005t0001g0185 | 1 | NA19055.hp1 | intron_variant | MODIFIER | c.2563+23357T>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66231603 | ||||||
chrX:66231603
|
T | C | 2 | a0003c0007t0001g0165a0003c0007t0001g0166 | 2 | NA18984.hp1 NA19009.hp1 |
intron_variant | MODIFIER | c.2563+23357T>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66231603 | ||||||
chrX:66231639
|
C | T | 1 | a0001c0014t0002g0210 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.2563+23393C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66231639 | ||||||
chrX:66231731
|
A | C | 12 | a0001c0001t0001g0111a0001c0001t0001g0132a0001c0001t0001g0133others(9): Show | 12 | HG00280.hp1 HG00733.hp2 HG01070.hp2 others(9): Show |
intron_variant | MODIFIER | c.2564-23304A>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66231731 | ||||||
chrX:66231826
|
T | C | 1 | a0001c0002t0002g0046 | 1 | HG01255.hp1 | intron_variant | MODIFIER | c.2564-23209T>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66231826 | ||||||
chrX:66231871
|
T | A | 2 | a0001c0001t0001g0113a0001c0001t0001g0114 | 2 | HG02615.hp1 HG03041.hp2 |
intron_variant | MODIFIER | c.2564-23164T>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66231871 | ||||||
chrX:66231879
|
G | GT | 1 | a0001c0001t0001g0093 | 1 | NA19089.hp1 | intron_variant | MODIFIER | c.2564-23150dupT | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chrX | 66231879 | |||||
chrX:66231912
|
A | G | 86 | a0001c0002t0001g0006a0001c0002t0001g0022a0001c0002t0001g0023others(83): Show | 87 | HG00099.hp2 HG00733.hp1 HG00735.hp1 others(84): Show |
intron_variant | MODIFIER | c.2564-23123A>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66231912 | ||||||
chrX:66231921
|
A | T | 1 | a0001c0003t0001g0002 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.2564-23114A>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66231921 | ||||||
chrX:66232078
|
A | G | 1 | a0001c0003t0001g0021 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.2564-22957A>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66232078 | ||||||
chrX:66232092
|
A | G | 4 | a0001c0003t0002g0207a0001c0003t0002g0208a0001c0003t0002g0209others(1): Show | 4 | HG00738.hp1 HG01081.hp1 HG02647.hp1 others(1): Show |
intron_variant | MODIFIER | c.2564-22943A>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66232092 | ||||||
chrX:66232140
|
G | T | 4 | a0001c0001t0001g0192a0001c0001t0001g0199a0001c0001t0001g0205others(1): Show | 4 | HG02735.hp1 HG03490.hp1 HG03688.hp1 others(1): Show |
intron_variant | MODIFIER | c.2564-22895G>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66232140 | ||||||
chrX:66232141
|
G | T | 1 | a0010c0015t0001g0078 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.2564-22894G>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66232141 | ||||||
chrX:66232230
|
T | TA | 1 | a0001c0001t0001g0093 | 1 | NA19089.hp1 | intron_variant | MODIFIER | c.2564-22801dupA | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chrX | 66232230 | |||||
chrX:66232237
|
C | A | 2 | a0001c0003t0001g0027a0001c0003t0001g0028 | 2 | HG02622.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.2564-22798C>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66232237 | ||||||
chrX:66232261
|
C | T | 14 | a0001c0003t0001g0001a0001c0003t0001g0002a0001c0003t0001g0017others(11): Show | 15 | HG00735.hp1 HG01167.hp1 HG01169.hp2 others(12): Show |
intron_variant | MODIFIER | c.2564-22774C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66232261 | ||||||
chrX:66232296
|
A | G | 17 | a0001c0002t0001g0045a0001c0002t0002g0043a0001c0002t0002g0044others(14): Show | 17 | HG01255.hp1 HG02109.hp1 HG02145.hp1 others(14): Show |
intron_variant | MODIFIER | c.2564-22739A>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66232296 | ||||||
chrX:66232303
|
A | T | 1 | a0001c0002t0002g0051 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.2564-22732A>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66232303 | ||||||
chrX:66232370
|
C | A | 1 | a0001c0001t0001g0093 | 1 | NA19089.hp1 | intron_variant | MODIFIER | c.2564-22665C>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66232370 | ||||||
chrX:66232444
|
A | C | 2 | a0001c0003t0001g0080a0001c0003t0002g0081 | 2 | HG03130.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.2564-22591A>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66232444 | ||||||
chrX:66232516
|
A | AT | 1 | a0001c0001t0001g0093 | 1 | NA19089.hp1 | intron_variant | MODIFIER | c.2564-22518dupT | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chrX | 66232516 | |||||
chrX:66232621
|
C | T | 3 | a0001c0003t0002g0207a0001c0003t0002g0208a0001c0003t0002g0209 | 3 | HG00738.hp1 HG01081.hp1 HG02647.hp1 |
intron_variant | MODIFIER | c.2564-22414C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66232621 | ||||||
chrX:66232715
|
A | G | 1 | a0001c0003t0002g0026 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.2564-22320A>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66232715 | ||||||
chrX:66232820
|
A | AT | 1 | a0001c0001t0001g0093 | 1 | NA19089.hp1 | intron_variant | MODIFIER | c.2564-22212dupT | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chrX | 66232820 | |||||
chrX:66232820
|
A | G | 1 | a0001c0002t0002g0010 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.2564-22215A>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66232820 | ||||||
chrX:66232825
|
C | CT | 1 | a0001c0001t0001g0093 | 1 | NA19089.hp1 | intron_variant | MODIFIER | c.2564-22203dupT | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chrX | 66232825 | |||||
chrX:66232953
|
C | T | 85 | a0001c0002t0001g0006a0001c0002t0001g0022a0001c0002t0001g0023others(82): Show | 86 | HG00099.hp2 HG00733.hp1 HG00735.hp1 others(83): Show |
intron_variant | MODIFIER | c.2564-22082C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66232953 | ||||||
chrX:66233012
|
C | CA | 1 | a0001c0001t0001g0093 | 1 | NA19089.hp1 | intron_variant | MODIFIER | c.2564-22017dupA | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chrX | 66233012 | |||||
chrX:66233053
|
CA | C | 4 | a0001c0003t0002g0207a0001c0003t0002g0208a0001c0003t0002g0209others(1): Show | 4 | HG00738.hp1 HG01081.hp1 HG02647.hp1 others(1): Show |
intron_variant | MODIFIER | c.2564-21976delA | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chrX | 66233053 | |||||
chrX:66233059
|
A | T | 4 | a0001c0003t0002g0207a0001c0003t0002g0208a0001c0003t0002g0209others(1): Show | 4 | HG00738.hp1 HG01081.hp1 HG02647.hp1 others(1): Show |
intron_variant | MODIFIER | c.2564-21976A>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66233059 | ||||||
chrX:66233272
|
A | AG | 1 | a0001c0001t0001g0093 | 1 | NA19089.hp1 | intron_variant | MODIFIER | c.2564-21761dupG | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chrX | 66233272 | |||||
chrX:66233484
|
CT | C | 1 | a0001c0001t0001g0093 | 1 | NA19089.hp1 | intron_variant | MODIFIER | c.2564-21548delT | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chrX | 66233484 | |||||
chrX:66233504
|
G | A | 4 | a0001c0002t0002g0071a0001c0002t0002g0072a0001c0002t0002g0073others(1): Show | 4 | HG02965.hp1 HG03139.hp1 HG03195.hp1 others(1): Show |
intron_variant | MODIFIER | c.2564-21531G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66233504 | ||||||
chrX:66233552
|
GC | G | 1 | a0001c0001t0001g0093 | 1 | NA19089.hp1 | intron_variant | MODIFIER | c.2564-21480delC | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chrX | 66233552 | |||||
chrX:66233611
|
T | TA | 4 | a0001c0003t0001g0027a0001c0003t0001g0028a0001c0003t0001g0029others(1): Show | 4 | HG02622.hp2 HG02922.hp1 HG03098.hp1 others(1): Show |
intron_variant | MODIFIER | c.2564-21417dupA | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chrX | 66233611 | |||||
chrX:66233619
|
T | A | 1 | a0001c0001t0001g0093 | 1 | NA19089.hp1 | intron_variant | MODIFIER | c.2564-21416T>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66233619 | ||||||
chrX:66233914
|
AT | A | 1 | a0001c0001t0001g0093 | 1 | NA19089.hp1 | intron_variant | MODIFIER | c.2564-21115delT | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chrX | 66233914 | |||||
chrX:66234080
|
A | G | 86 | a0001c0002t0001g0006a0001c0002t0001g0022a0001c0002t0001g0023others(83): Show | 87 | HG00099.hp2 HG00733.hp1 HG00735.hp1 others(84): Show |
intron_variant | MODIFIER | c.2564-20955A>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66234080 | ||||||
chrX:66234203
|
C | T | 2 | a0001c0001t0001g0192a0001c0001t0001g0206 | 2 | HG02735.hp1 HG03688.hp1 |
intron_variant | MODIFIER | c.2564-20832C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66234203 | ||||||
chrX:66234295
|
T | TA | 3 | a0001c0003t0001g0025a0001c0003t0001g0077a0001c0003t0002g0026 | 3 | HG02055.hp1 HG02109.hp2 HG03041.hp1 |
intron_variant | MODIFIER | c.2564-20729dupA | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chrX | 66234295 | |||||
chrX:66234295
|
TA | T | 2 | a0001c0001t0001g0107a0001c0001t0001g0198 | 2 | NA19056.hp1 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.2564-20729delA | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chrX | 66234295 | |||||
chrX:66234296
|
A | T | 8 | a0001c0001t0001g0003a0001c0001t0001g0199a0001c0001t0001g0205others(5): Show | 9 | HG01167.hp1 HG01169.hp2 HG01243.hp1 others(6): Show |
intron_variant | MODIFIER | c.2564-20739A>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66234296 | ||||||
chrX:66234349
|
T | G | 3 | a0001c0003t0002g0207a0001c0003t0002g0208a0001c0003t0002g0209 | 3 | HG00738.hp1 HG01081.hp1 HG02647.hp1 |
intron_variant | MODIFIER | c.2564-20686T>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66234349 | ||||||
chrX:66234452
|
G | T | 1 | a0001c0003t0002g0207 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.2564-20583G>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66234452 | ||||||
chrX:66234491
|
T | TA | 1 | a0001c0001t0001g0093 | 1 | NA19089.hp1 | intron_variant | MODIFIER | c.2564-20543dupA | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chrX | 66234491 | |||||
chrX:66234525
|
TC | T | 1 | a0001c0001t0001g0093 | 1 | NA19089.hp1 | intron_variant | MODIFIER | c.2564-20507delC | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chrX | 66234525 | |||||
chrX:66234551
|
CT | C | 1 | a0001c0001t0001g0093 | 1 | NA19089.hp1 | intron_variant | MODIFIER | c.2564-20480delT | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chrX | 66234551 | |||||
chrX:66234579
|
G | GT | 9 | a0001c0001t0001g0114a0001c0001t0001g0171a0001c0001t0001g0172others(6): Show | 10 | HG00735.hp1 HG01167.hp1 HG01169.hp2 others(7): Show |
intron_variant | MODIFIER | c.2564-20445dupT | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chrX | 66234579 | |||||
chrX:66234579
|
G | T | 1 | a0001c0001t0001g0146 | 1 | HG01943.hp1 | intron_variant | MODIFIER | c.2564-20456G>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66234579 | ||||||
chrX:66234579
|
GT | G | 10 | a0001c0002t0001g0022a0001c0002t0001g0023a0001c0002t0001g0214others(7): Show | 10 | HG00738.hp1 HG01081.hp1 HG02630.hp1 others(7): Show |
intron_variant | MODIFIER | c.2564-20445delT | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chrX | 66234579 | |||||
chrX:66234643
|
A | AT | 22 | a0001c0002t0001g0006a0001c0002t0001g0055a0001c0002t0001g0057others(19): Show | 22 | HG00099.hp2 HG00733.hp1 HG00741.hp1 others(19): Show |
intron_variant | MODIFIER | c.2564-20380dupT | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chrX | 66234643 | |||||
chrX:66234643
|
AT | A | 2 | a0001c0003t0001g0080a0001c0003t0002g0081 | 2 | HG03130.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.2564-20380delT | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chrX | 66234643 | |||||
chrX:66234787
|
C | A | 57 | a0001c0002t0001g0006a0001c0002t0001g0022a0001c0002t0001g0023others(54): Show | 57 | HG00099.hp2 HG00733.hp1 HG00741.hp1 others(54): Show |
intron_variant | MODIFIER | c.2564-20248C>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66234787 | ||||||
chrX:66234838
|
G | A | 1 | a0001c0001t0001g0099 | 1 | HG02083.hp1 | intron_variant | MODIFIER | c.2564-20197G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66234838 | ||||||
chrX:66234929
|
G | T | 4 | a0001c0003t0002g0207a0001c0003t0002g0208a0001c0003t0002g0209others(1): Show | 4 | HG00738.hp1 HG01081.hp1 HG02647.hp1 others(1): Show |
intron_variant | MODIFIER | c.2564-20106G>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66234929 | ||||||
chrX:66234957
|
G | GT | 2 | a0001c0001t0001g0084a0001c0002t0002g0035 | 2 | HG02257.hp1 NA19075.hp1 |
intron_variant | MODIFIER | c.2564-20068dupT | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chrX | 66234957 | |||||
chrX:66235041
|
TG | T | 1 | a0001c0001t0001g0093 | 1 | NA19089.hp1 | intron_variant | MODIFIER | c.2564-19990delG | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chrX | 66235041 | |||||
chrX:66235109
|
A | G | 1 | a0001c0001t0001g0180 | 1 | HG01257.hp1 | intron_variant | MODIFIER | c.2564-19926A>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66235109 | ||||||
chrX:66235126
|
CT | C | 1 | a0001c0001t0001g0093 | 1 | NA19089.hp1 | intron_variant | MODIFIER | c.2564-19903delT | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chrX | 66235126 | |||||
chrX:66235246
|
G | GT | 1 | a0001c0001t0001g0093 | 1 | NA19089.hp1 | intron_variant | MODIFIER | c.2564-19788dupT | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chrX | 66235246 | |||||
chrX:66235253
|
C | T | 1 | a0001c0001t0001g0205 | 1 | HG03942.hp1 | intron_variant | MODIFIER | c.2564-19782C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66235253 | ||||||
chrX:66235292
|
A | G | 3 | a0001c0003t0001g0080a0001c0003t0002g0081a0001c0010t0001g0079 | 3 | HG02615.hp2 HG03130.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.2564-19743A>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66235292 | ||||||
chrX:66235314
|
A | AT | 1 | a0001c0001t0001g0093 | 1 | NA19089.hp1 | intron_variant | MODIFIER | c.2564-19716dupT | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chrX | 66235314 | |||||
chrX:66235380
|
G | A | 4 | a0001c0003t0002g0207a0001c0003t0002g0208a0001c0003t0002g0209others(1): Show | 4 | HG00738.hp1 HG01081.hp1 HG02647.hp1 others(1): Show |
intron_variant | MODIFIER | c.2564-19655G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66235380 | ||||||
chrX:66235382
|
A | G | 1 | a0001c0001t0001g0175 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.2564-19653A>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66235382 | ||||||
chrX:66235490
|
CT | C | 57 | a0001c0002t0001g0006a0001c0002t0001g0022a0001c0002t0001g0023others(54): Show | 57 | HG00099.hp2 HG00733.hp1 HG00741.hp1 others(54): Show |
intron_variant | MODIFIER | c.2564-19542delT | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chrX | 66235490 | |||||
chrX:66235524
|
C | T | 3 | a0001c0003t0001g0001a0001c0003t0001g0017a0001c0003t0001g0021 | 4 | HG01167.hp1 HG01169.hp2 HG02622.hp1 others(1): Show |
intron_variant | MODIFIER | c.2564-19511C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66235524 | ||||||
chrX:66235909
|
C | T | 1 | a0001c0002t0002g0009 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.2564-19126C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66235909 | ||||||
chrX:66236047
|
C | T | 1 | a0001c0002t0001g0006 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.2564-18988C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66236047 | ||||||
chrX:66236074
|
C | G | 1 | a0001c0001t0001g0111 | 1 | NA20752.hp1 | intron_variant | MODIFIER | c.2564-18961C>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66236074 | ||||||
chrX:66236078
|
T | TC | 1 | a0001c0001t0001g0093 | 1 | NA19089.hp1 | intron_variant | MODIFIER | c.2564-18955dupC | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chrX | 66236078 | |||||
chrX:66236178
|
C | CT | 1 | a0001c0001t0001g0093 | 1 | NA19089.hp1 | intron_variant | MODIFIER | c.2564-18856dupT | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chrX | 66236178 | |||||
chrX:66236180
|
C | T | 1 | a0001c0001t0001g0176 | 1 | NA19088.hp1 | intron_variant | MODIFIER | c.2564-18855C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66236180 | ||||||
chrX:66236181
|
G | A | 2 | a0001c0002t0002g0039a0001c0002t0002g0040 | 2 | HG02257.hp2 HG02451.hp2 |
intron_variant | MODIFIER | c.2564-18854G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66236181 | ||||||
chrX:66236194
|
A | AG | 1 | a0001c0001t0001g0093 | 1 | NA19089.hp1 | intron_variant | MODIFIER | c.2564-18838dupG | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chrX | 66236194 | |||||
chrX:66236324
|
G | A | 1 | a0001c0001t0001g0176 | 1 | NA19088.hp1 | intron_variant | MODIFIER | c.2564-18711G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66236324 | ||||||
chrX:66236351
|
TC | T | 1 | a0001c0001t0001g0093 | 1 | NA19089.hp1 | intron_variant | MODIFIER | c.2564-18682delC | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chrX | 66236351 | |||||
chrX:66236393
|
T | A | 1 | a0001c0003t0001g0029 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.2564-18642T>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66236393 | ||||||
chrX:66236449
|
TC | T | 1 | a0001c0001t0001g0093 | 1 | NA19089.hp1 | intron_variant | MODIFIER | c.2564-18583delC | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chrX | 66236449 | |||||
chrX:66236461
|
A | G | 1 | a0001c0003t0002g0081 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.2564-18574A>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66236461 | ||||||
chrX:66236534
|
A | T | 1 | a0001c0001t0001g0093 | 1 | NA19089.hp1 | intron_variant | MODIFIER | c.2564-18501A>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66236534 | ||||||
chrX:66236681
|
A | C | 2 | a0001c0003t0001g0018a0001c0003t0001g0020 | 2 | HG02451.hp1 HG02976.hp2 |
intron_variant | MODIFIER | c.2564-18354A>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66236681 | ||||||
chrX:66236687
|
G | T | 57 | a0001c0002t0001g0006a0001c0002t0001g0022a0001c0002t0001g0023others(54): Show | 57 | HG00099.hp2 HG00733.hp1 HG00741.hp1 others(54): Show |
intron_variant | MODIFIER | c.2564-18348G>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66236687 | ||||||
chrX:66236702
|
T | C | 2 | a0001c0001t0001g0124a0001c0001t0001g0125 | 2 | NA18961.hp1 NA18990.hp1 |
intron_variant | MODIFIER | c.2564-18333T>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66236702 | ||||||
chrX:66236850
|
G | A | 4 | a0001c0002t0002g0039a0001c0002t0002g0040a0001c0002t0002g0041others(1): Show | 4 | HG01884.hp1 HG02257.hp2 HG02451.hp2 others(1): Show |
intron_variant | MODIFIER | c.2564-18185G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66236850 | ||||||
chrX:66236899
|
A | ATG | 1 | a0001c0001t0001g0093 | 1 | NA19089.hp1 | intron_variant | MODIFIER | c.2564-18133_2564-18 others(8): Show |
HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chrX | 66236899 | |||||
chrX:66236965
|
A | G | 57 | a0001c0002t0001g0006a0001c0002t0001g0022a0001c0002t0001g0023others(54): Show | 57 | HG00099.hp2 HG00733.hp1 HG00741.hp1 others(54): Show |
intron_variant | MODIFIER | c.2564-18070A>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66236965 | ||||||
chrX:66236988
|
T | A | 1 | a0004c0005t0001g0193 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.2564-18047T>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66236988 | ||||||
chrX:66237048
|
G | A | 1 | a0001c0003t0001g0002 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.2564-17987G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66237048 | ||||||
chrX:66237141
|
AT | A | 27 | a0001c0003t0001g0001a0001c0003t0001g0002a0001c0003t0001g0017others(24): Show | 28 | HG00735.hp1 HG00738.hp1 HG01081.hp1 others(25): Show |
intron_variant | MODIFIER | c.2564-17883delT | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chrX | 66237141 | |||||
chrX:66237425
|
T | A | 4 | a0001c0003t0002g0207a0001c0003t0002g0208a0001c0003t0002g0209others(1): Show | 4 | HG00738.hp1 HG01081.hp1 HG02647.hp1 others(1): Show |
intron_variant | MODIFIER | c.2564-17610T>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66237425 | ||||||
chrX:66237498
|
T | C | 1 | a0001c0001t0001g0115 | 1 | NA18612.hp1 | intron_variant | MODIFIER | c.2564-17537T>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66237498 | ||||||
chrX:66237500
|
A | T | 1 | a0001c0001t0001g0115 | 1 | NA18612.hp1 | intron_variant | MODIFIER | c.2564-17535A>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66237500 | ||||||
chrX:66237672
|
C | A | 1 | a0001c0001t0001g0205 | 1 | HG03942.hp1 | intron_variant | MODIFIER | c.2564-17363C>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66237672 | ||||||
chrX:66238083
|
G | C | 4 | a0001c0002t0001g0045a0001c0002t0002g0043a0001c0002t0002g0047others(1): Show | 4 | HG02572.hp1 HG02723.hp2 HG02895.hp1 others(1): Show |
intron_variant | MODIFIER | c.2564-16952G>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66238083 | ||||||
chrX:66238130
|
A | G | 3 | a0001c0003t0002g0207a0001c0003t0002g0208a0001c0003t0002g0209 | 3 | HG00738.hp1 HG01081.hp1 HG02647.hp1 |
intron_variant | MODIFIER | c.2564-16905A>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66238130 | ||||||
chrX:66238418
|
T | C | 57 | a0001c0002t0001g0006a0001c0002t0001g0022a0001c0002t0001g0023others(54): Show | 57 | HG00099.hp2 HG00733.hp1 HG00741.hp1 others(54): Show |
intron_variant | MODIFIER | c.2564-16617T>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66238418 | ||||||
chrX:66238575
|
G | A | 1 | a0004c0005t0001g0185 | 1 | NA19055.hp1 | intron_variant | MODIFIER | c.2564-16460G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66238575 | ||||||
chrX:66238670
|
A | T | 3 | a0001c0003t0001g0080a0001c0003t0002g0081a0001c0010t0001g0079 | 3 | HG02615.hp2 HG03130.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.2564-16365A>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66238670 | ||||||
chrX:66238798
|
G | A | 1 | a0001c0002t0002g0060 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.2564-16237G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66238798 | ||||||
chrX:66239280
|
G | T | 3 | a0001c0001t0001g0132a0001c0001t0001g0133a0001c0001t0001g0146 | 3 | HG01943.hp1 HG01978.hp1 HG02004.hp1 |
intron_variant | MODIFIER | c.2564-15755G>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66239280 | ||||||
chrX:66239381
|
A | C | 86 | a0001c0002t0001g0006a0001c0002t0001g0022a0001c0002t0001g0023others(83): Show | 87 | HG00099.hp2 HG00733.hp1 HG00735.hp1 others(84): Show |
intron_variant | MODIFIER | c.2564-15654A>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66239381 | ||||||
chrX:66239472
|
C | T | 2 | a0001c0002t0002g0034a0001c0002t0002g0035 | 2 | HG01884.hp2 HG02257.hp1 |
intron_variant | MODIFIER | c.2564-15563C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66239472 | ||||||
chrX:66239493
|
G | T | 2 | a0001c0002t0002g0010a0001c0002t0002g0011 | 2 | HG01243.hp1 HG02630.hp2 |
intron_variant | MODIFIER | c.2564-15542G>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66239493 | ||||||
chrX:66240499
|
G | A | 57 | a0001c0002t0001g0006a0001c0002t0001g0022a0001c0002t0001g0023others(54): Show | 57 | HG00099.hp2 HG00733.hp1 HG00741.hp1 others(54): Show |
intron_variant | MODIFIER | c.2564-14536G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66240499 | ||||||
chrX:66240521
|
TA | T | 78 | a0001c0002t0001g0006a0001c0002t0001g0042a0001c0002t0001g0045others(75): Show | 79 | HG00099.hp2 HG00733.hp1 HG00735.hp1 others(76): Show |
intron_variant | MODIFIER | c.2564-14501delA | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chrX | 66240521 | |||||
chrX:66240557
|
C | T | 6 | a0001c0002t0001g0006a0001c0002t0001g0055a0001c0002t0001g0057others(3): Show | 6 | HG00741.hp1 HG01081.hp2 HG01192.hp1 others(3): Show |
intron_variant | MODIFIER | c.2564-14478C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66240557 | ||||||
chrX:66240558
|
G | A | 28 | a0001c0003t0001g0001a0001c0003t0001g0002a0001c0003t0001g0017others(25): Show | 29 | HG00735.hp1 HG00738.hp1 HG01081.hp1 others(26): Show |
intron_variant | MODIFIER | c.2564-14477G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66240558 | ||||||
chrX:66240639
|
A | T | 28 | a0001c0003t0001g0001a0001c0003t0001g0002a0001c0003t0001g0017others(25): Show | 29 | HG00735.hp1 HG00738.hp1 HG01081.hp1 others(26): Show |
intron_variant | MODIFIER | c.2564-14396A>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66240639 | ||||||
chrX:66240709
|
G | A | 1 | a0001c0003t0001g0030 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.2564-14326G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66240709 | ||||||
chrX:66240792
|
G | A | 1 | a0001c0001t0001g0175 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.2564-14243G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66240792 | ||||||
chrX:66241739
|
T | C | 1 | a0001c0003t0001g0002 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.2564-13296T>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66241739 | ||||||
chrX:66241830
|
A | G | 1 | a0001c0003t0002g0209 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.2564-13205A>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66241830 | ||||||
chrX:66241986
|
G | T | 1 | a0001c0002t0001g0023 | 1 | HG02896.hp2 | intron_variant | MODIFIER | c.2564-13049G>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66241986 | ||||||
chrX:66242015
|
T | G | 1 | a0001c0003t0002g0007 | 1 | HG02896.hp1 | intron_variant | MODIFIER | c.2564-13020T>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66242015 | ||||||
chrX:66242073
|
G | GA | 17 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(14): Show | 17 | HG00621.hp1 HG02015.hp1 HG02074.hp1 others(14): Show |
intron_variant | MODIFIER | c.2564-12949dupA | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chrX | 66242073 | |||||
chrX:66242073
|
GA | G | 7 | a0001c0002t0002g0009a0001c0002t0002g0010a0001c0002t0002g0011others(4): Show | 7 | HG01243.hp1 HG01884.hp1 HG02257.hp2 others(4): Show |
intron_variant | MODIFIER | c.2564-12949delA | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chrX | 66242073 | |||||
chrX:66242230
|
C | A | 3 | a0001c0003t0001g0080a0001c0003t0002g0081a0001c0010t0001g0079 | 3 | HG02615.hp2 HG03130.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.2564-12805C>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66242230 | ||||||
chrX:66242298
|
G | T | 57 | a0001c0002t0001g0006a0001c0002t0001g0022a0001c0002t0001g0023others(54): Show | 57 | HG00099.hp2 HG00733.hp1 HG00741.hp1 others(54): Show |
intron_variant | MODIFIER | c.2564-12737G>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66242298 | ||||||
chrX:66242777
|
A | T | 1 | a0001c0001t0001g0106 | 1 | NA18965.hp1 | intron_variant | MODIFIER | c.2564-12258A>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66242777 | ||||||
chrX:66242803
|
C | T | 1 | a0001c0003t0001g0021 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.2564-12232C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66242803 | ||||||
chrX:66242835
|
C | T | 86 | a0001c0002t0001g0006a0001c0002t0001g0022a0001c0002t0001g0023others(83): Show | 87 | HG00099.hp2 HG00733.hp1 HG00735.hp1 others(84): Show |
intron_variant | MODIFIER | c.2564-12200C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66242835 | ||||||
chrX:66242928
|
T | A | 1 | a0001c0001t0001g0123 | 1 | HG00621.hp1 | intron_variant | MODIFIER | c.2564-12107T>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66242928 | ||||||
chrX:66243086
|
T | C | 1 | a0001c0001t0001g0130 | 1 | NA18948.hp1 | intron_variant | MODIFIER | c.2564-11949T>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66243086 | ||||||
chrX:66243375
|
T | C | 2 | a0001c0001t0001g0171a0001c0001t0001g0172 | 2 | HG02015.hp1 HG02074.hp1 |
intron_variant | MODIFIER | c.2564-11660T>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66243375 | ||||||
chrX:66243581
|
T | C | 1 | a0001c0003t0001g0001 | 2 | HG01167.hp1 HG01169.hp2 |
intron_variant | MODIFIER | c.2564-11454T>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66243581 | ||||||
chrX:66243655
|
A | G | 86 | a0001c0002t0001g0006a0001c0002t0001g0022a0001c0002t0001g0023others(83): Show | 87 | HG00099.hp2 HG00733.hp1 HG00735.hp1 others(84): Show |
intron_variant | MODIFIER | c.2564-11380A>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66243655 | ||||||
chrX:66243668
|
C | T | 1 | a0001c0001t0001g0167 | 1 | NA18949.hp1 | intron_variant | MODIFIER | c.2564-11367C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66243668 | ||||||
chrX:66244001
|
C | T | 16 | a0001c0002t0001g0045a0001c0002t0002g0043a0001c0002t0002g0044others(13): Show | 16 | HG01255.hp1 HG02109.hp1 HG02145.hp1 others(13): Show |
intron_variant | MODIFIER | c.2564-11034C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66244001 | ||||||
chrX:66244035
|
G | T | 1 | a0001c0001t0001g0149 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.2564-11000G>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66244035 | ||||||
chrX:66244115
|
T | C | 86 | a0001c0002t0001g0006a0001c0002t0001g0022a0001c0002t0001g0023others(83): Show | 87 | HG00099.hp2 HG00733.hp1 HG00735.hp1 others(84): Show |
intron_variant | MODIFIER | c.2564-10920T>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66244115 | ||||||
chrX:66244321
|
G | C | 1 | a0001c0002t0002g0032 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.2564-10714G>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66244321 | ||||||
chrX:66244387
|
G | A | 4 | a0001c0001t0001g0153a0001c0001t0001g0174a0001c0001t0001g0202others(1): Show | 4 | HG00733.hp2 HG01070.hp2 HG01074.hp1 others(1): Show |
intron_variant | MODIFIER | c.2564-10648G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66244387 | ||||||
chrX:66244575
|
AT | A | 1 | a0001c0001t0001g0130 | 1 | NA18948.hp1 | intron_variant | MODIFIER | c.2564-10453delT | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chrX | 66244575 | |||||
chrX:66244626
|
A | G | 1 | a0001c0001t0001g0147 | 1 | NA19079.hp1 | intron_variant | MODIFIER | c.2564-10409A>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66244626 | ||||||
chrX:66244652
|
C | T | 1 | a0001c0002t0002g0011 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.2564-10383C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66244652 | ||||||
chrX:66244793
|
C | T | 1 | a0001c0003t0001g0077 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.2564-10242C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66244793 | ||||||
chrX:66244893
|
TG | T | 1 | a0001c0002t0002g0069 | 1 | HG00733.hp1 | intron_variant | MODIFIER | c.2564-10141delG | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66244893 | ||||||
chrX:66244894
|
G | GT | 31 | a0001c0001t0001g0184a0001c0003t0001g0001a0001c0003t0001g0002others(28): Show | 32 | HG00735.hp1 HG00738.hp1 HG01081.hp1 others(29): Show |
intron_variant | MODIFIER | c.2564-10128dupT | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chrX | 66244894 | |||||
chrX:66244894
|
GT | G | 2 | a0001c0001t0001g0086a0001c0001t0001g0191 | 2 | HG03710.hp1 NA19091.hp1 |
intron_variant | MODIFIER | c.2564-10128delT | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chrX | 66244894 | |||||
chrX:66245279
|
A | T | 17 | a0001c0002t0001g0045a0001c0002t0002g0043a0001c0002t0002g0044others(14): Show | 17 | HG01255.hp1 HG02109.hp1 HG02145.hp1 others(14): Show |
intron_variant | MODIFIER | c.2564-9756A>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66245279 | ||||||
chrX:66245324
|
G | A | 21 | a0001c0003t0001g0001a0001c0003t0001g0002a0001c0003t0001g0017others(18): Show | 22 | HG00735.hp1 HG01167.hp1 HG01169.hp2 others(19): Show |
intron_variant | MODIFIER | c.2564-9711G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66245324 | ||||||
chrX:66245667
|
A | C | 86 | a0001c0002t0001g0006a0001c0002t0001g0022a0001c0002t0001g0023others(83): Show | 87 | HG00099.hp2 HG00733.hp1 HG00735.hp1 others(84): Show |
intron_variant | MODIFIER | c.2564-9368A>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66245667 | ||||||
chrX:66245760
|
C | T | 1 | a0001c0003t0001g0002 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.2564-9275C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66245760 | ||||||
chrX:66245926
|
G | A | 11 | a0001c0003t0001g0002a0001c0003t0001g0018a0001c0003t0001g0019others(8): Show | 11 | HG00735.hp1 HG01891.hp1 HG02258.hp1 others(8): Show |
intron_variant | MODIFIER | c.2564-9109G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66245926 | ||||||
chrX:66246031
|
C | T | 1 | a0001c0002t0001g0006 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.2564-9004C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66246031 | ||||||
chrX:66246122
|
G | A | 1 | a0001c0002t0002g0068 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.2564-8913G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66246122 | ||||||
chrX:66246262
|
C | T | 2 | a0001c0003t0002g0208a0001c0003t0002g0209 | 2 | HG01081.hp1 HG02647.hp1 |
intron_variant | MODIFIER | c.2564-8773C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66246262 | ||||||
chrX:66246405
|
T | G | 1 | a0005c0006t0001g0083 | 1 | NA18959.hp1 | intron_variant | MODIFIER | c.2564-8630T>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66246405 | ||||||
chrX:66246422
|
G | T | 2 | a0001c0001t0001g0139a0001c0001t0001g0140 | 2 | NA19062.hp1 NA19076.hp1 |
intron_variant | MODIFIER | c.2564-8613G>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66246422 | ||||||
chrX:66246425
|
C | T | 1 | a0001c0002t0001g0022 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.2564-8610C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66246425 | ||||||
chrX:66246579
|
A | T | 1 | a0001c0002t0002g0011 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.2564-8456A>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66246579 | ||||||
chrX:66246824
|
G | A | 2 | a0001c0003t0001g0080a0001c0003t0002g0081 | 2 | HG03130.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.2564-8211G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66246824 | ||||||
chrX:66246964
|
T | C | 1 | a0001c0002t0002g0009 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.2564-8071T>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66246964 | ||||||
chrX:66247572
|
T | C | 1 | a0001c0002t0002g0050 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.2564-7463T>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66247572 | ||||||
chrX:66247598
|
T | C | 4 | a0001c0003t0002g0207a0001c0003t0002g0208a0001c0003t0002g0209others(1): Show | 4 | HG00738.hp1 HG01081.hp1 HG02647.hp1 others(1): Show |
intron_variant | MODIFIER | c.2564-7437T>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66247598 | ||||||
chrX:66248065
|
C | A | 1 | a0001c0001t0001g0138 | 1 | HG02056.hp1 | intron_variant | MODIFIER | c.2564-6970C>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66248065 | ||||||
chrX:66248611
|
A | G | 1 | a0001c0003t0002g0016 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.2564-6424A>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66248611 | ||||||
chrX:66248674
|
G | A | 86 | a0001c0002t0001g0006a0001c0002t0001g0022a0001c0002t0001g0023others(83): Show | 87 | HG00099.hp2 HG00733.hp1 HG00735.hp1 others(84): Show |
intron_variant | MODIFIER | c.2564-6361G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66248674 | ||||||
chrX:66248682
|
T | C | 1 | a0001c0003t0001g0077 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.2564-6353T>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66248682 | ||||||
chrX:66248686
|
G | T | 1 | a0002c0004t0002g0013 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.2564-6349G>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66248686 | ||||||
chrX:66248838
|
A | T | 1 | a0001c0001t0001g0179 | 1 | HG02165.hp2 | intron_variant | MODIFIER | c.2564-6197A>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66248838 | ||||||
chrX:66248978
|
G | A | 1 | a0001c0002t0002g0009 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.2564-6057G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66248978 | ||||||
chrX:66249000
|
T | A | 3 | a0001c0003t0001g0025a0001c0003t0001g0077a0001c0003t0002g0026 | 3 | HG02055.hp1 HG02109.hp2 HG03041.hp1 |
intron_variant | MODIFIER | c.2564-6035T>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66249000 | ||||||
chrX:66249029
|
G | T | 1 | a0001c0002t0002g0038 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.2564-6006G>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66249029 | ||||||
chrX:66249074
|
G | A | 14 | a0001c0003t0001g0001a0001c0003t0001g0002a0001c0003t0001g0017others(11): Show | 15 | HG00735.hp1 HG01167.hp1 HG01169.hp2 others(12): Show |
intron_variant | MODIFIER | c.2564-5961G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66249074 | ||||||
chrX:66249173
|
G | T | 3 | a0001c0003t0001g0080a0001c0003t0002g0081a0001c0010t0001g0079 | 3 | HG02615.hp2 HG03130.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.2564-5862G>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66249173 | ||||||
chrX:66249300
|
C | A | 1 | a0001c0003t0002g0209 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.2564-5735C>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66249300 | ||||||
chrX:66249301
|
C | A | 1 | a0001c0003t0002g0209 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.2564-5734C>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66249301 | ||||||
chrX:66249449
|
A | G | 86 | a0001c0002t0001g0006a0001c0002t0001g0022a0001c0002t0001g0023others(83): Show | 87 | HG00099.hp2 HG00733.hp1 HG00735.hp1 others(84): Show |
intron_variant | MODIFIER | c.2564-5586A>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66249449 | ||||||
chrX:66249460
|
C | A | 1 | a0010c0015t0001g0078 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.2564-5575C>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66249460 | ||||||
chrX:66249490
|
T | C | 1 | a0001c0001t0001g0195 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.2564-5545T>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66249490 | ||||||
chrX:66249557
|
A | T | 57 | a0001c0002t0001g0006a0001c0002t0001g0022a0001c0002t0001g0023others(54): Show | 57 | HG00099.hp2 HG00733.hp1 HG00741.hp1 others(54): Show |
intron_variant | MODIFIER | c.2564-5478A>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66249557 | ||||||
chrX:66249804
|
G | T | 57 | a0001c0002t0001g0006a0001c0002t0001g0022a0001c0002t0001g0023others(54): Show | 57 | HG00099.hp2 HG00733.hp1 HG00741.hp1 others(54): Show |
intron_variant | MODIFIER | c.2564-5231G>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66249804 | ||||||
chrX:66250042
|
G | A | 1 | a0001c0014t0002g0210 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.2564-4993G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66250042 | ||||||
chrX:66250053
|
A | T | 57 | a0001c0002t0001g0006a0001c0002t0001g0022a0001c0002t0001g0023others(54): Show | 57 | HG00099.hp2 HG00733.hp1 HG00741.hp1 others(54): Show |
intron_variant | MODIFIER | c.2564-4982A>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66250053 | ||||||
chrX:66250075
|
G | A | 1 | a0001c0001t0001g0201 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.2564-4960G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66250075 | ||||||
chrX:66250132
|
TG | T | 1 | a0001c0003t0001g0002 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.2564-4901delG | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chrX | 66250132 | |||||
chrX:66250152
|
TC | T | 2 | a0001c0001t0001g0105a0001c0001t0001g0128 | 2 | NA18966.hp1 NA19063.hp1 |
intron_variant | MODIFIER | c.2564-4881delC | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chrX | 66250152 | |||||
chrX:66250154
|
C | G | 2 | a0001c0001t0001g0105a0001c0001t0001g0128 | 2 | NA18966.hp1 NA19063.hp1 |
intron_variant | MODIFIER | c.2564-4881C>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66250154 | ||||||
chrX:66250190
|
T | C | 17 | a0001c0002t0001g0045a0001c0002t0002g0043a0001c0002t0002g0044others(14): Show | 17 | HG01255.hp1 HG02109.hp1 HG02145.hp1 others(14): Show |
intron_variant | MODIFIER | c.2564-4845T>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66250190 | ||||||
chrX:66250305
|
C | A | 1 | a0001c0002t0002g0009 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.2564-4730C>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66250305 | ||||||
chrX:66250948
|
A | G | 1 | a0001c0001t0001g0084 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.2564-4087A>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66250948 | ||||||
chrX:66251519
|
AT | A | 2 | a0001c0003t0002g0208a0001c0003t0002g0209 | 2 | HG01081.hp1 HG02647.hp1 |
intron_variant | MODIFIER | c.2564-3507delT | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chrX | 66251519 | |||||
chrX:66252247
|
G | C | 7 | a0001c0003t0001g0025a0001c0003t0001g0027a0001c0003t0001g0028others(4): Show | 7 | HG02055.hp1 HG02109.hp2 HG02622.hp2 others(4): Show |
intron_variant | MODIFIER | c.2564-2788G>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66252247 | ||||||
chrX:66252264
|
A | G | 1 | a0001c0001t0001g0179 | 1 | HG02165.hp2 | intron_variant | MODIFIER | c.2564-2771A>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66252264 | ||||||
chrX:66252684
|
C | T | 1 | a0001c0001t0001g0123 | 1 | HG00621.hp1 | intron_variant | MODIFIER | c.2564-2351C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66252684 | ||||||
chrX:66252823
|
TCAA | T | 2 | a0001c0001t0001g0151a0001c0001t0001g0152 | 2 | HG01433.hp1 HG03654.hp1 |
intron_variant | MODIFIER | c.2564-2208_2564-220 others(7): Show |
HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chrX | 66252823 | |||||
chrX:66252855
|
A | T | 7 | a0001c0003t0001g0025a0001c0003t0001g0027a0001c0003t0001g0028others(4): Show | 7 | HG02055.hp1 HG02109.hp2 HG02622.hp2 others(4): Show |
intron_variant | MODIFIER | c.2564-2180A>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66252855 | ||||||
chrX:66253244
|
A | G | 1 | a0001c0002t0002g0063 | 1 | HG01978.hp2 | intron_variant | MODIFIER | c.2564-1791A>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66253244 | ||||||
chrX:66253315
|
TC | T | 1 | a0001c0001t0001g0183 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.2564-1717delC | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chrX | 66253315 | |||||
chrX:66253382
|
A | T | 1 | a0002c0004t0002g0013 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.2564-1653A>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66253382 | ||||||
chrX:66253422
|
T | A | 25 | a0001c0003t0001g0001a0001c0003t0001g0002a0001c0003t0001g0017others(22): Show | 26 | HG00735.hp1 HG00738.hp1 HG01081.hp1 others(23): Show |
intron_variant | MODIFIER | c.2564-1613T>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66253422 | ||||||
chrX:66253423
|
G | T | 25 | a0001c0003t0001g0001a0001c0003t0001g0002a0001c0003t0001g0017others(22): Show | 26 | HG00735.hp1 HG00738.hp1 HG01081.hp1 others(23): Show |
intron_variant | MODIFIER | c.2564-1612G>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66253423 | ||||||
chrX:66253485
|
T | A | 26 | a0001c0003t0001g0001a0001c0003t0001g0002a0001c0003t0001g0017others(23): Show | 27 | HG00735.hp1 HG00738.hp1 HG01081.hp1 others(24): Show |
intron_variant | MODIFIER | c.2564-1550T>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66253485 | ||||||
chrX:66253581
|
G | A | 130 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(127): Show | 130 | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(127): Show |
intron_variant | MODIFIER | c.2564-1454G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66253581 | ||||||
chrX:66253721
|
A | C | 3 | a0001c0003t0001g0025a0001c0003t0001g0077a0001c0003t0002g0026 | 3 | HG02055.hp1 HG02109.hp2 HG03041.hp1 |
intron_variant | MODIFIER | c.2564-1314A>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66253721 | ||||||
chrX:66253820
|
T | TA | 2 | a0001c0002t0001g0058a0010c0015t0001g0078 | 2 | HG00741.hp1 HG02809.hp1 |
intron_variant | MODIFIER | c.2564-1208dupA | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chrX | 66253820 | |||||
chrX:66253940
|
A | C | 4 | a0001c0003t0001g0027a0001c0003t0001g0028a0001c0003t0001g0029others(1): Show | 4 | HG02622.hp2 HG02922.hp1 HG03098.hp1 others(1): Show |
intron_variant | MODIFIER | c.2564-1095A>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66253940 | ||||||
chrX:66253981
|
G | GT | 1 | a0004c0005t0001g0185 | 1 | NA19055.hp1 | intron_variant | MODIFIER | c.2564-1047dupT | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chrX | 66253981 | |||||
chrX:66253981
|
GT | G | 1 | a0001c0001t0001g0183 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.2564-1047delT | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chrX | 66253981 | |||||
chrX:66254015
|
G | A | 1 | a0001c0001t0001g0149 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.2564-1020G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66254015 | ||||||
chrX:66254203
|
G | A | 1 | a0001c0002t0001g0045 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.2564-832G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66254203 | ||||||
chrX:66254226
|
C | G | 2 | a0001c0002t0002g0034a0001c0002t0002g0035 | 2 | HG01884.hp2 HG02257.hp1 |
intron_variant | MODIFIER | c.2564-809C>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66254226 | ||||||
chrX:66254236
|
C | T | 11 | a0001c0003t0001g0001a0001c0003t0001g0002a0001c0003t0001g0017others(8): Show | 12 | HG00735.hp1 HG01167.hp1 HG01169.hp2 others(9): Show |
intron_variant | MODIFIER | c.2564-799C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66254236 | ||||||
chrX:66254255
|
A | T | 4 | a0001c0001t0001g0153a0001c0001t0001g0174a0001c0001t0001g0202others(1): Show | 4 | HG00733.hp2 HG01070.hp2 HG01074.hp1 others(1): Show |
intron_variant | MODIFIER | c.2564-780A>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66254255 | ||||||
chrX:66254263
|
G | T | 1 | a0001c0001t0001g0158 | 1 | NA18986.hp1 | intron_variant | MODIFIER | c.2564-772G>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66254263 | ||||||
chrX:66254307
|
C | G | 2 | a0001c0003t0001g0025a0001c0003t0002g0026 | 2 | HG02109.hp2 HG03041.hp1 |
intron_variant | MODIFIER | c.2564-728C>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66254307 | ||||||
chrX:66254817
|
T | C | 1 | a0006c0013t0002g0076 | 1 | HG02273.hp1 | intron_variant | MODIFIER | c.2564-218T>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66254817 | ||||||
chrX:66254863
|
A | AG | 1 | a0007c0012t0001g0104 | 1 | NA19067.hp1 | intron_variant | MODIFIER | c.2564-169dupG | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chrX | 66254863 | |||||
chrX:66254932
|
C | T | 197 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(194): Show | 198 | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(195): Show |
intron_variant | MODIFIER | c.2564-103C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66254932 | ||||||
chrX:66255294
|
G | A | 9 | a0001c0001t0001g0093a0001c0001t0001g0094a0001c0001t0001g0103others(6): Show | 9 | HG00597.hp1 NA18949.hp2 NA18962.hp1 others(6): Show |
intron_variant | MODIFIER | c.2670+153G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 16/20 | chrX | 66255294 | ||||||
chrX:66255368
|
C | A | 1 | a0001c0001t0001g0157 | 1 | NA18940.hp1 | intron_variant | MODIFIER | c.2670+227C>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 16/20 | chrX | 66255368 | ||||||
chrX:66255392
|
TA | T | 213 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(210): Show | 214 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(211): Show |
intron_variant | MODIFIER | c.2670+260delA | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 16/20 | INFO_REALIGN_3_PRIME | chrX | 66255392 | |||||
chrX:66255427
|
CAAAA | C | 18 | a0001c0003t0001g0001a0001c0003t0001g0002a0001c0003t0001g0017others(15): Show | 19 | HG00735.hp1 HG01167.hp1 HG01169.hp2 others(16): Show |
intron_variant | MODIFIER | c.2670+287_2670+290d others(6): Show |
HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 16/20 | chrX | 66255427 | ||||||
chrX:66256450
|
G | T | 1 | a0001c0001t0001g0125 | 1 | NA18961.hp1 | intron_variant | MODIFIER | c.2896+120G>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 17/20 | chrX | 66256450 | ||||||
chrX:66256565
|
G | A | 4 | a0001c0003t0001g0027a0001c0003t0001g0028a0001c0003t0001g0029others(1): Show | 4 | HG02622.hp2 HG02922.hp1 HG03098.hp1 others(1): Show |
intron_variant | MODIFIER | c.2896+235G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 17/20 | chrX | 66256565 | ||||||
chrX:66256580
|
G | A | 1 | a0001c0003t0001g0021 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.2896+250G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 17/20 | chrX | 66256580 | ||||||
chrX:66256623
|
T | G | 1 | a0001c0002t0002g0009 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.2896+293T>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 17/20 | chrX | 66256623 | ||||||
chrX:66256649
|
G | A | 1 | a0001c0001t0001g0150 | 1 | HG00735.hp2 | intron_variant | MODIFIER | c.2896+319G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 17/20 | chrX | 66256649 | ||||||
chrX:66256799
|
G | C | 3 | a0002c0004t0002g0013a0002c0004t0002g0014a0002c0004t0002g0015 | 3 | HG01891.hp1 HG02809.hp2 HG02970.hp1 |
intron_variant | MODIFIER | c.2896+469G>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 17/20 | chrX | 66256799 | ||||||
chrX:66257101
|
A | T | 21 | a0001c0003t0001g0001a0001c0003t0001g0002a0001c0003t0001g0017others(18): Show | 22 | HG00735.hp1 HG01167.hp1 HG01169.hp2 others(19): Show |
intron_variant | MODIFIER | c.2896+771A>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 17/20 | chrX | 66257101 | ||||||
chrX:66257247
|
CAGTT | C | 4 | a0001c0003t0001g0027a0001c0003t0001g0028a0001c0003t0001g0029others(1): Show | 4 | HG02622.hp2 HG02922.hp1 HG03098.hp1 others(1): Show |
intron_variant | MODIFIER | c.2896+920_2896+923d others(6): Show |
HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 17/20 | INFO_REALIGN_3_PRIME | chrX | 66257247 | |||||
chrX:66257254
|
G | A | 3 | a0001c0002t0002g0039a0001c0002t0002g0040a0001c0002t0002g0041 | 3 | HG01884.hp1 HG02257.hp2 HG02451.hp2 |
intron_variant | MODIFIER | c.2896+924G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 17/20 | chrX | 66257254 | ||||||
chrX:66257409
|
G | T | 1 | a0001c0001t0001g0154 | 1 | HG00642.hp1 | intron_variant | MODIFIER | c.2896+1079G>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 17/20 | chrX | 66257409 | ||||||
chrX:66257868
|
A | T | 17 | a0001c0002t0001g0045a0001c0002t0002g0043a0001c0002t0002g0044others(14): Show | 17 | HG01255.hp1 HG02109.hp1 HG02145.hp1 others(14): Show |
intron_variant | MODIFIER | c.2897-972A>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 17/20 | chrX | 66257868 | ||||||
chrX:66258050
|
A | AT | 1 | a0001c0001t0001g0147 | 1 | NA19079.hp1 | intron_variant | MODIFIER | c.2897-783dupT | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 17/20 | INFO_REALIGN_3_PRIME | chrX | 66258050 | |||||
chrX:66258503
|
G | A | 131 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(128): Show | 131 | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(128): Show |
intron_variant | MODIFIER | c.2897-337G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 17/20 | chrX | 66258503 | ||||||
chrX:66258527
|
T | C | 1 | a0010c0015t0001g0078 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.2897-313T>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 17/20 | chrX | 66258527 | ||||||
chrX:66258737
|
C | T | 3 | a0001c0002t0001g0055a0001c0002t0001g0058a0001c0002t0002g0056 | 3 | HG00741.hp1 HG01192.hp1 HG01516.hp1 |
intron_variant | MODIFIER | c.2897-103C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 17/20 | chrX | 66258737 | ||||||
chrX:66258800
|
T | TTTTTC | 5 | a0001c0002t0001g0024a0001c0002t0001g0055a0001c0003t0001g0025others(2): Show | 5 | HG01192.hp1 HG02055.hp1 HG02109.hp2 others(2): Show |
intron_variant | MODIFIER | c.2897-15_2897-11dup others(5): Show |
HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 17/20 | INFO_REALIGN_3_PRIME | chrX | 66258800 | |||||
chrX:66258800
|
TTTTTC | T | 1 | a0001c0001t0001g0085 | 1 | NA18943.hp1 | intron_variant | MODIFIER | c.2897-15_2897-11del others(5): Show |
HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 17/20 | INFO_REALIGN_3_PRIME | chrX | 66258800 | |||||
chrX:66258825
|
C | CT | 1 | a0001c0001t0001g0172 | 1 | HG02074.hp1 | splice_region_variant&intron_variant | LOW | c.2897-6dupT | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 17/20 | INFO_REALIGN_3_PRIME | chrX | 66258825 | |||||
chrX:66259080
|
T | TA | 159 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(156): Show | 160 | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(157): Show |
intron_variant | MODIFIER | c.3036+104dupA | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 18/20 | INFO_REALIGN_3_PRIME | chrX | 66259080 | |||||
chrX:66259159
|
C | T | 1 | a0001c0001t0001g0191 | 1 | HG03710.hp1 | intron_variant | MODIFIER | c.3036+180C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 18/20 | chrX | 66259159 | ||||||
chrX:66259541
|
T | G | 1 | a0005c0006t0001g0083 | 1 | NA18959.hp1 | intron_variant | MODIFIER | c.3037-559T>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 18/20 | chrX | 66259541 | ||||||
chrX:66259675
|
G | A | 1 | a0001c0002t0001g0058 | 1 | HG00741.hp1 | intron_variant | MODIFIER | c.3037-425G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 18/20 | chrX | 66259675 | ||||||
chrX:66259711
|
C | CT | 7 | a0001c0002t0002g0059a0001c0002t0002g0068a0001c0003t0001g0080others(4): Show | 7 | HG02615.hp2 HG02647.hp1 HG03130.hp1 others(4): Show |
intron_variant | MODIFIER | c.3037-374dupT | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 18/20 | INFO_REALIGN_3_PRIME | chrX | 66259711 | |||||
chrX:66259711
|
CT | C | 14 | a0001c0001t0001g0127a0001c0003t0001g0001a0001c0003t0001g0002others(11): Show | 15 | HG00735.hp1 HG01081.hp1 HG01167.hp1 others(12): Show |
intron_variant | MODIFIER | c.3037-374delT | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 18/20 | INFO_REALIGN_3_PRIME | chrX | 66259711 | |||||
chrX:66259711
|
CTT | C | 2 | a0001c0003t0001g0017a0001c0003t0002g0007 | 2 | HG02622.hp1 HG02896.hp1 |
intron_variant | MODIFIER | c.3037-375_3037-374d others(4): Show |
HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 18/20 | INFO_REALIGN_3_PRIME | chrX | 66259711 | |||||
chrX:66259975
|
C | T | 1 | a0001c0003t0002g0007 | 1 | HG02896.hp1 | intron_variant | MODIFIER | c.3037-125C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 18/20 | chrX | 66259975 | ||||||
chrX:66260361
|
TC | T | 1 | a0001c0001t0001g0127 | 1 | NA19086.hp1 | intron_variant | MODIFIER | c.3199+102delC | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 19/20 | INFO_REALIGN_3_PRIME | chrX | 66260361 | |||||
chrX:66260500
|
A | G | 159 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(156): Show | 160 | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(157): Show |
intron_variant | MODIFIER | c.3199+238A>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 19/20 | chrX | 66260500 | ||||||
chrX:66260769
|
C | CT | 18 | a0001c0002t0001g0045a0001c0002t0002g0043a0001c0002t0002g0044others(15): Show | 18 | HG01255.hp1 HG02109.hp1 HG02145.hp1 others(15): Show |
intron_variant | MODIFIER | c.3199+518dupT | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 19/20 | INFO_REALIGN_3_PRIME | chrX | 66260769 | |||||
chrX:66260769
|
CT | C | 2 | a0001c0001t0001g0127a0001c0001t0001g0133 | 2 | HG01978.hp1 NA19086.hp1 |
intron_variant | MODIFIER | c.3199+518delT | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 19/20 | INFO_REALIGN_3_PRIME | chrX | 66260769 | |||||
chrX:66261078
|
A | C | 2 | a0001c0001t0001g0097a0001c0001t0001g0167 | 2 | NA18949.hp1 NA18953.hp1 |
intron_variant | MODIFIER | c.3199+816A>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 19/20 | chrX | 66261078 | ||||||
chrX:66261137
|
C | A | 3 | a0001c0003t0001g0080a0001c0003t0002g0081a0001c0010t0001g0079 | 3 | HG02615.hp2 HG03130.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.3199+875C>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 19/20 | chrX | 66261137 | ||||||
chrX:66261333
|
G | A | 130 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(127): Show | 130 | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(127): Show |
intron_variant | MODIFIER | c.3199+1071G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 19/20 | chrX | 66261333 | ||||||
chrX:66261427
|
G | T | 1 | a0001c0001t0001g0153 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.3199+1165G>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 19/20 | chrX | 66261427 | ||||||
chrX:66261538
|
G | GT | 3 | a0001c0002t0002g0059a0001c0002t0002g0068a0001c0003t0001g0025 | 3 | HG02109.hp2 HG04199.hp1 NA19030.hp2 |
intron_variant | MODIFIER | c.3199+1292dupT | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 19/20 | INFO_REALIGN_3_PRIME | chrX | 66261538 | |||||
chrX:66261538
|
GT | G | 148 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(145): Show | 149 | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(146): Show |
intron_variant | MODIFIER | c.3199+1292delT | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 19/20 | INFO_REALIGN_3_PRIME | chrX | 66261538 | |||||
chrX:66261538
|
GTT | G | 10 | a0001c0001t0001g0094a0001c0001t0001g0097a0001c0001t0001g0116others(7): Show | 10 | HG00609.hp1 HG01891.hp1 HG02809.hp2 others(7): Show |
intron_variant | MODIFIER | c.3199+1291_3199+129 others(6): Show |
HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 19/20 | INFO_REALIGN_3_PRIME | chrX | 66261538 | |||||
chrX:66261544
|
T | C | 1 | a0001c0002t0002g0063 | 1 | HG01978.hp2 | intron_variant | MODIFIER | c.3199+1282T>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 19/20 | chrX | 66261544 | ||||||
chrX:66261670
|
G | A | 130 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(127): Show | 130 | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(127): Show |
intron_variant | MODIFIER | c.3199+1408G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 19/20 | chrX | 66261670 | ||||||
chrX:66261920
|
G | T | 1 | a0001c0001t0001g0151 | 1 | HG03654.hp1 | intron_variant | MODIFIER | c.3199+1658G>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 19/20 | chrX | 66261920 | ||||||
chrX:66261992
|
A | G | 1 | a0001c0003t0002g0208 | 1 | HG01081.hp1 | intron_variant | MODIFIER | c.3200-1652A>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 19/20 | chrX | 66261992 | ||||||
chrX:66262117
|
C | T | 1 | a0001c0002t0002g0067 | 1 | HG01169.hp1 | intron_variant | MODIFIER | c.3200-1527C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 19/20 | chrX | 66262117 | ||||||
chrX:66262215
|
A | T | 1 | a0001c0014t0002g0210 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.3200-1429A>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 19/20 | chrX | 66262215 | ||||||
chrX:66262259
|
A | G | 2 | a0001c0002t0001g0042a0001c0002t0001g0215 | 2 | HG02280.hp2 HG02886.hp2 |
intron_variant | MODIFIER | c.3200-1385A>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 19/20 | chrX | 66262259 | ||||||
chrX:66262269
|
T | G | 131 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(128): Show | 131 | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(128): Show |
intron_variant | MODIFIER | c.3200-1375T>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 19/20 | chrX | 66262269 | ||||||
chrX:66262332
|
G | A | 1 | a0001c0002t0002g0070 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.3200-1312G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 19/20 | chrX | 66262332 | ||||||
chrX:66262416
|
C | T | 2 | a0001c0002t0001g0042a0001c0002t0001g0215 | 2 | HG02280.hp2 HG02886.hp2 |
intron_variant | MODIFIER | c.3200-1228C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 19/20 | chrX | 66262416 | ||||||
chrX:66262518
|
A | T | 7 | a0001c0003t0001g0025a0001c0003t0001g0027a0001c0003t0001g0028others(4): Show | 7 | HG02055.hp1 HG02109.hp2 HG02622.hp2 others(4): Show |
intron_variant | MODIFIER | c.3200-1126A>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 19/20 | chrX | 66262518 | ||||||
chrX:66262828
|
A | G | 1 | a0001c0001t0001g0145 | 1 | HG00597.hp1 | intron_variant | MODIFIER | c.3200-816A>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 19/20 | chrX | 66262828 | ||||||
chrX:66262843
|
G | T | 1 | a0001c0002t0002g0036 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.3200-801G>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 19/20 | chrX | 66262843 | ||||||
chrX:66263010
|
G | A | 130 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(127): Show | 130 | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(127): Show |
intron_variant | MODIFIER | c.3200-634G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 19/20 | chrX | 66263010 | ||||||
chrX:66263105
|
G | T | 130 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(127): Show | 130 | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(127): Show |
intron_variant | MODIFIER | c.3200-539G>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 19/20 | chrX | 66263105 | ||||||
chrX:66263127
|
A | C | 3 | a0001c0003t0001g0080a0001c0003t0002g0081a0001c0010t0001g0079 | 3 | HG02615.hp2 HG03130.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.3200-517A>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 19/20 | chrX | 66263127 | ||||||
chrX:66263135
|
G | A | 4 | a0001c0003t0002g0207a0001c0003t0002g0208a0001c0003t0002g0209others(1): Show | 4 | HG00738.hp1 HG01081.hp1 HG02647.hp1 others(1): Show |
intron_variant | MODIFIER | c.3200-509G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 19/20 | chrX | 66263135 | ||||||
chrX:66263247
|
A | C | 1 | a0001c0001t0001g0084 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.3200-397A>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 19/20 | chrX | 66263247 | ||||||
chrX:66263326
|
A | G | 1 | a0001c0002t0002g0056 | 1 | HG01516.hp1 | intron_variant | MODIFIER | c.3200-318A>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 19/20 | chrX | 66263326 | ||||||
chrX:66263588
|
T | C | 3 | a0001c0003t0001g0080a0001c0003t0002g0081a0001c0010t0001g0079 | 3 | HG02615.hp2 HG03130.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.3200-56T>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 19/20 | chrX | 66263588 | ||||||
chrX:66263714
|
G | T | 2 | a0001c0001t0001g0107a0001c0001t0001g0143 | 2 | NA18971.hp1 NA19056.hp1 |
intron_variant | MODIFIER | c.3244+26G>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 20/20 | chrX | 66263714 | ||||||
chrX:66263875
|
T | G | 2 | a0003c0007t0001g0165a0003c0007t0001g0166 | 2 | NA18984.hp1 NA19009.hp1 |
intron_variant | MODIFIER | c.3244+187T>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 20/20 | chrX | 66263875 | ||||||
chrX:66264016
|
A | C | 3 | a0001c0002t0002g0039a0001c0002t0002g0040a0001c0002t0002g0041 | 3 | HG01884.hp1 HG02257.hp2 HG02451.hp2 |
intron_variant | MODIFIER | c.3244+328A>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 20/20 | chrX | 66264016 | ||||||
chrX:66264250
|
A | AAT | 5 | a0001c0001t0001g0088a0001c0001t0001g0094a0001c0001t0001g0101others(2): Show | 5 | HG01516.hp2 HG02602.hp1 HG02615.hp2 others(2): Show |
intron_variant | MODIFIER | c.3244+577_3244+578d others(4): Show |
HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 20/20 | INFO_REALIGN_3_PRIME | chrX | 66264250 | |||||
chrX:66264254
|
T | TATATATA others(23): Show |
2 | a0001c0001t0001g0157a0001c0001t0001g0168 | 2 | HG02132.hp1 NA18940.hp1 |
intron_variant | MODIFIER | c.3244+579_3244+608d others(32): Show |
HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 20/20 | INFO_REALIGN_3_PRIME | chrX | 66264254 | |||||
chrX:66264284
|
A | AAT | 4 | a0001c0002t0002g0070a0001c0003t0001g0080a0001c0003t0002g0081others(1): Show | 4 | HG02615.hp2 HG03130.hp1 NA19030.hp1 others(1): Show |
intron_variant | MODIFIER | c.3244+609_3244+610d others(4): Show |
HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 20/20 | INFO_REALIGN_3_PRIME | chrX | 66264284 | |||||
chrX:66264299
|
T | A | 1 | a0001c0002t0002g0053 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.3244+611T>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 20/20 | chrX | 66264299 | ||||||
chrX:66264401
|
A | C | 7 | a0001c0003t0001g0025a0001c0003t0001g0027a0001c0003t0001g0028others(4): Show | 7 | HG02055.hp1 HG02109.hp2 HG02622.hp2 others(4): Show |
intron_variant | MODIFIER | c.3244+713A>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 20/20 | chrX | 66264401 | ||||||
chrX:66264462
|
T | G | 1 | a0001c0001t0001g0195 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.3244+774T>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 20/20 | chrX | 66264462 | ||||||
chrX:66264520
|
G | T | 2 | a0001c0001t0001g0155a0001c0001t0001g0156 | 2 | NA18944.hp1 NA19083.hp1 |
intron_variant | MODIFIER | c.3244+832G>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 20/20 | chrX | 66264520 | ||||||
chrX:66264616
|
G | A | 7 | a0001c0002t0002g0044a0001c0002t0002g0048a0001c0002t0002g0049others(4): Show | 7 | HG02109.hp1 HG02145.hp1 HG02970.hp2 others(4): Show |
intron_variant | MODIFIER | c.3244+928G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 20/20 | chrX | 66264616 | ||||||
chrX:66264653
|
T | C | 1 | a0001c0003t0002g0007 | 1 | HG02896.hp1 | intron_variant | MODIFIER | c.3244+965T>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 20/20 | chrX | 66264653 | ||||||
chrX:66264715
|
G | C | 130 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(127): Show | 130 | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(127): Show |
intron_variant | MODIFIER | c.3244+1027G>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 20/20 | chrX | 66264715 | ||||||
chrX:66264806
|
T | TTA | 3 | a0001c0003t0001g0080a0001c0003t0002g0081a0001c0010t0001g0079 | 3 | HG02615.hp2 HG03130.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.3244+1130_3244+113 others(6): Show |
HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 20/20 | INFO_REALIGN_3_PRIME | chrX | 66264806 | |||||
chrX:66264818
|
A | T | 3 | a0001c0002t0002g0039a0001c0002t0002g0040a0001c0002t0002g0041 | 3 | HG01884.hp1 HG02257.hp2 HG02451.hp2 |
intron_variant | MODIFIER | c.3244+1130A>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 20/20 | chrX | 66264818 | ||||||
chrX:66264820
|
T | A | 1 | a0001c0002t0002g0010 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.3244+1132T>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 20/20 | chrX | 66264820 | ||||||
chrX:66264852
|
A | T | 7 | a0001c0003t0001g0025a0001c0003t0001g0027a0001c0003t0001g0028others(4): Show | 7 | HG02055.hp1 HG02109.hp2 HG02622.hp2 others(4): Show |
intron_variant | MODIFIER | c.3244+1164A>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 20/20 | chrX | 66264852 | ||||||
chrX:66264899
|
G | A | 1 | a0010c0015t0001g0078 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.3244+1211G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 20/20 | chrX | 66264899 | ||||||
chrX:66264914
|
T | C | 130 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(127): Show | 130 | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(127): Show |
intron_variant | MODIFIER | c.3244+1226T>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 20/20 | chrX | 66264914 | ||||||
chrX:66264978
|
T | C | 159 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(156): Show | 160 | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(157): Show |
intron_variant | MODIFIER | c.3244+1290T>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 20/20 | chrX | 66264978 | ||||||
chrX:66265071
|
A | G | 3 | a0001c0002t0002g0039a0001c0002t0002g0040a0001c0002t0002g0041 | 3 | HG01884.hp1 HG02257.hp2 HG02451.hp2 |
intron_variant | MODIFIER | c.3245-1369A>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 20/20 | chrX | 66265071 | ||||||
chrX:66265272
|
T | G | 1 | a0001c0001t0001g0122 | 1 | NA19060.hp1 | intron_variant | MODIFIER | c.3245-1168T>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 20/20 | chrX | 66265272 | ||||||
chrX:66265276
|
C | T | 11 | a0001c0003t0001g0002a0001c0003t0001g0018a0001c0003t0001g0019others(8): Show | 11 | HG00735.hp1 HG01891.hp1 HG02258.hp1 others(8): Show |
intron_variant | MODIFIER | c.3245-1164C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 20/20 | chrX | 66265276 | ||||||
chrX:66265356
|
G | T | 1 | a0001c0002t0002g0070 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.3245-1084G>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 20/20 | chrX | 66265356 | ||||||
chrX:66265589
|
G | C | 130 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(127): Show | 130 | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(127): Show |
intron_variant | MODIFIER | c.3245-851G>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 20/20 | chrX | 66265589 | ||||||
chrX:66265616
|
C | G | 4 | a0001c0003t0002g0207a0001c0003t0002g0208a0001c0003t0002g0209others(1): Show | 4 | HG00738.hp1 HG01081.hp1 HG02647.hp1 others(1): Show |
intron_variant | MODIFIER | c.3245-824C>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 20/20 | chrX | 66265616 | ||||||
chrX:66265675
|
A | T | 4 | a0001c0001t0001g0161a0001c0001t0001g0162a0001c0001t0001g0163others(1): Show | 4 | HG01257.hp2 HG01258.hp1 HG01261.hp1 others(1): Show |
intron_variant | MODIFIER | c.3245-765A>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 20/20 | chrX | 66265675 | ||||||
chrX:66265904
|
A | G | 1 | a0001c0002t0001g0042 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.3245-536A>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 20/20 | chrX | 66265904 | ||||||
chrX:66266007
|
A | C | 2 | a0001c0002t0001g0042a0001c0002t0001g0215 | 2 | HG02280.hp2 HG02886.hp2 |
intron_variant | MODIFIER | c.3245-433A>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 20/20 | chrX | 66266007 | ||||||
chrX:66266128
|
C | CT | 20 | a0001c0001t0001g0116a0001c0001t0001g0196a0001c0001t0001g0200others(17): Show | 20 | HG00099.hp1 HG00609.hp1 HG01255.hp1 others(17): Show |
intron_variant | MODIFIER | c.3245-302dupT | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 20/20 | INFO_REALIGN_3_PRIME | chrX | 66266128 | |||||
chrX:66266128
|
CT | C | 2 | a0001c0002t0001g0042a0001c0002t0001g0215 | 2 | HG02280.hp2 HG02886.hp2 |
intron_variant | MODIFIER | c.3245-302delT | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 20/20 | INFO_REALIGN_3_PRIME | chrX | 66266128 | |||||
chrX:66266139
|
A | G | 1 | a0001c0014t0002g0210 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.3245-301A>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 20/20 | chrX | 66266139 | ||||||
chrX:66266323
|
G | A | 1 | a0001c0003t0001g0080 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.3245-117G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 20/20 | chrX | 66266323 | ||||||
chrX:66266330
|
C | T | 159 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(156): Show | 160 | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(157): Show |
intron_variant | MODIFIER | c.3245-110C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 20/20 | chrX | 66266330 | ||||||
chrX:66266418
|
AT | A | 3 | a0001c0001t0001g0119a0001c0001t0001g0149a0001c0014t0002g0210 | 3 | HG03834.hp1 HG04115.hp1 NA20129.hp1 |
intron_variant | MODIFIER | c.3245-12delT | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 20/20 | INFO_REALIGN_3_PRIME | chrX | 66266418 |