Search by Genic region
Multiple Alignments (by aa haplotype frequency)
Multiple Alignments (by aa haplotype similarity)
| geneid | 10075 |
|---|---|
| ensemblid | ENSG00000086758.17 |
| hgncid | 30892 |
| symbol | HUWE1 |
| name | HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 |
| refseq_nuc | NM_031407.7 |
| refseq_prot | NP_113584.3 |
| ensembl_nuc | ENST00000262854.11 |
| ensembl_prot | ENSP00000262854.6 |
| mane_status | MANE Select |
| chr | chrX |
| start | 53532096 |
| end | 53686719 |
| strand | - |
| ver | v1.2 |
| region | chrX:53532096-53686719 |
| region5000 | chrX:53527096-53691719 |
| regionname0 | HUWE1_chrX_53532096_53686719 |
| regionname5000 | HUWE1_chrX_53527096_53691719 |
| ahapid | grch38/chm13v2 | alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001 | 1/1 | 4374 | 209 | 41 | 41 | 89 | 11 | 25 | 64 | HUWE1_chrX_53527096_53691719 | HUWE1 | copy fasta | chrX | 53527096 | 53691719 |
| a0002 | 0/0 | 4374 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | copy fasta | chrX | 53527096 | 53691719 |
| a0003 | 0/0 | 2109 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | HUWE1_chrX_53527096_53691719 | HUWE1 | copy fasta | chrX | 53527096 | 53691719 |
| a0004 | 0/0 | 4374 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | copy fasta | chrX | 53527096 | 53691719 |
| a0005 | 0/0 | 2328 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | HUWE1_chrX_53527096_53691719 | HUWE1 | copy fasta | chrX | 53527096 | 53691719 |
| a0006 | 0/0 | 4374 | 1 | 0 | 0 | 0 | 0 | 1 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | copy fasta | chrX | 53527096 | 53691719 |
| chapid | grch38/chm13v2 | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| c0001 | 0/1 | 13125 | 121 | 30 | 22 | 49 | 6 | 13 | HUWE1_chrX_53527096_53691719 | HUWE1 | copy fasta | chrX | 53527096 | 53691719 |
| c0002 | 0/0 | 13125 | 54 | 2 | 17 | 19 | 5 | 11 | HUWE1_chrX_53527096_53691719 | HUWE1 | copy fasta | chrX | 53527096 | 53691719 |
| c0003 | 0/0 | 13125 | 17 | 0 | 0 | 17 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | copy fasta | chrX | 53527096 | 53691719 |
| c0004 | 0/0 | 13125 | 4 | 4 | 0 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | copy fasta | chrX | 53527096 | 53691719 |
| c0005 | 1/0 | 13125 | 2 | 1 | 0 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | copy fasta | chrX | 53527096 | 53691719 |
| c0006 | 0/0 | 13125 | 2 | 0 | 0 | 2 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | copy fasta | chrX | 53527096 | 53691719 |
| c0007 | 0/0 | 13125 | 1 | 0 | 1 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | copy fasta | chrX | 53527096 | 53691719 |
| c0008 | 0/0 | 13125 | 1 | 1 | 0 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | copy fasta | chrX | 53527096 | 53691719 |
| c0009 | 0/0 | 13125 | 1 | 1 | 0 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | copy fasta | chrX | 53527096 | 53691719 |
| c0010 | 0/0 | 13125 | 1 | 1 | 0 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | copy fasta | chrX | 53527096 | 53691719 |
| c0011 | 0/0 | 13125 | 1 | 0 | 1 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | copy fasta | chrX | 53527096 | 53691719 |
| c0012 | 0/0 | 13127 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | copy fasta | chrX | 53527096 | 53691719 |
| c0013 | 0/0 | 13125 | 1 | 0 | 1 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | copy fasta | chrX | 53527096 | 53691719 |
| c0014 | 0/0 | 13125 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | copy fasta | chrX | 53527096 | 53691719 |
| c0015 | 0/0 | 13125 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | copy fasta | chrX | 53527096 | 53691719 |
| c0016 | 0/0 | 13126 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | copy fasta | chrX | 53527096 | 53691719 |
| c0017 | 0/0 | 13125 | 1 | 0 | 0 | 0 | 0 | 1 | HUWE1_chrX_53527096_53691719 | HUWE1 | copy fasta | chrX | 53527096 | 53691719 |
| c0018 | 0/0 | 13125 | 1 | 0 | 0 | 0 | 0 | 1 | HUWE1_chrX_53527096_53691719 | HUWE1 | copy fasta | chrX | 53527096 | 53691719 |
| c0019 | 0/0 | 13125 | 1 | 1 | 0 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | copy fasta | chrX | 53527096 | 53691719 |
| c0020 | 0/0 | 13125 | 1 | 1 | 0 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | copy fasta | chrX | 53527096 | 53691719 |
| thapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| t0001 | 0/0 | 1607 | 56 | 4 | 12 | 28 | 5 | 7 | HUWE1_chrX_53527096_53691719 | HUWE1 | copy fasta | chrX | 53527096 | 53691719 |
| t0002 | 0/0 | 1618 | 55 | 3 | 10 | 28 | 3 | 11 | HUWE1_chrX_53527096_53691719 | HUWE1 | copy fasta | chrX | 53527096 | 53691719 |
| t0003 | 1/0 | 1607 | 48 | 31 | 7 | 8 | 1 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | copy fasta | chrX | 53527096 | 53691719 |
| t0004 | 0/1 | 1618 | 26 | 1 | 4 | 18 | 0 | 2 | HUWE1_chrX_53527096_53691719 | HUWE1 | copy fasta | chrX | 53527096 | 53691719 |
| t0005 | 0/0 | 1618 | 6 | 0 | 6 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | copy fasta | chrX | 53527096 | 53691719 |
| t0006 | 0/0 | 1596 | 5 | 0 | 2 | 0 | 0 | 3 | HUWE1_chrX_53527096_53691719 | HUWE1 | copy fasta | chrX | 53527096 | 53691719 |
| t0007 | 0/0 | 1629 | 4 | 0 | 0 | 3 | 0 | 1 | HUWE1_chrX_53527096_53691719 | HUWE1 | copy fasta | chrX | 53527096 | 53691719 |
| t0008 | 0/0 | 1608 | 2 | 1 | 1 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | copy fasta | chrX | 53527096 | 53691719 |
| t0009 | 0/0 | 1619 | 2 | 0 | 0 | 1 | 0 | 1 | HUWE1_chrX_53527096_53691719 | HUWE1 | copy fasta | chrX | 53527096 | 53691719 |
| t0010 | 0/0 | 1585 | 1 | 0 | 0 | 0 | 0 | 1 | HUWE1_chrX_53527096_53691719 | HUWE1 | copy fasta | chrX | 53527096 | 53691719 |
| t0011 | 0/0 | 1608 | 1 | 1 | 0 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | copy fasta | chrX | 53527096 | 53691719 |
| t0012 | 0/0 | 1608 | 1 | 0 | 0 | 0 | 1 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | copy fasta | chrX | 53527096 | 53691719 |
| t0013 | 0/0 | 1607 | 1 | 0 | 0 | 0 | 1 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | copy fasta | chrX | 53527096 | 53691719 |
| t0014 | 0/0 | 1606 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | copy fasta | chrX | 53527096 | 53691719 |
| t0015 | 0/0 | 1618 | 1 | 1 | 0 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | copy fasta | chrX | 53527096 | 53691719 |
| t0016 | 0/0 | 1619 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | copy fasta | chrX | 53527096 | 53691719 |
| t0017 | 0/0 | 1618 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | copy fasta | chrX | 53527096 | 53691719 |
| t0018 | 0/0 | 1640 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | copy fasta | chrX | 53527096 | 53691719 |
| t0019 | 0/0 | 1629 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | copy fasta | chrX | 53527096 | 53691719 |
| ghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| g0001 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| g0002 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| g0003 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| g0004 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| g0005 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| g0006 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| g0007 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| g0008 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| g0009 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| g0010 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| g0011 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| g0012 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| g0013 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| g0014 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| g0015 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| g0016 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| g0017 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| g0018 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| g0019 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| g0020 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| g0021 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| g0022 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| g0023 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| g0024 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| g0025 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| g0026 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| g0027 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| g0028 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| g0029 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| g0030 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| g0031 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| g0032 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| g0033 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| g0034 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| g0035 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| g0036 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| g0037 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| g0038 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| g0039 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| g0040 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| g0041 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| g0042 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| g0043 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| g0044 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| g0045 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| g0046 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| g0047 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| g0048 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| g0049 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| g0050 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| g0051 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| g0052 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| g0053 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| g0054 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| g0055 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| g0056 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| g0057 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| g0058 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| g0059 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| g0060 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| g0061 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| g0062 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| g0063 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| g0064 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| g0065 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| g0066 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| g0067 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| g0068 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| g0069 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| g0070 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| g0071 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| g0072 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| g0073 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| g0074 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| g0075 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| g0076 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| g0077 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| g0078 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| g0079 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| g0080 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| g0081 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| g0082 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| g0083 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| g0084 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| g0085 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| g0086 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| g0087 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| g0088 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| g0089 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| g0090 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| g0091 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| g0092 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| g0093 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| g0094 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| g0095 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| g0096 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| g0097 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| g0098 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| g0099 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| g0100 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| g0101 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| g0102 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| g0103 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| g0104 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| g0105 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| g0106 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| g0107 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| g0108 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| g0109 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| g0110 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| g0111 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| g0112 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| g0113 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| g0114 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| g0115 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| g0116 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| g0117 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| g0118 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| g0119 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| g0120 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| g0121 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| g0122 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| g0123 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| g0124 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| g0125 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| g0126 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| g0127 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| g0128 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| g0129 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| g0130 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| g0131 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| g0132 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| g0133 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| g0134 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| g0135 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| g0136 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| g0137 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| g0138 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| g0139 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| g0140 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| g0141 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| g0142 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| g0143 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| g0144 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| g0145 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| g0146 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| g0147 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| g0148 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| g0149 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| g0150 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| g0151 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| g0152 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| g0153 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| g0154 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| g0155 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| g0156 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| g0157 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| g0158 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| g0159 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| g0160 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| g0161 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| g0162 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| g0163 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| g0164 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| g0165 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| g0166 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| g0167 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| g0168 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| g0169 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| g0170 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| g0171 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| g0172 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| g0173 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| g0174 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| g0175 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| g0176 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| g0177 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| g0178 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| g0179 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| g0180 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| g0181 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| g0182 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| g0183 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| g0184 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| g0185 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| g0186 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| g0187 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| g0188 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| g0189 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| g0190 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| g0191 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| g0192 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| g0193 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| g0194 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| g0195 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| g0196 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| g0197 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| g0198 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| g0199 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| g0200 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| g0201 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| g0202 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| g0203 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| g0204 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| g0205 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| g0206 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| g0207 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| g0208 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| g0209 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| g0210 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| g0211 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| g0212 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| g0213 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| achapid | grch38/chm13v2 | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001 | 0/1 | 13125 | 121 | 30 | 22 | 49 | 6 | 13 | HUWE1_chrX_53527096_53691719 | HUWE1 | copy fasta | chrX | 53527096 | 53691719 |
| a0001c0002 | 0/0 | 13125 | 54 | 2 | 17 | 19 | 5 | 11 | HUWE1_chrX_53527096_53691719 | HUWE1 | copy fasta | chrX | 53527096 | 53691719 |
| a0001c0003 | 0/0 | 13125 | 17 | 0 | 0 | 17 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | copy fasta | chrX | 53527096 | 53691719 |
| a0001c0004 | 0/0 | 13125 | 4 | 4 | 0 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | copy fasta | chrX | 53527096 | 53691719 |
| a0001c0005 | 1/0 | 13125 | 2 | 1 | 0 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | copy fasta | chrX | 53527096 | 53691719 |
| a0001c0006 | 0/0 | 13125 | 2 | 0 | 0 | 2 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | copy fasta | chrX | 53527096 | 53691719 |
| a0001c0007 | 0/0 | 13125 | 1 | 0 | 1 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | copy fasta | chrX | 53527096 | 53691719 |
| a0001c0008 | 0/0 | 13125 | 1 | 1 | 0 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | copy fasta | chrX | 53527096 | 53691719 |
| a0001c0009 | 0/0 | 13125 | 1 | 1 | 0 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | copy fasta | chrX | 53527096 | 53691719 |
| a0001c0013 | 0/0 | 13125 | 1 | 0 | 1 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | copy fasta | chrX | 53527096 | 53691719 |
| a0001c0014 | 0/0 | 13125 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | copy fasta | chrX | 53527096 | 53691719 |
| a0001c0015 | 0/0 | 13125 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | copy fasta | chrX | 53527096 | 53691719 |
| a0001c0017 | 0/0 | 13125 | 1 | 0 | 0 | 0 | 0 | 1 | HUWE1_chrX_53527096_53691719 | HUWE1 | copy fasta | chrX | 53527096 | 53691719 |
| a0001c0019 | 0/0 | 13125 | 1 | 1 | 0 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | copy fasta | chrX | 53527096 | 53691719 |
| a0001c0020 | 0/0 | 13125 | 1 | 1 | 0 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | copy fasta | chrX | 53527096 | 53691719 |
| a0002c0011 | 0/0 | 13125 | 1 | 0 | 1 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | copy fasta | chrX | 53527096 | 53691719 |
| a0003c0016 | 0/0 | 13126 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | copy fasta | chrX | 53527096 | 53691719 |
| a0004c0010 | 0/0 | 13125 | 1 | 1 | 0 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | copy fasta | chrX | 53527096 | 53691719 |
| a0005c0012 | 0/0 | 13127 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | copy fasta | chrX | 53527096 | 53691719 |
| a0006c0018 | 0/0 | 13125 | 1 | 0 | 0 | 0 | 0 | 1 | HUWE1_chrX_53527096_53691719 | HUWE1 | copy fasta | chrX | 53527096 | 53691719 |
| acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001 | 0/0 | 14731 | 49 | 3 | 8 | 26 | 5 | 7 | HUWE1_chrX_53527096_53691719 | HUWE1 | copy fasta | chrX | 53527096 | 53691719 |
| a0001c0001t0002 | 0/0 | 14742 | 5 | 2 | 1 | 2 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | copy fasta | chrX | 53527096 | 53691719 |
| a0001c0001t0003 | 0/0 | 14731 | 31 | 23 | 6 | 1 | 1 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | copy fasta | chrX | 53527096 | 53691719 |
| a0001c0001t0004 | 0/1 | 14742 | 25 | 0 | 4 | 18 | 0 | 2 | HUWE1_chrX_53527096_53691719 | HUWE1 | copy fasta | chrX | 53527096 | 53691719 |
| a0001c0001t0006 | 0/0 | 14720 | 5 | 0 | 2 | 0 | 0 | 3 | HUWE1_chrX_53527096_53691719 | HUWE1 | copy fasta | chrX | 53527096 | 53691719 |
| a0001c0001t0008 | 0/0 | 14732 | 1 | 0 | 1 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | copy fasta | chrX | 53527096 | 53691719 |
| a0001c0001t0010 | 0/0 | 14709 | 1 | 0 | 0 | 0 | 0 | 1 | HUWE1_chrX_53527096_53691719 | HUWE1 | copy fasta | chrX | 53527096 | 53691719 |
| a0001c0001t0011 | 0/0 | 14732 | 1 | 1 | 0 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | copy fasta | chrX | 53527096 | 53691719 |
| a0001c0001t0014 | 0/0 | 14730 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | copy fasta | chrX | 53527096 | 53691719 |
| a0001c0001t0015 | 0/0 | 14742 | 1 | 1 | 0 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | copy fasta | chrX | 53527096 | 53691719 |
| a0001c0001t0018 | 0/0 | 14764 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | copy fasta | chrX | 53527096 | 53691719 |
| a0001c0002t0001 | 0/0 | 14731 | 1 | 0 | 1 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | copy fasta | chrX | 53527096 | 53691719 |
| a0001c0002t0002 | 0/0 | 14742 | 30 | 1 | 9 | 7 | 3 | 10 | HUWE1_chrX_53527096_53691719 | HUWE1 | copy fasta | chrX | 53527096 | 53691719 |
| a0001c0002t0003 | 0/0 | 14731 | 9 | 1 | 1 | 7 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | copy fasta | chrX | 53527096 | 53691719 |
| a0001c0002t0005 | 0/0 | 14742 | 6 | 0 | 6 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | copy fasta | chrX | 53527096 | 53691719 |
| a0001c0002t0007 | 0/0 | 14753 | 3 | 0 | 0 | 3 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | copy fasta | chrX | 53527096 | 53691719 |
| a0001c0002t0009 | 0/0 | 14743 | 2 | 0 | 0 | 1 | 0 | 1 | HUWE1_chrX_53527096_53691719 | HUWE1 | copy fasta | chrX | 53527096 | 53691719 |
| a0001c0002t0012 | 0/0 | 14732 | 1 | 0 | 0 | 0 | 1 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | copy fasta | chrX | 53527096 | 53691719 |
| a0001c0002t0013 | 0/0 | 14731 | 1 | 0 | 0 | 0 | 1 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | copy fasta | chrX | 53527096 | 53691719 |
| a0001c0002t0017 | 0/0 | 14742 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | copy fasta | chrX | 53527096 | 53691719 |
| a0001c0003t0001 | 0/0 | 14731 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | copy fasta | chrX | 53527096 | 53691719 |
| a0001c0003t0002 | 0/0 | 14742 | 15 | 0 | 0 | 15 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | copy fasta | chrX | 53527096 | 53691719 |
| a0001c0003t0019 | 0/0 | 14753 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | copy fasta | chrX | 53527096 | 53691719 |
| a0001c0004t0003 | 0/0 | 14731 | 4 | 4 | 0 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | copy fasta | chrX | 53527096 | 53691719 |
| a0001c0005t0003 | 1/0 | 14731 | 1 | 0 | 0 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | copy fasta | chrX | 53527096 | 53691719 |
| a0001c0005t0008 | 0/0 | 14732 | 1 | 1 | 0 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | copy fasta | chrX | 53527096 | 53691719 |
| a0001c0006t0001 | 0/0 | 14731 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | copy fasta | chrX | 53527096 | 53691719 |
| a0001c0006t0002 | 0/0 | 14742 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | copy fasta | chrX | 53527096 | 53691719 |
| a0001c0007t0001 | 0/0 | 14731 | 1 | 0 | 1 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | copy fasta | chrX | 53527096 | 53691719 |
| a0001c0008t0004 | 0/0 | 14742 | 1 | 1 | 0 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | copy fasta | chrX | 53527096 | 53691719 |
| a0001c0009t0001 | 0/0 | 14731 | 1 | 1 | 0 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | copy fasta | chrX | 53527096 | 53691719 |
| a0001c0013t0001 | 0/0 | 14731 | 1 | 0 | 1 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | copy fasta | chrX | 53527096 | 53691719 |
| a0001c0014t0002 | 0/0 | 14742 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | copy fasta | chrX | 53527096 | 53691719 |
| a0001c0015t0002 | 0/0 | 14742 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | copy fasta | chrX | 53527096 | 53691719 |
| a0001c0017t0007 | 0/0 | 14753 | 1 | 0 | 0 | 0 | 0 | 1 | HUWE1_chrX_53527096_53691719 | HUWE1 | copy fasta | chrX | 53527096 | 53691719 |
| a0001c0019t0003 | 0/0 | 14731 | 1 | 1 | 0 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | copy fasta | chrX | 53527096 | 53691719 |
| a0001c0020t0003 | 0/0 | 14731 | 1 | 1 | 0 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | copy fasta | chrX | 53527096 | 53691719 |
| a0002c0011t0001 | 0/0 | 14731 | 1 | 0 | 1 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | copy fasta | chrX | 53527096 | 53691719 |
| a0003c0016t0002 | 0/0 | 14743 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | copy fasta | chrX | 53527096 | 53691719 |
| a0004c0010t0003 | 0/0 | 14731 | 1 | 1 | 0 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | copy fasta | chrX | 53527096 | 53691719 |
| a0005c0012t0016 | 0/0 | 14745 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | copy fasta | chrX | 53527096 | 53691719 |
| a0006c0018t0002 | 0/0 | 14742 | 1 | 0 | 0 | 0 | 0 | 1 | HUWE1_chrX_53527096_53691719 | HUWE1 | copy fasta | chrX | 53527096 | 53691719 |
| actghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001g0063 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0001t0001g0064 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0001t0001g0069 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0001t0001g0070 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0001t0001g0071 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0001t0001g0072 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0001t0001g0073 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0001t0001g0074 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0001t0001g0075 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0001t0001g0076 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0001t0001g0078 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0001t0001g0079 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0001t0001g0080 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0001t0001g0081 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0001t0001g0082 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0001t0001g0083 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0001t0001g0084 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0001t0001g0085 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0001t0001g0086 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0001t0001g0087 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0001t0001g0088 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0001t0001g0089 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0001t0001g0090 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0001t0001g0091 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0001t0001g0092 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0001t0001g0093 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0001t0001g0094 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0001t0001g0095 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0001t0001g0096 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0001t0001g0097 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0001t0001g0098 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0001t0001g0099 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0001t0001g0100 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0001t0001g0101 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0001t0001g0102 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0001t0001g0103 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0001t0001g0104 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0001t0001g0105 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0001t0001g0106 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0001t0001g0107 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0001t0001g0110 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0001t0001g0111 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0001t0001g0112 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0001t0001g0113 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0001t0001g0114 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0001t0001g0115 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0001t0001g0116 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0001t0001g0117 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0001t0001g0118 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0001t0002g0149 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0001t0002g0172 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0001t0002g0177 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0001t0002g0178 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0001t0002g0179 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0001t0003g0016 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0001t0003g0017 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0001t0003g0026 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0001t0003g0031 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0001t0003g0032 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0001t0003g0033 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0001t0003g0035 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0001t0003g0036 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0001t0003g0037 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0001t0003g0038 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0001t0003g0039 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0001t0003g0040 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0001t0003g0041 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0001t0003g0042 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0001t0003g0043 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0001t0003g0044 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0001t0003g0045 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0001t0003g0046 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0001t0003g0047 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0001t0003g0049 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0001t0003g0050 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0001t0003g0051 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0001t0003g0052 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0001t0003g0053 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0001t0003g0054 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0001t0003g0055 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0001t0003g0056 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0001t0003g0057 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0001t0003g0058 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0001t0003g0059 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0001t0003g0060 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0001t0004g0001 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0001t0004g0185 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0001t0004g0186 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0001t0004g0187 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0001t0004g0188 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0001t0004g0189 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0001t0004g0190 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0001t0004g0191 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0001t0004g0192 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0001t0004g0193 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0001t0004g0194 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0001t0004g0195 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0001t0004g0196 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0001t0004g0197 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0001t0004g0198 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0001t0004g0199 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0001t0004g0200 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0001t0004g0201 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0001t0004g0202 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0001t0004g0203 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0001t0004g0204 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0001t0004g0205 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0001t0004g0206 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0001t0004g0207 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0001t0006g0003 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0001t0006g0004 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0001t0006g0005 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0001t0006g0006 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0001t0006g0007 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0001t0008g0048 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0001t0010g0002 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0001t0011g0008 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0001t0014g0034 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0001t0015g0062 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0001t0018g0184 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0002t0001g0065 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0002t0002g0123 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0002t0002g0126 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0002t0002g0127 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0002t0002g0128 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0002t0002g0129 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0002t0002g0131 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0002t0002g0133 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0002t0002g0134 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0002t0002g0135 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0002t0002g0136 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0002t0002g0141 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0002t0002g0142 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0002t0002g0145 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0002t0002g0147 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0002t0002g0150 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0002t0002g0152 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0002t0002g0155 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0002t0002g0156 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0002t0002g0159 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0002t0002g0160 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0002t0002g0161 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0002t0002g0165 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0002t0002g0166 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0002t0002g0167 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0002t0002g0168 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0002t0002g0174 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0002t0002g0175 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0002t0002g0176 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0002t0002g0182 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0002t0002g0183 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0002t0003g0009 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0002t0003g0015 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0002t0003g0018 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0002t0003g0019 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0002t0003g0021 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0002t0003g0022 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0002t0003g0023 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0002t0003g0024 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0002t0003g0025 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0002t0005g0120 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0002t0005g0121 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0002t0005g0122 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0002t0005g0139 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0002t0005g0153 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0002t0005g0180 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0002t0007g0209 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0002t0007g0210 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0002t0007g0211 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0002t0009g0124 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0002t0009g0169 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0002t0012g0020 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0002t0013g0014 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0002t0017g0138 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0003t0001g0068 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0003t0002g0125 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0003t0002g0132 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0003t0002g0137 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0003t0002g0140 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0003t0002g0143 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0003t0002g0144 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0003t0002g0146 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0003t0002g0151 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0003t0002g0154 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0003t0002g0157 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0003t0002g0162 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0003t0002g0163 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0003t0002g0164 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0003t0002g0170 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0003t0002g0173 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0003t0019g0213 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0004t0003g0010 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0004t0003g0011 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0004t0003g0012 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0004t0003g0013 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0005t0003g0028 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0005t0008g0027 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0006t0001g0067 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0006t0002g0148 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0007t0001g0108 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0008t0004g0208 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0009t0001g0077 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0013t0001g0066 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0014t0002g0158 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0015t0002g0130 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0017t0007g0212 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0019t0003g0029 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0020t0003g0030 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0002c0011t0001g0109 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0003c0016t0002g0119 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0004c0010t0003g0061 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0005c0012t0016g0181 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0006c0018t0002g0171 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| HG00099 | hp1 | a0001 | c0001 | t0001 | g0100 | EUR | GBR | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG00099 | hp2 | a0001 | c0002 | t0013 | g0014 | EUR | GBR | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG00140 | hp1 | a0001 | c0002 | t0002 | g0145 | EUR | GBR | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG00280 | hp1 | a0001 | c0002 | t0002 | g0156 | EUR | FIN | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG00323 | hp1 | a0001 | c0002 | t0002 | g0127 | EUR | FIN | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG00323 | hp2 | a0001 | c0001 | t0003 | g0052 | EUR | FIN | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG00438 | hp1 | a0001 | c0001 | t0001 | g0074 | EAS | CHS | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG00438 | hp2 | a0001 | c0002 | t0002 | g0155 | EAS | CHS | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG00544 | hp1 | a0001 | c0001 | t0001 | g0069 | EAS | CHS | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG00544 | hp2 | a0001 | c0003 | t0002 | g0125 | EAS | CHS | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG00558 | hp1 | a0001 | c0001 | t0002 | g0149 | EAS | CHS | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG00558 | hp2 | a0001 | c0006 | t0002 | g0148 | EAS | CHS | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG00597 | hp1 | a0001 | c0001 | t0004 | g0198 | EAS | CHS | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG00597 | hp2 | a0001 | c0002 | t0007 | g0209 | EAS | CHS | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG00609 | hp1 | a0001 | c0001 | t0001 | g0073 | EAS | CHS | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG00621 | hp1 | a0001 | c0002 | t0003 | g0021 | EAS | CHS | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG00642 | hp1 | a0001 | c0002 | t0002 | g0128 | AMR | PUR | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG00673 | hp1 | a0001 | c0002 | t0017 | g0138 | EAS | CHS | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG00733 | hp1 | a0001 | c0001 | t0004 | g0202 | AMR | PUR | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG00733 | hp2 | a0001 | c0002 | t0005 | g0153 | AMR | PUR | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG00735 | hp1 | a0001 | c0001 | t0001 | g0118 | AMR | PUR | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG00735 | hp2 | a0001 | c0001 | t0003 | g0053 | AMR | PUR | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG00738 | hp1 | a0001 | c0001 | t0003 | g0016 | AMR | PUR | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG00741 | hp1 | a0001 | c0001 | t0001 | g0114 | AMR | PUR | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG00741 | hp2 | a0001 | c0013 | t0001 | g0066 | AMR | PUR | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG01069 | hp1 | a0001 | c0001 | t0006 | g0005 | AMR | PUR | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG01071 | hp1 | a0001 | c0001 | t0006 | g0006 | AMR | PUR | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG01071 | hp2 | a0001 | c0002 | t0002 | g0160 | AMR | PUR | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG01074 | hp1 | a0001 | c0002 | t0002 | g0133 | AMR | PUR | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG01081 | hp1 | a0001 | c0001 | t0001 | g0095 | AMR | PUR | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG01081 | hp2 | a0001 | c0001 | t0002 | g0177 | AMR | PUR | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG01099 | hp1 | a0001 | c0002 | t0002 | g0126 | AMR | PUR | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG01106 | hp1 | a0001 | c0001 | t0004 | g0203 | AMR | PUR | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG01109 | hp1 | a0001 | c0002 | t0002 | g0182 | AMR | PUR | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG01167 | hp1 | a0001 | c0001 | t0003 | g0033 | AMR | PUR | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG01169 | hp1 | a0001 | c0002 | t0005 | g0139 | AMR | PUR | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG01169 | hp2 | a0001 | c0001 | t0008 | g0048 | AMR | PUR | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG01192 | hp1 | a0001 | c0007 | t0001 | g0108 | AMR | PUR | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG01243 | hp1 | a0001 | c0001 | t0003 | g0058 | AMR | PUR | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG01255 | hp1 | a0001 | c0001 | t0003 | g0041 | AMR | CLM | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG01256 | hp1 | a0001 | c0002 | t0001 | g0065 | AMR | CLM | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG01258 | hp1 | a0001 | c0001 | t0001 | g0096 | AMR | CLM | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG01261 | hp1 | a0001 | c0002 | t0003 | g0015 | AMR | CLM | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG01358 | hp1 | a0001 | c0001 | t0001 | g0106 | AMR | CLM | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG01433 | hp1 | a0001 | c0001 | t0001 | g0113 | AMR | CLM | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG01496 | hp1 | a0001 | c0001 | t0001 | g0116 | AMR | CLM | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG01496 | hp2 | a0001 | c0002 | t0002 | g0161 | AMR | CLM | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG01515 | hp1 | a0001 | c0001 | t0001 | g0102 | EUR | IBS | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG01517 | hp1 | a0001 | c0002 | t0012 | g0020 | EUR | IBS | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG01517 | hp2 | a0001 | c0001 | t0001 | g0101 | EUR | IBS | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG01884 | hp1 | a0001 | c0020 | t0003 | g0030 | AFR | ACB | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG01884 | hp2 | a0001 | c0001 | t0003 | g0036 | AFR | ACB | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG01928 | hp1 | a0001 | c0002 | t0005 | g0120 | AMR | PEL | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG01934 | hp1 | a0001 | c0001 | t0003 | g0056 | AMR | PEL | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG01943 | hp1 | a0001 | c0002 | t0002 | g0147 | AMR | PEL | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG01952 | hp1 | a0002 | c0011 | t0001 | g0109 | AMR | PEL | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG01978 | hp1 | a0001 | c0001 | t0004 | g0190 | AMR | PEL | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG01978 | hp2 | a0001 | c0002 | t0005 | g0122 | AMR | PEL | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG01981 | hp1 | a0001 | c0002 | t0005 | g0180 | AMR | PEL | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG01981 | hp2 | a0001 | c0001 | t0001 | g0094 | AMR | PEL | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG02004 | hp1 | a0001 | c0002 | t0005 | g0121 | AMR | PEL | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG02004 | hp2 | a0001 | c0002 | t0002 | g0167 | AMR | PEL | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG02015 | hp1 | a0001 | c0001 | t0001 | g0091 | EAS | KHV | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG02027 | hp1 | a0001 | c0003 | t0002 | g0157 | EAS | KHV | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG02040 | hp1 | a0001 | c0001 | t0018 | g0184 | EAS | KHV | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG02055 | hp1 | a0001 | c0001 | t0015 | g0062 | AFR | ACB | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG02056 | hp1 | a0001 | c0001 | t0001 | g0112 | EAS | KHV | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG02071 | hp1 | a0001 | c0002 | t0007 | g0210 | EAS | KHV | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG02074 | hp1 | a0001 | c0014 | t0002 | g0158 | EAS | KHV | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG02080 | hp1 | a0001 | c0001 | t0004 | g0186 | EAS | KHV | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG02080 | hp2 | a0001 | c0003 | t0002 | g0162 | EAS | KHV | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG02083 | hp1 | a0001 | c0001 | t0003 | g0035 | EAS | KHV | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG02129 | hp1 | a0001 | c0003 | t0002 | g0151 | EAS | KHV | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG02132 | hp1 | a0001 | c0003 | t0002 | g0137 | EAS | KHV | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG02135 | hp1 | a0001 | c0002 | t0002 | g0183 | EAS | KHV | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG02145 | hp1 | a0001 | c0004 | t0003 | g0012 | AFR | ACB | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG02148 | hp1 | a0001 | c0001 | t0004 | g0206 | AMR | PEL | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG02148 | hp2 | a0001 | c0002 | t0002 | g0159 | AMR | PEL | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG02258 | hp1 | a0001 | c0001 | t0003 | g0051 | AFR | ACB | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG02572 | hp1 | a0001 | c0001 | t0003 | g0045 | AFR | GWD | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG02602 | hp1 | a0001 | c0001 | t0010 | g0002 | SAS | PJL | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG02615 | hp1 | a0001 | c0001 | t0001 | g0082 | AFR | GWD | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG02615 | hp2 | a0001 | c0001 | t0003 | g0057 | AFR | GWD | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG02622 | hp1 | a0001 | c0008 | t0004 | g0208 | AFR | GWD | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG02622 | hp2 | a0001 | c0001 | t0003 | g0044 | AFR | GWD | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG02647 | hp1 | a0001 | c0002 | t0003 | g0025 | AFR | GWD | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG02698 | hp1 | a0001 | c0002 | t0002 | g0176 | SAS | PJL | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG02717 | hp1 | a0001 | c0001 | t0003 | g0054 | AFR | GWD | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG02735 | hp1 | a0001 | c0001 | t0006 | g0003 | SAS | PJL | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG02738 | hp1 | a0001 | c0002 | t0009 | g0169 | SAS | PJL | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG02809 | hp1 | a0001 | c0004 | t0003 | g0011 | AFR | GWD | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG02809 | hp2 | a0001 | c0001 | t0003 | g0043 | AFR | GWD | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG02895 | hp1 | a0001 | c0001 | t0003 | g0031 | AFR | GWD | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG02965 | hp1 | a0001 | c0001 | t0003 | g0040 | AFR | ESN | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG03017 | hp1 | a0001 | c0001 | t0001 | g0070 | SAS | PJL | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG03041 | hp1 | a0001 | c0001 | t0003 | g0059 | AFR | GWD | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG03041 | hp2 | a0001 | c0004 | t0003 | g0013 | AFR | GWD | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG03098 | hp1 | a0001 | c0001 | t0003 | g0060 | AFR | MSL | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG03130 | hp1 | a0001 | c0001 | t0003 | g0042 | AFR | ESN | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG03139 | hp1 | a0001 | c0009 | t0001 | g0077 | AFR | ESN | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG03209 | hp1 | a0001 | c0001 | t0003 | g0055 | AFR | MSL | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG03225 | hp1 | a0001 | c0001 | t0003 | g0032 | AFR | MSL | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG03239 | hp1 | a0001 | c0002 | t0002 | g0134 | SAS | PJL | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG03239 | hp2 | a0001 | c0001 | t0001 | g0085 | SAS | PJL | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG03453 | hp1 | a0001 | c0001 | t0001 | g0098 | AFR | MSL | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG03453 | hp2 | a0001 | c0001 | t0003 | g0047 | AFR | MSL | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG03490 | hp1 | a0001 | c0002 | t0002 | g0135 | SAS | PJL | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG03491 | hp1 | a0001 | c0001 | t0001 | g0071 | SAS | PJL | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG03491 | hp2 | a0001 | c0002 | t0002 | g0165 | SAS | PJL | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG03492 | hp1 | a0001 | c0002 | t0002 | g0136 | SAS | PJL | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG03516 | hp1 | a0001 | c0005 | t0008 | g0027 | AFR | ESN | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG03516 | hp2 | a0001 | c0001 | t0003 | g0046 | AFR | ESN | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG03579 | hp1 | a0001 | c0004 | t0003 | g0010 | AFR | MSL | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG03654 | hp1 | a0001 | c0002 | t0002 | g0141 | SAS | PJL | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG03688 | hp1 | a0001 | c0001 | t0006 | g0007 | SAS | STU | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG03704 | hp1 | a0001 | c0001 | t0001 | g0083 | SAS | PJL | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG03704 | hp2 | a0001 | c0002 | t0002 | g0142 | SAS | PJL | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG03710 | hp1 | a0001 | c0001 | t0001 | g0110 | SAS | PJL | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG03831 | hp1 | a0006 | c0018 | t0002 | g0171 | SAS | BEB | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG03831 | hp2 | a0001 | c0001 | t0001 | g0086 | SAS | BEB | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG03942 | hp1 | a0001 | c0001 | t0004 | g0204 | SAS | BEB | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG04115 | hp1 | a0001 | c0002 | t0002 | g0150 | SAS | STU | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG04184 | hp1 | a0001 | c0017 | t0007 | g0212 | SAS | BEB | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG04184 | hp2 | a0001 | c0001 | t0006 | g0004 | SAS | BEB | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG04199 | hp1 | a0001 | c0001 | t0001 | g0111 | SAS | STU | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG04204 | hp1 | a0001 | c0001 | t0004 | g0201 | SAS | STU | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG04228 | hp1 | a0001 | c0002 | t0002 | g0175 | SAS | STU | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| NA18522 | hp1 | a0001 | c0001 | t0003 | g0017 | AFR | YRI | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| NA18612 | hp1 | a0001 | c0001 | t0001 | g0090 | EAS | CHB | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| NA18747 | hp1 | a0001 | c0003 | t0002 | g0154 | EAS | CHB | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| NA18906 | hp1 | a0001 | c0001 | t0002 | g0178 | AFR | YRI | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| NA18906 | hp2 | a0004 | c0010 | t0003 | g0061 | AFR | YRI | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| NA18940 | hp1 | a0001 | c0003 | t0001 | g0068 | EAS | JPT | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| NA18942 | hp1 | a0001 | c0002 | t0002 | g0123 | EAS | JPT | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| NA18942 | hp2 | a0001 | c0001 | t0004 | g0187 | EAS | JPT | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| NA18943 | hp1 | a0001 | c0001 | t0004 | g0191 | EAS | JPT | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| NA18944 | hp1 | a0001 | c0001 | t0001 | g0079 | EAS | JPT | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| NA18945 | hp1 | a0001 | c0001 | t0004 | g0194 | EAS | JPT | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| NA18946 | hp1 | a0001 | c0001 | t0001 | g0099 | EAS | JPT | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| NA18946 | hp2 | a0001 | c0002 | t0003 | g0019 | EAS | JPT | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| NA18948 | hp1 | a0001 | c0001 | t0001 | g0078 | EAS | JPT | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| NA18949 | hp1 | a0001 | c0002 | t0009 | g0124 | EAS | JPT | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| NA18949 | hp2 | a0001 | c0001 | t0001 | g0115 | EAS | JPT | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| NA18952 | hp1 | a0001 | c0002 | t0003 | g0024 | EAS | JPT | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| NA18953 | hp1 | a0001 | c0001 | t0004 | g0195 | EAS | JPT | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| NA18957 | hp1 | a0001 | c0003 | t0002 | g0143 | EAS | JPT | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| NA18957 | hp2 | a0001 | c0001 | t0004 | g0192 | EAS | JPT | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| NA18959 | hp1 | a0001 | c0002 | t0002 | g0168 | EAS | JPT | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| NA18960 | hp1 | a0001 | c0003 | t0002 | g0146 | EAS | JPT | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| NA18961 | hp1 | a0001 | c0015 | t0002 | g0130 | EAS | JPT | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| NA18962 | hp1 | a0001 | c0001 | t0001 | g0084 | EAS | JPT | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| NA18966 | hp1 | a0001 | c0001 | t0004 | g0197 | EAS | JPT | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| NA18967 | hp1 | a0001 | c0001 | t0001 | g0081 | EAS | JPT | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| NA18970 | hp1 | a0001 | c0001 | t0001 | g0087 | EAS | JPT | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| NA18971 | hp1 | a0001 | c0001 | t0001 | g0097 | EAS | JPT | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| NA18974 | hp1 | a0005 | c0012 | t0016 | g0181 | EAS | JPT | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| NA18977 | hp1 | a0001 | c0003 | t0002 | g0140 | EAS | JPT | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| NA18982 | hp1 | a0001 | c0002 | t0003 | g0018 | EAS | JPT | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| NA18983 | hp1 | a0001 | c0003 | t0002 | g0132 | EAS | JPT | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| NA18984 | hp1 | a0001 | c0001 | t0004 | g0189 | EAS | JPT | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| NA18985 | hp1 | a0001 | c0003 | t0002 | g0170 | EAS | JPT | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| NA18986 | hp1 | a0001 | c0001 | t0014 | g0034 | EAS | JPT | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| NA18989 | hp1 | a0001 | c0001 | t0001 | g0076 | EAS | JPT | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| NA18990 | hp1 | a0001 | c0001 | t0001 | g0093 | EAS | JPT | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| NA18993 | hp1 | a0001 | c0001 | t0002 | g0172 | EAS | JPT | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| NA18993 | hp2 | a0001 | c0003 | t0019 | g0213 | EAS | JPT | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| NA18994 | hp1 | a0001 | c0001 | t0001 | g0107 | EAS | JPT | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| NA18995 | hp1 | a0001 | c0001 | t0004 | g0193 | EAS | JPT | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| NA19000 | hp1 | a0001 | c0001 | t0001 | g0075 | EAS | JPT | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| NA19004 | hp1 | a0001 | c0001 | t0004 | g0001 | EAS | JPT | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| NA19005 | hp1 | a0001 | c0001 | t0001 | g0088 | EAS | JPT | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| NA19007 | hp1 | a0001 | c0003 | t0002 | g0144 | EAS | JPT | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| NA19009 | hp1 | a0001 | c0003 | t0002 | g0164 | EAS | JPT | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| NA19012 | hp1 | a0001 | c0001 | t0004 | g0196 | EAS | JPT | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| NA19030 | hp1 | a0001 | c0001 | t0011 | g0008 | AFR | LWK | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| NA19030 | hp2 | a0001 | c0001 | t0002 | g0179 | AFR | LWK | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| NA19043 | hp1 | a0001 | c0001 | t0003 | g0026 | AFR | LWK | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| NA19055 | hp1 | a0001 | c0002 | t0003 | g0009 | EAS | JPT | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| NA19056 | hp1 | a0001 | c0001 | t0001 | g0117 | EAS | JPT | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| NA19058 | hp1 | a0001 | c0001 | t0004 | g0188 | EAS | JPT | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| NA19060 | hp1 | a0001 | c0006 | t0001 | g0067 | EAS | JPT | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| NA19063 | hp1 | a0001 | c0002 | t0002 | g0131 | EAS | JPT | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| NA19066 | hp1 | a0001 | c0003 | t0002 | g0163 | EAS | JPT | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| NA19067 | hp1 | a0001 | c0001 | t0004 | g0207 | EAS | JPT | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| NA19068 | hp1 | a0001 | c0002 | t0002 | g0129 | EAS | JPT | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| NA19070 | hp1 | a0001 | c0001 | t0004 | g0001 | EAS | JPT | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| NA19072 | hp1 | a0001 | c0001 | t0001 | g0089 | EAS | JPT | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| NA19075 | hp1 | a0001 | c0001 | t0001 | g0064 | EAS | JPT | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| NA19076 | hp1 | a0001 | c0001 | t0004 | g0185 | EAS | JPT | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| NA19079 | hp1 | a0001 | c0001 | t0001 | g0104 | EAS | JPT | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| NA19082 | hp1 | a0001 | c0002 | t0007 | g0211 | EAS | JPT | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| NA19083 | hp1 | a0003 | c0016 | t0002 | g0119 | EAS | JPT | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| NA19084 | hp1 | a0001 | c0003 | t0002 | g0173 | EAS | JPT | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| NA19084 | hp2 | a0001 | c0001 | t0004 | g0199 | EAS | JPT | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| NA19085 | hp1 | a0001 | c0002 | t0003 | g0023 | EAS | JPT | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| NA19086 | hp1 | a0001 | c0001 | t0001 | g0105 | EAS | JPT | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| NA19087 | hp1 | a0001 | c0001 | t0001 | g0103 | EAS | JPT | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| NA19087 | hp2 | a0001 | c0002 | t0003 | g0022 | EAS | JPT | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| NA19088 | hp1 | a0001 | c0001 | t0004 | g0200 | EAS | JPT | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| NA19091 | hp1 | a0001 | c0001 | t0001 | g0080 | EAS | JPT | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| NA20129 | hp1 | a0001 | c0001 | t0003 | g0038 | AFR | ASW | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| NA20129 | hp2 | a0001 | c0002 | t0002 | g0166 | AFR | ASW | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| NA20752 | hp1 | a0001 | c0001 | t0001 | g0072 | EUR | TSI | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| NA20805 | hp1 | a0001 | c0001 | t0001 | g0063 | EUR | TSI | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| NA20905 | hp1 | a0001 | c0002 | t0002 | g0152 | SAS | GIH | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG02486 | hp1 | a0001 | c0001 | t0003 | g0039 | AFR | ACB | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG02559 | hp1 | a0001 | c0019 | t0003 | g0029 | AFR | ACB | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG02559 | hp2 | a0001 | c0001 | t0003 | g0050 | AFR | ACB | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG03471 | hp1 | a0001 | c0001 | t0003 | g0037 | AFR | MSL | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| NA18955 | hp1 | a0001 | c0002 | t0002 | g0174 | EAS | JPT | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| NA21309 | hp1 | a0001 | c0001 | t0003 | g0049 | AFR | LWK | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| NA21309 | hp2 | a0001 | c0001 | t0001 | g0092 | AFR | LWK | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| homoSapiens_chm13v2 | hp1 | a0001 | c0001 | t0004 | g0205 | REF | REF | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| homoSapiens_grch38 | hp1 | a0001 | c0005 | t0003 | g0028 | REF | REF | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| 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:53549069
|
G | GC | 1 | a0003 | 1 | NA19083.hp1 | frameshift_variant | HIGH | c.9924dupG | p.Arg3309fs | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 67/84 | 10317/14731 | 9924/13125 | 3308/4374 | chrX | 53549069 | ||
| chrX:53549389
|
G | C | 1 | a0004 | 1 | NA18906.hp2 | missense_variant | MODERATE | c.9605C>G | p.Thr3202Ser | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 67/84 | 9998/14731 | 9605/13125 | 3202/4374 | chrX | 53549389 | ||
| chrX:53559363
|
T | TGG | 1 | a0005 | 1 | NA18974.hp1 | frameshift_variant | HIGH | c.7904_7905dupCC | p.Ser2636fs | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 57/84 | 8298/14731 | 7905/13125 | 2635/4374 | chrX | 53559363 | ||
| chrX:53559455
|
CG | C | 1 | a0005 | 1 | NA18974.hp1 | frameshift_variant | HIGH | c.7813delC | p.Arg2605fs | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 57/84 | 8206/14731 | 7813/13125 | 2605/4374 | chrX | 53559455 | ||
| chrX:53560245
|
G | GT | 1 | a0005 | 1 | NA18974.hp1 | frameshift_variant | HIGH | c.7678dupA | p.Thr2560fs | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 56/84 | 8071/14731 | 7678/13125 | 2560/4374 | chrX | 53560245 | ||
| chrX:53560256
|
AT | A | 1 | a0005 | 1 | NA18974.hp1 | frameshift_variant | HIGH | c.7667delA | p.Asn2556fs | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 56/84 | 8060/14731 | 7667/13125 | 2556/4374 | chrX | 53560256 | ||
| chrX:53562841
|
G | GGT | 1 | a0005 | 1 | NA18974.hp1 | frameshift_variant | HIGH | c.7193_7194insAC | p.Asn2399fs | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 53/84 | 7586/14731 | 7193/13125 | 2398/4374 | chrX | 53562841 | ||
| chrX:53564635
|
GC | G | 1 | a0005 | 1 | NA18974.hp1 | frameshift_variant | HIGH | c.6967delG | p.Ala2323fs | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 51/84 | 7360/14731 | 6967/13125 | 2323/4374 | chrX | 53564635 | ||
| chrX:53568729
|
C | CA | 1 | a0003 | 1 | NA19083.hp1 | frameshift_variant | HIGH | c.6669dupT | p.Asp2224fs | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 49/84 | 7062/14731 | 6669/13125 | 2223/4374 | chrX | 53568729 | ||
| chrX:53568739
|
TC | T | 1 | a0003 | 1 | NA19083.hp1 | frameshift_variant | HIGH | c.6659delG | p.Gly2220fs | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 49/84 | 7052/14731 | 6659/13125 | 2220/4374 | chrX | 53568739 | ||
| chrX:53569637
|
TC | T | 1 | a0003 | 1 | NA19083.hp1 | frameshift_variant | HIGH | c.6502delG | p.Glu2168fs | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 48/84 | 6895/14731 | 6502/13125 | 2168/4374 | chrX | 53569637 | ||
| chrX:53569652
|
GC | G | 1 | a0003 | 1 | NA19083.hp1 | frameshift_variant | HIGH | c.6487delG | p.Ala2163fs | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 48/84 | 6880/14731 | 6487/13125 | 2163/4374 | chrX | 53569652 | ||
| chrX:53569657
|
TC | T | 1 | a0003 | 1 | NA19083.hp1 | frameshift_variant | HIGH | c.6482delG | p.Gly2161fs | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 48/84 | 6875/14731 | 6482/13125 | 2161/4374 | chrX | 53569657 | ||
| chrX:53569753
|
A | AG | 1 | a0003 | 1 | NA19083.hp1 | frameshift_variant | HIGH | c.6386dupC | p.Ala2130fs | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 48/84 | 6779/14731 | 6386/13125 | 2129/4374 | chrX | 53569753 | ||
| chrX:53569815
|
G | GCA | 1 | a0003 | 1 | NA19083.hp1 | frameshift_variant | HIGH | c.6323_6324dupTG | p.Leu2109fs | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 48/84 | 6717/14731 | 6324/13125 | 2108/4374 | chrX | 53569815 | ||
| chrX:53600157
|
T | C | 1 | a0006 | 1 | HG03831.hp1 | missense_variant | MODERATE | c.3124A>G | p.Met1042Val | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 29/84 | 3517/14731 | 3124/13125 | 1042/4374 | chrX | 53600157 | ||
| chrX:53602585
|
T | C | 1 | a0002 | 1 | HG01952.hp1 | missense_variant | MODERATE | c.2950A>G | p.Thr984Ala | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 28/84 | 3343/14731 | 2950/13125 | 984/4374 | chrX | 53602585 |
| 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:53534126
|
T | C | 19 | a0001c0001a0001c0002a0001c0003others(16): Show | 212 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(209): Show |
synonymous_variant | LOW | c.12903A>G | p.Thr4301Thr | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 83/84 | 13296/14731 | 12903/13125 | 4301/4374 | chrX | 53534126 | ||
| chrX:53534675
|
C | T | 1 | a0001c0014 | 1 | HG02074.hp1 | synonymous_variant | LOW | c.12672G>A | p.Ala4224Ala | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 82/84 | 13065/14731 | 12672/13125 | 4224/4374 | chrX | 53534675 | ||
| chrX:53536535
|
G | C | 1 | a0001c0015 | 1 | NA18961.hp1 | synonymous_variant | LOW | c.12270C>G | p.Thr4090Thr | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 79/84 | 12663/14731 | 12270/13125 | 4090/4374 | chrX | 53536535 | ||
| chrX:53536628
|
A | G | 19 | a0001c0001a0001c0002a0001c0003others(16): Show | 212 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(209): Show |
synonymous_variant | LOW | c.12177T>C | p.Gly4059Gly | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 79/84 | 12570/14731 | 12177/13125 | 4059/4374 | chrX | 53536628 | ||
| chrX:53539703
|
C | T | 1 | a0001c0013 | 1 | HG00741.hp2 | synonymous_variant | LOW | c.11586G>A | p.Glu3862Glu | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 75/84 | 11979/14731 | 11586/13125 | 3862/4374 | chrX | 53539703 | ||
| chrX:53542468
|
G | A | 1 | a0001c0008 | 1 | HG02622.hp1 | synonymous_variant | LOW | c.11451C>T | p.Pro3817Pro | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 74/84 | 11844/14731 | 11451/13125 | 3817/4374 | chrX | 53542468 | ||
| chrX:53547758
|
C | A | 1 | a0001c0020 | 1 | HG01884.hp1 | synonymous_variant | LOW | c.10551G>T | p.Leu3517Leu | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 68/84 | 10944/14731 | 10551/13125 | 3517/4374 | chrX | 53547758 | ||
| chrX:53548031
|
G | A | 1 | a0001c0009 | 1 | HG03139.hp1 | synonymous_variant | LOW | c.10278C>T | p.Leu3426Leu | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 68/84 | 10671/14731 | 10278/13125 | 3426/4374 | chrX | 53548031 | ||
| chrX:53548208
|
C | T | 1 | a0001c0007 | 1 | HG01192.hp1 | synonymous_variant | LOW | c.10101G>A | p.Arg3367Arg | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 68/84 | 10494/14731 | 10101/13125 | 3367/4374 | chrX | 53548208 | ||
| chrX:53550722
|
G | C | 1 | a0001c0006 | 2 | HG00558.hp2 NA19060.hp1 |
synonymous_variant | LOW | c.9432C>G | p.Arg3144Arg | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 66/84 | 9825/14731 | 9432/13125 | 3144/4374 | chrX | 53550722 | ||
| chrX:53550926
|
T | C | 2 | a0001c0003a0003c0016 | 18 | HG00544.hp2 HG02027.hp1 HG02080.hp2 others(15): Show |
synonymous_variant | LOW | c.9360A>G | p.Ala3120Ala | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 65/84 | 9753/14731 | 9360/13125 | 3120/4374 | chrX | 53550926 | ||
| chrX:53552694
|
C | T | 1 | a0001c0004 | 4 | HG02145.hp1 HG02809.hp1 HG03041.hp2 others(1): Show |
synonymous_variant | LOW | c.8694G>A | p.Ala2898Ala | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 62/84 | 9087/14731 | 8694/13125 | 2898/4374 | chrX | 53552694 | ||
| chrX:53569639
|
A | G | 1 | a0003c0016 | 1 | NA19083.hp1 | synonymous_variant | LOW | c.6501T>C | p.Ala2167Ala | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 48/84 | 6894/14731 | 6501/13125 | 2167/4374 | chrX | 53569639 | ||
| chrX:53584322
|
T | C | 1 | a0001c0017 | 1 | HG04184.hp1 | synonymous_variant | LOW | c.5025A>G | p.Arg1675Arg | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 41/84 | 5418/14731 | 5025/13125 | 1675/4374 | chrX | 53584322 | ||
| chrX:53614686
|
T | C | 10 | a0001c0002a0001c0003a0001c0006others(7): Show | 80 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(77): Show |
synonymous_variant | LOW | c.2109A>G | p.Ser703Ser | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 23/84 | 2502/14731 | 2109/13125 | 703/4374 | chrX | 53614686 | ||
| chrX:53648257
|
T | C | 2 | a0001c0019a0001c0020 | 2 | HG01884.hp1 HG02559.hp1 |
synonymous_variant | LOW | c.99A>G | p.Gln33Gln | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 5/84 | 492/14731 | 99/13125 | 33/4374 | chrX | 53648257 |
| 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:53532125
|
A | G | 1 | a0001c0002t0017 | 1 | HG00673.hp1 | 3_prime_UTR_variant | MODIFIER | c.*1184T>C | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 84/84 | 1184 | chrX | 53532125 | |||||
| chrX:53532399
|
C | CT | 1 | a0001c0002t0012 | 1 | HG01517.hp1 | 3_prime_UTR_variant | MODIFIER | c.*909dupA | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 84/84 | 909 | chrX | 53532399 | |||||
| chrX:53532557
|
T | TA | 3 | a0001c0001t0008a0001c0002t0009a0001c0005t0008 | 4 | HG01169.hp2 HG02738.hp1 HG03516.hp1 others(1): Show |
3_prime_UTR_variant | MODIFIER | c.*751dupT | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 84/84 | 751 | chrX | 53532557 | |||||
| chrX:53532707
|
C | A | 2 | a0001c0002t0005a0001c0002t0013 | 7 | HG00099.hp2 HG00733.hp2 HG01169.hp1 others(4): Show |
3_prime_UTR_variant | MODIFIER | c.*602G>T | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 84/84 | 602 | chrX | 53532707 | |||||
| chrX:53532749
|
G | GT | 1 | a0001c0001t0011 | 1 | NA19030.hp1 | 3_prime_UTR_variant | MODIFIER | c.*559dupA | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 84/84 | 559 | chrX | 53532749 | |||||
| chrX:53532749
|
GT | G | 1 | a0001c0001t0014 | 1 | NA18986.hp1 | 3_prime_UTR_variant | MODIFIER | c.*559delA | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 84/84 | 559 | chrX | 53532749 | |||||
| chrX:53533100
|
G | A | 1 | a0001c0002t0009 | 2 | HG02738.hp1 NA18949.hp1 |
3_prime_UTR_variant | MODIFIER | c.*209C>T | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 84/84 | 209 | chrX | 53533100 | |||||
| chrX:53686296
|
C | CG | 1 | a0005c0012t0016 | 1 | NA18974.hp1 | 5_prime_UTR_variant | MODIFIER | c.-190_-189insC | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 2/84 | 32190 | chrX | 53686296 | |||||
| chrX:53686636
|
G | GGCCCTGC others(4): Show |
1 | a0001c0001t0015 | 1 | HG02055.hp1 | 5_prime_UTR_variant | MODIFIER | c.-321_-311dupTGAAGC others(5): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 1/84 | 32530 | chrX | 53686636 | |||||
| chrX:53686636
|
GGCCCTGC others(4): Show |
G | 1 | a0001c0001t0006 | 5 | HG01069.hp1 HG01071.hp1 HG02735.hp1 others(2): Show |
5_prime_UTR_variant | MODIFIER | c.-321_-311delTGAAGC others(5): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 1/84 | 32530 | chrX | 53686636 | |||||
| chrX:53686645
|
T | TCAGCCCT others(4): Show |
2 | a0001c0001t0004a0001c0008t0004 | 26 | HG00597.hp1 HG00733.hp1 HG01106.hp1 others(23): Show |
5_prime_UTR_variant | MODIFIER | c.-320_-319insGAGCAG others(5): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 1/84 | 32539 | chrX | 53686645 | |||||
| chrX:53686645
|
T | TCAGCCCT others(15): Show |
1 | a0001c0003t0019 | 1 | NA18993.hp2 | 5_prime_UTR_variant | MODIFIER | c.-320_-319insGAGCAG others(16): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 1/84 | 32539 | chrX | 53686645 | |||||
| chrX:53686645
|
TCAGCCCT others(15): Show |
T | 1 | a0001c0001t0010 | 1 | HG02602.hp1 | 5_prime_UTR_variant | MODIFIER | c.-341_-320delGAGCAG others(16): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 1/84 | 32539 | chrX | 53686645 | |||||
| chrX:53686656
|
T | C | 11 | a0001c0001t0001a0001c0001t0004a0001c0002t0001others(8): Show | 83 | HG00099.hp1 HG00438.hp1 HG00544.hp1 others(80): Show |
5_prime_UTR_variant | MODIFIER | c.-330A>G | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 1/84 | 32549 | chrX | 53686656 | |||||
| chrX:53686656
|
T | TCAGCCCT others(4): Show |
12 | a0001c0001t0002a0001c0002t0002a0001c0002t0005others(9): Show | 65 | HG00140.hp1 HG00280.hp1 HG00323.hp1 others(62): Show |
5_prime_UTR_variant | MODIFIER | c.-341_-331dupGAGCAG others(5): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 1/84 | 32550 | chrX | 53686656 | |||||
| chrX:53686656
|
T | TCAGCCCT others(15): Show |
2 | a0001c0002t0007a0001c0017t0007 | 4 | HG00597.hp2 HG02071.hp1 HG04184.hp1 others(1): Show |
5_prime_UTR_variant | MODIFIER | c.-352_-331dupGAGCAG others(16): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 1/84 | 32550 | chrX | 53686656 | |||||
| chrX:53686656
|
T | TCAGCCCT others(26): Show |
1 | a0001c0001t0018 | 1 | HG02040.hp1 | 5_prime_UTR_variant | MODIFIER | c.-331_-330insGAGCAG others(27): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 1/84 | 32550 | chrX | 53686656 |
| 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:53533511
|
C | T | 1 | a0001c0001t0004g0186 | 1 | HG02080.hp1 | intron_variant | MODIFIER | c.13023-100G>A | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 83/83 | chrX | 53533511 | ||||||
| chrX:53533512
|
C | G | 1 | a0001c0002t0007g0209 | 1 | HG00597.hp2 | intron_variant | MODIFIER | c.13023-101G>C | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 83/83 | chrX | 53533512 | ||||||
| chrX:53533969
|
C | G | 1 | a0001c0002t0007g0209 | 1 | HG00597.hp2 | intron_variant | MODIFIER | c.13022+38G>C | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 83/83 | chrX | 53533969 | ||||||
| chrX:53534737
|
A | G | 1 | a0001c0008t0004g0208 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.12650-40T>C | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 81/83 | chrX | 53534737 | ||||||
| chrX:53534813
|
C | G | 1 | a0001c0001t0002g0179 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.12650-116G>C | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 81/83 | chrX | 53534813 | ||||||
| chrX:53534896
|
G | T | 1 | a0001c0001t0003g0060 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.12650-199C>A | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 81/83 | chrX | 53534896 | ||||||
| chrX:53534942
|
G | GT | 2 | a0001c0001t0001g0076a0001c0001t0001g0107 | 2 | NA18989.hp1 NA18994.hp1 |
intron_variant | MODIFIER | c.12650-246dupA | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 81/83 | chrX | 53534942 | ||||||
| chrX:53534942
|
G | T | 2 | a0001c0006t0001g0067a0001c0006t0002g0148 | 2 | HG00558.hp2 NA19060.hp1 |
intron_variant | MODIFIER | c.12650-245C>A | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 81/83 | chrX | 53534942 | ||||||
| chrX:53534946
|
T | G | 3 | a0001c0001t0002g0149a0001c0002t0002g0174a0001c0002t0007g0211 | 3 | HG00558.hp1 NA18955.hp1 NA19082.hp1 |
intron_variant | MODIFIER | c.12650-249A>C | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 81/83 | chrX | 53534946 | ||||||
| chrX:53534965
|
C | G | 1 | a0001c0002t0002g0160 | 1 | HG01071.hp2 | intron_variant | MODIFIER | c.12650-268G>C | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 81/83 | chrX | 53534965 | ||||||
| chrX:53535007
|
G | C | 1 | a0001c0001t0001g0087 | 1 | NA18970.hp1 | intron_variant | MODIFIER | c.12650-310C>G | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 81/83 | chrX | 53535007 | ||||||
| chrX:53535163
|
C | G | 1 | a0001c0002t0002g0166 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.12649+221G>C | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 81/83 | chrX | 53535163 | ||||||
| chrX:53535224
|
C | T | 1 | a0001c0001t0003g0052 | 1 | HG00323.hp2 | intron_variant | MODIFIER | c.12649+160G>A | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 81/83 | chrX | 53535224 | ||||||
| chrX:53535225
|
G | A | 1 | a0001c0002t0013g0014 | 1 | HG00099.hp2 | intron_variant | MODIFIER | c.12649+159C>T | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 81/83 | chrX | 53535225 | ||||||
| chrX:53535276
|
A | G | 1 | a0001c0019t0003g0029 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.12649+108T>C | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 81/83 | chrX | 53535276 | ||||||
| chrX:53535335
|
G | A | 2 | a0001c0001t0001g0096a0001c0001t0001g0116 | 2 | HG01258.hp1 HG01496.hp1 |
intron_variant | MODIFIER | c.12649+49C>T | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 81/83 | chrX | 53535335 | ||||||
| chrX:53535362
|
G | C | 1 | a0001c0001t0003g0016 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.12649+22C>G | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 81/83 | chrX | 53535362 | ||||||
| chrX:53535678
|
C | T | 1 | a0001c0001t0003g0039 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.12532-177G>A | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 80/83 | chrX | 53535678 | ||||||
| chrX:53535692
|
G | C | 81 | a0001c0001t0002g0149a0001c0002t0001g0065a0001c0002t0002g0123others(78): Show | 81 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(78): Show |
intron_variant | MODIFIER | c.12532-191C>G | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 80/83 | chrX | 53535692 | ||||||
| chrX:53535922
|
G | GT | 81 | a0001c0001t0001g0086a0001c0001t0001g0117a0001c0001t0002g0149others(78): Show | 81 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(78): Show |
intron_variant | MODIFIER | c.12531+224dupA | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 80/83 | chrX | 53535922 | ||||||
| chrX:53535922
|
G | GTT | 7 | a0001c0001t0003g0045a0001c0002t0002g0134a0001c0002t0002g0141others(4): Show | 7 | HG01109.hp1 HG02071.hp1 HG02572.hp1 others(4): Show |
intron_variant | MODIFIER | c.12531+223_12531+22 others(6): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 80/83 | chrX | 53535922 | ||||||
| chrX:53535922
|
GT | G | 6 | a0001c0001t0001g0100a0001c0001t0001g0101a0001c0001t0003g0054others(3): Show | 6 | HG00099.hp1 HG01517.hp2 HG01934.hp1 others(3): Show |
intron_variant | MODIFIER | c.12531+224delA | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 80/83 | chrX | 53535922 | ||||||
| chrX:53535922
|
GTTTTTTT others(1): Show |
G | 1 | a0001c0002t0003g0025 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.12531+217_12531+22 others(12): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 80/83 | chrX | 53535922 | ||||||
| chrX:53536259
|
A | C | 1 | a0001c0004t0003g0010 | 1 | HG03579.hp1 | splice_region_variant&intron_variant | LOW | c.12426-7T>G | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 79/83 | chrX | 53536259 | ||||||
| chrX:53536296
|
G | C | 1 | a0001c0002t0007g0210 | 1 | HG02071.hp1 | intron_variant | MODIFIER | c.12426-44C>G | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 79/83 | chrX | 53536296 | ||||||
| chrX:53536301
|
G | A | 6 | a0001c0002t0002g0147a0001c0002t0002g0159a0001c0002t0002g0160others(3): Show | 6 | HG01071.hp2 HG01261.hp1 HG01496.hp2 others(3): Show |
intron_variant | MODIFIER | c.12426-49C>T | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 79/83 | chrX | 53536301 | ||||||
| chrX:53536747
|
G | C | 2 | a0001c0019t0003g0029a0001c0020t0003g0030 | 2 | HG01884.hp1 HG02559.hp1 |
intron_variant | MODIFIER | c.12138-80C>G | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 78/83 | chrX | 53536747 | ||||||
| chrX:53536800
|
C | T | 2 | a0001c0001t0003g0035a0001c0001t0014g0034 | 2 | HG02083.hp1 NA18986.hp1 |
intron_variant | MODIFIER | c.12138-133G>A | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 78/83 | chrX | 53536800 | ||||||
| chrX:53536950
|
G | T | 2 | a0001c0002t0002g0174a0001c0002t0007g0211 | 2 | NA18955.hp1 NA19082.hp1 |
intron_variant | MODIFIER | c.12138-283C>A | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 78/83 | chrX | 53536950 | ||||||
| chrX:53537118
|
A | G | 1 | a0001c0001t0011g0008 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.12137+438T>C | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 78/83 | chrX | 53537118 | ||||||
| chrX:53537159
|
C | G | 1 | a0001c0001t0001g0099 | 1 | NA18946.hp1 | intron_variant | MODIFIER | c.12137+397G>C | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 78/83 | chrX | 53537159 | ||||||
| chrX:53537974
|
G | A | 2 | a0001c0019t0003g0029a0001c0020t0003g0030 | 2 | HG01884.hp1 HG02559.hp1 |
intron_variant | MODIFIER | c.11997-278C>T | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 77/83 | chrX | 53537974 | ||||||
| chrX:53538094
|
C | T | 3 | a0001c0008t0004g0208a0001c0019t0003g0029a0001c0020t0003g0030 | 3 | HG01884.hp1 HG02559.hp1 HG02622.hp1 |
intron_variant | MODIFIER | c.11996+243G>A | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 77/83 | chrX | 53538094 | ||||||
| chrX:53538140
|
G | A | 2 | a0001c0001t0001g0085a0001c0001t0004g0205 | 2 | HG03239.hp2 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.11996+197C>T | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 77/83 | chrX | 53538140 | ||||||
| chrX:53538307
|
C | T | 1 | a0001c0007t0001g0108 | 1 | HG01192.hp1 | intron_variant | MODIFIER | c.11996+30G>A | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 77/83 | chrX | 53538307 | ||||||
| chrX:53538685
|
GGTGT | G | 1 | a0001c0008t0004g0208 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.11878+146_11878+14 others(8): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 76/83 | chrX | 53538685 | ||||||
| chrX:53538690
|
G | A | 1 | a0003c0016t0002g0119 | 1 | NA19083.hp1 | intron_variant | MODIFIER | c.11878+145C>T | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 76/83 | chrX | 53538690 | ||||||
| chrX:53538697
|
T | TACAC | 1 | a0001c0019t0003g0029 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.11878+134_11878+13 others(8): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 76/83 | chrX | 53538697 | ||||||
| chrX:53538697
|
TAC | T | 6 | a0001c0001t0001g0092a0001c0002t0002g0134a0001c0002t0002g0136others(3): Show | 6 | HG01192.hp1 HG03239.hp1 HG03491.hp2 others(3): Show |
intron_variant | MODIFIER | c.11878+136_11878+13 others(6): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 76/83 | chrX | 53538697 | ||||||
| chrX:53538697
|
TACAC | T | 2 | a0001c0001t0001g0072a0001c0002t0002g0142 | 2 | HG03704.hp2 NA20752.hp1 |
intron_variant | MODIFIER | c.11878+134_11878+13 others(8): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 76/83 | chrX | 53538697 | ||||||
| chrX:53538713
|
C | A | 5 | a0001c0001t0003g0037a0001c0001t0003g0038a0001c0001t0003g0050others(2): Show | 5 | HG02258.hp1 HG02559.hp2 HG03098.hp1 others(2): Show |
intron_variant | MODIFIER | c.11878+122G>T | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 76/83 | chrX | 53538713 | ||||||
| chrX:53538720
|
A | ACTCT | 5 | a0001c0001t0001g0071a0001c0001t0001g0081a0001c0001t0001g0090others(2): Show | 5 | HG03491.hp1 NA18612.hp1 NA18967.hp1 others(2): Show |
intron_variant | MODIFIER | c.11878+114_11878+11 others(8): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 76/83 | chrX | 53538720 | ||||||
| chrX:53538720
|
A | T | 1 | a0001c0001t0001g0092 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.11878+115T>A | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 76/83 | chrX | 53538720 | ||||||
| chrX:53538722
|
A | ACT | 4 | a0001c0001t0001g0083a0001c0001t0002g0178a0001c0002t0009g0169others(1): Show | 4 | HG02738.hp1 HG03704.hp1 NA18906.hp1 others(1): Show |
intron_variant | MODIFIER | c.11878+112_11878+11 others(6): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 76/83 | chrX | 53538722 | ||||||
| chrX:53538722
|
A | ACTCT | 59 | a0001c0001t0001g0063a0001c0001t0001g0064a0001c0001t0001g0069others(56): Show | 60 | HG00099.hp1 HG00438.hp1 HG00544.hp1 others(57): Show |
intron_variant | MODIFIER | c.11878+112_11878+11 others(8): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 76/83 | chrX | 53538722 | ||||||
| chrX:53538722
|
A | ACTCTCT | 8 | a0001c0001t0001g0093a0001c0001t0001g0115a0001c0001t0002g0149others(5): Show | 8 | HG00558.hp1 HG02148.hp1 NA18945.hp1 others(5): Show |
intron_variant | MODIFIER | c.11878+112_11878+11 others(10): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 76/83 | chrX | 53538722 | ||||||
| chrX:53538722
|
A | ACTCTCTC others(1): Show |
2 | a0001c0001t0001g0101a0001c0001t0001g0102 | 2 | HG01515.hp1 HG01517.hp2 |
intron_variant | MODIFIER | c.11878+112_11878+11 others(12): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 76/83 | chrX | 53538722 | ||||||
| chrX:53538722
|
A | T | 9 | a0001c0001t0001g0071a0001c0001t0001g0072a0001c0001t0001g0081others(6): Show | 9 | HG03491.hp1 HG04115.hp1 HG04228.hp1 others(6): Show |
intron_variant | MODIFIER | c.11878+113T>A | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 76/83 | chrX | 53538722 | ||||||
| chrX:53538722
|
ACACT | A | 2 | a0001c0001t0001g0073a0001c0001t0002g0177 | 2 | HG00609.hp1 HG01081.hp2 |
intron_variant | MODIFIER | c.11878+109_11878+11 others(8): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 76/83 | chrX | 53538722 | ||||||
| chrX:53538724
|
A | ACACACAC others(3): Show |
1 | a0001c0001t0004g0202 | 1 | HG00733.hp1 | intron_variant | MODIFIER | c.11878+110_11878+11 others(14): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 76/83 | chrX | 53538724 | ||||||
| chrX:53538724
|
A | ACACT | 1 | a0001c0001t0003g0053 | 1 | HG00735.hp2 | intron_variant | MODIFIER | c.11878+110_11878+11 others(8): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 76/83 | chrX | 53538724 | ||||||
| chrX:53538724
|
A | ACT | 5 | a0001c0001t0003g0057a0001c0001t0003g0058a0001c0002t0003g0009others(2): Show | 5 | HG01243.hp1 HG02132.hp1 HG02615.hp2 others(2): Show |
intron_variant | MODIFIER | c.11878+109_11878+11 others(6): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 76/83 | chrX | 53538724 | ||||||
| chrX:53538724
|
A | ACTCT | 5 | a0001c0002t0002g0168a0001c0004t0003g0010a0001c0004t0003g0011others(2): Show | 5 | HG02145.hp1 HG02809.hp1 HG03041.hp2 others(2): Show |
intron_variant | MODIFIER | c.11878+107_11878+11 others(8): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 76/83 | chrX | 53538724 | ||||||
| chrX:53538724
|
A | ACTCTCT | 4 | a0001c0001t0001g0085a0001c0001t0004g0204a0001c0001t0004g0205others(1): Show | 4 | HG02040.hp1 HG03239.hp2 HG03942.hp1 others(1): Show |
intron_variant | MODIFIER | c.11878+105_11878+11 others(10): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 76/83 | chrX | 53538724 | ||||||
| chrX:53538724
|
A | T | 179 | a0001c0001t0001g0063a0001c0001t0001g0064a0001c0001t0001g0069others(176): Show | 180 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(177): Show |
intron_variant | MODIFIER | c.11878+111T>A | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 76/83 | chrX | 53538724 | ||||||
| chrX:53538724
|
ACTCT | A | 1 | a0001c0009t0001g0077 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.11878+107_11878+11 others(8): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 76/83 | chrX | 53538724 | ||||||
| chrX:53538724
|
ACTCTCTC others(1): Show |
A | 1 | a0001c0002t0003g0025 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.11878+103_11878+11 others(12): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 76/83 | chrX | 53538724 | ||||||
| chrX:53538724
|
ACTCTCTC others(5): Show |
A | 1 | a0001c0008t0004g0208 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.11878+99_11878+110 others(15): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 76/83 | chrX | 53538724 | ||||||
| chrX:53538726
|
T | A | 2 | a0001c0019t0003g0029a0001c0020t0003g0030 | 2 | HG01884.hp1 HG02559.hp1 |
intron_variant | MODIFIER | c.11878+109A>T | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 76/83 | chrX | 53538726 | ||||||
| chrX:53538728
|
T | A | 2 | a0001c0019t0003g0029a0001c0020t0003g0030 | 2 | HG01884.hp1 HG02559.hp1 |
intron_variant | MODIFIER | c.11878+107A>T | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 76/83 | chrX | 53538728 | ||||||
| chrX:53538730
|
T | A | 1 | a0001c0009t0001g0077 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.11878+105A>T | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 76/83 | chrX | 53538730 | ||||||
| chrX:53538750
|
TCTC | T | 1 | a0001c0002t0002g0166 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.11878+82_11878+84d others(5): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 76/83 | chrX | 53538750 | ||||||
| chrX:53539105
|
TA | T | 2 | a0001c0014t0002g0158a0005c0012t0016g0181 | 2 | HG02074.hp1 NA18974.hp1 |
intron_variant | MODIFIER | c.11633-26delT | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 75/83 | chrX | 53539105 | ||||||
| chrX:53539229
|
C | A | 1 | a0001c0005t0008g0027 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.11633-149G>T | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 75/83 | chrX | 53539229 | ||||||
| chrX:53539320
|
T | TA | 84 | a0001c0001t0001g0069a0001c0001t0001g0070a0001c0001t0001g0071others(81): Show | 84 | HG00099.hp1 HG00438.hp1 HG00544.hp1 others(81): Show |
intron_variant | MODIFIER | c.11633-241dupT | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 75/83 | chrX | 53539320 | ||||||
| chrX:53539320
|
T | TAA | 6 | a0001c0001t0001g0075a0001c0001t0001g0076a0001c0001t0001g0118others(3): Show | 6 | HG00733.hp1 HG00735.hp1 HG02027.hp1 others(3): Show |
intron_variant | MODIFIER | c.11633-242_11633-24 others(6): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 75/83 | chrX | 53539320 | ||||||
| chrX:53539320
|
TA | T | 11 | a0001c0001t0003g0035a0001c0002t0002g0129a0001c0002t0002g0134others(8): Show | 11 | HG01169.hp1 HG01943.hp1 HG02080.hp2 others(8): Show |
intron_variant | MODIFIER | c.11633-241delT | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 75/83 | chrX | 53539320 | ||||||
| chrX:53539321
|
A | T | 1 | a0001c0002t0002g0182 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.11633-241T>A | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 75/83 | chrX | 53539321 | ||||||
| chrX:53539632
|
C | G | 1 | a0001c0002t0002g0176 | 1 | HG02698.hp1 | intron_variant | MODIFIER | c.11632+25G>C | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 75/83 | chrX | 53539632 | ||||||
| chrX:53540125
|
G | T | 1 | a0001c0001t0001g0098 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.11477-313C>A | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 74/83 | chrX | 53540125 | ||||||
| chrX:53540255
|
C | A | 1 | a0001c0002t0002g0166 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.11477-443G>T | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 74/83 | chrX | 53540255 | ||||||
| chrX:53540331
|
C | CT | 2 | a0001c0001t0004g0191a0001c0003t0019g0213 | 2 | NA18943.hp1 NA18993.hp2 |
intron_variant | MODIFIER | c.11477-520dupA | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 74/83 | chrX | 53540331 | ||||||
| chrX:53540346
|
CCT | C | 1 | a0001c0002t0002g0166 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.11477-536_11477-53 others(6): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 74/83 | chrX | 53540346 | ||||||
| chrX:53540358
|
T | G | 1 | a0001c0001t0011g0008 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.11477-546A>C | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 74/83 | chrX | 53540358 | ||||||
| chrX:53540359
|
C | T | 38 | a0001c0001t0002g0177a0001c0001t0002g0178a0001c0001t0002g0179others(35): Show | 38 | HG00323.hp2 HG00735.hp2 HG00738.hp1 others(35): Show |
intron_variant | MODIFIER | c.11477-547G>A | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 74/83 | chrX | 53540359 | ||||||
| chrX:53540360
|
G | A | 1 | a0001c0001t0004g0204 | 1 | HG03942.hp1 | intron_variant | MODIFIER | c.11477-548C>T | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 74/83 | chrX | 53540360 | ||||||
| chrX:53540490
|
G | A | 112 | a0001c0001t0002g0177a0001c0001t0002g0178a0001c0001t0002g0179others(109): Show | 112 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(109): Show |
intron_variant | MODIFIER | c.11477-678C>T | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 74/83 | chrX | 53540490 | ||||||
| chrX:53540609
|
G | T | 1 | a0001c0002t0002g0123 | 1 | NA18942.hp1 | intron_variant | MODIFIER | c.11477-797C>A | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 74/83 | chrX | 53540609 | ||||||
| chrX:53541312
|
C | T | 1 | a0001c0009t0001g0077 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.11476+1131G>A | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 74/83 | chrX | 53541312 | ||||||
| chrX:53541317
|
G | A | 1 | a0001c0001t0002g0179 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.11476+1126C>T | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 74/83 | chrX | 53541317 | ||||||
| chrX:53541378
|
A | T | 2 | a0001c0019t0003g0029a0001c0020t0003g0030 | 2 | HG01884.hp1 HG02559.hp1 |
intron_variant | MODIFIER | c.11476+1065T>A | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 74/83 | chrX | 53541378 | ||||||
| chrX:53541409
|
G | A | 1 | a0001c0002t0002g0183 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.11476+1034C>T | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 74/83 | chrX | 53541409 | ||||||
| chrX:53541433
|
C | CA | 1 | a0001c0001t0011g0008 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.11476+1009dupT | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 74/83 | chrX | 53541433 | ||||||
| chrX:53541433
|
CA | C | 1 | a0001c0008t0004g0208 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.11476+1009delT | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 74/83 | chrX | 53541433 | ||||||
| chrX:53541564
|
A | AC | 1 | a0001c0001t0010g0002 | 1 | HG02602.hp1 | intron_variant | MODIFIER | c.11476+878dupG | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 74/83 | chrX | 53541564 | ||||||
| chrX:53541603
|
AAAAG | A | 1 | a0001c0020t0003g0030 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.11476+836_11476+83 others(8): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 74/83 | chrX | 53541603 | ||||||
| chrX:53541972
|
G | C | 2 | a0001c0002t0009g0124a0001c0002t0009g0169 | 2 | HG02738.hp1 NA18949.hp1 |
intron_variant | MODIFIER | c.11476+471C>G | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 74/83 | chrX | 53541972 | ||||||
| chrX:53542009
|
G | A | 1 | a0001c0001t0004g0203 | 1 | HG01106.hp1 | intron_variant | MODIFIER | c.11476+434C>T | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 74/83 | chrX | 53542009 | ||||||
| chrX:53542845
|
T | TTG | 20 | a0001c0001t0001g0082a0001c0001t0001g0087a0001c0001t0001g0090others(17): Show | 20 | HG00735.hp1 HG01081.hp2 HG02055.hp1 others(17): Show |
intron_variant | MODIFIER | c.11380-308_11380-30 others(6): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 73/83 | chrX | 53542845 | ||||||
| chrX:53542845
|
T | TTGTG | 32 | a0001c0001t0001g0063a0001c0001t0001g0064a0001c0001t0001g0072others(29): Show | 32 | HG00733.hp1 HG01106.hp1 HG01515.hp1 others(29): Show |
intron_variant | MODIFIER | c.11380-310_11380-30 others(8): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 73/83 | chrX | 53542845 | ||||||
| chrX:53542845
|
T | TTGTGTG | 13 | a0001c0001t0001g0069a0001c0001t0001g0081a0001c0001t0001g0088others(10): Show | 14 | HG00099.hp1 HG00544.hp1 HG01192.hp1 others(11): Show |
intron_variant | MODIFIER | c.11380-312_11380-30 others(10): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 73/83 | chrX | 53542845 | ||||||
| chrX:53542845
|
T | TTGTGTGT others(1): Show |
7 | a0001c0001t0001g0070a0001c0001t0001g0071a0001c0001t0001g0074others(4): Show | 7 | HG00438.hp1 HG00558.hp1 HG00597.hp1 others(4): Show |
intron_variant | MODIFIER | c.11380-314_11380-30 others(12): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 73/83 | chrX | 53542845 | ||||||
| chrX:53542845
|
T | TTGTGTGT others(3): Show |
1 | a0001c0001t0001g0073 | 1 | HG00609.hp1 | intron_variant | MODIFIER | c.11380-316_11380-30 others(14): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 73/83 | chrX | 53542845 | ||||||
| chrX:53542845
|
T | TTGTGTGT others(7): Show |
1 | a0001c0001t0001g0093 | 1 | NA18990.hp1 | intron_variant | MODIFIER | c.11380-320_11380-30 others(18): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 73/83 | chrX | 53542845 | ||||||
| chrX:53542845
|
TTG | T | 20 | a0001c0001t0001g0079a0001c0001t0001g0080a0001c0001t0001g0095others(17): Show | 20 | HG00280.hp1 HG00738.hp1 HG00741.hp2 others(17): Show |
intron_variant | MODIFIER | c.11380-308_11380-30 others(6): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 73/83 | chrX | 53542845 | ||||||
| chrX:53542845
|
TTGTG | T | 59 | a0001c0001t0003g0033a0001c0001t0003g0039a0001c0001t0003g0040others(56): Show | 59 | HG00099.hp2 HG00140.hp1 HG00438.hp2 others(56): Show |
intron_variant | MODIFIER | c.11380-310_11380-30 others(8): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 73/83 | chrX | 53542845 | ||||||
| chrX:53542845
|
TTGTGTG | T | 16 | a0001c0001t0003g0032a0001c0001t0003g0035a0001c0001t0003g0037others(13): Show | 16 | HG00323.hp2 HG00733.hp2 HG02074.hp1 others(13): Show |
intron_variant | MODIFIER | c.11380-312_11380-30 others(10): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 73/83 | chrX | 53542845 | ||||||
| chrX:53542845
|
TTGTGTGT others(1): Show |
T | 6 | a0001c0001t0001g0113a0001c0001t0001g0114a0001c0001t0003g0045others(3): Show | 6 | HG00741.hp1 HG01433.hp1 HG02572.hp1 others(3): Show |
intron_variant | MODIFIER | c.11380-314_11380-30 others(12): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 73/83 | chrX | 53542845 | ||||||
| chrX:53542845
|
TTGTGTGT others(3): Show |
T | 9 | a0001c0001t0003g0050a0001c0001t0003g0051a0001c0001t0003g0053others(6): Show | 9 | HG00323.hp1 HG00735.hp2 HG01884.hp1 others(6): Show |
intron_variant | MODIFIER | c.11380-316_11380-30 others(14): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 73/83 | chrX | 53542845 | ||||||
| chrX:53542845
|
TTGTGTGT others(5): Show |
T | 3 | a0001c0001t0001g0086a0001c0001t0004g0201a0001c0004t0003g0013 | 3 | HG03041.hp2 HG03831.hp2 HG04204.hp1 |
intron_variant | MODIFIER | c.11380-318_11380-30 others(16): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 73/83 | chrX | 53542845 | ||||||
| chrX:53542845
|
TTGTGTGT others(7): Show |
T | 2 | a0001c0004t0003g0010a0001c0004t0003g0011 | 2 | HG02809.hp1 HG03579.hp1 |
intron_variant | MODIFIER | c.11380-320_11380-30 others(18): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 73/83 | chrX | 53542845 | ||||||
| chrX:53542845
|
TTGTGTGT others(11): Show |
T | 1 | a0001c0001t0011g0008 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.11380-324_11380-30 others(22): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 73/83 | chrX | 53542845 | ||||||
| chrX:53542845
|
TTGTGTGT others(13): Show |
T | 1 | a0001c0002t0002g0166 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.11380-326_11380-30 others(24): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 73/83 | chrX | 53542845 | ||||||
| chrX:53542845
|
TTGTGTGT others(15): Show |
T | 8 | a0001c0001t0001g0094a0001c0001t0001g0096a0001c0001t0001g0106others(5): Show | 8 | HG01069.hp1 HG01071.hp1 HG01258.hp1 others(5): Show |
intron_variant | MODIFIER | c.11380-328_11380-30 others(26): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 73/83 | chrX | 53542845 | ||||||
| chrX:53542928
|
CTT | C | 2 | a0001c0019t0003g0029a0001c0020t0003g0030 | 2 | HG01884.hp1 HG02559.hp1 |
intron_variant | MODIFIER | c.11380-391_11380-39 others(6): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 73/83 | chrX | 53542928 | ||||||
| chrX:53543112
|
C | T | 1 | a0001c0003t0002g0140 | 1 | NA18977.hp1 | intron_variant | MODIFIER | c.11380-573G>A | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 73/83 | chrX | 53543112 | ||||||
| chrX:53543281
|
C | CT | 1 | a0001c0001t0001g0064 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.11379+559dupA | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 73/83 | chrX | 53543281 | ||||||
| chrX:53544171
|
C | T | 1 | a0001c0020t0003g0030 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.11252-203G>A | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 72/83 | chrX | 53544171 | ||||||
| chrX:53544454
|
G | C | 7 | a0001c0001t0002g0177a0001c0001t0002g0178a0001c0001t0002g0179others(4): Show | 7 | HG01081.hp2 HG01884.hp2 HG02055.hp1 others(4): Show |
intron_variant | MODIFIER | c.11251+106C>G | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 72/83 | chrX | 53544454 | ||||||
| chrX:53544503
|
G | C | 7 | a0001c0001t0001g0094a0001c0001t0001g0096a0001c0001t0001g0106others(4): Show | 7 | HG01069.hp1 HG01071.hp1 HG01258.hp1 others(4): Show |
intron_variant | MODIFIER | c.11251+57C>G | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 72/83 | chrX | 53544503 | ||||||
| chrX:53544534
|
C | CT | 1 | a0001c0001t0001g0089 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.11251+25dupA | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 72/83 | chrX | 53544534 | ||||||
| chrX:53544814
|
A | AC | 1 | a0001c0001t0001g0089 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.11049-53dupG | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 71/83 | chrX | 53544814 | ||||||
| chrX:53545434
|
C | T | 1 | a0001c0002t0003g0021 | 1 | HG00621.hp1 | intron_variant | MODIFIER | c.10916-273G>A | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 70/83 | chrX | 53545434 | ||||||
| chrX:53545573
|
C | G | 3 | a0001c0001t0011g0008a0001c0019t0003g0029a0001c0020t0003g0030 | 3 | HG01884.hp1 HG02559.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.10916-412G>C | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 70/83 | chrX | 53545573 | ||||||
| chrX:53545867
|
C | CT | 1 | a0001c0002t0002g0175 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.10915+568dupA | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 70/83 | chrX | 53545867 | ||||||
| chrX:53545969
|
G | A | 1 | a0004c0010t0003g0061 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.10915+467C>T | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 70/83 | chrX | 53545969 | ||||||
| chrX:53546023
|
CAG | C | 1 | a0001c0002t0002g0141 | 1 | HG03654.hp1 | intron_variant | MODIFIER | c.10915+411_10915+41 others(6): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 70/83 | chrX | 53546023 | ||||||
| chrX:53546074
|
G | C | 3 | a0001c0008t0004g0208a0001c0019t0003g0029a0001c0020t0003g0030 | 3 | HG01884.hp1 HG02559.hp1 HG02622.hp1 |
intron_variant | MODIFIER | c.10915+362C>G | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 70/83 | chrX | 53546074 | ||||||
| chrX:53547050
|
G | A | 4 | a0001c0001t0003g0040a0001c0001t0003g0041a0001c0001t0003g0042others(1): Show | 4 | HG01255.hp1 HG02809.hp2 HG02965.hp1 others(1): Show |
intron_variant | MODIFIER | c.10637-225C>T | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 68/83 | chrX | 53547050 | ||||||
| chrX:53547273
|
A | T | 1 | a0001c0001t0003g0042 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.10636+400T>A | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 68/83 | chrX | 53547273 | ||||||
| chrX:53547307
|
C | G | 1 | a0001c0001t0003g0016 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.10636+366G>C | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 68/83 | chrX | 53547307 | ||||||
| chrX:53547484
|
C | T | 3 | a0001c0001t0001g0100a0001c0001t0001g0101a0001c0001t0001g0102 | 3 | HG00099.hp1 HG01515.hp1 HG01517.hp2 |
intron_variant | MODIFIER | c.10636+189G>A | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 68/83 | chrX | 53547484 | ||||||
| chrX:53548278
|
C | CG | 1 | a0001c0002t0007g0211 | 1 | NA19082.hp1 | splice_region_variant&intron_variant | LOW | c.10036-6dupC | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 67/83 | chrX | 53548278 | ||||||
| chrX:53548530
|
C | G | 1 | a0001c0002t0003g0024 | 1 | NA18952.hp1 | intron_variant | MODIFIER | c.10036-257G>C | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 67/83 | chrX | 53548530 | ||||||
| chrX:53548630
|
TG | T | 2 | a0001c0019t0003g0029a0001c0020t0003g0030 | 2 | HG01884.hp1 HG02559.hp1 |
intron_variant | MODIFIER | c.10035+328delC | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 67/83 | chrX | 53548630 | ||||||
| chrX:53548895
|
C | CT | 1 | a0001c0001t0003g0044 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.10035+63dupA | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 67/83 | chrX | 53548895 | ||||||
| chrX:53549842
|
C | G | 1 | a0001c0001t0011g0008 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.9489-337G>C | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 66/83 | chrX | 53549842 | ||||||
| chrX:53549900
|
G | A | 3 | a0001c0001t0001g0088a0001c0001t0001g0089a0001c0001t0001g0103 | 3 | NA19005.hp1 NA19072.hp1 NA19087.hp1 |
intron_variant | MODIFIER | c.9489-395C>T | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 66/83 | chrX | 53549900 | ||||||
| chrX:53550017
|
G | C | 116 | a0001c0001t0002g0149a0001c0001t0002g0177a0001c0001t0002g0178others(113): Show | 116 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(113): Show |
intron_variant | MODIFIER | c.9489-512C>G | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 66/83 | chrX | 53550017 | ||||||
| chrX:53550116
|
T | A | 6 | a0001c0002t0002g0147a0001c0002t0002g0159a0001c0002t0002g0160others(3): Show | 6 | HG01071.hp2 HG01261.hp1 HG01496.hp2 others(3): Show |
intron_variant | MODIFIER | c.9488+550A>T | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 66/83 | chrX | 53550116 | ||||||
| chrX:53550121
|
C | T | 1 | a0001c0001t0001g0085 | 1 | HG03239.hp2 | intron_variant | MODIFIER | c.9488+545G>A | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 66/83 | chrX | 53550121 | ||||||
| chrX:53551596
|
T | A | 2 | a0001c0019t0003g0029a0001c0020t0003g0030 | 2 | HG01884.hp1 HG02559.hp1 |
intron_variant | MODIFIER | c.8882-116A>T | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 63/83 | chrX | 53551596 | ||||||
| chrX:53551805
|
G | A | 1 | a0001c0001t0001g0098 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.8882-325C>T | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 63/83 | chrX | 53551805 | ||||||
| chrX:53552252
|
C | A | 1 | a0001c0001t0011g0008 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.8881+59G>T | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 63/83 | chrX | 53552252 | ||||||
| chrX:53552487
|
G | A | 1 | a0001c0002t0002g0123 | 1 | NA18942.hp1 | intron_variant | MODIFIER | c.8751-46C>T | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 62/83 | chrX | 53552487 | ||||||
| chrX:53552551
|
A | G | 2 | a0001c0002t0002g0183a0001c0015t0002g0130 | 2 | HG02135.hp1 NA18961.hp1 |
intron_variant | MODIFIER | c.8750+87T>C | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 62/83 | chrX | 53552551 | ||||||
| chrX:53552570
|
C | T | 2 | a0001c0003t0002g0132a0001c0003t0002g0170 | 2 | NA18983.hp1 NA18985.hp1 |
intron_variant | MODIFIER | c.8750+68G>A | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 62/83 | chrX | 53552570 | ||||||
| chrX:53553050
|
T | C | 1 | a0001c0001t0001g0084 | 1 | NA18962.hp1 | intron_variant | MODIFIER | c.8495-157A>G | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 61/83 | chrX | 53553050 | ||||||
| chrX:53553289
|
C | T | 2 | a0001c0001t0003g0016a0001c0001t0003g0017 | 2 | HG00738.hp1 NA18522.hp1 |
intron_variant | MODIFIER | c.8495-396G>A | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 61/83 | chrX | 53553289 | ||||||
| chrX:53553301
|
C | T | 2 | a0001c0004t0003g0010a0001c0004t0003g0011 | 2 | HG02809.hp1 HG03579.hp1 |
intron_variant | MODIFIER | c.8495-408G>A | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 61/83 | chrX | 53553301 | ||||||
| chrX:53553613
|
A | C | 4 | a0001c0001t0011g0008a0001c0008t0004g0208a0001c0019t0003g0029others(1): Show | 4 | HG01884.hp1 HG02559.hp1 HG02622.hp1 others(1): Show |
intron_variant | MODIFIER | c.8495-720T>G | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 61/83 | chrX | 53553613 | ||||||
| chrX:53553863
|
G | GA | 1 | a0005c0012t0016g0181 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.8494+769dupT | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 61/83 | chrX | 53553863 | ||||||
| chrX:53554008
|
T | G | 1 | a0001c0002t0003g0024 | 1 | NA18952.hp1 | intron_variant | MODIFIER | c.8494+625A>C | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 61/83 | chrX | 53554008 | ||||||
| chrX:53554045
|
G | A | 1 | a0001c0019t0003g0029 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.8494+588C>T | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 61/83 | chrX | 53554045 | ||||||
| chrX:53554152
|
C | T | 3 | a0001c0008t0004g0208a0001c0019t0003g0029a0001c0020t0003g0030 | 3 | HG01884.hp1 HG02559.hp1 HG02622.hp1 |
intron_variant | MODIFIER | c.8494+481G>A | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 61/83 | chrX | 53554152 | ||||||
| chrX:53554183
|
G | C | 1 | a0001c0020t0003g0030 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.8494+450C>G | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 61/83 | chrX | 53554183 | ||||||
| chrX:53554295
|
A | G | 1 | a0001c0001t0011g0008 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.8494+338T>C | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 61/83 | chrX | 53554295 | ||||||
| chrX:53554296
|
T | C | 1 | a0001c0001t0003g0036 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.8494+337A>G | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 61/83 | chrX | 53554296 | ||||||
| chrX:53555481
|
A | G | 1 | a0001c0001t0003g0016 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.8207-561T>C | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 60/83 | chrX | 53555481 | ||||||
| chrX:53555578
|
C | T | 1 | a0001c0001t0011g0008 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.8207-658G>A | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 60/83 | chrX | 53555578 | ||||||
| chrX:53555634
|
A | T | 1 | a0005c0012t0016g0181 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.8207-714T>A | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 60/83 | chrX | 53555634 | ||||||
| chrX:53555635
|
T | C | 1 | a0005c0012t0016g0181 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.8207-715A>G | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 60/83 | chrX | 53555635 | ||||||
| chrX:53555636
|
C | CT | 12 | a0001c0001t0001g0107a0001c0001t0003g0026a0001c0001t0003g0043others(9): Show | 12 | HG01884.hp1 HG02148.hp2 HG02572.hp1 others(9): Show |
intron_variant | MODIFIER | c.8207-717dupA | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 60/83 | chrX | 53555636 | ||||||
| chrX:53555636
|
C | CTT | 1 | a0001c0019t0003g0029 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.8207-718_8207-717d others(4): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 60/83 | chrX | 53555636 | ||||||
| chrX:53555636
|
C | T | 1 | a0005c0012t0016g0181 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.8207-716G>A | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 60/83 | chrX | 53555636 | ||||||
| chrX:53555636
|
CT | C | 5 | a0001c0001t0003g0059a0001c0001t0004g0185a0001c0004t0003g0010others(2): Show | 5 | HG02809.hp1 HG03041.hp1 HG03041.hp2 others(2): Show |
intron_variant | MODIFIER | c.8207-717delA | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 60/83 | chrX | 53555636 | ||||||
| chrX:53555673
|
GCT | G | 2 | a0001c0001t0003g0057a0001c0001t0003g0058 | 2 | HG01243.hp1 HG02615.hp2 |
intron_variant | MODIFIER | c.8207-755_8207-754d others(4): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 60/83 | chrX | 53555673 | ||||||
| chrX:53555734
|
TG | T | 1 | a0005c0012t0016g0181 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.8207-815delC | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 60/83 | chrX | 53555734 | ||||||
| chrX:53555763
|
T | A | 1 | a0001c0002t0005g0122 | 1 | HG01978.hp2 | intron_variant | MODIFIER | c.8207-843A>T | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 60/83 | chrX | 53555763 | ||||||
| chrX:53555841
|
C | T | 1 | a0001c0002t0002g0175 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.8207-921G>A | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 60/83 | chrX | 53555841 | ||||||
| chrX:53555932
|
T | C | 2 | a0001c0019t0003g0029a0001c0020t0003g0030 | 2 | HG01884.hp1 HG02559.hp1 |
intron_variant | MODIFIER | c.8207-1012A>G | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 60/83 | chrX | 53555932 | ||||||
| chrX:53556000
|
T | TA | 1 | a0005c0012t0016g0181 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.8207-1081dupT | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 60/83 | chrX | 53556000 | ||||||
| chrX:53556115
|
A | AC | 1 | a0005c0012t0016g0181 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.8207-1196dupG | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 60/83 | chrX | 53556115 | ||||||
| chrX:53556127
|
A | G | 1 | a0001c0001t0001g0104 | 1 | NA19079.hp1 | intron_variant | MODIFIER | c.8207-1207T>C | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 60/83 | chrX | 53556127 | ||||||
| chrX:53556732
|
T | TA | 1 | a0005c0012t0016g0181 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.8206+649dupT | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 60/83 | chrX | 53556732 | ||||||
| chrX:53556750
|
A | G | 1 | a0001c0015t0002g0130 | 1 | NA18961.hp1 | intron_variant | MODIFIER | c.8206+632T>C | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 60/83 | chrX | 53556750 | ||||||
| chrX:53556774
|
A | AG | 1 | a0005c0012t0016g0181 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.8206+607dupC | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 60/83 | chrX | 53556774 | ||||||
| chrX:53556941
|
A | AT | 1 | a0005c0012t0016g0181 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.8206+440dupA | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 60/83 | chrX | 53556941 | ||||||
| chrX:53557011
|
A | AC | 1 | a0005c0012t0016g0181 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.8206+370dupG | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 60/83 | chrX | 53557011 | ||||||
| chrX:53557197
|
G | A | 1 | a0005c0012t0016g0181 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.8206+185C>T | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 60/83 | chrX | 53557197 | ||||||
| chrX:53557300
|
A | C | 1 | a0001c0005t0008g0027 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.8206+82T>G | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 60/83 | chrX | 53557300 | ||||||
| chrX:53557447
|
AC | A | 1 | a0005c0012t0016g0181 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.8161-21delG | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 59/83 | chrX | 53557447 | ||||||
| chrX:53557457
|
G | A | 45 | a0001c0001t0001g0073a0001c0001t0001g0074a0001c0001t0001g0075others(42): Show | 46 | HG00438.hp1 HG00597.hp1 HG00609.hp1 others(43): Show |
intron_variant | MODIFIER | c.8161-30C>T | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 59/83 | chrX | 53557457 | ||||||
| chrX:53557589
|
C | CA | 1 | a0005c0012t0016g0181 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.8161-163dupT | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 59/83 | chrX | 53557589 | ||||||
| chrX:53557647
|
G | A | 1 | a0001c0002t0017g0138 | 1 | HG00673.hp1 | intron_variant | MODIFIER | c.8161-220C>T | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 59/83 | chrX | 53557647 | ||||||
| chrX:53557657
|
A | AT | 1 | a0005c0012t0016g0181 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.8161-231dupA | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 59/83 | chrX | 53557657 | ||||||
| chrX:53558348
|
A | ATATC | 1 | a0001c0001t0004g0186 | 1 | HG02080.hp1 | intron_variant | MODIFIER | c.8160+306_8160+307i others(6): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 59/83 | chrX | 53558348 | ||||||
| chrX:53558428
|
G | A | 1 | a0001c0001t0001g0093 | 1 | NA18990.hp1 | intron_variant | MODIFIER | c.8160+227C>T | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 59/83 | chrX | 53558428 | ||||||
| chrX:53558929
|
TG | T | 1 | a0005c0012t0016g0181 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.8005+41delC | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 58/83 | chrX | 53558929 | ||||||
| chrX:53559579
|
G | GC | 1 | a0005c0012t0016g0181 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.7737-48dupG | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 56/83 | chrX | 53559579 | ||||||
| chrX:53559604
|
C | T | 1 | a0001c0001t0001g0085 | 1 | HG03239.hp2 | intron_variant | MODIFIER | c.7737-72G>A | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 56/83 | chrX | 53559604 | ||||||
| chrX:53559850
|
CT | C | 1 | a0005c0012t0016g0181 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.7737-319delA | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 56/83 | chrX | 53559850 | ||||||
| chrX:53559909
|
T | TC | 1 | a0005c0012t0016g0181 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.7736+278dupG | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 56/83 | chrX | 53559909 | ||||||
| chrX:53559938
|
TG | T | 1 | a0005c0012t0016g0181 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.7736+249delC | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 56/83 | chrX | 53559938 | ||||||
| chrX:53560032
|
CAT | C | 4 | a0001c0004t0003g0010a0001c0004t0003g0011a0001c0004t0003g0012others(1): Show | 4 | HG02145.hp1 HG02809.hp1 HG03041.hp2 others(1): Show |
intron_variant | MODIFIER | c.7736+154_7736+155d others(4): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 56/83 | chrX | 53560032 | ||||||
| chrX:53560454
|
G | GA | 1 | a0005c0012t0016g0181 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.7508-39dupT | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 55/83 | chrX | 53560454 | ||||||
| chrX:53560545
|
TC | T | 1 | a0005c0012t0016g0181 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.7508-130delG | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 55/83 | chrX | 53560545 | ||||||
| chrX:53560616
|
G | A | 1 | a0001c0019t0003g0029 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.7508-200C>T | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 55/83 | chrX | 53560616 | ||||||
| chrX:53560893
|
G | A | 2 | a0001c0001t0003g0033a0001c0001t0008g0048 | 2 | HG01167.hp1 HG01169.hp2 |
intron_variant | MODIFIER | c.7508-477C>T | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 55/83 | chrX | 53560893 | ||||||
| chrX:53561008
|
GA | G | 1 | a0005c0012t0016g0181 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.7508-593delT | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 55/83 | chrX | 53561008 | ||||||
| chrX:53561035
|
T | C | 1 | a0001c0005t0008g0027 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.7508-619A>G | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 55/83 | chrX | 53561035 | ||||||
| chrX:53561137
|
CA | C | 1 | a0005c0012t0016g0181 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.7507+618delT | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 55/83 | chrX | 53561137 | ||||||
| chrX:53561277
|
TG | T | 1 | a0005c0012t0016g0181 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.7507+478delC | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 55/83 | chrX | 53561277 | ||||||
| chrX:53561402
|
G | GT | 1 | a0005c0012t0016g0181 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.7507+353dupA | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 55/83 | chrX | 53561402 | ||||||
| chrX:53561533
|
GC | G | 1 | a0005c0012t0016g0181 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.7507+222delG | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 55/83 | chrX | 53561533 | ||||||
| chrX:53561583
|
T | TC | 1 | a0005c0012t0016g0181 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.7507+172dupG | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 55/83 | chrX | 53561583 | ||||||
| chrX:53561929
|
AG | A | 1 | a0005c0012t0016g0181 | 1 | NA18974.hp1 | splice_region_variant&intron_variant | LOW | c.7339-6delC | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 54/83 | chrX | 53561929 | ||||||
| chrX:53562100
|
TC | T | 1 | a0005c0012t0016g0181 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.7338+10delG | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 54/83 | chrX | 53562100 | ||||||
| chrX:53562104
|
C | CA | 1 | a0003c0016t0002g0119 | 1 | NA19083.hp1 | splice_region_variant&intron_variant | LOW | c.7338+6_7338+7insT | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 54/83 | chrX | 53562104 | ||||||
| chrX:53562288
|
GA | G | 1 | a0005c0012t0016g0181 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.7205-45delT | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 53/83 | chrX | 53562288 | ||||||
| chrX:53562369
|
TG | T | 1 | a0005c0012t0016g0181 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.7205-126delC | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 53/83 | chrX | 53562369 | ||||||
| chrX:53562517
|
T | TG | 1 | a0005c0012t0016g0181 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.7205-274dupC | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 53/83 | chrX | 53562517 | ||||||
| chrX:53562526
|
C | T | 1 | a0001c0001t0001g0112 | 1 | HG02056.hp1 | intron_variant | MODIFIER | c.7205-282G>A | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 53/83 | chrX | 53562526 | ||||||
| chrX:53562562
|
C | G | 1 | a0001c0001t0003g0043 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.7204+269G>C | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 53/83 | chrX | 53562562 | ||||||
| chrX:53562615
|
C | T | 1 | a0001c0002t0002g0168 | 1 | NA18959.hp1 | intron_variant | MODIFIER | c.7204+216G>A | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 53/83 | chrX | 53562615 | ||||||
| chrX:53562633
|
A | AC | 1 | a0005c0012t0016g0181 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.7204+197dupG | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 53/83 | chrX | 53562633 | ||||||
| chrX:53562694
|
TG | T | 1 | a0005c0012t0016g0181 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.7204+136delC | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 53/83 | chrX | 53562694 | ||||||
| chrX:53562757
|
AG | A | 1 | a0005c0012t0016g0181 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.7204+73delC | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 53/83 | chrX | 53562757 | ||||||
| chrX:53563174
|
G | GA | 1 | a0005c0012t0016g0181 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.7106-246dupT | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 52/83 | chrX | 53563174 | ||||||
| chrX:53563410
|
TG | T | 1 | a0005c0012t0016g0181 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.7105+335delC | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 52/83 | chrX | 53563410 | ||||||
| chrX:53563469
|
TC | T | 1 | a0005c0012t0016g0181 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.7105+276delG | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 52/83 | chrX | 53563469 | ||||||
| chrX:53563838
|
C | CA | 1 | a0005c0012t0016g0181 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.7030-18dupT | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 51/83 | chrX | 53563838 | ||||||
| chrX:53563990
|
T | TG | 1 | a0005c0012t0016g0181 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.7030-170dupC | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 51/83 | chrX | 53563990 | ||||||
| chrX:53564031
|
T | C | 1 | a0001c0002t0003g0021 | 1 | HG00621.hp1 | intron_variant | MODIFIER | c.7030-210A>G | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 51/83 | chrX | 53564031 | ||||||
| chrX:53564060
|
A | T | 1 | a0005c0012t0016g0181 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.7030-239T>A | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 51/83 | chrX | 53564060 | ||||||
| chrX:53564111
|
C | T | 2 | a0001c0001t0003g0033a0001c0001t0008g0048 | 2 | HG01167.hp1 HG01169.hp2 |
intron_variant | MODIFIER | c.7030-290G>A | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 51/83 | chrX | 53564111 | ||||||
| chrX:53564121
|
A | T | 1 | a0005c0012t0016g0181 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.7030-300T>A | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 51/83 | chrX | 53564121 | ||||||
| chrX:53564382
|
G | GA | 1 | a0005c0012t0016g0181 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.7029+191_7029+192i others(3): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 51/83 | chrX | 53564382 | ||||||
| chrX:53564420
|
A | AT | 1 | a0005c0012t0016g0181 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.7029+153dupA | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 51/83 | chrX | 53564420 | ||||||
| chrX:53564564
|
GC | G | 1 | a0005c0012t0016g0181 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.7029+9delG | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 51/83 | chrX | 53564564 | ||||||
| chrX:53564572
|
A | AC | 1 | a0005c0012t0016g0181 | 1 | NA18974.hp1 | splice_donor_variant&intron_variant | HIGH | c.7029+1dupG | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 51/83 | chrX | 53564572 | ||||||
| chrX:53564776
|
AC | A | 1 | a0005c0012t0016g0181 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.6881-55delG | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 50/83 | chrX | 53564776 | ||||||
| chrX:53564788
|
G | GC | 1 | a0005c0012t0016g0181 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.6881-67dupG | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 50/83 | chrX | 53564788 | ||||||
| chrX:53564890
|
CA | C | 1 | a0005c0012t0016g0181 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.6881-169delT | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 50/83 | chrX | 53564890 | ||||||
| chrX:53564989
|
CA | C | 1 | a0005c0012t0016g0181 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.6880+77delT | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 50/83 | chrX | 53564989 | ||||||
| chrX:53565012
|
AG | A | 1 | a0005c0012t0016g0181 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.6880+54delC | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 50/83 | chrX | 53565012 | ||||||
| chrX:53565320
|
CA | C | 1 | a0005c0012t0016g0181 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.6708-82delT | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 49/83 | chrX | 53565320 | ||||||
| chrX:53565377
|
T | G | 1 | a0001c0001t0002g0149 | 1 | HG00558.hp1 | intron_variant | MODIFIER | c.6708-138A>C | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 49/83 | chrX | 53565377 | ||||||
| chrX:53565414
|
AG | A | 1 | a0005c0012t0016g0181 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.6708-176delC | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 49/83 | chrX | 53565414 | ||||||
| chrX:53565468
|
G | C | 1 | a0001c0001t0001g0103 | 1 | NA19087.hp1 | intron_variant | MODIFIER | c.6708-229C>G | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 49/83 | chrX | 53565468 | ||||||
| chrX:53565537
|
GC | G | 1 | a0005c0012t0016g0181 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.6708-299delG | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 49/83 | chrX | 53565537 | ||||||
| chrX:53565546
|
CG | C | 1 | a0005c0012t0016g0181 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.6708-308delC | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 49/83 | chrX | 53565546 | ||||||
| chrX:53565559
|
G | T | 1 | a0001c0001t0001g0111 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.6708-320C>A | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 49/83 | chrX | 53565559 | ||||||
| chrX:53565560
|
A | AT | 2 | a0001c0001t0001g0105a0005c0012t0016g0181 | 2 | NA18974.hp1 NA19086.hp1 |
intron_variant | MODIFIER | c.6708-322dupA | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 49/83 | chrX | 53565560 | ||||||
| chrX:53565560
|
AT | A | 6 | a0001c0001t0001g0072a0001c0001t0001g0085a0001c0001t0001g0092others(3): Show | 6 | HG01106.hp1 HG01517.hp2 HG03239.hp2 others(3): Show |
intron_variant | MODIFIER | c.6708-322delA | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 49/83 | chrX | 53565560 | ||||||
| chrX:53565577
|
A | AC | 1 | a0005c0012t0016g0181 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.6708-339dupG | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 49/83 | chrX | 53565577 | ||||||
| chrX:53565636
|
C | CT | 1 | a0001c0001t0004g0194 | 1 | NA18945.hp1 | intron_variant | MODIFIER | c.6708-398dupA | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 49/83 | chrX | 53565636 | ||||||
| chrX:53565703
|
C | CT | 1 | a0005c0012t0016g0181 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.6708-465dupA | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 49/83 | chrX | 53565703 | ||||||
| chrX:53565761
|
C | T | 1 | a0001c0019t0003g0029 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.6708-522G>A | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 49/83 | chrX | 53565761 | ||||||
| chrX:53565795
|
C | G | 1 | a0001c0001t0011g0008 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.6708-556G>C | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 49/83 | chrX | 53565795 | ||||||
| chrX:53565945
|
G | C | 1 | a0001c0008t0004g0208 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.6708-706C>G | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 49/83 | chrX | 53565945 | ||||||
| chrX:53565981
|
G | GGT | 1 | a0005c0012t0016g0181 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.6708-744_6708-743d others(4): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 49/83 | chrX | 53565981 | ||||||
| chrX:53566109
|
A | ATGTGTG | 2 | a0001c0001t0001g0098a0001c0007t0001g0108 | 2 | HG01192.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.6708-871_6708-870i others(8): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 49/83 | chrX | 53566109 | ||||||
| chrX:53566111
|
GTA | G | 1 | a0001c0001t0004g0200 | 1 | NA19088.hp1 | intron_variant | MODIFIER | c.6708-874_6708-873d others(4): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 49/83 | chrX | 53566111 | ||||||
| chrX:53566113
|
A | ATG | 11 | a0001c0001t0001g0076a0001c0001t0001g0092a0001c0001t0001g0094others(8): Show | 11 | HG01081.hp1 HG01981.hp2 HG02148.hp1 others(8): Show |
intron_variant | MODIFIER | c.6708-876_6708-875d others(4): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 49/83 | chrX | 53566113 | ||||||
| chrX:53566113
|
A | ATGTG | 51 | a0001c0001t0001g0063a0001c0001t0001g0064a0001c0001t0001g0069others(48): Show | 52 | HG00099.hp1 HG00438.hp1 HG00544.hp1 others(49): Show |
intron_variant | MODIFIER | c.6708-875_6708-874i others(6): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 49/83 | chrX | 53566113 | ||||||
| chrX:53566113
|
A | ATGTGTG | 3 | a0001c0001t0001g0070a0001c0001t0001g0071a0001c0001t0001g0083 | 3 | HG03017.hp1 HG03491.hp1 HG03704.hp1 |
intron_variant | MODIFIER | c.6708-875_6708-874i others(8): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 49/83 | chrX | 53566113 | ||||||
| chrX:53566113
|
A | G | 3 | a0001c0001t0001g0098a0001c0001t0003g0039a0001c0007t0001g0108 | 3 | HG01192.hp1 HG02486.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.6708-874T>C | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 49/83 | chrX | 53566113 | ||||||
| chrX:53566117
|
A | ATG | 4 | a0001c0001t0003g0038a0001c0001t0003g0046a0001c0001t0003g0049others(1): Show | 4 | HG02055.hp1 HG03516.hp2 NA20129.hp1 others(1): Show |
intron_variant | MODIFIER | c.6708-880_6708-879d others(4): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 49/83 | chrX | 53566117 | ||||||
| chrX:53566117
|
A | ATGTG | 1 | a0001c0001t0003g0053 | 1 | HG00735.hp2 | intron_variant | MODIFIER | c.6708-882_6708-879d others(6): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 49/83 | chrX | 53566117 | ||||||
| chrX:53566117
|
A | ATGTGTG | 1 | a0001c0001t0003g0036 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.6708-884_6708-879d others(8): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 49/83 | chrX | 53566117 | ||||||
| chrX:53566117
|
A | G | 95 | a0001c0001t0001g0063a0001c0001t0001g0064a0001c0001t0001g0069others(92): Show | 96 | HG00099.hp1 HG00438.hp1 HG00544.hp1 others(93): Show |
intron_variant | MODIFIER | c.6708-878T>C | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 49/83 | chrX | 53566117 | ||||||
| chrX:53566121
|
G | A | 3 | a0001c0002t0002g0123a0001c0002t0002g0168a0001c0020t0003g0030 | 3 | HG01884.hp1 NA18942.hp1 NA18959.hp1 |
intron_variant | MODIFIER | c.6708-882C>T | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 49/83 | chrX | 53566121 | ||||||
| chrX:53566129
|
G | A | 1 | a0001c0001t0003g0039 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.6708-890C>T | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 49/83 | chrX | 53566129 | ||||||
| chrX:53566131
|
G | A | 1 | a0001c0001t0003g0039 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.6708-892C>T | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 49/83 | chrX | 53566131 | ||||||
| chrX:53566133
|
G | A | 1 | a0001c0001t0003g0039 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.6708-894C>T | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 49/83 | chrX | 53566133 | ||||||
| chrX:53566133
|
G | GTA | 1 | a0001c0001t0011g0008 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.6708-896_6708-895d others(4): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 49/83 | chrX | 53566133 | ||||||
| chrX:53566133
|
G | GTATA | 1 | a0001c0005t0008g0027 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.6708-898_6708-895d others(6): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 49/83 | chrX | 53566133 | ||||||
| chrX:53566133
|
G | GTATATAT others(13): Show |
1 | a0001c0002t0002g0167 | 1 | HG02004.hp2 | intron_variant | MODIFIER | c.6708-914_6708-895d others(22): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 49/83 | chrX | 53566133 | ||||||
| chrX:53566133
|
G | GTGTA | 9 | a0001c0001t0003g0037a0001c0001t0003g0040a0001c0001t0003g0041others(6): Show | 9 | HG01243.hp1 HG01255.hp1 HG02559.hp2 others(6): Show |
intron_variant | MODIFIER | c.6708-895_6708-894i others(6): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 49/83 | chrX | 53566133 | ||||||
| chrX:53566133
|
G | GTGTATA | 42 | a0001c0001t0002g0177a0001c0001t0002g0178a0001c0001t0002g0179others(39): Show | 42 | HG00099.hp2 HG00323.hp1 HG00544.hp2 others(39): Show |
intron_variant | MODIFIER | c.6708-895_6708-894i others(8): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 49/83 | chrX | 53566133 | ||||||
| chrX:53566133
|
G | GTGTATAT others(1): Show |
23 | a0001c0001t0001g0113a0001c0001t0001g0114a0001c0002t0002g0136others(20): Show | 23 | HG00140.hp1 HG00280.hp1 HG00558.hp2 others(20): Show |
intron_variant | MODIFIER | c.6708-895_6708-894i others(10): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 49/83 | chrX | 53566133 | ||||||
| chrX:53566133
|
G | GTGTATAT others(3): Show |
13 | a0001c0001t0003g0031a0001c0001t0003g0033a0001c0001t0003g0052others(10): Show | 13 | HG00323.hp2 HG00642.hp1 HG01167.hp1 others(10): Show |
intron_variant | MODIFIER | c.6708-895_6708-894i others(12): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 49/83 | chrX | 53566133 | ||||||
| chrX:53566133
|
G | GTGTATAT others(5): Show |
7 | a0001c0001t0003g0035a0001c0001t0014g0034a0001c0002t0002g0141others(4): Show | 7 | HG00438.hp2 HG02083.hp1 HG02698.hp1 others(4): Show |
intron_variant | MODIFIER | c.6708-895_6708-894i others(14): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 49/83 | chrX | 53566133 | ||||||
| chrX:53566133
|
G | GTGTATAT others(7): Show |
8 | a0001c0001t0003g0016a0001c0001t0003g0032a0001c0002t0002g0159others(5): Show | 8 | HG00738.hp1 HG01261.hp1 HG01496.hp2 others(5): Show |
intron_variant | MODIFIER | c.6708-895_6708-894i others(16): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 49/83 | chrX | 53566133 | ||||||
| chrX:53566133
|
G | GTGTATAT others(9): Show |
1 | a0001c0002t0002g0183 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.6708-895_6708-894i others(18): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 49/83 | chrX | 53566133 | ||||||
| chrX:53566133
|
G | GTGTATAT others(13): Show |
1 | a0001c0002t0002g0160 | 1 | HG01071.hp2 | intron_variant | MODIFIER | c.6708-895_6708-894i others(22): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 49/83 | chrX | 53566133 | ||||||
| chrX:53566133
|
G | GTGTGTA | 10 | a0001c0001t0001g0080a0001c0001t0001g0084a0001c0001t0001g0085others(7): Show | 10 | HG00558.hp1 HG00733.hp1 HG01952.hp1 others(7): Show |
intron_variant | MODIFIER | c.6708-895_6708-894i others(8): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 49/83 | chrX | 53566133 | ||||||
| chrX:53566133
|
G | GTGTGTAT others(1): Show |
1 | a0001c0001t0001g0118 | 1 | HG00735.hp1 | intron_variant | MODIFIER | c.6708-895_6708-894i others(10): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 49/83 | chrX | 53566133 | ||||||
| chrX:53566133
|
G | GTGTGTAT others(3): Show |
3 | a0001c0001t0003g0055a0001c0001t0004g0203a0001c0002t0012g0020 | 3 | HG01106.hp1 HG01517.hp1 HG03209.hp1 |
intron_variant | MODIFIER | c.6708-895_6708-894i others(12): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 49/83 | chrX | 53566133 | ||||||
| chrX:53566133
|
G | GTGTGTAT others(5): Show |
3 | a0001c0001t0003g0044a0001c0001t0003g0054a0001c0001t0003g0056 | 3 | HG01934.hp1 HG02622.hp2 HG02717.hp1 |
intron_variant | MODIFIER | c.6708-895_6708-894i others(14): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 49/83 | chrX | 53566133 | ||||||
| chrX:53566133
|
G | GTGTGTGT others(1): Show |
2 | a0001c0001t0001g0088a0001c0009t0001g0077 | 2 | HG03139.hp1 NA19005.hp1 |
intron_variant | MODIFIER | c.6708-895_6708-894i others(10): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 49/83 | chrX | 53566133 | ||||||
| chrX:53566133
|
G | GTGTGTGT others(3): Show |
1 | a0001c0002t0002g0123 | 1 | NA18942.hp1 | intron_variant | MODIFIER | c.6708-895_6708-894i others(12): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 49/83 | chrX | 53566133 | ||||||
| chrX:53566133
|
G | GTGTGTGT others(7): Show |
1 | a0001c0002t0002g0168 | 1 | NA18959.hp1 | intron_variant | MODIFIER | c.6708-895_6708-894i others(16): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 49/83 | chrX | 53566133 | ||||||
| chrX:53566133
|
G | GTGTGTGT others(5): Show |
1 | a0001c0001t0006g0007 | 1 | HG03688.hp1 | intron_variant | MODIFIER | c.6708-895_6708-894i others(14): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 49/83 | chrX | 53566133 | ||||||
| chrX:53566133
|
GTA | G | 2 | a0001c0002t0005g0153a0001c0020t0003g0030 | 2 | HG00733.hp2 HG01884.hp1 |
intron_variant | MODIFIER | c.6708-896_6708-895d others(4): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 49/83 | chrX | 53566133 | ||||||
| chrX:53566133
|
GTATATA | G | 1 | a0001c0001t0003g0026 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.6708-900_6708-895d others(8): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 49/83 | chrX | 53566133 | ||||||
| chrX:53566135
|
A | G | 19 | a0001c0001t0001g0073a0001c0001t0001g0076a0001c0001t0001g0089others(16): Show | 19 | HG00609.hp1 HG01081.hp1 HG01981.hp2 others(16): Show |
intron_variant | MODIFIER | c.6708-896T>C | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 49/83 | chrX | 53566135 | ||||||
| chrX:53566137
|
A | G | 6 | a0001c0001t0001g0073a0001c0001t0001g0076a0001c0001t0001g0107others(3): Show | 6 | HG00609.hp1 HG00733.hp2 HG01884.hp1 others(3): Show |
intron_variant | MODIFIER | c.6708-898T>C | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 49/83 | chrX | 53566137 | ||||||
| chrX:53566139
|
A | G | 1 | a0001c0020t0003g0030 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.6708-900T>C | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 49/83 | chrX | 53566139 | ||||||
| chrX:53566141
|
A | G | 1 | a0001c0001t0003g0026 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.6708-902T>C | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 49/83 | chrX | 53566141 | ||||||
| chrX:53566173
|
G | GT | 1 | a0005c0012t0016g0181 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.6708-935dupA | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 49/83 | chrX | 53566173 | ||||||
| chrX:53566247
|
AG | A | 1 | a0005c0012t0016g0181 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.6708-1009delC | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 49/83 | chrX | 53566247 | ||||||
| chrX:53566277
|
C | T | 1 | a0001c0019t0003g0029 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.6708-1038G>A | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 49/83 | chrX | 53566277 | ||||||
| chrX:53566363
|
TG | T | 1 | a0005c0012t0016g0181 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.6708-1125delC | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 49/83 | chrX | 53566363 | ||||||
| chrX:53566407
|
C | CA | 1 | a0005c0012t0016g0181 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.6708-1169dupT | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 49/83 | chrX | 53566407 | ||||||
| chrX:53566458
|
A | G | 3 | a0001c0001t0003g0035a0001c0001t0003g0042a0001c0001t0014g0034 | 3 | HG02083.hp1 HG03130.hp1 NA18986.hp1 |
intron_variant | MODIFIER | c.6708-1219T>C | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 49/83 | chrX | 53566458 | ||||||
| chrX:53566523
|
G | GA | 1 | a0005c0012t0016g0181 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.6708-1285_6708-128 others(5): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 49/83 | chrX | 53566523 | ||||||
| chrX:53566549
|
C | G | 1 | a0001c0001t0001g0093 | 1 | NA18990.hp1 | intron_variant | MODIFIER | c.6708-1310G>C | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 49/83 | chrX | 53566549 | ||||||
| chrX:53566598
|
AG | A | 1 | a0005c0012t0016g0181 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.6708-1360delC | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 49/83 | chrX | 53566598 | ||||||
| chrX:53566625
|
A | AT | 1 | a0005c0012t0016g0181 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.6708-1387dupA | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 49/83 | chrX | 53566625 | ||||||
| chrX:53566692
|
TC | T | 1 | a0005c0012t0016g0181 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.6708-1454delG | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 49/83 | chrX | 53566692 | ||||||
| chrX:53566918
|
TA | T | 3 | a0001c0001t0001g0088a0001c0001t0001g0089a0001c0001t0001g0103 | 3 | NA19005.hp1 NA19072.hp1 NA19087.hp1 |
intron_variant | MODIFIER | c.6708-1680delT | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 49/83 | chrX | 53566918 | ||||||
| chrX:53566930
|
A | AT | 1 | a0005c0012t0016g0181 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.6708-1692dupA | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 49/83 | chrX | 53566930 | ||||||
| chrX:53566975
|
C | CA | 1 | a0005c0012t0016g0181 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.6707+1716dupT | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 49/83 | chrX | 53566975 | ||||||
| chrX:53566987
|
CCT | C | 1 | a0005c0012t0016g0181 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.6707+1703_6707+170 others(6): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 49/83 | chrX | 53566987 | ||||||
| chrX:53567038
|
A | G | 1 | a0001c0001t0003g0026 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.6707+1654T>C | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 49/83 | chrX | 53567038 | ||||||
| chrX:53567146
|
C | T | 1 | a0001c0001t0004g0190 | 1 | HG01978.hp1 | intron_variant | MODIFIER | c.6707+1546G>A | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 49/83 | chrX | 53567146 | ||||||
| chrX:53567240
|
A | AT | 1 | a0003c0016t0002g0119 | 1 | NA19083.hp1 | intron_variant | MODIFIER | c.6707+1451_6707+145 others(5): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 49/83 | chrX | 53567240 | ||||||
| chrX:53567286
|
G | GT | 1 | a0003c0016t0002g0119 | 1 | NA19083.hp1 | intron_variant | MODIFIER | c.6707+1405dupA | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 49/83 | chrX | 53567286 | ||||||
| chrX:53567376
|
G | A | 2 | a0001c0002t0002g0136a0001c0002t0002g0165 | 2 | HG03491.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.6707+1316C>T | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 49/83 | chrX | 53567376 | ||||||
| chrX:53567382
|
AT | A | 212 | a0001c0001t0001g0063a0001c0001t0001g0064a0001c0001t0001g0069others(209): Show | 213 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(210): Show |
intron_variant | MODIFIER | c.6707+1309delA | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 49/83 | chrX | 53567382 | ||||||
| chrX:53567479
|
TA | T | 1 | a0005c0012t0016g0181 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.6707+1212delT | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 49/83 | chrX | 53567479 | ||||||
| chrX:53567534
|
G | GA | 1 | a0003c0016t0002g0119 | 1 | NA19083.hp1 | intron_variant | MODIFIER | c.6707+1157dupT | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 49/83 | chrX | 53567534 | ||||||
| chrX:53567565
|
G | GA | 1 | a0003c0016t0002g0119 | 1 | NA19083.hp1 | intron_variant | MODIFIER | c.6707+1126dupT | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 49/83 | chrX | 53567565 | ||||||
| chrX:53567607
|
A | AG | 1 | a0003c0016t0002g0119 | 1 | NA19083.hp1 | intron_variant | MODIFIER | c.6707+1084_6707+108 others(5): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 49/83 | chrX | 53567607 | ||||||
| chrX:53567738
|
G | A | 3 | a0001c0001t0003g0035a0001c0001t0003g0052a0001c0001t0014g0034 | 3 | HG00323.hp2 HG02083.hp1 NA18986.hp1 |
intron_variant | MODIFIER | c.6707+954C>T | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 49/83 | chrX | 53567738 | ||||||
| chrX:53567820
|
TG | T | 1 | a0003c0016t0002g0119 | 1 | NA19083.hp1 | intron_variant | MODIFIER | c.6707+871delC | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 49/83 | chrX | 53567820 | ||||||
| chrX:53567838
|
C | T | 212 | a0001c0001t0001g0063a0001c0001t0001g0064a0001c0001t0001g0069others(209): Show | 213 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(210): Show |
intron_variant | MODIFIER | c.6707+854G>A | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 49/83 | chrX | 53567838 | ||||||
| chrX:53568068
|
A | G | 1 | a0001c0001t0001g0078 | 1 | NA18948.hp1 | intron_variant | MODIFIER | c.6707+624T>C | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 49/83 | chrX | 53568068 | ||||||
| chrX:53568157
|
G | T | 1 | a0003c0016t0002g0119 | 1 | NA19083.hp1 | intron_variant | MODIFIER | c.6707+535C>A | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 49/83 | chrX | 53568157 | ||||||
| chrX:53568160
|
T | G | 1 | a0003c0016t0002g0119 | 1 | NA19083.hp1 | intron_variant | MODIFIER | c.6707+532A>C | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 49/83 | chrX | 53568160 | ||||||
| chrX:53568332
|
G | GA | 1 | a0003c0016t0002g0119 | 1 | NA19083.hp1 | intron_variant | MODIFIER | c.6707+359dupT | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 49/83 | chrX | 53568332 | ||||||
| chrX:53568404
|
A | AT | 1 | a0003c0016t0002g0119 | 1 | NA19083.hp1 | intron_variant | MODIFIER | c.6707+287dupA | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 49/83 | chrX | 53568404 | ||||||
| chrX:53568875
|
C | CT | 1 | a0003c0016t0002g0119 | 1 | NA19083.hp1 | splice_acceptor_variant&intron_variant | HIGH | c.6525-2dupA | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 48/83 | chrX | 53568875 | ||||||
| chrX:53569138
|
C | T | 1 | a0001c0001t0003g0049 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.6525-264G>A | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 48/83 | chrX | 53569138 | ||||||
| chrX:53569184
|
G | A | 3 | a0001c0001t0003g0033a0001c0001t0003g0039a0001c0001t0008g0048 | 3 | HG01167.hp1 HG01169.hp2 HG02486.hp1 |
intron_variant | MODIFIER | c.6525-310C>T | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 48/83 | chrX | 53569184 | ||||||
| chrX:53569239
|
CA | C | 1 | a0003c0016t0002g0119 | 1 | NA19083.hp1 | intron_variant | MODIFIER | c.6525-366delT | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 48/83 | chrX | 53569239 | ||||||
| chrX:53569322
|
GC | G | 1 | a0003c0016t0002g0119 | 1 | NA19083.hp1 | intron_variant | MODIFIER | c.6524+293delG | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 48/83 | chrX | 53569322 | ||||||
| chrX:53569329
|
CT | C | 1 | a0003c0016t0002g0119 | 1 | NA19083.hp1 | intron_variant | MODIFIER | c.6524+286delA | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 48/83 | chrX | 53569329 | ||||||
| chrX:53569347
|
AT | A | 1 | a0003c0016t0002g0119 | 1 | NA19083.hp1 | intron_variant | MODIFIER | c.6524+268delA | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 48/83 | chrX | 53569347 | ||||||
| chrX:53569400
|
A | C | 2 | a0001c0001t0003g0035a0001c0001t0014g0034 | 2 | HG02083.hp1 NA18986.hp1 |
intron_variant | MODIFIER | c.6524+216T>G | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 48/83 | chrX | 53569400 | ||||||
| chrX:53569409
|
CT | C | 1 | a0003c0016t0002g0119 | 1 | NA19083.hp1 | intron_variant | MODIFIER | c.6524+206delA | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 48/83 | chrX | 53569409 | ||||||
| chrX:53569556
|
TAAG | T | 1 | a0001c0008t0004g0208 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.6524+57_6524+59del others(3): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 48/83 | chrX | 53569556 | ||||||
| chrX:53569986
|
C | CA | 1 | a0001c0002t0007g0211 | 1 | NA19082.hp1 | intron_variant | MODIFIER | c.6313-160dupT | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 47/83 | chrX | 53569986 | ||||||
| chrX:53570060
|
ACT | A | 2 | a0001c0001t0003g0038a0001c0001t0003g0060 | 2 | HG03098.hp1 NA20129.hp1 |
intron_variant | MODIFIER | c.6313-235_6313-234d others(4): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 47/83 | chrX | 53570060 | ||||||
| chrX:53570093
|
AT | A | 1 | a0003c0016t0002g0119 | 1 | NA19083.hp1 | intron_variant | MODIFIER | c.6313-267delA | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 47/83 | chrX | 53570093 | ||||||
| chrX:53570216
|
CTG | C | 34 | a0001c0001t0002g0177a0001c0001t0002g0178a0001c0001t0002g0179others(31): Show | 34 | HG00735.hp2 HG01081.hp2 HG01167.hp1 others(31): Show |
intron_variant | MODIFIER | c.6313-391_6313-390d others(4): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 47/83 | chrX | 53570216 | ||||||
| chrX:53570483
|
T | C | 1 | a0001c0002t0003g0019 | 1 | NA18946.hp2 | intron_variant | MODIFIER | c.6313-656A>G | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 47/83 | chrX | 53570483 | ||||||
| chrX:53570608
|
A | AT | 1 | a0001c0002t0007g0211 | 1 | NA19082.hp1 | intron_variant | MODIFIER | c.6313-782dupA | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 47/83 | chrX | 53570608 | ||||||
| chrX:53570764
|
TG | T | 1 | a0003c0016t0002g0119 | 1 | NA19083.hp1 | intron_variant | MODIFIER | c.6313-938delC | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 47/83 | chrX | 53570764 | ||||||
| chrX:53570802
|
GT | G | 1 | a0001c0002t0007g0211 | 1 | NA19082.hp1 | intron_variant | MODIFIER | c.6313-976delA | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 47/83 | chrX | 53570802 | ||||||
| chrX:53570831
|
A | G | 7 | a0001c0002t0005g0120a0001c0002t0005g0121a0001c0002t0005g0122others(4): Show | 7 | HG00099.hp2 HG00733.hp2 HG01169.hp1 others(4): Show |
intron_variant | MODIFIER | c.6313-1004T>C | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 47/83 | chrX | 53570831 | ||||||
| chrX:53570885
|
T | A | 1 | a0001c0002t0007g0211 | 1 | NA19082.hp1 | intron_variant | MODIFIER | c.6313-1058A>T | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 47/83 | chrX | 53570885 | ||||||
| chrX:53570887
|
TGA | T | 1 | a0001c0002t0002g0161 | 1 | HG01496.hp2 | intron_variant | MODIFIER | c.6313-1062_6313-106 others(6): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 47/83 | chrX | 53570887 | ||||||
| chrX:53570921
|
C | CA | 1 | a0001c0002t0007g0211 | 1 | NA19082.hp1 | intron_variant | MODIFIER | c.6313-1095dupT | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 47/83 | chrX | 53570921 | ||||||
| chrX:53571309
|
T | TA | 1 | a0001c0001t0001g0086 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.6313-1483dupT | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 47/83 | chrX | 53571309 | ||||||
| chrX:53571440
|
CA | C | 1 | a0003c0016t0002g0119 | 1 | NA19083.hp1 | intron_variant | MODIFIER | c.6313-1614delT | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 47/83 | chrX | 53571440 | ||||||
| chrX:53571463
|
T | C | 1 | a0001c0001t0003g0057 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.6313-1636A>G | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 47/83 | chrX | 53571463 | ||||||
| chrX:53571576
|
T | C | 4 | a0001c0004t0003g0010a0001c0004t0003g0011a0001c0004t0003g0012others(1): Show | 4 | HG02145.hp1 HG02809.hp1 HG03041.hp2 others(1): Show |
intron_variant | MODIFIER | c.6313-1749A>G | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 47/83 | chrX | 53571576 | ||||||
| chrX:53571597
|
T | TA | 1 | a0001c0002t0007g0211 | 1 | NA19082.hp1 | intron_variant | MODIFIER | c.6313-1771dupT | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 47/83 | chrX | 53571597 | ||||||
| chrX:53571675
|
TA | T | 1 | a0001c0002t0007g0211 | 1 | NA19082.hp1 | intron_variant | MODIFIER | c.6313-1849delT | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 47/83 | chrX | 53571675 | ||||||
| chrX:53571776
|
C | CA | 1 | a0001c0002t0007g0211 | 1 | NA19082.hp1 | intron_variant | MODIFIER | c.6313-1950dupT | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 47/83 | chrX | 53571776 | ||||||
| chrX:53571804
|
G | GT | 1 | a0001c0001t0001g0093 | 1 | NA18990.hp1 | intron_variant | MODIFIER | c.6312+1945dupA | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 47/83 | chrX | 53571804 | ||||||
| chrX:53571901
|
C | CA | 1 | a0001c0002t0007g0211 | 1 | NA19082.hp1 | intron_variant | MODIFIER | c.6312+1848dupT | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 47/83 | chrX | 53571901 | ||||||
| chrX:53571950
|
A | AC | 1 | a0001c0002t0007g0211 | 1 | NA19082.hp1 | intron_variant | MODIFIER | c.6312+1799dupG | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 47/83 | chrX | 53571950 | ||||||
| chrX:53571963
|
T | TG | 1 | a0001c0002t0007g0211 | 1 | NA19082.hp1 | intron_variant | MODIFIER | c.6312+1786dupC | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 47/83 | chrX | 53571963 | ||||||
| chrX:53572139
|
C | CA | 1 | a0001c0002t0007g0211 | 1 | NA19082.hp1 | intron_variant | MODIFIER | c.6312+1610dupT | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 47/83 | chrX | 53572139 | ||||||
| chrX:53572149
|
CA | C | 1 | a0001c0001t0001g0064 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.6312+1600delT | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 47/83 | chrX | 53572149 | ||||||
| chrX:53572153
|
A | G | 114 | a0001c0001t0002g0149a0001c0001t0002g0172a0001c0001t0002g0177others(111): Show | 114 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(111): Show |
intron_variant | MODIFIER | c.6312+1597T>C | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 47/83 | chrX | 53572153 | ||||||
| chrX:53572186
|
CA | C | 1 | a0001c0002t0007g0211 | 1 | NA19082.hp1 | intron_variant | MODIFIER | c.6312+1563delT | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 47/83 | chrX | 53572186 | ||||||
| chrX:53572236
|
C | CA | 1 | a0001c0002t0007g0211 | 1 | NA19082.hp1 | intron_variant | MODIFIER | c.6312+1513dupT | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 47/83 | chrX | 53572236 | ||||||
| chrX:53572249
|
G | A | 1 | a0001c0001t0003g0026 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.6312+1501C>T | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 47/83 | chrX | 53572249 | ||||||
| chrX:53572293
|
G | GA | 1 | a0001c0002t0007g0211 | 1 | NA19082.hp1 | intron_variant | MODIFIER | c.6312+1456_6312+145 others(5): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 47/83 | chrX | 53572293 | ||||||
| chrX:53572317
|
G | GC | 1 | a0001c0002t0007g0211 | 1 | NA19082.hp1 | intron_variant | MODIFIER | c.6312+1432_6312+143 others(5): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 47/83 | chrX | 53572317 | ||||||
| chrX:53572341
|
T | TA | 1 | a0001c0002t0007g0211 | 1 | NA19082.hp1 | intron_variant | MODIFIER | c.6312+1408dupT | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 47/83 | chrX | 53572341 | ||||||
| chrX:53572444
|
CT | C | 1 | a0001c0002t0007g0211 | 1 | NA19082.hp1 | intron_variant | MODIFIER | c.6312+1305delA | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 47/83 | chrX | 53572444 | ||||||
| chrX:53572485
|
GC | G | 1 | a0001c0002t0007g0211 | 1 | NA19082.hp1 | intron_variant | MODIFIER | c.6312+1264delG | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 47/83 | chrX | 53572485 | ||||||
| chrX:53572546
|
C | CA | 1 | a0001c0002t0007g0211 | 1 | NA19082.hp1 | intron_variant | MODIFIER | c.6312+1203dupT | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 47/83 | chrX | 53572546 | ||||||
| chrX:53572556
|
CA | C | 1 | a0001c0002t0007g0211 | 1 | NA19082.hp1 | intron_variant | MODIFIER | c.6312+1193delT | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 47/83 | chrX | 53572556 | ||||||
| chrX:53572557
|
A | G | 2 | a0001c0002t0002g0183a0001c0015t0002g0130 | 2 | HG02135.hp1 NA18961.hp1 |
intron_variant | MODIFIER | c.6312+1193T>C | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 47/83 | chrX | 53572557 | ||||||
| chrX:53572602
|
G | A | 1 | a0001c0002t0007g0211 | 1 | NA19082.hp1 | intron_variant | MODIFIER | c.6312+1148C>T | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 47/83 | chrX | 53572602 | ||||||
| chrX:53572603
|
A | G | 1 | a0001c0002t0007g0211 | 1 | NA19082.hp1 | intron_variant | MODIFIER | c.6312+1147T>C | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 47/83 | chrX | 53572603 | ||||||
| chrX:53572607
|
T | C | 9 | a0001c0001t0002g0172a0001c0003t0001g0068a0001c0003t0002g0125others(6): Show | 9 | HG00544.hp2 HG02027.hp1 HG02080.hp2 others(6): Show |
intron_variant | MODIFIER | c.6312+1143A>G | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 47/83 | chrX | 53572607 | ||||||
| chrX:53572640
|
T | TA | 1 | a0001c0001t0011g0008 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.6312+1109dupT | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 47/83 | chrX | 53572640 | ||||||
| chrX:53572685
|
C | CTG | 1 | a0001c0002t0007g0211 | 1 | NA19082.hp1 | intron_variant | MODIFIER | c.6312+1064_6312+106 others(6): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 47/83 | chrX | 53572685 | ||||||
| chrX:53572723
|
C | CCT | 1 | a0001c0001t0001g0089 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.6312+1025_6312+102 others(6): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 47/83 | chrX | 53572723 | ||||||
| chrX:53572786
|
TG | T | 1 | a0001c0002t0007g0211 | 1 | NA19082.hp1 | intron_variant | MODIFIER | c.6312+963delC | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 47/83 | chrX | 53572786 | ||||||
| chrX:53572957
|
A | C | 1 | a0001c0002t0007g0211 | 1 | NA19082.hp1 | intron_variant | MODIFIER | c.6312+793T>G | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 47/83 | chrX | 53572957 | ||||||
| chrX:53573017
|
A | AT | 1 | a0001c0002t0007g0211 | 1 | NA19082.hp1 | intron_variant | MODIFIER | c.6312+732dupA | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 47/83 | chrX | 53573017 | ||||||
| chrX:53573079
|
C | CA | 1 | a0001c0001t0001g0089 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.6312+670dupT | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 47/83 | chrX | 53573079 | ||||||
| chrX:53573179
|
C | T | 4 | a0001c0004t0003g0010a0001c0004t0003g0011a0001c0004t0003g0012others(1): Show | 4 | HG02145.hp1 HG02809.hp1 HG03041.hp2 others(1): Show |
intron_variant | MODIFIER | c.6312+571G>A | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 47/83 | chrX | 53573179 | ||||||
| chrX:53573204
|
C | T | 2 | a0001c0001t0001g0081a0001c0001t0001g0097 | 2 | NA18967.hp1 NA18971.hp1 |
intron_variant | MODIFIER | c.6312+546G>A | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 47/83 | chrX | 53573204 | ||||||
| chrX:53573246
|
G | GT | 4 | a0001c0002t0003g0021a0001c0002t0007g0211a0001c0008t0004g0208others(1): Show | 4 | HG00621.hp1 HG02622.hp1 HG03139.hp1 others(1): Show |
intron_variant | MODIFIER | c.6312+503dupA | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 47/83 | chrX | 53573246 | ||||||
| chrX:53573268
|
G | A | 1 | a0001c0001t0003g0026 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.6312+482C>T | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 47/83 | chrX | 53573268 | ||||||
| chrX:53573314
|
TGCAATCT others(26): Show |
T | 2 | a0001c0019t0003g0029a0001c0020t0003g0030 | 2 | HG01884.hp1 HG02559.hp1 |
intron_variant | MODIFIER | c.6312+403_6312+435d others(35): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 47/83 | chrX | 53573314 | ||||||
| chrX:53573322
|
T | C | 1 | a0001c0001t0011g0008 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.6312+428A>G | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 47/83 | chrX | 53573322 | ||||||
| chrX:53573479
|
T | C | 1 | a0001c0001t0001g0089 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.6312+271A>G | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 47/83 | chrX | 53573479 | ||||||
| chrX:53573555
|
G | C | 1 | a0001c0002t0003g0025 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.6312+195C>G | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 47/83 | chrX | 53573555 | ||||||
| chrX:53574214
|
C | T | 4 | a0001c0001t0003g0040a0001c0001t0003g0041a0001c0001t0003g0042others(1): Show | 4 | HG01255.hp1 HG02809.hp2 HG02965.hp1 others(1): Show |
intron_variant | MODIFIER | c.6098-250G>A | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 46/83 | chrX | 53574214 | ||||||
| chrX:53574284
|
G | A | 2 | a0001c0019t0003g0029a0001c0020t0003g0030 | 2 | HG01884.hp1 HG02559.hp1 |
intron_variant | MODIFIER | c.6098-320C>T | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 46/83 | chrX | 53574284 | ||||||
| chrX:53574864
|
A | G | 1 | a0001c0002t0002g0175 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.6097+291T>C | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 46/83 | chrX | 53574864 | ||||||
| chrX:53575030
|
A | C | 89 | a0001c0001t0002g0149a0001c0001t0002g0172a0001c0001t0003g0035others(86): Show | 89 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(86): Show |
intron_variant | MODIFIER | c.6097+125T>G | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 46/83 | chrX | 53575030 | ||||||
| chrX:53575148
|
T | G | 1 | a0001c0009t0001g0077 | 1 | HG03139.hp1 | splice_region_variant&intron_variant | LOW | c.6097+7A>C | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 46/83 | chrX | 53575148 | ||||||
| chrX:53575225
|
A | T | 3 | a0001c0008t0004g0208a0001c0019t0003g0029a0001c0020t0003g0030 | 3 | HG01884.hp1 HG02559.hp1 HG02622.hp1 |
splice_region_variant&intron_variant | LOW | c.6031-4T>A | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 45/83 | chrX | 53575225 | ||||||
| chrX:53575269
|
C | T | 1 | a0001c0001t0001g0075 | 1 | NA19000.hp1 | intron_variant | MODIFIER | c.6031-48G>A | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 45/83 | chrX | 53575269 | ||||||
| chrX:53575377
|
G | A | 1 | a0001c0001t0001g0085 | 1 | HG03239.hp2 | intron_variant | MODIFIER | c.6031-156C>T | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 45/83 | chrX | 53575377 | ||||||
| chrX:53575468
|
G | GA | 1 | a0001c0001t0001g0064 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.6030+174dupT | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 45/83 | chrX | 53575468 | ||||||
| chrX:53575472
|
GA | G | 1 | a0001c0001t0001g0064 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.6030+170delT | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 45/83 | chrX | 53575472 | ||||||
| chrX:53575482
|
T | G | 5 | a0001c0002t0002g0134a0001c0002t0002g0141a0001c0002t0002g0142others(2): Show | 5 | HG01109.hp1 HG02698.hp1 HG03239.hp1 others(2): Show |
intron_variant | MODIFIER | c.6030+161A>C | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 45/83 | chrX | 53575482 | ||||||
| chrX:53575796
|
A | G | 3 | a0001c0001t0001g0073a0001c0001t0001g0105a0001c0001t0002g0149 | 3 | HG00558.hp1 HG00609.hp1 NA19086.hp1 |
splice_region_variant&intron_variant | LOW | c.5885-8T>C | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 44/83 | chrX | 53575796 | ||||||
| chrX:53575838
|
T | A | 1 | a0001c0009t0001g0077 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.5885-50A>T | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 44/83 | chrX | 53575838 | ||||||
| chrX:53575951
|
C | T | 1 | a0001c0001t0003g0017 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.5885-163G>A | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 44/83 | chrX | 53575951 | ||||||
| chrX:53576324
|
T | C | 1 | a0001c0001t0003g0047 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.5885-536A>G | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 44/83 | chrX | 53576324 | ||||||
| chrX:53576573
|
G | A | 1 | a0001c0001t0001g0091 | 1 | HG02015.hp1 | intron_variant | MODIFIER | c.5884+327C>T | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 44/83 | chrX | 53576573 | ||||||
| chrX:53577154
|
A | G | 4 | a0001c0001t0011g0008a0001c0008t0004g0208a0001c0019t0003g0029others(1): Show | 4 | HG01884.hp1 HG02559.hp1 HG02622.hp1 others(1): Show |
intron_variant | MODIFIER | c.5717-87T>C | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 43/83 | chrX | 53577154 | ||||||
| chrX:53577272
|
G | C | 1 | a0003c0016t0002g0119 | 1 | NA19083.hp1 | intron_variant | MODIFIER | c.5717-205C>G | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 43/83 | chrX | 53577272 | ||||||
| chrX:53577284
|
GT | G | 1 | a0001c0001t0001g0064 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.5717-218delA | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 43/83 | chrX | 53577284 | ||||||
| chrX:53577310
|
AGTT | A | 1 | a0001c0001t0001g0082 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.5717-246_5717-244d others(5): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 43/83 | chrX | 53577310 | ||||||
| chrX:53577311
|
G | C | 2 | a0001c0001t0003g0057a0001c0001t0003g0058 | 2 | HG01243.hp1 HG02615.hp2 |
intron_variant | MODIFIER | c.5717-244C>G | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 43/83 | chrX | 53577311 | ||||||
| chrX:53577415
|
TG | T | 86 | a0001c0001t0001g0063a0001c0001t0001g0064a0001c0001t0001g0069others(83): Show | 87 | HG00099.hp1 HG00438.hp1 HG00544.hp1 others(84): Show |
intron_variant | MODIFIER | c.5717-349delC | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 43/83 | chrX | 53577415 | ||||||
| chrX:53577437
|
TC | T | 1 | a0001c0001t0001g0064 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.5717-371delG | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 43/83 | chrX | 53577437 | ||||||
| chrX:53577457
|
T | TA | 12 | a0001c0001t0001g0064a0001c0001t0001g0075a0001c0001t0003g0031others(9): Show | 12 | HG00673.hp1 HG01256.hp1 HG01978.hp1 others(9): Show |
intron_variant | MODIFIER | c.5717-391dupT | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 43/83 | chrX | 53577457 | ||||||
| chrX:53577457
|
T | TAA | 3 | a0001c0001t0003g0016a0001c0001t0003g0017a0001c0001t0003g0044 | 3 | HG00738.hp1 HG02622.hp2 NA18522.hp1 |
intron_variant | MODIFIER | c.5717-392_5717-391d others(4): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 43/83 | chrX | 53577457 | ||||||
| chrX:53577457
|
T | TAAAAAAA | 1 | a0001c0008t0004g0208 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.5717-397_5717-391d others(9): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 43/83 | chrX | 53577457 | ||||||
| chrX:53577457
|
T | TAAAAAAA others(1): Show |
1 | a0001c0001t0011g0008 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.5717-398_5717-391d others(10): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 43/83 | chrX | 53577457 | ||||||
| chrX:53577457
|
T | TAAAAAAA others(2): Show |
1 | a0001c0019t0003g0029 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.5717-399_5717-391d others(11): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 43/83 | chrX | 53577457 | ||||||
| chrX:53577457
|
TA | T | 2 | a0001c0002t0007g0209a0001c0003t0002g0132 | 2 | HG00597.hp2 NA18983.hp1 |
intron_variant | MODIFIER | c.5717-391delT | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 43/83 | chrX | 53577457 | ||||||
| chrX:53577468
|
A | AAAAAAAA others(2): Show |
1 | a0001c0020t0003g0030 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.5717-410_5717-402d others(11): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 43/83 | chrX | 53577468 | ||||||
| chrX:53577479
|
CCCTCTCC others(2): Show |
C | 2 | a0001c0001t0004g0190a0001c0008t0004g0208 | 2 | HG01978.hp1 HG02622.hp1 |
intron_variant | MODIFIER | c.5717-421_5717-413d others(11): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 43/83 | chrX | 53577479 | ||||||
| chrX:53577494
|
CCCT | C | 1 | a0001c0013t0001g0066 | 1 | HG00741.hp2 | intron_variant | MODIFIER | c.5717-430_5717-428d others(5): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 43/83 | chrX | 53577494 | ||||||
| chrX:53577497
|
TCCTCTC | T | 1 | a0001c0001t0004g0202 | 1 | HG00733.hp1 | intron_variant | MODIFIER | c.5717-436_5717-431d others(8): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 43/83 | chrX | 53577497 | ||||||
| chrX:53577520
|
TCCCTCC | T | 4 | a0001c0001t0001g0078a0001c0001t0001g0079a0001c0001t0001g0080others(1): Show | 4 | NA18944.hp1 NA18948.hp1 NA18982.hp1 others(1): Show |
intron_variant | MODIFIER | c.5717-459_5717-454d others(8): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 43/83 | chrX | 53577520 | ||||||
| chrX:53577522
|
C | CCTCT | 1 | a0001c0003t0002g0170 | 1 | NA18985.hp1 | intron_variant | MODIFIER | c.5717-456_5717-455i others(6): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 43/83 | chrX | 53577522 | ||||||
| chrX:53577522
|
C | CCTCTCCC others(5): Show |
7 | a0001c0002t0003g0009a0001c0002t0003g0019a0001c0002t0003g0021others(4): Show | 7 | HG00621.hp1 HG02647.hp1 NA18946.hp2 others(4): Show |
intron_variant | MODIFIER | c.5717-456_5717-455i others(14): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 43/83 | chrX | 53577522 | ||||||
| chrX:53577522
|
C | CCTCTCT | 67 | a0001c0002t0001g0065a0001c0002t0002g0123a0001c0002t0002g0126others(64): Show | 67 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(64): Show |
intron_variant | MODIFIER | c.5717-456_5717-455i others(8): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 43/83 | chrX | 53577522 | ||||||
| chrX:53577522
|
C | T | 133 | a0001c0001t0001g0063a0001c0001t0001g0064a0001c0001t0001g0069others(130): Show | 134 | HG00099.hp1 HG00323.hp2 HG00438.hp1 others(131): Show |
intron_variant | MODIFIER | c.5717-455G>A | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 43/83 | chrX | 53577522 | ||||||
| chrX:53577526
|
C | T | 1 | a0001c0003t0002g0170 | 1 | NA18985.hp1 | intron_variant | MODIFIER | c.5717-459G>A | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 43/83 | chrX | 53577526 | ||||||
| chrX:53577536
|
C | T | 1 | a0001c0001t0001g0074 | 1 | HG00438.hp1 | intron_variant | MODIFIER | c.5717-469G>A | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 43/83 | chrX | 53577536 | ||||||
| chrX:53577589
|
C | CT | 1 | a0001c0001t0001g0064 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.5717-523dupA | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 43/83 | chrX | 53577589 | ||||||
| chrX:53577642
|
C | T | 1 | a0001c0001t0011g0008 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.5717-575G>A | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 43/83 | chrX | 53577642 | ||||||
| chrX:53577691
|
G | GT | 74 | a0001c0001t0001g0063a0001c0001t0001g0069a0001c0001t0001g0070others(71): Show | 75 | HG00099.hp1 HG00438.hp1 HG00544.hp1 others(72): Show |
intron_variant | MODIFIER | c.5717-625dupA | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 43/83 | chrX | 53577691 | ||||||
| chrX:53577691
|
G | GTT | 18 | a0001c0001t0001g0064a0001c0001t0001g0073a0001c0001t0001g0081others(15): Show | 18 | HG00609.hp1 HG01517.hp2 HG01952.hp1 others(15): Show |
intron_variant | MODIFIER | c.5717-626_5717-625d others(4): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 43/83 | chrX | 53577691 | ||||||
| chrX:53577732
|
C | T | 1 | a0001c0002t0012g0020 | 1 | HG01517.hp1 | intron_variant | MODIFIER | c.5717-665G>A | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 43/83 | chrX | 53577732 | ||||||
| chrX:53577733
|
G | T | 3 | a0001c0001t0001g0100a0001c0001t0001g0101a0001c0001t0001g0102 | 3 | HG00099.hp1 HG01515.hp1 HG01517.hp2 |
intron_variant | MODIFIER | c.5717-666C>A | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 43/83 | chrX | 53577733 | ||||||
| chrX:53577755
|
C | T | 1 | a0001c0001t0001g0098 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.5717-688G>A | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 43/83 | chrX | 53577755 | ||||||
| chrX:53577776
|
G | C | 4 | a0001c0004t0003g0010a0001c0004t0003g0011a0001c0004t0003g0012others(1): Show | 4 | HG02145.hp1 HG02809.hp1 HG03041.hp2 others(1): Show |
intron_variant | MODIFIER | c.5717-709C>G | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 43/83 | chrX | 53577776 | ||||||
| chrX:53577829
|
T | C | 1 | a0001c0005t0008g0027 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.5717-762A>G | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 43/83 | chrX | 53577829 | ||||||
| chrX:53577891
|
G | T | 1 | a0001c0001t0004g0191 | 1 | NA18943.hp1 | intron_variant | MODIFIER | c.5717-824C>A | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 43/83 | chrX | 53577891 | ||||||
| chrX:53577918
|
G | C | 2 | a0001c0001t0001g0070a0001c0001t0001g0083 | 2 | HG03017.hp1 HG03704.hp1 |
intron_variant | MODIFIER | c.5717-851C>G | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 43/83 | chrX | 53577918 | ||||||
| chrX:53577942
|
A | AC | 1 | a0003c0016t0002g0119 | 1 | NA19083.hp1 | intron_variant | MODIFIER | c.5717-876dupG | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 43/83 | chrX | 53577942 | ||||||
| chrX:53577950
|
T | TG | 1 | a0001c0001t0001g0064 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.5717-884dupC | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 43/83 | chrX | 53577950 | ||||||
| chrX:53578041
|
G | C | 79 | a0001c0001t0002g0149a0001c0002t0001g0065a0001c0002t0002g0123others(76): Show | 79 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(76): Show |
intron_variant | MODIFIER | c.5717-974C>G | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 43/83 | chrX | 53578041 | ||||||
| chrX:53578052
|
G | GC | 1 | a0001c0002t0007g0211 | 1 | NA19082.hp1 | intron_variant | MODIFIER | c.5717-986dupG | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 43/83 | chrX | 53578052 | ||||||
| chrX:53578080
|
C | T | 1 | a0001c0002t0002g0129 | 1 | NA19068.hp1 | intron_variant | MODIFIER | c.5717-1013G>A | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 43/83 | chrX | 53578080 | ||||||
| chrX:53578092
|
G | A | 1 | a0001c0001t0003g0017 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.5717-1025C>T | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 43/83 | chrX | 53578092 | ||||||
| chrX:53578099
|
T | A | 1 | a0001c0001t0004g0190 | 1 | HG01978.hp1 | intron_variant | MODIFIER | c.5717-1032A>T | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 43/83 | chrX | 53578099 | ||||||
| chrX:53578121
|
A | G | 211 | a0001c0001t0001g0063a0001c0001t0001g0064a0001c0001t0001g0069others(208): Show | 212 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(209): Show |
intron_variant | MODIFIER | c.5717-1054T>C | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 43/83 | chrX | 53578121 | ||||||
| chrX:53578132
|
G | GGC | 1 | a0001c0001t0001g0064 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.5717-1066_5717-106 others(6): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 43/83 | chrX | 53578132 | ||||||
| chrX:53578173
|
C | T | 35 | a0001c0001t0002g0177a0001c0001t0002g0178a0001c0001t0002g0179others(32): Show | 35 | HG00323.hp2 HG00735.hp2 HG01081.hp2 others(32): Show |
intron_variant | MODIFIER | c.5717-1106G>A | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 43/83 | chrX | 53578173 | ||||||
| chrX:53578283
|
G | A | 1 | a0001c0001t0003g0050 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.5717-1216C>T | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 43/83 | chrX | 53578283 | ||||||
| chrX:53578322
|
C | T | 1 | a0001c0005t0008g0027 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.5717-1255G>A | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 43/83 | chrX | 53578322 | ||||||
| chrX:53578323
|
G | A | 1 | a0001c0001t0004g0204 | 1 | HG03942.hp1 | intron_variant | MODIFIER | c.5717-1256C>T | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 43/83 | chrX | 53578323 | ||||||
| chrX:53578334
|
A | ACCCCGTC others(443): Show |
1 | a0001c0001t0004g0185 | 1 | NA19076.hp1 | intron_variant | MODIFIER | c.5717-1717_5717-126 others(454): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 43/83 | chrX | 53578334 | ||||||
| chrX:53578342
|
T | C | 1 | a0001c0002t0002g0166 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.5717-1275A>G | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 43/83 | chrX | 53578342 | ||||||
| chrX:53578353
|
T | TG | 25 | a0001c0001t0001g0073a0001c0001t0001g0088a0001c0001t0001g0095others(22): Show | 25 | HG00323.hp2 HG00609.hp1 HG01081.hp1 others(22): Show |
intron_variant | MODIFIER | c.5717-1287dupC | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 43/83 | chrX | 53578353 | ||||||
| chrX:53578366
|
G | GC | 1 | a0001c0001t0001g0105 | 1 | NA19086.hp1 | intron_variant | MODIFIER | c.5717-1300dupG | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 43/83 | chrX | 53578366 | ||||||
| chrX:53578372
|
CGCCCGGC others(217): Show |
C | 2 | a0001c0019t0003g0029a0001c0020t0003g0030 | 2 | HG01884.hp1 HG02559.hp1 |
intron_variant | MODIFIER | c.5717-1529_5717-130 others(4): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 43/83 | chrX | 53578372 | ||||||
| chrX:53578375
|
C | A | 1 | a0001c0001t0011g0008 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.5717-1308G>T | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 43/83 | chrX | 53578375 | ||||||
| chrX:53578385
|
G | GC | 1 | a0001c0001t0001g0105 | 1 | NA19086.hp1 | intron_variant | MODIFIER | c.5717-1319dupG | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 43/83 | chrX | 53578385 | ||||||
| chrX:53578392
|
C | A | 1 | a0001c0002t0003g0019 | 1 | NA18946.hp2 | intron_variant | MODIFIER | c.5717-1325G>T | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 43/83 | chrX | 53578392 | ||||||
| chrX:53578436
|
G | A | 1 | a0001c0001t0001g0084 | 1 | NA18962.hp1 | intron_variant | MODIFIER | c.5717-1369C>T | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 43/83 | chrX | 53578436 | ||||||
| chrX:53578482
|
T | TG | 3 | a0001c0001t0001g0064a0001c0001t0001g0086a0001c0007t0001g0108 | 3 | HG01192.hp1 HG03831.hp2 NA19075.hp1 |
intron_variant | MODIFIER | c.5717-1416dupC | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 43/83 | chrX | 53578482 | ||||||
| chrX:53578531
|
T | TG | 3 | a0001c0002t0007g0209a0001c0002t0009g0169a0001c0007t0001g0108 | 3 | HG00597.hp2 HG01192.hp1 HG02738.hp1 |
intron_variant | MODIFIER | c.5717-1465dupC | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 43/83 | chrX | 53578531 | ||||||
| chrX:53578547
|
CGCCCGGC others(42): Show |
C | 1 | a0001c0004t0003g0012 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.5717-1529_5717-148 others(53): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 43/83 | chrX | 53578547 | ||||||
| chrX:53578572
|
A | AGGGGGG | 1 | a0001c0002t0002g0166 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.5717-1511_5717-150 others(10): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 43/83 | chrX | 53578572 | ||||||
| chrX:53578579
|
A | AG | 8 | a0001c0001t0001g0074a0001c0001t0001g0107a0001c0001t0001g0112others(5): Show | 8 | HG00438.hp1 HG00597.hp2 HG01099.hp1 others(5): Show |
intron_variant | MODIFIER | c.5717-1513dupC | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 43/83 | chrX | 53578579 | ||||||
| chrX:53578594
|
C | G | 3 | a0001c0004t0003g0010a0001c0004t0003g0011a0001c0004t0003g0013 | 3 | HG02809.hp1 HG03041.hp2 HG03579.hp1 |
intron_variant | MODIFIER | c.5717-1527G>C | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 43/83 | chrX | 53578594 | ||||||
| chrX:53578618
|
G | A | 1 | a0001c0001t0001g0098 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.5717-1551C>T | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 43/83 | chrX | 53578618 | ||||||
| chrX:53578632
|
G | A | 5 | a0001c0002t0002g0134a0001c0002t0002g0141a0001c0002t0002g0142others(2): Show | 5 | HG01109.hp1 HG02698.hp1 HG03239.hp1 others(2): Show |
intron_variant | MODIFIER | c.5717-1565C>T | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 43/83 | chrX | 53578632 | ||||||
| chrX:53578663
|
ATCCGGGA others(218): Show |
A | 3 | a0001c0001t0003g0016a0001c0001t0003g0017a0001c0001t0003g0026 | 3 | HG00738.hp1 NA18522.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.5717-1821_5717-159 others(4): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 43/83 | chrX | 53578663 | ||||||
| chrX:53578677
|
T | TG | 1 | a0001c0017t0007g0212 | 1 | HG04184.hp1 | intron_variant | MODIFIER | c.5717-1611dupC | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 43/83 | chrX | 53578677 | ||||||
| chrX:53578803
|
T | TG | 16 | a0001c0001t0001g0102a0001c0001t0001g0111a0001c0001t0003g0032others(13): Show | 16 | HG00597.hp1 HG00597.hp2 HG00673.hp1 others(13): Show |
intron_variant | MODIFIER | c.5717-1737dupC | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 43/83 | chrX | 53578803 | ||||||
| chrX:53578803
|
T | TGG | 1 | a0001c0017t0007g0212 | 1 | HG04184.hp1 | intron_variant | MODIFIER | c.5717-1738_5717-173 others(6): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 43/83 | chrX | 53578803 | ||||||
| chrX:53578803
|
TG | T | 1 | a0001c0001t0001g0084 | 1 | NA18962.hp1 | intron_variant | MODIFIER | c.5717-1737delC | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 43/83 | chrX | 53578803 | ||||||
| chrX:53578822
|
C | CGCCCGGC others(217): Show |
1 | a0001c0001t0001g0063 | 1 | NA20805.hp1 | intron_variant | MODIFIER | c.5717-1756_5717-175 others(228): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 43/83 | chrX | 53578822 | ||||||
| chrX:53578835
|
G | GCCCCGTC others(443): Show |
1 | a0001c0001t0001g0064 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.5717-1769_5717-176 others(454): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 43/83 | chrX | 53578835 | ||||||
| chrX:53578839
|
A | C | 1 | a0001c0001t0001g0063 | 1 | NA20805.hp1 | intron_variant | MODIFIER | c.5717-1772T>G | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 43/83 | chrX | 53578839 | ||||||
| chrX:53578854
|
T | TG | 1 | a0001c0001t0006g0004 | 1 | HG04184.hp2 | intron_variant | MODIFIER | c.5717-1788dupC | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 43/83 | chrX | 53578854 | ||||||
| chrX:53578854
|
T | TGGGGGGT others(121): Show |
1 | a0001c0003t0002g0162 | 1 | HG02080.hp2 | intron_variant | MODIFIER | c.5717-1788_5717-178 others(132): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 43/83 | chrX | 53578854 | ||||||
| chrX:53578859
|
G | GA | 1 | a0001c0001t0001g0063 | 1 | NA20805.hp1 | intron_variant | MODIFIER | c.5717-1793_5717-179 others(5): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 43/83 | chrX | 53578859 | ||||||
| chrX:53578864
|
GC | G | 1 | a0001c0002t0002g0131 | 1 | NA19063.hp1 | intron_variant | MODIFIER | c.5717-1798delG | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 43/83 | chrX | 53578864 | ||||||
| chrX:53578867
|
C | CCCCGCCC others(9): Show |
4 | a0001c0001t0003g0053a0001c0001t0003g0054a0001c0001t0003g0055others(1): Show | 4 | HG00735.hp2 HG01934.hp1 HG02717.hp1 others(1): Show |
intron_variant | MODIFIER | c.5717-1816_5717-180 others(20): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 43/83 | chrX | 53578867 | ||||||
| chrX:53578887
|
C | A | 1 | a0001c0003t0002g0162 | 1 | HG02080.hp2 | intron_variant | MODIFIER | c.5717-1820G>T | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 43/83 | chrX | 53578887 | ||||||
| chrX:53578888
|
G | A | 1 | a0001c0001t0001g0063 | 1 | NA20805.hp1 | intron_variant | MODIFIER | c.5717-1821C>T | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 43/83 | chrX | 53578888 | ||||||
| chrX:53578908
|
GA | G | 1 | a0001c0003t0002g0162 | 1 | HG02080.hp2 | intron_variant | MODIFIER | c.5717-1842delT | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 43/83 | chrX | 53578908 | ||||||
| chrX:53578909
|
A | G | 1 | a0001c0015t0002g0130 | 1 | NA18961.hp1 | intron_variant | MODIFIER | c.5717-1842T>C | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 43/83 | chrX | 53578909 | ||||||
| chrX:53578913
|
G | GC | 1 | a0001c0001t0001g0064 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.5717-1847dupG | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 43/83 | chrX | 53578913 | ||||||
| chrX:53578917
|
C | T | 1 | a0001c0015t0002g0130 | 1 | NA18961.hp1 | intron_variant | MODIFIER | c.5717-1850G>A | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 43/83 | chrX | 53578917 | ||||||
| chrX:53578923
|
T | C | 1 | a0001c0015t0002g0130 | 1 | NA18961.hp1 | intron_variant | MODIFIER | c.5717-1856A>G | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 43/83 | chrX | 53578923 | ||||||
| chrX:53578940
|
C | T | 1 | a0001c0015t0002g0130 | 1 | NA18961.hp1 | intron_variant | MODIFIER | c.5717-1873G>A | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 43/83 | chrX | 53578940 | ||||||
| chrX:53578989
|
AG | A | 1 | a0001c0001t0001g0063 | 1 | NA20805.hp1 | intron_variant | MODIFIER | c.5716+1841delC | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 43/83 | chrX | 53578989 | ||||||
| chrX:53579018
|
C | T | 1 | a0001c0001t0001g0063 | 1 | NA20805.hp1 | intron_variant | MODIFIER | c.5716+1813G>A | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 43/83 | chrX | 53579018 | ||||||
| chrX:53579029
|
C | CG | 169 | a0001c0001t0001g0069a0001c0001t0001g0070a0001c0001t0001g0073others(166): Show | 170 | HG00140.hp1 HG00280.hp1 HG00323.hp1 others(167): Show |
intron_variant | MODIFIER | c.5716+1801dupC | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 43/83 | chrX | 53579029 | ||||||
| chrX:53579029
|
C | CGG | 12 | a0001c0001t0001g0071a0001c0001t0001g0072a0001c0001t0001g0074others(9): Show | 12 | HG00438.hp1 HG00735.hp2 HG02602.hp1 others(9): Show |
intron_variant | MODIFIER | c.5716+1800_5716+180 others(6): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 43/83 | chrX | 53579029 | ||||||
| chrX:53579029
|
C | CGGG | 1 | a0001c0001t0003g0055 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.5716+1799_5716+180 others(7): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 43/83 | chrX | 53579029 | ||||||
| chrX:53579029
|
C | CGGGG | 1 | a0001c0009t0001g0077 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.5716+1798_5716+180 others(8): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 43/83 | chrX | 53579029 | ||||||
| chrX:53579029
|
C | T | 1 | a0001c0001t0001g0063 | 1 | NA20805.hp1 | intron_variant | MODIFIER | c.5716+1802G>A | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 43/83 | chrX | 53579029 | ||||||
| chrX:53579029
|
CG | C | 1 | a0001c0019t0003g0029 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.5716+1801delC | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 43/83 | chrX | 53579029 | ||||||
| chrX:53579038
|
G | GAGGTCGG others(162): Show |
1 | a0001c0007t0001g0108 | 1 | HG01192.hp1 | intron_variant | MODIFIER | c.5716+1792_5716+179 others(173): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 43/83 | chrX | 53579038 | ||||||
| chrX:53579038
|
G | GTCAGCCC others(51): Show |
1 | a0001c0001t0001g0063 | 1 | NA20805.hp1 | intron_variant | MODIFIER | c.5716+1792_5716+179 others(62): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 43/83 | chrX | 53579038 | ||||||
| chrX:53579040
|
G | C | 1 | a0001c0001t0001g0063 | 1 | NA20805.hp1 | intron_variant | MODIFIER | c.5716+1791C>G | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 43/83 | chrX | 53579040 | ||||||
| chrX:53579041
|
T | C | 1 | a0001c0001t0001g0063 | 1 | NA20805.hp1 | intron_variant | MODIFIER | c.5716+1790A>G | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 43/83 | chrX | 53579041 | ||||||
| chrX:53579070
|
T | TG | 2 | a0001c0001t0001g0107a0001c0017t0007g0212 | 2 | HG04184.hp1 NA18994.hp1 |
intron_variant | MODIFIER | c.5716+1760dupC | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 43/83 | chrX | 53579070 | ||||||
| chrX:53579077
|
G | A | 1 | a0001c0001t0001g0063 | 1 | NA20805.hp1 | intron_variant | MODIFIER | c.5716+1754C>T | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 43/83 | chrX | 53579077 | ||||||
| chrX:53579085
|
T | C | 1 | a0001c0001t0001g0063 | 1 | NA20805.hp1 | intron_variant | MODIFIER | c.5716+1746A>G | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 43/83 | chrX | 53579085 | ||||||
| chrX:53579091
|
C | T | 1 | a0001c0001t0001g0063 | 1 | NA20805.hp1 | intron_variant | MODIFIER | c.5716+1740G>A | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 43/83 | chrX | 53579091 | ||||||
| chrX:53579108
|
T | C | 1 | a0001c0001t0001g0063 | 1 | NA20805.hp1 | intron_variant | MODIFIER | c.5716+1723A>G | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 43/83 | chrX | 53579108 | ||||||
| chrX:53579109
|
GGGAGGTG others(119): Show |
G | 1 | a0001c0001t0001g0098 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.5716+1596_5716+172 others(4): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 43/83 | chrX | 53579109 | ||||||
| chrX:53579143
|
A | G | 2 | a0001c0001t0003g0045a0001c0001t0003g0059 | 2 | HG02572.hp1 HG03041.hp1 |
intron_variant | MODIFIER | c.5716+1688T>C | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 43/83 | chrX | 53579143 | ||||||
| chrX:53579157
|
A | AG | 1 | a0001c0001t0001g0063 | 1 | NA20805.hp1 | intron_variant | MODIFIER | c.5716+1673_5716+167 others(5): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 43/83 | chrX | 53579157 | ||||||
| chrX:53579196
|
T | C | 1 | a0001c0001t0001g0063 | 1 | NA20805.hp1 | intron_variant | MODIFIER | c.5716+1635A>G | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 43/83 | chrX | 53579196 | ||||||
| chrX:53579196
|
TG | T | 209 | a0001c0001t0001g0064a0001c0001t0001g0069a0001c0001t0001g0070others(206): Show | 210 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(207): Show |
intron_variant | MODIFIER | c.5716+1634delC | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 43/83 | chrX | 53579196 | ||||||
| chrX:53579197
|
G | GGGGGGGG others(34): Show |
1 | a0001c0001t0001g0063 | 1 | NA20805.hp1 | intron_variant | MODIFIER | c.5716+1633_5716+163 others(45): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 43/83 | chrX | 53579197 | ||||||
| chrX:53579211
|
C | CT | 1 | a0001c0001t0001g0063 | 1 | NA20805.hp1 | intron_variant | MODIFIER | c.5716+1619_5716+162 others(5): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 43/83 | chrX | 53579211 | ||||||
| chrX:53579295
|
T | C | 1 | a0001c0001t0003g0017 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.5716+1536A>G | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 43/83 | chrX | 53579295 | ||||||
| chrX:53579341
|
G | A | 2 | a0001c0001t0011g0008a0001c0002t0002g0166 | 2 | NA19030.hp1 NA20129.hp2 |
intron_variant | MODIFIER | c.5716+1490C>T | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 43/83 | chrX | 53579341 | ||||||
| chrX:53579423
|
G | A | 112 | a0001c0001t0002g0177a0001c0001t0002g0178a0001c0001t0002g0179others(109): Show | 112 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(109): Show |
intron_variant | MODIFIER | c.5716+1408C>T | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 43/83 | chrX | 53579423 | ||||||
| chrX:53579517
|
TG | T | 1 | a0001c0001t0001g0064 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.5716+1313delC | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 43/83 | chrX | 53579517 | ||||||
| chrX:53579755
|
TCGTTAAG others(2): Show |
T | 3 | a0001c0001t0006g0003a0001c0001t0006g0004a0001c0001t0010g0002 | 3 | HG02602.hp1 HG02735.hp1 HG04184.hp2 |
intron_variant | MODIFIER | c.5716+1067_5716+107 others(13): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 43/83 | chrX | 53579755 | ||||||
| chrX:53579757
|
G | A | 4 | a0001c0001t0001g0081a0001c0001t0001g0090a0001c0001t0001g0097others(1): Show | 4 | NA18612.hp1 NA18967.hp1 NA18971.hp1 others(1): Show |
intron_variant | MODIFIER | c.5716+1074C>T | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 43/83 | chrX | 53579757 | ||||||
| chrX:53579811
|
G | A | 2 | a0001c0001t0003g0038a0001c0001t0003g0060 | 2 | HG03098.hp1 NA20129.hp1 |
intron_variant | MODIFIER | c.5716+1020C>T | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 43/83 | chrX | 53579811 | ||||||
| chrX:53579944
|
T | TA | 7 | a0001c0001t0003g0043a0001c0002t0005g0120a0001c0002t0005g0122others(4): Show | 7 | HG00099.hp2 HG00733.hp2 HG01169.hp1 others(4): Show |
intron_variant | MODIFIER | c.5716+886dupT | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 43/83 | chrX | 53579944 | ||||||
| chrX:53579944
|
TA | T | 1 | a0001c0001t0001g0105 | 1 | NA19086.hp1 | intron_variant | MODIFIER | c.5716+886delT | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 43/83 | chrX | 53579944 | ||||||
| chrX:53579955
|
AAT | A | 1 | a0001c0001t0001g0064 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.5716+874_5716+875d others(4): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 43/83 | chrX | 53579955 | ||||||
| chrX:53579958
|
TA | T | 3 | a0001c0001t0002g0149a0001c0002t0002g0126a0001c0002t0002g0127 | 3 | HG00323.hp1 HG00558.hp1 HG01099.hp1 |
intron_variant | MODIFIER | c.5716+872delT | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 43/83 | chrX | 53579958 | ||||||
| chrX:53579959
|
A | T | 1 | a0001c0001t0001g0064 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.5716+872T>A | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 43/83 | chrX | 53579959 | ||||||
| chrX:53579966
|
A | T | 86 | a0001c0001t0001g0063a0001c0001t0001g0069a0001c0001t0001g0070others(83): Show | 87 | HG00099.hp1 HG00438.hp1 HG00544.hp1 others(84): Show |
intron_variant | MODIFIER | c.5716+865T>A | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 43/83 | chrX | 53579966 | ||||||
| chrX:53579967
|
A | T | 1 | a0001c0001t0001g0064 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.5716+864T>A | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 43/83 | chrX | 53579967 | ||||||
| chrX:53579969
|
AAT | A | 1 | a0001c0008t0004g0208 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.5716+860_5716+861d others(4): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 43/83 | chrX | 53579969 | ||||||
| chrX:53579971
|
T | A | 2 | a0001c0019t0003g0029a0001c0020t0003g0030 | 2 | HG01884.hp1 HG02559.hp1 |
intron_variant | MODIFIER | c.5716+860A>T | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 43/83 | chrX | 53579971 | ||||||
| chrX:53579972
|
A | T | 2 | a0001c0019t0003g0029a0001c0020t0003g0030 | 2 | HG01884.hp1 HG02559.hp1 |
intron_variant | MODIFIER | c.5716+859T>A | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 43/83 | chrX | 53579972 | ||||||
| chrX:53580011
|
C | T | 1 | a0001c0001t0003g0040 | 1 | HG02965.hp1 | intron_variant | MODIFIER | c.5716+820G>A | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 43/83 | chrX | 53580011 | ||||||
| chrX:53580114
|
CTTT | C | 2 | a0001c0002t0002g0166a0001c0002t0003g0025 | 2 | HG02647.hp1 NA20129.hp2 |
intron_variant | MODIFIER | c.5716+714_5716+716d others(5): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 43/83 | chrX | 53580114 | ||||||
| chrX:53580157
|
AT | A | 2 | a0001c0001t0001g0063a0001c0001t0001g0064 | 2 | NA19075.hp1 NA20805.hp1 |
intron_variant | MODIFIER | c.5716+673delA | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 43/83 | chrX | 53580157 | ||||||
| chrX:53580332
|
GTAT | G | 1 | a0001c0001t0001g0064 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.5716+496_5716+498d others(5): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 43/83 | chrX | 53580332 | ||||||
| chrX:53580389
|
T | C | 1 | a0001c0001t0011g0008 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.5716+442A>G | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 43/83 | chrX | 53580389 | ||||||
| chrX:53580396
|
T | A | 1 | a0001c0001t0001g0095 | 1 | HG01081.hp1 | intron_variant | MODIFIER | c.5716+435A>T | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 43/83 | chrX | 53580396 | ||||||
| chrX:53580486
|
G | A | 2 | a0001c0001t0003g0050a0001c0001t0003g0051 | 2 | HG02258.hp1 HG02559.hp2 |
intron_variant | MODIFIER | c.5716+345C>T | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 43/83 | chrX | 53580486 | ||||||
| chrX:53580609
|
T | TC | 1 | a0001c0001t0001g0064 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.5716+221_5716+222i others(3): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 43/83 | chrX | 53580609 | ||||||
| chrX:53580696
|
A | G | 4 | a0001c0001t0011g0008a0001c0008t0004g0208a0001c0019t0003g0029others(1): Show | 4 | HG01884.hp1 HG02559.hp1 HG02622.hp1 others(1): Show |
intron_variant | MODIFIER | c.5716+135T>C | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 43/83 | chrX | 53580696 | ||||||
| chrX:53580782
|
T | C | 6 | a0001c0001t0003g0033a0001c0001t0003g0039a0001c0001t0003g0045others(3): Show | 6 | HG01167.hp1 HG01169.hp2 HG02486.hp1 others(3): Show |
intron_variant | MODIFIER | c.5716+49A>G | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 43/83 | chrX | 53580782 | ||||||
| chrX:53580794
|
A | C | 86 | a0001c0001t0001g0063a0001c0001t0001g0064a0001c0001t0001g0069others(83): Show | 87 | HG00099.hp1 HG00438.hp1 HG00544.hp1 others(84): Show |
intron_variant | MODIFIER | c.5716+37T>G | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 43/83 | chrX | 53580794 | ||||||
| chrX:53580826
|
C | T | 2 | a0001c0019t0003g0029a0001c0020t0003g0030 | 2 | HG01884.hp1 HG02559.hp1 |
splice_region_variant&intron_variant | LOW | c.5716+5G>A | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 43/83 | chrX | 53580826 | ||||||
| chrX:53581130
|
T | C | 1 | a0001c0020t0003g0030 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.5521-104A>G | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 42/83 | chrX | 53581130 | ||||||
| chrX:53581469
|
G | C | 1 | a0001c0001t0003g0045 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.5521-443C>G | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 42/83 | chrX | 53581469 | ||||||
| chrX:53581665
|
A | AT | 3 | a0001c0001t0011g0008a0001c0019t0003g0029a0001c0020t0003g0030 | 3 | HG01884.hp1 HG02559.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.5521-640dupA | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 42/83 | chrX | 53581665 | ||||||
| chrX:53581665
|
A | ATT | 1 | a0001c0008t0004g0208 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.5521-641_5521-640d others(4): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 42/83 | chrX | 53581665 | ||||||
| chrX:53581795
|
G | T | 1 | a0001c0002t0003g0025 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.5521-769C>A | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 42/83 | chrX | 53581795 | ||||||
| chrX:53581823
|
C | A | 1 | a0001c0001t0003g0016 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.5521-797G>T | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 42/83 | chrX | 53581823 | ||||||
| chrX:53581947
|
G | A | 1 | a0001c0001t0003g0026 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.5521-921C>T | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 42/83 | chrX | 53581947 | ||||||
| chrX:53582123
|
C | T | 1 | a0001c0001t0003g0054 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.5521-1097G>A | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 42/83 | chrX | 53582123 | ||||||
| chrX:53582483
|
A | C | 1 | a0001c0001t0004g0189 | 1 | NA18984.hp1 | intron_variant | MODIFIER | c.5520+1075T>G | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 42/83 | chrX | 53582483 | ||||||
| chrX:53582990
|
C | T | 1 | a0001c0002t0002g0176 | 1 | HG02698.hp1 | intron_variant | MODIFIER | c.5520+568G>A | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 42/83 | chrX | 53582990 | ||||||
| chrX:53583305
|
T | TA | 1 | a0001c0001t0003g0039 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.5520+252dupT | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 42/83 | chrX | 53583305 | ||||||
| chrX:53583993
|
T | C | 1 | a0001c0002t0012g0020 | 1 | HG01517.hp1 | intron_variant | MODIFIER | c.5162-77A>G | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 41/83 | chrX | 53583993 | ||||||
| chrX:53584402
|
G | A | 1 | a0001c0001t0003g0053 | 1 | HG00735.hp2 | intron_variant | MODIFIER | c.5002-57C>T | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 40/83 | chrX | 53584402 | ||||||
| chrX:53585272
|
A | G | 1 | a0001c0002t0002g0175 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.4825-84T>C | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 39/83 | chrX | 53585272 | ||||||
| chrX:53585333
|
T | C | 1 | a0001c0008t0004g0208 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.4825-145A>G | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 39/83 | chrX | 53585333 | ||||||
| chrX:53585388
|
T | C | 1 | a0001c0001t0001g0098 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.4825-200A>G | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 39/83 | chrX | 53585388 | ||||||
| chrX:53585408
|
T | C | 1 | a0001c0007t0001g0108 | 1 | HG01192.hp1 | intron_variant | MODIFIER | c.4825-220A>G | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 39/83 | chrX | 53585408 | ||||||
| chrX:53586160
|
A | C | 1 | a0001c0001t0001g0091 | 1 | HG02015.hp1 | intron_variant | MODIFIER | c.4824+330T>G | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 39/83 | chrX | 53586160 | ||||||
| chrX:53586589
|
T | A | 1 | a0001c0019t0003g0029 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.4743-18A>T | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 38/83 | chrX | 53586589 | ||||||
| chrX:53586661
|
T | C | 5 | a0001c0002t0002g0123a0001c0002t0002g0129a0001c0002t0002g0168others(2): Show | 5 | HG00597.hp2 HG02071.hp1 NA18942.hp1 others(2): Show |
intron_variant | MODIFIER | c.4743-90A>G | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 38/83 | chrX | 53586661 | ||||||
| chrX:53586752
|
C | T | 1 | a0001c0004t0003g0011 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.4742+30G>A | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 38/83 | chrX | 53586752 | ||||||
| chrX:53588070
|
C | CT | 1 | a0001c0001t0011g0008 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.4614+311dupA | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 37/83 | chrX | 53588070 | ||||||
| chrX:53588240
|
T | A | 1 | a0001c0008t0004g0208 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.4614+142A>T | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 37/83 | chrX | 53588240 | ||||||
| chrX:53588292
|
C | T | 1 | a0001c0001t0004g0202 | 1 | HG00733.hp1 | intron_variant | MODIFIER | c.4614+90G>A | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 37/83 | chrX | 53588292 | ||||||
| chrX:53589133
|
C | CCACTT | 81 | a0001c0001t0002g0149a0001c0001t0002g0172a0001c0001t0003g0038others(78): Show | 81 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(78): Show |
intron_variant | MODIFIER | c.4461+409_4461+413d others(7): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 36/83 | chrX | 53589133 | ||||||
| chrX:53589134
|
C | G | 1 | a0001c0002t0003g0025 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.4461+413G>C | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 36/83 | chrX | 53589134 | ||||||
| chrX:53589253
|
A | T | 1 | a0001c0019t0003g0029 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.4461+294T>A | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 36/83 | chrX | 53589253 | ||||||
| chrX:53589263
|
A | G | 1 | a0001c0008t0004g0208 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.4461+284T>C | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 36/83 | chrX | 53589263 | ||||||
| chrX:53590618
|
G | C | 1 | a0001c0002t0002g0152 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.4096-119C>G | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 34/83 | chrX | 53590618 | ||||||
| chrX:53590817
|
T | C | 1 | a0001c0001t0003g0032 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.4095+183A>G | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 34/83 | chrX | 53590817 | ||||||
| chrX:53590853
|
T | C | 1 | a0001c0004t0003g0011 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.4095+147A>G | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 34/83 | chrX | 53590853 | ||||||
| chrX:53590909
|
A | G | 1 | a0001c0001t0011g0008 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.4095+91T>C | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 34/83 | chrX | 53590909 | ||||||
| chrX:53591252
|
G | C | 3 | a0001c0001t0001g0078a0001c0001t0001g0079a0001c0001t0001g0080 | 3 | NA18944.hp1 NA18948.hp1 NA19091.hp1 |
intron_variant | MODIFIER | c.3973-130C>G | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 33/83 | chrX | 53591252 | ||||||
| chrX:53591276
|
C | T | 1 | a0001c0001t0003g0059 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.3973-154G>A | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 33/83 | chrX | 53591276 | ||||||
| chrX:53591611
|
C | T | 2 | a0001c0002t0003g0022a0001c0002t0003g0024 | 2 | NA18952.hp1 NA19087.hp2 |
intron_variant | MODIFIER | c.3973-489G>A | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 33/83 | chrX | 53591611 | ||||||
| chrX:53591690
|
C | T | 2 | a0001c0001t0003g0045a0001c0001t0003g0059 | 2 | HG02572.hp1 HG03041.hp1 |
intron_variant | MODIFIER | c.3973-568G>A | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 33/83 | chrX | 53591690 | ||||||
| chrX:53592043
|
G | T | 6 | a0001c0002t0002g0147a0001c0002t0002g0159a0001c0002t0002g0160others(3): Show | 6 | HG01071.hp2 HG01261.hp1 HG01496.hp2 others(3): Show |
intron_variant | MODIFIER | c.3972+355C>A | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 33/83 | chrX | 53592043 | ||||||
| chrX:53592353
|
T | C | 1 | a0001c0002t0002g0150 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.3972+45A>G | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 33/83 | chrX | 53592353 | ||||||
| chrX:53593214
|
G | A | 3 | a0001c0002t0005g0139a0001c0002t0005g0153a0001c0002t0013g0014 | 3 | HG00099.hp2 HG00733.hp2 HG01169.hp1 |
intron_variant | MODIFIER | c.3741+150C>T | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 32/83 | chrX | 53593214 | ||||||
| chrX:53593316
|
G | T | 2 | a0001c0008t0004g0208a0001c0020t0003g0030 | 2 | HG01884.hp1 HG02622.hp1 |
intron_variant | MODIFIER | c.3741+48C>A | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 32/83 | chrX | 53593316 | ||||||
| chrX:53593924
|
T | C | 212 | a0001c0001t0001g0063a0001c0001t0001g0064a0001c0001t0001g0069others(209): Show | 213 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(210): Show |
intron_variant | MODIFIER | c.3504-323A>G | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 31/83 | chrX | 53593924 | ||||||
| chrX:53594012
|
GCATGAAC others(12): Show |
G | 3 | a0001c0001t0001g0076a0001c0001t0001g0107a0001c0001t0004g0200 | 3 | NA18989.hp1 NA18994.hp1 NA19088.hp1 |
intron_variant | MODIFIER | c.3504-430_3504-412d others(21): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 31/83 | chrX | 53594012 | ||||||
| chrX:53594044
|
T | G | 1 | a0001c0020t0003g0030 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.3504-443A>C | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 31/83 | chrX | 53594044 | ||||||
| chrX:53594046
|
G | C | 86 | a0001c0001t0001g0063a0001c0001t0001g0064a0001c0001t0001g0069others(83): Show | 87 | HG00099.hp1 HG00438.hp1 HG00544.hp1 others(84): Show |
intron_variant | MODIFIER | c.3504-445C>G | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 31/83 | chrX | 53594046 | ||||||
| chrX:53594066
|
C | T | 6 | a0001c0001t0001g0076a0001c0001t0001g0088a0001c0001t0001g0089others(3): Show | 6 | NA18989.hp1 NA18994.hp1 NA19005.hp1 others(3): Show |
intron_variant | MODIFIER | c.3503+433G>A | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 31/83 | chrX | 53594066 | ||||||
| chrX:53594356
|
G | A | 1 | a0006c0018t0002g0171 | 1 | HG03831.hp1 | intron_variant | MODIFIER | c.3503+143C>T | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 31/83 | chrX | 53594356 | ||||||
| chrX:53594832
|
G | A | 1 | a0001c0001t0003g0053 | 1 | HG00735.hp2 | intron_variant | MODIFIER | c.3381-211C>T | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 30/83 | chrX | 53594832 | ||||||
| chrX:53595118
|
T | A | 86 | a0001c0001t0001g0063a0001c0001t0001g0064a0001c0001t0001g0069others(83): Show | 87 | HG00099.hp1 HG00438.hp1 HG00544.hp1 others(84): Show |
intron_variant | MODIFIER | c.3380+69A>T | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 30/83 | chrX | 53595118 | ||||||
| chrX:53595481
|
A | T | 2 | a0001c0019t0003g0029a0001c0020t0003g0030 | 2 | HG01884.hp1 HG02559.hp1 |
intron_variant | MODIFIER | c.3164-78T>A | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 29/83 | chrX | 53595481 | ||||||
| chrX:53595771
|
T | TA | 2 | a0001c0019t0003g0029a0001c0020t0003g0030 | 2 | HG01884.hp1 HG02559.hp1 |
intron_variant | MODIFIER | c.3164-369dupT | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 29/83 | chrX | 53595771 | ||||||
| chrX:53595843
|
AT | A | 1 | a0001c0020t0003g0030 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.3164-441delA | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 29/83 | chrX | 53595843 | ||||||
| chrX:53595844
|
T | A | 3 | a0001c0001t0011g0008a0001c0008t0004g0208a0001c0019t0003g0029 | 3 | HG02559.hp1 HG02622.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.3164-441A>T | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 29/83 | chrX | 53595844 | ||||||
| chrX:53596392
|
T | C | 9 | a0001c0001t0002g0177a0001c0001t0002g0178a0001c0001t0002g0179others(6): Show | 9 | HG01081.hp2 HG02258.hp1 HG02559.hp2 others(6): Show |
intron_variant | MODIFIER | c.3164-989A>G | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 29/83 | chrX | 53596392 | ||||||
| chrX:53596462
|
G | A | 1 | a0001c0001t0004g0195 | 1 | NA18953.hp1 | intron_variant | MODIFIER | c.3164-1059C>T | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 29/83 | chrX | 53596462 | ||||||
| chrX:53596505
|
T | G | 4 | a0001c0002t0001g0065a0001c0002t0002g0126a0001c0002t0002g0127others(1): Show | 4 | HG00323.hp1 HG00741.hp2 HG01099.hp1 others(1): Show |
intron_variant | MODIFIER | c.3164-1102A>C | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 29/83 | chrX | 53596505 | ||||||
| chrX:53596779
|
T | C | 1 | a0001c0001t0003g0054 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.3164-1376A>G | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 29/83 | chrX | 53596779 | ||||||
| chrX:53597333
|
G | GA | 2 | a0001c0001t0001g0105a0001c0002t0009g0169 | 2 | HG02738.hp1 NA19086.hp1 |
intron_variant | MODIFIER | c.3164-1931dupT | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 29/83 | chrX | 53597333 | ||||||
| chrX:53597333
|
GA | G | 2 | a0001c0019t0003g0029a0001c0020t0003g0030 | 2 | HG01884.hp1 HG02559.hp1 |
intron_variant | MODIFIER | c.3164-1931delT | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 29/83 | chrX | 53597333 | ||||||
| chrX:53597586
|
TG | T | 2 | a0001c0001t0003g0050a0001c0001t0003g0051 | 2 | HG02258.hp1 HG02559.hp2 |
intron_variant | MODIFIER | c.3164-2184delC | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 29/83 | chrX | 53597586 | ||||||
| chrX:53597880
|
T | C | 1 | a0001c0004t0003g0010 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.3163+2238A>G | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 29/83 | chrX | 53597880 | ||||||
| chrX:53597911
|
A | G | 4 | a0001c0001t0003g0017a0001c0001t0003g0031a0001c0001t0003g0044others(1): Show | 4 | HG02622.hp2 HG02895.hp1 NA18522.hp1 others(1): Show |
intron_variant | MODIFIER | c.3163+2207T>C | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 29/83 | chrX | 53597911 | ||||||
| chrX:53598018
|
A | G | 3 | a0001c0001t0003g0017a0001c0019t0003g0029a0001c0020t0003g0030 | 3 | HG01884.hp1 HG02559.hp1 NA18522.hp1 |
intron_variant | MODIFIER | c.3163+2100T>C | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 29/83 | chrX | 53598018 | ||||||
| chrX:53598020
|
CA | C | 1 | a0001c0001t0003g0017 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.3163+2097delT | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 29/83 | chrX | 53598020 | ||||||
| chrX:53598032
|
C | G | 2 | a0001c0001t0003g0017a0001c0002t0002g0123 | 2 | NA18522.hp1 NA18942.hp1 |
intron_variant | MODIFIER | c.3163+2086G>C | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 29/83 | chrX | 53598032 | ||||||
| chrX:53598045
|
T | C | 1 | a0001c0001t0003g0017 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.3163+2073A>G | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 29/83 | chrX | 53598045 | ||||||
| chrX:53598057
|
A | G | 1 | a0001c0001t0003g0017 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.3163+2061T>C | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 29/83 | chrX | 53598057 | ||||||
| chrX:53598062
|
C | T | 1 | a0001c0001t0003g0017 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.3163+2056G>A | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 29/83 | chrX | 53598062 | ||||||
| chrX:53598250
|
A | T | 1 | a0001c0002t0003g0025 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.3163+1868T>A | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 29/83 | chrX | 53598250 | ||||||
| chrX:53598571
|
G | T | 211 | a0001c0001t0001g0063a0001c0001t0001g0064a0001c0001t0001g0069others(208): Show | 212 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(209): Show |
intron_variant | MODIFIER | c.3163+1547C>A | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 29/83 | chrX | 53598571 | ||||||
| chrX:53598722
|
G | T | 3 | a0001c0008t0004g0208a0001c0019t0003g0029a0001c0020t0003g0030 | 3 | HG01884.hp1 HG02559.hp1 HG02622.hp1 |
intron_variant | MODIFIER | c.3163+1396C>A | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 29/83 | chrX | 53598722 | ||||||
| chrX:53598804
|
T | C | 3 | a0001c0001t0003g0036a0001c0001t0003g0046a0001c0001t0015g0062 | 3 | HG01884.hp2 HG02055.hp1 HG03516.hp2 |
intron_variant | MODIFIER | c.3163+1314A>G | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 29/83 | chrX | 53598804 | ||||||
| chrX:53599051
|
C | A | 2 | a0001c0019t0003g0029a0001c0020t0003g0030 | 2 | HG01884.hp1 HG02559.hp1 |
intron_variant | MODIFIER | c.3163+1067G>T | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 29/83 | chrX | 53599051 | ||||||
| chrX:53599450
|
CA | C | 1 | a0001c0002t0003g0009 | 1 | NA19055.hp1 | intron_variant | MODIFIER | c.3163+667delT | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 29/83 | chrX | 53599450 | ||||||
| chrX:53599959
|
A | G | 1 | a0001c0009t0001g0077 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.3163+159T>C | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 29/83 | chrX | 53599959 | ||||||
| chrX:53600329
|
G | T | 1 | a0001c0006t0001g0067 | 1 | NA19060.hp1 | intron_variant | MODIFIER | c.2972-20C>A | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 28/83 | chrX | 53600329 | ||||||
| chrX:53600788
|
A | G | 1 | a0001c0001t0001g0118 | 1 | HG00735.hp1 | intron_variant | MODIFIER | c.2972-479T>C | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 28/83 | chrX | 53600788 | ||||||
| chrX:53600828
|
G | T | 2 | a0001c0019t0003g0029a0001c0020t0003g0030 | 2 | HG01884.hp1 HG02559.hp1 |
intron_variant | MODIFIER | c.2972-519C>A | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 28/83 | chrX | 53600828 | ||||||
| chrX:53600943
|
T | C | 2 | a0001c0001t0006g0005a0001c0001t0006g0006 | 2 | HG01069.hp1 HG01071.hp1 |
intron_variant | MODIFIER | c.2972-634A>G | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 28/83 | chrX | 53600943 | ||||||
| chrX:53601185
|
C | CT | 1 | a0001c0020t0003g0030 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.2972-877dupA | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 28/83 | chrX | 53601185 | ||||||
| chrX:53601665
|
A | AT | 83 | a0001c0001t0001g0081a0001c0001t0002g0149a0001c0001t0003g0039others(80): Show | 83 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(80): Show |
intron_variant | MODIFIER | c.2971+898dupA | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 28/83 | chrX | 53601665 | ||||||
| chrX:53601665
|
AT | A | 3 | a0001c0001t0001g0118a0001c0001t0003g0036a0001c0020t0003g0030 | 3 | HG00735.hp1 HG01884.hp1 HG01884.hp2 |
intron_variant | MODIFIER | c.2971+898delA | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 28/83 | chrX | 53601665 | ||||||
| chrX:53602063
|
T | A | 1 | a0001c0001t0003g0059 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.2971+501A>T | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 28/83 | chrX | 53602063 | ||||||
| chrX:53602244
|
T | C | 80 | a0001c0001t0002g0149a0001c0002t0001g0065a0001c0002t0002g0123others(77): Show | 80 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(77): Show |
intron_variant | MODIFIER | c.2971+320A>G | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 28/83 | chrX | 53602244 | ||||||
| chrX:53602328
|
C | G | 1 | a0001c0001t0001g0072 | 1 | NA20752.hp1 | intron_variant | MODIFIER | c.2971+236G>C | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 28/83 | chrX | 53602328 | ||||||
| chrX:53602334
|
G | GT | 205 | a0001c0001t0001g0063a0001c0001t0001g0064a0001c0001t0001g0069others(202): Show | 206 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(203): Show |
intron_variant | MODIFIER | c.2971+229dupA | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 28/83 | chrX | 53602334 | ||||||
| chrX:53602334
|
G | GTT | 7 | a0001c0001t0001g0075a0001c0001t0001g0105a0001c0001t0004g0186others(4): Show | 7 | HG01192.hp1 HG02080.hp1 HG02148.hp2 others(4): Show |
intron_variant | MODIFIER | c.2971+228_2971+229d others(4): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 28/83 | chrX | 53602334 | ||||||
| chrX:53602441
|
A | C | 1 | a0001c0001t0004g0205 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.2971+123T>G | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 28/83 | chrX | 53602441 | ||||||
| chrX:53602688
|
A | AAT | 1 | a0001c0001t0011g0008 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.2877-32_2877-31dup others(2): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 27/83 | chrX | 53602688 | ||||||
| chrX:53602721
|
T | C | 1 | a0001c0001t0004g0193 | 1 | NA18995.hp1 | intron_variant | MODIFIER | c.2877-63A>G | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 27/83 | chrX | 53602721 | ||||||
| chrX:53602843
|
CT | C | 2 | a0001c0002t0007g0211a0001c0019t0003g0029 | 2 | HG02559.hp1 NA19082.hp1 |
intron_variant | MODIFIER | c.2877-186delA | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 27/83 | chrX | 53602843 | ||||||
| chrX:53602850
|
T | C | 1 | a0001c0001t0001g0099 | 1 | NA18946.hp1 | intron_variant | MODIFIER | c.2877-192A>G | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 27/83 | chrX | 53602850 | ||||||
| chrX:53602854
|
C | CT | 4 | a0001c0004t0003g0010a0001c0004t0003g0011a0001c0004t0003g0012others(1): Show | 4 | HG02145.hp1 HG02809.hp1 HG03041.hp2 others(1): Show |
intron_variant | MODIFIER | c.2877-197dupA | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 27/83 | chrX | 53602854 | ||||||
| chrX:53602854
|
CT | C | 1 | a0001c0002t0003g0025 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.2877-197delA | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 27/83 | chrX | 53602854 | ||||||
| chrX:53602888
|
T | G | 1 | a0001c0002t0002g0167 | 1 | HG02004.hp2 | intron_variant | MODIFIER | c.2877-230A>C | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 27/83 | chrX | 53602888 | ||||||
| chrX:53602890
|
G | A | 4 | a0001c0002t0001g0065a0001c0002t0002g0126a0001c0002t0002g0127others(1): Show | 4 | HG00323.hp1 HG00741.hp2 HG01099.hp1 others(1): Show |
intron_variant | MODIFIER | c.2877-232C>T | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 27/83 | chrX | 53602890 | ||||||
| chrX:53602997
|
G | A | 1 | a0001c0001t0003g0056 | 1 | HG01934.hp1 | intron_variant | MODIFIER | c.2877-339C>T | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 27/83 | chrX | 53602997 | ||||||
| chrX:53603008
|
C | T | 1 | a0001c0001t0003g0057 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.2877-350G>A | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 27/83 | chrX | 53603008 | ||||||
| chrX:53603150
|
C | T | 2 | a0001c0019t0003g0029a0001c0020t0003g0030 | 2 | HG01884.hp1 HG02559.hp1 |
intron_variant | MODIFIER | c.2876+218G>A | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 27/83 | chrX | 53603150 | ||||||
| chrX:53603555
|
T | TA | 2 | a0001c0001t0001g0113a0001c0001t0001g0114 | 2 | HG00741.hp1 HG01433.hp1 |
intron_variant | MODIFIER | c.2743-55dupT | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 26/83 | chrX | 53603555 | ||||||
| chrX:53603864
|
G | A | 3 | a0001c0008t0004g0208a0001c0019t0003g0029a0001c0020t0003g0030 | 3 | HG01884.hp1 HG02559.hp1 HG02622.hp1 |
intron_variant | MODIFIER | c.2743-363C>T | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 26/83 | chrX | 53603864 | ||||||
| chrX:53604099
|
A | T | 3 | a0001c0008t0004g0208a0001c0019t0003g0029a0001c0020t0003g0030 | 3 | HG01884.hp1 HG02559.hp1 HG02622.hp1 |
intron_variant | MODIFIER | c.2742+490T>A | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 26/83 | chrX | 53604099 | ||||||
| chrX:53604410
|
A | G | 1 | a0001c0003t0001g0068 | 1 | NA18940.hp1 | intron_variant | MODIFIER | c.2742+179T>C | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 26/83 | chrX | 53604410 | ||||||
| chrX:53604998
|
A | C | 2 | a0001c0002t0002g0128a0001c0002t0002g0156 | 2 | HG00280.hp1 HG00642.hp1 |
intron_variant | MODIFIER | c.2497-164T>G | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 25/83 | chrX | 53604998 | ||||||
| chrX:53605439
|
CCT | C | 1 | a0001c0008t0004g0208 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.2497-607_2497-606d others(4): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 25/83 | chrX | 53605439 | ||||||
| chrX:53605780
|
T | A | 1 | a0001c0002t0002g0160 | 1 | HG01071.hp2 | intron_variant | MODIFIER | c.2497-946A>T | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 25/83 | chrX | 53605780 | ||||||
| chrX:53605930
|
T | C | 1 | a0001c0001t0001g0098 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.2497-1096A>G | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 25/83 | chrX | 53605930 | ||||||
| chrX:53606098
|
A | G | 1 | a0001c0008t0004g0208 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.2497-1264T>C | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 25/83 | chrX | 53606098 | ||||||
| chrX:53606376
|
T | C | 3 | a0001c0001t0003g0031a0001c0001t0003g0032a0001c0001t0003g0044 | 3 | HG02622.hp2 HG02895.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.2496+1147A>G | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 25/83 | chrX | 53606376 | ||||||
| chrX:53606532
|
C | T | 78 | a0001c0002t0001g0065a0001c0002t0002g0123a0001c0002t0002g0126others(75): Show | 78 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(75): Show |
intron_variant | MODIFIER | c.2496+991G>A | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 25/83 | chrX | 53606532 | ||||||
| chrX:53606556
|
C | T | 2 | a0001c0001t0004g0001a0001c0001t0004g0193 | 3 | NA18995.hp1 NA19004.hp1 NA19070.hp1 |
intron_variant | MODIFIER | c.2496+967G>A | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 25/83 | chrX | 53606556 | ||||||
| chrX:53607050
|
T | G | 1 | a0001c0001t0003g0026 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.2496+473A>C | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 25/83 | chrX | 53607050 | ||||||
| chrX:53607066
|
C | T | 1 | a0001c0001t0006g0007 | 1 | HG03688.hp1 | intron_variant | MODIFIER | c.2496+457G>A | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 25/83 | chrX | 53607066 | ||||||
| chrX:53607373
|
T | G | 7 | a0001c0001t0003g0036a0001c0001t0003g0040a0001c0001t0003g0041others(4): Show | 7 | HG01255.hp1 HG01884.hp2 HG02055.hp1 others(4): Show |
intron_variant | MODIFIER | c.2496+150A>C | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 25/83 | chrX | 53607373 | ||||||
| chrX:53607376
|
T | C | 1 | a0001c0002t0003g0025 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.2496+147A>G | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 25/83 | chrX | 53607376 | ||||||
| chrX:53607382
|
C | A | 1 | a0001c0008t0004g0208 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.2496+141G>T | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 25/83 | chrX | 53607382 | ||||||
| chrX:53607437
|
G | C | 1 | a0001c0002t0003g0025 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.2496+86C>G | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 25/83 | chrX | 53607437 | ||||||
| chrX:53607721
|
A | T | 1 | a0001c0008t0004g0208 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.2320-22T>A | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 24/83 | chrX | 53607721 | ||||||
| chrX:53608151
|
A | AT | 1 | a0001c0008t0004g0208 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.2320-453dupA | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 24/83 | chrX | 53608151 | ||||||
| chrX:53608379
|
CAT | C | 78 | a0001c0002t0001g0065a0001c0002t0002g0123a0001c0002t0002g0126others(75): Show | 78 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(75): Show |
intron_variant | MODIFIER | c.2319+471_2319+472d others(4): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 24/83 | chrX | 53608379 | ||||||
| chrX:53608394
|
A | G | 1 | a0001c0001t0001g0085 | 1 | HG03239.hp2 | intron_variant | MODIFIER | c.2319+458T>C | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 24/83 | chrX | 53608394 | ||||||
| chrX:53608676
|
T | A | 1 | a0001c0002t0003g0019 | 1 | NA18946.hp2 | intron_variant | MODIFIER | c.2319+176A>T | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 24/83 | chrX | 53608676 | ||||||
| chrX:53608926
|
G | T | 4 | a0001c0004t0003g0010a0001c0004t0003g0011a0001c0004t0003g0012others(1): Show | 4 | HG02145.hp1 HG02809.hp1 HG03041.hp2 others(1): Show |
intron_variant | MODIFIER | c.2262-17C>A | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 23/83 | chrX | 53608926 | ||||||
| chrX:53608977
|
A | C | 1 | a0001c0002t0003g0025 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.2262-68T>G | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 23/83 | chrX | 53608977 | ||||||
| chrX:53609201
|
C | T | 1 | a0001c0008t0004g0208 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.2262-292G>A | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 23/83 | chrX | 53609201 | ||||||
| chrX:53609530
|
C | CA | 1 | a0001c0002t0003g0009 | 1 | NA19055.hp1 | intron_variant | MODIFIER | c.2262-622dupT | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 23/83 | chrX | 53609530 | ||||||
| chrX:53609779
|
G | C | 38 | a0001c0001t0002g0177a0001c0001t0002g0178a0001c0001t0002g0179others(35): Show | 38 | HG00323.hp2 HG00735.hp2 HG00738.hp1 others(35): Show |
intron_variant | MODIFIER | c.2262-870C>G | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 23/83 | chrX | 53609779 | ||||||
| chrX:53609836
|
T | C | 1 | a0001c0001t0001g0111 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.2262-927A>G | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 23/83 | chrX | 53609836 | ||||||
| chrX:53610461
|
C | T | 1 | a0001c0002t0002g0147 | 1 | HG01943.hp1 | intron_variant | MODIFIER | c.2262-1552G>A | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 23/83 | chrX | 53610461 | ||||||
| chrX:53610733
|
C | A | 2 | a0001c0019t0003g0029a0001c0020t0003g0030 | 2 | HG01884.hp1 HG02559.hp1 |
intron_variant | MODIFIER | c.2262-1824G>T | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 23/83 | chrX | 53610733 | ||||||
| chrX:53611083
|
G | A | 1 | a0001c0002t0002g0168 | 1 | NA18959.hp1 | intron_variant | MODIFIER | c.2262-2174C>T | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 23/83 | chrX | 53611083 | ||||||
| chrX:53611188
|
T | TA | 9 | a0001c0001t0003g0031a0001c0001t0003g0035a0001c0001t0014g0034others(6): Show | 9 | HG01074.hp1 HG02083.hp1 HG02895.hp1 others(6): Show |
intron_variant | MODIFIER | c.2262-2280dupT | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 23/83 | chrX | 53611188 | ||||||
| chrX:53611188
|
T | TAA | 4 | a0001c0002t0002g0131a0001c0002t0002g0150a0001c0002t0003g0025others(1): Show | 4 | HG02559.hp1 HG02647.hp1 HG04115.hp1 others(1): Show |
intron_variant | MODIFIER | c.2262-2281_2262-228 others(6): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 23/83 | chrX | 53611188 | ||||||
| chrX:53611188
|
T | TAAA | 1 | a0001c0008t0004g0208 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.2262-2282_2262-228 others(7): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 23/83 | chrX | 53611188 | ||||||
| chrX:53611188
|
T | TAAAA | 1 | a0001c0020t0003g0030 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.2262-2283_2262-228 others(8): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 23/83 | chrX | 53611188 | ||||||
| chrX:53611188
|
TA | T | 4 | a0001c0001t0001g0100a0001c0001t0002g0177a0001c0002t0001g0065others(1): Show | 4 | HG00099.hp1 HG01081.hp2 HG01256.hp1 others(1): Show |
intron_variant | MODIFIER | c.2262-2280delT | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 23/83 | chrX | 53611188 | ||||||
| chrX:53611206
|
A | G | 7 | a0001c0001t0001g0094a0001c0001t0001g0096a0001c0001t0001g0116others(4): Show | 7 | HG01069.hp1 HG01071.hp1 HG01258.hp1 others(4): Show |
intron_variant | MODIFIER | c.2262-2297T>C | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 23/83 | chrX | 53611206 | ||||||
| chrX:53611211
|
A | G | 2 | a0001c0019t0003g0029a0001c0020t0003g0030 | 2 | HG01884.hp1 HG02559.hp1 |
intron_variant | MODIFIER | c.2262-2302T>C | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 23/83 | chrX | 53611211 | ||||||
| chrX:53611219
|
G | C | 3 | a0001c0008t0004g0208a0001c0019t0003g0029a0001c0020t0003g0030 | 3 | HG01884.hp1 HG02559.hp1 HG02622.hp1 |
intron_variant | MODIFIER | c.2262-2310C>G | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 23/83 | chrX | 53611219 | ||||||
| chrX:53611751
|
A | G | 1 | a0001c0001t0011g0008 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.2261+2783T>C | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 23/83 | chrX | 53611751 | ||||||
| chrX:53611857
|
C | CA | 5 | a0001c0001t0002g0179a0001c0001t0003g0035a0001c0001t0014g0034others(2): Show | 5 | HG00544.hp2 HG01884.hp1 HG02083.hp1 others(2): Show |
intron_variant | MODIFIER | c.2261+2676dupT | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 23/83 | chrX | 53611857 | ||||||
| chrX:53611857
|
C | CAA | 1 | a0001c0019t0003g0029 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.2261+2675_2261+267 others(6): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 23/83 | chrX | 53611857 | ||||||
| chrX:53611857
|
CA | C | 1 | a0001c0008t0004g0208 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.2261+2676delT | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 23/83 | chrX | 53611857 | ||||||
| chrX:53611867
|
A | T | 1 | a0001c0002t0002g0131 | 1 | NA19063.hp1 | intron_variant | MODIFIER | c.2261+2667T>A | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 23/83 | chrX | 53611867 | ||||||
| chrX:53611871
|
T | A | 1 | a0001c0002t0002g0166 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.2261+2663A>T | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 23/83 | chrX | 53611871 | ||||||
| chrX:53611976
|
G | A | 4 | a0001c0004t0003g0010a0001c0004t0003g0011a0001c0004t0003g0012others(1): Show | 4 | HG02145.hp1 HG02809.hp1 HG03041.hp2 others(1): Show |
intron_variant | MODIFIER | c.2261+2558C>T | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 23/83 | chrX | 53611976 | ||||||
| chrX:53612187
|
C | T | 1 | a0001c0001t0001g0114 | 1 | HG00741.hp1 | intron_variant | MODIFIER | c.2261+2347G>A | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 23/83 | chrX | 53612187 | ||||||
| chrX:53612206
|
C | A | 1 | a0001c0008t0004g0208 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.2261+2328G>T | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 23/83 | chrX | 53612206 | ||||||
| chrX:53612333
|
A | T | 6 | a0001c0002t0002g0147a0001c0002t0002g0159a0001c0002t0002g0160others(3): Show | 6 | HG01071.hp2 HG01261.hp1 HG01496.hp2 others(3): Show |
intron_variant | MODIFIER | c.2261+2201T>A | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 23/83 | chrX | 53612333 | ||||||
| chrX:53612344
|
T | G | 1 | a0001c0007t0001g0108 | 1 | HG01192.hp1 | intron_variant | MODIFIER | c.2261+2190A>C | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 23/83 | chrX | 53612344 | ||||||
| chrX:53612694
|
A | C | 4 | a0001c0001t0003g0053a0001c0001t0003g0054a0001c0001t0003g0055others(1): Show | 4 | HG00735.hp2 HG01934.hp1 HG02717.hp1 others(1): Show |
intron_variant | MODIFIER | c.2261+1840T>G | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 23/83 | chrX | 53612694 | ||||||
| chrX:53612869
|
G | C | 1 | a0001c0005t0008g0027 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.2261+1665C>G | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 23/83 | chrX | 53612869 | ||||||
| chrX:53613483
|
T | C | 1 | a0001c0001t0011g0008 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.2261+1051A>G | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 23/83 | chrX | 53613483 | ||||||
| chrX:53613492
|
G | A | 1 | a0001c0002t0002g0166 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.2261+1042C>T | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 23/83 | chrX | 53613492 | ||||||
| chrX:53613965
|
T | A | 2 | a0001c0019t0003g0029a0001c0020t0003g0030 | 2 | HG01884.hp1 HG02559.hp1 |
intron_variant | MODIFIER | c.2261+569A>T | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 23/83 | chrX | 53613965 | ||||||
| chrX:53613986
|
CG | C | 1 | a0001c0002t0003g0009 | 1 | NA19055.hp1 | intron_variant | MODIFIER | c.2261+547delC | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 23/83 | chrX | 53613986 | ||||||
| chrX:53614052
|
G | A | 78 | a0001c0002t0001g0065a0001c0002t0002g0123a0001c0002t0002g0126others(75): Show | 78 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(75): Show |
intron_variant | MODIFIER | c.2261+482C>T | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 23/83 | chrX | 53614052 | ||||||
| chrX:53614342
|
A | G | 1 | a0001c0001t0011g0008 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.2261+192T>C | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 23/83 | chrX | 53614342 | ||||||
| chrX:53614464
|
A | G | 1 | a0001c0001t0001g0075 | 1 | NA19000.hp1 | intron_variant | MODIFIER | c.2261+70T>C | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 23/83 | chrX | 53614464 | ||||||
| chrX:53614491
|
C | A | 1 | a0001c0001t0001g0111 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.2261+43G>T | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 23/83 | chrX | 53614491 | ||||||
| chrX:53614930
|
C | T | 2 | a0001c0019t0003g0029a0001c0020t0003g0030 | 2 | HG01884.hp1 HG02559.hp1 |
intron_variant | MODIFIER | c.2050-185G>A | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 22/83 | chrX | 53614930 | ||||||
| chrX:53614939
|
T | TA | 1 | a0001c0001t0001g0063 | 1 | NA20805.hp1 | intron_variant | MODIFIER | c.2050-195dupT | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 22/83 | chrX | 53614939 | ||||||
| chrX:53615095
|
C | T | 3 | a0001c0008t0004g0208a0001c0019t0003g0029a0001c0020t0003g0030 | 3 | HG01884.hp1 HG02559.hp1 HG02622.hp1 |
intron_variant | MODIFIER | c.2050-350G>A | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 22/83 | chrX | 53615095 | ||||||
| chrX:53615238
|
T | G | 2 | a0001c0001t0001g0113a0001c0001t0001g0114 | 2 | HG00741.hp1 HG01433.hp1 |
intron_variant | MODIFIER | c.2050-493A>C | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 22/83 | chrX | 53615238 | ||||||
| chrX:53615253
|
C | CT | 5 | a0001c0001t0001g0086a0001c0001t0001g0089a0001c0001t0001g0103others(2): Show | 5 | HG03831.hp2 NA18985.hp1 NA19067.hp1 others(2): Show |
intron_variant | MODIFIER | c.2049+490dupA | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 22/83 | chrX | 53615253 | ||||||
| chrX:53615253
|
CT | C | 1 | a0001c0003t0002g0151 | 1 | HG02129.hp1 | intron_variant | MODIFIER | c.2049+490delA | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 22/83 | chrX | 53615253 | ||||||
| chrX:53615437
|
A | G | 2 | a0001c0001t0001g0069a0001c0001t0001g0117 | 2 | HG00544.hp1 NA19056.hp1 |
intron_variant | MODIFIER | c.2049+307T>C | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 22/83 | chrX | 53615437 | ||||||
| chrX:53615481
|
GC | G | 1 | a0001c0003t0002g0132 | 1 | NA18983.hp1 | intron_variant | MODIFIER | c.2049+262delG | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 22/83 | chrX | 53615481 | ||||||
| chrX:53615483
|
C | T | 1 | a0001c0003t0002g0132 | 1 | NA18983.hp1 | intron_variant | MODIFIER | c.2049+261G>A | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 22/83 | chrX | 53615483 | ||||||
| chrX:53615665
|
C | G | 1 | a0001c0008t0004g0208 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.2049+79G>C | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 22/83 | chrX | 53615665 | ||||||
| chrX:53616080
|
A | AT | 4 | a0001c0002t0001g0065a0001c0002t0002g0126a0001c0002t0002g0127others(1): Show | 4 | HG00323.hp1 HG00741.hp2 HG01099.hp1 others(1): Show |
intron_variant | MODIFIER | c.1958-246dupA | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 21/83 | chrX | 53616080 | ||||||
| chrX:53616084
|
T | C | 2 | a0001c0001t0001g0110a0001c0001t0001g0118 | 2 | HG00735.hp1 HG03710.hp1 |
intron_variant | MODIFIER | c.1958-249A>G | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 21/83 | chrX | 53616084 | ||||||
| chrX:53616227
|
A | AT | 2 | a0001c0002t0003g0021a0001c0008t0004g0208 | 2 | HG00621.hp1 HG02622.hp1 |
intron_variant | MODIFIER | c.1958-393dupA | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 21/83 | chrX | 53616227 | ||||||
| chrX:53616227
|
AT | A | 2 | a0001c0002t0002g0134a0001c0014t0002g0158 | 2 | HG02074.hp1 HG03239.hp1 |
intron_variant | MODIFIER | c.1958-393delA | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 21/83 | chrX | 53616227 | ||||||
| chrX:53616562
|
A | G | 1 | a0001c0003t0002g0151 | 1 | HG02129.hp1 | intron_variant | MODIFIER | c.1957+408T>C | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 21/83 | chrX | 53616562 | ||||||
| chrX:53616606
|
A | T | 3 | a0001c0008t0004g0208a0001c0019t0003g0029a0001c0020t0003g0030 | 3 | HG01884.hp1 HG02559.hp1 HG02622.hp1 |
intron_variant | MODIFIER | c.1957+364T>A | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 21/83 | chrX | 53616606 | ||||||
| chrX:53616710
|
A | G | 80 | a0001c0001t0002g0149a0001c0002t0001g0065a0001c0002t0002g0123others(77): Show | 80 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(77): Show |
intron_variant | MODIFIER | c.1957+260T>C | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 21/83 | chrX | 53616710 | ||||||
| chrX:53616856
|
T | A | 2 | a0001c0002t0009g0124a0001c0002t0009g0169 | 2 | HG02738.hp1 NA18949.hp1 |
intron_variant | MODIFIER | c.1957+114A>T | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 21/83 | chrX | 53616856 | ||||||
| chrX:53616925
|
A | C | 4 | a0001c0001t0001g0088a0001c0001t0001g0089a0001c0001t0001g0093others(1): Show | 4 | NA18990.hp1 NA19005.hp1 NA19072.hp1 others(1): Show |
intron_variant | MODIFIER | c.1957+45T>G | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 21/83 | chrX | 53616925 | ||||||
| chrX:53616931
|
A | C | 3 | a0001c0003t0002g0154a0001c0003t0002g0163a0001c0003t0002g0164 | 3 | NA18747.hp1 NA19009.hp1 NA19066.hp1 |
intron_variant | MODIFIER | c.1957+39T>G | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 21/83 | chrX | 53616931 | ||||||
| chrX:53617286
|
G | A | 1 | a0001c0019t0003g0029 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.1779+54C>T | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 20/83 | chrX | 53617286 | ||||||
| chrX:53617519
|
T | TA | 2 | a0001c0019t0003g0029a0001c0020t0003g0030 | 2 | HG01884.hp1 HG02559.hp1 |
intron_variant | MODIFIER | c.1673-74dupT | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 19/83 | chrX | 53617519 | ||||||
| chrX:53617863
|
C | T | 4 | a0001c0004t0003g0010a0001c0004t0003g0011a0001c0004t0003g0012others(1): Show | 4 | HG02145.hp1 HG02809.hp1 HG03041.hp2 others(1): Show |
intron_variant | MODIFIER | c.1673-417G>A | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 19/83 | chrX | 53617863 | ||||||
| chrX:53618005
|
A | G | 4 | a0001c0001t0011g0008a0001c0008t0004g0208a0001c0019t0003g0029others(1): Show | 4 | HG01884.hp1 HG02559.hp1 HG02622.hp1 others(1): Show |
intron_variant | MODIFIER | c.1673-559T>C | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 19/83 | chrX | 53618005 | ||||||
| chrX:53618204
|
G | A | 4 | a0001c0001t0011g0008a0001c0008t0004g0208a0001c0019t0003g0029others(1): Show | 4 | HG01884.hp1 HG02559.hp1 HG02622.hp1 others(1): Show |
intron_variant | MODIFIER | c.1673-758C>T | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 19/83 | chrX | 53618204 | ||||||
| chrX:53618253
|
T | C | 4 | a0001c0001t0001g0088a0001c0001t0001g0089a0001c0001t0001g0093others(1): Show | 4 | NA18990.hp1 NA19005.hp1 NA19072.hp1 others(1): Show |
intron_variant | MODIFIER | c.1673-807A>G | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 19/83 | chrX | 53618253 | ||||||
| chrX:53618263
|
A | G | 3 | a0001c0003t0002g0143a0001c0003t0002g0144a0001c0003t0002g0146 | 3 | NA18957.hp1 NA18960.hp1 NA19007.hp1 |
intron_variant | MODIFIER | c.1673-817T>C | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 19/83 | chrX | 53618263 | ||||||
| chrX:53618345
|
A | T | 4 | a0001c0001t0011g0008a0001c0008t0004g0208a0001c0019t0003g0029others(1): Show | 4 | HG01884.hp1 HG02559.hp1 HG02622.hp1 others(1): Show |
intron_variant | MODIFIER | c.1673-899T>A | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 19/83 | chrX | 53618345 | ||||||
| chrX:53618510
|
T | A | 1 | a0001c0003t0002g0140 | 1 | NA18977.hp1 | intron_variant | MODIFIER | c.1673-1064A>T | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 19/83 | chrX | 53618510 | ||||||
| chrX:53618554
|
G | A | 4 | a0001c0001t0011g0008a0001c0008t0004g0208a0001c0019t0003g0029others(1): Show | 4 | HG01884.hp1 HG02559.hp1 HG02622.hp1 others(1): Show |
intron_variant | MODIFIER | c.1673-1108C>T | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 19/83 | chrX | 53618554 | ||||||
| chrX:53618565
|
C | CT | 10 | a0001c0001t0001g0063a0001c0001t0001g0082a0001c0001t0001g0094others(7): Show | 10 | HG01515.hp1 HG01517.hp2 HG01981.hp2 others(7): Show |
intron_variant | MODIFIER | c.1673-1120dupA | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 19/83 | chrX | 53618565 | ||||||
| chrX:53618565
|
C | CTT | 2 | a0001c0001t0011g0008a0001c0002t0003g0015 | 2 | HG01261.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.1673-1121_1673-112 others(6): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 19/83 | chrX | 53618565 | ||||||
| chrX:53618565
|
CT | C | 10 | a0001c0001t0004g0187a0001c0001t0004g0188a0001c0001t0004g0189others(7): Show | 10 | HG01517.hp1 HG01884.hp1 HG02148.hp1 others(7): Show |
intron_variant | MODIFIER | c.1673-1120delA | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 19/83 | chrX | 53618565 | ||||||
| chrX:53618583
|
T | C | 1 | a0001c0002t0002g0168 | 1 | NA18959.hp1 | intron_variant | MODIFIER | c.1673-1137A>G | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 19/83 | chrX | 53618583 | ||||||
| chrX:53618588
|
G | A | 4 | a0001c0001t0011g0008a0001c0008t0004g0208a0001c0019t0003g0029others(1): Show | 4 | HG01884.hp1 HG02559.hp1 HG02622.hp1 others(1): Show |
intron_variant | MODIFIER | c.1673-1142C>T | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 19/83 | chrX | 53618588 | ||||||
| chrX:53618690
|
A | G | 4 | a0001c0001t0011g0008a0001c0008t0004g0208a0001c0019t0003g0029others(1): Show | 4 | HG01884.hp1 HG02559.hp1 HG02622.hp1 others(1): Show |
intron_variant | MODIFIER | c.1673-1244T>C | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 19/83 | chrX | 53618690 | ||||||
| chrX:53618838
|
T | C | 4 | a0001c0001t0011g0008a0001c0008t0004g0208a0001c0019t0003g0029others(1): Show | 4 | HG01884.hp1 HG02559.hp1 HG02622.hp1 others(1): Show |
intron_variant | MODIFIER | c.1673-1392A>G | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 19/83 | chrX | 53618838 | ||||||
| chrX:53618873
|
A | G | 38 | a0001c0001t0002g0177a0001c0001t0002g0178a0001c0001t0002g0179others(35): Show | 38 | HG00323.hp2 HG00735.hp2 HG00738.hp1 others(35): Show |
intron_variant | MODIFIER | c.1673-1427T>C | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 19/83 | chrX | 53618873 | ||||||
| chrX:53618880
|
G | A | 4 | a0001c0001t0011g0008a0001c0008t0004g0208a0001c0019t0003g0029others(1): Show | 4 | HG01884.hp1 HG02559.hp1 HG02622.hp1 others(1): Show |
intron_variant | MODIFIER | c.1673-1434C>T | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 19/83 | chrX | 53618880 | ||||||
| chrX:53618880
|
G | GA | 1 | a0001c0001t0006g0003 | 1 | HG02735.hp1 | intron_variant | MODIFIER | c.1673-1435dupT | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 19/83 | chrX | 53618880 | ||||||
| chrX:53618881
|
A | G | 5 | a0001c0001t0001g0078a0001c0001t0001g0079a0001c0001t0001g0080others(2): Show | 5 | NA18944.hp1 NA18948.hp1 NA18949.hp2 others(2): Show |
intron_variant | MODIFIER | c.1673-1435T>C | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 19/83 | chrX | 53618881 | ||||||
| chrX:53618883
|
A | AC | 4 | a0001c0001t0011g0008a0001c0008t0004g0208a0001c0019t0003g0029others(1): Show | 4 | HG01884.hp1 HG02559.hp1 HG02622.hp1 others(1): Show |
intron_variant | MODIFIER | c.1673-1438_1673-143 others(5): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 19/83 | chrX | 53618883 | ||||||
| chrX:53619184
|
C | T | 1 | a0001c0002t0007g0210 | 1 | HG02071.hp1 | intron_variant | MODIFIER | c.1673-1738G>A | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 19/83 | chrX | 53619184 | ||||||
| chrX:53619290
|
T | C | 1 | a0001c0001t0001g0099 | 1 | NA18946.hp1 | intron_variant | MODIFIER | c.1673-1844A>G | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 19/83 | chrX | 53619290 | ||||||
| chrX:53619489
|
G | A | 1 | a0001c0008t0004g0208 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.1673-2043C>T | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 19/83 | chrX | 53619489 | ||||||
| chrX:53619588
|
A | G | 3 | a0001c0008t0004g0208a0001c0019t0003g0029a0001c0020t0003g0030 | 3 | HG01884.hp1 HG02559.hp1 HG02622.hp1 |
intron_variant | MODIFIER | c.1673-2142T>C | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 19/83 | chrX | 53619588 | ||||||
| chrX:53619590
|
G | GA | 1 | a0001c0002t0005g0180 | 1 | HG01981.hp1 | intron_variant | MODIFIER | c.1673-2145dupT | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 19/83 | chrX | 53619590 | ||||||
| chrX:53619590
|
GA | G | 98 | a0001c0001t0001g0063a0001c0001t0001g0064a0001c0001t0001g0069others(95): Show | 99 | HG00099.hp1 HG00438.hp1 HG00544.hp1 others(96): Show |
intron_variant | MODIFIER | c.1673-2145delT | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 19/83 | chrX | 53619590 | ||||||
| chrX:53619590
|
GAA | G | 29 | a0001c0001t0001g0092a0001c0001t0001g0103a0001c0001t0002g0177others(26): Show | 29 | HG00323.hp2 HG00735.hp2 HG01081.hp2 others(26): Show |
intron_variant | MODIFIER | c.1673-2146_1673-214 others(6): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 19/83 | chrX | 53619590 | ||||||
| chrX:53619590
|
GAAA | G | 7 | a0001c0001t0003g0031a0001c0001t0003g0032a0001c0001t0003g0041others(4): Show | 7 | HG01255.hp1 HG01884.hp1 HG02559.hp1 others(4): Show |
intron_variant | MODIFIER | c.1673-2147_1673-214 others(7): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 19/83 | chrX | 53619590 | ||||||
| chrX:53619590
|
GAAAAAAA | G | 1 | a0001c0002t0005g0121 | 1 | HG02004.hp1 | intron_variant | MODIFIER | c.1673-2151_1673-214 others(11): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 19/83 | chrX | 53619590 | ||||||
| chrX:53619828
|
G | A | 82 | a0001c0001t0001g0063a0001c0001t0001g0064a0001c0001t0001g0069others(79): Show | 83 | HG00099.hp1 HG00438.hp1 HG00544.hp1 others(80): Show |
intron_variant | MODIFIER | c.1673-2382C>T | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 19/83 | chrX | 53619828 | ||||||
| chrX:53619842
|
C | T | 3 | a0001c0008t0004g0208a0001c0019t0003g0029a0001c0020t0003g0030 | 3 | HG01884.hp1 HG02559.hp1 HG02622.hp1 |
intron_variant | MODIFIER | c.1673-2396G>A | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 19/83 | chrX | 53619842 | ||||||
| chrX:53619941
|
C | T | 3 | a0001c0008t0004g0208a0001c0019t0003g0029a0001c0020t0003g0030 | 3 | HG01884.hp1 HG02559.hp1 HG02622.hp1 |
intron_variant | MODIFIER | c.1673-2495G>A | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 19/83 | chrX | 53619941 | ||||||
| chrX:53620031
|
C | A | 3 | a0001c0001t0003g0016a0001c0001t0003g0017a0001c0001t0003g0026 | 3 | HG00738.hp1 NA18522.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.1673-2585G>T | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 19/83 | chrX | 53620031 | ||||||
| chrX:53620251
|
A | AT | 1 | a0001c0001t0004g0207 | 1 | NA19067.hp1 | intron_variant | MODIFIER | c.1673-2806dupA | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 19/83 | chrX | 53620251 | ||||||
| chrX:53620253
|
TTG | T | 8 | a0001c0001t0001g0064a0001c0001t0001g0094a0001c0001t0001g0096others(5): Show | 8 | HG01071.hp1 HG01258.hp1 HG01358.hp1 others(5): Show |
intron_variant | MODIFIER | c.1673-2809_1673-280 others(6): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 19/83 | chrX | 53620253 | ||||||
| chrX:53620254
|
TG | T | 61 | a0001c0001t0001g0063a0001c0001t0001g0069a0001c0001t0001g0070others(58): Show | 62 | HG00099.hp1 HG00438.hp1 HG00544.hp1 others(59): Show |
intron_variant | MODIFIER | c.1673-2809delC | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 19/83 | chrX | 53620254 | ||||||
| chrX:53620254
|
TGTC | T | 1 | a0001c0001t0006g0005 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.1673-2811_1673-280 others(7): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 19/83 | chrX | 53620254 | ||||||
| chrX:53620255
|
G | T | 11 | a0001c0001t0001g0081a0001c0001t0001g0082a0001c0001t0001g0093others(8): Show | 11 | HG02148.hp1 HG02615.hp1 NA18942.hp2 others(8): Show |
intron_variant | MODIFIER | c.1673-2809C>A | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 19/83 | chrX | 53620255 | ||||||
| chrX:53620257
|
C | T | 80 | a0001c0001t0001g0063a0001c0001t0001g0064a0001c0001t0001g0069others(77): Show | 81 | HG00099.hp1 HG00438.hp1 HG00544.hp1 others(78): Show |
intron_variant | MODIFIER | c.1673-2811G>A | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 19/83 | chrX | 53620257 | ||||||
| chrX:53620533
|
C | A | 1 | a0001c0002t0002g0135 | 1 | HG03490.hp1 | intron_variant | MODIFIER | c.1673-3087G>T | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 19/83 | chrX | 53620533 | ||||||
| chrX:53620550
|
T | G | 1 | a0001c0007t0001g0108 | 1 | HG01192.hp1 | intron_variant | MODIFIER | c.1673-3104A>C | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 19/83 | chrX | 53620550 | ||||||
| chrX:53620644
|
T | G | 211 | a0001c0001t0001g0063a0001c0001t0001g0064a0001c0001t0001g0069others(208): Show | 212 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(209): Show |
intron_variant | MODIFIER | c.1673-3198A>C | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 19/83 | chrX | 53620644 | ||||||
| chrX:53621036
|
A | G | 1 | a0001c0001t0011g0008 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.1672+3559T>C | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 19/83 | chrX | 53621036 | ||||||
| chrX:53621409
|
A | C | 1 | a0001c0020t0003g0030 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.1672+3186T>G | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 19/83 | chrX | 53621409 | ||||||
| chrX:53621432
|
C | T | 1 | a0001c0001t0003g0026 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.1672+3163G>A | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 19/83 | chrX | 53621432 | ||||||
| chrX:53621600
|
T | C | 1 | a0001c0008t0004g0208 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.1672+2995A>G | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 19/83 | chrX | 53621600 | ||||||
| chrX:53621792
|
G | A | 1 | a0001c0003t0002g0151 | 1 | HG02129.hp1 | intron_variant | MODIFIER | c.1672+2803C>T | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 19/83 | chrX | 53621792 | ||||||
| chrX:53621903
|
G | A | 84 | a0001c0001t0001g0063a0001c0001t0001g0064a0001c0001t0001g0069others(81): Show | 85 | HG00099.hp1 HG00438.hp1 HG00544.hp1 others(82): Show |
intron_variant | MODIFIER | c.1672+2692C>T | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 19/83 | chrX | 53621903 | ||||||
| chrX:53621999
|
A | G | 1 | a0001c0008t0004g0208 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.1672+2596T>C | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 19/83 | chrX | 53621999 | ||||||
| chrX:53622149
|
C | A | 1 | a0001c0001t0001g0082 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.1672+2446G>T | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 19/83 | chrX | 53622149 | ||||||
| chrX:53622356
|
C | T | 26 | a0001c0001t0002g0177a0001c0001t0002g0178a0001c0001t0002g0179others(23): Show | 26 | HG00735.hp2 HG01081.hp2 HG01167.hp1 others(23): Show |
intron_variant | MODIFIER | c.1672+2239G>A | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 19/83 | chrX | 53622356 | ||||||
| chrX:53622498
|
G | GT | 2 | a0001c0002t0002g0135a0001c0002t0002g0150 | 2 | HG03490.hp1 HG04115.hp1 |
intron_variant | MODIFIER | c.1672+2096dupA | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 19/83 | chrX | 53622498 | ||||||
| chrX:53622531
|
G | A | 78 | a0001c0002t0001g0065a0001c0002t0002g0123a0001c0002t0002g0126others(75): Show | 78 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(75): Show |
intron_variant | MODIFIER | c.1672+2064C>T | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 19/83 | chrX | 53622531 | ||||||
| chrX:53622714
|
TA | T | 2 | a0001c0002t0009g0124a0001c0002t0009g0169 | 2 | HG02738.hp1 NA18949.hp1 |
intron_variant | MODIFIER | c.1672+1880delT | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 19/83 | chrX | 53622714 | ||||||
| chrX:53623105
|
C | T | 1 | a0001c0002t0003g0025 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.1672+1490G>A | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 19/83 | chrX | 53623105 | ||||||
| chrX:53623266
|
T | C | 29 | a0001c0001t0002g0177a0001c0001t0002g0178a0001c0001t0002g0179others(26): Show | 29 | HG00735.hp2 HG01081.hp2 HG01167.hp1 others(26): Show |
intron_variant | MODIFIER | c.1672+1329A>G | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 19/83 | chrX | 53623266 | ||||||
| chrX:53623373
|
C | CA | 1 | a0001c0001t0004g0207 | 1 | NA19067.hp1 | intron_variant | MODIFIER | c.1672+1221dupT | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 19/83 | chrX | 53623373 | ||||||
| chrX:53623422
|
C | T | 1 | a0001c0001t0001g0093 | 1 | NA18990.hp1 | intron_variant | MODIFIER | c.1672+1173G>A | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 19/83 | chrX | 53623422 | ||||||
| chrX:53623494
|
T | C | 1 | a0001c0001t0003g0016 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.1672+1101A>G | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 19/83 | chrX | 53623494 | ||||||
| chrX:53623640
|
A | G | 1 | a0001c0002t0007g0210 | 1 | HG02071.hp1 | intron_variant | MODIFIER | c.1672+955T>C | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 19/83 | chrX | 53623640 | ||||||
| chrX:53623646
|
C | CA | 5 | a0001c0001t0002g0178a0001c0001t0003g0040a0001c0001t0003g0041others(2): Show | 5 | HG01255.hp1 HG02809.hp2 HG02965.hp1 others(2): Show |
intron_variant | MODIFIER | c.1672+948dupT | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 19/83 | chrX | 53623646 | ||||||
| chrX:53624011
|
C | G | 1 | a0001c0008t0004g0208 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.1672+584G>C | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 19/83 | chrX | 53624011 | ||||||
| chrX:53624110
|
G | T | 2 | a0001c0001t0001g0075a0001c0001t0001g0087 | 2 | NA18970.hp1 NA19000.hp1 |
intron_variant | MODIFIER | c.1672+485C>A | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 19/83 | chrX | 53624110 | ||||||
| chrX:53624368
|
G | C | 1 | a0001c0019t0003g0029 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.1672+227C>G | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 19/83 | chrX | 53624368 | ||||||
| chrX:53624392
|
G | C | 1 | a0001c0008t0004g0208 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.1672+203C>G | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 19/83 | chrX | 53624392 | ||||||
| chrX:53624463
|
C | T | 167 | a0001c0001t0001g0063a0001c0001t0001g0064a0001c0001t0001g0069others(164): Show | 168 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(165): Show |
intron_variant | MODIFIER | c.1672+132G>A | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 19/83 | chrX | 53624463 | ||||||
| chrX:53624478
|
T | C | 2 | a0001c0001t0003g0035a0001c0001t0014g0034 | 2 | HG02083.hp1 NA18986.hp1 |
intron_variant | MODIFIER | c.1672+117A>G | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 19/83 | chrX | 53624478 | ||||||
| chrX:53624513
|
A | G | 1 | a0001c0001t0004g0190 | 1 | HG01978.hp1 | intron_variant | MODIFIER | c.1672+82T>C | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 19/83 | chrX | 53624513 | ||||||
| chrX:53624841
|
C | T | 1 | a0001c0001t0003g0031 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.1592-166G>A | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 18/83 | chrX | 53624841 | ||||||
| chrX:53624851
|
G | A | 1 | a0001c0001t0004g0189 | 1 | NA18984.hp1 | intron_variant | MODIFIER | c.1592-176C>T | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 18/83 | chrX | 53624851 | ||||||
| chrX:53624862
|
C | T | 211 | a0001c0001t0001g0063a0001c0001t0001g0064a0001c0001t0001g0069others(208): Show | 212 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(209): Show |
intron_variant | MODIFIER | c.1592-187G>A | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 18/83 | chrX | 53624862 | ||||||
| chrX:53624873
|
A | G | 1 | a0001c0008t0004g0208 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.1592-198T>C | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 18/83 | chrX | 53624873 | ||||||
| chrX:53624892
|
T | G | 1 | a0001c0001t0003g0041 | 1 | HG01255.hp1 | intron_variant | MODIFIER | c.1592-217A>C | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 18/83 | chrX | 53624892 | ||||||
| chrX:53625104
|
A | C | 1 | a0001c0008t0004g0208 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.1591+53T>G | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 18/83 | chrX | 53625104 | ||||||
| chrX:53625699
|
C | T | 1 | a0001c0002t0005g0121 | 1 | HG02004.hp1 | intron_variant | MODIFIER | c.1490-441G>A | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 17/83 | chrX | 53625699 | ||||||
| chrX:53625817
|
A | G | 2 | a0001c0001t0001g0099a0001c0002t0002g0183 | 2 | HG02135.hp1 NA18946.hp1 |
intron_variant | MODIFIER | c.1490-559T>C | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 17/83 | chrX | 53625817 | ||||||
| chrX:53625853
|
A | G | 13 | a0001c0001t0001g0071a0001c0001t0001g0073a0001c0001t0001g0076others(10): Show | 13 | HG00609.hp1 HG01106.hp1 HG01243.hp1 others(10): Show |
intron_variant | MODIFIER | c.1490-595T>C | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 17/83 | chrX | 53625853 | ||||||
| chrX:53625870
|
C | T | 1 | a0001c0015t0002g0130 | 1 | NA18961.hp1 | intron_variant | MODIFIER | c.1490-612G>A | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 17/83 | chrX | 53625870 | ||||||
| chrX:53625883
|
A | G | 97 | a0001c0001t0001g0063a0001c0001t0001g0064a0001c0001t0001g0069others(94): Show | 98 | HG00099.hp1 HG00438.hp1 HG00544.hp1 others(95): Show |
intron_variant | MODIFIER | c.1490-625T>C | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 17/83 | chrX | 53625883 | ||||||
| chrX:53626216
|
C | CGT | 5 | a0001c0001t0003g0017a0001c0001t0003g0026a0001c0001t0003g0035others(2): Show | 5 | HG00323.hp2 HG02083.hp1 NA18522.hp1 others(2): Show |
intron_variant | MODIFIER | c.1490-960_1490-959d others(4): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 17/83 | chrX | 53626216 | ||||||
| chrX:53626216
|
C | CGTGT | 1 | a0004c0010t0003g0061 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.1490-962_1490-959d others(6): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 17/83 | chrX | 53626216 | ||||||
| chrX:53626216
|
C | CGTGTGT | 2 | a0001c0001t0003g0016a0001c0005t0008g0027 | 2 | HG00738.hp1 HG03516.hp1 |
intron_variant | MODIFIER | c.1490-964_1490-959d others(8): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 17/83 | chrX | 53626216 | ||||||
| chrX:53626216
|
C | CGTGTGTG others(1): Show |
2 | a0001c0001t0015g0062a0001c0008t0004g0208 | 2 | HG02055.hp1 HG02622.hp1 |
intron_variant | MODIFIER | c.1490-966_1490-959d others(10): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 17/83 | chrX | 53626216 | ||||||
| chrX:53626216
|
CGT | C | 23 | a0001c0001t0003g0033a0001c0001t0003g0038a0001c0001t0003g0039others(20): Show | 23 | HG00597.hp1 HG00735.hp2 HG01167.hp1 others(20): Show |
intron_variant | MODIFIER | c.1490-960_1490-959d others(4): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 17/83 | chrX | 53626216 | ||||||
| chrX:53626216
|
CGTGT | C | 20 | a0001c0001t0002g0172a0001c0001t0002g0177a0001c0001t0002g0178others(17): Show | 21 | HG01081.hp2 HG01192.hp1 HG02258.hp1 others(18): Show |
intron_variant | MODIFIER | c.1490-962_1490-959d others(6): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 17/83 | chrX | 53626216 | ||||||
| chrX:53626216
|
CGTGTGT | C | 132 | a0001c0001t0001g0063a0001c0001t0001g0064a0001c0001t0001g0069others(129): Show | 132 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(129): Show |
intron_variant | MODIFIER | c.1490-964_1490-959d others(8): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 17/83 | chrX | 53626216 | ||||||
| chrX:53626216
|
CGTGTGTG others(1): Show |
C | 14 | a0001c0001t0004g0187a0001c0001t0018g0184a0001c0002t0002g0131others(11): Show | 14 | HG00280.hp1 HG01109.hp1 HG01928.hp1 others(11): Show |
intron_variant | MODIFIER | c.1490-966_1490-959d others(10): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 17/83 | chrX | 53626216 | ||||||
| chrX:53626216
|
CGTGTGTG others(3): Show |
C | 5 | a0001c0001t0001g0085a0001c0002t0002g0147a0001c0002t0002g0161others(2): Show | 5 | HG01261.hp1 HG01496.hp2 HG01943.hp1 others(2): Show |
intron_variant | MODIFIER | c.1490-968_1490-959d others(12): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 17/83 | chrX | 53626216 | ||||||
| chrX:53626216
|
CGTGTGTG others(5): Show |
C | 1 | a0001c0020t0003g0030 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.1490-970_1490-959d others(14): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 17/83 | chrX | 53626216 | ||||||
| chrX:53626304
|
T | C | 1 | a0001c0001t0003g0052 | 1 | HG00323.hp2 | intron_variant | MODIFIER | c.1490-1046A>G | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 17/83 | chrX | 53626304 | ||||||
| chrX:53626888
|
G | A | 1 | a0001c0001t0001g0098 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.1489+522C>T | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 17/83 | chrX | 53626888 | ||||||
| chrX:53627291
|
C | T | 1 | a0001c0001t0006g0007 | 1 | HG03688.hp1 | intron_variant | MODIFIER | c.1489+119G>A | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 17/83 | chrX | 53627291 | ||||||
| chrX:53627549
|
G | GTA | 1 | a0001c0001t0011g0008 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.1384-36_1384-35dup others(2): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 16/83 | chrX | 53627549 | ||||||
| chrX:53627563
|
ATT | A | 3 | a0001c0001t0001g0072a0001c0014t0002g0158a0005c0012t0016g0181 | 3 | HG02074.hp1 NA18974.hp1 NA20752.hp1 |
intron_variant | MODIFIER | c.1384-50_1384-49del others(2): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 16/83 | chrX | 53627563 | ||||||
| chrX:53627565
|
T | A | 209 | a0001c0001t0001g0063a0001c0001t0001g0064a0001c0001t0001g0069others(206): Show | 210 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(207): Show |
intron_variant | MODIFIER | c.1384-50A>T | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 16/83 | chrX | 53627565 | ||||||
| chrX:53627567
|
T | A | 207 | a0001c0001t0001g0063a0001c0001t0001g0064a0001c0001t0001g0070others(204): Show | 208 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(205): Show |
intron_variant | MODIFIER | c.1384-52A>T | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 16/83 | chrX | 53627567 | ||||||
| chrX:53627569
|
T | A | 1 | a0001c0002t0003g0023 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.1384-54A>T | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 16/83 | chrX | 53627569 | ||||||
| chrX:53628409
|
G | A | 2 | a0001c0019t0003g0029a0001c0020t0003g0030 | 2 | HG01884.hp1 HG02559.hp1 |
intron_variant | MODIFIER | c.1242+84C>T | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 15/83 | chrX | 53628409 | ||||||
| chrX:53628464
|
T | TA | 3 | a0001c0001t0001g0076a0001c0001t0004g0190a0001c0003t0002g0125 | 3 | HG00544.hp2 HG01978.hp1 NA18989.hp1 |
intron_variant | MODIFIER | c.1242+28dupT | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 15/83 | chrX | 53628464 | ||||||
| chrX:53628464
|
TA | T | 7 | a0001c0001t0001g0078a0001c0001t0001g0100a0001c0001t0003g0017others(4): Show | 7 | HG00099.hp1 HG01074.hp1 HG02735.hp1 others(4): Show |
intron_variant | MODIFIER | c.1242+28delT | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 15/83 | chrX | 53628464 | ||||||
| chrX:53629048
|
C | T | 211 | a0001c0001t0001g0063a0001c0001t0001g0064a0001c0001t0001g0069others(208): Show | 212 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(209): Show |
intron_variant | MODIFIER | c.964-146G>A | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 13/83 | chrX | 53629048 | ||||||
| chrX:53629438
|
C | G | 1 | a0001c0002t0002g0141 | 1 | HG03654.hp1 | intron_variant | MODIFIER | c.963+78G>C | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 13/83 | chrX | 53629438 | ||||||
| chrX:53629439
|
C | A | 4 | a0001c0001t0004g0203a0001c0002t0002g0131a0001c0019t0003g0029others(1): Show | 4 | HG01106.hp1 HG01884.hp1 HG02559.hp1 others(1): Show |
intron_variant | MODIFIER | c.963+77G>T | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 13/83 | chrX | 53629439 | ||||||
| chrX:53629498
|
A | G | 2 | a0001c0001t0003g0045a0001c0001t0003g0059 | 2 | HG02572.hp1 HG03041.hp1 |
intron_variant | MODIFIER | c.963+18T>C | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 13/83 | chrX | 53629498 | ||||||
| chrX:53629897
|
A | G | 1 | a0001c0003t0002g0151 | 1 | HG02129.hp1 | intron_variant | MODIFIER | c.863-281T>C | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 12/83 | chrX | 53629897 | ||||||
| chrX:53629903
|
T | TTTGATGT others(25): Show |
2 | a0001c0001t0001g0096a0001c0001t0001g0116 | 2 | HG01258.hp1 HG01496.hp1 |
intron_variant | MODIFIER | c.863-288_863-287ins others(32): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 12/83 | chrX | 53629903 | ||||||
| chrX:53629906
|
C | CA | 2 | a0001c0001t0001g0096a0001c0001t0001g0116 | 2 | HG01258.hp1 HG01496.hp1 |
intron_variant | MODIFIER | c.863-291_863-290ins others(1): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 12/83 | chrX | 53629906 | ||||||
| chrX:53629933
|
C | G | 2 | a0001c0019t0003g0029a0001c0020t0003g0030 | 2 | HG01884.hp1 HG02559.hp1 |
intron_variant | MODIFIER | c.863-317G>C | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 12/83 | chrX | 53629933 | ||||||
| chrX:53630078
|
A | G | 4 | a0001c0002t0002g0133a0001c0002t0002g0136a0001c0002t0002g0145others(1): Show | 4 | HG00140.hp1 HG01074.hp1 HG03491.hp2 others(1): Show |
intron_variant | MODIFIER | c.863-462T>C | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 12/83 | chrX | 53630078 | ||||||
| chrX:53630418
|
G | A | 1 | a0001c0001t0006g0004 | 1 | HG04184.hp2 | intron_variant | MODIFIER | c.862+517C>T | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 12/83 | chrX | 53630418 | ||||||
| chrX:53630581
|
G | A | 212 | a0001c0001t0001g0063a0001c0001t0001g0064a0001c0001t0001g0069others(209): Show | 213 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(210): Show |
intron_variant | MODIFIER | c.862+354C>T | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 12/83 | chrX | 53630581 | ||||||
| chrX:53630621
|
T | C | 1 | a0001c0019t0003g0029 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.862+314A>G | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 12/83 | chrX | 53630621 | ||||||
| chrX:53630637
|
A | AG | 1 | a0001c0008t0004g0208 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.862+297dupC | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 12/83 | chrX | 53630637 | ||||||
| chrX:53630673
|
T | TA | 1 | a0001c0001t0001g0095 | 1 | HG01081.hp1 | intron_variant | MODIFIER | c.862+261dupT | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 12/83 | chrX | 53630673 | ||||||
| chrX:53630709
|
C | T | 1 | a0001c0001t0001g0085 | 1 | HG03239.hp2 | intron_variant | MODIFIER | c.862+226G>A | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 12/83 | chrX | 53630709 | ||||||
| chrX:53631055
|
C | T | 1 | a0001c0004t0003g0013 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.763-21G>A | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 11/83 | chrX | 53631055 | ||||||
| chrX:53631197
|
TTA | T | 2 | a0001c0001t0003g0057a0001c0001t0003g0058 | 2 | HG01243.hp1 HG02615.hp2 |
intron_variant | MODIFIER | c.763-165_763-164del others(2): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 11/83 | chrX | 53631197 | ||||||
| chrX:53631489
|
T | TA | 1 | a0001c0019t0003g0029 | 1 | HG02559.hp1 | splice_region_variant&intron_variant | LOW | c.694-8dupT | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 10/83 | chrX | 53631489 | ||||||
| chrX:53631539
|
C | T | 1 | a0001c0001t0001g0111 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.693+28G>A | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 10/83 | chrX | 53631539 | ||||||
| chrX:53631632
|
A | G | 1 | a0001c0002t0003g0025 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.646-18T>C | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 9/83 | chrX | 53631632 | ||||||
| chrX:53631772
|
CA | C | 3 | a0001c0001t0003g0036a0001c0001t0003g0046a0001c0001t0015g0062 | 3 | HG01884.hp2 HG02055.hp1 HG03516.hp2 |
intron_variant | MODIFIER | c.646-159delT | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 9/83 | chrX | 53631772 | ||||||
| chrX:53632021
|
T | G | 1 | a0001c0001t0011g0008 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.646-407A>C | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 9/83 | chrX | 53632021 | ||||||
| chrX:53632095
|
C | T | 79 | a0001c0002t0001g0065a0001c0002t0002g0123a0001c0002t0002g0126others(76): Show | 79 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(76): Show |
intron_variant | MODIFIER | c.645+392G>A | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 9/83 | chrX | 53632095 | ||||||
| chrX:53632312
|
T | A | 1 | a0001c0001t0011g0008 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.645+175A>T | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 9/83 | chrX | 53632312 | ||||||
| chrX:53632572
|
T | TA | 1 | a0001c0001t0011g0008 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.568-9dupT | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 8/83 | chrX | 53632572 | ||||||
| chrX:53632578
|
AC | A | 1 | a0001c0001t0001g0113 | 1 | HG01433.hp1 | intron_variant | MODIFIER | c.568-15delG | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 8/83 | chrX | 53632578 | ||||||
| chrX:53632626
|
C | T | 4 | a0001c0004t0003g0010a0001c0004t0003g0011a0001c0004t0003g0012others(1): Show | 4 | HG02145.hp1 HG02809.hp1 HG03041.hp2 others(1): Show |
intron_variant | MODIFIER | c.568-62G>A | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 8/83 | chrX | 53632626 | ||||||
| chrX:53632707
|
G | A | 1 | a0001c0001t0003g0037 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.568-143C>T | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 8/83 | chrX | 53632707 | ||||||
| chrX:53633921
|
C | T | 1 | a0001c0001t0001g0112 | 1 | HG02056.hp1 | intron_variant | MODIFIER | c.567+315G>A | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 8/83 | chrX | 53633921 | ||||||
| chrX:53634010
|
ACT | A | 1 | a0001c0020t0003g0030 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.567+224_567+225del others(2): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 8/83 | chrX | 53634010 | ||||||
| chrX:53634024
|
AT | A | 2 | a0001c0019t0003g0029a0001c0020t0003g0030 | 2 | HG01884.hp1 HG02559.hp1 |
intron_variant | MODIFIER | c.567+211delA | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 8/83 | chrX | 53634024 | ||||||
| chrX:53634718
|
C | T | 1 | a0001c0005t0008g0027 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.505-420G>A | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 7/83 | chrX | 53634718 | ||||||
| chrX:53634762
|
CCT | C | 2 | a0001c0019t0003g0029a0001c0020t0003g0030 | 2 | HG01884.hp1 HG02559.hp1 |
intron_variant | MODIFIER | c.505-466_505-465del others(2): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 7/83 | chrX | 53634762 | ||||||
| chrX:53634966
|
TTTAACA | T | 2 | a0001c0002t0003g0009a0001c0002t0003g0023 | 2 | NA19055.hp1 NA19085.hp1 |
intron_variant | MODIFIER | c.505-674_505-669del others(6): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 7/83 | chrX | 53634966 | ||||||
| chrX:53635235
|
A | T | 8 | a0001c0001t0004g0001a0001c0001t0004g0190a0001c0001t0004g0191others(5): Show | 9 | HG00597.hp1 HG01978.hp1 NA18943.hp1 others(6): Show |
intron_variant | MODIFIER | c.505-937T>A | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 7/83 | chrX | 53635235 | ||||||
| chrX:53635417
|
C | T | 2 | a0001c0003t0001g0068a0001c0003t0002g0157 | 2 | HG02027.hp1 NA18940.hp1 |
intron_variant | MODIFIER | c.505-1119G>A | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 7/83 | chrX | 53635417 | ||||||
| chrX:53635868
|
C | A | 210 | a0001c0001t0001g0063a0001c0001t0001g0064a0001c0001t0001g0069others(207): Show | 211 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(208): Show |
intron_variant | MODIFIER | c.505-1570G>T | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 7/83 | chrX | 53635868 | ||||||
| chrX:53635868
|
C | G | 1 | a0001c0001t0002g0149 | 1 | HG00558.hp1 | intron_variant | MODIFIER | c.505-1570G>C | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 7/83 | chrX | 53635868 | ||||||
| chrX:53635874
|
T | C | 81 | a0001c0001t0002g0149a0001c0002t0001g0065a0001c0002t0002g0123others(78): Show | 81 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(78): Show |
intron_variant | MODIFIER | c.505-1576A>G | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 7/83 | chrX | 53635874 | ||||||
| chrX:53636355
|
AAAC | A | 1 | a0001c0001t0006g0007 | 1 | HG03688.hp1 | intron_variant | MODIFIER | c.505-2060_505-2058d others(5): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 7/83 | chrX | 53636355 | ||||||
| chrX:53636493
|
G | A | 1 | a0001c0001t0003g0038 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.505-2195C>T | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 7/83 | chrX | 53636493 | ||||||
| chrX:53636818
|
CTAAG | C | 2 | a0001c0019t0003g0029a0001c0020t0003g0030 | 2 | HG01884.hp1 HG02559.hp1 |
intron_variant | MODIFIER | c.505-2524_505-2521d others(6): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 7/83 | chrX | 53636818 | ||||||
| chrX:53636921
|
T | C | 1 | a0001c0001t0003g0035 | 1 | HG02083.hp1 | intron_variant | MODIFIER | c.505-2623A>G | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 7/83 | chrX | 53636921 | ||||||
| chrX:53637075
|
T | C | 4 | a0001c0002t0002g0133a0001c0002t0002g0136a0001c0002t0002g0145others(1): Show | 4 | HG00140.hp1 HG01074.hp1 HG03491.hp2 others(1): Show |
intron_variant | MODIFIER | c.505-2777A>G | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 7/83 | chrX | 53637075 | ||||||
| chrX:53637483
|
G | A | 1 | a0001c0001t0004g0202 | 1 | HG00733.hp1 | intron_variant | MODIFIER | c.505-3185C>T | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 7/83 | chrX | 53637483 | ||||||
| chrX:53637705
|
T | C | 1 | a0001c0001t0001g0089 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.505-3407A>G | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 7/83 | chrX | 53637705 | ||||||
| chrX:53637794
|
C | G | 1 | a0001c0001t0003g0050 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.505-3496G>C | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 7/83 | chrX | 53637794 | ||||||
| chrX:53638045
|
C | T | 2 | a0001c0019t0003g0029a0001c0020t0003g0030 | 2 | HG01884.hp1 HG02559.hp1 |
intron_variant | MODIFIER | c.505-3747G>A | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 7/83 | chrX | 53638045 | ||||||
| chrX:53638347
|
C | CA | 1 | a0001c0001t0001g0107 | 1 | NA18994.hp1 | intron_variant | MODIFIER | c.505-4050dupT | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 7/83 | chrX | 53638347 | ||||||
| chrX:53638470
|
C | T | 1 | a0001c0005t0008g0027 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.505-4172G>A | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 7/83 | chrX | 53638470 | ||||||
| chrX:53639152
|
C | G | 1 | a0001c0002t0002g0175 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.505-4854G>C | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 7/83 | chrX | 53639152 | ||||||
| chrX:53639407
|
C | T | 212 | a0001c0001t0001g0063a0001c0001t0001g0064a0001c0001t0001g0069others(209): Show | 213 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(210): Show |
intron_variant | MODIFIER | c.505-5109G>A | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 7/83 | chrX | 53639407 | ||||||
| chrX:53639692
|
C | T | 2 | a0001c0001t0001g0081a0001c0001t0001g0097 | 2 | NA18967.hp1 NA18971.hp1 |
intron_variant | MODIFIER | c.505-5394G>A | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 7/83 | chrX | 53639692 | ||||||
| chrX:53639754
|
G | T | 35 | a0001c0001t0002g0177a0001c0001t0002g0178a0001c0001t0002g0179others(32): Show | 35 | HG00323.hp2 HG00735.hp2 HG01081.hp2 others(32): Show |
intron_variant | MODIFIER | c.505-5456C>A | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 7/83 | chrX | 53639754 | ||||||
| chrX:53639788
|
T | TA | 35 | a0001c0001t0002g0177a0001c0001t0002g0178a0001c0001t0002g0179others(32): Show | 35 | HG00323.hp2 HG00735.hp2 HG01081.hp2 others(32): Show |
intron_variant | MODIFIER | c.505-5491dupT | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 7/83 | chrX | 53639788 | ||||||
| chrX:53640179
|
T | C | 212 | a0001c0001t0001g0063a0001c0001t0001g0064a0001c0001t0001g0069others(209): Show | 213 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(210): Show |
intron_variant | MODIFIER | c.504+5132A>G | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 7/83 | chrX | 53640179 | ||||||
| chrX:53640204
|
T | C | 1 | a0006c0018t0002g0171 | 1 | HG03831.hp1 | intron_variant | MODIFIER | c.504+5107A>G | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 7/83 | chrX | 53640204 | ||||||
| chrX:53640682
|
C | T | 78 | a0001c0001t0001g0104a0001c0002t0001g0065a0001c0002t0002g0123others(75): Show | 78 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(75): Show |
intron_variant | MODIFIER | c.504+4629G>A | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 7/83 | chrX | 53640682 | ||||||
| chrX:53640923
|
A | G | 84 | a0001c0001t0001g0063a0001c0001t0001g0064a0001c0001t0001g0069others(81): Show | 85 | HG00099.hp1 HG00438.hp1 HG00544.hp1 others(82): Show |
intron_variant | MODIFIER | c.504+4388T>C | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 7/83 | chrX | 53640923 | ||||||
| chrX:53641008
|
T | C | 1 | a0001c0001t0003g0044 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.504+4303A>G | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 7/83 | chrX | 53641008 | ||||||
| chrX:53641118
|
T | C | 1 | a0001c0002t0003g0025 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.504+4193A>G | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 7/83 | chrX | 53641118 | ||||||
| chrX:53641723
|
C | A | 1 | a0001c0001t0004g0189 | 1 | NA18984.hp1 | intron_variant | MODIFIER | c.504+3588G>T | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 7/83 | chrX | 53641723 | ||||||
| chrX:53641729
|
A | T | 1 | a0001c0001t0004g0189 | 1 | NA18984.hp1 | intron_variant | MODIFIER | c.504+3582T>A | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 7/83 | chrX | 53641729 | ||||||
| chrX:53642290
|
T | G | 1 | a0001c0002t0002g0175 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.504+3021A>C | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 7/83 | chrX | 53642290 | ||||||
| chrX:53642536
|
C | A | 1 | a0001c0001t0001g0098 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.504+2775G>T | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 7/83 | chrX | 53642536 | ||||||
| chrX:53642864
|
TA | T | 1 | a0001c0001t0001g0096 | 1 | HG01258.hp1 | intron_variant | MODIFIER | c.504+2446delT | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 7/83 | chrX | 53642864 | ||||||
| chrX:53642870
|
A | G | 1 | a0001c0001t0001g0118 | 1 | HG00735.hp1 | intron_variant | MODIFIER | c.504+2441T>C | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 7/83 | chrX | 53642870 | ||||||
| chrX:53643294
|
C | A | 2 | a0001c0001t0003g0016a0001c0001t0003g0017 | 2 | HG00738.hp1 NA18522.hp1 |
intron_variant | MODIFIER | c.504+2017G>T | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 7/83 | chrX | 53643294 | ||||||
| chrX:53643373
|
G | C | 1 | a0001c0001t0003g0026 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.504+1938C>G | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 7/83 | chrX | 53643373 | ||||||
| chrX:53643582
|
C | G | 1 | a0001c0004t0003g0013 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.504+1729G>C | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 7/83 | chrX | 53643582 | ||||||
| chrX:53643890
|
C | A | 79 | a0001c0002t0001g0065a0001c0002t0002g0123a0001c0002t0002g0126others(76): Show | 79 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(76): Show |
intron_variant | MODIFIER | c.504+1421G>T | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 7/83 | chrX | 53643890 | ||||||
| chrX:53644112
|
A | C | 1 | a0001c0001t0011g0008 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.504+1199T>G | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 7/83 | chrX | 53644112 | ||||||
| chrX:53644237
|
G | A | 1 | a0001c0002t0002g0135 | 1 | HG03490.hp1 | intron_variant | MODIFIER | c.504+1074C>T | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 7/83 | chrX | 53644237 | ||||||
| chrX:53644560
|
T | C | 1 | a0001c0002t0002g0128 | 1 | HG00642.hp1 | intron_variant | MODIFIER | c.504+751A>G | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 7/83 | chrX | 53644560 | ||||||
| chrX:53644618
|
T | G | 2 | a0001c0019t0003g0029a0001c0020t0003g0030 | 2 | HG01884.hp1 HG02559.hp1 |
intron_variant | MODIFIER | c.504+693A>C | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 7/83 | chrX | 53644618 | ||||||
| chrX:53644671
|
G | A | 212 | a0001c0001t0001g0063a0001c0001t0001g0064a0001c0001t0001g0069others(209): Show | 213 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(210): Show |
intron_variant | MODIFIER | c.504+640C>T | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 7/83 | chrX | 53644671 | ||||||
| chrX:53644774
|
G | A | 1 | a0001c0001t0003g0053 | 1 | HG00735.hp2 | intron_variant | MODIFIER | c.504+537C>T | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 7/83 | chrX | 53644774 | ||||||
| chrX:53645011
|
A | G | 4 | a0001c0004t0003g0010a0001c0004t0003g0011a0001c0004t0003g0012others(1): Show | 4 | HG02145.hp1 HG02809.hp1 HG03041.hp2 others(1): Show |
intron_variant | MODIFIER | c.504+300T>C | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 7/83 | chrX | 53645011 | ||||||
| chrX:53645195
|
G | T | 1 | a0001c0001t0011g0008 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.504+116C>A | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 7/83 | chrX | 53645195 | ||||||
| chrX:53645225
|
A | G | 1 | a0001c0020t0003g0030 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.504+86T>C | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 7/83 | chrX | 53645225 | ||||||
| chrX:53645236
|
C | T | 1 | a0001c0001t0003g0049 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.504+75G>A | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 7/83 | chrX | 53645236 | ||||||
| chrX:53645733
|
AAAAATAT | A | 1 | a0001c0001t0001g0069 | 1 | HG00544.hp1 | intron_variant | MODIFIER | c.352-277_352-271del others(7): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 6/83 | chrX | 53645733 | ||||||
| chrX:53645733
|
AAAAATAT others(2): Show |
A | 2 | a0001c0001t0004g0193a0001c0020t0003g0030 | 2 | HG01884.hp1 NA18995.hp1 |
intron_variant | MODIFIER | c.352-279_352-271del others(9): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 6/83 | chrX | 53645733 | ||||||
| chrX:53645733
|
AAAAATAT others(4): Show |
A | 2 | a0001c0001t0004g0202a0001c0017t0007g0212 | 2 | HG00733.hp1 HG04184.hp1 |
intron_variant | MODIFIER | c.352-281_352-271del others(11): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 6/83 | chrX | 53645733 | ||||||
| chrX:53645733
|
AAAAATAT others(6): Show |
A | 6 | a0001c0002t0002g0135a0001c0002t0005g0120a0001c0003t0002g0143others(3): Show | 6 | HG01928.hp1 HG03490.hp1 NA18957.hp1 others(3): Show |
intron_variant | MODIFIER | c.352-283_352-271del others(13): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 6/83 | chrX | 53645733 | ||||||
| chrX:53645734
|
AAAATATA others(1): Show |
A | 2 | a0001c0002t0002g0128a0001c0008t0004g0208 | 2 | HG00642.hp1 HG02622.hp1 |
intron_variant | MODIFIER | c.352-279_352-272del others(8): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 6/83 | chrX | 53645734 | ||||||
| chrX:53645734
|
AAAATATA others(5): Show |
A | 4 | a0001c0001t0003g0016a0001c0001t0003g0026a0001c0002t0002g0166others(1): Show | 4 | HG00738.hp1 HG01517.hp1 NA19043.hp1 others(1): Show |
intron_variant | MODIFIER | c.352-283_352-272del others(12): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 6/83 | chrX | 53645734 | ||||||
| chrX:53645734
|
AAAATATA others(7): Show |
A | 2 | a0001c0001t0011g0008a0001c0002t0003g0022 | 2 | NA19030.hp1 NA19087.hp2 |
intron_variant | MODIFIER | c.352-285_352-272del others(14): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 6/83 | chrX | 53645734 | ||||||
| chrX:53645734
|
AAAATATA others(9): Show |
A | 1 | a0001c0002t0002g0129 | 1 | NA19068.hp1 | intron_variant | MODIFIER | c.352-287_352-272del others(16): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 6/83 | chrX | 53645734 | ||||||
| chrX:53645735
|
AAATAT | A | 3 | a0001c0001t0006g0003a0001c0001t0006g0004a0001c0001t0010g0002 | 3 | HG02602.hp1 HG02735.hp1 HG04184.hp2 |
intron_variant | MODIFIER | c.352-277_352-273del others(5): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 6/83 | chrX | 53645735 | ||||||
| chrX:53645735
|
AAATATAT | A | 1 | a0001c0001t0001g0100 | 1 | HG00099.hp1 | intron_variant | MODIFIER | c.352-279_352-273del others(7): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 6/83 | chrX | 53645735 | ||||||
| chrX:53645735
|
AAATATAT others(2): Show |
A | 13 | a0001c0001t0001g0091a0001c0001t0004g0001a0001c0001t0004g0191others(10): Show | 14 | HG00140.hp1 HG00597.hp1 HG02015.hp1 others(11): Show |
intron_variant | MODIFIER | c.352-281_352-273del others(9): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 6/83 | chrX | 53645735 | ||||||
| chrX:53645735
|
AAATATAT others(4): Show |
A | 9 | a0001c0001t0001g0098a0001c0002t0002g0133a0001c0002t0002g0134others(6): Show | 9 | HG00621.hp1 HG01074.hp1 HG03239.hp1 others(6): Show |
intron_variant | MODIFIER | c.352-283_352-273del others(11): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 6/83 | chrX | 53645735 | ||||||
| chrX:53645735
|
AAATATAT others(6): Show |
A | 35 | a0001c0002t0002g0155a0001c0002t0002g0156a0001c0002t0002g0175others(32): Show | 35 | HG00099.hp2 HG00280.hp1 HG00438.hp2 others(32): Show |
intron_variant | MODIFIER | c.352-285_352-273del others(13): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 6/83 | chrX | 53645735 | ||||||
| chrX:53645735
|
AAATATAT others(8): Show |
A | 1 | a0001c0002t0002g0182 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.352-287_352-273del others(15): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 6/83 | chrX | 53645735 | ||||||
| chrX:53645736
|
A | AT | 1 | a0001c0004t0003g0013 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.352-274_352-273ins others(1): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 6/83 | chrX | 53645736 | ||||||
| chrX:53645736
|
AAT | A | 1 | a0001c0005t0008g0027 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.352-275_352-274del others(2): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 6/83 | chrX | 53645736 | ||||||
| chrX:53645736
|
AATAT | A | 2 | a0001c0001t0003g0046a0001c0001t0015g0062 | 2 | HG02055.hp1 HG03516.hp2 |
intron_variant | MODIFIER | c.352-277_352-274del others(4): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 6/83 | chrX | 53645736 | ||||||
| chrX:53645736
|
AATATAT | A | 4 | a0001c0001t0001g0115a0001c0004t0003g0010a0001c0004t0003g0011others(1): Show | 4 | HG02145.hp1 HG02809.hp1 HG03579.hp1 others(1): Show |
intron_variant | MODIFIER | c.352-279_352-274del others(6): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 6/83 | chrX | 53645736 | ||||||
| chrX:53645736
|
AATATATA others(1): Show |
A | 6 | a0001c0001t0001g0064a0001c0001t0001g0082a0001c0001t0001g0087others(3): Show | 6 | HG02056.hp1 HG02615.hp1 HG03041.hp1 others(3): Show |
intron_variant | MODIFIER | c.352-281_352-274del others(8): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 6/83 | chrX | 53645736 | ||||||
| chrX:53645736
|
AATATATA others(3): Show |
A | 11 | a0001c0001t0001g0076a0001c0001t0001g0092a0001c0001t0001g0107others(8): Show | 11 | HG01952.hp1 HG02080.hp1 HG02083.hp1 others(8): Show |
intron_variant | MODIFIER | c.352-283_352-274del others(10): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 6/83 | chrX | 53645736 | ||||||
| chrX:53645736
|
AATATATA others(5): Show |
A | 8 | a0001c0001t0002g0177a0001c0001t0003g0040a0001c0001t0003g0041others(5): Show | 8 | HG01081.hp2 HG01255.hp1 HG01256.hp1 others(5): Show |
intron_variant | MODIFIER | c.352-285_352-274del others(12): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 6/83 | chrX | 53645736 | ||||||
| chrX:53645736
|
AATATATA others(7): Show |
A | 2 | a0001c0002t0003g0009a0001c0002t0003g0024 | 2 | NA18952.hp1 NA19055.hp1 |
intron_variant | MODIFIER | c.352-287_352-274del others(14): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 6/83 | chrX | 53645736 | ||||||
| chrX:53645736
|
AATATATA others(19): Show |
A | 1 | a0001c0019t0003g0029 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.352-299_352-274del others(26): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 6/83 | chrX | 53645736 | ||||||
| chrX:53645737
|
ATAT | A | 1 | a0001c0001t0001g0099 | 1 | NA18946.hp1 | intron_variant | MODIFIER | c.352-277_352-275del others(3): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 6/83 | chrX | 53645737 | ||||||
| chrX:53645737
|
ATATAT | A | 1 | a0001c0001t0003g0036 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.352-279_352-275del others(5): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 6/83 | chrX | 53645737 | ||||||
| chrX:53645737
|
ATATATAT | A | 7 | a0001c0001t0001g0078a0001c0001t0003g0057a0001c0001t0003g0058others(4): Show | 7 | HG01243.hp1 HG02615.hp2 NA18945.hp1 others(4): Show |
intron_variant | MODIFIER | c.352-281_352-275del others(7): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 6/83 | chrX | 53645737 | ||||||
| chrX:53645737
|
ATATATAT others(2): Show |
A | 53 | a0001c0001t0001g0063a0001c0001t0001g0070a0001c0001t0001g0071others(50): Show | 53 | HG00323.hp2 HG00438.hp1 HG00558.hp1 others(50): Show |
intron_variant | MODIFIER | c.352-283_352-275del others(9): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 6/83 | chrX | 53645737 | ||||||
| chrX:53645737
|
ATATATAT others(4): Show |
A | 21 | a0001c0001t0001g0113a0001c0001t0001g0114a0001c0001t0002g0178others(18): Show | 21 | HG00735.hp2 HG00741.hp1 HG01099.hp1 others(18): Show |
intron_variant | MODIFIER | c.352-285_352-275del others(11): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 6/83 | chrX | 53645737 | ||||||
| chrX:53645737
|
ATATATAT others(6): Show |
A | 9 | a0001c0002t0002g0127a0001c0002t0002g0147a0001c0002t0002g0159others(6): Show | 9 | HG00323.hp1 HG01071.hp2 HG01261.hp1 others(6): Show |
intron_variant | MODIFIER | c.352-287_352-275del others(13): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 6/83 | chrX | 53645737 | ||||||
| chrX:53645737
|
ATATATAT others(8): Show |
A | 2 | a0001c0002t0002g0168a0001c0002t0007g0209 | 2 | HG00597.hp2 NA18959.hp1 |
intron_variant | MODIFIER | c.352-289_352-275del others(15): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 6/83 | chrX | 53645737 | ||||||
| chrX:53645742
|
T | A | 2 | a0001c0001t0003g0046a0001c0001t0015g0062 | 2 | HG02055.hp1 HG03516.hp2 |
intron_variant | MODIFIER | c.352-279A>T | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 6/83 | chrX | 53645742 | ||||||
| chrX:53645744
|
T | A | 5 | a0001c0001t0001g0069a0001c0001t0001g0115a0001c0001t0003g0036others(2): Show | 5 | HG00544.hp1 HG01884.hp2 HG02055.hp1 others(2): Show |
intron_variant | MODIFIER | c.352-281A>T | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 6/83 | chrX | 53645744 | ||||||
| chrX:53645746
|
T | A | 11 | a0001c0001t0001g0064a0001c0001t0001g0069a0001c0001t0001g0078others(8): Show | 11 | HG00544.hp1 HG02055.hp1 HG02056.hp1 others(8): Show |
intron_variant | MODIFIER | c.352-283A>T | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 6/83 | chrX | 53645746 | ||||||
| chrX:53645748
|
T | A | 28 | a0001c0001t0001g0079a0001c0001t0001g0080a0001c0001t0001g0081others(25): Show | 28 | HG00323.hp2 HG00735.hp1 HG01069.hp1 others(25): Show |
intron_variant | MODIFIER | c.352-285A>T | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 6/83 | chrX | 53645748 | ||||||
| chrX:53645750
|
T | A | 27 | a0001c0001t0001g0114a0001c0001t0002g0177a0001c0001t0002g0178others(24): Show | 27 | HG00323.hp2 HG00735.hp2 HG00741.hp1 others(24): Show |
intron_variant | MODIFIER | c.352-287A>T | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 6/83 | chrX | 53645750 | ||||||
| chrX:53645752
|
T | A | 14 | a0001c0001t0003g0031a0001c0001t0003g0032a0001c0001t0003g0033others(11): Show | 14 | HG00735.hp2 HG01167.hp1 HG01169.hp2 others(11): Show |
intron_variant | MODIFIER | c.352-289A>T | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 6/83 | chrX | 53645752 | ||||||
| chrX:53645754
|
T | A | 5 | a0001c0001t0003g0031a0001c0001t0003g0032a0001c0001t0003g0035others(2): Show | 5 | HG02083.hp1 HG02622.hp2 HG02895.hp1 others(2): Show |
intron_variant | MODIFIER | c.352-291A>T | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 6/83 | chrX | 53645754 | ||||||
| chrX:53646006
|
T | A | 1 | a0001c0001t0001g0072 | 1 | NA20752.hp1 | intron_variant | MODIFIER | c.352-543A>T | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 6/83 | chrX | 53646006 | ||||||
| chrX:53646035
|
A | T | 36 | a0001c0001t0002g0177a0001c0001t0002g0178a0001c0001t0002g0179others(33): Show | 36 | HG00323.hp2 HG00735.hp2 HG01081.hp2 others(33): Show |
intron_variant | MODIFIER | c.352-572T>A | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 6/83 | chrX | 53646035 | ||||||
| chrX:53646047
|
G | T | 3 | a0001c0001t0006g0003a0001c0001t0006g0004a0001c0001t0010g0002 | 3 | HG02602.hp1 HG02735.hp1 HG04184.hp2 |
intron_variant | MODIFIER | c.352-584C>A | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 6/83 | chrX | 53646047 | ||||||
| chrX:53646093
|
TATATAAC | T | 1 | a0001c0003t0002g0162 | 1 | HG02080.hp2 | intron_variant | MODIFIER | c.352-637_352-631del others(7): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 6/83 | chrX | 53646093 | ||||||
| chrX:53646207
|
G | T | 2 | a0001c0001t0001g0069a0001c0001t0001g0117 | 2 | HG00544.hp1 NA19056.hp1 |
intron_variant | MODIFIER | c.352-744C>A | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 6/83 | chrX | 53646207 | ||||||
| chrX:53646320
|
G | A | 4 | a0001c0004t0003g0010a0001c0004t0003g0011a0001c0004t0003g0012others(1): Show | 4 | HG02145.hp1 HG02809.hp1 HG03041.hp2 others(1): Show |
intron_variant | MODIFIER | c.352-857C>T | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 6/83 | chrX | 53646320 | ||||||
| chrX:53646344
|
G | A | 1 | a0001c0001t0011g0008 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.352-881C>T | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 6/83 | chrX | 53646344 | ||||||
| chrX:53647097
|
TTCCTTAA others(17): Show |
T | 1 | a0001c0001t0001g0090 | 1 | NA18612.hp1 | intron_variant | MODIFIER | c.351+247_351+270del others(24): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 6/83 | chrX | 53647097 | ||||||
| chrX:53647099
|
C | T | 1 | a0001c0002t0002g0134 | 1 | HG03239.hp1 | intron_variant | MODIFIER | c.351+269G>A | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 6/83 | chrX | 53647099 | ||||||
| chrX:53647108
|
C | CT | 3 | a0001c0001t0003g0035a0001c0001t0003g0052a0001c0001t0014g0034 | 3 | HG00323.hp2 HG02083.hp1 NA18986.hp1 |
intron_variant | MODIFIER | c.351+259dupA | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 6/83 | chrX | 53647108 | ||||||
| chrX:53647352
|
C | G | 1 | a0001c0002t0002g0175 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.351+16G>C | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 6/83 | chrX | 53647352 | ||||||
| chrX:53647829
|
CG | C | 1 | a0001c0002t0009g0124 | 1 | NA18949.hp1 | intron_variant | MODIFIER | c.145-256delC | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 5/83 | chrX | 53647829 | ||||||
| chrX:53647885
|
T | C | 1 | a0001c0002t0012g0020 | 1 | HG01517.hp1 | intron_variant | MODIFIER | c.145-311A>G | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 5/83 | chrX | 53647885 | ||||||
| chrX:53648057
|
TG | T | 1 | a0001c0002t0009g0124 | 1 | NA18949.hp1 | intron_variant | MODIFIER | c.144+154delC | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 5/83 | chrX | 53648057 | ||||||
| chrX:53648523
|
T | TA | 4 | a0001c0001t0003g0049a0001c0001t0003g0058a0001c0001t0011g0008others(1): Show | 4 | HG01243.hp1 HG02559.hp1 NA19030.hp1 others(1): Show |
intron_variant | MODIFIER | c.46-214dupT | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 4/83 | chrX | 53648523 | ||||||
| chrX:53648530
|
C | A | 38 | a0001c0001t0002g0177a0001c0001t0002g0178a0001c0001t0002g0179others(35): Show | 38 | HG00323.hp2 HG00735.hp2 HG01081.hp2 others(35): Show |
intron_variant | MODIFIER | c.46-220G>T | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 4/83 | chrX | 53648530 | ||||||
| chrX:53648530
|
C | CA | 1 | a0002c0011t0001g0109 | 1 | HG01952.hp1 | intron_variant | MODIFIER | c.46-221dupT | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 4/83 | chrX | 53648530 | ||||||
| chrX:53648535
|
A | C | 79 | a0001c0002t0001g0065a0001c0002t0002g0123a0001c0002t0002g0126others(76): Show | 79 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(76): Show |
intron_variant | MODIFIER | c.46-225T>G | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 4/83 | chrX | 53648535 | ||||||
| chrX:53648540
|
C | A | 1 | a0001c0001t0003g0060 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.46-230G>T | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 4/83 | chrX | 53648540 | ||||||
| chrX:53648540
|
C | CA | 1 | a0001c0001t0004g0207 | 1 | NA19067.hp1 | intron_variant | MODIFIER | c.46-231dupT | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 4/83 | chrX | 53648540 | ||||||
| chrX:53648543
|
A | AAC | 3 | a0001c0001t0003g0031a0001c0001t0003g0032a0001c0001t0003g0044 | 3 | HG02622.hp2 HG02895.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.46-234_46-233insGT | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 4/83 | chrX | 53648543 | ||||||
| chrX:53648544
|
A | AC | 33 | a0001c0001t0002g0177a0001c0001t0002g0178a0001c0001t0002g0179others(30): Show | 33 | HG00323.hp2 HG00735.hp2 HG01081.hp2 others(30): Show |
intron_variant | MODIFIER | c.46-235_46-234insG | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 4/83 | chrX | 53648544 | ||||||
| chrX:53648545
|
A | C | 79 | a0001c0002t0001g0065a0001c0002t0002g0123a0001c0002t0002g0126others(76): Show | 79 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(76): Show |
intron_variant | MODIFIER | c.46-235T>G | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 4/83 | chrX | 53648545 | ||||||
| chrX:53648550
|
C | A | 36 | a0001c0001t0002g0177a0001c0001t0002g0178a0001c0001t0002g0179others(33): Show | 36 | HG00323.hp2 HG00735.hp2 HG01081.hp2 others(33): Show |
intron_variant | MODIFIER | c.46-240G>T | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 4/83 | chrX | 53648550 | ||||||
| chrX:53648652
|
T | TA | 195 | a0001c0001t0001g0063a0001c0001t0001g0064a0001c0001t0001g0069others(192): Show | 196 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(193): Show |
intron_variant | MODIFIER | c.46-343dupT | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 4/83 | chrX | 53648652 | ||||||
| chrX:53648652
|
T | TAA | 11 | a0001c0001t0003g0036a0001c0001t0003g0040a0001c0001t0003g0041others(8): Show | 11 | HG00733.hp1 HG01255.hp1 HG01884.hp2 others(8): Show |
intron_variant | MODIFIER | c.46-344_46-343dupTT | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 4/83 | chrX | 53648652 | ||||||
| chrX:53648847
|
G | A | 6 | a0001c0002t0002g0147a0001c0002t0002g0159a0001c0002t0002g0160others(3): Show | 6 | HG01071.hp2 HG01261.hp1 HG01496.hp2 others(3): Show |
intron_variant | MODIFIER | c.46-537C>T | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 4/83 | chrX | 53648847 | ||||||
| chrX:53649020
|
C | T | 1 | a0001c0003t0002g0132 | 1 | NA18983.hp1 | intron_variant | MODIFIER | c.46-710G>A | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 4/83 | chrX | 53649020 | ||||||
| chrX:53649301
|
A | G | 1 | a0001c0001t0003g0038 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.46-991T>C | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 4/83 | chrX | 53649301 | ||||||
| chrX:53649463
|
C | T | 1 | a0001c0001t0003g0052 | 1 | HG00323.hp2 | intron_variant | MODIFIER | c.46-1153G>A | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 4/83 | chrX | 53649463 | ||||||
| chrX:53649644
|
T | C | 9 | a0001c0001t0003g0035a0001c0001t0003g0036a0001c0001t0003g0046others(6): Show | 9 | HG00323.hp2 HG01243.hp1 HG01884.hp2 others(6): Show |
intron_variant | MODIFIER | c.46-1334A>G | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 4/83 | chrX | 53649644 | ||||||
| chrX:53649682
|
A | G | 1 | a0001c0001t0003g0049 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.46-1372T>C | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 4/83 | chrX | 53649682 | ||||||
| chrX:53649748
|
A | G | 1 | a0001c0005t0008g0027 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.46-1438T>C | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 4/83 | chrX | 53649748 | ||||||
| chrX:53649757
|
C | T | 1 | a0001c0001t0003g0047 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.46-1447G>A | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 4/83 | chrX | 53649757 | ||||||
| chrX:53649767
|
C | T | 1 | a0001c0001t0001g0071 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.46-1457G>A | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 4/83 | chrX | 53649767 | ||||||
| chrX:53650499
|
T | C | 1 | a0001c0002t0002g0168 | 1 | NA18959.hp1 | intron_variant | MODIFIER | c.46-2189A>G | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 4/83 | chrX | 53650499 | ||||||
| chrX:53650597
|
T | C | 2 | a0001c0001t0003g0045a0001c0001t0003g0059 | 2 | HG02572.hp1 HG03041.hp1 |
intron_variant | MODIFIER | c.46-2287A>G | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 4/83 | chrX | 53650597 | ||||||
| chrX:53650950
|
T | A | 1 | a0001c0001t0003g0031 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.46-2640A>T | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 4/83 | chrX | 53650950 | ||||||
| chrX:53651058
|
A | C | 211 | a0001c0001t0001g0063a0001c0001t0001g0064a0001c0001t0001g0069others(208): Show | 212 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(209): Show |
intron_variant | MODIFIER | c.46-2748T>G | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 4/83 | chrX | 53651058 | ||||||
| chrX:53651418
|
A | AC | 1 | a0001c0001t0003g0043 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.45+2644dupG | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 4/83 | chrX | 53651418 | ||||||
| chrX:53651497
|
C | T | 4 | a0001c0004t0003g0010a0001c0004t0003g0011a0001c0004t0003g0012others(1): Show | 4 | HG02145.hp1 HG02809.hp1 HG03041.hp2 others(1): Show |
intron_variant | MODIFIER | c.45+2566G>A | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 4/83 | chrX | 53651497 | ||||||
| chrX:53651619
|
TC | T | 4 | a0001c0004t0003g0010a0001c0004t0003g0011a0001c0004t0003g0012others(1): Show | 4 | HG02145.hp1 HG02809.hp1 HG03041.hp2 others(1): Show |
intron_variant | MODIFIER | c.45+2443delG | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 4/83 | chrX | 53651619 | ||||||
| chrX:53651675
|
G | A | 1 | a0001c0001t0003g0043 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.45+2388C>T | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 4/83 | chrX | 53651675 | ||||||
| chrX:53652161
|
G | A | 1 | a0001c0002t0002g0166 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.45+1902C>T | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 4/83 | chrX | 53652161 | ||||||
| chrX:53652577
|
T | C | 212 | a0001c0001t0001g0063a0001c0001t0001g0064a0001c0001t0001g0069others(209): Show | 213 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(210): Show |
intron_variant | MODIFIER | c.45+1486A>G | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 4/83 | chrX | 53652577 | ||||||
| chrX:53652688
|
G | A | 1 | a0001c0001t0011g0008 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.45+1375C>T | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 4/83 | chrX | 53652688 | ||||||
| chrX:53652917
|
G | C | 1 | a0001c0002t0002g0142 | 1 | HG03704.hp2 | intron_variant | MODIFIER | c.45+1146C>G | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 4/83 | chrX | 53652917 | ||||||
| chrX:53653265
|
A | G | 1 | a0001c0002t0002g0152 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.45+798T>C | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 4/83 | chrX | 53653265 | ||||||
| chrX:53653339
|
C | T | 1 | a0001c0008t0004g0208 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.45+724G>A | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 4/83 | chrX | 53653339 | ||||||
| chrX:53653557
|
G | A | 1 | a0001c0003t0002g0151 | 1 | HG02129.hp1 | intron_variant | MODIFIER | c.45+506C>T | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 4/83 | chrX | 53653557 | ||||||
| chrX:53653593
|
A | C | 1 | a0001c0001t0001g0098 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.45+470T>G | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 4/83 | chrX | 53653593 | ||||||
| chrX:53653744
|
A | G | 1 | a0001c0001t0003g0031 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.45+319T>C | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 4/83 | chrX | 53653744 | ||||||
| chrX:53654255
|
T | C | 1 | a0001c0001t0001g0110 | 1 | HG03710.hp1 | intron_variant | MODIFIER | c.-24-124A>G | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53654255 | ||||||
| chrX:53654460
|
A | C | 1 | a0001c0001t0001g0106 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.-24-329T>G | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53654460 | ||||||
| chrX:53654484
|
C | T | 212 | a0001c0001t0001g0063a0001c0001t0001g0064a0001c0001t0001g0069others(209): Show | 213 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(210): Show |
intron_variant | MODIFIER | c.-24-353G>A | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53654484 | ||||||
| chrX:53654488
|
GA | G | 1 | a0001c0001t0001g0085 | 1 | HG03239.hp2 | intron_variant | MODIFIER | c.-24-358delT | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53654488 | ||||||
| chrX:53654737
|
G | T | 1 | a0001c0002t0003g0021 | 1 | HG00621.hp1 | intron_variant | MODIFIER | c.-24-606C>A | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53654737 | ||||||
| chrX:53654869
|
T | G | 1 | a0001c0002t0002g0142 | 1 | HG03704.hp2 | intron_variant | MODIFIER | c.-24-738A>C | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53654869 | ||||||
| chrX:53655094
|
G | A | 79 | a0001c0002t0001g0065a0001c0002t0002g0123a0001c0002t0002g0126others(76): Show | 79 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(76): Show |
intron_variant | MODIFIER | c.-24-963C>T | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53655094 | ||||||
| chrX:53655107
|
T | G | 1 | a0001c0002t0003g0025 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.-24-976A>C | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53655107 | ||||||
| chrX:53655388
|
C | G | 79 | a0001c0002t0001g0065a0001c0002t0002g0123a0001c0002t0002g0126others(76): Show | 79 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(76): Show |
intron_variant | MODIFIER | c.-24-1257G>C | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53655388 | ||||||
| chrX:53655430
|
T | C | 1 | a0001c0002t0003g0025 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.-24-1299A>G | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53655430 | ||||||
| chrX:53655505
|
CT | C | 1 | a0001c0002t0003g0018 | 1 | NA18982.hp1 | intron_variant | MODIFIER | c.-24-1375delA | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53655505 | ||||||
| chrX:53655529
|
CA | C | 1 | a0001c0002t0003g0018 | 1 | NA18982.hp1 | intron_variant | MODIFIER | c.-24-1399delT | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53655529 | ||||||
| chrX:53655593
|
G | C | 1 | a0001c0002t0002g0145 | 1 | HG00140.hp1 | intron_variant | MODIFIER | c.-24-1462C>G | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53655593 | ||||||
| chrX:53655788
|
C | T | 1 | a0001c0001t0004g0203 | 1 | HG01106.hp1 | intron_variant | MODIFIER | c.-24-1657G>A | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53655788 | ||||||
| chrX:53655829
|
AG | A | 1 | a0001c0002t0003g0018 | 1 | NA18982.hp1 | intron_variant | MODIFIER | c.-24-1699delC | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53655829 | ||||||
| chrX:53656220
|
A | G | 3 | a0001c0001t0001g0088a0001c0001t0001g0089a0001c0001t0001g0103 | 3 | NA19005.hp1 NA19072.hp1 NA19087.hp1 |
intron_variant | MODIFIER | c.-24-2089T>C | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53656220 | ||||||
| chrX:53656308
|
G | A | 36 | a0001c0001t0002g0177a0001c0001t0002g0178a0001c0001t0002g0179others(33): Show | 36 | HG00323.hp2 HG00735.hp2 HG01081.hp2 others(33): Show |
intron_variant | MODIFIER | c.-24-2177C>T | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53656308 | ||||||
| chrX:53656361
|
C | A | 1 | a0001c0001t0003g0016 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.-24-2230G>T | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53656361 | ||||||
| chrX:53656386
|
A | C | 1 | a0001c0001t0004g0204 | 1 | HG03942.hp1 | intron_variant | MODIFIER | c.-24-2255T>G | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53656386 | ||||||
| chrX:53656404
|
T | G | 1 | a0001c0001t0001g0098 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.-24-2273A>C | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53656404 | ||||||
| chrX:53656542
|
C | CA | 21 | a0001c0001t0001g0063a0001c0001t0001g0064a0001c0001t0001g0070others(18): Show | 21 | HG00733.hp1 HG00735.hp2 HG01106.hp1 others(18): Show |
intron_variant | MODIFIER | c.-24-2412dupT | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53656542 | ||||||
| chrX:53656542
|
C | CAA | 5 | a0001c0001t0001g0115a0001c0001t0003g0046a0001c0004t0003g0010others(2): Show | 5 | HG02809.hp1 HG03041.hp2 HG03516.hp2 others(2): Show |
intron_variant | MODIFIER | c.-24-2413_-24-2412d others(4): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53656542 | ||||||
| chrX:53656542
|
C | CAAA | 1 | a0001c0004t0003g0012 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.-24-2414_-24-2412d others(5): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53656542 | ||||||
| chrX:53656554
|
AAAAAAAA others(1): Show |
A | 1 | a0001c0002t0003g0019 | 1 | NA18946.hp2 | intron_variant | MODIFIER | c.-24-2431_-24-2424d others(10): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53656554 | ||||||
| chrX:53656555
|
AAAAAAAG | A | 72 | a0001c0002t0001g0065a0001c0002t0002g0123a0001c0002t0002g0126others(69): Show | 72 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(69): Show |
intron_variant | MODIFIER | c.-24-2431_-24-2425d others(9): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53656555 | ||||||
| chrX:53656556
|
AAAAAAG | A | 6 | a0001c0002t0002g0168a0001c0002t0002g0175a0001c0002t0002g0182others(3): Show | 6 | HG01109.hp1 HG02080.hp2 HG04228.hp1 others(3): Show |
intron_variant | MODIFIER | c.-24-2431_-24-2426d others(8): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53656556 | ||||||
| chrX:53656561
|
AG | A | 11 | a0001c0001t0001g0086a0001c0001t0001g0088a0001c0001t0002g0177others(8): Show | 11 | HG01081.hp2 HG02258.hp1 HG02559.hp2 others(8): Show |
intron_variant | MODIFIER | c.-24-2431delC | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53656561 | ||||||
| chrX:53656562
|
G | A | 122 | a0001c0001t0001g0063a0001c0001t0001g0064a0001c0001t0001g0069others(119): Show | 123 | HG00099.hp1 HG00323.hp2 HG00438.hp1 others(120): Show |
intron_variant | MODIFIER | c.-24-2431C>T | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53656562 | ||||||
| chrX:53656636
|
AT | A | 1 | a0001c0002t0003g0018 | 1 | NA18982.hp1 | intron_variant | MODIFIER | c.-24-2506delA | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53656636 | ||||||
| chrX:53656711
|
T | C | 36 | a0001c0001t0002g0177a0001c0001t0002g0178a0001c0001t0002g0179others(33): Show | 36 | HG00323.hp2 HG00735.hp2 HG01081.hp2 others(33): Show |
intron_variant | MODIFIER | c.-24-2580A>G | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53656711 | ||||||
| chrX:53656835
|
T | C | 1 | a0001c0008t0004g0208 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.-24-2704A>G | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53656835 | ||||||
| chrX:53656919
|
T | TA | 1 | a0001c0002t0003g0018 | 1 | NA18982.hp1 | intron_variant | MODIFIER | c.-24-2789dupT | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53656919 | ||||||
| chrX:53657381
|
C | T | 1 | a0001c0001t0003g0052 | 1 | HG00323.hp2 | intron_variant | MODIFIER | c.-24-3250G>A | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53657381 | ||||||
| chrX:53657474
|
TGAGATC | T | 1 | a0001c0019t0003g0029 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.-24-3349_-24-3344d others(8): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53657474 | ||||||
| chrX:53657525
|
C | CA | 6 | a0001c0002t0002g0147a0001c0002t0002g0159a0001c0002t0002g0160others(3): Show | 6 | HG01071.hp2 HG01261.hp1 HG01496.hp2 others(3): Show |
intron_variant | MODIFIER | c.-24-3395dupT | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53657525 | ||||||
| chrX:53657778
|
G | A | 2 | a0001c0019t0003g0029a0001c0020t0003g0030 | 2 | HG01884.hp1 HG02559.hp1 |
intron_variant | MODIFIER | c.-24-3647C>T | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53657778 | ||||||
| chrX:53658049
|
C | CAAAAAAA others(2): Show |
2 | a0001c0001t0001g0073a0001c0001t0001g0105 | 2 | HG00609.hp1 NA19086.hp1 |
intron_variant | MODIFIER | c.-24-3927_-24-3919d others(11): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53658049 | ||||||
| chrX:53658049
|
C | CAAAAAAA others(3): Show |
116 | a0001c0001t0001g0063a0001c0001t0001g0064a0001c0001t0001g0069others(113): Show | 117 | HG00323.hp2 HG00438.hp1 HG00544.hp1 others(114): Show |
intron_variant | MODIFIER | c.-24-3928_-24-3919d others(12): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53658049 | ||||||
| chrX:53658049
|
C | CAAAAAAA others(4): Show |
81 | a0001c0001t0001g0075a0001c0001t0001g0100a0001c0001t0001g0101others(78): Show | 81 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(78): Show |
intron_variant | MODIFIER | c.-24-3929_-24-3919d others(13): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53658049 | ||||||
| chrX:53658049
|
C | CAAAAAAA others(5): Show |
11 | a0001c0002t0002g0145a0001c0002t0002g0150a0001c0002t0003g0021others(8): Show | 11 | HG00140.hp1 HG00621.hp1 HG02027.hp1 others(8): Show |
intron_variant | MODIFIER | c.-24-3930_-24-3919d others(14): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53658049 | ||||||
| chrX:53658049
|
C | CAAAAAAA others(7): Show |
1 | a0001c0001t0004g0197 | 1 | NA18966.hp1 | intron_variant | MODIFIER | c.-24-3919_-24-3918i others(16): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53658049 | ||||||
| chrX:53658823
|
G | A | 1 | a0001c0002t0002g0182 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.-24-4692C>T | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53658823 | ||||||
| chrX:53659187
|
A | G | 2 | a0001c0001t0003g0057a0001c0001t0003g0058 | 2 | HG01243.hp1 HG02615.hp2 |
intron_variant | MODIFIER | c.-24-5056T>C | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53659187 | ||||||
| chrX:53659200
|
T | C | 6 | a0001c0002t0002g0147a0001c0002t0002g0159a0001c0002t0002g0160others(3): Show | 6 | HG01071.hp2 HG01261.hp1 HG01496.hp2 others(3): Show |
intron_variant | MODIFIER | c.-24-5069A>G | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53659200 | ||||||
| chrX:53659375
|
G | C | 1 | a0001c0003t0002g0162 | 1 | HG02080.hp2 | intron_variant | MODIFIER | c.-24-5244C>G | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53659375 | ||||||
| chrX:53659421
|
G | GT | 2 | a0001c0019t0003g0029a0001c0020t0003g0030 | 2 | HG01884.hp1 HG02559.hp1 |
intron_variant | MODIFIER | c.-24-5291dupA | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53659421 | ||||||
| chrX:53659559
|
G | C | 1 | a0001c0002t0003g0025 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.-24-5428C>G | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53659559 | ||||||
| chrX:53659566
|
G | A | 1 | a0001c0002t0003g0023 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.-24-5435C>T | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53659566 | ||||||
| chrX:53659580
|
G | A | 77 | a0001c0002t0001g0065a0001c0002t0002g0123a0001c0002t0002g0126others(74): Show | 77 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(74): Show |
intron_variant | MODIFIER | c.-24-5449C>T | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53659580 | ||||||
| chrX:53659756
|
T | C | 35 | a0001c0001t0002g0177a0001c0001t0002g0178a0001c0001t0002g0179others(32): Show | 35 | HG00323.hp2 HG00735.hp2 HG01081.hp2 others(32): Show |
intron_variant | MODIFIER | c.-24-5625A>G | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53659756 | ||||||
| chrX:53659902
|
A | T | 1 | a0001c0001t0001g0106 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.-24-5771T>A | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53659902 | ||||||
| chrX:53660168
|
G | A | 1 | a0001c0001t0003g0026 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.-24-6037C>T | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53660168 | ||||||
| chrX:53660394
|
A | G | 38 | a0001c0001t0002g0177a0001c0001t0002g0178a0001c0001t0002g0179others(35): Show | 38 | HG00323.hp2 HG00735.hp2 HG00738.hp1 others(35): Show |
intron_variant | MODIFIER | c.-24-6263T>C | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53660394 | ||||||
| chrX:53660509
|
T | C | 2 | a0001c0006t0002g0148a0001c0009t0001g0077 | 2 | HG00558.hp2 HG03139.hp1 |
intron_variant | MODIFIER | c.-24-6378A>G | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53660509 | ||||||
| chrX:53660548
|
A | AG | 1 | a0001c0001t0004g0207 | 1 | NA19067.hp1 | intron_variant | MODIFIER | c.-24-6418dupC | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53660548 | ||||||
| chrX:53660769
|
A | G | 212 | a0001c0001t0001g0063a0001c0001t0001g0064a0001c0001t0001g0069others(209): Show | 213 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(210): Show |
intron_variant | MODIFIER | c.-24-6638T>C | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53660769 | ||||||
| chrX:53660890
|
CTCAAG | C | 78 | a0001c0002t0001g0065a0001c0002t0002g0123a0001c0002t0002g0126others(75): Show | 78 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(75): Show |
intron_variant | MODIFIER | c.-24-6764_-24-6760d others(7): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53660890 | ||||||
| chrX:53661034
|
C | CT | 12 | a0001c0001t0001g0081a0001c0001t0001g0087a0001c0001t0004g0205others(9): Show | 12 | HG00597.hp2 HG02071.hp1 HG02135.hp1 others(9): Show |
intron_variant | MODIFIER | c.-24-6904dupA | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53661034 | ||||||
| chrX:53661034
|
CT | C | 10 | a0001c0001t0001g0103a0001c0001t0003g0043a0001c0001t0004g0188others(7): Show | 10 | HG01884.hp1 HG02145.hp1 HG02559.hp1 others(7): Show |
intron_variant | MODIFIER | c.-24-6904delA | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53661034 | ||||||
| chrX:53661338
|
C | T | 1 | a0001c0001t0001g0086 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.-24-7207G>A | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53661338 | ||||||
| chrX:53661367
|
A | T | 1 | a0001c0001t0001g0086 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.-24-7236T>A | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53661367 | ||||||
| chrX:53661572
|
A | T | 1 | a0001c0001t0002g0178 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.-24-7441T>A | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53661572 | ||||||
| chrX:53661664
|
C | T | 1 | a0001c0020t0003g0030 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.-24-7533G>A | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53661664 | ||||||
| chrX:53661739
|
C | A | 3 | a0001c0001t0003g0031a0001c0001t0003g0032a0001c0001t0003g0044 | 3 | HG02622.hp2 HG02895.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.-24-7608G>T | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53661739 | ||||||
| chrX:53661742
|
G | A | 3 | a0001c0001t0003g0031a0001c0001t0003g0032a0001c0001t0003g0044 | 3 | HG02622.hp2 HG02895.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.-24-7611C>T | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53661742 | ||||||
| chrX:53661862
|
G | GT | 1 | a0005c0012t0016g0181 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.-24-7732dupA | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53661862 | ||||||
| chrX:53662509
|
A | AT | 1 | a0001c0001t0001g0115 | 1 | NA18949.hp2 | intron_variant | MODIFIER | c.-24-8379dupA | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53662509 | ||||||
| chrX:53662629
|
T | C | 1 | a0001c0001t0011g0008 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.-24-8498A>G | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53662629 | ||||||
| chrX:53662896
|
TG | T | 1 | a0001c0001t0001g0115 | 1 | NA18949.hp2 | intron_variant | MODIFIER | c.-24-8766delC | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53662896 | ||||||
| chrX:53662898
|
G | T | 1 | a0001c0001t0004g0190 | 1 | HG01978.hp1 | intron_variant | MODIFIER | c.-24-8767C>A | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53662898 | ||||||
| chrX:53663038
|
G | A | 81 | a0001c0001t0002g0149a0001c0001t0002g0172a0001c0002t0001g0065others(78): Show | 81 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(78): Show |
intron_variant | MODIFIER | c.-24-8907C>T | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53663038 | ||||||
| chrX:53663077
|
A | G | 1 | a0001c0001t0001g0085 | 1 | HG03239.hp2 | intron_variant | MODIFIER | c.-24-8946T>C | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53663077 | ||||||
| chrX:53663134
|
TG | T | 1 | a0001c0001t0001g0115 | 1 | NA18949.hp2 | intron_variant | MODIFIER | c.-24-9004delC | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53663134 | ||||||
| chrX:53663395
|
C | G | 1 | a0001c0001t0003g0016 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.-24-9264G>C | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53663395 | ||||||
| chrX:53663650
|
C | A | 1 | a0001c0019t0003g0029 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.-24-9519G>T | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53663650 | ||||||
| chrX:53663672
|
TG | T | 1 | a0001c0001t0001g0115 | 1 | NA18949.hp2 | intron_variant | MODIFIER | c.-24-9542delC | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53663672 | ||||||
| chrX:53663851
|
GA | G | 1 | a0001c0001t0001g0115 | 1 | NA18949.hp2 | intron_variant | MODIFIER | c.-24-9721delT | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53663851 | ||||||
| chrX:53663873
|
GA | G | 1 | a0001c0001t0001g0115 | 1 | NA18949.hp2 | intron_variant | MODIFIER | c.-24-9743delT | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53663873 | ||||||
| chrX:53663879
|
T | TA | 5 | a0001c0002t0003g0009a0001c0002t0003g0022a0001c0002t0003g0023others(2): Show | 5 | HG02622.hp1 NA18952.hp1 NA19055.hp1 others(2): Show |
intron_variant | MODIFIER | c.-24-9749dupT | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53663879 | ||||||
| chrX:53663879
|
TA | T | 6 | a0001c0001t0001g0078a0001c0001t0003g0033a0001c0001t0003g0039others(3): Show | 6 | HG00323.hp2 HG01069.hp1 HG01167.hp1 others(3): Show |
intron_variant | MODIFIER | c.-24-9749delT | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53663879 | ||||||
| chrX:53664263
|
G | A | 1 | a0001c0001t0003g0026 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.-24-10132C>T | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53664263 | ||||||
| chrX:53664372
|
GA | G | 1 | a0001c0001t0001g0115 | 1 | NA18949.hp2 | intron_variant | MODIFIER | c.-24-10242delT | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53664372 | ||||||
| chrX:53664475
|
CA | C | 1 | a0001c0001t0001g0115 | 1 | NA18949.hp2 | intron_variant | MODIFIER | c.-24-10345delT | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53664475 | ||||||
| chrX:53664572
|
CA | C | 1 | a0001c0001t0001g0115 | 1 | NA18949.hp2 | intron_variant | MODIFIER | c.-24-10442delT | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53664572 | ||||||
| chrX:53664687
|
TTGCCTTG others(3): Show |
T | 1 | a0001c0001t0001g0115 | 1 | NA18949.hp2 | intron_variant | MODIFIER | c.-24-10566_-24-1055 others(14): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53664687 | ||||||
| chrX:53665325
|
A | G | 1 | a0001c0001t0001g0105 | 1 | NA19086.hp1 | intron_variant | MODIFIER | c.-24-11194T>C | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53665325 | ||||||
| chrX:53665471
|
A | C | 1 | a0001c0002t0002g0150 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.-24-11340T>G | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53665471 | ||||||
| chrX:53665891
|
GAAGCCTG others(12): Show |
G | 1 | a0001c0001t0004g0198 | 1 | HG00597.hp1 | intron_variant | MODIFIER | c.-24-11779_-24-1176 others(23): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53665891 | ||||||
| chrX:53665945
|
G | A | 3 | a0001c0001t0001g0078a0001c0001t0001g0079a0001c0001t0001g0080 | 3 | NA18944.hp1 NA18948.hp1 NA19091.hp1 |
intron_variant | MODIFIER | c.-24-11814C>T | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53665945 | ||||||
| chrX:53665960
|
G | GC | 1 | a0001c0001t0001g0115 | 1 | NA18949.hp2 | intron_variant | MODIFIER | c.-24-11830dupG | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53665960 | ||||||
| chrX:53665985
|
G | A | 26 | a0001c0001t0002g0177a0001c0001t0002g0178a0001c0001t0002g0179others(23): Show | 26 | HG00735.hp2 HG01081.hp2 HG01167.hp1 others(23): Show |
intron_variant | MODIFIER | c.-24-11854C>T | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53665985 | ||||||
| chrX:53666342
|
T | TA | 1 | a0001c0001t0001g0115 | 1 | NA18949.hp2 | intron_variant | MODIFIER | c.-24-12212dupT | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53666342 | ||||||
| chrX:53666349
|
AAT | A | 1 | a0001c0002t0002g0166 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.-24-12220_-24-1221 others(6): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53666349 | ||||||
| chrX:53666364
|
C | CG | 1 | a0001c0001t0001g0115 | 1 | NA18949.hp2 | intron_variant | MODIFIER | c.-24-12234dupC | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53666364 | ||||||
| chrX:53666370
|
A | C | 1 | a0001c0001t0001g0084 | 1 | NA18962.hp1 | intron_variant | MODIFIER | c.-24-12239T>G | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53666370 | ||||||
| chrX:53666430
|
G | A | 1 | a0001c0001t0003g0058 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.-24-12299C>T | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53666430 | ||||||
| chrX:53666508
|
T | TC | 1 | a0001c0001t0001g0115 | 1 | NA18949.hp2 | intron_variant | MODIFIER | c.-24-12378dupG | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53666508 | ||||||
| chrX:53666590
|
C | CA | 1 | a0001c0001t0001g0115 | 1 | NA18949.hp2 | intron_variant | MODIFIER | c.-24-12460dupT | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53666590 | ||||||
| chrX:53666946
|
G | GA | 1 | a0001c0001t0001g0115 | 1 | NA18949.hp2 | intron_variant | MODIFIER | c.-24-12816dupT | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53666946 | ||||||
| chrX:53667069
|
A | G | 1 | a0001c0001t0001g0115 | 1 | NA18949.hp2 | intron_variant | MODIFIER | c.-24-12938T>C | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53667069 | ||||||
| chrX:53667098
|
G | A | 1 | a0001c0001t0001g0104 | 1 | NA19079.hp1 | intron_variant | MODIFIER | c.-25+12951C>T | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53667098 | ||||||
| chrX:53667113
|
A | AG | 1 | a0001c0001t0001g0115 | 1 | NA18949.hp2 | intron_variant | MODIFIER | c.-25+12935dupC | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53667113 | ||||||
| chrX:53667176
|
C | CA | 1 | a0001c0001t0001g0115 | 1 | NA18949.hp2 | intron_variant | MODIFIER | c.-25+12872dupT | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53667176 | ||||||
| chrX:53667236
|
C | CT | 1 | a0001c0001t0001g0115 | 1 | NA18949.hp2 | intron_variant | MODIFIER | c.-25+12812dupA | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53667236 | ||||||
| chrX:53667416
|
T | C | 1 | a0001c0002t0002g0128 | 1 | HG00642.hp1 | intron_variant | MODIFIER | c.-25+12633A>G | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53667416 | ||||||
| chrX:53667493
|
A | G | 1 | a0001c0020t0003g0030 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.-25+12556T>C | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53667493 | ||||||
| chrX:53667498
|
G | A | 1 | a0001c0001t0003g0049 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.-25+12551C>T | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53667498 | ||||||
| chrX:53667502
|
TATA | T | 4 | a0001c0004t0003g0010a0001c0004t0003g0011a0001c0004t0003g0012others(1): Show | 4 | HG02145.hp1 HG02809.hp1 HG03041.hp2 others(1): Show |
intron_variant | MODIFIER | c.-25+12544_-25+1254 others(7): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53667502 | ||||||
| chrX:53667603
|
C | T | 1 | a0001c0005t0008g0027 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.-25+12446G>A | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53667603 | ||||||
| chrX:53667652
|
A | T | 2 | a0001c0001t0003g0016a0001c0001t0003g0017 | 2 | HG00738.hp1 NA18522.hp1 |
intron_variant | MODIFIER | c.-25+12397T>A | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53667652 | ||||||
| chrX:53667991
|
A | G | 1 | a0001c0002t0002g0128 | 1 | HG00642.hp1 | intron_variant | MODIFIER | c.-25+12058T>C | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53667991 | ||||||
| chrX:53667996
|
A | AT | 1 | a0001c0001t0001g0115 | 1 | NA18949.hp2 | intron_variant | MODIFIER | c.-25+12052dupA | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53667996 | ||||||
| chrX:53668171
|
C | T | 1 | a0001c0008t0004g0208 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.-25+11878G>A | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53668171 | ||||||
| chrX:53668441
|
C | CA | 7 | a0001c0001t0003g0045a0001c0001t0003g0059a0001c0001t0004g0187others(4): Show | 7 | HG02135.hp1 HG02559.hp1 HG02572.hp1 others(4): Show |
intron_variant | MODIFIER | c.-25+11607dupT | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53668441 | ||||||
| chrX:53668461
|
T | C | 2 | a0001c0001t0011g0008a0001c0019t0003g0029 | 2 | HG02559.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.-25+11588A>G | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53668461 | ||||||
| chrX:53668478
|
C | T | 4 | a0001c0004t0003g0010a0001c0004t0003g0011a0001c0004t0003g0012others(1): Show | 4 | HG02145.hp1 HG02809.hp1 HG03041.hp2 others(1): Show |
intron_variant | MODIFIER | c.-25+11571G>A | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53668478 | ||||||
| chrX:53668601
|
C | G | 4 | a0001c0004t0003g0010a0001c0004t0003g0011a0001c0004t0003g0012others(1): Show | 4 | HG02145.hp1 HG02809.hp1 HG03041.hp2 others(1): Show |
intron_variant | MODIFIER | c.-25+11448G>C | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53668601 | ||||||
| chrX:53668646
|
G | C | 1 | a0001c0020t0003g0030 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.-25+11403C>G | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53668646 | ||||||
| chrX:53668785
|
T | C | 1 | a0001c0002t0002g0123 | 1 | NA18942.hp1 | intron_variant | MODIFIER | c.-25+11264A>G | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53668785 | ||||||
| chrX:53669053
|
C | CA | 1 | a0001c0020t0003g0030 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.-25+10995dupT | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53669053 | ||||||
| chrX:53669932
|
TA | T | 1 | a0001c0002t0003g0009 | 1 | NA19055.hp1 | intron_variant | MODIFIER | c.-25+10116delT | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53669932 | ||||||
| chrX:53669947
|
T | A | 1 | a0001c0003t0002g0125 | 1 | HG00544.hp2 | intron_variant | MODIFIER | c.-25+10102A>T | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53669947 | ||||||
| chrX:53669959
|
A | C | 1 | a0001c0001t0001g0069 | 1 | HG00544.hp1 | intron_variant | MODIFIER | c.-25+10090T>G | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53669959 | ||||||
| chrX:53669992
|
G | C | 3 | a0001c0001t0006g0003a0001c0001t0006g0004a0001c0001t0010g0002 | 3 | HG02602.hp1 HG02735.hp1 HG04184.hp2 |
intron_variant | MODIFIER | c.-25+10057C>G | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53669992 | ||||||
| chrX:53670110
|
T | C | 1 | a0001c0002t0003g0025 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.-25+9939A>G | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53670110 | ||||||
| chrX:53670231
|
T | C | 2 | a0001c0019t0003g0029a0001c0020t0003g0030 | 2 | HG01884.hp1 HG02559.hp1 |
intron_variant | MODIFIER | c.-25+9818A>G | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53670231 | ||||||
| chrX:53670329
|
GGA | G | 1 | a0004c0010t0003g0061 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.-25+9718_-25+9719d others(4): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53670329 | ||||||
| chrX:53670333
|
A | C | 1 | a0001c0004t0003g0012 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.-25+9716T>G | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53670333 | ||||||
| chrX:53670447
|
T | C | 1 | a0001c0001t0002g0149 | 1 | HG00558.hp1 | intron_variant | MODIFIER | c.-25+9602A>G | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53670447 | ||||||
| chrX:53670770
|
GAA | G | 1 | a0001c0001t0015g0062 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.-25+9277_-25+9278d others(4): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53670770 | ||||||
| chrX:53670832
|
G | C | 1 | a0001c0019t0003g0029 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.-25+9217C>G | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53670832 | ||||||
| chrX:53670974
|
A | T | 1 | a0001c0001t0004g0207 | 1 | NA19067.hp1 | intron_variant | MODIFIER | c.-25+9075T>A | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53670974 | ||||||
| chrX:53670977
|
A | G | 4 | a0001c0004t0003g0010a0001c0004t0003g0011a0001c0004t0003g0012others(1): Show | 4 | HG02145.hp1 HG02809.hp1 HG03041.hp2 others(1): Show |
intron_variant | MODIFIER | c.-25+9072T>C | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53670977 | ||||||
| chrX:53671142
|
A | AG | 1 | a0001c0001t0004g0207 | 1 | NA19067.hp1 | intron_variant | MODIFIER | c.-25+8906dupC | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53671142 | ||||||
| chrX:53671573
|
G | A | 1 | a0001c0001t0006g0007 | 1 | HG03688.hp1 | intron_variant | MODIFIER | c.-25+8476C>T | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53671573 | ||||||
| chrX:53671699
|
A | AG | 1 | a0001c0001t0004g0207 | 1 | NA19067.hp1 | intron_variant | MODIFIER | c.-25+8349dupC | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53671699 | ||||||
| chrX:53671718
|
C | CG | 2 | a0001c0001t0003g0045a0001c0001t0003g0059 | 2 | HG02572.hp1 HG03041.hp1 |
intron_variant | MODIFIER | c.-25+8330dupC | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53671718 | ||||||
| chrX:53671763
|
C | T | 1 | a0006c0018t0002g0171 | 1 | HG03831.hp1 | intron_variant | MODIFIER | c.-25+8286G>A | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53671763 | ||||||
| chrX:53671791
|
C | CA | 88 | a0001c0001t0001g0063a0001c0001t0001g0064a0001c0001t0001g0069others(85): Show | 89 | HG00099.hp1 HG00280.hp1 HG00438.hp1 others(86): Show |
intron_variant | MODIFIER | c.-25+8257dupT | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53671791 | ||||||
| chrX:53671791
|
C | CAA | 24 | a0001c0001t0001g0073a0001c0001t0001g0075a0001c0001t0001g0081others(21): Show | 24 | HG00609.hp1 HG00741.hp1 HG01192.hp1 others(21): Show |
intron_variant | MODIFIER | c.-25+8256_-25+8257d others(4): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53671791 | ||||||
| chrX:53671791
|
C | CAAA | 1 | a0001c0001t0004g0207 | 1 | NA19067.hp1 | intron_variant | MODIFIER | c.-25+8255_-25+8257d others(5): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53671791 | ||||||
| chrX:53671791
|
CA | C | 17 | a0001c0001t0003g0031a0001c0001t0003g0035a0001c0001t0003g0036others(14): Show | 17 | HG00323.hp2 HG00735.hp2 HG01169.hp2 others(14): Show |
intron_variant | MODIFIER | c.-25+8257delT | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53671791 | ||||||
| chrX:53671791
|
CAA | C | 19 | a0001c0001t0003g0032a0001c0001t0003g0033a0001c0001t0003g0039others(16): Show | 19 | HG01167.hp1 HG01255.hp1 HG01884.hp1 others(16): Show |
intron_variant | MODIFIER | c.-25+8256_-25+8257d others(4): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53671791 | ||||||
| chrX:53671791
|
CAAA | C | 6 | a0001c0001t0002g0177a0001c0001t0002g0178a0001c0001t0002g0179others(3): Show | 6 | HG01081.hp2 HG03098.hp1 HG03471.hp1 others(3): Show |
intron_variant | MODIFIER | c.-25+8255_-25+8257d others(5): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53671791 | ||||||
| chrX:53671791
|
CAAAAAAA others(2): Show |
C | 1 | a0001c0002t0003g0009 | 1 | NA19055.hp1 | intron_variant | MODIFIER | c.-25+8249_-25+8257d others(11): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53671791 | ||||||
| chrX:53672056
|
T | A | 1 | a0001c0008t0004g0208 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.-25+7993A>T | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53672056 | ||||||
| chrX:53672086
|
T | TG | 1 | a0001c0001t0004g0207 | 1 | NA19067.hp1 | intron_variant | MODIFIER | c.-25+7962dupC | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53672086 | ||||||
| chrX:53672264
|
C | CT | 7 | a0001c0001t0001g0078a0001c0001t0001g0079a0001c0001t0001g0080others(4): Show | 7 | HG02559.hp1 HG03139.hp1 NA18944.hp1 others(4): Show |
intron_variant | MODIFIER | c.-25+7784dupA | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53672264 | ||||||
| chrX:53672264
|
C | CTT | 1 | a0001c0001t0003g0036 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.-25+7783_-25+7784d others(4): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53672264 | ||||||
| chrX:53672264
|
CT | C | 2 | a0001c0001t0001g0071a0001c0002t0002g0165 | 2 | HG03491.hp1 HG03491.hp2 |
intron_variant | MODIFIER | c.-25+7784delA | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53672264 | ||||||
| chrX:53672264
|
CTTTT | C | 1 | a0001c0002t0002g0166 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.-25+7781_-25+7784d others(6): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53672264 | ||||||
| chrX:53672867
|
T | C | 1 | a0001c0002t0003g0025 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.-25+7182A>G | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53672867 | ||||||
| chrX:53673073
|
T | C | 1 | a0001c0002t0002g0166 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.-25+6976A>G | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53673073 | ||||||
| chrX:53673152
|
GCCA | G | 18 | a0001c0001t0001g0074a0001c0001t0004g0001a0001c0001t0004g0186others(15): Show | 19 | HG00438.hp1 HG00597.hp1 HG01978.hp1 others(16): Show |
intron_variant | MODIFIER | c.-25+6894_-25+6896d others(5): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53673152 | ||||||
| chrX:53673192
|
T | G | 2 | a0001c0001t0001g0113a0001c0001t0001g0114 | 2 | HG00741.hp1 HG01433.hp1 |
intron_variant | MODIFIER | c.-25+6857A>C | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53673192 | ||||||
| chrX:53673262
|
G | A | 2 | a0001c0001t0003g0050a0001c0001t0003g0051 | 2 | HG02258.hp1 HG02559.hp2 |
intron_variant | MODIFIER | c.-25+6787C>T | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53673262 | ||||||
| chrX:53673884
|
C | T | 212 | a0001c0001t0001g0063a0001c0001t0001g0064a0001c0001t0001g0069others(209): Show | 213 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(210): Show |
intron_variant | MODIFIER | c.-25+6165G>A | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53673884 | ||||||
| chrX:53673904
|
A | AG | 1 | a0001c0002t0003g0009 | 1 | NA19055.hp1 | intron_variant | MODIFIER | c.-25+6144dupC | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53673904 | ||||||
| chrX:53673922
|
G | GT | 1 | a0001c0002t0003g0009 | 1 | NA19055.hp1 | intron_variant | MODIFIER | c.-25+6126dupA | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53673922 | ||||||
| chrX:53673948
|
ACATAG | A | 2 | a0001c0004t0003g0012a0001c0004t0003g0013 | 2 | HG02145.hp1 HG03041.hp2 |
intron_variant | MODIFIER | c.-25+6096_-25+6100d others(7): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53673948 | ||||||
| chrX:53674148
|
G | GT | 1 | a0001c0002t0003g0009 | 1 | NA19055.hp1 | intron_variant | MODIFIER | c.-25+5900dupA | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53674148 | ||||||
| chrX:53675037
|
A | G | 4 | a0001c0004t0003g0010a0001c0004t0003g0011a0001c0004t0003g0012others(1): Show | 4 | HG02145.hp1 HG02809.hp1 HG03041.hp2 others(1): Show |
intron_variant | MODIFIER | c.-25+5012T>C | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53675037 | ||||||
| chrX:53675115
|
A | T | 1 | a0001c0001t0003g0036 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.-25+4934T>A | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53675115 | ||||||
| chrX:53675252
|
G | C | 1 | a0001c0002t0002g0167 | 1 | HG02004.hp2 | intron_variant | MODIFIER | c.-25+4797C>G | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53675252 | ||||||
| chrX:53675297
|
A | G | 3 | a0001c0001t0011g0008a0001c0019t0003g0029a0001c0020t0003g0030 | 3 | HG01884.hp1 HG02559.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.-25+4752T>C | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53675297 | ||||||
| chrX:53675710
|
A | T | 211 | a0001c0001t0001g0063a0001c0001t0001g0064a0001c0001t0001g0069others(208): Show | 212 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(209): Show |
intron_variant | MODIFIER | c.-25+4339T>A | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53675710 | ||||||
| chrX:53675715
|
T | C | 1 | a0001c0002t0002g0168 | 1 | NA18959.hp1 | intron_variant | MODIFIER | c.-25+4334A>G | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53675715 | ||||||
| chrX:53675922
|
G | A | 1 | a0001c0001t0003g0026 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.-25+4127C>T | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53675922 | ||||||
| chrX:53675995
|
A | G | 1 | a0001c0001t0001g0076 | 1 | NA18989.hp1 | intron_variant | MODIFIER | c.-25+4054T>C | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53675995 | ||||||
| chrX:53676176
|
G | A | 1 | a0003c0016t0002g0119 | 1 | NA19083.hp1 | intron_variant | MODIFIER | c.-25+3873C>T | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53676176 | ||||||
| chrX:53676286
|
TCC | T | 211 | a0001c0001t0001g0063a0001c0001t0001g0064a0001c0001t0001g0069others(208): Show | 212 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(209): Show |
intron_variant | MODIFIER | c.-25+3761_-25+3762d others(4): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53676286 | ||||||
| chrX:53676316
|
C | CT | 1 | a0001c0002t0002g0176 | 1 | HG02698.hp1 | intron_variant | MODIFIER | c.-25+3732dupA | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53676316 | ||||||
| chrX:53676460
|
G | GC | 1 | a0001c0002t0003g0009 | 1 | NA19055.hp1 | intron_variant | MODIFIER | c.-25+3588dupG | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53676460 | ||||||
| chrX:53676514
|
T | TA | 1 | a0001c0002t0003g0009 | 1 | NA19055.hp1 | intron_variant | MODIFIER | c.-25+3534dupT | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53676514 | ||||||
| chrX:53676573
|
A | G | 3 | a0001c0001t0011g0008a0001c0019t0003g0029a0001c0020t0003g0030 | 3 | HG01884.hp1 HG02559.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.-25+3476T>C | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53676573 | ||||||
| chrX:53676855
|
CT | C | 1 | a0001c0002t0003g0009 | 1 | NA19055.hp1 | intron_variant | MODIFIER | c.-25+3193delA | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53676855 | ||||||
| chrX:53676871
|
TA | T | 1 | a0001c0002t0002g0176 | 1 | HG02698.hp1 | intron_variant | MODIFIER | c.-25+3177delT | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53676871 | ||||||
| chrX:53676939
|
A | AG | 1 | a0001c0002t0003g0009 | 1 | NA19055.hp1 | intron_variant | MODIFIER | c.-25+3109dupC | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53676939 | ||||||
| chrX:53677077
|
A | AC | 3 | a0001c0001t0001g0074a0001c0001t0001g0075a0003c0016t0002g0119 | 3 | HG00438.hp1 NA19000.hp1 NA19083.hp1 |
intron_variant | MODIFIER | c.-25+2971dupG | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53677077 | ||||||
| chrX:53677085
|
AC | A | 1 | a0001c0002t0003g0009 | 1 | NA19055.hp1 | intron_variant | MODIFIER | c.-25+2963delG | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53677085 | ||||||
| chrX:53677272
|
T | C | 1 | a0001c0001t0004g0205 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.-25+2777A>G | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53677272 | ||||||
| chrX:53677322
|
G | GT | 1 | a0001c0002t0003g0009 | 1 | NA19055.hp1 | intron_variant | MODIFIER | c.-25+2726dupA | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53677322 | ||||||
| chrX:53677375
|
A | AG | 1 | a0001c0002t0003g0009 | 1 | NA19055.hp1 | intron_variant | MODIFIER | c.-25+2673dupC | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53677375 | ||||||
| chrX:53677391
|
C | T | 6 | a0001c0001t0003g0035a0001c0001t0003g0052a0001c0001t0003g0057others(3): Show | 6 | HG00323.hp2 HG01243.hp1 HG02083.hp1 others(3): Show |
intron_variant | MODIFIER | c.-25+2658G>A | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53677391 | ||||||
| chrX:53677516
|
C | CT | 1 | a0001c0002t0003g0009 | 1 | NA19055.hp1 | intron_variant | MODIFIER | c.-25+2532dupA | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53677516 | ||||||
| chrX:53677548
|
G | T | 1 | a0001c0001t0003g0053 | 1 | HG00735.hp2 | intron_variant | MODIFIER | c.-25+2501C>A | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53677548 | ||||||
| chrX:53677595
|
T | TA | 7 | a0001c0001t0001g0064a0001c0001t0001g0069a0001c0001t0001g0115others(4): Show | 7 | HG00544.hp1 HG02738.hp1 HG03831.hp1 others(4): Show |
intron_variant | MODIFIER | c.-25+2453dupT | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53677595 | ||||||
| chrX:53677595
|
T | TAA | 1 | a0001c0002t0003g0009 | 1 | NA19055.hp1 | intron_variant | MODIFIER | c.-25+2452_-25+2453d others(4): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53677595 | ||||||
| chrX:53677595
|
TA | T | 4 | a0001c0001t0003g0033a0001c0001t0004g0189a0001c0002t0001g0065others(1): Show | 4 | HG01167.hp1 HG01256.hp1 HG02622.hp1 others(1): Show |
intron_variant | MODIFIER | c.-25+2453delT | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53677595 | ||||||
| chrX:53677688
|
AC | A | 1 | a0001c0002t0003g0009 | 1 | NA19055.hp1 | intron_variant | MODIFIER | c.-25+2360delG | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53677688 | ||||||
| chrX:53677758
|
T | TG | 1 | a0001c0002t0003g0009 | 1 | NA19055.hp1 | intron_variant | MODIFIER | c.-25+2290dupC | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53677758 | ||||||
| chrX:53677883
|
A | AG | 1 | a0001c0002t0003g0009 | 1 | NA19055.hp1 | intron_variant | MODIFIER | c.-25+2165_-25+2166i others(3): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53677883 | ||||||
| chrX:53678128
|
TG | T | 1 | a0001c0002t0003g0009 | 1 | NA19055.hp1 | intron_variant | MODIFIER | c.-25+1920delC | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53678128 | ||||||
| chrX:53678328
|
TAAC | T | 1 | a0001c0001t0001g0073 | 1 | HG00609.hp1 | intron_variant | MODIFIER | c.-25+1718_-25+1720d others(5): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53678328 | ||||||
| chrX:53678333
|
A | C | 1 | a0001c0001t0004g0190 | 1 | HG01978.hp1 | intron_variant | MODIFIER | c.-25+1716T>G | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53678333 | ||||||
| chrX:53678362
|
AAAGTT | A | 1 | a0001c0019t0003g0029 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.-25+1682_-25+1686d others(7): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53678362 | ||||||
| chrX:53678542
|
T | C | 2 | a0001c0001t0002g0172a0001c0003t0002g0173 | 2 | NA18993.hp1 NA19084.hp1 |
intron_variant | MODIFIER | c.-25+1507A>G | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53678542 | ||||||
| chrX:53678942
|
T | G | 1 | a0001c0002t0005g0180 | 1 | HG01981.hp1 | intron_variant | MODIFIER | c.-25+1107A>C | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53678942 | ||||||
| chrX:53678983
|
T | C | 1 | a0001c0001t0003g0052 | 1 | HG00323.hp2 | intron_variant | MODIFIER | c.-25+1066A>G | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53678983 | ||||||
| chrX:53679111
|
TC | T | 1 | a0003c0016t0002g0119 | 1 | NA19083.hp1 | intron_variant | MODIFIER | c.-25+937delG | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53679111 | ||||||
| chrX:53679173
|
G | GA | 1 | a0001c0001t0004g0207 | 1 | NA19067.hp1 | intron_variant | MODIFIER | c.-25+875dupT | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53679173 | ||||||
| chrX:53679174
|
A | G | 1 | a0001c0020t0003g0030 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.-25+875T>C | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53679174 | ||||||
| chrX:53679300
|
TA | T | 4 | a0001c0002t0001g0065a0001c0002t0002g0126a0001c0002t0002g0127others(1): Show | 4 | HG00323.hp1 HG00741.hp2 HG01099.hp1 others(1): Show |
intron_variant | MODIFIER | c.-25+748delT | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53679300 | ||||||
| chrX:53679448
|
AG | A | 1 | a0003c0016t0002g0119 | 1 | NA19083.hp1 | intron_variant | MODIFIER | c.-25+600delC | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53679448 | ||||||
| chrX:53679536
|
TC | T | 1 | a0003c0016t0002g0119 | 1 | NA19083.hp1 | intron_variant | MODIFIER | c.-25+512delG | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53679536 | ||||||
| chrX:53679638
|
A | T | 1 | a0001c0001t0001g0072 | 1 | NA20752.hp1 | intron_variant | MODIFIER | c.-25+411T>A | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53679638 | ||||||
| chrX:53679756
|
T | A | 1 | a0001c0020t0003g0030 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.-25+293A>T | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53679756 | ||||||
| chrX:53679806
|
A | AT | 1 | a0003c0016t0002g0119 | 1 | NA19083.hp1 | intron_variant | MODIFIER | c.-25+242dupA | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53679806 | ||||||
| chrX:53680190
|
C | CA | 1 | a0001c0001t0011g0008 | 1 | NA19030.hp1 | splice_region_variant&intron_variant | LOW | c.-162-5dupT | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 2/83 | chrX | 53680190 | ||||||
| chrX:53680440
|
T | C | 1 | a0001c0008t0004g0208 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.-162-254A>G | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 2/83 | chrX | 53680440 | ||||||
| chrX:53680628
|
G | A | 1 | a0001c0001t0011g0008 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.-162-442C>T | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 2/83 | chrX | 53680628 | ||||||
| chrX:53680832
|
C | CA | 1 | a0001c0001t0004g0207 | 1 | NA19067.hp1 | intron_variant | MODIFIER | c.-162-647dupT | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 2/83 | chrX | 53680832 | ||||||
| chrX:53680833
|
A | G | 1 | a0001c0019t0003g0029 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.-162-647T>C | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 2/83 | chrX | 53680833 | ||||||
| chrX:53680924
|
GTTTATTT others(1): Show |
G | 211 | a0001c0001t0001g0063a0001c0001t0001g0064a0001c0001t0001g0069others(208): Show | 212 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(209): Show |
intron_variant | MODIFIER | c.-162-746_-162-739d others(10): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 2/83 | chrX | 53680924 | ||||||
| chrX:53680933
|
G | A | 211 | a0001c0001t0001g0063a0001c0001t0001g0064a0001c0001t0001g0069others(208): Show | 212 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(209): Show |
intron_variant | MODIFIER | c.-162-747C>T | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 2/83 | chrX | 53680933 | ||||||
| chrX:53680934
|
A | C | 211 | a0001c0001t0001g0063a0001c0001t0001g0064a0001c0001t0001g0069others(208): Show | 212 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(209): Show |
intron_variant | MODIFIER | c.-162-748T>G | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 2/83 | chrX | 53680934 | ||||||
| chrX:53680935
|
A | C | 211 | a0001c0001t0001g0063a0001c0001t0001g0064a0001c0001t0001g0069others(208): Show | 212 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(209): Show |
intron_variant | MODIFIER | c.-162-749T>G | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 2/83 | chrX | 53680935 | ||||||
| chrX:53681023
|
G | A | 2 | a0001c0019t0003g0029a0001c0020t0003g0030 | 2 | HG01884.hp1 HG02559.hp1 |
intron_variant | MODIFIER | c.-162-837C>T | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 2/83 | chrX | 53681023 | ||||||
| chrX:53681109
|
T | TA | 2 | a0001c0002t0002g0174a0001c0002t0007g0211 | 2 | NA18955.hp1 NA19082.hp1 |
intron_variant | MODIFIER | c.-162-924dupT | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 2/83 | chrX | 53681109 | ||||||
| chrX:53681211
|
G | A | 4 | a0001c0001t0003g0053a0001c0001t0003g0054a0001c0001t0003g0055others(1): Show | 4 | HG00735.hp2 HG01934.hp1 HG02717.hp1 others(1): Show |
intron_variant | MODIFIER | c.-162-1025C>T | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 2/83 | chrX | 53681211 | ||||||
| chrX:53681430
|
T | TA | 3 | a0001c0001t0004g0207a0001c0002t0002g0175a0001c0020t0003g0030 | 3 | HG01884.hp1 HG04228.hp1 NA19067.hp1 |
intron_variant | MODIFIER | c.-162-1245dupT | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 2/83 | chrX | 53681430 | ||||||
| chrX:53681430
|
T | TAA | 1 | a0001c0019t0003g0029 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.-162-1246_-162-124 others(6): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 2/83 | chrX | 53681430 | ||||||
| chrX:53681430
|
TA | T | 6 | a0001c0001t0001g0070a0001c0001t0001g0071a0001c0001t0002g0177others(3): Show | 6 | HG01081.hp2 HG03017.hp1 HG03225.hp1 others(3): Show |
intron_variant | MODIFIER | c.-162-1245delT | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 2/83 | chrX | 53681430 | ||||||
| chrX:53681640
|
G | A | 1 | a0001c0001t0011g0008 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.-162-1454C>T | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 2/83 | chrX | 53681640 | ||||||
| chrX:53682050
|
G | C | 1 | a0001c0001t0004g0206 | 1 | HG02148.hp1 | intron_variant | MODIFIER | c.-162-1864C>G | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 2/83 | chrX | 53682050 | ||||||
| chrX:53682199
|
C | CATTTT | 1 | a0001c0001t0011g0008 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.-162-2018_-162-201 others(9): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 2/83 | chrX | 53682199 | ||||||
| chrX:53682308
|
C | T | 1 | a0003c0016t0002g0119 | 1 | NA19083.hp1 | intron_variant | MODIFIER | c.-162-2122G>A | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 2/83 | chrX | 53682308 | ||||||
| chrX:53682438
|
A | G | 1 | a0001c0001t0003g0031 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.-162-2252T>C | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 2/83 | chrX | 53682438 | ||||||
| chrX:53682492
|
A | G | 2 | a0001c0001t0001g0069a0001c0001t0001g0117 | 2 | HG00544.hp1 NA19056.hp1 |
intron_variant | MODIFIER | c.-162-2306T>C | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 2/83 | chrX | 53682492 | ||||||
| chrX:53682498
|
A | G | 1 | a0001c0003t0002g0125 | 1 | HG00544.hp2 | intron_variant | MODIFIER | c.-162-2312T>C | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 2/83 | chrX | 53682498 | ||||||
| chrX:53682603
|
G | A | 1 | a0001c0020t0003g0030 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.-162-2417C>T | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 2/83 | chrX | 53682603 | ||||||
| chrX:53682817
|
A | C | 1 | a0001c0008t0004g0208 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.-162-2631T>G | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 2/83 | chrX | 53682817 | ||||||
| chrX:53683019
|
G | A | 82 | a0001c0001t0001g0063a0001c0001t0001g0064a0001c0001t0001g0069others(79): Show | 83 | HG00099.hp1 HG00438.hp1 HG00544.hp1 others(80): Show |
intron_variant | MODIFIER | c.-162-2833C>T | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 2/83 | chrX | 53683019 | ||||||
| chrX:53683119
|
A | G | 3 | a0001c0001t0006g0003a0001c0001t0006g0004a0001c0001t0010g0002 | 3 | HG02602.hp1 HG02735.hp1 HG04184.hp2 |
intron_variant | MODIFIER | c.-162-2933T>C | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 2/83 | chrX | 53683119 | ||||||
| chrX:53683255
|
GGAC | G | 1 | a0001c0001t0004g0186 | 1 | HG02080.hp1 | intron_variant | MODIFIER | c.-163+3012_-163+301 others(7): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 2/83 | chrX | 53683255 | ||||||
| chrX:53683465
|
T | C | 2 | a0001c0001t0003g0057a0001c0001t0003g0058 | 2 | HG01243.hp1 HG02615.hp2 |
intron_variant | MODIFIER | c.-163+2805A>G | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 2/83 | chrX | 53683465 | ||||||
| chrX:53683495
|
A | G | 1 | a0001c0001t0011g0008 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.-163+2775T>C | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 2/83 | chrX | 53683495 | ||||||
| chrX:53683580
|
T | G | 1 | a0001c0001t0003g0059 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.-163+2690A>C | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 2/83 | chrX | 53683580 | ||||||
| chrX:53683846
|
G | GC | 4 | a0001c0001t0001g0116a0001c0001t0004g0207a0001c0002t0002g0176others(1): Show | 4 | HG01496.hp1 HG02698.hp1 HG04184.hp1 others(1): Show |
intron_variant | MODIFIER | c.-163+2423dupG | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 2/83 | chrX | 53683846 | ||||||
| chrX:53683852
|
C | A | 35 | a0001c0001t0002g0177a0001c0001t0002g0178a0001c0001t0002g0179others(32): Show | 35 | HG00323.hp2 HG00735.hp2 HG01081.hp2 others(32): Show |
intron_variant | MODIFIER | c.-163+2418G>T | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 2/83 | chrX | 53683852 | ||||||
| chrX:53683854
|
A | AC | 1 | a0001c0002t0009g0124 | 1 | NA18949.hp1 | intron_variant | MODIFIER | c.-163+2415dupG | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 2/83 | chrX | 53683854 | ||||||
| chrX:53684203
|
G | C | 1 | a0001c0001t0003g0060 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.-163+2067C>G | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 2/83 | chrX | 53684203 | ||||||
| chrX:53684633
|
T | TC | 1 | a0001c0001t0001g0117 | 1 | NA19056.hp1 | intron_variant | MODIFIER | c.-163+1636dupG | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 2/83 | chrX | 53684633 | ||||||
| chrX:53684654
|
C | T | 1 | a0001c0002t0002g0123 | 1 | NA18942.hp1 | intron_variant | MODIFIER | c.-163+1616G>A | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 2/83 | chrX | 53684654 | ||||||
| chrX:53685201
|
TA | T | 4 | a0001c0002t0005g0120a0001c0002t0005g0121a0001c0002t0005g0122others(1): Show | 4 | HG01928.hp1 HG01978.hp2 HG01981.hp1 others(1): Show |
intron_variant | MODIFIER | c.-163+1068delT | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 2/83 | chrX | 53685201 | ||||||
| chrX:53685226
|
AT | A | 1 | a0001c0002t0005g0180 | 1 | HG01981.hp1 | intron_variant | MODIFIER | c.-163+1043delA | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 2/83 | chrX | 53685226 | ||||||
| chrX:53685308
|
T | TA | 1 | a0005c0012t0016g0181 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.-163+961dupT | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 2/83 | chrX | 53685308 | ||||||
| chrX:53685348
|
GC | G | 1 | a0005c0012t0016g0181 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.-163+921delG | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 2/83 | chrX | 53685348 | ||||||
| chrX:53685411
|
G | T | 1 | a0003c0016t0002g0119 | 1 | NA19083.hp1 | intron_variant | MODIFIER | c.-163+859C>A | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 2/83 | chrX | 53685411 | ||||||
| chrX:53685490
|
A | T | 1 | a0001c0008t0004g0208 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.-163+780T>A | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 2/83 | chrX | 53685490 | ||||||
| chrX:53685520
|
G | GA | 1 | a0005c0012t0016g0181 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.-163+749dupT | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 2/83 | chrX | 53685520 | ||||||
| chrX:53685538
|
CTA | C | 1 | a0001c0008t0004g0208 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.-163+730_-163+731d others(4): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 2/83 | chrX | 53685538 | ||||||
| chrX:53685646
|
T | G | 1 | a0001c0001t0001g0118 | 1 | HG00735.hp1 | intron_variant | MODIFIER | c.-163+624A>C | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 2/83 | chrX | 53685646 | ||||||
| chrX:53685670
|
G | T | 1 | a0001c0002t0007g0209 | 1 | HG00597.hp2 | intron_variant | MODIFIER | c.-163+600C>A | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 2/83 | chrX | 53685670 | ||||||
| chrX:53685700
|
T | TC | 1 | a0005c0012t0016g0181 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.-163+569dupG | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 2/83 | chrX | 53685700 | ||||||
| chrX:53685894
|
C | T | 3 | a0001c0001t0001g0063a0001c0001t0001g0064a0001c0001t0004g0185 | 3 | NA19075.hp1 NA19076.hp1 NA20805.hp1 |
intron_variant | MODIFIER | c.-163+376G>A | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 2/83 | chrX | 53685894 | ||||||
| chrX:53685982
|
GT | G | 1 | a0005c0012t0016g0181 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.-163+287delA | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 2/83 | chrX | 53685982 | ||||||
| chrX:53686008
|
T | TC | 1 | a0005c0012t0016g0181 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.-163+261dupG | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 2/83 | chrX | 53686008 | ||||||
| chrX:53686074
|
ATGTG | A | 1 | a0001c0008t0004g0208 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.-163+192_-163+195d others(6): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 2/83 | chrX | 53686074 | ||||||
| chrX:53686239
|
A | AG | 1 | a0005c0012t0016g0181 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.-163+30dupC | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 2/83 | chrX | 53686239 | ||||||
| chrX:53686463
|
A | AC | 1 | a0005c0012t0016g0181 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.-261-96dupG | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 1/83 | chrX | 53686463 | ||||||
| chrX:53686497
|
T | TC | 2 | a0001c0002t0002g0182a0001c0002t0002g0183 | 2 | HG01109.hp1 HG02135.hp1 |
intron_variant | MODIFIER | c.-262+90dupG | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 1/83 | chrX | 53686497 | ||||||
| chrX:53686497
|
T | TTC | 1 | a0005c0012t0016g0181 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.-262+90_-262+91ins others(2): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 1/83 | chrX | 53686497 | ||||||
| chrX:53686519
|
C | A | 1 | a0004c0010t0003g0061 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.-262+69G>T | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 1/83 | chrX | 53686519 |