Search by Genic region
Multiple Alignments (by aa haplotype frequency)
Multiple Alignments (by aa haplotype similarity)
| Item | Value |
|---|---|
| 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 | 211 | 41 | 41 | 91 | 11 | 25 | 66 | HUWE1_chrX_53527096_53691719 | HUWE1 | MKVDR others(4369): Show |
chrX | 53527096 | 53691719 |
| a0002 | 0/0 | 4374 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | MKVDR others(4369): Show |
chrX | 53527096 | 53691719 |
| a0003 | 0/0 | 4374 | 1 | 0 | 0 | 0 | 0 | 1 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | MKVDR others(4369): Show |
chrX | 53527096 | 53691719 |
| a0004 | 0/0 | 4374 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | MKVDR others(4369): Show |
chrX | 53527096 | 53691719 |
| achapid | grch38/chm13v2 | alen | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | aseq | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001 | 0/1 | 13122 | 121 | 30 | 22 | 49 | 6 | 13 | HUWE1_chrX_53527096_53691719 | HUWE1 | ATGAA others(13117): Show |
chrX | 53527096 | 53691719 | ||
| a0001c0002 | 0/0 | 13122 | 55 | 2 | 17 | 20 | 5 | 11 | HUWE1_chrX_53527096_53691719 | HUWE1 | ATGAA others(13117): Show |
chrX | 53527096 | 53691719 | ||
| a0001c0003 | 0/0 | 13122 | 17 | 0 | 0 | 17 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | ATGAA others(13117): Show |
chrX | 53527096 | 53691719 | ||
| a0001c0004 | 0/0 | 13122 | 4 | 4 | 0 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | ATGAA others(13117): Show |
chrX | 53527096 | 53691719 | ||
| a0001c0005 | 1/0 | 13122 | 2 | 1 | 0 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | ATGAA others(13117): Show |
chrX | 53527096 | 53691719 | ||
| a0001c0006 | 0/0 | 13122 | 2 | 0 | 0 | 2 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | ATGAA others(13117): Show |
chrX | 53527096 | 53691719 | ||
| a0001c0007 | 0/0 | 13122 | 1 | 0 | 1 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | ATGAA others(13117): Show |
chrX | 53527096 | 53691719 | ||
| a0001c0008 | 0/0 | 13122 | 1 | 1 | 0 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | ATGAA others(13117): Show |
chrX | 53527096 | 53691719 | ||
| a0001c0009 | 0/0 | 13122 | 1 | 1 | 0 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | ATGAA others(13117): Show |
chrX | 53527096 | 53691719 | ||
| a0001c0012 | 0/0 | 13122 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | ATGAA others(13117): Show |
chrX | 53527096 | 53691719 | ||
| a0001c0013 | 0/0 | 13122 | 1 | 0 | 1 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | ATGAA others(13117): Show |
chrX | 53527096 | 53691719 | ||
| a0001c0014 | 0/0 | 13122 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | ATGAA others(13117): Show |
chrX | 53527096 | 53691719 | ||
| a0001c0015 | 0/0 | 13122 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | ATGAA others(13117): Show |
chrX | 53527096 | 53691719 | ||
| a0001c0016 | 0/0 | 13122 | 1 | 0 | 0 | 0 | 0 | 1 | HUWE1_chrX_53527096_53691719 | HUWE1 | ATGAA others(13117): Show |
chrX | 53527096 | 53691719 | ||
| a0001c0018 | 0/0 | 13122 | 1 | 1 | 0 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | ATGAA others(13117): Show |
chrX | 53527096 | 53691719 | ||
| a0001c0019 | 0/0 | 13122 | 1 | 1 | 0 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | ATGAA others(13117): Show |
chrX | 53527096 | 53691719 | ||
| a0002c0011 | 0/0 | 13122 | 1 | 0 | 1 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | ATGAA others(13117): Show |
chrX | 53527096 | 53691719 | ||
| a0003c0017 | 0/0 | 13122 | 1 | 0 | 0 | 0 | 0 | 1 | HUWE1_chrX_53527096_53691719 | HUWE1 | ATGAA others(13117): Show |
chrX | 53527096 | 53691719 | ||
| a0004c0010 | 0/0 | 13122 | 1 | 1 | 0 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | ATGAA others(13117): Show |
chrX | 53527096 | 53691719 |
| acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001 | 0/0 | 14731 | 73 | 3 | 12 | 44 | 5 | 9 | HUWE1_chrX_53527096_53691719 | HUWE1 | GACTG others(14726): Show |
chrX | 53527096 | 53691719 |
| a0001c0001t0002 | 0/0 | 14742 | 5 | 2 | 1 | 2 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | GACTG others(14737): Show |
chrX | 53527096 | 53691719 |
| a0001c0001t0003 | 0/0 | 14731 | 35 | 24 | 7 | 2 | 1 | 1 | HUWE1_chrX_53527096_53691719 | HUWE1 | GACTG others(14726): Show |
chrX | 53527096 | 53691719 |
| a0001c0001t0005 | 0/0 | 14720 | 5 | 0 | 2 | 0 | 0 | 3 | HUWE1_chrX_53527096_53691719 | HUWE1 | GACTG others(14715): Show |
chrX | 53527096 | 53691719 |
| a0001c0001t0009 | 0/0 | 14742 | 1 | 1 | 0 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | GACTG others(14737): Show |
chrX | 53527096 | 53691719 |
| a0001c0001t0011 | 0/0 | 14764 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | GACTG others(14759): Show |
chrX | 53527096 | 53691719 |
| a0001c0001t0012 | 0/1 | 14742 | 1 | 0 | 0 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | GACTG others(14737): Show |
chrX | 53527096 | 53691719 |
| a0001c0002t0001 | 0/0 | 14731 | 1 | 0 | 1 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | GACTG others(14726): Show |
chrX | 53527096 | 53691719 |
| a0001c0002t0002 | 0/0 | 14742 | 31 | 1 | 9 | 8 | 3 | 10 | HUWE1_chrX_53527096_53691719 | HUWE1 | GACTG others(14737): Show |
chrX | 53527096 | 53691719 |
| a0001c0002t0003 | 0/0 | 14731 | 10 | 1 | 1 | 7 | 1 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | GACTG others(14726): Show |
chrX | 53527096 | 53691719 |
| a0001c0002t0004 | 0/0 | 14742 | 6 | 0 | 6 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | GACTG others(14737): Show |
chrX | 53527096 | 53691719 |
| a0001c0002t0006 | 0/0 | 14753 | 3 | 0 | 0 | 3 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | GACTG others(14748): Show |
chrX | 53527096 | 53691719 |
| a0001c0002t0007 | 0/0 | 14742 | 2 | 0 | 0 | 1 | 0 | 1 | HUWE1_chrX_53527096_53691719 | HUWE1 | GACTG others(14737): Show |
chrX | 53527096 | 53691719 |
| a0001c0002t0008 | 0/0 | 14731 | 1 | 0 | 0 | 0 | 1 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | GACTG others(14726): Show |
chrX | 53527096 | 53691719 |
| a0001c0002t0010 | 0/0 | 14742 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | GACTG others(14737): Show |
chrX | 53527096 | 53691719 |
| a0001c0003t0001 | 0/0 | 14731 | 2 | 0 | 0 | 2 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | GACTG others(14726): Show |
chrX | 53527096 | 53691719 |
| a0001c0003t0002 | 0/0 | 14742 | 15 | 0 | 0 | 15 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | GACTG others(14737): Show |
chrX | 53527096 | 53691719 |
| a0001c0004t0003 | 0/0 | 14731 | 4 | 4 | 0 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | GACTG others(14726): Show |
chrX | 53527096 | 53691719 |
| a0001c0005t0003 | 1/0 | 14731 | 2 | 1 | 0 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | GACTG others(14726): Show |
chrX | 53527096 | 53691719 |
| a0001c0006t0001 | 0/0 | 14731 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | GACTG others(14726): Show |
chrX | 53527096 | 53691719 |
| a0001c0006t0002 | 0/0 | 14742 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | GACTG others(14737): Show |
chrX | 53527096 | 53691719 |
| a0001c0007t0001 | 0/0 | 14731 | 1 | 0 | 1 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | GACTG others(14726): Show |
chrX | 53527096 | 53691719 |
| a0001c0008t0001 | 0/0 | 14731 | 1 | 1 | 0 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | GACTG others(14726): Show |
chrX | 53527096 | 53691719 |
| a0001c0009t0001 | 0/0 | 14731 | 1 | 1 | 0 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | GACTG others(14726): Show |
chrX | 53527096 | 53691719 |
| a0001c0012t0002 | 0/0 | 14742 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | GACTG others(14737): Show |
chrX | 53527096 | 53691719 |
| a0001c0013t0001 | 0/0 | 14731 | 1 | 0 | 1 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | GACTG others(14726): Show |
chrX | 53527096 | 53691719 |
| a0001c0014t0002 | 0/0 | 14742 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | GACTG others(14737): Show |
chrX | 53527096 | 53691719 |
| a0001c0015t0002 | 0/0 | 14742 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | GACTG others(14737): Show |
chrX | 53527096 | 53691719 |
| a0001c0016t0006 | 0/0 | 14753 | 1 | 0 | 0 | 0 | 0 | 1 | HUWE1_chrX_53527096_53691719 | HUWE1 | GACTG others(14748): Show |
chrX | 53527096 | 53691719 |
| a0001c0018t0003 | 0/0 | 14731 | 1 | 1 | 0 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | GACTG others(14726): Show |
chrX | 53527096 | 53691719 |
| a0001c0019t0003 | 0/0 | 14731 | 1 | 1 | 0 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | GACTG others(14726): Show |
chrX | 53527096 | 53691719 |
| a0002c0011t0001 | 0/0 | 14731 | 1 | 0 | 1 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | GACTG others(14726): Show |
chrX | 53527096 | 53691719 |
| a0003c0017t0002 | 0/0 | 14742 | 1 | 0 | 0 | 0 | 0 | 1 | HUWE1_chrX_53527096_53691719 | HUWE1 | GACTG others(14737): Show |
chrX | 53527096 | 53691719 |
| a0004c0010t0003 | 0/0 | 14731 | 1 | 1 | 0 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | GACTG others(14726): Show |
chrX | 53527096 | 53691719 |
| actghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001g0001 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0001t0001g0065 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0001t0001g0066 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0001t0001g0067 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0001t0001g0071 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0001t0001g0072 | 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 |
| a0001c0001t0001g0077 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0001t0001g0078 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0001t0001g0079 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0001t0001g0080 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0001t0001g0081 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0001t0001g0082 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0001t0001g0083 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | 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 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0001t0001g0086 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | 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 | 0 | 0 | 1 | 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 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0001t0001g0096 | 0/0 | 1 | 0 | 0 | 1 | 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 | 0 | 0 | 1 | 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 | 1 | 0 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0001t0001g0101 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0001t0001g0102 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0001t0001g0103 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0001t0001g0104 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | 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 | 0 | 1 | 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 |
| a0001c0001t0001g0108 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0001t0001g0109 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0001t0001g0110 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0001t0001g0111 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0001t0001g0112 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0001t0001g0113 | 0/0 | 1 | 0 | 0 | 1 | 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 | 0 | 0 | 0 | 1 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0001t0001g0117 | 0/0 | 1 | 0 | 1 | 0 | 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 |
| a0001c0001t0001g0119 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0001t0001g0120 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0001t0001g0121 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0001t0001g0122 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0001t0001g0123 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0001t0001g0124 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0001t0001g0125 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0001t0001g0126 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0001t0001g0128 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0001t0001g0129 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0001t0001g0130 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0001t0001g0131 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0001t0001g0132 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0001t0001g0133 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0001t0001g0136 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0001t0001g0137 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0001t0001g0138 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0001t0001g0139 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0001t0001g0140 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0001t0001g0141 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0001t0001g0142 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0001t0001g0143 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0001t0001g0144 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0001t0002g0177 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0001t0002g0201 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0001t0002g0203 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0001t0002g0204 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0001t0002g0205 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0001t0003g0009 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0001t0003g0010 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0001t0003g0018 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0001t0003g0019 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0001t0003g0028 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0001t0003g0033 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0001t0003g0034 | 0/0 | 1 | 1 | 0 | 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 | 0 | 0 | 1 | 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 | 0 | 1 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0001t0003g0041 | 0/0 | 1 | 1 | 0 | 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 | 0 | 1 | 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 |
| a0001c0001t0003g0048 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0001t0003g0049 | 0/0 | 1 | 0 | 1 | 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 | 1 | 0 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0001t0003g0053 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0001t0003g0054 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0001t0003g0055 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0001t0003g0056 | 0/0 | 1 | 1 | 0 | 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 | 0 | 1 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0001t0003g0061 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0001t0003g0062 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0001t0005g0004 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0001t0005g0005 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0001t0005g0006 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0001t0005g0007 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0001t0005g0008 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0001t0009g0064 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0001t0011g0206 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0001t0012g0207 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0002t0001g0070 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0002t0002g0150 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0002t0002g0152 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0002t0002g0153 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0002t0002g0154 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | 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 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0002t0002g0158 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | 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 | 0 | 0 | 0 | 1 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0002t0002g0162 | 0/0 | 1 | 0 | 0 | 1 | 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 |
| a0001c0002t0002g0168 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0002t0002g0169 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0002t0002g0170 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0002t0002g0171 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0002t0002g0173 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0002t0002g0174 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0002t0002g0175 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0002t0002g0178 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0002t0002g0180 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0002t0002g0181 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0002t0002g0184 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0002t0002g0185 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0002t0002g0186 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0002t0002g0189 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0002t0002g0190 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0002t0002g0191 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0002t0002g0193 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0002t0002g0194 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0002t0002g0195 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0002t0002g0196 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0002t0003g0016 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0002t0003g0017 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0002t0003g0020 | 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 | 0 | 1 | 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 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0002t0003g0026 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0002t0003g0027 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0002t0004g0146 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0002t0004g0147 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0002t0004g0148 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0002t0004g0149 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0002t0004g0166 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0002t0004g0182 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0002t0006g0208 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0002t0006g0209 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0002t0006g0211 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0002t0007g0198 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0002t0007g0199 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0002t0008g0015 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0002t0010g0164 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0003t0001g0074 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0003t0001g0127 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0003t0002g0002 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0003t0002g0003 | 0/0 | 2 | 0 | 0 | 2 | 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 |
| a0001c0003t0002g0159 | 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 |
| a0001c0003t0002g0167 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0003t0002g0172 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0003t0002g0179 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0003t0002g0183 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0003t0002g0187 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0003t0002g0192 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0003t0002g0197 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0003t0002g0202 | 0/0 | 1 | 0 | 0 | 1 | 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 |
| a0001c0004t0003g0014 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0005t0003g0029 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0005t0003g0030 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0006t0001g0073 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0006t0002g0176 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0007t0001g0134 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0008t0001g0068 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0009t0001g0095 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0012t0002g0145 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0013t0001g0069 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0014t0002g0188 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0015t0002g0157 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0016t0006g0210 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0018t0003g0031 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0001c0019t0003g0032 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0002c0011t0001g0135 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0003c0017t0002g0200 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| a0004c0010t0003g0063 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | 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 | g0122 | EUR | GBR | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG00099 | hp2 | a0001 | c0002 | t0008 | g0015 | EUR | GBR | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG00140 | hp1 | a0001 | c0002 | t0002 | g0173 | EUR | GBR | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG00280 | hp1 | a0001 | c0002 | t0002 | g0186 | EUR | FIN | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG00323 | hp1 | a0001 | c0002 | t0002 | g0152 | EUR | FIN | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG00323 | hp2 | a0001 | c0001 | t0003 | g0054 | EUR | FIN | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG00438 | hp1 | a0001 | c0001 | t0001 | g0090 | EAS | CHS | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG00438 | hp2 | a0001 | c0002 | t0002 | g0185 | EAS | CHS | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG00544 | hp1 | a0001 | c0001 | t0001 | g0076 | EAS | CHS | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG00544 | hp2 | a0001 | c0003 | t0002 | g0151 | EAS | CHS | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG00558 | hp1 | a0001 | c0001 | t0002 | g0177 | EAS | CHS | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG00558 | hp2 | a0001 | c0006 | t0002 | g0176 | EAS | CHS | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG00597 | hp1 | a0001 | c0001 | t0001 | g0093 | EAS | CHS | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG00597 | hp2 | a0001 | c0002 | t0006 | g0208 | EAS | CHS | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG00609 | hp1 | a0001 | c0001 | t0001 | g0131 | EAS | CHS | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG00621 | hp1 | a0001 | c0002 | t0003 | g0023 | EAS | CHS | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG00642 | hp1 | a0001 | c0002 | t0002 | g0154 | AMR | PUR | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG00673 | hp1 | a0001 | c0002 | t0010 | g0164 | EAS | CHS | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG00733 | hp1 | a0001 | c0001 | t0001 | g0121 | AMR | PUR | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG00733 | hp2 | a0001 | c0002 | t0004 | g0182 | AMR | PUR | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG00735 | hp1 | a0001 | c0001 | t0001 | g0144 | AMR | PUR | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG00735 | hp2 | a0001 | c0001 | t0003 | g0055 | AMR | PUR | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG00738 | hp1 | a0001 | c0001 | t0003 | g0018 | AMR | PUR | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG00741 | hp1 | a0001 | c0001 | t0001 | g0141 | AMR | PUR | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG00741 | hp2 | a0001 | c0013 | t0001 | g0069 | AMR | PUR | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG01069 | hp1 | a0001 | c0001 | t0005 | g0006 | AMR | PUR | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG01071 | hp1 | a0001 | c0001 | t0005 | g0007 | AMR | PUR | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG01071 | hp2 | a0001 | c0002 | t0002 | g0190 | AMR | PUR | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG01074 | hp1 | a0001 | c0002 | t0002 | g0160 | AMR | PUR | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG01081 | hp1 | a0001 | c0001 | t0001 | g0114 | AMR | PUR | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG01081 | hp2 | a0001 | c0001 | t0002 | g0203 | AMR | PUR | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG01099 | hp1 | a0001 | c0002 | t0002 | g0153 | AMR | PUR | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG01106 | hp1 | a0001 | c0001 | t0001 | g0125 | AMR | PUR | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG01109 | hp1 | a0001 | c0002 | t0002 | g0174 | AMR | PUR | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG01167 | hp1 | a0001 | c0001 | t0003 | g0040 | AMR | PUR | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG01169 | hp1 | a0001 | c0002 | t0004 | g0166 | AMR | PUR | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG01169 | hp2 | a0001 | c0001 | t0003 | g0049 | AMR | PUR | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG01192 | hp1 | a0001 | c0007 | t0001 | g0134 | AMR | PUR | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG01243 | hp1 | a0001 | c0001 | t0003 | g0060 | AMR | PUR | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG01255 | hp1 | a0001 | c0001 | t0003 | g0043 | AMR | CLM | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG01256 | hp1 | a0001 | c0002 | t0001 | g0070 | AMR | CLM | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG01258 | hp1 | a0001 | c0001 | t0001 | g0117 | AMR | CLM | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG01261 | hp1 | a0001 | c0002 | t0003 | g0016 | AMR | CLM | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG01358 | hp1 | a0001 | c0001 | t0001 | g0130 | AMR | CLM | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG01433 | hp1 | a0001 | c0001 | t0001 | g0140 | AMR | CLM | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG01496 | hp1 | a0001 | c0001 | t0001 | g0118 | AMR | CLM | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG01496 | hp2 | a0001 | c0002 | t0002 | g0191 | AMR | CLM | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG01515 | hp1 | a0001 | c0001 | t0001 | g0124 | EUR | IBS | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG01517 | hp1 | a0001 | c0002 | t0003 | g0022 | EUR | IBS | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG01517 | hp2 | a0001 | c0001 | t0001 | g0123 | EUR | IBS | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG01884 | hp1 | a0001 | c0019 | t0003 | g0032 | AFR | ACB | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG01884 | hp2 | a0001 | c0001 | t0003 | g0037 | AFR | ACB | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG01928 | hp1 | a0001 | c0002 | t0004 | g0147 | AMR | PEL | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG01934 | hp1 | a0001 | c0001 | t0003 | g0058 | AMR | PEL | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG01943 | hp1 | a0001 | c0002 | t0002 | g0175 | AMR | PEL | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG01952 | hp1 | a0002 | c0011 | t0001 | g0135 | AMR | PEL | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG01978 | hp1 | a0001 | c0001 | t0001 | g0081 | AMR | PEL | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG01978 | hp2 | a0001 | c0002 | t0004 | g0148 | AMR | PEL | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG01981 | hp1 | a0001 | c0002 | t0004 | g0149 | AMR | PEL | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG01981 | hp2 | a0001 | c0001 | t0001 | g0111 | AMR | PEL | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG02004 | hp1 | a0001 | c0002 | t0004 | g0146 | AMR | PEL | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG02004 | hp2 | a0001 | c0002 | t0002 | g0195 | AMR | PEL | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG02015 | hp1 | a0001 | c0001 | t0001 | g0113 | EAS | KHV | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG02027 | hp1 | a0001 | c0003 | t0002 | g0187 | EAS | KHV | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG02040 | hp1 | a0001 | c0001 | t0011 | g0206 | EAS | KHV | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG02055 | hp1 | a0001 | c0001 | t0009 | g0064 | AFR | ACB | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG02056 | hp1 | a0001 | c0001 | t0001 | g0138 | EAS | KHV | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG02071 | hp1 | a0001 | c0002 | t0006 | g0211 | EAS | KHV | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG02074 | hp1 | a0001 | c0014 | t0002 | g0188 | EAS | KHV | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG02080 | hp1 | a0001 | c0001 | t0001 | g0089 | EAS | KHV | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG02080 | hp2 | a0001 | c0003 | t0002 | g0192 | EAS | KHV | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG02083 | hp1 | a0001 | c0001 | t0003 | g0036 | EAS | KHV | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG02129 | hp1 | a0001 | c0003 | t0002 | g0179 | EAS | KHV | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG02132 | hp1 | a0001 | c0003 | t0002 | g0163 | EAS | KHV | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG02135 | hp1 | a0001 | c0002 | t0002 | g0193 | EAS | KHV | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG02145 | hp1 | a0001 | c0004 | t0003 | g0013 | AFR | ACB | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG02148 | hp1 | a0001 | c0001 | t0001 | g0143 | AMR | PEL | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG02148 | hp2 | a0001 | c0002 | t0002 | g0189 | AMR | PEL | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG02258 | hp1 | a0001 | c0001 | t0003 | g0053 | AFR | ACB | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG02572 | hp1 | a0001 | c0001 | t0003 | g0051 | AFR | GWD | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG02602 | hp1 | a0001 | c0001 | t0003 | g0010 | SAS | PJL | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG02615 | hp1 | a0001 | c0001 | t0001 | g0100 | AFR | GWD | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG02615 | hp2 | a0001 | c0001 | t0003 | g0059 | AFR | GWD | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG02622 | hp1 | a0001 | c0008 | t0001 | g0068 | AFR | GWD | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG02622 | hp2 | a0001 | c0001 | t0003 | g0046 | AFR | GWD | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG02647 | hp1 | a0001 | c0002 | t0003 | g0027 | AFR | GWD | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG02698 | hp1 | a0001 | c0002 | t0002 | g0184 | SAS | PJL | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG02717 | hp1 | a0001 | c0001 | t0003 | g0056 | AFR | GWD | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG02735 | hp1 | a0001 | c0001 | t0005 | g0004 | SAS | PJL | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG02738 | hp1 | a0001 | c0002 | t0007 | g0198 | 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 | g0045 | AFR | GWD | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG02895 | hp1 | a0001 | c0001 | t0003 | g0033 | AFR | GWD | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG02965 | hp1 | a0001 | c0001 | t0003 | g0042 | AFR | ESN | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG03017 | hp1 | a0001 | c0001 | t0001 | g0079 | SAS | PJL | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG03041 | hp1 | a0001 | c0001 | t0003 | g0061 | AFR | GWD | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG03041 | hp2 | a0001 | c0004 | t0003 | g0014 | AFR | GWD | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG03098 | hp1 | a0001 | c0001 | t0003 | g0062 | AFR | MSL | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG03130 | hp1 | a0001 | c0001 | t0003 | g0044 | AFR | ESN | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG03139 | hp1 | a0001 | c0009 | t0001 | g0095 | AFR | ESN | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG03209 | hp1 | a0001 | c0001 | t0003 | g0057 | AFR | MSL | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG03225 | hp1 | a0001 | c0001 | t0003 | g0034 | AFR | MSL | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG03239 | hp1 | a0001 | c0002 | t0002 | g0165 | SAS | PJL | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG03239 | hp2 | a0001 | c0001 | t0001 | g0103 | SAS | PJL | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG03453 | hp1 | a0001 | c0001 | t0001 | g0119 | AFR | MSL | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG03453 | hp2 | a0001 | c0001 | t0003 | g0048 | AFR | MSL | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG03490 | hp1 | a0001 | c0002 | t0002 | g0170 | SAS | PJL | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG03491 | hp1 | a0001 | c0001 | t0001 | g0078 | SAS | PJL | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG03491 | hp2 | a0001 | c0002 | t0002 | g0169 | SAS | PJL | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG03492 | hp1 | a0001 | c0002 | t0002 | g0168 | SAS | PJL | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG03516 | hp1 | a0001 | c0005 | t0003 | g0029 | AFR | ESN | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG03516 | hp2 | a0001 | c0001 | t0003 | g0047 | AFR | ESN | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG03579 | hp1 | a0001 | c0004 | t0003 | g0012 | AFR | MSL | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG03654 | hp1 | a0001 | c0002 | t0002 | g0161 | SAS | PJL | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG03688 | hp1 | a0001 | c0001 | t0005 | g0008 | SAS | STU | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG03704 | hp1 | a0001 | c0001 | t0001 | g0101 | SAS | PJL | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG03704 | hp2 | a0001 | c0002 | t0002 | g0171 | SAS | PJL | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG03710 | hp1 | a0001 | c0001 | t0001 | g0136 | SAS | PJL | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG03831 | hp1 | a0003 | c0017 | t0002 | g0200 | SAS | BEB | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG03831 | hp2 | a0001 | c0001 | t0001 | g0104 | SAS | BEB | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG03942 | hp1 | a0001 | c0001 | t0001 | g0132 | SAS | BEB | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG04115 | hp1 | a0001 | c0002 | t0002 | g0178 | SAS | STU | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG04184 | hp1 | a0001 | c0016 | t0006 | g0210 | SAS | BEB | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG04184 | hp2 | a0001 | c0001 | t0005 | g0005 | SAS | BEB | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG04199 | hp1 | a0001 | c0001 | t0001 | g0137 | SAS | STU | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG04204 | hp1 | a0001 | c0001 | t0001 | g0116 | SAS | STU | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG04228 | hp1 | a0001 | c0002 | t0002 | g0158 | SAS | STU | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| NA18522 | hp1 | a0001 | c0001 | t0003 | g0019 | AFR | YRI | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| NA18612 | hp1 | a0001 | c0001 | t0001 | g0108 | EAS | CHB | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| NA18747 | hp1 | a0001 | c0003 | t0002 | g0183 | EAS | CHB | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| NA18906 | hp1 | a0001 | c0001 | t0002 | g0204 | AFR | YRI | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| NA18906 | hp2 | a0004 | c0010 | t0003 | g0063 | AFR | YRI | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| NA18940 | hp1 | a0001 | c0003 | t0001 | g0074 | EAS | JPT | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| NA18942 | hp1 | a0001 | c0002 | t0002 | g0150 | EAS | JPT | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| NA18942 | hp2 | a0001 | c0001 | t0001 | g0071 | EAS | JPT | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| NA18943 | hp1 | a0001 | c0001 | t0001 | g0084 | EAS | JPT | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| NA18944 | hp1 | a0001 | c0001 | t0001 | g0097 | EAS | JPT | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| NA18945 | hp1 | a0001 | c0001 | t0001 | g0088 | EAS | JPT | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| NA18946 | hp1 | a0001 | c0001 | t0001 | g0120 | EAS | JPT | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| NA18946 | hp2 | a0001 | c0002 | t0003 | g0021 | EAS | JPT | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| NA18948 | hp1 | a0001 | c0001 | t0001 | g0096 | EAS | JPT | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| NA18949 | hp1 | a0001 | c0002 | t0007 | g0199 | EAS | JPT | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| NA18949 | hp2 | a0001 | c0001 | t0001 | g0142 | EAS | JPT | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| NA18952 | hp1 | a0001 | c0002 | t0003 | g0026 | EAS | JPT | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| NA18953 | hp1 | a0001 | c0001 | t0001 | g0087 | EAS | JPT | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| NA18957 | hp1 | a0001 | c0003 | t0002 | g0002 | EAS | JPT | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| NA18957 | hp2 | a0001 | c0001 | t0001 | g0085 | EAS | JPT | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| NA18959 | hp1 | a0001 | c0002 | t0002 | g0196 | EAS | JPT | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| NA18960 | hp1 | a0001 | c0003 | t0002 | g0002 | EAS | JPT | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| NA18961 | hp1 | a0001 | c0015 | t0002 | g0157 | EAS | JPT | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| NA18962 | hp1 | a0001 | c0001 | t0001 | g0102 | EAS | JPT | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| NA18966 | hp1 | a0001 | c0001 | t0001 | g0092 | EAS | JPT | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| NA18967 | hp1 | a0001 | c0001 | t0001 | g0099 | EAS | JPT | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| NA18970 | hp1 | a0001 | c0001 | t0001 | g0105 | EAS | JPT | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| NA18971 | hp1 | a0001 | c0001 | t0001 | g0115 | EAS | JPT | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| NA18974 | hp1 | a0001 | c0002 | t0002 | g0181 | EAS | JPT | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| NA18977 | hp1 | a0001 | c0003 | t0002 | g0167 | EAS | JPT | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| NA18982 | hp1 | a0001 | c0002 | t0003 | g0020 | EAS | JPT | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| NA18983 | hp1 | a0001 | c0003 | t0002 | g0159 | EAS | JPT | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| NA18984 | hp1 | a0001 | c0001 | t0001 | g0077 | EAS | JPT | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| NA18985 | hp1 | a0001 | c0003 | t0002 | g0197 | EAS | JPT | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| NA18986 | hp1 | a0001 | c0001 | t0003 | g0035 | EAS | JPT | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| NA18989 | hp1 | a0001 | c0001 | t0001 | g0082 | EAS | JPT | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| NA18990 | hp1 | a0001 | c0001 | t0001 | g0110 | EAS | JPT | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| NA18993 | hp1 | a0001 | c0001 | t0002 | g0201 | EAS | JPT | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| NA18993 | hp2 | a0001 | c0003 | t0001 | g0127 | EAS | JPT | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| NA18994 | hp1 | a0001 | c0001 | t0001 | g0133 | EAS | JPT | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| NA18995 | hp1 | a0001 | c0001 | t0001 | g0086 | EAS | JPT | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| NA19000 | hp1 | a0001 | c0001 | t0001 | g0139 | EAS | JPT | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| NA19004 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| NA19005 | hp1 | a0001 | c0001 | t0001 | g0107 | EAS | JPT | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| NA19007 | hp1 | a0001 | c0003 | t0002 | g0172 | EAS | JPT | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| NA19009 | hp1 | a0001 | c0003 | t0002 | g0003 | EAS | JPT | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| NA19012 | hp1 | a0001 | c0001 | t0001 | g0091 | EAS | JPT | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| NA19030 | hp1 | a0001 | c0001 | t0003 | g0009 | AFR | LWK | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| NA19030 | hp2 | a0001 | c0001 | t0002 | g0205 | AFR | LWK | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| NA19043 | hp1 | a0001 | c0001 | t0003 | g0028 | AFR | LWK | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| NA19055 | hp1 | a0001 | c0002 | t0003 | g0017 | EAS | JPT | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| NA19056 | hp1 | a0001 | c0001 | t0001 | g0075 | EAS | JPT | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| NA19058 | hp1 | a0001 | c0001 | t0001 | g0072 | EAS | JPT | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| NA19060 | hp1 | a0001 | c0006 | t0001 | g0073 | EAS | JPT | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| NA19063 | hp1 | a0001 | c0002 | t0002 | g0156 | EAS | JPT | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| NA19066 | hp1 | a0001 | c0003 | t0002 | g0003 | EAS | JPT | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| NA19067 | hp1 | a0001 | c0001 | t0001 | g0083 | EAS | JPT | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| NA19068 | hp1 | a0001 | c0002 | t0002 | g0155 | EAS | JPT | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| NA19070 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| NA19072 | hp1 | a0001 | c0001 | t0001 | g0106 | EAS | JPT | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| NA19075 | hp1 | a0001 | c0001 | t0001 | g0067 | EAS | JPT | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| NA19076 | hp1 | a0001 | c0001 | t0001 | g0065 | EAS | JPT | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| NA19079 | hp1 | a0001 | c0001 | t0001 | g0128 | EAS | JPT | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| NA19082 | hp1 | a0001 | c0002 | t0006 | g0209 | EAS | JPT | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| NA19083 | hp1 | a0001 | c0012 | t0002 | g0145 | EAS | JPT | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| NA19084 | hp1 | a0001 | c0003 | t0002 | g0202 | EAS | JPT | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| NA19084 | hp2 | a0001 | c0001 | t0001 | g0094 | EAS | JPT | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| NA19085 | hp1 | a0001 | c0002 | t0003 | g0025 | EAS | JPT | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| NA19086 | hp1 | a0001 | c0001 | t0001 | g0129 | EAS | JPT | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| NA19087 | hp1 | a0001 | c0001 | t0001 | g0126 | EAS | JPT | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| NA19087 | hp2 | a0001 | c0002 | t0003 | g0024 | EAS | JPT | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| NA19088 | hp1 | a0001 | c0001 | t0001 | g0109 | EAS | JPT | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| NA19091 | hp1 | a0001 | c0001 | t0001 | g0098 | 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 | g0194 | AFR | ASW | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| NA20752 | hp1 | a0001 | c0001 | t0001 | g0080 | EUR | TSI | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| NA20805 | hp1 | a0001 | c0001 | t0001 | g0066 | EUR | TSI | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| NA20905 | hp1 | a0001 | c0002 | t0002 | g0180 | SAS | GIH | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG02486 | hp1 | a0001 | c0001 | t0003 | g0041 | AFR | ACB | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG02559 | hp1 | a0001 | c0018 | t0003 | g0031 | AFR | ACB | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG02559 | hp2 | a0001 | c0001 | t0003 | g0052 | AFR | ACB | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| HG03471 | hp1 | a0001 | c0001 | t0003 | g0039 | AFR | MSL | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| NA18955 | hp1 | a0001 | c0002 | t0002 | g0162 | EAS | JPT | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| NA21309 | hp1 | a0001 | c0001 | t0003 | g0050 | AFR | LWK | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| NA21309 | hp2 | a0001 | c0001 | t0001 | g0112 | AFR | LWK | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| homoSapiens | chm13v2 | a0001 | c0001 | t0012 | g0207 | REF | REF | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| homoSapiens | grch38p0 | a0001 | c0005 | t0003 | g0030 | REF | REF | HUWE1_chrX_53527096_53691719 | HUWE1 | chrX | 53527096 | 53691719 |
| view | 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: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:53600157 | T | C | 1 | a0003 | 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 |
| view | 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 | 18 | a0001c0001 a0001c0002 a0001c0003 others(15): Show |
211 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(208): 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 | 18 | a0001c0001 a0001c0002 a0001c0003 others(15): Show |
211 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(208): 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 | a0001c0019 | 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 | a0001c0003 a0001c0012 |
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 | a0001c0012 | 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 | a0001c0016 | 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 | 9 | a0001c0002 a0001c0003 a0001c0006 others(6): 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 | a0001c0018 a0001c0019 |
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 |
| view | 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 | a0001c0002t0010 | 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:53532707 | C | A | 2 | a0001c0002t0004 a0001c0002t0008 |
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:53533100 | G | A | 1 | a0001c0002t0007 | 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:53686636 | G | GGCCCTGC others(4): Show |
1 | a0001c0001t0009 | 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 | a0001c0001t0005 | 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 | a0001c0001t0001 a0001c0008t0001 |
25 | HG00597.hp1 HG00733.hp1 HG01106.hp1 others(22): 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 | a0001c0003t0001 | 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 | a0001c0001t0003 | 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 | 9 | a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(6): Show |
82 | HG00099.hp1 HG00438.hp1 HG00544.hp1 others(79): 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 |
11 | a0001c0001t0002 a0001c0002t0002 a0001c0002t0004 others(8): 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 | a0001c0002t0006 a0001c0016t0006 |
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 | a0001c0001t0011 | 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 |
| view | 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 | a0001c0001t0001g0089 | 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 | a0001c0002t0006g0208 | 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 | a0001c0002t0006g0208 | 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 | a0001c0008t0001g0068 | 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 | a0001c0001t0002g0205 | 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 | a0001c0001t0003g0062 | 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 | T | 2 | a0001c0006t0001g0073 a0001c0006t0002g0176 |
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 | a0001c0001t0002g0177 a0001c0002t0002g0162 a0001c0002t0006g0209 |
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 | a0001c0002t0002g0190 | 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 | a0001c0001t0001g0105 | 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 | a0001c0002t0002g0194 | 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 | a0001c0001t0003g0054 | 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 | a0001c0002t0008g0015 | 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 | a0001c0018t0003g0031 | 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 | a0001c0001t0001g0117 a0001c0001t0001g0118 |
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 | a0001c0001t0003g0018 | 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 | a0001c0001t0003g0041 | 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 | 79 | a0001c0001t0002g0177 a0001c0002t0001g0070 a0001c0002t0002g0150 others(76): 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 | 79 | a0001c0001t0001g0075 a0001c0001t0001g0089 a0001c0001t0001g0104 others(76): 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 | a0001c0001t0003g0051 a0001c0002t0002g0161 a0001c0002t0002g0165 others(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 | a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0003g0010 others(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:53536259 | A | C | 1 | a0001c0004t0003g0012 | 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 | a0001c0002t0006g0211 | 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 | a0001c0002t0002g0175 a0001c0002t0002g0189 a0001c0002t0002g0190 others(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 | a0001c0018t0003g0031 a0001c0019t0003g0032 |
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 | a0001c0001t0003g0035 a0001c0001t0003g0036 |
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 | a0001c0002t0002g0162 a0001c0002t0006g0209 |
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 | a0001c0001t0003g0009 | 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 | a0001c0001t0001g0120 | 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 | a0001c0018t0003g0031 a0001c0019t0003g0032 |
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 | a0001c0008t0001g0068 a0001c0018t0003g0031 a0001c0019t0003g0032 |
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 | 1 | a0001c0001t0001g0103 | 1 | HG03239.hp2 | intron_variant | MODIFIER | c.11996+197C>T | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 77/83 | chrX | 53538140 | |||||||
| chrX:53538307 | C | T | 1 | a0001c0007t0001g0134 | 1 | HG01192.hp1 | intron_variant | MODIFIER | c.11996+30G>A | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 77/83 | chrX | 53538307 | |||||||
| chrX:53538690 | G | A | 1 | a0001c0012t0002g0145 | 1 | NA19083.hp1 | intron_variant | MODIFIER | c.11878+145C>T | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 76/83 | chrX | 53538690 | |||||||
| chrX:53538697 | TAC | T | 6 | a0001c0001t0001g0112 a0001c0002t0002g0161 a0001c0002t0002g0165 others(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 | a0001c0001t0001g0080 a0001c0002t0002g0171 |
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 | a0001c0001t0003g0038 a0001c0001t0003g0039 a0001c0001t0003g0052 others(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 | a0001c0001t0001g0078 a0001c0001t0001g0099 a0001c0001t0001g0108 others(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 | a0001c0001t0001g0112 | 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 | a0001c0001t0001g0101 a0001c0001t0002g0204 a0001c0002t0007g0198 others(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 | a0001c0001t0001g0001 a0001c0001t0001g0065 a0001c0001t0001g0066 others(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 | a0001c0001t0001g0077 a0001c0001t0001g0083 a0001c0001t0001g0088 others(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 | a0001c0001t0001g0123 a0001c0001t0001g0124 |
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 | a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0099 others(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 | a0001c0001t0001g0131 a0001c0001t0002g0203 |
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 | a0001c0001t0001g0121 | 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 | ACT | 5 | a0001c0001t0003g0059 a0001c0001t0003g0060 a0001c0002t0003g0017 others(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 | a0001c0002t0002g0196 a0001c0004t0003g0011 a0001c0004t0003g0012 others(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 | 3 | a0001c0001t0001g0103 a0001c0001t0001g0132 a0001c0001t0011g0206 |
3 | HG02040.hp1 HG03239.hp2 HG03942.hp1 |
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 | 177 | a0001c0001t0001g0001 a0001c0001t0001g0065 a0001c0001t0001g0066 others(174): 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 | ACTCTCTC others(5): Show |
A | 1 | a0001c0008t0001g0068 | 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 | a0001c0018t0003g0031 a0001c0019t0003g0032 |
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 | a0001c0018t0003g0031 a0001c0019t0003g0032 |
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 | a0001c0009t0001g0095 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.11878+105A>T | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 76/83 | chrX | 53538730 | |||||||
| chrX:53539105 | TA | T | 2 | a0001c0002t0002g0181 a0001c0014t0002g0188 |
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 | a0001c0005t0003g0029 | 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 | 83 | a0001c0001t0001g0065 a0001c0001t0001g0071 a0001c0001t0001g0072 others(80): Show |
83 | HG00099.hp1 HG00438.hp1 HG00544.hp1 others(80): Show |
intron_variant | MODIFIER | c.11633-241dupT | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 75/83 | chrX | 53539320 | |||||||
| chrX:53539320 | T | TAA | 6 | a0001c0001t0001g0082 a0001c0001t0001g0094 a0001c0001t0001g0121 others(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 | a0001c0001t0003g0036 a0001c0002t0002g0155 a0001c0002t0002g0165 others(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 | a0001c0002t0002g0174 | 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 | a0001c0002t0002g0184 | 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 | a0001c0001t0001g0119 | 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 | a0001c0002t0002g0194 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.11477-443G>T | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 74/83 | chrX | 53540255 | |||||||
| chrX:53540358 | T | G | 1 | a0001c0001t0003g0009 | 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 | a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0205 others(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 | a0001c0001t0001g0132 | 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 | 110 | a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0205 others(107): 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 | a0001c0002t0002g0150 | 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 | a0001c0009t0001g0095 | 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 | a0001c0001t0002g0205 | 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 | a0001c0018t0003g0031 a0001c0019t0003g0032 |
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 | a0001c0002t0002g0193 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.11476+1034C>T | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 74/83 | chrX | 53541409 | |||||||
| chrX:53541972 | G | C | 2 | a0001c0002t0007g0198 a0001c0002t0007g0199 |
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 | a0001c0001t0001g0125 | 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 | a0001c0001t0001g0072 a0001c0001t0001g0089 a0001c0001t0001g0100 others(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 | 31 | a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 others(28): Show |
31 | HG00733.hp1 HG01106.hp1 HG01515.hp1 others(28): 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 | a0001c0001t0001g0001 a0001c0001t0001g0076 a0001c0001t0001g0083 others(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 | a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0086 others(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 | a0001c0001t0001g0131 | 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 | a0001c0001t0001g0110 | 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 | 19 | a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0114 others(16): 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 | 58 | a0001c0001t0003g0040 a0001c0001t0003g0041 a0001c0001t0003g0042 others(55): 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 | a0001c0001t0003g0034 a0001c0001t0003g0035 a0001c0001t0003g0036 others(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 | a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0003g0050 others(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 | a0001c0001t0003g0052 a0001c0001t0003g0053 a0001c0001t0003g0055 others(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 | a0001c0001t0001g0104 a0001c0001t0001g0116 a0001c0004t0003g0014 |
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 | a0001c0004t0003g0011 a0001c0004t0003g0012 |
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 | a0001c0001t0003g0009 | 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 | a0001c0002t0002g0194 | 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 | a0001c0001t0001g0111 a0001c0001t0001g0117 a0001c0001t0001g0118 others(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 | a0001c0018t0003g0031 a0001c0019t0003g0032 |
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 | a0001c0003t0002g0167 | 1 | NA18977.hp1 | intron_variant | MODIFIER | c.11380-573G>A | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 73/83 | chrX | 53543112 | |||||||
| chrX:53544171 | C | T | 1 | a0001c0019t0003g0032 | 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 | a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0205 others(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 | a0001c0001t0001g0111 a0001c0001t0001g0117 a0001c0001t0001g0118 others(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:53545434 | C | T | 1 | a0001c0002t0003g0023 | 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 | a0001c0001t0003g0009 a0001c0018t0003g0031 a0001c0019t0003g0032 |
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:53545969 | G | A | 1 | a0004c0010t0003g0063 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.10915+467C>T | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 70/83 | chrX | 53545969 | |||||||
| chrX:53546074 | G | C | 3 | a0001c0008t0001g0068 a0001c0018t0003g0031 a0001c0019t0003g0032 |
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 | a0001c0001t0003g0042 a0001c0001t0003g0043 a0001c0001t0003g0044 others(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 | a0001c0001t0003g0044 | 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 | a0001c0001t0003g0018 | 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 | a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 |
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:53548530 | C | G | 1 | a0001c0002t0003g0026 | 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 | a0001c0018t0003g0031 a0001c0019t0003g0032 |
2 | HG01884.hp1 HG02559.hp1 |
intron_variant | MODIFIER | c.10035+328delC | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 67/83 | chrX | 53548630 | |||||||
| chrX:53549842 | C | G | 1 | a0001c0001t0003g0009 | 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 | a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0126 |
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 | 114 | a0001c0001t0002g0177 a0001c0001t0002g0203 a0001c0001t0002g0204 others(111): 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 | a0001c0002t0002g0175 a0001c0002t0002g0189 a0001c0002t0002g0190 others(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 | a0001c0001t0001g0103 | 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 | a0001c0018t0003g0031 a0001c0019t0003g0032 |
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 | a0001c0001t0001g0119 | 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 | a0001c0001t0003g0009 | 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 | a0001c0002t0002g0150 | 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 | a0001c0002t0002g0193 a0001c0015t0002g0157 |
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 | a0001c0003t0002g0159 a0001c0003t0002g0197 |
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 | a0001c0001t0001g0102 | 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 | a0001c0001t0003g0018 a0001c0001t0003g0019 |
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 | a0001c0004t0003g0011 a0001c0004t0003g0012 |
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 | a0001c0001t0003g0009 a0001c0008t0001g0068 a0001c0018t0003g0031 others(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:53554008 | T | G | 1 | a0001c0002t0003g0026 | 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 | a0001c0018t0003g0031 | 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 | a0001c0008t0001g0068 a0001c0018t0003g0031 a0001c0019t0003g0032 |
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 | a0001c0019t0003g0032 | 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 | a0001c0001t0003g0009 | 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 | a0001c0001t0003g0037 | 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 | a0001c0001t0003g0018 | 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 | a0001c0001t0003g0009 | 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 | a0001c0002t0002g0181 | 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 | a0001c0002t0002g0181 | 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 | a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0001g0116 others(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 | T | 1 | a0001c0002t0002g0181 | 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 | a0001c0001t0001g0065 a0001c0001t0003g0061 a0001c0004t0003g0011 others(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 | a0001c0001t0003g0059 a0001c0001t0003g0060 |
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:53555763 | T | A | 1 | a0001c0002t0004g0148 | 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 | a0001c0002t0002g0158 | 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 | a0001c0018t0003g0031 a0001c0019t0003g0032 |
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:53556127 | A | G | 1 | a0001c0001t0001g0128 | 1 | NA19079.hp1 | intron_variant | MODIFIER | c.8207-1207T>C | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 60/83 | chrX | 53556127 | |||||||
| chrX:53556750 | A | G | 1 | a0001c0015t0002g0157 | 1 | NA18961.hp1 | intron_variant | MODIFIER | c.8206+632T>C | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 60/83 | chrX | 53556750 | |||||||
| chrX:53557197 | G | A | 1 | a0001c0002t0002g0181 | 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 | a0001c0005t0003g0029 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.8206+82T>G | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 60/83 | chrX | 53557300 | |||||||
| chrX:53557457 | G | A | 45 | a0001c0001t0001g0001 a0001c0001t0001g0071 a0001c0001t0001g0072 others(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:53557647 | G | A | 1 | a0001c0002t0010g0164 | 1 | HG00673.hp1 | intron_variant | MODIFIER | c.8161-220C>T | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 59/83 | chrX | 53557647 | |||||||
| chrX:53558428 | G | A | 1 | a0001c0001t0001g0110 | 1 | NA18990.hp1 | intron_variant | MODIFIER | c.8160+227C>T | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 59/83 | chrX | 53558428 | |||||||
| chrX:53559604 | C | T | 1 | a0001c0001t0001g0103 | 1 | HG03239.hp2 | intron_variant | MODIFIER | c.7737-72G>A | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 56/83 | chrX | 53559604 | |||||||
| chrX:53560032 | CAT | C | 4 | a0001c0004t0003g0011 a0001c0004t0003g0012 a0001c0004t0003g0013 others(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:53560616 | G | A | 1 | a0001c0018t0003g0031 | 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 | a0001c0001t0003g0040 a0001c0001t0003g0049 |
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:53561035 | T | C | 1 | a0001c0005t0003g0029 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.7508-619A>G | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 55/83 | chrX | 53561035 | |||||||
| chrX:53562526 | C | T | 1 | a0001c0001t0001g0138 | 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 | a0001c0001t0003g0045 | 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 | a0001c0002t0002g0196 | 1 | NA18959.hp1 | intron_variant | MODIFIER | c.7204+216G>A | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 53/83 | chrX | 53562615 | |||||||
| chrX:53564031 | T | C | 1 | a0001c0002t0003g0023 | 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 | a0001c0002t0002g0181 | 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 | a0001c0001t0003g0040 a0001c0001t0003g0049 |
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 | a0001c0002t0002g0181 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.7030-300T>A | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 51/83 | chrX | 53564121 | |||||||
| chrX:53565377 | T | G | 1 | a0001c0001t0002g0177 | 1 | HG00558.hp1 | intron_variant | MODIFIER | c.6708-138A>C | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 49/83 | chrX | 53565377 | |||||||
| chrX:53565468 | G | C | 1 | a0001c0001t0001g0126 | 1 | NA19087.hp1 | intron_variant | MODIFIER | c.6708-229C>G | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 49/83 | chrX | 53565468 | |||||||
| chrX:53565559 | G | T | 1 | a0001c0001t0001g0137 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.6708-320C>A | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 49/83 | chrX | 53565559 | |||||||
| chrX:53565560 | AT | A | 5 | a0001c0001t0001g0080 a0001c0001t0001g0103 a0001c0001t0001g0112 others(2): Show |
5 | HG01106.hp1 HG01517.hp2 HG03239.hp2 others(2): Show |
intron_variant | MODIFIER | c.6708-322delA | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 49/83 | chrX | 53565560 | |||||||
| chrX:53565761 | C | T | 1 | a0001c0018t0003g0031 | 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 | a0001c0001t0003g0009 | 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 | a0001c0008t0001g0068 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.6708-706C>G | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 49/83 | chrX | 53565945 | |||||||
| chrX:53566109 | A | ATGTGTG | 2 | a0001c0001t0001g0119 a0001c0007t0001g0134 |
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:53566113 | A | ATG | 11 | a0001c0001t0001g0082 a0001c0001t0001g0111 a0001c0001t0001g0112 others(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 | 50 | a0001c0001t0001g0001 a0001c0001t0001g0065 a0001c0001t0001g0066 others(47): Show |
51 | HG00099.hp1 HG00438.hp1 HG00544.hp1 others(48): 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 | a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0101 |
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 | a0001c0001t0001g0119 a0001c0001t0003g0041 a0001c0007t0001g0134 |
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 | a0001c0001t0003g0038 a0001c0001t0003g0047 a0001c0001t0003g0050 others(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 | G | 94 | a0001c0001t0001g0001 a0001c0001t0001g0065 a0001c0001t0001g0066 others(91): Show |
95 | HG00099.hp1 HG00438.hp1 HG00544.hp1 others(92): 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 | a0001c0002t0002g0150 a0001c0002t0002g0196 a0001c0019t0003g0032 |
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 | a0001c0001t0003g0041 | 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 | a0001c0001t0003g0041 | 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 | a0001c0001t0003g0041 | 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 | GTATATAT others(13): Show |
1 | a0001c0002t0002g0195 | 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 | a0001c0001t0003g0039 a0001c0001t0003g0042 a0001c0001t0003g0043 others(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 | a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0205 others(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 | a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0002t0002g0158 others(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 |
12 | a0001c0001t0003g0033 a0001c0001t0003g0040 a0001c0001t0003g0049 others(9): 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 |
6 | a0001c0001t0003g0035 a0001c0001t0003g0036 a0001c0002t0002g0161 others(3): 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 | a0001c0001t0003g0018 a0001c0001t0003g0034 a0001c0002t0002g0181 others(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 | a0001c0002t0002g0193 | 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 | a0001c0002t0002g0190 | 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 | a0001c0001t0001g0083 a0001c0001t0001g0098 a0001c0001t0001g0102 others(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(3): Show |
3 | a0001c0001t0001g0125 a0001c0001t0003g0057 a0001c0002t0003g0022 |
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 | a0001c0001t0003g0046 a0001c0001t0003g0056 a0001c0001t0003g0058 |
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 | a0001c0001t0001g0107 a0001c0009t0001g0095 |
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 | a0001c0002t0002g0150 | 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 | a0001c0002t0002g0196 | 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 | a0001c0001t0005g0008 | 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 | a0001c0002t0004g0182 a0001c0019t0003g0032 |
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:53566135 | A | G | 18 | a0001c0001t0001g0082 a0001c0001t0001g0092 a0001c0001t0001g0094 others(15): Show |
18 | HG00609.hp1 HG01081.hp1 HG01981.hp2 others(15): 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 | a0001c0001t0001g0082 a0001c0001t0001g0109 a0001c0001t0001g0131 others(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 | a0001c0019t0003g0032 | 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 | a0001c0001t0003g0028 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.6708-902T>C | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 49/83 | chrX | 53566141 | |||||||
| chrX:53566277 | C | T | 1 | a0001c0018t0003g0031 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.6708-1038G>A | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 49/83 | chrX | 53566277 | |||||||
| chrX:53566458 | A | G | 3 | a0001c0001t0003g0035 a0001c0001t0003g0036 a0001c0001t0003g0044 |
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:53566549 | C | G | 1 | a0001c0001t0001g0110 | 1 | NA18990.hp1 | intron_variant | MODIFIER | c.6708-1310G>C | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 49/83 | chrX | 53566549 | |||||||
| chrX:53567038 | A | G | 1 | a0001c0001t0003g0028 | 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 | a0001c0001t0001g0081 | 1 | HG01978.hp1 | intron_variant | MODIFIER | c.6707+1546G>A | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 49/83 | chrX | 53567146 | |||||||
| chrX:53567376 | G | A | 2 | a0001c0002t0002g0168 a0001c0002t0002g0169 |
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:53567738 | G | A | 3 | a0001c0001t0003g0035 a0001c0001t0003g0036 a0001c0001t0003g0054 |
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:53568068 | A | G | 1 | a0001c0001t0001g0096 | 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 | a0001c0012t0002g0145 | 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 | a0001c0012t0002g0145 | 1 | NA19083.hp1 | intron_variant | MODIFIER | c.6707+532A>C | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 49/83 | chrX | 53568160 | |||||||
| chrX:53569138 | C | T | 1 | a0001c0001t0003g0050 | 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 | a0001c0001t0003g0040 a0001c0001t0003g0041 a0001c0001t0003g0049 |
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:53569400 | A | C | 2 | a0001c0001t0003g0035 a0001c0001t0003g0036 |
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:53570060 | ACT | A | 2 | a0001c0001t0003g0038 a0001c0001t0003g0062 |
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:53570216 | CTG | C | 34 | a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0205 others(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 | a0001c0002t0003g0021 | 1 | NA18946.hp2 | intron_variant | MODIFIER | c.6313-656A>G | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 47/83 | chrX | 53570483 | |||||||
| chrX:53570831 | A | G | 7 | a0001c0002t0004g0146 a0001c0002t0004g0147 a0001c0002t0004g0148 others(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 | a0001c0002t0006g0209 | 1 | NA19082.hp1 | intron_variant | MODIFIER | c.6313-1058A>T | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 47/83 | chrX | 53570885 | |||||||
| chrX:53571463 | T | C | 1 | a0001c0001t0003g0059 | 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 | a0001c0004t0003g0011 a0001c0004t0003g0012 a0001c0004t0003g0013 others(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:53572153 | A | G | 112 | a0001c0001t0002g0177 a0001c0001t0002g0201 a0001c0001t0002g0203 others(109): 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:53572249 | G | A | 1 | a0001c0001t0003g0028 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.6312+1501C>T | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 47/83 | chrX | 53572249 | |||||||
| chrX:53572557 | A | G | 2 | a0001c0002t0002g0193 a0001c0015t0002g0157 |
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 | a0001c0002t0006g0209 | 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 | a0001c0002t0006g0209 | 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 | a0001c0001t0002g0201 a0001c0003t0001g0074 a0001c0003t0001g0127 others(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:53572957 | A | C | 1 | a0001c0002t0006g0209 | 1 | NA19082.hp1 | intron_variant | MODIFIER | c.6312+793T>G | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 47/83 | chrX | 53572957 | |||||||
| chrX:53573179 | C | T | 4 | a0001c0004t0003g0011 a0001c0004t0003g0012 a0001c0004t0003g0013 others(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 | a0001c0001t0001g0099 a0001c0001t0001g0115 |
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 | a0001c0002t0003g0023 a0001c0002t0006g0209 a0001c0008t0001g0068 others(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 | a0001c0001t0003g0028 | 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 | a0001c0018t0003g0031 a0001c0019t0003g0032 |
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 | a0001c0001t0003g0009 | 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 | a0001c0001t0001g0106 | 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 | a0001c0002t0003g0027 | 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 | a0001c0001t0003g0042 a0001c0001t0003g0043 a0001c0001t0003g0044 others(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 | a0001c0018t0003g0031 a0001c0019t0003g0032 |
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 | a0001c0002t0002g0158 | 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 | 87 | a0001c0001t0002g0177 a0001c0001t0002g0201 a0001c0001t0003g0035 others(84): 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 | a0001c0009t0001g0095 | 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 | a0001c0008t0001g0068 a0001c0018t0003g0031 a0001c0019t0003g0032 |
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 | a0001c0001t0001g0139 | 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 | a0001c0001t0001g0103 | 1 | HG03239.hp2 | intron_variant | MODIFIER | c.6031-156C>T | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 45/83 | chrX | 53575377 | |||||||
| chrX:53575482 | T | G | 5 | a0001c0002t0002g0161 a0001c0002t0002g0165 a0001c0002t0002g0171 others(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 | a0001c0001t0001g0129 a0001c0001t0001g0131 a0001c0001t0002g0177 |
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 | a0001c0009t0001g0095 | 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 | a0001c0001t0003g0019 | 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 | a0001c0001t0003g0048 | 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 | a0001c0001t0001g0113 | 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 | a0001c0001t0003g0009 a0001c0008t0001g0068 a0001c0018t0003g0031 others(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 | a0001c0012t0002g0145 | 1 | NA19083.hp1 | intron_variant | MODIFIER | c.5717-205C>G | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 43/83 | chrX | 53577272 | |||||||
| chrX:53577311 | G | C | 2 | a0001c0001t0003g0059 a0001c0001t0003g0060 |
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 | 85 | a0001c0001t0001g0001 a0001c0001t0001g0065 a0001c0001t0001g0066 others(82): Show |
86 | HG00099.hp1 HG00438.hp1 HG00544.hp1 others(83): Show |
intron_variant | MODIFIER | c.5717-349delC | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 43/83 | chrX | 53577415 | |||||||
| chrX:53577457 | T | TA | 12 | a0001c0001t0001g0067 a0001c0001t0001g0081 a0001c0001t0001g0139 others(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:53577520 | TCCCTCC | T | 4 | a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 others(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 | CCTCTCCC others(5): Show |
7 | a0001c0002t0003g0017 a0001c0002t0003g0021 a0001c0002t0003g0023 others(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 | 65 | a0001c0002t0001g0070 a0001c0002t0002g0150 a0001c0002t0002g0152 others(62): 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 | 132 | a0001c0001t0001g0001 a0001c0001t0001g0065 a0001c0001t0001g0066 others(129): Show |
133 | HG00099.hp1 HG00323.hp2 HG00438.hp1 others(130): 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 | a0001c0003t0002g0197 | 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 | a0001c0001t0001g0090 | 1 | HG00438.hp1 | intron_variant | MODIFIER | c.5717-469G>A | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 43/83 | chrX | 53577536 | |||||||
| chrX:53577642 | C | T | 1 | a0001c0001t0003g0009 | 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 | 73 | a0001c0001t0001g0001 a0001c0001t0001g0066 a0001c0001t0001g0071 others(70): Show |
74 | HG00099.hp1 HG00438.hp1 HG00544.hp1 others(71): Show |
intron_variant | MODIFIER | c.5717-625dupA | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 43/83 | chrX | 53577691 | |||||||
| chrX:53577691 | G | GTT | 18 | a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0075 others(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 | a0001c0002t0003g0022 | 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 | a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 |
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 | a0001c0001t0001g0119 | 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 | a0001c0004t0003g0011 a0001c0004t0003g0012 a0001c0004t0003g0013 others(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 | a0001c0005t0003g0029 | 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 | a0001c0001t0001g0084 | 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 | a0001c0001t0001g0079 a0001c0001t0001g0101 |
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:53578041 | G | C | 77 | a0001c0001t0002g0177 a0001c0002t0001g0070 a0001c0002t0002g0150 others(74): 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:53578080 | C | T | 1 | a0001c0002t0002g0155 | 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 | a0001c0001t0003g0019 | 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 | a0001c0001t0001g0081 | 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 | 208 | a0001c0001t0001g0001 a0001c0001t0001g0065 a0001c0001t0001g0066 others(205): Show |
211 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(208): Show |
intron_variant | MODIFIER | c.5717-1054T>C | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 43/83 | chrX | 53578121 | |||||||
| chrX:53578173 | C | T | 35 | a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0205 others(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 | a0001c0001t0003g0052 | 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 | a0001c0005t0003g0029 | 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 | a0001c0001t0001g0132 | 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 | a0001c0001t0001g0065 | 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 | a0001c0002t0002g0194 | 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 | a0001c0001t0001g0072 a0001c0001t0001g0091 a0001c0001t0001g0107 others(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:53578372 | CGCCCGGC others(217): Show |
C | 2 | a0001c0018t0003g0031 a0001c0019t0003g0032 |
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 | a0001c0001t0003g0009 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.5717-1308G>T | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 43/83 | chrX | 53578375 | |||||||
| chrX:53578392 | C | A | 1 | a0001c0002t0003g0021 | 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 | a0001c0001t0001g0102 | 1 | NA18962.hp1 | intron_variant | MODIFIER | c.5717-1369C>T | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 43/83 | chrX | 53578436 | |||||||
| chrX:53578547 | CGCCCGGC others(42): Show |
C | 1 | a0001c0004t0003g0013 | 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:53578579 | A | AG | 8 | a0001c0001t0001g0090 a0001c0001t0001g0133 a0001c0001t0001g0138 others(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 | a0001c0004t0003g0011 a0001c0004t0003g0012 a0001c0004t0003g0014 |
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 | a0001c0001t0001g0119 | 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 | a0001c0002t0002g0161 a0001c0002t0002g0165 a0001c0002t0002g0171 others(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 | a0001c0001t0003g0018 a0001c0001t0003g0019 a0001c0001t0003g0028 |
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:53578803 | T | TG | 16 | a0001c0001t0001g0083 a0001c0001t0001g0093 a0001c0001t0001g0124 others(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:53578822 | C | CGCCCGGC others(217): Show |
1 | a0001c0001t0001g0066 | 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 | a0001c0001t0001g0067 | 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 | a0001c0001t0001g0066 | 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 | TGGGGGGT others(121): Show |
1 | a0001c0003t0002g0192 | 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:53578867 | C | CCCCGCCC others(9): Show |
4 | a0001c0001t0003g0055 a0001c0001t0003g0056 a0001c0001t0003g0057 others(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 | a0001c0003t0002g0192 | 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 | a0001c0001t0001g0066 | 1 | NA20805.hp1 | intron_variant | MODIFIER | c.5717-1821C>T | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 43/83 | chrX | 53578888 | |||||||
| chrX:53578909 | A | G | 1 | a0001c0015t0002g0157 | 1 | NA18961.hp1 | intron_variant | MODIFIER | c.5717-1842T>C | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 43/83 | chrX | 53578909 | |||||||
| chrX:53578917 | C | T | 1 | a0001c0015t0002g0157 | 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 | a0001c0015t0002g0157 | 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 | a0001c0015t0002g0157 | 1 | NA18961.hp1 | intron_variant | MODIFIER | c.5717-1873G>A | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 43/83 | chrX | 53578940 | |||||||
| chrX:53579018 | C | T | 1 | a0001c0001t0001g0066 | 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 | 166 | a0001c0001t0001g0001 a0001c0001t0001g0065 a0001c0001t0001g0076 others(163): Show |
169 | HG00140.hp1 HG00280.hp1 HG00323.hp1 others(166): Show |
intron_variant | MODIFIER | c.5716+1801dupC | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 43/83 | chrX | 53579029 | |||||||
| chrX:53579029 | C | T | 1 | a0001c0001t0001g0066 | 1 | NA20805.hp1 | intron_variant | MODIFIER | c.5716+1802G>A | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 43/83 | chrX | 53579029 | |||||||
| chrX:53579038 | G | GAGGTCGG others(162): Show |
1 | a0001c0007t0001g0134 | 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 | a0001c0001t0001g0066 | 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 | a0001c0001t0001g0066 | 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 | a0001c0001t0001g0066 | 1 | NA20805.hp1 | intron_variant | MODIFIER | c.5716+1790A>G | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 43/83 | chrX | 53579041 | |||||||
| chrX:53579077 | G | A | 1 | a0001c0001t0001g0066 | 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 | a0001c0001t0001g0066 | 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 | a0001c0001t0001g0066 | 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 | a0001c0001t0001g0066 | 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 | a0001c0001t0001g0119 | 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 | a0001c0001t0003g0051 a0001c0001t0003g0061 |
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:53579196 | T | C | 1 | a0001c0001t0001g0066 | 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 | 206 | a0001c0001t0001g0001 a0001c0001t0001g0065 a0001c0001t0001g0067 others(203): Show |
209 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(206): 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 | a0001c0001t0001g0066 | 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:53579295 | T | C | 1 | a0001c0001t0003g0019 | 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 | a0001c0001t0003g0009 a0001c0002t0002g0194 |
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 | 110 | a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0205 others(107): 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:53579755 | TCGTTAAG others(2): Show |
T | 3 | a0001c0001t0003g0010 a0001c0001t0005g0004 a0001c0001t0005g0005 |
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 | a0001c0001t0001g0099 a0001c0001t0001g0108 a0001c0001t0001g0115 others(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 | a0001c0001t0003g0038 a0001c0001t0003g0062 |
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 | a0001c0001t0003g0045 a0001c0002t0004g0147 a0001c0002t0004g0148 others(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:53579959 | A | T | 1 | a0001c0001t0001g0067 | 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 | 85 | a0001c0001t0001g0001 a0001c0001t0001g0065 a0001c0001t0001g0066 others(82): Show |
86 | HG00099.hp1 HG00438.hp1 HG00544.hp1 others(83): 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 | a0001c0001t0001g0067 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.5716+864T>A | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 43/83 | chrX | 53579967 | |||||||
| chrX:53579971 | T | A | 2 | a0001c0018t0003g0031 a0001c0019t0003g0032 |
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 | a0001c0018t0003g0031 a0001c0019t0003g0032 |
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 | a0001c0001t0003g0042 | 1 | HG02965.hp1 | intron_variant | MODIFIER | c.5716+820G>A | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 43/83 | chrX | 53580011 | |||||||
| chrX:53580389 | T | C | 1 | a0001c0001t0003g0009 | 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 | a0001c0001t0001g0114 | 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 | a0001c0001t0003g0052 a0001c0001t0003g0053 |
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:53580696 | A | G | 4 | a0001c0001t0003g0009 a0001c0008t0001g0068 a0001c0018t0003g0031 others(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 | a0001c0001t0003g0040 a0001c0001t0003g0041 a0001c0001t0003g0048 others(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 | 85 | a0001c0001t0001g0001 a0001c0001t0001g0065 a0001c0001t0001g0066 others(82): Show |
86 | HG00099.hp1 HG00438.hp1 HG00544.hp1 others(83): 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 | a0001c0018t0003g0031 a0001c0019t0003g0032 |
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 | a0001c0019t0003g0032 | 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 | a0001c0001t0003g0051 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.5521-443C>G | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 42/83 | chrX | 53581469 | |||||||
| chrX:53581795 | G | T | 1 | a0001c0002t0003g0027 | 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 | a0001c0001t0003g0018 | 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 | a0001c0001t0003g0028 | 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 | a0001c0001t0003g0056 | 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 | a0001c0001t0001g0077 | 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 | a0001c0002t0002g0184 | 1 | HG02698.hp1 | intron_variant | MODIFIER | c.5520+568G>A | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 42/83 | chrX | 53582990 | |||||||
| chrX:53583993 | T | C | 1 | a0001c0002t0003g0022 | 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 | a0001c0001t0003g0055 | 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 | a0001c0002t0002g0158 | 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 | a0001c0008t0001g0068 | 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 | a0001c0001t0001g0119 | 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 | a0001c0007t0001g0134 | 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 | a0001c0001t0001g0113 | 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 | a0001c0018t0003g0031 | 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 | a0001c0002t0002g0150 a0001c0002t0002g0155 a0001c0002t0002g0196 others(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:53588240 | T | A | 1 | a0001c0008t0001g0068 | 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 | a0001c0001t0001g0121 | 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 | 79 | a0001c0001t0002g0177 a0001c0001t0002g0201 a0001c0001t0003g0038 others(76): 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 | a0001c0002t0003g0027 | 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 | a0001c0018t0003g0031 | 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 | a0001c0008t0001g0068 | 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 | a0001c0002t0002g0180 | 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 | a0001c0001t0003g0034 | 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 | a0001c0001t0003g0009 | 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 | a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 |
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 | a0001c0001t0003g0061 | 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 | a0001c0002t0003g0024 a0001c0002t0003g0026 |
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 | a0001c0001t0003g0051 a0001c0001t0003g0061 |
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 | a0001c0002t0002g0175 a0001c0002t0002g0189 a0001c0002t0002g0190 others(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 | a0001c0002t0002g0178 | 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 | a0001c0002t0004g0166 a0001c0002t0004g0182 a0001c0002t0008g0015 |
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 | a0001c0008t0001g0068 a0001c0019t0003g0032 |
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:53594012 | GCATGAAC others(12): Show |
G | 3 | a0001c0001t0001g0082 a0001c0001t0001g0109 a0001c0001t0001g0133 |
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 | a0001c0019t0003g0032 | 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 | 85 | a0001c0001t0001g0001 a0001c0001t0001g0065 a0001c0001t0001g0066 others(82): Show |
86 | HG00099.hp1 HG00438.hp1 HG00544.hp1 others(83): 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 | a0001c0001t0001g0082 a0001c0001t0001g0106 a0001c0001t0001g0107 others(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 | a0003c0017t0002g0200 | 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 | a0001c0001t0003g0055 | 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 | 85 | a0001c0001t0001g0001 a0001c0001t0001g0065 a0001c0001t0001g0066 others(82): Show |
86 | HG00099.hp1 HG00438.hp1 HG00544.hp1 others(83): 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 | a0001c0018t0003g0031 a0001c0019t0003g0032 |
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 | a0001c0018t0003g0031 a0001c0019t0003g0032 |
2 | HG01884.hp1 HG02559.hp1 |
intron_variant | MODIFIER | c.3164-369dupT | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 29/83 | chrX | 53595771 | |||||||
| chrX:53595844 | T | A | 3 | a0001c0001t0003g0009 a0001c0008t0001g0068 a0001c0018t0003g0031 |
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 | a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0205 others(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 | a0001c0001t0001g0087 | 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 | a0001c0002t0001g0070 a0001c0002t0002g0152 a0001c0002t0002g0153 others(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 | a0001c0001t0003g0056 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.3164-1376A>G | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 29/83 | chrX | 53596779 | |||||||
| chrX:53597586 | TG | T | 2 | a0001c0001t0003g0052 a0001c0001t0003g0053 |
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 | a0001c0004t0003g0012 | 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 | a0001c0001t0003g0009 a0001c0001t0003g0019 a0001c0001t0003g0033 others(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 | a0001c0001t0003g0019 a0001c0018t0003g0031 a0001c0019t0003g0032 |
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:53598032 | C | G | 2 | a0001c0001t0003g0019 a0001c0002t0002g0150 |
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 | a0001c0001t0003g0019 | 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 | a0001c0001t0003g0019 | 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 | a0001c0001t0003g0019 | 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 | a0001c0002t0003g0027 | 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 | 208 | a0001c0001t0001g0001 a0001c0001t0001g0065 a0001c0001t0001g0066 others(205): Show |
211 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(208): 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 | a0001c0008t0001g0068 a0001c0018t0003g0031 a0001c0019t0003g0032 |
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 | a0001c0001t0003g0037 a0001c0001t0003g0047 a0001c0001t0009g0064 |
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 | a0001c0018t0003g0031 a0001c0019t0003g0032 |
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:53599959 | A | G | 1 | a0001c0009t0001g0095 | 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 | a0001c0006t0001g0073 | 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 | a0001c0001t0001g0144 | 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 | a0001c0018t0003g0031 a0001c0019t0003g0032 |
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 | a0001c0001t0005g0006 a0001c0001t0005g0007 |
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:53601665 | A | AT | 81 | a0001c0001t0001g0099 a0001c0001t0001g0132 a0001c0001t0002g0177 others(78): 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:53602063 | T | A | 1 | a0001c0001t0003g0061 | 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 | 78 | a0001c0001t0002g0177 a0001c0002t0001g0070 a0001c0002t0002g0150 others(75): 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 | a0001c0001t0001g0080 | 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 | GTT | 7 | a0001c0001t0001g0089 a0001c0001t0001g0129 a0001c0001t0001g0139 others(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:53602721 | T | C | 1 | a0001c0001t0001g0086 | 1 | NA18995.hp1 | intron_variant | MODIFIER | c.2877-63A>G | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 27/83 | chrX | 53602721 | |||||||
| chrX:53602850 | T | C | 1 | a0001c0001t0001g0120 | 1 | NA18946.hp1 | intron_variant | MODIFIER | c.2877-192A>G | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 27/83 | chrX | 53602850 | |||||||
| chrX:53602888 | T | G | 1 | a0001c0002t0002g0195 | 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 | a0001c0002t0001g0070 a0001c0002t0002g0152 a0001c0002t0002g0153 others(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 | a0001c0001t0003g0058 | 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 | a0001c0001t0003g0059 | 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 | a0001c0018t0003g0031 a0001c0019t0003g0032 |
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:53603864 | G | A | 3 | a0001c0008t0001g0068 a0001c0018t0003g0031 a0001c0019t0003g0032 |
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 | a0001c0008t0001g0068 a0001c0018t0003g0031 a0001c0019t0003g0032 |
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 | a0001c0003t0001g0074 | 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 | a0001c0002t0002g0154 a0001c0002t0002g0186 |
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:53605780 | T | A | 1 | a0001c0002t0002g0190 | 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 | a0001c0001t0001g0119 | 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 | a0001c0008t0001g0068 | 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 | a0001c0001t0003g0033 a0001c0001t0003g0034 a0001c0001t0003g0046 |
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 | 76 | a0001c0002t0001g0070 a0001c0002t0002g0150 a0001c0002t0002g0152 others(73): 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 | a0001c0001t0001g0001 a0001c0001t0001g0086 |
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 | a0001c0001t0003g0028 | 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 | a0001c0001t0005g0008 | 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 | a0001c0001t0003g0037 a0001c0001t0003g0042 a0001c0001t0003g0043 others(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 | a0001c0002t0003g0027 | 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 | a0001c0008t0001g0068 | 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 | a0001c0002t0003g0027 | 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 | a0001c0008t0001g0068 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.2320-22T>A | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 24/83 | chrX | 53607721 | |||||||
| chrX:53608379 | CAT | C | 76 | a0001c0002t0001g0070 a0001c0002t0002g0150 a0001c0002t0002g0152 others(73): 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 | a0001c0001t0001g0103 | 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 | a0001c0002t0003g0021 | 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 | a0001c0004t0003g0011 a0001c0004t0003g0012 a0001c0004t0003g0013 others(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 | a0001c0002t0003g0027 | 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 | a0001c0008t0001g0068 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.2262-292G>A | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 23/83 | chrX | 53609201 | |||||||
| chrX:53609779 | G | C | 38 | a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0205 others(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 | a0001c0001t0001g0137 | 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 | a0001c0002t0002g0175 | 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 | a0001c0018t0003g0031 a0001c0019t0003g0032 |
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 | a0001c0002t0002g0196 | 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 | a0001c0001t0003g0033 a0001c0001t0003g0035 a0001c0001t0003g0036 others(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:53611206 | A | G | 7 | a0001c0001t0001g0111 a0001c0001t0001g0117 a0001c0001t0001g0118 others(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 | a0001c0018t0003g0031 a0001c0019t0003g0032 |
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 | a0001c0008t0001g0068 a0001c0018t0003g0031 a0001c0019t0003g0032 |
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 | a0001c0001t0003g0009 | 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 | a0001c0001t0002g0205 a0001c0001t0003g0035 a0001c0001t0003g0036 others(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:53611867 | A | T | 1 | a0001c0002t0002g0156 | 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 | a0001c0002t0002g0194 | 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 | a0001c0004t0003g0011 a0001c0004t0003g0012 a0001c0004t0003g0013 others(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 | a0001c0001t0001g0141 | 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 | a0001c0008t0001g0068 | 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 | a0001c0002t0002g0175 a0001c0002t0002g0189 a0001c0002t0002g0190 others(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 | a0001c0007t0001g0134 | 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 | a0001c0001t0003g0055 a0001c0001t0003g0056 a0001c0001t0003g0057 others(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 | a0001c0005t0003g0029 | 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 | a0001c0001t0003g0009 | 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 | a0001c0002t0002g0194 | 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 | a0001c0018t0003g0031 a0001c0019t0003g0032 |
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:53614052 | G | A | 76 | a0001c0002t0001g0070 a0001c0002t0002g0150 a0001c0002t0002g0152 others(73): 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 | a0001c0001t0003g0009 | 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 | a0001c0001t0001g0139 | 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 | a0001c0001t0001g0137 | 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 | a0001c0018t0003g0031 a0001c0019t0003g0032 |
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:53615095 | C | T | 3 | a0001c0008t0001g0068 a0001c0018t0003g0031 a0001c0019t0003g0032 |
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 | a0001c0001t0001g0140 a0001c0001t0001g0141 |
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 | a0001c0001t0001g0083 a0001c0001t0001g0104 a0001c0001t0001g0106 others(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:53615437 | A | G | 2 | a0001c0001t0001g0075 a0001c0001t0001g0076 |
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:53615483 | C | T | 1 | a0001c0003t0002g0159 | 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 | a0001c0008t0001g0068 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.2049+79G>C | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 22/83 | chrX | 53615665 | |||||||
| chrX:53616084 | T | C | 2 | a0001c0001t0001g0136 a0001c0001t0001g0144 |
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:53616562 | A | G | 1 | a0001c0003t0002g0179 | 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 | a0001c0008t0001g0068 a0001c0018t0003g0031 a0001c0019t0003g0032 |
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 | 78 | a0001c0001t0002g0177 a0001c0002t0001g0070 a0001c0002t0002g0150 others(75): 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 | a0001c0002t0007g0198 a0001c0002t0007g0199 |
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 | a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0110 others(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 | 2 | a0001c0003t0002g0003 a0001c0003t0002g0183 |
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 | a0001c0018t0003g0031 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.1779+54C>T | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 20/83 | chrX | 53617286 | |||||||
| chrX:53617863 | C | T | 4 | a0001c0004t0003g0011 a0001c0004t0003g0012 a0001c0004t0003g0013 others(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 | a0001c0001t0003g0009 a0001c0008t0001g0068 a0001c0018t0003g0031 others(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 | a0001c0001t0003g0009 a0001c0008t0001g0068 a0001c0018t0003g0031 others(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 | a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0110 others(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 | 2 | a0001c0003t0002g0002 a0001c0003t0002g0172 |
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 | a0001c0001t0003g0009 a0001c0008t0001g0068 a0001c0018t0003g0031 others(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 | a0001c0003t0002g0167 | 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 | a0001c0001t0003g0009 a0001c0008t0001g0068 a0001c0018t0003g0031 others(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 | a0001c0001t0001g0066 a0001c0001t0001g0100 a0001c0001t0001g0111 others(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 | CT | C | 10 | a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0077 others(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 | a0001c0002t0002g0196 | 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 | a0001c0001t0003g0009 a0001c0008t0001g0068 a0001c0018t0003g0031 others(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 | a0001c0001t0003g0009 a0001c0008t0001g0068 a0001c0018t0003g0031 others(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 | a0001c0001t0003g0009 a0001c0008t0001g0068 a0001c0018t0003g0031 others(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 | a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0205 others(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 | a0001c0001t0003g0009 a0001c0008t0001g0068 a0001c0018t0003g0031 others(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:53618881 | A | G | 5 | a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 others(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 | a0001c0001t0003g0009 a0001c0008t0001g0068 a0001c0018t0003g0031 others(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 | a0001c0002t0006g0211 | 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 | a0001c0001t0001g0120 | 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 | a0001c0008t0001g0068 | 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 | a0001c0008t0001g0068 a0001c0018t0003g0031 a0001c0019t0003g0032 |
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 | GA | G | 97 | a0001c0001t0001g0001 a0001c0001t0001g0065 a0001c0001t0001g0066 others(94): Show |
98 | HG00099.hp1 HG00438.hp1 HG00544.hp1 others(95): Show |
intron_variant | MODIFIER | c.1673-2145delT | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 19/83 | chrX | 53619590 | |||||||
| chrX:53619590 | GAA | G | 29 | a0001c0001t0001g0112 a0001c0001t0001g0126 a0001c0001t0002g0203 others(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 | a0001c0001t0003g0033 a0001c0001t0003g0034 a0001c0001t0003g0043 others(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:53619828 | G | A | 81 | a0001c0001t0001g0001 a0001c0001t0001g0065 a0001c0001t0001g0066 others(78): Show |
82 | HG00099.hp1 HG00438.hp1 HG00544.hp1 others(79): 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 | a0001c0008t0001g0068 a0001c0018t0003g0031 a0001c0019t0003g0032 |
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 | a0001c0008t0001g0068 a0001c0018t0003g0031 a0001c0019t0003g0032 |
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 | a0001c0001t0003g0018 a0001c0001t0003g0019 a0001c0001t0003g0028 |
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:53620253 | TTG | T | 7 | a0001c0001t0001g0067 a0001c0001t0001g0111 a0001c0001t0001g0117 others(4): Show |
7 | HG01071.hp1 HG01258.hp1 HG01358.hp1 others(4): 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 | a0001c0001t0001g0001 a0001c0001t0001g0065 a0001c0001t0001g0066 others(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:53620255 | G | T | 11 | a0001c0001t0001g0071 a0001c0001t0001g0077 a0001c0001t0001g0083 others(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 | 79 | a0001c0001t0001g0001 a0001c0001t0001g0065 a0001c0001t0001g0066 others(76): Show |
80 | HG00099.hp1 HG00438.hp1 HG00544.hp1 others(77): 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 | a0001c0002t0002g0170 | 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 | a0001c0007t0001g0134 | 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 | 208 | a0001c0001t0001g0001 a0001c0001t0001g0065 a0001c0001t0001g0066 others(205): Show |
211 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(208): 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 | a0001c0001t0003g0009 | 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 | a0001c0019t0003g0032 | 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 | a0001c0001t0003g0028 | 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 | a0001c0008t0001g0068 | 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 | a0001c0003t0002g0179 | 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 | 83 | a0001c0001t0001g0001 a0001c0001t0001g0065 a0001c0001t0001g0066 others(80): Show |
84 | HG00099.hp1 HG00438.hp1 HG00544.hp1 others(81): 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 | a0001c0008t0001g0068 | 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 | a0001c0001t0001g0100 | 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 | a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0205 others(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 | a0001c0002t0002g0170 a0001c0002t0002g0178 |
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 | 76 | a0001c0002t0001g0070 a0001c0002t0002g0150 a0001c0002t0002g0152 others(73): 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:53623105 | C | T | 1 | a0001c0002t0003g0027 | 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 | a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0205 others(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:53623422 | C | T | 1 | a0001c0001t0001g0110 | 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 | a0001c0001t0003g0018 | 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 | a0001c0002t0006g0211 | 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 | a0001c0001t0002g0204 a0001c0001t0003g0042 a0001c0001t0003g0043 others(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 | a0001c0008t0001g0068 | 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 | a0001c0001t0001g0105 a0001c0001t0001g0139 |
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 | a0001c0018t0003g0031 | 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 | a0001c0008t0001g0068 | 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 | 164 | a0001c0001t0001g0001 a0001c0001t0001g0065 a0001c0001t0001g0066 others(161): Show |
167 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(164): 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 | a0001c0001t0003g0035 a0001c0001t0003g0036 |
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 | a0001c0001t0001g0081 | 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 | a0001c0001t0003g0033 | 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 | a0001c0001t0001g0077 | 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 | 208 | a0001c0001t0001g0001 a0001c0001t0001g0065 a0001c0001t0001g0066 others(205): Show |
211 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(208): 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 | a0001c0008t0001g0068 | 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 | a0001c0001t0003g0043 | 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 | a0001c0008t0001g0068 | 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 | a0001c0002t0004g0146 | 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 | a0001c0001t0001g0120 a0001c0002t0002g0193 |
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 | a0001c0001t0001g0078 a0001c0001t0001g0082 a0001c0001t0001g0089 others(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 | a0001c0015t0002g0157 | 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 | 96 | a0001c0001t0001g0001 a0001c0001t0001g0065 a0001c0001t0001g0066 others(93): Show |
97 | HG00099.hp1 HG00438.hp1 HG00544.hp1 others(94): 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 | a0001c0001t0003g0019 a0001c0001t0003g0028 a0001c0001t0003g0035 others(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 | CGTGTGT | 2 | a0001c0001t0003g0018 a0001c0005t0003g0029 |
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 | a0001c0001t0009g0064 a0001c0008t0001g0068 |
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 | a0001c0001t0001g0084 a0001c0001t0001g0093 a0001c0001t0003g0038 others(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 | a0001c0001t0001g0001 a0001c0001t0001g0085 a0001c0001t0001g0086 others(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 | 129 | a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 others(126): Show |
131 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(128): 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 | a0001c0001t0001g0071 a0001c0001t0011g0206 a0001c0002t0002g0156 others(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 | a0001c0001t0001g0103 a0001c0002t0002g0175 a0001c0002t0002g0191 others(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 | a0001c0019t0003g0032 | 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 | a0001c0001t0003g0054 | 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 | a0001c0001t0001g0119 | 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 | a0001c0001t0005g0008 | 1 | HG03688.hp1 | intron_variant | MODIFIER | c.1489+119G>A | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 17/83 | chrX | 53627291 | |||||||
| chrX:53627565 | T | A | 206 | a0001c0001t0001g0001 a0001c0001t0001g0065 a0001c0001t0001g0066 others(203): Show |
209 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(206): Show |
intron_variant | MODIFIER | c.1384-50A>T | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 16/83 | chrX | 53627565 | |||||||
| chrX:53627567 | T | A | 204 | a0001c0001t0001g0001 a0001c0001t0001g0065 a0001c0001t0001g0066 others(201): Show |
207 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(204): 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 | a0001c0002t0003g0025 | 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 | a0001c0018t0003g0031 a0001c0019t0003g0032 |
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 | TA | T | 7 | a0001c0001t0001g0096 a0001c0001t0001g0122 a0001c0001t0003g0019 others(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 | 208 | a0001c0001t0001g0001 a0001c0001t0001g0065 a0001c0001t0001g0066 others(205): Show |
211 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(208): 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 | a0001c0002t0002g0161 | 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 | a0001c0001t0001g0125 a0001c0002t0002g0156 a0001c0018t0003g0031 others(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 | a0001c0001t0003g0051 a0001c0001t0003g0061 |
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 | a0001c0003t0002g0179 | 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 | a0001c0001t0001g0117 a0001c0001t0001g0118 |
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 | a0001c0001t0001g0117 a0001c0001t0001g0118 |
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 | a0001c0018t0003g0031 a0001c0019t0003g0032 |
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 | a0001c0002t0002g0160 a0001c0002t0002g0168 a0001c0002t0002g0169 others(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 | a0001c0001t0005g0005 | 1 | HG04184.hp2 | intron_variant | MODIFIER | c.862+517C>T | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 12/83 | chrX | 53630418 | |||||||
| chrX:53630621 | T | C | 1 | a0001c0018t0003g0031 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.862+314A>G | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 12/83 | chrX | 53630621 | |||||||
| chrX:53630709 | C | T | 1 | a0001c0001t0001g0103 | 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 | a0001c0004t0003g0014 | 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 | a0001c0001t0003g0059 a0001c0001t0003g0060 |
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:53631539 | C | T | 1 | a0001c0001t0001g0137 | 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 | a0001c0002t0003g0027 | 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 | a0001c0001t0003g0037 a0001c0001t0003g0047 a0001c0001t0009g0064 |
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 | a0001c0001t0003g0009 | 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 | 77 | a0001c0002t0001g0070 a0001c0002t0002g0150 a0001c0002t0002g0152 others(74): 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 | a0001c0001t0003g0009 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.645+175A>T | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 9/83 | chrX | 53632312 | |||||||
| chrX:53632626 | C | T | 4 | a0001c0004t0003g0011 a0001c0004t0003g0012 a0001c0004t0003g0013 others(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 | a0001c0001t0003g0039 | 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 | a0001c0001t0001g0138 | 1 | HG02056.hp1 | intron_variant | MODIFIER | c.567+315G>A | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 8/83 | chrX | 53633921 | |||||||
| chrX:53634718 | C | T | 1 | a0001c0005t0003g0029 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.505-420G>A | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 7/83 | chrX | 53634718 | |||||||
| chrX:53634966 | TTTAACA | T | 2 | a0001c0002t0003g0017 a0001c0002t0003g0025 |
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 | a0001c0001t0001g0001 a0001c0001t0001g0081 a0001c0001t0001g0084 others(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 | a0001c0003t0001g0074 a0001c0003t0002g0187 |
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 | 207 | a0001c0001t0001g0001 a0001c0001t0001g0065 a0001c0001t0001g0066 others(204): Show |
210 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(207): 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 | a0001c0001t0002g0177 | 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 | 79 | a0001c0001t0002g0177 a0001c0002t0001g0070 a0001c0002t0002g0150 others(76): 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: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 | a0001c0018t0003g0031 a0001c0019t0003g0032 |
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 | a0001c0001t0003g0036 | 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 | a0001c0002t0002g0160 a0001c0002t0002g0168 a0001c0002t0002g0169 others(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 | a0001c0001t0001g0121 | 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 | a0001c0001t0001g0106 | 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 | a0001c0001t0003g0052 | 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 | a0001c0018t0003g0031 a0001c0019t0003g0032 |
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:53638470 | C | T | 1 | a0001c0005t0003g0029 | 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 | a0001c0002t0002g0158 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.505-4854G>C | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 7/83 | chrX | 53639152 | |||||||
| chrX:53639692 | C | T | 2 | a0001c0001t0001g0099 a0001c0001t0001g0115 |
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 | a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0205 others(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 | a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0205 others(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:53640204 | T | C | 1 | a0003c0017t0002g0200 | 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 | 76 | a0001c0001t0001g0128 a0001c0002t0001g0070 a0001c0002t0002g0150 others(73): 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 | 83 | a0001c0001t0001g0001 a0001c0001t0001g0065 a0001c0001t0001g0066 others(80): Show |
84 | HG00099.hp1 HG00438.hp1 HG00544.hp1 others(81): 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 | a0001c0001t0003g0046 | 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 | a0001c0002t0003g0027 | 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 | a0001c0001t0001g0077 | 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 | a0001c0001t0001g0077 | 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 | a0001c0002t0002g0158 | 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 | a0001c0001t0001g0119 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.504+2775G>T | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 7/83 | chrX | 53642536 | |||||||
| chrX:53642870 | A | G | 1 | a0001c0001t0001g0144 | 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 | a0001c0001t0003g0018 a0001c0001t0003g0019 |
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 | a0001c0001t0003g0028 | 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 | a0001c0004t0003g0014 | 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 | 77 | a0001c0002t0001g0070 a0001c0002t0002g0150 a0001c0002t0002g0152 others(74): 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 | a0001c0001t0003g0009 | 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 | a0001c0002t0002g0170 | 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 | a0001c0002t0002g0154 | 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 | a0001c0018t0003g0031 a0001c0019t0003g0032 |
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:53644774 | G | A | 1 | a0001c0001t0003g0055 | 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 | a0001c0004t0003g0011 a0001c0004t0003g0012 a0001c0004t0003g0013 others(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 | a0001c0001t0003g0009 | 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 | a0001c0019t0003g0032 | 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 | a0001c0001t0003g0050 | 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 others(4): Show |
A | 2 | a0001c0001t0001g0121 a0001c0016t0006g0210 |
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 | 5 | a0001c0002t0002g0170 a0001c0002t0004g0147 a0001c0003t0002g0002 others(2): 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(5): Show |
A | 4 | a0001c0001t0003g0018 a0001c0001t0003g0028 a0001c0002t0002g0194 others(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 | a0001c0001t0003g0009 a0001c0002t0003g0024 |
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 | a0001c0002t0002g0155 | 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 | AAATATAT others(2): Show |
A | 13 | a0001c0001t0001g0001 a0001c0001t0001g0084 a0001c0001t0001g0085 others(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 | a0001c0001t0001g0119 a0001c0002t0002g0160 a0001c0002t0002g0165 others(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 | 34 | a0001c0002t0002g0158 a0001c0002t0002g0181 a0001c0002t0002g0185 others(31): 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 | a0001c0002t0002g0174 | 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 | AATATATA others(1): Show |
A | 6 | a0001c0001t0001g0067 a0001c0001t0001g0100 a0001c0001t0001g0105 others(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 | a0001c0001t0001g0082 a0001c0001t0001g0089 a0001c0001t0001g0109 others(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 | a0001c0001t0002g0203 a0001c0001t0003g0042 a0001c0001t0003g0043 others(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 | a0001c0002t0003g0017 a0001c0002t0003g0026 |
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 | a0001c0018t0003g0031 | 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 | ATATATAT | A | 7 | a0001c0001t0001g0083 a0001c0001t0001g0088 a0001c0001t0001g0096 others(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 | 52 | a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0071 others(49): Show |
52 | HG00323.hp2 HG00438.hp1 HG00558.hp1 others(49): 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 | a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0002g0204 others(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 | a0001c0002t0002g0152 a0001c0002t0002g0175 a0001c0002t0002g0184 others(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 | a0001c0002t0002g0196 a0001c0002t0006g0208 |
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 | a0001c0001t0003g0047 a0001c0001t0009g0064 |
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 | a0001c0001t0001g0076 a0001c0001t0001g0142 a0001c0001t0003g0037 others(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 | a0001c0001t0001g0067 a0001c0001t0001g0076 a0001c0001t0001g0096 others(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 | a0001c0001t0001g0075 a0001c0001t0001g0097 a0001c0001t0001g0098 others(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 | a0001c0001t0001g0141 a0001c0001t0002g0203 a0001c0001t0002g0204 others(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 | a0001c0001t0003g0033 a0001c0001t0003g0034 a0001c0001t0003g0035 others(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 | a0001c0001t0003g0033 a0001c0001t0003g0034 a0001c0001t0003g0035 others(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 | a0001c0001t0001g0080 | 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 | a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0205 others(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 | a0001c0001t0003g0010 a0001c0001t0005g0004 a0001c0001t0005g0005 |
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:53646207 | G | T | 2 | a0001c0001t0001g0075 a0001c0001t0001g0076 |
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 | a0001c0004t0003g0011 a0001c0004t0003g0012 a0001c0004t0003g0013 others(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 | a0001c0001t0003g0009 | 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 | a0001c0001t0001g0108 | 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 | a0001c0002t0002g0165 | 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 | a0001c0001t0003g0035 a0001c0001t0003g0036 a0001c0001t0003g0054 |
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 | a0001c0002t0002g0158 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.351+16G>C | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 6/83 | chrX | 53647352 | |||||||
| chrX:53647885 | T | C | 1 | a0001c0002t0003g0022 | 1 | HG01517.hp1 | intron_variant | MODIFIER | c.145-311A>G | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 5/83 | chrX | 53647885 | |||||||
| chrX:53648523 | T | TA | 4 | a0001c0001t0003g0009 a0001c0001t0003g0050 a0001c0001t0003g0060 others(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 | a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0205 others(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:53648535 | A | C | 77 | a0001c0002t0001g0070 a0001c0002t0002g0150 a0001c0002t0002g0152 others(74): 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 | a0001c0001t0003g0062 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.46-230G>T | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 4/83 | chrX | 53648540 | |||||||
| chrX:53648544 | A | AC | 33 | a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0205 others(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 | 77 | a0001c0002t0001g0070 a0001c0002t0002g0150 a0001c0002t0002g0152 others(74): 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 | a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0205 others(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 | 192 | a0001c0001t0001g0001 a0001c0001t0001g0065 a0001c0001t0001g0066 others(189): Show |
195 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(192): Show |
intron_variant | MODIFIER | c.46-343dupT | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 4/83 | chrX | 53648652 | |||||||
| chrX:53648652 | T | TAA | 11 | a0001c0001t0001g0121 a0001c0001t0003g0037 a0001c0001t0003g0042 others(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 | a0001c0002t0002g0175 a0001c0002t0002g0189 a0001c0002t0002g0190 others(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 | a0001c0003t0002g0159 | 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 | a0001c0001t0003g0054 | 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 | a0001c0001t0003g0035 a0001c0001t0003g0036 a0001c0001t0003g0037 others(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 | a0001c0001t0003g0050 | 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 | a0001c0005t0003g0029 | 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 | a0001c0001t0003g0048 | 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 | a0001c0001t0001g0078 | 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 | a0001c0002t0002g0196 | 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 | a0001c0001t0003g0051 a0001c0001t0003g0061 |
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 | a0001c0001t0003g0033 | 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 | 208 | a0001c0001t0001g0001 a0001c0001t0001g0065 a0001c0001t0001g0066 others(205): Show |
211 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(208): Show |
intron_variant | MODIFIER | c.46-2748T>G | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 4/83 | chrX | 53651058 | |||||||
| chrX:53651497 | C | T | 4 | a0001c0004t0003g0011 a0001c0004t0003g0012 a0001c0004t0003g0013 others(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 | a0001c0004t0003g0011 a0001c0004t0003g0012 a0001c0004t0003g0013 others(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 | a0001c0001t0003g0045 | 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 | a0001c0002t0002g0194 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.45+1902C>T | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 4/83 | chrX | 53652161 | |||||||
| chrX:53652688 | G | A | 1 | a0001c0001t0003g0009 | 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 | a0001c0002t0002g0171 | 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 | a0001c0002t0002g0180 | 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 | a0001c0008t0001g0068 | 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 | a0001c0003t0002g0179 | 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 | a0001c0001t0001g0119 | 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 | a0001c0001t0003g0033 | 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 | a0001c0001t0001g0136 | 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 | a0001c0001t0001g0130 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.-24-329T>G | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53654460 | |||||||
| chrX:53654737 | G | T | 1 | a0001c0002t0003g0023 | 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 | a0001c0002t0002g0171 | 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 | 77 | a0001c0002t0001g0070 a0001c0002t0002g0150 a0001c0002t0002g0152 others(74): 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 | a0001c0002t0003g0027 | 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 | 77 | a0001c0002t0001g0070 a0001c0002t0002g0150 a0001c0002t0002g0152 others(74): 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 | a0001c0002t0003g0027 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.-24-1299A>G | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53655430 | |||||||
| chrX:53655593 | G | C | 1 | a0001c0002t0002g0173 | 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 | a0001c0001t0001g0125 | 1 | HG01106.hp1 | intron_variant | MODIFIER | c.-24-1657G>A | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53655788 | |||||||
| chrX:53656220 | A | G | 3 | a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0126 |
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 | a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0205 others(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 | a0001c0001t0003g0018 | 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 | a0001c0001t0001g0132 | 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 | a0001c0001t0001g0119 | 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 | a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 others(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 | a0001c0001t0001g0142 a0001c0001t0003g0047 a0001c0004t0003g0011 others(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:53656555 | AAAAAAAG | A | 72 | a0001c0002t0001g0070 a0001c0002t0002g0150 a0001c0002t0002g0152 others(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 | a0001c0002t0002g0158 a0001c0002t0002g0174 a0001c0002t0002g0196 others(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 | a0001c0001t0001g0104 a0001c0001t0001g0107 a0001c0001t0002g0203 others(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 | 121 | a0001c0001t0001g0001 a0001c0001t0001g0065 a0001c0001t0001g0066 others(118): Show |
122 | HG00099.hp1 HG00323.hp2 HG00438.hp1 others(119): Show |
intron_variant | MODIFIER | c.-24-2431C>T | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53656562 | |||||||
| chrX:53656711 | T | C | 36 | a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0205 others(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 | a0001c0008t0001g0068 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.-24-2704A>G | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53656835 | |||||||
| chrX:53657381 | C | T | 1 | a0001c0001t0003g0054 | 1 | HG00323.hp2 | intron_variant | MODIFIER | c.-24-3250G>A | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53657381 | |||||||
| chrX:53657525 | C | CA | 6 | a0001c0002t0002g0175 a0001c0002t0002g0189 a0001c0002t0002g0190 others(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 | a0001c0018t0003g0031 a0001c0019t0003g0032 |
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(3): Show |
115 | a0001c0001t0001g0001 a0001c0001t0001g0065 a0001c0001t0001g0066 others(112): Show |
116 | HG00323.hp2 HG00438.hp1 HG00544.hp1 others(113): 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 |
80 | a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0122 others(77): 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 |
10 | a0001c0002t0002g0173 a0001c0002t0002g0178 a0001c0002t0003g0023 others(7): 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 | a0001c0001t0001g0092 | 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 | a0001c0002t0002g0174 | 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 | a0001c0001t0003g0059 a0001c0001t0003g0060 |
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 | a0001c0002t0002g0175 a0001c0002t0002g0189 a0001c0002t0002g0190 others(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 | a0001c0003t0002g0192 | 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 | a0001c0018t0003g0031 a0001c0019t0003g0032 |
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 | a0001c0002t0003g0027 | 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 | a0001c0002t0003g0025 | 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 | 75 | a0001c0002t0001g0070 a0001c0002t0002g0150 a0001c0002t0002g0152 others(72): 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 | a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0205 others(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 | a0001c0001t0001g0130 | 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 | a0001c0001t0003g0028 | 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 | a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0205 others(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 | a0001c0006t0002g0176 a0001c0009t0001g0095 |
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:53660890 | CTCAAG | C | 76 | a0001c0002t0001g0070 a0001c0002t0002g0150 a0001c0002t0002g0152 others(73): 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 | 11 | a0001c0001t0001g0099 a0001c0001t0001g0105 a0001c0002t0002g0150 others(8): Show |
11 | HG00597.hp2 HG02071.hp1 HG02135.hp1 others(8): Show |
intron_variant | MODIFIER | c.-24-6904dupA | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53661034 | |||||||
| chrX:53661034 | CT | C | 10 | a0001c0001t0001g0072 a0001c0001t0001g0126 a0001c0001t0003g0045 others(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 | a0001c0001t0001g0104 | 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 | a0001c0001t0001g0104 | 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 | a0001c0001t0002g0204 | 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 | a0001c0019t0003g0032 | 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 | a0001c0001t0003g0033 a0001c0001t0003g0034 a0001c0001t0003g0046 |
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 | a0001c0001t0003g0033 a0001c0001t0003g0034 a0001c0001t0003g0046 |
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:53662629 | T | C | 1 | a0001c0001t0003g0009 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.-24-8498A>G | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53662629 | |||||||
| chrX:53662898 | G | T | 1 | a0001c0001t0001g0081 | 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 | 79 | a0001c0001t0002g0177 a0001c0001t0002g0201 a0001c0002t0001g0070 others(76): 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 | a0001c0001t0001g0103 | 1 | HG03239.hp2 | intron_variant | MODIFIER | c.-24-8946T>C | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53663077 | |||||||
| chrX:53663395 | C | G | 1 | a0001c0001t0003g0018 | 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 | a0001c0018t0003g0031 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.-24-9519G>T | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53663650 | |||||||
| chrX:53663879 | T | TA | 5 | a0001c0002t0003g0017 a0001c0002t0003g0024 a0001c0002t0003g0025 others(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 | a0001c0001t0001g0096 a0001c0001t0003g0040 a0001c0001t0003g0041 others(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 | a0001c0001t0003g0028 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.-24-10132C>T | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53664263 | |||||||
| chrX:53664687 | TTGCCTTG others(3): Show |
T | 1 | a0001c0001t0001g0142 | 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 | a0001c0001t0001g0129 | 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 | a0001c0002t0002g0178 | 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 | a0001c0001t0001g0093 | 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 | a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 |
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:53665985 | G | A | 26 | a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0205 others(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:53666370 | A | C | 1 | a0001c0001t0001g0102 | 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 | a0001c0001t0003g0060 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.-24-12299C>T | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53666430 | |||||||
| chrX:53667069 | A | G | 1 | a0001c0001t0001g0142 | 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 | a0001c0001t0001g0128 | 1 | NA19079.hp1 | intron_variant | MODIFIER | c.-25+12951C>T | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53667098 | |||||||
| chrX:53667416 | T | C | 1 | a0001c0002t0002g0154 | 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 | a0001c0019t0003g0032 | 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 | a0001c0001t0003g0050 | 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 | a0001c0004t0003g0011 a0001c0004t0003g0012 a0001c0004t0003g0013 others(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 | a0001c0005t0003g0029 | 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 | a0001c0001t0003g0018 a0001c0001t0003g0019 |
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 | a0001c0002t0002g0154 | 1 | HG00642.hp1 | intron_variant | MODIFIER | c.-25+12058T>C | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53667991 | |||||||
| chrX:53668171 | C | T | 1 | a0001c0008t0001g0068 | 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 | a0001c0001t0001g0071 a0001c0001t0003g0009 a0001c0001t0003g0051 others(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 | a0001c0001t0003g0009 a0001c0018t0003g0031 |
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 | a0001c0004t0003g0011 a0001c0004t0003g0012 a0001c0004t0003g0013 others(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 | a0001c0004t0003g0011 a0001c0004t0003g0012 a0001c0004t0003g0013 others(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 | a0001c0019t0003g0032 | 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 | a0001c0002t0002g0150 | 1 | NA18942.hp1 | intron_variant | MODIFIER | c.-25+11264A>G | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53668785 | |||||||
| chrX:53669947 | T | A | 1 | a0001c0003t0002g0151 | 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 | a0001c0001t0001g0076 | 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 | a0001c0001t0003g0010 a0001c0001t0005g0004 a0001c0001t0005g0005 |
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 | a0001c0002t0003g0027 | 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 | a0001c0018t0003g0031 a0001c0019t0003g0032 |
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:53670333 | A | C | 1 | a0001c0004t0003g0013 | 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 | a0001c0001t0002g0177 | 1 | HG00558.hp1 | intron_variant | MODIFIER | c.-25+9602A>G | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53670447 | |||||||
| chrX:53670832 | G | C | 1 | a0001c0018t0003g0031 | 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 | a0001c0001t0001g0083 | 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 | a0001c0004t0003g0011 a0001c0004t0003g0012 a0001c0004t0003g0013 others(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:53671573 | G | A | 1 | a0001c0001t0005g0008 | 1 | HG03688.hp1 | intron_variant | MODIFIER | c.-25+8476C>T | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53671573 | |||||||
| chrX:53671763 | C | T | 1 | a0003c0017t0002g0200 | 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 | a0001c0001t0001g0001 a0001c0001t0001g0065 a0001c0001t0001g0066 others(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 | 22 | a0001c0001t0001g0072 a0001c0001t0001g0094 a0001c0001t0001g0099 others(19): Show |
23 | HG00609.hp1 HG00741.hp1 HG01192.hp1 others(20): 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 | CA | C | 17 | a0001c0001t0003g0009 a0001c0001t0003g0033 a0001c0001t0003g0035 others(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 | a0001c0001t0003g0034 a0001c0001t0003g0040 a0001c0001t0003g0041 others(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 | a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0205 others(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:53672056 | T | A | 1 | a0001c0008t0001g0068 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.-25+7993A>T | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53672056 | |||||||
| chrX:53672264 | C | CT | 7 | a0001c0001t0001g0083 a0001c0001t0001g0096 a0001c0001t0001g0097 others(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:53672867 | T | C | 1 | a0001c0002t0003g0027 | 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 | a0001c0002t0002g0194 | 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 | a0001c0001t0001g0001 a0001c0001t0001g0071 a0001c0001t0001g0072 others(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 | a0001c0001t0001g0140 a0001c0001t0001g0141 |
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 | a0001c0001t0003g0052 a0001c0001t0003g0053 |
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:53673948 | ACATAG | A | 2 | a0001c0004t0003g0013 a0001c0004t0003g0014 |
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:53675037 | A | G | 4 | a0001c0004t0003g0011 a0001c0004t0003g0012 a0001c0004t0003g0013 others(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 | a0001c0001t0003g0037 | 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 | a0001c0002t0002g0195 | 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 | a0001c0001t0003g0009 a0001c0018t0003g0031 a0001c0019t0003g0032 |
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 | 208 | a0001c0001t0001g0001 a0001c0001t0001g0065 a0001c0001t0001g0066 others(205): Show |
211 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(208): 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 | a0001c0002t0002g0196 | 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 | a0001c0001t0003g0028 | 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 | a0001c0001t0001g0082 | 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 | a0001c0012t0002g0145 | 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 | 208 | a0001c0001t0001g0001 a0001c0001t0001g0065 a0001c0001t0001g0066 others(205): Show |
211 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(208): 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:53676573 | A | G | 3 | a0001c0001t0003g0009 a0001c0018t0003g0031 a0001c0019t0003g0032 |
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:53677391 | C | T | 6 | a0001c0001t0003g0035 a0001c0001t0003g0036 a0001c0001t0003g0054 others(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:53677548 | G | T | 1 | a0001c0001t0003g0055 | 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 | a0001c0001t0001g0067 a0001c0001t0001g0076 a0001c0001t0001g0142 others(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:53678333 | A | C | 1 | a0001c0001t0001g0081 | 1 | HG01978.hp1 | intron_variant | MODIFIER | c.-25+1716T>G | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53678333 | |||||||
| chrX:53678542 | T | C | 2 | a0001c0001t0002g0201 a0001c0003t0002g0202 |
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 | a0001c0002t0004g0149 | 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 | a0001c0001t0003g0054 | 1 | HG00323.hp2 | intron_variant | MODIFIER | c.-25+1066A>G | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53678983 | |||||||
| chrX:53679174 | A | G | 1 | a0001c0019t0003g0032 | 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 | a0001c0002t0001g0070 a0001c0002t0002g0152 a0001c0002t0002g0153 others(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:53679638 | A | T | 1 | a0001c0001t0001g0080 | 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 | a0001c0019t0003g0032 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.-25+293A>T | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | 53679756 | |||||||
| chrX:53680440 | T | C | 1 | a0001c0008t0001g0068 | 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 | a0001c0001t0003g0009 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.-162-442C>T | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 2/83 | chrX | 53680628 | |||||||
| chrX:53680833 | A | G | 1 | a0001c0018t0003g0031 | 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 | 208 | a0001c0001t0001g0001 a0001c0001t0001g0065 a0001c0001t0001g0066 others(205): Show |
211 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(208): 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 | 208 | a0001c0001t0001g0001 a0001c0001t0001g0065 a0001c0001t0001g0066 others(205): Show |
211 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(208): Show |
intron_variant | MODIFIER | c.-162-747C>T | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 2/83 | chrX | 53680933 | |||||||
| chrX:53680934 | A | C | 208 | a0001c0001t0001g0001 a0001c0001t0001g0065 a0001c0001t0001g0066 others(205): Show |
211 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(208): Show |
intron_variant | MODIFIER | c.-162-748T>G | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 2/83 | chrX | 53680934 | |||||||
| chrX:53680935 | A | C | 208 | a0001c0001t0001g0001 a0001c0001t0001g0065 a0001c0001t0001g0066 others(205): Show |
211 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(208): 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 | a0001c0018t0003g0031 a0001c0019t0003g0032 |
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:53681211 | G | A | 4 | a0001c0001t0003g0055 a0001c0001t0003g0056 a0001c0001t0003g0057 others(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 | TA | T | 6 | a0001c0001t0001g0065 a0001c0001t0001g0077 a0001c0001t0001g0078 others(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 | a0001c0001t0003g0009 | 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 | a0001c0001t0001g0143 | 1 | HG02148.hp1 | intron_variant | MODIFIER | c.-162-1864C>G | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 2/83 | chrX | 53682050 | |||||||
| chrX:53682308 | C | T | 1 | a0001c0012t0002g0145 | 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 | a0001c0001t0003g0033 | 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 | a0001c0001t0001g0075 a0001c0001t0001g0076 |
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 | a0001c0003t0002g0151 | 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 | a0001c0019t0003g0032 | 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 | a0001c0008t0001g0068 | 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 | 81 | a0001c0001t0001g0001 a0001c0001t0001g0065 a0001c0001t0001g0066 others(78): Show |
82 | HG00099.hp1 HG00438.hp1 HG00544.hp1 others(79): 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 | a0001c0001t0003g0010 a0001c0001t0005g0004 a0001c0001t0005g0005 |
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:53683465 | T | C | 2 | a0001c0001t0003g0059 a0001c0001t0003g0060 |
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 | a0001c0001t0003g0009 | 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 | a0001c0001t0003g0061 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.-163+2690A>C | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 2/83 | chrX | 53683580 | |||||||
| chrX:53683852 | C | A | 35 | a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0205 others(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:53684203 | G | C | 1 | a0001c0001t0003g0062 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.-163+2067C>G | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 2/83 | chrX | 53684203 | |||||||
| chrX:53684654 | C | T | 1 | a0001c0002t0002g0150 | 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 | a0001c0002t0004g0146 a0001c0002t0004g0147 a0001c0002t0004g0148 others(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:53685411 | G | T | 1 | a0001c0012t0002g0145 | 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 | a0001c0008t0001g0068 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.-163+780T>A | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 2/83 | chrX | 53685490 | |||||||
| chrX:53685646 | T | G | 1 | a0001c0001t0001g0144 | 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 | a0001c0002t0006g0208 | 1 | HG00597.hp2 | intron_variant | MODIFIER | c.-163+600C>A | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 2/83 | chrX | 53685670 | |||||||
| chrX:53685894 | C | T | 3 | a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 |
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:53686519 | C | A | 1 | a0004c0010t0003g0063 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.-262+69G>T | HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 1/83 | chrX | 53686519 |