Search by Genic region
Multiple Alignments (by aa haplotype frequency)
Multiple Alignments (by aa haplotype similarity)
| Item | Value |
|---|---|
| geneid | 9843 |
| ensemblid | ENSG00000089472.18 |
| hgncid | 4866 |
| symbol | HEPH |
| name | hephaestin |
| refseq_nuc | NM_001367233.3 |
| refseq_prot | NP_001354162.2 |
| ensembl_nuc | ENST00000343002.7 |
| ensembl_prot | ENSP00000343939.2 |
| mane_status | MANE Select |
| chr | chrX |
| start | 66164247 |
| end | 66267389 |
| strand | + |
| ver | v1.2 |
| region | chrX:66164247-66267389 |
| region5000 | chrX:66159247-66272389 |
| regionname0 | HEPH_chrX_66164247_66267389 |
| regionname5000 | HEPH_chrX_66159247_66272389 |
| ahapid | grch38/chm13v2 | alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001 | 1/1 | 1158 | 205 | 62 | 45 | 70 | 8 | 18 | 51 | HEPH_chrX_66159247_66272389 | HEPH | MESGH others(1153): Show |
chrX | 66159247 | 66272389 |
| a0002 | 0/0 | 1158 | 3 | 3 | 0 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | MESGH others(1153): Show |
chrX | 66159247 | 66272389 |
| a0003 | 0/0 | 1158 | 2 | 0 | 0 | 2 | 0 | 0 | 2 | HEPH_chrX_66159247_66272389 | HEPH | MESGH others(1153): Show |
chrX | 66159247 | 66272389 |
| a0004 | 0/0 | 1158 | 2 | 0 | 0 | 2 | 0 | 0 | 2 | HEPH_chrX_66159247_66272389 | HEPH | MESGH others(1153): Show |
chrX | 66159247 | 66272389 |
| a0005 | 0/0 | 1158 | 2 | 0 | 0 | 2 | 0 | 0 | 2 | HEPH_chrX_66159247_66272389 | HEPH | MESGH others(1153): Show |
chrX | 66159247 | 66272389 |
| a0006 | 0/0 | 1158 | 1 | 0 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | MESGH others(1153): Show |
chrX | 66159247 | 66272389 |
| a0007 | 0/0 | 1158 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | MESGH others(1153): Show |
chrX | 66159247 | 66272389 |
| a0008 | 0/0 | 1158 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | MESGH others(1153): Show |
chrX | 66159247 | 66272389 |
| a0009 | 0/0 | 1158 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | HEPH_chrX_66159247_66272389 | HEPH | MESGH others(1153): Show |
chrX | 66159247 | 66272389 |
| achapid | grch38/chm13v2 | alen | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | aseq | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001 | 1/1 | 3474 | 122 | 3 | 27 | 69 | 6 | 15 | HEPH_chrX_66159247_66272389 | HEPH | ATGGA others(3469): Show |
chrX | 66159247 | 66272389 | ||
| a0001c0002 | 0/0 | 3474 | 56 | 38 | 13 | 0 | 2 | 3 | HEPH_chrX_66159247_66272389 | HEPH | ATGGA others(3469): Show |
chrX | 66159247 | 66272389 | ||
| a0001c0003 | 0/0 | 3474 | 24 | 19 | 5 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | ATGGA others(3469): Show |
chrX | 66159247 | 66272389 | ||
| a0001c0010 | 0/0 | 3474 | 1 | 1 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | ATGGA others(3469): Show |
chrX | 66159247 | 66272389 | ||
| a0001c0011 | 0/0 | 3474 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | ATGGA others(3469): Show |
chrX | 66159247 | 66272389 | ||
| a0001c0013 | 0/0 | 3474 | 1 | 1 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | ATGGA others(3469): Show |
chrX | 66159247 | 66272389 | ||
| a0002c0004 | 0/0 | 3474 | 3 | 3 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | ATGGA others(3469): Show |
chrX | 66159247 | 66272389 | ||
| a0003c0006 | 0/0 | 3474 | 2 | 0 | 0 | 2 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | ATGGA others(3469): Show |
chrX | 66159247 | 66272389 | ||
| a0004c0007 | 0/0 | 3474 | 2 | 0 | 0 | 2 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | ATGGA others(3469): Show |
chrX | 66159247 | 66272389 | ||
| a0005c0005 | 0/0 | 3474 | 2 | 0 | 0 | 2 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | ATGGA others(3469): Show |
chrX | 66159247 | 66272389 | ||
| a0006c0008 | 0/0 | 3474 | 1 | 0 | 0 | 0 | 1 | 0 | HEPH_chrX_66159247_66272389 | HEPH | ATGGA others(3469): Show |
chrX | 66159247 | 66272389 | ||
| a0007c0012 | 0/0 | 3474 | 1 | 0 | 1 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | ATGGA others(3469): Show |
chrX | 66159247 | 66272389 | ||
| a0008c0014 | 0/0 | 3474 | 1 | 1 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | ATGGA others(3469): Show |
chrX | 66159247 | 66272389 | ||
| a0009c0009 | 0/0 | 3474 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | ATGGA others(3469): Show |
chrX | 66159247 | 66272389 |
| acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001 | 1/1 | 4431 | 121 | 3 | 27 | 68 | 6 | 15 | HEPH_chrX_66159247_66272389 | HEPH | ATTCC others(4426): Show |
chrX | 66159247 | 66272389 |
| a0001c0001t0002 | 0/0 | 4431 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | ATTCC others(4426): Show |
chrX | 66159247 | 66272389 |
| a0001c0002t0001 | 0/0 | 4431 | 11 | 7 | 4 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | ATTCC others(4426): Show |
chrX | 66159247 | 66272389 |
| a0001c0002t0002 | 0/0 | 4431 | 43 | 29 | 9 | 0 | 2 | 3 | HEPH_chrX_66159247_66272389 | HEPH | ATTCC others(4426): Show |
chrX | 66159247 | 66272389 |
| a0001c0002t0003 | 0/0 | 4431 | 2 | 2 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | ATTCC others(4426): Show |
chrX | 66159247 | 66272389 |
| a0001c0003t0001 | 0/0 | 4431 | 15 | 13 | 2 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | ATTCC others(4426): Show |
chrX | 66159247 | 66272389 |
| a0001c0003t0002 | 0/0 | 4431 | 9 | 6 | 3 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | ATTCC others(4426): Show |
chrX | 66159247 | 66272389 |
| a0001c0010t0001 | 0/0 | 4431 | 1 | 1 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | ATTCC others(4426): Show |
chrX | 66159247 | 66272389 |
| a0001c0011t0001 | 0/0 | 4431 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | ATTCC others(4426): Show |
chrX | 66159247 | 66272389 |
| a0001c0013t0002 | 0/0 | 4431 | 1 | 1 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | ATTCC others(4426): Show |
chrX | 66159247 | 66272389 |
| a0002c0004t0002 | 0/0 | 4431 | 3 | 3 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | ATTCC others(4426): Show |
chrX | 66159247 | 66272389 |
| a0003c0006t0001 | 0/0 | 4431 | 2 | 0 | 0 | 2 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | ATTCC others(4426): Show |
chrX | 66159247 | 66272389 |
| a0004c0007t0001 | 0/0 | 4431 | 2 | 0 | 0 | 2 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | ATTCC others(4426): Show |
chrX | 66159247 | 66272389 |
| a0005c0005t0001 | 0/0 | 4431 | 2 | 0 | 0 | 2 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | ATTCC others(4426): Show |
chrX | 66159247 | 66272389 |
| a0006c0008t0001 | 0/0 | 4431 | 1 | 0 | 0 | 0 | 1 | 0 | HEPH_chrX_66159247_66272389 | HEPH | ATTCC others(4426): Show |
chrX | 66159247 | 66272389 |
| a0007c0012t0002 | 0/0 | 4431 | 1 | 0 | 1 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | ATTCC others(4426): Show |
chrX | 66159247 | 66272389 |
| a0008c0014t0001 | 0/0 | 4431 | 1 | 1 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | ATTCC others(4426): Show |
chrX | 66159247 | 66272389 |
| a0009c0009t0001 | 0/0 | 4431 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | ATTCC others(4426): Show |
chrX | 66159247 | 66272389 |
| actghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001g0003 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| a0001c0001t0001g0004 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| a0001c0001t0001g0005 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| a0001c0001t0001g0085 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| a0001c0001t0001g0086 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| a0001c0001t0001g0087 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| a0001c0001t0001g0088 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| a0001c0001t0001g0089 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| a0001c0001t0001g0090 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| a0001c0001t0001g0091 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| a0001c0001t0001g0093 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| a0001c0001t0001g0094 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| a0001c0001t0001g0095 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| a0001c0001t0001g0096 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| a0001c0001t0001g0097 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| a0001c0001t0001g0098 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| a0001c0001t0001g0099 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| a0001c0001t0001g0100 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| a0001c0001t0001g0101 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| a0001c0001t0001g0102 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| a0001c0001t0001g0103 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| a0001c0001t0001g0104 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| a0001c0001t0001g0105 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| a0001c0001t0001g0106 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| a0001c0001t0001g0107 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| a0001c0001t0001g0108 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| a0001c0001t0001g0109 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| a0001c0001t0001g0110 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| a0001c0001t0001g0111 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| a0001c0001t0001g0112 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| a0001c0001t0001g0113 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| a0001c0001t0001g0114 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| a0001c0001t0001g0116 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| a0001c0001t0001g0117 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| a0001c0001t0001g0118 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| a0001c0001t0001g0119 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| a0001c0001t0001g0120 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| a0001c0001t0001g0121 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| a0001c0001t0001g0122 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| a0001c0001t0001g0123 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| a0001c0001t0001g0124 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| a0001c0001t0001g0125 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| a0001c0001t0001g0126 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| a0001c0001t0001g0127 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| a0001c0001t0001g0128 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| a0001c0001t0001g0129 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| a0001c0001t0001g0130 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| a0001c0001t0001g0132 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| a0001c0001t0001g0133 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| a0001c0001t0001g0134 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| a0001c0001t0001g0135 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| a0001c0001t0001g0136 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| a0001c0001t0001g0137 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| a0001c0001t0001g0138 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| a0001c0001t0001g0139 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| a0001c0001t0001g0140 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| a0001c0001t0001g0141 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| a0001c0001t0001g0142 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| a0001c0001t0001g0143 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| a0001c0001t0001g0144 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| a0001c0001t0001g0145 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| a0001c0001t0001g0146 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| a0001c0001t0001g0147 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| a0001c0001t0001g0148 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| a0001c0001t0001g0149 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| a0001c0001t0001g0150 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| a0001c0001t0001g0151 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| a0001c0001t0001g0152 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| a0001c0001t0001g0153 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| a0001c0001t0001g0154 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| a0001c0001t0001g0155 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| a0001c0001t0001g0156 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| a0001c0001t0001g0157 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| a0001c0001t0001g0158 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| a0001c0001t0001g0159 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| a0001c0001t0001g0161 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| a0001c0001t0001g0162 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| a0001c0001t0001g0163 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| a0001c0001t0001g0164 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| a0001c0001t0001g0165 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| a0001c0001t0001g0168 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| a0001c0001t0001g0169 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| a0001c0001t0001g0170 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| a0001c0001t0001g0171 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| a0001c0001t0001g0172 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| a0001c0001t0001g0173 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| a0001c0001t0001g0174 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| a0001c0001t0001g0175 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| a0001c0001t0001g0176 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| a0001c0001t0001g0177 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| a0001c0001t0001g0178 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| a0001c0001t0001g0179 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| a0001c0001t0001g0180 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| a0001c0001t0001g0181 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| a0001c0001t0001g0182 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| a0001c0001t0001g0183 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| a0001c0001t0001g0184 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| a0001c0001t0001g0186 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| a0001c0001t0001g0187 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| a0001c0001t0001g0188 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| a0001c0001t0001g0189 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| a0001c0001t0001g0190 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| a0001c0001t0001g0191 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| a0001c0001t0001g0192 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| a0001c0001t0001g0194 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| a0001c0001t0001g0195 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| a0001c0001t0001g0196 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| a0001c0001t0001g0197 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| a0001c0001t0001g0198 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| a0001c0001t0001g0199 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| a0001c0001t0001g0200 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| a0001c0001t0001g0201 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| a0001c0001t0001g0202 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| a0001c0001t0001g0203 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| a0001c0001t0001g0204 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| a0001c0001t0001g0205 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| a0001c0001t0001g0206 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| a0001c0001t0001g0207 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| a0001c0001t0001g0212 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| a0001c0001t0001g0213 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| a0001c0001t0001g0214 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| a0001c0001t0002g0092 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| a0001c0002t0001g0006 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| a0001c0002t0001g0022 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| a0001c0002t0001g0023 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| a0001c0002t0001g0024 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| a0001c0002t0001g0025 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| a0001c0002t0001g0043 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| a0001c0002t0001g0046 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| a0001c0002t0001g0056 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| a0001c0002t0001g0058 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| a0001c0002t0001g0059 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| a0001c0002t0001g0215 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| a0001c0002t0002g0009 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| a0001c0002t0002g0010 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| a0001c0002t0002g0011 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| a0001c0002t0002g0033 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| a0001c0002t0002g0035 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| a0001c0002t0002g0036 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| a0001c0002t0002g0037 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| a0001c0002t0002g0038 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| a0001c0002t0002g0039 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| a0001c0002t0002g0040 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| a0001c0002t0002g0041 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| a0001c0002t0002g0042 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| a0001c0002t0002g0044 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| a0001c0002t0002g0045 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| a0001c0002t0002g0047 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| a0001c0002t0002g0048 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| a0001c0002t0002g0049 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| a0001c0002t0002g0050 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| a0001c0002t0002g0051 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| a0001c0002t0002g0052 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| a0001c0002t0002g0053 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| a0001c0002t0002g0054 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| a0001c0002t0002g0055 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| a0001c0002t0002g0057 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| a0001c0002t0002g0060 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| a0001c0002t0002g0061 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| a0001c0002t0002g0062 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| a0001c0002t0002g0063 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| a0001c0002t0002g0064 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| a0001c0002t0002g0065 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| a0001c0002t0002g0066 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| a0001c0002t0002g0067 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| a0001c0002t0002g0068 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| a0001c0002t0002g0069 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| a0001c0002t0002g0070 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| a0001c0002t0002g0071 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| a0001c0002t0002g0072 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| a0001c0002t0002g0073 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| a0001c0002t0002g0074 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| a0001c0002t0002g0075 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| a0001c0002t0002g0076 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| a0001c0002t0002g0216 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| a0001c0002t0002g0217 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| a0001c0002t0003g0032 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| a0001c0002t0003g0034 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| a0001c0003t0001g0001 | 0/0 | 2 | 0 | 2 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| a0001c0003t0001g0002 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| a0001c0003t0001g0017 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| a0001c0003t0001g0018 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| a0001c0003t0001g0019 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| a0001c0003t0001g0020 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| a0001c0003t0001g0021 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| a0001c0003t0001g0027 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| a0001c0003t0001g0028 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| a0001c0003t0001g0029 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| a0001c0003t0001g0030 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| a0001c0003t0001g0031 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| a0001c0003t0001g0078 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| a0001c0003t0001g0081 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| a0001c0003t0002g0007 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| a0001c0003t0002g0008 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| a0001c0003t0002g0012 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| a0001c0003t0002g0016 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| a0001c0003t0002g0026 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| a0001c0003t0002g0082 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| a0001c0003t0002g0209 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| a0001c0003t0002g0210 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| a0001c0003t0002g0211 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| a0001c0010t0001g0080 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| a0001c0011t0001g0131 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| a0001c0013t0002g0208 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| a0002c0004t0002g0013 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| a0002c0004t0002g0014 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| a0002c0004t0002g0015 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| a0003c0006t0001g0083 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| a0003c0006t0001g0084 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| a0004c0007t0001g0166 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| a0004c0007t0001g0167 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| a0005c0005t0001g0185 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| a0005c0005t0001g0193 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| a0006c0008t0001g0115 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| a0007c0012t0002g0077 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| a0008c0014t0001g0079 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| a0009c0009t0001g0160 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| HG00099 | hp1 | a0001 | c0001 | t0001 | g0201 | EUR | GBR | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| HG00099 | hp2 | a0001 | c0002 | t0002 | g0067 | EUR | GBR | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| HG00140 | hp1 | a0001 | c0001 | t0001 | g0181 | EUR | GBR | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| HG00280 | hp1 | a0006 | c0008 | t0001 | g0115 | EUR | FIN | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| HG00597 | hp1 | a0001 | c0001 | t0001 | g0148 | EAS | CHS | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| HG00597 | hp2 | a0001 | c0001 | t0001 | g0178 | EAS | CHS | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| HG00609 | hp1 | a0001 | c0001 | t0001 | g0120 | EAS | CHS | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| HG00621 | hp1 | a0001 | c0001 | t0001 | g0125 | EAS | CHS | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| HG00639 | hp1 | a0001 | c0001 | t0001 | g0161 | AMR | PUR | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| HG00639 | hp2 | a0001 | c0001 | t0001 | g0188 | AMR | PUR | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| HG00642 | hp1 | a0001 | c0001 | t0001 | g0119 | AMR | PUR | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| HG00673 | hp1 | a0001 | c0001 | t0002 | g0092 | EAS | CHS | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| HG00733 | hp1 | a0001 | c0002 | t0002 | g0070 | AMR | PUR | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| HG00733 | hp2 | a0001 | c0001 | t0001 | g0174 | AMR | PUR | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| HG00735 | hp1 | a0001 | c0003 | t0002 | g0008 | AMR | PUR | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| HG00735 | hp2 | a0001 | c0001 | t0001 | g0153 | AMR | PUR | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| HG00738 | hp1 | a0001 | c0003 | t0002 | g0209 | AMR | PUR | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| HG00741 | hp1 | a0001 | c0002 | t0001 | g0059 | AMR | PUR | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| HG00741 | hp2 | a0001 | c0001 | t0001 | g0171 | AMR | PUR | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| HG01069 | hp1 | a0001 | c0001 | t0001 | g0139 | AMR | PUR | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| HG01070 | hp1 | a0001 | c0001 | t0001 | g0113 | AMR | PUR | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| HG01070 | hp2 | a0001 | c0001 | t0001 | g0203 | AMR | PUR | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| HG01074 | hp1 | a0001 | c0001 | t0001 | g0204 | AMR | PUR | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| HG01081 | hp1 | a0001 | c0003 | t0002 | g0210 | AMR | PUR | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| HG01081 | hp2 | a0001 | c0002 | t0001 | g0058 | AMR | PUR | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| HG01099 | hp1 | a0001 | c0001 | t0001 | g0196 | AMR | PUR | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| HG01106 | hp1 | a0001 | c0001 | t0001 | g0189 | AMR | PUR | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| HG01109 | hp1 | a0001 | c0001 | t0001 | g0156 | AMR | PUR | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| HG01167 | hp1 | a0001 | c0003 | t0001 | g0001 | AMR | PUR | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| HG01169 | hp1 | a0001 | c0002 | t0002 | g0068 | AMR | PUR | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| HG01169 | hp2 | a0001 | c0003 | t0001 | g0001 | AMR | PUR | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| HG01192 | hp1 | a0001 | c0002 | t0001 | g0056 | AMR | PUR | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| HG01243 | hp1 | a0001 | c0002 | t0002 | g0010 | AMR | PUR | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| HG01255 | hp1 | a0001 | c0002 | t0002 | g0047 | AMR | CLM | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| HG01256 | hp1 | a0001 | c0001 | t0001 | g0098 | AMR | CLM | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| HG01257 | hp1 | a0001 | c0001 | t0001 | g0180 | AMR | CLM | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| HG01257 | hp2 | a0001 | c0001 | t0001 | g0164 | AMR | CLM | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| HG01258 | hp1 | a0001 | c0001 | t0001 | g0162 | AMR | CLM | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| HG01261 | hp1 | a0001 | c0001 | t0001 | g0163 | AMR | CLM | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| HG01358 | hp1 | a0001 | c0002 | t0001 | g0006 | AMR | CLM | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| HG01433 | hp1 | a0001 | c0001 | t0001 | g0155 | AMR | CLM | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| HG01496 | hp1 | a0001 | c0001 | t0001 | g0165 | AMR | CLM | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| HG01496 | hp2 | a0001 | c0002 | t0002 | g0062 | AMR | CLM | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| HG01515 | hp1 | a0001 | c0001 | t0001 | g0170 | EUR | IBS | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| HG01516 | hp1 | a0001 | c0002 | t0002 | g0057 | EUR | IBS | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| HG01516 | hp2 | a0001 | c0001 | t0001 | g0101 | EUR | IBS | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| HG01884 | hp1 | a0001 | c0002 | t0002 | g0042 | AFR | ACB | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| HG01884 | hp2 | a0001 | c0002 | t0002 | g0035 | AFR | ACB | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| HG01891 | hp1 | a0002 | c0004 | t0002 | g0014 | AFR | ACB | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| HG01891 | hp2 | a0001 | c0002 | t0002 | g0061 | AFR | ACB | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| HG01928 | hp1 | a0001 | c0002 | t0002 | g0065 | AMR | PEL | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| HG01934 | hp1 | a0001 | c0001 | t0001 | g0138 | AMR | PEL | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| HG01943 | hp1 | a0001 | c0001 | t0001 | g0149 | AMR | PEL | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| HG01952 | hp1 | a0001 | c0001 | t0001 | g0095 | AMR | PEL | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| HG01978 | hp1 | a0001 | c0001 | t0001 | g0136 | AMR | PEL | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| HG01978 | hp2 | a0001 | c0002 | t0002 | g0064 | AMR | PEL | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| HG01993 | hp1 | a0001 | c0002 | t0002 | g0063 | AMR | PEL | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| HG01993 | hp2 | a0001 | c0001 | t0001 | g0137 | AMR | PEL | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| HG02004 | hp1 | a0001 | c0001 | t0001 | g0135 | AMR | PEL | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| HG02004 | hp2 | a0001 | c0002 | t0002 | g0066 | AMR | PEL | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| HG02015 | hp1 | a0001 | c0001 | t0001 | g0172 | EAS | KHV | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| HG02027 | hp1 | a0001 | c0001 | t0001 | g0134 | EAS | KHV | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| HG02040 | hp1 | a0001 | c0001 | t0001 | g0128 | EAS | KHV | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| HG02055 | hp1 | a0001 | c0003 | t0001 | g0078 | AFR | ACB | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| HG02056 | hp1 | a0001 | c0001 | t0001 | g0141 | EAS | KHV | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| HG02071 | hp1 | a0001 | c0001 | t0001 | g0147 | EAS | KHV | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| HG02074 | hp1 | a0001 | c0001 | t0001 | g0173 | EAS | KHV | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| HG02083 | hp1 | a0001 | c0001 | t0001 | g0099 | EAS | KHV | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| HG02129 | hp1 | a0001 | c0001 | t0001 | g0100 | EAS | KHV | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| HG02132 | hp1 | a0001 | c0001 | t0001 | g0169 | EAS | KHV | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| HG02135 | hp1 | a0001 | c0011 | t0001 | g0131 | EAS | KHV | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| HG02145 | hp1 | a0001 | c0002 | t0002 | g0045 | AFR | ACB | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| HG02165 | hp1 | a0001 | c0001 | t0001 | g0091 | EAS | CDX | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| HG02165 | hp2 | a0001 | c0001 | t0001 | g0179 | EAS | CDX | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| HG02257 | hp1 | a0001 | c0002 | t0002 | g0036 | AFR | ACB | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| HG02257 | hp2 | a0001 | c0002 | t0002 | g0040 | AFR | ACB | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| HG02258 | hp1 | a0001 | c0003 | t0001 | g0019 | AFR | ACB | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| HG02273 | hp1 | a0007 | c0012 | t0002 | g0077 | AMR | PEL | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| HG02273 | hp2 | a0001 | c0001 | t0001 | g0114 | AMR | PEL | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| HG02280 | hp1 | a0001 | c0002 | t0003 | g0032 | AFR | ACB | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| HG02280 | hp2 | a0001 | c0002 | t0001 | g0043 | AFR | ACB | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| HG02451 | hp1 | a0001 | c0003 | t0001 | g0020 | AFR | ACB | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| HG02451 | hp2 | a0001 | c0002 | t0002 | g0041 | AFR | ACB | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| HG02572 | hp1 | a0001 | c0002 | t0001 | g0046 | AFR | GWD | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| HG02602 | hp1 | a0001 | c0001 | t0001 | g0205 | SAS | PJL | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| HG02615 | hp1 | a0001 | c0001 | t0001 | g0117 | AFR | GWD | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| HG02615 | hp2 | a0001 | c0010 | t0001 | g0080 | AFR | GWD | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| HG02622 | hp1 | a0001 | c0003 | t0001 | g0017 | AFR | GWD | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| HG02622 | hp2 | a0001 | c0003 | t0001 | g0029 | AFR | GWD | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| HG02630 | hp1 | a0001 | c0002 | t0001 | g0023 | AFR | GWD | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| HG02630 | hp2 | a0001 | c0002 | t0002 | g0011 | AFR | GWD | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| HG02647 | hp1 | a0001 | c0003 | t0002 | g0211 | AFR | GWD | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| HG02698 | hp1 | a0001 | c0001 | t0001 | g0198 | SAS | PJL | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| HG02717 | hp1 | a0001 | c0003 | t0002 | g0016 | AFR | GWD | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| HG02723 | hp1 | a0001 | c0002 | t0001 | g0025 | AFR | GWD | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| HG02723 | hp2 | a0001 | c0002 | t0002 | g0044 | AFR | GWD | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| HG02735 | hp1 | a0001 | c0001 | t0001 | g0207 | SAS | PJL | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| HG02738 | hp1 | a0001 | c0001 | t0001 | g0144 | SAS | PJL | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| HG02809 | hp1 | a0008 | c0014 | t0001 | g0079 | AFR | GWD | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| HG02809 | hp2 | a0002 | c0004 | t0002 | g0013 | AFR | GWD | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| HG02886 | hp1 | a0001 | c0002 | t0002 | g0039 | AFR | GWD | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| HG02886 | hp2 | a0001 | c0002 | t0001 | g0215 | AFR | GWD | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| HG02895 | hp1 | a0001 | c0002 | t0002 | g0051 | AFR | GWD | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| HG02896 | hp1 | a0001 | c0003 | t0002 | g0007 | AFR | GWD | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| HG02896 | hp2 | a0001 | c0002 | t0001 | g0024 | AFR | GWD | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| HG02922 | hp1 | a0001 | c0003 | t0001 | g0030 | AFR | ESN | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| HG02922 | hp2 | a0001 | c0002 | t0003 | g0034 | AFR | ESN | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| HG02965 | hp1 | a0001 | c0002 | t0002 | g0073 | AFR | ESN | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| HG02970 | hp1 | a0002 | c0004 | t0002 | g0015 | AFR | ESN | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| HG02970 | hp2 | a0001 | c0002 | t0002 | g0049 | AFR | ESN | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| HG02976 | hp1 | a0001 | c0002 | t0002 | g0050 | AFR | ESN | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| HG02976 | hp2 | a0001 | c0003 | t0001 | g0018 | AFR | ESN | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| HG03017 | hp1 | a0001 | c0001 | t0001 | g0202 | SAS | PJL | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| HG03041 | hp1 | a0001 | c0003 | t0002 | g0026 | AFR | GWD | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| HG03041 | hp2 | a0001 | c0001 | t0001 | g0116 | AFR | GWD | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| HG03098 | hp1 | a0001 | c0003 | t0001 | g0028 | AFR | MSL | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| HG03130 | hp1 | a0001 | c0003 | t0001 | g0081 | AFR | ESN | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| HG03139 | hp1 | a0001 | c0002 | t0002 | g0072 | AFR | ESN | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| HG03195 | hp1 | a0001 | c0002 | t0002 | g0074 | AFR | ESN | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| HG03195 | hp2 | a0001 | c0002 | t0002 | g0009 | AFR | ESN | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| HG03209 | hp1 | a0001 | c0002 | t0002 | g0038 | AFR | MSL | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| HG03225 | hp1 | a0001 | c0002 | t0002 | g0076 | AFR | MSL | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| HG03490 | hp1 | a0001 | c0001 | t0001 | g0200 | SAS | PJL | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| HG03492 | hp1 | a0001 | c0002 | t0002 | g0217 | SAS | PJL | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| HG03516 | hp1 | a0001 | c0002 | t0002 | g0075 | AFR | ESN | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| HG03516 | hp2 | a0001 | c0002 | t0002 | g0037 | AFR | ESN | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| HG03540 | hp1 | a0001 | c0002 | t0001 | g0022 | AFR | GWD | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| HG03540 | hp2 | a0001 | c0002 | t0002 | g0054 | AFR | GWD | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| HG03579 | hp1 | a0001 | c0002 | t0002 | g0053 | AFR | MSL | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| HG03654 | hp1 | a0001 | c0001 | t0001 | g0154 | SAS | PJL | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| HG03688 | hp1 | a0001 | c0001 | t0001 | g0192 | SAS | STU | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| HG03710 | hp1 | a0001 | c0001 | t0001 | g0191 | SAS | PJL | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| HG03834 | hp1 | a0001 | c0001 | t0001 | g0112 | SAS | BEB | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| HG03834 | hp2 | a0001 | c0002 | t0002 | g0216 | SAS | BEB | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| HG03942 | hp1 | a0001 | c0001 | t0001 | g0206 | SAS | BEB | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| HG04115 | hp1 | a0001 | c0001 | t0001 | g0152 | SAS | STU | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| HG04199 | hp1 | a0001 | c0002 | t0002 | g0060 | SAS | STU | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| HG04204 | hp1 | a0001 | c0001 | t0001 | g0182 | SAS | STU | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| HG04228 | hp1 | a0001 | c0001 | t0001 | g0108 | SAS | STU | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| NA18522 | hp1 | a0001 | c0002 | t0002 | g0033 | AFR | YRI | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| NA18612 | hp1 | a0001 | c0001 | t0001 | g0118 | EAS | CHB | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| NA18747 | hp1 | a0001 | c0001 | t0001 | g0005 | EAS | CHB | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| NA18906 | hp1 | a0001 | c0003 | t0001 | g0031 | AFR | YRI | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| NA18906 | hp2 | a0001 | c0002 | t0002 | g0055 | AFR | YRI | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| NA18940 | hp1 | a0001 | c0001 | t0001 | g0133 | EAS | JPT | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| NA18943 | hp1 | a0001 | c0001 | t0001 | g0086 | EAS | JPT | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| NA18944 | hp1 | a0001 | c0001 | t0001 | g0157 | EAS | JPT | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| NA18945 | hp1 | a0001 | c0001 | t0001 | g0109 | EAS | JPT | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| NA18948 | hp1 | a0001 | c0001 | t0001 | g0132 | EAS | JPT | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| NA18949 | hp1 | a0001 | c0001 | t0001 | g0168 | EAS | JPT | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| NA18949 | hp2 | a0001 | c0001 | t0001 | g0122 | EAS | JPT | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| NA18952 | hp1 | a0003 | c0006 | t0001 | g0083 | EAS | JPT | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| NA18953 | hp1 | a0001 | c0001 | t0001 | g0097 | EAS | JPT | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| NA18959 | hp1 | a0003 | c0006 | t0001 | g0084 | EAS | JPT | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| NA18960 | hp1 | a0001 | c0001 | t0001 | g0213 | EAS | JPT | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| NA18961 | hp1 | a0001 | c0001 | t0001 | g0127 | EAS | JPT | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| NA18962 | hp1 | a0001 | c0001 | t0001 | g0103 | EAS | JPT | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| NA18965 | hp1 | a0001 | c0001 | t0001 | g0106 | EAS | JPT | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| NA18966 | hp1 | a0001 | c0001 | t0001 | g0130 | EAS | JPT | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| NA18967 | hp1 | a0001 | c0001 | t0001 | g0194 | EAS | JPT | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| NA18970 | hp1 | a0001 | c0001 | t0001 | g0190 | EAS | JPT | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| NA18971 | hp1 | a0001 | c0001 | t0001 | g0146 | EAS | JPT | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| NA18974 | hp1 | a0001 | c0001 | t0001 | g0102 | EAS | JPT | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| NA18977 | hp1 | a0001 | c0001 | t0001 | g0184 | EAS | JPT | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| NA18982 | hp1 | a0001 | c0001 | t0001 | g0089 | EAS | JPT | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| NA18983 | hp1 | a0009 | c0009 | t0001 | g0160 | EAS | JPT | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| NA18984 | hp1 | a0004 | c0007 | t0001 | g0167 | EAS | JPT | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| NA18986 | hp1 | a0001 | c0001 | t0001 | g0159 | EAS | JPT | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| NA18988 | hp1 | a0001 | c0001 | t0001 | g0088 | EAS | JPT | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| NA18989 | hp1 | a0001 | c0001 | t0001 | g0177 | EAS | JPT | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| NA18990 | hp1 | a0001 | c0001 | t0001 | g0126 | EAS | JPT | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| NA18994 | hp1 | a0001 | c0001 | t0001 | g0004 | EAS | JPT | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| NA18995 | hp1 | a0001 | c0001 | t0001 | g0093 | EAS | JPT | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| NA19000 | hp1 | a0001 | c0001 | t0001 | g0212 | EAS | JPT | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| NA19004 | hp1 | a0001 | c0001 | t0001 | g0096 | EAS | JPT | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| NA19005 | hp1 | a0001 | c0001 | t0001 | g0090 | EAS | JPT | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| NA19006 | hp1 | a0001 | c0001 | t0001 | g0151 | EAS | JPT | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| NA19007 | hp1 | a0001 | c0001 | t0001 | g0214 | EAS | JPT | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| NA19009 | hp1 | a0004 | c0007 | t0001 | g0166 | EAS | JPT | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| NA19012 | hp1 | a0001 | c0001 | t0001 | g0003 | EAS | JPT | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| NA19030 | hp1 | a0001 | c0002 | t0002 | g0071 | AFR | LWK | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| NA19030 | hp2 | a0001 | c0002 | t0002 | g0069 | AFR | LWK | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| NA19043 | hp1 | a0001 | c0003 | t0002 | g0082 | AFR | LWK | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| NA19055 | hp1 | a0005 | c0005 | t0001 | g0185 | EAS | JPT | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| NA19056 | hp1 | a0001 | c0001 | t0001 | g0107 | EAS | JPT | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| NA19058 | hp1 | a0001 | c0001 | t0001 | g0121 | EAS | JPT | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| NA19060 | hp1 | a0001 | c0001 | t0001 | g0124 | EAS | JPT | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| NA19062 | hp1 | a0001 | c0001 | t0001 | g0143 | EAS | JPT | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| NA19063 | hp1 | a0001 | c0001 | t0001 | g0105 | EAS | JPT | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| NA19066 | hp1 | a0001 | c0001 | t0001 | g0186 | EAS | JPT | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| NA19067 | hp1 | a0001 | c0001 | t0001 | g0104 | EAS | JPT | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| NA19068 | hp1 | a0001 | c0001 | t0001 | g0195 | EAS | JPT | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| NA19070 | hp1 | a0001 | c0001 | t0001 | g0123 | EAS | JPT | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| NA19072 | hp1 | a0001 | c0001 | t0001 | g0183 | EAS | JPT | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| NA19075 | hp1 | a0001 | c0001 | t0001 | g0085 | EAS | JPT | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| NA19076 | hp1 | a0001 | c0001 | t0001 | g0142 | EAS | JPT | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| NA19079 | hp1 | a0001 | c0001 | t0001 | g0150 | EAS | JPT | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| NA19082 | hp1 | a0001 | c0001 | t0001 | g0187 | EAS | JPT | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| NA19083 | hp1 | a0001 | c0001 | t0001 | g0158 | EAS | JPT | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| NA19085 | hp1 | a0005 | c0005 | t0001 | g0193 | EAS | JPT | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| NA19086 | hp1 | a0001 | c0001 | t0001 | g0129 | EAS | JPT | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| NA19088 | hp1 | a0001 | c0001 | t0001 | g0176 | EAS | JPT | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| NA19089 | hp1 | a0001 | c0001 | t0001 | g0094 | EAS | JPT | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| NA19091 | hp1 | a0001 | c0001 | t0001 | g0087 | EAS | JPT | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| NA20129 | hp1 | a0001 | c0013 | t0002 | g0208 | AFR | ASW | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| NA20129 | hp2 | a0001 | c0002 | t0002 | g0052 | AFR | ASW | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| NA20752 | hp1 | a0001 | c0001 | t0001 | g0111 | EUR | TSI | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| NA20805 | hp1 | a0001 | c0001 | t0001 | g0145 | EUR | TSI | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| NA20905 | hp1 | a0001 | c0001 | t0001 | g0175 | SAS | GIH | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| HG02109 | hp1 | a0001 | c0002 | t0002 | g0048 | AFR | ACB | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| HG02109 | hp2 | a0001 | c0003 | t0001 | g0027 | AFR | ACB | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| HG02486 | hp1 | a0001 | c0003 | t0001 | g0002 | AFR | ACB | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| HG03471 | hp1 | a0001 | c0003 | t0001 | g0021 | AFR | MSL | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| NA18955 | hp1 | a0001 | c0001 | t0001 | g0110 | EAS | JPT | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| NA20300 | hp1 | a0001 | c0003 | t0002 | g0012 | AFR | USA | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| NA20300 | hp2 | a0001 | c0001 | t0001 | g0140 | AFR | USA | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| homoSapiens | chm13v2 | a0001 | c0001 | t0001 | g0199 | REF | REF | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| homoSapiens | grch38p0 | a0001 | c0001 | t0001 | g0197 | REF | REF | HEPH_chrX_66159247_66272389 | HEPH | chrX | 66159247 | 66272389 |
| 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:66170713 | C | T | 1 | a0004 | 2 | NA18984.hp1 NA19009.hp1 |
missense_variant | MODERATE | c.143C>T | p.Thr48Met | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 2/21 | 380/4431 | 143/3477 | 48/1158 | chrX | 66170713 | |||
| chrX:66197814 | C | T | 1 | a0008 | 1 | HG02809.hp1 | missense_variant | MODERATE | c.1633C>T | p.Pro545Ser | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 10/21 | 1870/4431 | 1633/3477 | 545/1158 | chrX | 66197814 | |||
| chrX:66197877 | G | A | 1 | a0006 | 1 | HG00280.hp1 | missense_variant | MODERATE | c.1696G>A | p.Gly566Ser | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 10/21 | 1933/4431 | 1696/3477 | 566/1158 | chrX | 66197877 | |||
| chrX:66200691 | G | C | 1 | a0009 | 1 | NA18983.hp1 | missense_variant | MODERATE | c.2016G>C | p.Lys672Asn | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 12/21 | 2253/4431 | 2016/3477 | 672/1158 | chrX | 66200691 | |||
| chrX:66203468 | C | T | 1 | a0007 | 1 | HG02273.hp1 | missense_variant | MODERATE | c.2182C>T | p.Arg728Cys | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 13/21 | 2419/4431 | 2182/3477 | 728/1158 | chrX | 66203468 | |||
| chrX:66255070 | A | T | 1 | a0002 | 3 | HG01891.hp1 HG02809.hp2 HG02970.hp1 |
missense_variant | MODERATE | c.2599A>T | p.Arg867Trp | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 16/21 | 2836/4431 | 2599/3477 | 867/1158 | chrX | 66255070 | |||
| chrX:66256156 | C | G | 1 | a0003 | 2 | NA18952.hp1 NA18959.hp1 |
missense_variant | MODERATE | c.2722C>G | p.Leu908Val | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 17/21 | 2959/4431 | 2722/3477 | 908/1158 | chrX | 66256156 | |||
| chrX:66260173 | G | C | 1 | a0005 | 2 | NA19055.hp1 NA19085.hp1 |
missense_variant | MODERATE | c.3110G>C | p.Ser1037Thr | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 19/21 | 3347/4431 | 3110/3477 | 1037/1158 | chrX | 66260173 |
| 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:66200649 | C | T | 1 | a0001c0013 | 1 | NA20129.hp1 | synonymous_variant | LOW | c.1974C>T | p.Val658Val | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 12/21 | 2211/4431 | 1974/3477 | 658/1158 | chrX | 66200649 | |||
| chrX:66207198 | T | C | 7 | a0001c0002 a0001c0003 a0001c0010 others(4): Show |
87 | HG00099.hp2 HG00733.hp1 HG00735.hp1 others(84): Show |
synonymous_variant | LOW | c.2295T>C | p.Tyr765Tyr | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 14/21 | 2532/4431 | 2295/3477 | 765/1158 | chrX | 66207198 | |||
| chrX:66207282 | A | G | 2 | a0001c0002 a0007c0012 |
57 | HG00099.hp2 HG00733.hp1 HG00741.hp1 others(54): Show |
synonymous_variant | LOW | c.2379A>G | p.Thr793Thr | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 14/21 | 2616/4431 | 2379/3477 | 793/1158 | chrX | 66207282 | |||
| chrX:66255096 | T | C | 1 | a0001c0011 | 1 | HG02135.hp1 | synonymous_variant | LOW | c.2625T>C | p.Ser875Ser | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 16/21 | 2862/4431 | 2625/3477 | 875/1158 | chrX | 66255096 | |||
| chrX:66258910 | C | T | 1 | a0001c0010 | 1 | HG02615.hp2 | synonymous_variant | LOW | c.2967C>T | p.Tyr989Tyr | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 18/21 | 3204/4431 | 2967/3477 | 989/1158 | chrX | 66258910 | |||
| chrX:66260132 | T | C | 1 | a0005c0005 | 2 | NA19055.hp1 NA19085.hp1 |
synonymous_variant | LOW | c.3069T>C | p.Asp1023Asp | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 19/21 | 3306/4431 | 3069/3477 | 1023/1158 | chrX | 66260132 |
| 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:66164321 | C | T | 7 | a0001c0001t0002 a0001c0002t0002 a0001c0002t0003 others(4): Show |
60 | HG00099.hp2 HG00673.hp1 HG00733.hp1 others(57): Show |
5_prime_UTR_variant | MODIFIER | c.-163C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 1/21 | 6250 | chrX | 66164321 | ||||||
| chrX:66266806 | G | A | 1 | a0001c0002t0003 | 2 | HG02280.hp1 HG02922.hp2 |
3_prime_UTR_variant | MODIFIER | c.*134G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 21/21 | 134 | chrX | 66266806 |
| 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:66164681 | C | T | 2 | a0001c0002t0002g0216 a0001c0002t0002g0217 |
2 | HG03492.hp1 HG03834.hp2 |
intron_variant | MODIFIER | c.-14+211C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 1/20 | chrX | 66164681 | |||||||
| chrX:66164749 | C | T | 1 | a0001c0002t0001g0215 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.-14+279C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 1/20 | chrX | 66164749 | |||||||
| chrX:66165144 | T | C | 1 | a0001c0003t0001g0002 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.-14+674T>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 1/20 | chrX | 66165144 | |||||||
| chrX:66165493 | C | G | 3 | a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 |
3 | NA18960.hp1 NA19000.hp1 NA19007.hp1 |
intron_variant | MODIFIER | c.-14+1023C>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 1/20 | chrX | 66165493 | |||||||
| chrX:66166297 | G | A | 3 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 |
3 | NA18747.hp1 NA18994.hp1 NA19012.hp1 |
intron_variant | MODIFIER | c.-14+1827G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 1/20 | chrX | 66166297 | |||||||
| chrX:66166803 | C | G | 4 | a0001c0003t0002g0209 a0001c0003t0002g0210 a0001c0003t0002g0211 others(1): Show |
4 | HG00738.hp1 HG01081.hp1 HG02647.hp1 others(1): Show |
intron_variant | MODIFIER | c.-14+2333C>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 1/20 | chrX | 66166803 | |||||||
| chrX:66166827 | T | A | 86 | a0001c0002t0001g0006 a0001c0002t0001g0022 a0001c0002t0001g0023 others(83): Show |
87 | HG00099.hp2 HG00733.hp1 HG00735.hp1 others(84): Show |
intron_variant | MODIFIER | c.-14+2357T>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 1/20 | chrX | 66166827 | |||||||
| chrX:66166904 | A | G | 3 | a0001c0003t0001g0081 a0001c0003t0002g0082 a0001c0010t0001g0080 |
3 | HG02615.hp2 HG03130.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.-14+2434A>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 1/20 | chrX | 66166904 | |||||||
| chrX:66167425 | G | A | 85 | a0001c0002t0001g0006 a0001c0002t0001g0022 a0001c0002t0001g0023 others(82): Show |
86 | HG00099.hp2 HG00733.hp1 HG00735.hp1 others(83): Show |
intron_variant | MODIFIER | c.-14+2955G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 1/20 | chrX | 66167425 | |||||||
| chrX:66167489 | G | A | 1 | a0001c0002t0001g0006 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.-14+3019G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 1/20 | chrX | 66167489 | |||||||
| chrX:66167543 | G | A | 3 | a0001c0003t0001g0081 a0001c0003t0002g0082 a0001c0010t0001g0080 |
3 | HG02615.hp2 HG03130.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.-13-3015G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 1/20 | chrX | 66167543 | |||||||
| chrX:66167632 | A | G | 1 | a0001c0003t0001g0078 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.-13-2926A>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 1/20 | chrX | 66167632 | |||||||
| chrX:66168151 | CAGTA | C | 4 | a0001c0003t0002g0209 a0001c0003t0002g0210 a0001c0003t0002g0211 others(1): Show |
4 | HG00738.hp1 HG01081.hp1 HG02647.hp1 others(1): Show |
intron_variant | MODIFIER | c.-13-2402_-13-2399d others(6): Show |
HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chrX | 66168151 | ||||||
| chrX:66168406 | G | C | 3 | a0001c0001t0001g0085 a0003c0006t0001g0083 a0003c0006t0001g0084 |
3 | NA18952.hp1 NA18959.hp1 NA19075.hp1 |
intron_variant | MODIFIER | c.-13-2152G>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 1/20 | chrX | 66168406 | |||||||
| chrX:66168501 | G | A | 1 | a0001c0001t0001g0086 | 1 | NA18943.hp1 | intron_variant | MODIFIER | c.-13-2057G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 1/20 | chrX | 66168501 | |||||||
| chrX:66168715 | A | T | 86 | a0001c0002t0001g0006 a0001c0002t0001g0022 a0001c0002t0001g0023 others(83): Show |
87 | HG00099.hp2 HG00733.hp1 HG00735.hp1 others(84): Show |
intron_variant | MODIFIER | c.-13-1843A>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 1/20 | chrX | 66168715 | |||||||
| chrX:66168743 | A | G | 86 | a0001c0002t0001g0006 a0001c0002t0001g0022 a0001c0002t0001g0023 others(83): Show |
87 | HG00099.hp2 HG00733.hp1 HG00735.hp1 others(84): Show |
intron_variant | MODIFIER | c.-13-1815A>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 1/20 | chrX | 66168743 | |||||||
| chrX:66168836 | C | T | 50 | a0001c0002t0001g0006 a0001c0002t0001g0043 a0001c0002t0001g0046 others(47): Show |
50 | HG00099.hp2 HG00733.hp1 HG00741.hp1 others(47): Show |
intron_variant | MODIFIER | c.-13-1722C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 1/20 | chrX | 66168836 | |||||||
| chrX:66168962 | T | G | 3 | a0001c0003t0001g0081 a0001c0003t0002g0082 a0001c0010t0001g0080 |
3 | HG02615.hp2 HG03130.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.-13-1596T>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 1/20 | chrX | 66168962 | |||||||
| chrX:66168984 | T | C | 3 | a0001c0003t0001g0081 a0001c0003t0002g0082 a0001c0010t0001g0080 |
3 | HG02615.hp2 HG03130.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.-13-1574T>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 1/20 | chrX | 66168984 | |||||||
| chrX:66169068 | C | A | 7 | a0001c0002t0002g0033 a0001c0002t0002g0035 a0001c0002t0002g0036 others(4): Show |
7 | HG01884.hp2 HG02257.hp1 HG02280.hp1 others(4): Show |
intron_variant | MODIFIER | c.-13-1490C>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 1/20 | chrX | 66169068 | |||||||
| chrX:66169114 | C | A | 1 | a0001c0001t0001g0087 | 1 | NA19091.hp1 | intron_variant | MODIFIER | c.-13-1444C>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 1/20 | chrX | 66169114 | |||||||
| chrX:66169491 | G | A | 2 | a0001c0003t0002g0007 a0001c0003t0002g0008 |
2 | HG00735.hp1 HG02896.hp1 |
intron_variant | MODIFIER | c.-13-1067G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 1/20 | chrX | 66169491 | |||||||
| chrX:66169544 | A | G | 1 | a0001c0001t0001g0207 | 1 | HG02735.hp1 | intron_variant | MODIFIER | c.-13-1014A>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 1/20 | chrX | 66169544 | |||||||
| chrX:66169894 | C | A | 3 | a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 |
3 | NA18960.hp1 NA19000.hp1 NA19007.hp1 |
intron_variant | MODIFIER | c.-13-664C>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 1/20 | chrX | 66169894 | |||||||
| chrX:66170088 | T | C | 53 | a0001c0002t0001g0006 a0001c0002t0001g0043 a0001c0002t0001g0046 others(50): Show |
53 | HG00099.hp2 HG00733.hp1 HG00741.hp1 others(50): Show |
intron_variant | MODIFIER | c.-13-470T>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 1/20 | chrX | 66170088 | |||||||
| chrX:66170090 | G | A | 53 | a0001c0002t0001g0006 a0001c0002t0001g0043 a0001c0002t0001g0046 others(50): Show |
53 | HG00099.hp2 HG00733.hp1 HG00741.hp1 others(50): Show |
intron_variant | MODIFIER | c.-13-468G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 1/20 | chrX | 66170090 | |||||||
| chrX:66170237 | G | C | 3 | a0001c0001t0001g0085 a0003c0006t0001g0083 a0003c0006t0001g0084 |
3 | NA18952.hp1 NA18959.hp1 NA19075.hp1 |
intron_variant | MODIFIER | c.-13-321G>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 1/20 | chrX | 66170237 | |||||||
| chrX:66170453 | T | C | 1 | a0001c0001t0001g0087 | 1 | NA19091.hp1 | intron_variant | MODIFIER | c.-13-105T>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 1/20 | chrX | 66170453 | |||||||
| chrX:66170505 | C | T | 2 | a0001c0002t0002g0037 a0001c0002t0002g0038 |
2 | HG03209.hp1 HG03516.hp2 |
intron_variant | MODIFIER | c.-13-53C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 1/20 | chrX | 66170505 | |||||||
| chrX:66170751 | C | A | 11 | a0001c0003t0001g0017 a0001c0003t0001g0018 a0001c0003t0001g0019 others(8): Show |
11 | HG00735.hp1 HG01891.hp1 HG02258.hp1 others(8): Show |
intron_variant | MODIFIER | c.167+14C>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 2/20 | chrX | 66170751 | |||||||
| chrX:66170776 | G | A | 1 | a0001c0001t0001g0088 | 1 | NA18988.hp1 | intron_variant | MODIFIER | c.167+39G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 2/20 | chrX | 66170776 | |||||||
| chrX:66170893 | A | C | 1 | a0001c0003t0001g0031 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.167+156A>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 2/20 | chrX | 66170893 | |||||||
| chrX:66170992 | C | T | 7 | a0001c0003t0001g0027 a0001c0003t0001g0028 a0001c0003t0001g0029 others(4): Show |
7 | HG02055.hp1 HG02109.hp2 HG02622.hp2 others(4): Show |
intron_variant | MODIFIER | c.167+255C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 2/20 | chrX | 66170992 | |||||||
| chrX:66171124 | C | A | 71 | a0001c0002t0001g0006 a0001c0002t0001g0022 a0001c0002t0001g0023 others(68): Show |
72 | HG00099.hp2 HG00733.hp1 HG00735.hp1 others(69): Show |
intron_variant | MODIFIER | c.167+387C>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 2/20 | chrX | 66171124 | |||||||
| chrX:66171196 | T | C | 4 | a0001c0003t0002g0209 a0001c0003t0002g0210 a0001c0003t0002g0211 others(1): Show |
4 | HG00738.hp1 HG01081.hp1 HG02647.hp1 others(1): Show |
intron_variant | MODIFIER | c.167+459T>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 2/20 | chrX | 66171196 | |||||||
| chrX:66171356 | G | T | 3 | a0001c0003t0001g0081 a0001c0003t0002g0082 a0001c0010t0001g0080 |
3 | HG02615.hp2 HG03130.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.167+619G>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 2/20 | chrX | 66171356 | |||||||
| chrX:66171621 | A | G | 1 | a0001c0001t0001g0206 | 1 | HG03942.hp1 | intron_variant | MODIFIER | c.168-734A>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 2/20 | chrX | 66171621 | |||||||
| chrX:66171674 | G | A | 1 | a0001c0002t0002g0039 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.168-681G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 2/20 | chrX | 66171674 | |||||||
| chrX:66171788 | C | T | 1 | a0008c0014t0001g0079 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.168-567C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 2/20 | chrX | 66171788 | |||||||
| chrX:66171799 | AT | A | 53 | a0001c0001t0001g0089 a0001c0002t0001g0006 a0001c0002t0001g0043 others(50): Show |
53 | HG00099.hp2 HG00733.hp1 HG00741.hp1 others(50): Show |
intron_variant | MODIFIER | c.168-544delT | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chrX | 66171799 | ||||||
| chrX:66171894 | G | T | 1 | a0001c0001t0001g0205 | 1 | HG02602.hp1 | intron_variant | MODIFIER | c.168-461G>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 2/20 | chrX | 66171894 | |||||||
| chrX:66172339 | T | C | 74 | a0001c0002t0001g0006 a0001c0002t0001g0022 a0001c0002t0001g0023 others(71): Show |
75 | HG00099.hp2 HG00733.hp1 HG00735.hp1 others(72): Show |
intron_variant | MODIFIER | c.168-16T>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 2/20 | chrX | 66172339 | |||||||
| chrX:66172725 | A | G | 2 | a0001c0001t0001g0203 a0001c0001t0001g0204 |
2 | HG01070.hp2 HG01074.hp1 |
intron_variant | MODIFIER | c.412+126A>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 3/20 | chrX | 66172725 | |||||||
| chrX:66172780 | C | T | 1 | a0001c0001t0001g0202 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.412+181C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 3/20 | chrX | 66172780 | |||||||
| chrX:66172794 | C | A | 71 | a0001c0002t0001g0006 a0001c0002t0001g0022 a0001c0002t0001g0023 others(68): Show |
72 | HG00099.hp2 HG00733.hp1 HG00735.hp1 others(69): Show |
intron_variant | MODIFIER | c.412+195C>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 3/20 | chrX | 66172794 | |||||||
| chrX:66173100 | T | C | 3 | a0001c0002t0002g0040 a0001c0002t0002g0041 a0001c0002t0002g0042 |
3 | HG01884.hp1 HG02257.hp2 HG02451.hp2 |
intron_variant | MODIFIER | c.413-489T>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 3/20 | chrX | 66173100 | |||||||
| chrX:66173263 | G | A | 3 | a0001c0003t0001g0081 a0001c0003t0002g0082 a0001c0010t0001g0080 |
3 | HG02615.hp2 HG03130.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.413-326G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 3/20 | chrX | 66173263 | |||||||
| chrX:66173962 | AT | A | 66 | a0001c0002t0001g0006 a0001c0002t0001g0022 a0001c0002t0001g0023 others(63): Show |
67 | HG00099.hp2 HG00733.hp1 HG00735.hp1 others(64): Show |
intron_variant | MODIFIER | c.625+172delT | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | INFO_REALIGN_3_PRIME | chrX | 66173962 | ||||||
| chrX:66173982 | A | T | 2 | a0001c0003t0001g0081 a0001c0003t0002g0082 |
2 | HG03130.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.625+181A>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66173982 | |||||||
| chrX:66174016 | A | T | 2 | a0001c0002t0002g0035 a0001c0002t0002g0036 |
2 | HG01884.hp2 HG02257.hp1 |
intron_variant | MODIFIER | c.625+215A>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66174016 | |||||||
| chrX:66174073 | G | C | 178 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(175): Show |
179 | HG00099.hp2 HG00280.hp1 HG00597.hp1 others(176): Show |
intron_variant | MODIFIER | c.625+272G>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66174073 | |||||||
| chrX:66174163 | C | T | 3 | a0001c0003t0001g0081 a0001c0003t0002g0082 a0001c0010t0001g0080 |
3 | HG02615.hp2 HG03130.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.625+362C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66174163 | |||||||
| chrX:66174232 | C | G | 1 | a0001c0001t0001g0169 | 1 | HG02132.hp1 | intron_variant | MODIFIER | c.625+431C>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66174232 | |||||||
| chrX:66174239 | A | T | 2 | a0001c0003t0001g0081 a0001c0003t0002g0082 |
2 | HG03130.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.625+438A>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66174239 | |||||||
| chrX:66174256 | C | T | 1 | a0001c0001t0001g0168 | 1 | NA18949.hp1 | intron_variant | MODIFIER | c.625+455C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66174256 | |||||||
| chrX:66174373 | G | A | 3 | a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0002g0092 |
3 | HG00673.hp1 HG02165.hp1 NA19005.hp1 |
intron_variant | MODIFIER | c.625+572G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66174373 | |||||||
| chrX:66174379 | A | G | 18 | a0001c0002t0001g0022 a0001c0002t0001g0023 a0001c0002t0001g0024 others(15): Show |
19 | HG00735.hp1 HG01167.hp1 HG01169.hp2 others(16): Show |
intron_variant | MODIFIER | c.625+578A>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66174379 | |||||||
| chrX:66174626 | A | G | 86 | a0001c0002t0001g0006 a0001c0002t0001g0022 a0001c0002t0001g0023 others(83): Show |
87 | HG00099.hp2 HG00733.hp1 HG00735.hp1 others(84): Show |
intron_variant | MODIFIER | c.625+825A>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66174626 | |||||||
| chrX:66174745 | A | G | 1 | a0008c0014t0001g0079 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.625+944A>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66174745 | |||||||
| chrX:66175033 | G | C | 86 | a0001c0002t0001g0006 a0001c0002t0001g0022 a0001c0002t0001g0023 others(83): Show |
87 | HG00099.hp2 HG00733.hp1 HG00735.hp1 others(84): Show |
intron_variant | MODIFIER | c.625+1232G>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66175033 | |||||||
| chrX:66175100 | C | T | 3 | a0001c0003t0001g0081 a0001c0003t0002g0082 a0001c0010t0001g0080 |
3 | HG02615.hp2 HG03130.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.625+1299C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66175100 | |||||||
| chrX:66175464 | T | G | 3 | a0001c0003t0001g0081 a0001c0003t0002g0082 a0001c0010t0001g0080 |
3 | HG02615.hp2 HG03130.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.625+1663T>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66175464 | |||||||
| chrX:66175746 | A | AGTATGTA others(1): Show |
74 | a0001c0002t0001g0006 a0001c0002t0001g0022 a0001c0002t0001g0023 others(71): Show |
75 | HG00099.hp2 HG00733.hp1 HG00735.hp1 others(72): Show |
intron_variant | MODIFIER | c.625+1954_625+1961d others(10): Show |
HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | INFO_REALIGN_3_PRIME | chrX | 66175746 | ||||||
| chrX:66175837 | A | G | 1 | a0008c0014t0001g0079 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.625+2036A>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66175837 | |||||||
| chrX:66175952 | G | C | 3 | a0001c0003t0001g0081 a0001c0003t0002g0082 a0001c0010t0001g0080 |
3 | HG02615.hp2 HG03130.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.625+2151G>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66175952 | |||||||
| chrX:66176112 | T | G | 1 | a0001c0002t0001g0043 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.625+2311T>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66176112 | |||||||
| chrX:66176477 | C | T | 16 | a0001c0002t0001g0022 a0001c0002t0001g0023 a0001c0002t0001g0024 others(13): Show |
16 | HG00735.hp1 HG01891.hp1 HG02258.hp1 others(13): Show |
intron_variant | MODIFIER | c.625+2676C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66176477 | |||||||
| chrX:66176693 | C | T | 3 | a0001c0003t0001g0018 a0001c0003t0001g0019 a0001c0003t0001g0020 |
3 | HG02258.hp1 HG02451.hp1 HG02976.hp2 |
intron_variant | MODIFIER | c.625+2892C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66176693 | |||||||
| chrX:66176745 | C | T | 71 | a0001c0002t0001g0006 a0001c0002t0001g0022 a0001c0002t0001g0023 others(68): Show |
72 | HG00099.hp2 HG00733.hp1 HG00735.hp1 others(69): Show |
intron_variant | MODIFIER | c.625+2944C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66176745 | |||||||
| chrX:66176762 | G | A | 3 | a0001c0003t0001g0081 a0001c0003t0002g0082 a0001c0010t0001g0080 |
3 | HG02615.hp2 HG03130.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.625+2961G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66176762 | |||||||
| chrX:66177044 | A | C | 18 | a0001c0002t0001g0022 a0001c0002t0001g0023 a0001c0002t0001g0024 others(15): Show |
19 | HG00735.hp1 HG01167.hp1 HG01169.hp2 others(16): Show |
intron_variant | MODIFIER | c.625+3243A>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66177044 | |||||||
| chrX:66177169 | A | G | 12 | a0001c0003t0001g0027 a0001c0003t0001g0028 a0001c0003t0001g0029 others(9): Show |
12 | HG00738.hp1 HG01081.hp1 HG02055.hp1 others(9): Show |
intron_variant | MODIFIER | c.625+3368A>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66177169 | |||||||
| chrX:66177254 | G | C | 2 | a0001c0001t0001g0093 a0001c0001t0001g0094 |
2 | NA18995.hp1 NA19089.hp1 |
intron_variant | MODIFIER | c.625+3453G>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66177254 | |||||||
| chrX:66177267 | T | A | 1 | a0001c0002t0003g0032 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.625+3466T>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66177267 | |||||||
| chrX:66177334 | T | C | 2 | a0001c0001t0001g0170 a0001c0001t0001g0171 |
2 | HG00741.hp2 HG01515.hp1 |
intron_variant | MODIFIER | c.625+3533T>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66177334 | |||||||
| chrX:66177583 | T | C | 1 | a0001c0013t0002g0208 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.625+3782T>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66177583 | |||||||
| chrX:66177744 | C | T | 2 | a0004c0007t0001g0166 a0004c0007t0001g0167 |
2 | NA18984.hp1 NA19009.hp1 |
intron_variant | MODIFIER | c.625+3943C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66177744 | |||||||
| chrX:66177843 | T | C | 4 | a0001c0003t0002g0209 a0001c0003t0002g0210 a0001c0003t0002g0211 others(1): Show |
4 | HG00738.hp1 HG01081.hp1 HG02647.hp1 others(1): Show |
intron_variant | MODIFIER | c.625+4042T>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66177843 | |||||||
| chrX:66177844 | G | A | 1 | a0001c0002t0002g0009 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.625+4043G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66177844 | |||||||
| chrX:66177899 | A | G | 5 | a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 others(2): Show |
5 | HG00639.hp1 HG01257.hp2 HG01258.hp1 others(2): Show |
intron_variant | MODIFIER | c.625+4098A>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66177899 | |||||||
| chrX:66177947 | A | AT | 70 | a0001c0002t0001g0006 a0001c0002t0001g0022 a0001c0002t0001g0023 others(67): Show |
71 | HG00099.hp2 HG00733.hp1 HG00735.hp1 others(68): Show |
intron_variant | MODIFIER | c.625+4156dupT | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | INFO_REALIGN_3_PRIME | chrX | 66177947 | ||||||
| chrX:66178186 | C | A | 3 | a0001c0003t0001g0081 a0001c0003t0002g0082 a0001c0010t0001g0080 |
3 | HG02615.hp2 HG03130.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.625+4385C>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66178186 | |||||||
| chrX:66178389 | A | G | 1 | a0001c0001t0001g0201 | 1 | HG00099.hp1 | intron_variant | MODIFIER | c.625+4588A>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66178389 | |||||||
| chrX:66178452 | A | G | 1 | a0001c0001t0001g0200 | 1 | HG03490.hp1 | intron_variant | MODIFIER | c.625+4651A>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66178452 | |||||||
| chrX:66178784 | A | G | 1 | a0001c0002t0002g0071 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.625+4983A>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66178784 | |||||||
| chrX:66178787 | G | A | 3 | a0001c0003t0001g0081 a0001c0003t0002g0082 a0001c0010t0001g0080 |
3 | HG02615.hp2 HG03130.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.625+4986G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66178787 | |||||||
| chrX:66178957 | C | T | 18 | a0001c0002t0001g0043 a0001c0002t0001g0215 a0001c0002t0002g0040 others(15): Show |
18 | HG00099.hp2 HG00733.hp1 HG01169.hp1 others(15): Show |
intron_variant | MODIFIER | c.625+5156C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66178957 | |||||||
| chrX:66178974 | C | T | 11 | a0001c0003t0001g0027 a0001c0003t0001g0028 a0001c0003t0001g0029 others(8): Show |
11 | HG00738.hp1 HG01081.hp1 HG02055.hp1 others(8): Show |
intron_variant | MODIFIER | c.625+5173C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66178974 | |||||||
| chrX:66179097 | T | G | 1 | a0001c0001t0001g0090 | 1 | NA19005.hp1 | intron_variant | MODIFIER | c.625+5296T>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66179097 | |||||||
| chrX:66179211 | G | C | 1 | a0001c0003t0002g0209 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.625+5410G>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66179211 | |||||||
| chrX:66179318 | T | A | 18 | a0001c0002t0001g0022 a0001c0002t0001g0023 a0001c0002t0001g0024 others(15): Show |
19 | HG00735.hp1 HG01167.hp1 HG01169.hp2 others(16): Show |
intron_variant | MODIFIER | c.625+5517T>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66179318 | |||||||
| chrX:66179378 | G | A | 16 | a0001c0002t0001g0022 a0001c0002t0001g0023 a0001c0002t0001g0024 others(13): Show |
16 | HG00735.hp1 HG01891.hp1 HG02258.hp1 others(13): Show |
intron_variant | MODIFIER | c.625+5577G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66179378 | |||||||
| chrX:66179427 | G | A | 2 | a0001c0001t0001g0172 a0001c0001t0001g0173 |
2 | HG02015.hp1 HG02074.hp1 |
intron_variant | MODIFIER | c.625+5626G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66179427 | |||||||
| chrX:66179432 | C | T | 2 | a0001c0001t0001g0159 a0009c0009t0001g0160 |
2 | NA18983.hp1 NA18986.hp1 |
intron_variant | MODIFIER | c.625+5631C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66179432 | |||||||
| chrX:66179457 | T | C | 1 | a0001c0003t0002g0012 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.625+5656T>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66179457 | |||||||
| chrX:66179465 | T | A | 1 | a0001c0003t0002g0012 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.625+5664T>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66179465 | |||||||
| chrX:66179509 | G | A | 3 | a0001c0003t0001g0081 a0001c0003t0002g0082 a0001c0010t0001g0080 |
3 | HG02615.hp2 HG03130.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.625+5708G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66179509 | |||||||
| chrX:66179748 | A | G | 31 | a0001c0002t0001g0006 a0001c0002t0001g0046 a0001c0002t0001g0056 others(28): Show |
31 | HG00741.hp1 HG01081.hp2 HG01192.hp1 others(28): Show |
intron_variant | MODIFIER | c.625+5947A>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66179748 | |||||||
| chrX:66179754 | G | A | 1 | a0001c0001t0001g0095 | 1 | HG01952.hp1 | intron_variant | MODIFIER | c.625+5953G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66179754 | |||||||
| chrX:66180014 | T | A | 3 | a0001c0003t0001g0081 a0001c0003t0002g0082 a0001c0010t0001g0080 |
3 | HG02615.hp2 HG03130.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.625+6213T>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66180014 | |||||||
| chrX:66180279 | G | A | 1 | a0001c0001t0001g0096 | 1 | NA19004.hp1 | intron_variant | MODIFIER | c.625+6478G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66180279 | |||||||
| chrX:66180394 | C | T | 1 | a0001c0002t0002g0070 | 1 | HG00733.hp1 | intron_variant | MODIFIER | c.625+6593C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66180394 | |||||||
| chrX:66180443 | C | T | 2 | a0001c0001t0001g0157 a0001c0001t0001g0158 |
2 | NA18944.hp1 NA19083.hp1 |
intron_variant | MODIFIER | c.625+6642C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66180443 | |||||||
| chrX:66180475 | T | C | 17 | a0001c0002t0001g0046 a0001c0002t0002g0044 a0001c0002t0002g0045 others(14): Show |
17 | HG01255.hp1 HG02109.hp1 HG02145.hp1 others(14): Show |
intron_variant | MODIFIER | c.625+6674T>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66180475 | |||||||
| chrX:66180578 | G | A | 2 | a0001c0002t0002g0010 a0001c0002t0002g0011 |
2 | HG01243.hp1 HG02630.hp2 |
intron_variant | MODIFIER | c.625+6777G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66180578 | |||||||
| chrX:66180626 | C | CT | 20 | a0001c0002t0001g0046 a0001c0002t0002g0044 a0001c0002t0002g0045 others(17): Show |
20 | HG01255.hp1 HG02109.hp1 HG02145.hp1 others(17): Show |
intron_variant | MODIFIER | c.625+6839dupT | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | INFO_REALIGN_3_PRIME | chrX | 66180626 | ||||||
| chrX:66180626 | CT | C | 10 | a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 others(7): Show |
10 | HG01256.hp1 HG01891.hp1 HG01891.hp2 others(7): Show |
intron_variant | MODIFIER | c.625+6839delT | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | INFO_REALIGN_3_PRIME | chrX | 66180626 | ||||||
| chrX:66180650 | A | AT | 6 | a0001c0001t0001g0005 a0001c0001t0001g0153 a0001c0001t0001g0154 others(3): Show |
6 | HG00735.hp2 HG01109.hp1 HG01433.hp1 others(3): Show |
intron_variant | MODIFIER | c.625+6860dupT | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | INFO_REALIGN_3_PRIME | chrX | 66180650 | ||||||
| chrX:66180650 | AT | A | 77 | a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 others(74): Show |
78 | HG00099.hp2 HG00733.hp1 HG00735.hp1 others(75): Show |
intron_variant | MODIFIER | c.625+6860delT | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | INFO_REALIGN_3_PRIME | chrX | 66180650 | ||||||
| chrX:66180692 | AT | A | 182 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(179): Show |
183 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(180): Show |
intron_variant | MODIFIER | c.625+6907delT | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | INFO_REALIGN_3_PRIME | chrX | 66180692 | ||||||
| chrX:66180692 | ATT | A | 30 | a0001c0001t0001g0085 a0001c0001t0001g0103 a0001c0001t0001g0104 others(27): Show |
30 | HG01884.hp2 HG01891.hp1 HG02055.hp1 others(27): Show |
intron_variant | MODIFIER | c.625+6906_625+6907d others(4): Show |
HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | INFO_REALIGN_3_PRIME | chrX | 66180692 | ||||||
| chrX:66180801 | C | T | 1 | a0001c0001t0001g0196 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.625+7000C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66180801 | |||||||
| chrX:66180847 | C | T | 6 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0102 others(3): Show |
6 | HG02615.hp2 HG03130.hp1 NA18974.hp1 others(3): Show |
intron_variant | MODIFIER | c.625+7046C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66180847 | |||||||
| chrX:66180869 | C | T | 1 | a0001c0001t0001g0152 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.625+7068C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66180869 | |||||||
| chrX:66180870 | C | A | 71 | a0001c0002t0001g0006 a0001c0002t0001g0022 a0001c0002t0001g0023 others(68): Show |
72 | HG00099.hp2 HG00733.hp1 HG00735.hp1 others(69): Show |
intron_variant | MODIFIER | c.625+7069C>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66180870 | |||||||
| chrX:66180933 | T | G | 1 | a0001c0001t0001g0108 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.625+7132T>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66180933 | |||||||
| chrX:66180967 | C | T | 3 | a0001c0003t0001g0081 a0001c0003t0002g0082 a0001c0010t0001g0080 |
3 | HG02615.hp2 HG03130.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.625+7166C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66180967 | |||||||
| chrX:66180994 | C | G | 3 | a0001c0003t0001g0081 a0001c0003t0002g0082 a0001c0010t0001g0080 |
3 | HG02615.hp2 HG03130.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.625+7193C>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66180994 | |||||||
| chrX:66181011 | C | A | 1 | a0001c0002t0002g0039 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.625+7210C>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66181011 | |||||||
| chrX:66181012 | T | A | 1 | a0001c0002t0002g0039 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.625+7211T>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66181012 | |||||||
| chrX:66181038 | T | G | 18 | a0001c0002t0001g0022 a0001c0002t0001g0023 a0001c0002t0001g0024 others(15): Show |
19 | HG00735.hp1 HG01167.hp1 HG01169.hp2 others(16): Show |
intron_variant | MODIFIER | c.625+7237T>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66181038 | |||||||
| chrX:66181147 | C | T | 1 | a0001c0002t0002g0069 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.626-7212C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66181147 | |||||||
| chrX:66181160 | T | C | 86 | a0001c0002t0001g0006 a0001c0002t0001g0022 a0001c0002t0001g0023 others(83): Show |
87 | HG00099.hp2 HG00733.hp1 HG00735.hp1 others(84): Show |
intron_variant | MODIFIER | c.626-7199T>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66181160 | |||||||
| chrX:66181206 | A | T | 1 | a0001c0002t0002g0068 | 1 | HG01169.hp1 | intron_variant | MODIFIER | c.626-7153A>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66181206 | |||||||
| chrX:66181293 | G | C | 1 | a0001c0003t0002g0211 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.626-7066G>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66181293 | |||||||
| chrX:66181302 | T | G | 3 | a0001c0003t0001g0081 a0001c0003t0002g0082 a0001c0010t0001g0080 |
3 | HG02615.hp2 HG03130.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.626-7057T>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66181302 | |||||||
| chrX:66181360 | G | A | 51 | a0001c0002t0001g0006 a0001c0002t0001g0043 a0001c0002t0001g0046 others(48): Show |
51 | HG00099.hp2 HG00733.hp1 HG00741.hp1 others(48): Show |
intron_variant | MODIFIER | c.626-6999G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66181360 | |||||||
| chrX:66181438 | T | C | 68 | a0001c0002t0001g0006 a0001c0002t0001g0022 a0001c0002t0001g0023 others(65): Show |
69 | HG00099.hp2 HG00733.hp1 HG00735.hp1 others(66): Show |
intron_variant | MODIFIER | c.626-6921T>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66181438 | |||||||
| chrX:66181510 | T | C | 1 | a0001c0001t0001g0109 | 1 | NA18945.hp1 | intron_variant | MODIFIER | c.626-6849T>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66181510 | |||||||
| chrX:66181551 | T | G | 1 | a0001c0003t0002g0007 | 1 | HG02896.hp1 | intron_variant | MODIFIER | c.626-6808T>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66181551 | |||||||
| chrX:66181617 | A | C | 53 | a0001c0002t0001g0006 a0001c0002t0001g0043 a0001c0002t0001g0046 others(50): Show |
53 | HG00099.hp2 HG00733.hp1 HG00741.hp1 others(50): Show |
intron_variant | MODIFIER | c.626-6742A>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66181617 | |||||||
| chrX:66181649 | T | G | 1 | a0001c0001t0001g0110 | 1 | NA18955.hp1 | intron_variant | MODIFIER | c.626-6710T>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66181649 | |||||||
| chrX:66181696 | T | G | 1 | a0001c0002t0002g0069 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.626-6663T>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66181696 | |||||||
| chrX:66181933 | A | C | 1 | a0001c0003t0002g0082 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.626-6426A>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66181933 | |||||||
| chrX:66181981 | C | A | 1 | a0001c0001t0001g0206 | 1 | HG03942.hp1 | intron_variant | MODIFIER | c.626-6378C>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66181981 | |||||||
| chrX:66181981 | C | G | 1 | a0001c0003t0002g0026 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.626-6378C>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66181981 | |||||||
| chrX:66181999 | A | C | 3 | a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0002g0092 |
3 | HG00673.hp1 HG02165.hp1 NA19005.hp1 |
intron_variant | MODIFIER | c.626-6360A>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66181999 | |||||||
| chrX:66182012 | A | G | 3 | a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0002g0092 |
3 | HG00673.hp1 HG02165.hp1 NA19005.hp1 |
intron_variant | MODIFIER | c.626-6347A>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66182012 | |||||||
| chrX:66182014 | A | G | 1 | a0008c0014t0001g0079 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.626-6345A>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66182014 | |||||||
| chrX:66182021 | A | G | 6 | a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0002g0092 others(3): Show |
6 | HG00673.hp1 HG00738.hp1 HG01081.hp1 others(3): Show |
intron_variant | MODIFIER | c.626-6338A>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66182021 | |||||||
| chrX:66182023 | T | C | 3 | a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0002g0092 |
3 | HG00673.hp1 HG02165.hp1 NA19005.hp1 |
intron_variant | MODIFIER | c.626-6336T>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66182023 | |||||||
| chrX:66182074 | C | T | 1 | a0008c0014t0001g0079 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.626-6285C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66182074 | |||||||
| chrX:66182075 | C | A | 3 | a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0002g0092 |
3 | HG00673.hp1 HG02165.hp1 NA19005.hp1 |
intron_variant | MODIFIER | c.626-6284C>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66182075 | |||||||
| chrX:66182114 | C | A | 3 | a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0002g0092 |
3 | HG00673.hp1 HG02165.hp1 NA19005.hp1 |
intron_variant | MODIFIER | c.626-6245C>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66182114 | |||||||
| chrX:66182115 | G | A | 5 | a0001c0001t0001g0111 a0001c0001t0001g0174 a0001c0001t0001g0175 others(2): Show |
5 | HG00733.hp2 HG01070.hp2 HG01074.hp1 others(2): Show |
intron_variant | MODIFIER | c.626-6244G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66182115 | |||||||
| chrX:66182165 | A | G | 53 | a0001c0002t0001g0006 a0001c0002t0001g0043 a0001c0002t0001g0046 others(50): Show |
53 | HG00099.hp2 HG00733.hp1 HG00741.hp1 others(50): Show |
intron_variant | MODIFIER | c.626-6194A>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66182165 | |||||||
| chrX:66182175 | C | T | 1 | a0001c0001t0001g0195 | 1 | NA19068.hp1 | intron_variant | MODIFIER | c.626-6184C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66182175 | |||||||
| chrX:66182339 | A | G | 3 | a0001c0003t0001g0028 a0001c0003t0001g0029 a0001c0003t0001g0030 |
3 | HG02622.hp2 HG02922.hp1 HG03098.hp1 |
intron_variant | MODIFIER | c.626-6020A>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66182339 | |||||||
| chrX:66182403 | A | G | 1 | a0001c0001t0001g0151 | 1 | NA19006.hp1 | intron_variant | MODIFIER | c.626-5956A>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66182403 | |||||||
| chrX:66182404 | G | A | 1 | a0001c0001t0001g0151 | 1 | NA19006.hp1 | intron_variant | MODIFIER | c.626-5955G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66182404 | |||||||
| chrX:66182405 | A | C | 1 | a0001c0001t0001g0151 | 1 | NA19006.hp1 | intron_variant | MODIFIER | c.626-5954A>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66182405 | |||||||
| chrX:66182407 | G | T | 1 | a0001c0001t0001g0150 | 1 | NA19079.hp1 | intron_variant | MODIFIER | c.626-5952G>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66182407 | |||||||
| chrX:66182431 | G | C | 1 | a0001c0001t0001g0110 | 1 | NA18955.hp1 | intron_variant | MODIFIER | c.626-5928G>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66182431 | |||||||
| chrX:66182467 | G | A | 1 | a0001c0002t0002g0009 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.626-5892G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66182467 | |||||||
| chrX:66182481 | C | T | 3 | a0001c0003t0001g0081 a0001c0003t0002g0082 a0001c0010t0001g0080 |
3 | HG02615.hp2 HG03130.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.626-5878C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66182481 | |||||||
| chrX:66182485 | G | T | 1 | a0001c0002t0002g0071 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.626-5874G>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66182485 | |||||||
| chrX:66182539 | T | C | 16 | a0001c0002t0002g0040 a0001c0002t0002g0041 a0001c0002t0002g0042 others(13): Show |
16 | HG00099.hp2 HG00733.hp1 HG01169.hp1 others(13): Show |
intron_variant | MODIFIER | c.626-5820T>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66182539 | |||||||
| chrX:66182547 | T | A | 1 | a0001c0001t0001g0151 | 1 | NA19006.hp1 | intron_variant | MODIFIER | c.626-5812T>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66182547 | |||||||
| chrX:66182607 | C | T | 1 | a0001c0002t0002g0039 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.626-5752C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66182607 | |||||||
| chrX:66182626 | A | T | 1 | a0001c0002t0002g0069 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.626-5733A>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66182626 | |||||||
| chrX:66182638 | G | A | 2 | a0001c0001t0001g0088 a0001c0001t0001g0176 |
2 | NA18988.hp1 NA19088.hp1 |
intron_variant | MODIFIER | c.626-5721G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66182638 | |||||||
| chrX:66182683 | A | C | 1 | a0001c0001t0001g0110 | 1 | NA18955.hp1 | intron_variant | MODIFIER | c.626-5676A>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66182683 | |||||||
| chrX:66182749 | C | T | 1 | a0001c0002t0002g0042 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.626-5610C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66182749 | |||||||
| chrX:66182866 | A | G | 1 | a0001c0001t0001g0149 | 1 | HG01943.hp1 | intron_variant | MODIFIER | c.626-5493A>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66182866 | |||||||
| chrX:66182870 | G | A | 5 | a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0212 others(2): Show |
5 | HG00597.hp2 NA18960.hp1 NA18989.hp1 others(2): Show |
intron_variant | MODIFIER | c.626-5489G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66182870 | |||||||
| chrX:66183015 | G | C | 2 | a0001c0002t0001g0043 a0001c0002t0001g0215 |
2 | HG02280.hp2 HG02886.hp2 |
intron_variant | MODIFIER | c.626-5344G>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66183015 | |||||||
| chrX:66183027 | A | G | 1 | a0001c0001t0001g0148 | 1 | HG00597.hp1 | intron_variant | MODIFIER | c.626-5332A>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66183027 | |||||||
| chrX:66183033 | G | T | 7 | a0001c0003t0001g0027 a0001c0003t0001g0028 a0001c0003t0001g0029 others(4): Show |
7 | HG02055.hp1 HG02109.hp2 HG02622.hp2 others(4): Show |
intron_variant | MODIFIER | c.626-5326G>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66183033 | |||||||
| chrX:66183472 | T | G | 7 | a0001c0003t0001g0027 a0001c0003t0001g0028 a0001c0003t0001g0029 others(4): Show |
7 | HG02055.hp1 HG02109.hp2 HG02622.hp2 others(4): Show |
intron_variant | MODIFIER | c.626-4887T>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66183472 | |||||||
| chrX:66183487 | G | A | 2 | a0001c0001t0001g0093 a0001c0001t0001g0094 |
2 | NA18995.hp1 NA19089.hp1 |
intron_variant | MODIFIER | c.626-4872G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66183487 | |||||||
| chrX:66183499 | A | G | 150 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(147): Show |
151 | HG00099.hp2 HG00597.hp1 HG00621.hp1 others(148): Show |
intron_variant | MODIFIER | c.626-4860A>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66183499 | |||||||
| chrX:66183663 | A | C | 86 | a0001c0002t0001g0006 a0001c0002t0001g0022 a0001c0002t0001g0023 others(83): Show |
87 | HG00099.hp2 HG00733.hp1 HG00735.hp1 others(84): Show |
intron_variant | MODIFIER | c.626-4696A>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66183663 | |||||||
| chrX:66183667 | A | G | 86 | a0001c0002t0001g0006 a0001c0002t0001g0022 a0001c0002t0001g0023 others(83): Show |
87 | HG00099.hp2 HG00733.hp1 HG00735.hp1 others(84): Show |
intron_variant | MODIFIER | c.626-4692A>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66183667 | |||||||
| chrX:66184008 | G | A | 1 | a0001c0002t0002g0068 | 1 | HG01169.hp1 | intron_variant | MODIFIER | c.626-4351G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66184008 | |||||||
| chrX:66184099 | G | T | 1 | a0001c0013t0002g0208 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.626-4260G>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66184099 | |||||||
| chrX:66184122 | C | G | 1 | a0008c0014t0001g0079 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.626-4237C>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66184122 | |||||||
| chrX:66184131 | C | G | 1 | a0001c0002t0002g0009 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.626-4228C>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66184131 | |||||||
| chrX:66184160 | G | GA | 4 | a0001c0003t0001g0028 a0001c0003t0001g0029 a0001c0003t0001g0030 others(1): Show |
4 | HG02622.hp2 HG02922.hp1 HG03098.hp1 others(1): Show |
intron_variant | MODIFIER | c.626-4192dupA | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | INFO_REALIGN_3_PRIME | chrX | 66184160 | ||||||
| chrX:66184196 | A | G | 74 | a0001c0002t0001g0006 a0001c0002t0001g0022 a0001c0002t0001g0023 others(71): Show |
75 | HG00099.hp2 HG00733.hp1 HG00735.hp1 others(72): Show |
intron_variant | MODIFIER | c.626-4163A>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66184196 | |||||||
| chrX:66184219 | T | C | 12 | a0001c0003t0001g0027 a0001c0003t0001g0028 a0001c0003t0001g0029 others(9): Show |
12 | HG00738.hp1 HG01081.hp1 HG02055.hp1 others(9): Show |
intron_variant | MODIFIER | c.626-4140T>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66184219 | |||||||
| chrX:66184278 | A | G | 3 | a0001c0003t0001g0081 a0001c0003t0002g0082 a0001c0010t0001g0080 |
3 | HG02615.hp2 HG03130.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.626-4081A>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66184278 | |||||||
| chrX:66184301 | G | A | 1 | a0001c0003t0002g0082 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.626-4058G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66184301 | |||||||
| chrX:66184365 | G | C | 1 | a0001c0002t0002g0071 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.626-3994G>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66184365 | |||||||
| chrX:66184864 | C | T | 71 | a0001c0002t0001g0006 a0001c0002t0001g0022 a0001c0002t0001g0023 others(68): Show |
72 | HG00099.hp2 HG00733.hp1 HG00735.hp1 others(69): Show |
intron_variant | MODIFIER | c.626-3495C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66184864 | |||||||
| chrX:66184963 | G | T | 1 | a0001c0001t0001g0147 | 1 | HG02071.hp1 | intron_variant | MODIFIER | c.626-3396G>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66184963 | |||||||
| chrX:66184982 | G | T | 2 | a0001c0001t0001g0107 a0001c0001t0001g0146 |
2 | NA18971.hp1 NA19056.hp1 |
intron_variant | MODIFIER | c.626-3377G>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66184982 | |||||||
| chrX:66185065 | G | A | 1 | a0001c0001t0001g0122 | 1 | NA18949.hp2 | intron_variant | MODIFIER | c.626-3294G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66185065 | |||||||
| chrX:66185067 | G | T | 1 | a0001c0003t0001g0002 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.626-3292G>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66185067 | |||||||
| chrX:66185219 | C | T | 4 | a0001c0003t0002g0209 a0001c0003t0002g0210 a0001c0003t0002g0211 others(1): Show |
4 | HG00738.hp1 HG01081.hp1 HG02647.hp1 others(1): Show |
intron_variant | MODIFIER | c.626-3140C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66185219 | |||||||
| chrX:66185246 | G | T | 1 | a0001c0001t0001g0145 | 1 | NA20805.hp1 | intron_variant | MODIFIER | c.626-3113G>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66185246 | |||||||
| chrX:66185278 | G | A | 53 | a0001c0002t0001g0006 a0001c0002t0001g0043 a0001c0002t0001g0046 others(50): Show |
53 | HG00099.hp2 HG00733.hp1 HG00741.hp1 others(50): Show |
intron_variant | MODIFIER | c.626-3081G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66185278 | |||||||
| chrX:66185310 | T | G | 1 | a0001c0013t0002g0208 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.626-3049T>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66185310 | |||||||
| chrX:66185337 | C | T | 2 | a0001c0002t0001g0043 a0001c0002t0001g0215 |
2 | HG02280.hp2 HG02886.hp2 |
intron_variant | MODIFIER | c.626-3022C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66185337 | |||||||
| chrX:66185552 | A | T | 4 | a0001c0003t0002g0209 a0001c0003t0002g0210 a0001c0003t0002g0211 others(1): Show |
4 | HG00738.hp1 HG01081.hp1 HG02647.hp1 others(1): Show |
intron_variant | MODIFIER | c.626-2807A>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66185552 | |||||||
| chrX:66185619 | A | T | 1 | a0001c0001t0001g0099 | 1 | HG02083.hp1 | intron_variant | MODIFIER | c.626-2740A>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66185619 | |||||||
| chrX:66185620 | G | A | 1 | a0001c0003t0001g0031 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.626-2739G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66185620 | |||||||
| chrX:66185704 | G | A | 1 | a0001c0002t0002g0009 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.626-2655G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66185704 | |||||||
| chrX:66185734 | T | C | 1 | a0001c0001t0001g0102 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.626-2625T>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66185734 | |||||||
| chrX:66185753 | C | T | 2 | a0001c0002t0002g0010 a0001c0002t0002g0011 |
2 | HG01243.hp1 HG02630.hp2 |
intron_variant | MODIFIER | c.626-2606C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66185753 | |||||||
| chrX:66185783 | G | T | 18 | a0001c0002t0001g0022 a0001c0002t0001g0023 a0001c0002t0001g0024 others(15): Show |
19 | HG00735.hp1 HG01167.hp1 HG01169.hp2 others(16): Show |
intron_variant | MODIFIER | c.626-2576G>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66185783 | |||||||
| chrX:66185820 | C | T | 1 | a0001c0001t0001g0196 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.626-2539C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66185820 | |||||||
| chrX:66185900 | T | G | 89 | a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 others(86): Show |
90 | HG00099.hp2 HG00733.hp1 HG00735.hp1 others(87): Show |
intron_variant | MODIFIER | c.626-2459T>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66185900 | |||||||
| chrX:66185961 | C | T | 72 | a0001c0002t0001g0006 a0001c0002t0001g0022 a0001c0002t0001g0023 others(69): Show |
73 | HG00099.hp2 HG00733.hp1 HG00735.hp1 others(70): Show |
intron_variant | MODIFIER | c.626-2398C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66185961 | |||||||
| chrX:66185993 | G | T | 7 | a0001c0003t0001g0027 a0001c0003t0001g0028 a0001c0003t0001g0029 others(4): Show |
7 | HG02055.hp1 HG02109.hp2 HG02622.hp2 others(4): Show |
intron_variant | MODIFIER | c.626-2366G>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66185993 | |||||||
| chrX:66186124 | C | T | 3 | a0001c0003t0001g0081 a0001c0003t0002g0082 a0001c0010t0001g0080 |
3 | HG02615.hp2 HG03130.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.626-2235C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66186124 | |||||||
| chrX:66186185 | A | G | 53 | a0001c0002t0001g0006 a0001c0002t0001g0043 a0001c0002t0001g0046 others(50): Show |
53 | HG00099.hp2 HG00733.hp1 HG00741.hp1 others(50): Show |
intron_variant | MODIFIER | c.626-2174A>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66186185 | |||||||
| chrX:66186200 | G | T | 2 | a0001c0002t0002g0010 a0001c0002t0002g0011 |
2 | HG01243.hp1 HG02630.hp2 |
intron_variant | MODIFIER | c.626-2159G>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66186200 | |||||||
| chrX:66186246 | A | C | 2 | a0001c0001t0001g0090 a0001c0001t0001g0151 |
2 | NA19005.hp1 NA19006.hp1 |
intron_variant | MODIFIER | c.626-2113A>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66186246 | |||||||
| chrX:66186247 | G | A | 1 | a0001c0001t0001g0090 | 1 | NA19005.hp1 | intron_variant | MODIFIER | c.626-2112G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66186247 | |||||||
| chrX:66186276 | GC | G | 71 | a0001c0002t0001g0006 a0001c0002t0001g0022 a0001c0002t0001g0023 others(68): Show |
72 | HG00099.hp2 HG00733.hp1 HG00735.hp1 others(69): Show |
intron_variant | MODIFIER | c.626-2082delC | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66186276 | |||||||
| chrX:66186304 | C | G | 1 | a0001c0002t0002g0011 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.626-2055C>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66186304 | |||||||
| chrX:66186311 | G | A | 2 | a0001c0002t0001g0043 a0001c0002t0001g0215 |
2 | HG02280.hp2 HG02886.hp2 |
intron_variant | MODIFIER | c.626-2048G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66186311 | |||||||
| chrX:66186436 | G | A | 1 | a0001c0002t0002g0061 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.626-1923G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66186436 | |||||||
| chrX:66186563 | C | T | 1 | a0001c0003t0001g0020 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.626-1796C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66186563 | |||||||
| chrX:66186717 | T | G | 86 | a0001c0002t0001g0006 a0001c0002t0001g0022 a0001c0002t0001g0023 others(83): Show |
87 | HG00099.hp2 HG00733.hp1 HG00735.hp1 others(84): Show |
intron_variant | MODIFIER | c.626-1642T>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66186717 | |||||||
| chrX:66186747 | T | G | 1 | a0001c0002t0002g0071 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.626-1612T>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66186747 | |||||||
| chrX:66186901 | G | T | 71 | a0001c0002t0001g0006 a0001c0002t0001g0022 a0001c0002t0001g0023 others(68): Show |
72 | HG00099.hp2 HG00733.hp1 HG00735.hp1 others(69): Show |
intron_variant | MODIFIER | c.626-1458G>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66186901 | |||||||
| chrX:66187101 | GCTAT | G | 16 | a0001c0002t0002g0040 a0001c0002t0002g0041 a0001c0002t0002g0042 others(13): Show |
16 | HG00099.hp2 HG00733.hp1 HG01169.hp1 others(13): Show |
intron_variant | MODIFIER | c.626-1253_626-1250d others(6): Show |
HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | INFO_REALIGN_3_PRIME | chrX | 66187101 | ||||||
| chrX:66187145 | T | G | 87 | a0001c0001t0001g0108 a0001c0002t0001g0006 a0001c0002t0001g0022 others(84): Show |
88 | HG00099.hp2 HG00733.hp1 HG00735.hp1 others(85): Show |
intron_variant | MODIFIER | c.626-1214T>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66187145 | |||||||
| chrX:66187148 | G | T | 2 | a0001c0001t0001g0171 a0001c0001t0001g0175 |
2 | HG00741.hp2 NA20905.hp1 |
intron_variant | MODIFIER | c.626-1211G>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66187148 | |||||||
| chrX:66187174 | C | T | 2 | a0001c0001t0001g0203 a0001c0001t0001g0204 |
2 | HG01070.hp2 HG01074.hp1 |
intron_variant | MODIFIER | c.626-1185C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66187174 | |||||||
| chrX:66187240 | G | T | 149 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(146): Show |
150 | HG00099.hp2 HG00597.hp1 HG00621.hp1 others(147): Show |
intron_variant | MODIFIER | c.626-1119G>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66187240 | |||||||
| chrX:66187259 | A | AT | 12 | a0001c0003t0001g0027 a0001c0003t0001g0028 a0001c0003t0001g0029 others(9): Show |
12 | HG00738.hp1 HG01081.hp1 HG02055.hp1 others(9): Show |
intron_variant | MODIFIER | c.626-1091dupT | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | INFO_REALIGN_3_PRIME | chrX | 66187259 | ||||||
| chrX:66187313 | G | A | 1 | a0001c0001t0001g0112 | 1 | HG03834.hp1 | intron_variant | MODIFIER | c.626-1046G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66187313 | |||||||
| chrX:66187482 | T | G | 71 | a0001c0002t0001g0006 a0001c0002t0001g0022 a0001c0002t0001g0023 others(68): Show |
72 | HG00099.hp2 HG00733.hp1 HG00735.hp1 others(69): Show |
intron_variant | MODIFIER | c.626-877T>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66187482 | |||||||
| chrX:66188019 | G | A | 2 | a0001c0002t0002g0035 a0001c0002t0002g0036 |
2 | HG01884.hp2 HG02257.hp1 |
intron_variant | MODIFIER | c.626-340G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66188019 | |||||||
| chrX:66188117 | G | A | 3 | a0001c0003t0001g0027 a0001c0003t0001g0078 a0001c0003t0002g0026 |
3 | HG02055.hp1 HG02109.hp2 HG03041.hp1 |
intron_variant | MODIFIER | c.626-242G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66188117 | |||||||
| chrX:66188120 | G | A | 1 | a0001c0001t0001g0125 | 1 | HG00621.hp1 | intron_variant | MODIFIER | c.626-239G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 4/20 | chrX | 66188120 | |||||||
| chrX:66188603 | C | T | 53 | a0001c0002t0001g0006 a0001c0002t0001g0043 a0001c0002t0001g0046 others(50): Show |
53 | HG00099.hp2 HG00733.hp1 HG00741.hp1 others(50): Show |
intron_variant | MODIFIER | c.808+62C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 5/20 | chrX | 66188603 | |||||||
| chrX:66188652 | C | T | 1 | a0001c0002t0002g0042 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.808+111C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 5/20 | chrX | 66188652 | |||||||
| chrX:66188700 | C | T | 1 | a0001c0002t0002g0060 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.808+159C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 5/20 | chrX | 66188700 | |||||||
| chrX:66188790 | A | G | 2 | a0001c0001t0001g0087 a0001c0001t0001g0144 |
2 | HG02738.hp1 NA19091.hp1 |
intron_variant | MODIFIER | c.808+249A>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 5/20 | chrX | 66188790 | |||||||
| chrX:66188913 | G | T | 1 | a0001c0001t0001g0194 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.808+372G>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 5/20 | chrX | 66188913 | |||||||
| chrX:66189353 | C | A | 1 | a0007c0012t0002g0077 | 1 | HG02273.hp1 | intron_variant | MODIFIER | c.809-331C>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 5/20 | chrX | 66189353 | |||||||
| chrX:66189432 | G | A | 16 | a0001c0001t0001g0087 a0001c0001t0001g0093 a0001c0001t0001g0094 others(13): Show |
16 | HG00597.hp1 HG02040.hp1 HG02071.hp1 others(13): Show |
intron_variant | MODIFIER | c.809-252G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 5/20 | chrX | 66189432 | |||||||
| chrX:66190238 | C | T | 1 | a0001c0003t0002g0210 | 1 | HG01081.hp1 | intron_variant | MODIFIER | c.1063+300C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 6/20 | chrX | 66190238 | |||||||
| chrX:66190525 | G | A | 1 | a0001c0001t0001g0169 | 1 | HG02132.hp1 | intron_variant | MODIFIER | c.1063+587G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 6/20 | chrX | 66190525 | |||||||
| chrX:66190609 | T | C | 74 | a0001c0002t0001g0006 a0001c0002t0001g0022 a0001c0002t0001g0023 others(71): Show |
75 | HG00099.hp2 HG00733.hp1 HG00735.hp1 others(72): Show |
intron_variant | MODIFIER | c.1063+671T>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 6/20 | chrX | 66190609 | |||||||
| chrX:66190791 | A | G | 5 | a0001c0003t0002g0209 a0001c0003t0002g0210 a0001c0003t0002g0211 others(2): Show |
5 | HG00738.hp1 HG01081.hp1 HG02647.hp1 others(2): Show |
intron_variant | MODIFIER | c.1063+853A>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 6/20 | chrX | 66190791 | |||||||
| chrX:66190806 | A | G | 4 | a0001c0002t0002g0037 a0001c0002t0002g0038 a0001c0002t0003g0032 others(1): Show |
4 | HG02280.hp1 HG02922.hp2 HG03209.hp1 others(1): Show |
intron_variant | MODIFIER | c.1063+868A>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 6/20 | chrX | 66190806 | |||||||
| chrX:66190909 | A | G | 5 | a0001c0003t0001g0028 a0001c0003t0001g0029 a0001c0003t0001g0030 others(2): Show |
5 | HG02622.hp2 HG02922.hp1 HG03098.hp1 others(2): Show |
intron_variant | MODIFIER | c.1063+971A>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 6/20 | chrX | 66190909 | |||||||
| chrX:66191017 | A | G | 1 | a0001c0002t0002g0009 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.1063+1079A>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 6/20 | chrX | 66191017 | |||||||
| chrX:66191090 | G | C | 1 | a0001c0003t0002g0210 | 1 | HG01081.hp1 | intron_variant | MODIFIER | c.1064-1040G>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 6/20 | chrX | 66191090 | |||||||
| chrX:66191274 | A | C | 5 | a0001c0003t0002g0209 a0001c0003t0002g0210 a0001c0003t0002g0211 others(2): Show |
5 | HG00738.hp1 HG01081.hp1 HG02647.hp1 others(2): Show |
intron_variant | MODIFIER | c.1064-856A>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 6/20 | chrX | 66191274 | |||||||
| chrX:66191394 | T | A | 1 | a0001c0001t0001g0100 | 1 | HG02129.hp1 | intron_variant | MODIFIER | c.1064-736T>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 6/20 | chrX | 66191394 | |||||||
| chrX:66191460 | T | C | 1 | a0001c0002t0001g0006 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.1064-670T>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 6/20 | chrX | 66191460 | |||||||
| chrX:66191513 | C | A | 1 | a0001c0001t0001g0179 | 1 | HG02165.hp2 | intron_variant | MODIFIER | c.1064-617C>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 6/20 | chrX | 66191513 | |||||||
| chrX:66191548 | G | A | 1 | a0001c0002t0002g0044 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.1064-582G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 6/20 | chrX | 66191548 | |||||||
| chrX:66191685 | C | T | 53 | a0001c0002t0001g0006 a0001c0002t0001g0043 a0001c0002t0001g0046 others(50): Show |
53 | HG00099.hp2 HG00733.hp1 HG00741.hp1 others(50): Show |
intron_variant | MODIFIER | c.1064-445C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 6/20 | chrX | 66191685 | |||||||
| chrX:66191784 | C | T | 7 | a0001c0003t0001g0027 a0001c0003t0001g0028 a0001c0003t0001g0029 others(4): Show |
7 | HG02055.hp1 HG02109.hp2 HG02622.hp2 others(4): Show |
intron_variant | MODIFIER | c.1064-346C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 6/20 | chrX | 66191784 | |||||||
| chrX:66192026 | G | C | 3 | a0001c0001t0001g0085 a0003c0006t0001g0083 a0003c0006t0001g0084 |
3 | NA18952.hp1 NA18959.hp1 NA19075.hp1 |
intron_variant | MODIFIER | c.1064-104G>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 6/20 | chrX | 66192026 | |||||||
| chrX:66192306 | G | A | 17 | a0001c0002t0001g0046 a0001c0002t0002g0044 a0001c0002t0002g0045 others(14): Show |
17 | HG01255.hp1 HG02109.hp1 HG02145.hp1 others(14): Show |
splice_region_variant&intron_variant | LOW | c.1232+8G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 7/20 | chrX | 66192306 | |||||||
| chrX:66192326 | A | G | 3 | a0001c0003t0001g0081 a0001c0003t0002g0082 a0001c0010t0001g0080 |
3 | HG02615.hp2 HG03130.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.1232+28A>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 7/20 | chrX | 66192326 | |||||||
| chrX:66192896 | A | G | 4 | a0001c0002t0001g0022 a0001c0002t0001g0023 a0001c0002t0001g0024 others(1): Show |
4 | HG02630.hp1 HG02723.hp1 HG02896.hp2 others(1): Show |
intron_variant | MODIFIER | c.1232+598A>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 7/20 | chrX | 66192896 | |||||||
| chrX:66193114 | G | T | 1 | a0001c0010t0001g0080 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.1233-388G>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 7/20 | chrX | 66193114 | |||||||
| chrX:66193223 | A | G | 3 | a0001c0001t0001g0086 a0004c0007t0001g0166 a0004c0007t0001g0167 |
3 | NA18943.hp1 NA18984.hp1 NA19009.hp1 |
intron_variant | MODIFIER | c.1233-279A>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 7/20 | chrX | 66193223 | |||||||
| chrX:66193829 | T | C | 5 | a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 others(2): Show |
5 | HG00639.hp1 HG01257.hp2 HG01258.hp1 others(2): Show |
intron_variant | MODIFIER | c.1369+191T>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 8/20 | chrX | 66193829 | |||||||
| chrX:66194139 | A | T | 74 | a0001c0002t0001g0006 a0001c0002t0001g0022 a0001c0002t0001g0023 others(71): Show |
75 | HG00099.hp2 HG00733.hp1 HG00735.hp1 others(72): Show |
intron_variant | MODIFIER | c.1369+501A>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 8/20 | chrX | 66194139 | |||||||
| chrX:66194268 | A | G | 1 | a0001c0002t0002g0009 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.1369+630A>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 8/20 | chrX | 66194268 | |||||||
| chrX:66194775 | T | A | 85 | a0001c0002t0001g0006 a0001c0002t0001g0022 a0001c0002t0001g0023 others(82): Show |
86 | HG00099.hp2 HG00733.hp1 HG00735.hp1 others(83): Show |
intron_variant | MODIFIER | c.1370-323T>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 8/20 | chrX | 66194775 | |||||||
| chrX:66195332 | T | G | 86 | a0001c0002t0001g0006 a0001c0002t0001g0022 a0001c0002t0001g0023 others(83): Show |
87 | HG00099.hp2 HG00733.hp1 HG00735.hp1 others(84): Show |
intron_variant | MODIFIER | c.1501+103T>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 9/20 | chrX | 66195332 | |||||||
| chrX:66195540 | A | C | 1 | a0001c0001t0001g0205 | 1 | HG02602.hp1 | intron_variant | MODIFIER | c.1501+311A>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 9/20 | chrX | 66195540 | |||||||
| chrX:66195713 | G | A | 18 | a0001c0002t0001g0022 a0001c0002t0001g0023 a0001c0002t0001g0024 others(15): Show |
19 | HG00735.hp1 HG01167.hp1 HG01169.hp2 others(16): Show |
intron_variant | MODIFIER | c.1501+484G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 9/20 | chrX | 66195713 | |||||||
| chrX:66195788 | T | C | 6 | a0001c0001t0001g0086 a0001c0001t0001g0097 a0001c0001t0001g0150 others(3): Show |
6 | NA18943.hp1 NA18949.hp1 NA18953.hp1 others(3): Show |
intron_variant | MODIFIER | c.1501+559T>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 9/20 | chrX | 66195788 | |||||||
| chrX:66195830 | T | C | 1 | a0001c0001t0001g0180 | 1 | HG01257.hp1 | intron_variant | MODIFIER | c.1501+601T>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 9/20 | chrX | 66195830 | |||||||
| chrX:66195848 | T | A | 18 | a0001c0002t0001g0022 a0001c0002t0001g0023 a0001c0002t0001g0024 others(15): Show |
19 | HG00735.hp1 HG01167.hp1 HG01169.hp2 others(16): Show |
intron_variant | MODIFIER | c.1501+619T>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 9/20 | chrX | 66195848 | |||||||
| chrX:66196245 | G | A | 85 | a0001c0002t0001g0006 a0001c0002t0001g0022 a0001c0002t0001g0023 others(82): Show |
86 | HG00099.hp2 HG00733.hp1 HG00735.hp1 others(83): Show |
intron_variant | MODIFIER | c.1501+1016G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 9/20 | chrX | 66196245 | |||||||
| chrX:66196310 | A | C | 2 | a0001c0001t0001g0142 a0001c0001t0001g0143 |
2 | NA19062.hp1 NA19076.hp1 |
intron_variant | MODIFIER | c.1501+1081A>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 9/20 | chrX | 66196310 | |||||||
| chrX:66196612 | A | G | 1 | a0001c0002t0002g0042 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.1502-1071A>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 9/20 | chrX | 66196612 | |||||||
| chrX:66196752 | C | T | 3 | a0001c0003t0001g0081 a0001c0003t0002g0082 a0001c0010t0001g0080 |
3 | HG02615.hp2 HG03130.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.1502-931C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 9/20 | chrX | 66196752 | |||||||
| chrX:66197170 | C | T | 71 | a0001c0002t0001g0006 a0001c0002t0001g0022 a0001c0002t0001g0023 others(68): Show |
72 | HG00099.hp2 HG00733.hp1 HG00735.hp1 others(69): Show |
intron_variant | MODIFIER | c.1502-513C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 9/20 | chrX | 66197170 | |||||||
| chrX:66197312 | G | A | 1 | a0001c0001t0001g0181 | 1 | HG00140.hp1 | intron_variant | MODIFIER | c.1502-371G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 9/20 | chrX | 66197312 | |||||||
| chrX:66197503 | G | A | 1 | a0001c0002t0002g0216 | 1 | HG03834.hp2 | intron_variant | MODIFIER | c.1502-180G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 9/20 | chrX | 66197503 | |||||||
| chrX:66197578 | C | A | 1 | a0001c0003t0002g0012 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.1502-105C>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 9/20 | chrX | 66197578 | |||||||
| chrX:66197678 | T | C | 3 | a0001c0001t0001g0095 a0001c0001t0001g0113 a0001c0001t0001g0114 |
3 | HG01070.hp1 HG01952.hp1 HG02273.hp2 |
splice_region_variant&intron_variant | LOW | c.1502-5T>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 9/20 | chrX | 66197678 | |||||||
| chrX:66198051 | A | G | 86 | a0001c0002t0001g0006 a0001c0002t0001g0022 a0001c0002t0001g0023 others(83): Show |
87 | HG00099.hp2 HG00733.hp1 HG00735.hp1 others(84): Show |
intron_variant | MODIFIER | c.1713+157A>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 10/20 | chrX | 66198051 | |||||||
| chrX:66198167 | T | C | 86 | a0001c0002t0001g0006 a0001c0002t0001g0022 a0001c0002t0001g0023 others(83): Show |
87 | HG00099.hp2 HG00733.hp1 HG00735.hp1 others(84): Show |
intron_variant | MODIFIER | c.1713+273T>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 10/20 | chrX | 66198167 | |||||||
| chrX:66198202 | C | G | 3 | a0001c0003t0002g0209 a0001c0003t0002g0210 a0001c0003t0002g0211 |
3 | HG00738.hp1 HG01081.hp1 HG02647.hp1 |
intron_variant | MODIFIER | c.1713+308C>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 10/20 | chrX | 66198202 | |||||||
| chrX:66198210 | C | T | 5 | a0001c0001t0001g0103 a0001c0001t0001g0122 a0001c0001t0001g0123 others(2): Show |
5 | HG00597.hp1 NA18949.hp2 NA18962.hp1 others(2): Show |
intron_variant | MODIFIER | c.1713+316C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 10/20 | chrX | 66198210 | |||||||
| chrX:66198268 | C | G | 1 | a0001c0002t0001g0215 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.1713+374C>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 10/20 | chrX | 66198268 | |||||||
| chrX:66198415 | C | T | 2 | a0001c0003t0002g0007 a0001c0003t0002g0008 |
2 | HG00735.hp1 HG02896.hp1 |
intron_variant | MODIFIER | c.1714-463C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 10/20 | chrX | 66198415 | |||||||
| chrX:66198426 | G | T | 3 | a0001c0003t0001g0081 a0001c0003t0002g0082 a0001c0010t0001g0080 |
3 | HG02615.hp2 HG03130.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.1714-452G>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 10/20 | chrX | 66198426 | |||||||
| chrX:66198627 | A | G | 1 | a0001c0001t0001g0004 | 1 | NA18994.hp1 | intron_variant | MODIFIER | c.1714-251A>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 10/20 | chrX | 66198627 | |||||||
| chrX:66199354 | C | G | 1 | a0001c0003t0002g0211 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.1864+326C>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 11/20 | chrX | 66199354 | |||||||
| chrX:66199360 | T | TC | 35 | a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0001g0141 others(32): Show |
35 | HG00597.hp2 HG00741.hp1 HG01081.hp2 others(32): Show |
intron_variant | MODIFIER | c.1864+343dupC | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 11/20 | INFO_REALIGN_3_PRIME | chrX | 66199360 | ||||||
| chrX:66199551 | C | T | 1 | a0001c0002t0002g0055 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.1864+523C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 11/20 | chrX | 66199551 | |||||||
| chrX:66199709 | T | A | 1 | a0001c0003t0001g0078 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.1864+681T>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 11/20 | chrX | 66199709 | |||||||
| chrX:66199930 | G | GGT | 2 | a0001c0003t0001g0001 a0001c0003t0001g0021 |
3 | HG01167.hp1 HG01169.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.1865-593_1865-592d others(4): Show |
HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 11/20 | INFO_REALIGN_3_PRIME | chrX | 66199930 | ||||||
| chrX:66199930 | GGTGT | G | 4 | a0001c0003t0002g0209 a0001c0003t0002g0210 a0001c0003t0002g0211 others(1): Show |
4 | HG00738.hp1 HG01081.hp1 HG02647.hp1 others(1): Show |
intron_variant | MODIFIER | c.1865-595_1865-592d others(6): Show |
HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 11/20 | INFO_REALIGN_3_PRIME | chrX | 66199930 | ||||||
| chrX:66200241 | G | GGT | 6 | a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0144 others(3): Show |
6 | HG02738.hp1 HG02809.hp1 NA18952.hp1 others(3): Show |
intron_variant | MODIFIER | c.1865-268_1865-267d others(4): Show |
HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 11/20 | INFO_REALIGN_3_PRIME | chrX | 66200241 | ||||||
| chrX:66200241 | G | GGTGT | 3 | a0001c0001t0001g0148 a0001c0003t0001g0027 a0001c0003t0001g0078 |
3 | HG00597.hp1 HG02055.hp1 HG02109.hp2 |
intron_variant | MODIFIER | c.1865-270_1865-267d others(6): Show |
HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 11/20 | INFO_REALIGN_3_PRIME | chrX | 66200241 | ||||||
| chrX:66200241 | G | GGTGTGT | 3 | a0001c0002t0002g0040 a0001c0003t0002g0026 a0007c0012t0002g0077 |
3 | HG02257.hp2 HG02273.hp1 HG03041.hp1 |
intron_variant | MODIFIER | c.1865-272_1865-267d others(8): Show |
HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 11/20 | INFO_REALIGN_3_PRIME | chrX | 66200241 | ||||||
| chrX:66200241 | G | GGTGTGTG others(1): Show |
43 | a0001c0002t0001g0006 a0001c0002t0001g0046 a0001c0002t0001g0056 others(40): Show |
43 | HG00099.hp2 HG00741.hp1 HG01081.hp2 others(40): Show |
intron_variant | MODIFIER | c.1865-274_1865-267d others(10): Show |
HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 11/20 | INFO_REALIGN_3_PRIME | chrX | 66200241 | ||||||
| chrX:66200241 | G | GGTGTGTG others(3): Show |
9 | a0001c0002t0002g0009 a0001c0002t0002g0011 a0001c0002t0002g0039 others(6): Show |
9 | HG01884.hp1 HG02145.hp1 HG02622.hp2 others(6): Show |
intron_variant | MODIFIER | c.1865-276_1865-267d others(12): Show |
HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 11/20 | INFO_REALIGN_3_PRIME | chrX | 66200241 | ||||||
| chrX:66200241 | G | GGTGTGTG others(5): Show |
4 | a0001c0002t0002g0010 a0001c0002t0002g0070 a0001c0003t0002g0209 others(1): Show |
4 | HG00733.hp1 HG00738.hp1 HG01081.hp1 others(1): Show |
intron_variant | MODIFIER | c.1865-278_1865-267d others(14): Show |
HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 11/20 | INFO_REALIGN_3_PRIME | chrX | 66200241 | ||||||
| chrX:66200241 | G | GGTGTGTG others(7): Show |
3 | a0001c0002t0001g0024 a0001c0003t0001g0081 a0001c0003t0002g0008 |
3 | HG00735.hp1 HG02896.hp2 HG03130.hp1 |
intron_variant | MODIFIER | c.1865-280_1865-267d others(16): Show |
HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 11/20 | INFO_REALIGN_3_PRIME | chrX | 66200241 | ||||||
| chrX:66200241 | G | GGTGTGTG others(9): Show |
6 | a0001c0003t0001g0002 a0001c0003t0001g0017 a0001c0003t0001g0019 others(3): Show |
6 | HG02258.hp1 HG02451.hp1 HG02486.hp1 others(3): Show |
intron_variant | MODIFIER | c.1865-282_1865-267d others(18): Show |
HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 11/20 | INFO_REALIGN_3_PRIME | chrX | 66200241 | ||||||
| chrX:66200241 | G | GGTGTGTG others(11): Show |
8 | a0001c0002t0001g0022 a0001c0002t0001g0023 a0001c0002t0001g0215 others(5): Show |
8 | HG01891.hp1 HG02630.hp1 HG02886.hp2 others(5): Show |
intron_variant | MODIFIER | c.1865-284_1865-267d others(20): Show |
HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 11/20 | INFO_REALIGN_3_PRIME | chrX | 66200241 | ||||||
| chrX:66200241 | G | GGTGTGTG others(13): Show |
1 | a0001c0003t0001g0001 | 2 | HG01167.hp1 HG01169.hp2 |
intron_variant | MODIFIER | c.1865-286_1865-267d others(22): Show |
HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 11/20 | INFO_REALIGN_3_PRIME | chrX | 66200241 | ||||||
| chrX:66200241 | G | GGTGTGTG others(15): Show |
1 | a0002c0004t0002g0013 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.1865-288_1865-267d others(24): Show |
HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 11/20 | INFO_REALIGN_3_PRIME | chrX | 66200241 | ||||||
| chrX:66200241 | G | GTGTGTGT others(8): Show |
1 | a0001c0002t0001g0043 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.1865-299_1865-298i others(17): Show |
HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 11/20 | chrX | 66200241 | |||||||
| chrX:66200241 | GGT | G | 7 | a0001c0001t0001g0098 a0001c0001t0001g0137 a0001c0001t0001g0138 others(4): Show |
7 | HG01069.hp1 HG01256.hp1 HG01934.hp1 others(4): Show |
intron_variant | MODIFIER | c.1865-268_1865-267d others(4): Show |
HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 11/20 | INFO_REALIGN_3_PRIME | chrX | 66200241 | ||||||
| chrX:66200273 | T | TGTGTGTG others(6): Show |
1 | a0001c0003t0002g0082 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.1865-267_1865-266i others(15): Show |
HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 11/20 | chrX | 66200273 | |||||||
| chrX:66200273 | T | TGTGTGTG others(8): Show |
1 | a0001c0002t0001g0025 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.1865-267_1865-266i others(17): Show |
HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 11/20 | chrX | 66200273 | |||||||
| chrX:66200273 | T | TGTGTGTG others(12): Show |
1 | a0001c0010t0001g0080 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.1865-267_1865-266i others(21): Show |
HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 11/20 | chrX | 66200273 | |||||||
| chrX:66200767 | A | G | 213 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(210): Show |
214 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(211): Show |
intron_variant | MODIFIER | c.2077+15A>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 12/20 | chrX | 66200767 | |||||||
| chrX:66200813 | G | A | 1 | a0001c0001t0001g0104 | 1 | NA19067.hp1 | intron_variant | MODIFIER | c.2077+61G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 12/20 | chrX | 66200813 | |||||||
| chrX:66201143 | T | C | 1 | a0001c0001t0001g0152 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.2077+391T>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 12/20 | chrX | 66201143 | |||||||
| chrX:66201207 | C | T | 3 | a0001c0003t0001g0018 a0001c0003t0001g0019 a0001c0003t0001g0020 |
3 | HG02258.hp1 HG02451.hp1 HG02976.hp2 |
intron_variant | MODIFIER | c.2077+455C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 12/20 | chrX | 66201207 | |||||||
| chrX:66201239 | G | A | 2 | a0001c0001t0001g0105 a0001c0001t0001g0130 |
2 | NA18966.hp1 NA19063.hp1 |
intron_variant | MODIFIER | c.2077+487G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 12/20 | chrX | 66201239 | |||||||
| chrX:66201331 | C | T | 3 | a0001c0003t0001g0081 a0001c0003t0002g0082 a0001c0010t0001g0080 |
3 | HG02615.hp2 HG03130.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.2077+579C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 12/20 | chrX | 66201331 | |||||||
| chrX:66201891 | C | G | 1 | a0001c0002t0002g0069 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.2077+1139C>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 12/20 | chrX | 66201891 | |||||||
| chrX:66201907 | C | T | 1 | a0001c0001t0001g0191 | 1 | HG03710.hp1 | intron_variant | MODIFIER | c.2077+1155C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 12/20 | chrX | 66201907 | |||||||
| chrX:66202028 | A | C | 2 | a0001c0001t0001g0120 a0001c0001t0001g0121 |
2 | HG00609.hp1 NA19058.hp1 |
intron_variant | MODIFIER | c.2077+1276A>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 12/20 | chrX | 66202028 | |||||||
| chrX:66202143 | A | T | 1 | a0001c0001t0001g0101 | 1 | HG01516.hp2 | intron_variant | MODIFIER | c.2078-1221A>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 12/20 | chrX | 66202143 | |||||||
| chrX:66202173 | G | T | 1 | a0005c0005t0001g0193 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.2078-1191G>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 12/20 | chrX | 66202173 | |||||||
| chrX:66202179 | G | T | 1 | a0001c0001t0001g0200 | 1 | HG03490.hp1 | intron_variant | MODIFIER | c.2078-1185G>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 12/20 | chrX | 66202179 | |||||||
| chrX:66202461 | G | A | 1 | a0001c0002t0002g0011 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.2078-903G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 12/20 | chrX | 66202461 | |||||||
| chrX:66202472 | T | G | 1 | a0001c0002t0002g0039 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.2078-892T>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 12/20 | chrX | 66202472 | |||||||
| chrX:66202909 | G | A | 1 | a0001c0002t0002g0039 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.2078-455G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 12/20 | chrX | 66202909 | |||||||
| chrX:66202912 | C | CAT | 27 | a0001c0001t0001g0102 a0001c0001t0001g0140 a0001c0001t0001g0158 others(24): Show |
28 | HG00099.hp2 HG00597.hp2 HG01167.hp1 others(25): Show |
intron_variant | MODIFIER | c.2078-426_2078-425d others(4): Show |
HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 12/20 | INFO_REALIGN_3_PRIME | chrX | 66202912 | ||||||
| chrX:66202912 | C | CATAT | 14 | a0001c0002t0001g0043 a0001c0002t0001g0046 a0001c0002t0001g0215 others(11): Show |
14 | HG01255.hp1 HG02109.hp1 HG02280.hp2 others(11): Show |
intron_variant | MODIFIER | c.2078-428_2078-425d others(6): Show |
HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 12/20 | INFO_REALIGN_3_PRIME | chrX | 66202912 | ||||||
| chrX:66202912 | C | CATATATA others(1): Show |
4 | a0001c0002t0002g0053 a0001c0002t0002g0076 a0001c0003t0001g0029 others(1): Show |
4 | HG02622.hp2 HG02922.hp1 HG03225.hp1 others(1): Show |
intron_variant | MODIFIER | c.2078-432_2078-425d others(10): Show |
HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 12/20 | INFO_REALIGN_3_PRIME | chrX | 66202912 | ||||||
| chrX:66202912 | C | CATATATA others(3): Show |
3 | a0001c0002t0002g0054 a0001c0002t0002g0055 a0008c0014t0001g0079 |
3 | HG02809.hp1 HG03540.hp2 NA18906.hp2 |
intron_variant | MODIFIER | c.2078-434_2078-425d others(12): Show |
HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 12/20 | INFO_REALIGN_3_PRIME | chrX | 66202912 | ||||||
| chrX:66202912 | C | CATATATA others(5): Show |
5 | a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0149 others(2): Show |
5 | HG00738.hp1 HG01943.hp1 HG01978.hp1 others(2): Show |
intron_variant | MODIFIER | c.2078-436_2078-425d others(14): Show |
HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 12/20 | INFO_REALIGN_3_PRIME | chrX | 66202912 | ||||||
| chrX:66202912 | C | CATATATA others(7): Show |
2 | a0001c0003t0002g0210 a0001c0013t0002g0208 |
2 | HG01081.hp1 NA20129.hp1 |
intron_variant | MODIFIER | c.2078-438_2078-425d others(16): Show |
HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 12/20 | INFO_REALIGN_3_PRIME | chrX | 66202912 | ||||||
| chrX:66202912 | CAT | C | 6 | a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0150 others(3): Show |
6 | HG00639.hp1 HG00741.hp2 HG01515.hp1 others(3): Show |
intron_variant | MODIFIER | c.2078-426_2078-425d others(4): Show |
HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 12/20 | INFO_REALIGN_3_PRIME | chrX | 66202912 | ||||||
| chrX:66202936 | TATAC | T | 2 | a0001c0002t0002g0010 a0001c0002t0002g0071 |
2 | HG01243.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.2078-426_2078-423d others(6): Show |
HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 12/20 | INFO_REALIGN_3_PRIME | chrX | 66202936 | ||||||
| chrX:66202938 | T | TATATATA others(3): Show |
1 | a0001c0003t0001g0028 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.2078-425_2078-424i others(12): Show |
HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 12/20 | INFO_REALIGN_3_PRIME | chrX | 66202938 | ||||||
| chrX:66202938 | TAC | T | 9 | a0001c0001t0001g0101 a0001c0001t0001g0168 a0001c0001t0001g0188 others(6): Show |
9 | HG00639.hp2 HG01516.hp2 HG02602.hp1 others(6): Show |
intron_variant | MODIFIER | c.2078-408_2078-407d others(4): Show |
HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 12/20 | INFO_REALIGN_3_PRIME | chrX | 66202938 | ||||||
| chrX:66202940 | C | T | 72 | a0001c0002t0001g0006 a0001c0002t0001g0022 a0001c0002t0001g0023 others(69): Show |
73 | HG00099.hp2 HG00733.hp1 HG00735.hp1 others(70): Show |
intron_variant | MODIFIER | c.2078-424C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 12/20 | chrX | 66202940 | |||||||
| chrX:66202942 | C | T | 1 | a0008c0014t0001g0079 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.2078-422C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 12/20 | chrX | 66202942 | |||||||
| chrX:66202982 | A | G | 4 | a0001c0003t0002g0209 a0001c0003t0002g0210 a0001c0003t0002g0211 others(1): Show |
4 | HG00738.hp1 HG01081.hp1 HG02647.hp1 others(1): Show |
intron_variant | MODIFIER | c.2078-382A>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 12/20 | chrX | 66202982 | |||||||
| chrX:66203083 | A | G | 1 | a0001c0002t0001g0059 | 1 | HG00741.hp1 | intron_variant | MODIFIER | c.2078-281A>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 12/20 | chrX | 66203083 | |||||||
| chrX:66203109 | T | C | 4 | a0001c0002t0001g0022 a0001c0002t0001g0023 a0001c0002t0001g0024 others(1): Show |
4 | HG02630.hp1 HG02723.hp1 HG02896.hp2 others(1): Show |
intron_variant | MODIFIER | c.2078-255T>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 12/20 | chrX | 66203109 | |||||||
| chrX:66203665 | T | G | 1 | a0008c0014t0001g0079 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.2291+88T>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 13/20 | chrX | 66203665 | |||||||
| chrX:66203819 | C | T | 1 | a0001c0001t0001g0161 | 1 | HG00639.hp1 | intron_variant | MODIFIER | c.2291+242C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 13/20 | chrX | 66203819 | |||||||
| chrX:66203872 | G | A | 1 | a0001c0003t0001g0081 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.2291+295G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 13/20 | chrX | 66203872 | |||||||
| chrX:66204001 | A | T | 1 | a0001c0001t0001g0190 | 1 | NA18970.hp1 | intron_variant | MODIFIER | c.2291+424A>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 13/20 | chrX | 66204001 | |||||||
| chrX:66204446 | T | C | 18 | a0001c0002t0001g0022 a0001c0002t0001g0023 a0001c0002t0001g0024 others(15): Show |
19 | HG00735.hp1 HG01167.hp1 HG01169.hp2 others(16): Show |
intron_variant | MODIFIER | c.2291+869T>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 13/20 | chrX | 66204446 | |||||||
| chrX:66204507 | A | G | 1 | a0001c0001t0001g0134 | 1 | HG02027.hp1 | intron_variant | MODIFIER | c.2291+930A>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 13/20 | chrX | 66204507 | |||||||
| chrX:66204539 | G | A | 1 | a0001c0001t0001g0150 | 1 | NA19079.hp1 | intron_variant | MODIFIER | c.2291+962G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 13/20 | chrX | 66204539 | |||||||
| chrX:66204557 | T | C | 17 | a0001c0002t0001g0046 a0001c0002t0002g0044 a0001c0002t0002g0045 others(14): Show |
17 | HG01255.hp1 HG02109.hp1 HG02145.hp1 others(14): Show |
intron_variant | MODIFIER | c.2291+980T>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 13/20 | chrX | 66204557 | |||||||
| chrX:66204628 | C | T | 3 | a0001c0003t0001g0027 a0001c0003t0001g0078 a0001c0003t0002g0026 |
3 | HG02055.hp1 HG02109.hp2 HG03041.hp1 |
intron_variant | MODIFIER | c.2291+1051C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 13/20 | chrX | 66204628 | |||||||
| chrX:66204699 | A | T | 50 | a0001c0002t0001g0006 a0001c0002t0001g0043 a0001c0002t0001g0046 others(47): Show |
50 | HG00099.hp2 HG00733.hp1 HG00741.hp1 others(47): Show |
intron_variant | MODIFIER | c.2291+1122A>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 13/20 | chrX | 66204699 | |||||||
| chrX:66204703 | G | A | 1 | a0001c0001t0001g0182 | 1 | HG04204.hp1 | intron_variant | MODIFIER | c.2291+1126G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 13/20 | chrX | 66204703 | |||||||
| chrX:66205226 | G | A | 7 | a0001c0003t0001g0027 a0001c0003t0001g0028 a0001c0003t0001g0029 others(4): Show |
7 | HG02055.hp1 HG02109.hp2 HG02622.hp2 others(4): Show |
intron_variant | MODIFIER | c.2291+1649G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 13/20 | chrX | 66205226 | |||||||
| chrX:66205354 | C | T | 1 | a0001c0003t0001g0019 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.2291+1777C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 13/20 | chrX | 66205354 | |||||||
| chrX:66205398 | C | T | 79 | a0001c0002t0001g0006 a0001c0002t0001g0022 a0001c0002t0001g0023 others(76): Show |
80 | HG00099.hp2 HG00733.hp1 HG00735.hp1 others(77): Show |
intron_variant | MODIFIER | c.2292-1797C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 13/20 | chrX | 66205398 | |||||||
| chrX:66205549 | A | G | 2 | a0001c0002t0002g0010 a0001c0002t0002g0011 |
2 | HG01243.hp1 HG02630.hp2 |
intron_variant | MODIFIER | c.2292-1646A>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 13/20 | chrX | 66205549 | |||||||
| chrX:66205585 | G | A | 2 | a0001c0003t0001g0001 a0001c0003t0001g0021 |
3 | HG01167.hp1 HG01169.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.2292-1610G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 13/20 | chrX | 66205585 | |||||||
| chrX:66205600 | C | CT | 18 | a0001c0001t0001g0101 a0001c0001t0001g0205 a0001c0002t0002g0044 others(15): Show |
18 | HG01255.hp1 HG01516.hp2 HG02109.hp1 others(15): Show |
intron_variant | MODIFIER | c.2292-1582dupT | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 13/20 | INFO_REALIGN_3_PRIME | chrX | 66205600 | ||||||
| chrX:66205811 | A | C | 2 | a0001c0002t0002g0035 a0001c0002t0002g0036 |
2 | HG01884.hp2 HG02257.hp1 |
intron_variant | MODIFIER | c.2292-1384A>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 13/20 | chrX | 66205811 | |||||||
| chrX:66205962 | G | T | 4 | a0001c0002t0002g0037 a0001c0002t0002g0038 a0001c0002t0003g0032 others(1): Show |
4 | HG02280.hp1 HG02922.hp2 HG03209.hp1 others(1): Show |
intron_variant | MODIFIER | c.2292-1233G>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 13/20 | chrX | 66205962 | |||||||
| chrX:66205969 | A | G | 4 | a0001c0001t0001g0156 a0001c0001t0001g0174 a0001c0001t0001g0203 others(1): Show |
4 | HG00733.hp2 HG01070.hp2 HG01074.hp1 others(1): Show |
intron_variant | MODIFIER | c.2292-1226A>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 13/20 | chrX | 66205969 | |||||||
| chrX:66206074 | G | T | 72 | a0001c0002t0001g0006 a0001c0002t0001g0022 a0001c0002t0001g0023 others(69): Show |
73 | HG00099.hp2 HG00733.hp1 HG00735.hp1 others(70): Show |
intron_variant | MODIFIER | c.2292-1121G>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 13/20 | chrX | 66206074 | |||||||
| chrX:66206244 | A | T | 3 | a0001c0003t0001g0027 a0001c0003t0001g0078 a0001c0003t0002g0026 |
3 | HG02055.hp1 HG02109.hp2 HG03041.hp1 |
intron_variant | MODIFIER | c.2292-951A>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 13/20 | chrX | 66206244 | |||||||
| chrX:66206304 | G | A | 1 | a0001c0002t0002g0033 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.2292-891G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 13/20 | chrX | 66206304 | |||||||
| chrX:66206334 | G | T | 1 | a0001c0003t0001g0002 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.2292-861G>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 13/20 | chrX | 66206334 | |||||||
| chrX:66206339 | C | CT | 24 | a0001c0001t0001g0091 a0001c0001t0001g0104 a0001c0001t0001g0116 others(21): Show |
24 | HG00099.hp1 HG00597.hp2 HG00609.hp1 others(21): Show |
intron_variant | MODIFIER | c.2292-813dupT | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 13/20 | INFO_REALIGN_3_PRIME | chrX | 66206339 | ||||||
| chrX:66206339 | C | CTT | 10 | a0001c0001t0001g0098 a0001c0001t0001g0121 a0001c0001t0001g0130 others(7): Show |
10 | HG01169.hp1 HG01256.hp1 HG01496.hp2 others(7): Show |
intron_variant | MODIFIER | c.2292-814_2292-813d others(4): Show |
HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 13/20 | INFO_REALIGN_3_PRIME | chrX | 66206339 | ||||||
| chrX:66206339 | C | CTTT | 30 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0087 others(27): Show |
30 | HG00099.hp2 HG00597.hp1 HG01884.hp1 others(27): Show |
intron_variant | MODIFIER | c.2292-815_2292-813d others(5): Show |
HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 13/20 | INFO_REALIGN_3_PRIME | chrX | 66206339 | ||||||
| chrX:66206339 | C | CTTTT | 16 | a0001c0001t0001g0003 a0001c0001t0001g0086 a0001c0001t0001g0107 others(13): Show |
16 | HG00733.hp1 HG01069.hp1 HG01070.hp2 others(13): Show |
intron_variant | MODIFIER | c.2292-816_2292-813d others(6): Show |
HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 13/20 | INFO_REALIGN_3_PRIME | chrX | 66206339 | ||||||
| chrX:66206339 | C | CTTTTT | 17 | a0001c0001t0001g0090 a0001c0001t0001g0097 a0001c0001t0001g0109 others(14): Show |
17 | HG00673.hp1 HG00733.hp2 HG00735.hp2 others(14): Show |
intron_variant | MODIFIER | c.2292-817_2292-813d others(7): Show |
HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 13/20 | INFO_REALIGN_3_PRIME | chrX | 66206339 | ||||||
| chrX:66206339 | C | CTTTTTT | 6 | a0001c0001t0001g0085 a0001c0001t0001g0119 a0001c0001t0001g0165 others(3): Show |
6 | HG00639.hp2 HG00642.hp1 HG01496.hp1 others(3): Show |
intron_variant | MODIFIER | c.2292-818_2292-813d others(8): Show |
HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 13/20 | INFO_REALIGN_3_PRIME | chrX | 66206339 | ||||||
| chrX:66206339 | C | CTTTTTTT | 5 | a0001c0001t0001g0101 a0001c0001t0001g0181 a0001c0002t0001g0043 others(2): Show |
5 | HG00140.hp1 HG01516.hp2 HG02257.hp2 others(2): Show |
intron_variant | MODIFIER | c.2292-819_2292-813d others(9): Show |
HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 13/20 | INFO_REALIGN_3_PRIME | chrX | 66206339 | ||||||
| chrX:66206339 | C | CTTTTTTT others(1): Show |
7 | a0001c0001t0001g0094 a0001c0001t0001g0111 a0001c0001t0001g0133 others(4): Show |
7 | HG02004.hp2 HG02132.hp1 HG02273.hp1 others(4): Show |
intron_variant | MODIFIER | c.2292-820_2292-813d others(10): Show |
HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 13/20 | INFO_REALIGN_3_PRIME | chrX | 66206339 | ||||||
| chrX:66206339 | C | CTTTTTTT others(3): Show |
3 | a0001c0001t0001g0102 a0001c0001t0001g0171 a0004c0007t0001g0167 |
3 | HG00741.hp2 NA18974.hp1 NA18984.hp1 |
intron_variant | MODIFIER | c.2292-822_2292-813d others(12): Show |
HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 13/20 | INFO_REALIGN_3_PRIME | chrX | 66206339 | ||||||
| chrX:66206339 | C | CTTTTTTT others(4): Show |
3 | a0001c0001t0001g0189 a0001c0002t0001g0006 a0001c0002t0001g0058 |
3 | HG01081.hp2 HG01106.hp1 HG01358.hp1 |
intron_variant | MODIFIER | c.2292-823_2292-813d others(13): Show |
HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 13/20 | INFO_REALIGN_3_PRIME | chrX | 66206339 | ||||||
| chrX:66206339 | CT | C | 21 | a0001c0001t0001g0089 a0001c0001t0001g0106 a0001c0001t0001g0108 others(18): Show |
21 | HG00280.hp1 HG01884.hp2 HG01891.hp2 others(18): Show |
intron_variant | MODIFIER | c.2292-813delT | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 13/20 | INFO_REALIGN_3_PRIME | chrX | 66206339 | ||||||
| chrX:66206339 | CTTTTTTT others(4): Show |
C | 1 | a0001c0002t0002g0047 | 1 | HG01255.hp1 | intron_variant | MODIFIER | c.2292-823_2292-813d others(13): Show |
HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 13/20 | INFO_REALIGN_3_PRIME | chrX | 66206339 | ||||||
| chrX:66206339 | CTTTTTTT others(5): Show |
C | 4 | a0001c0001t0001g0095 a0001c0001t0001g0114 a0001c0001t0001g0157 others(1): Show |
4 | HG01952.hp1 HG02273.hp2 NA18944.hp1 others(1): Show |
intron_variant | MODIFIER | c.2292-824_2292-813d others(14): Show |
HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 13/20 | INFO_REALIGN_3_PRIME | chrX | 66206339 | ||||||
| chrX:66206339 | CTTTTTTT others(6): Show |
C | 3 | a0001c0001t0001g0113 a0001c0003t0001g0078 a0001c0003t0001g0081 |
3 | HG01070.hp1 HG02055.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.2292-825_2292-813d others(15): Show |
HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 13/20 | INFO_REALIGN_3_PRIME | chrX | 66206339 | ||||||
| chrX:66206339 | CTTTTTTT others(7): Show |
C | 11 | a0001c0003t0001g0002 a0001c0003t0001g0017 a0001c0003t0001g0019 others(8): Show |
11 | HG00735.hp1 HG01891.hp1 HG02109.hp2 others(8): Show |
intron_variant | MODIFIER | c.2292-826_2292-813d others(16): Show |
HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 13/20 | INFO_REALIGN_3_PRIME | chrX | 66206339 | ||||||
| chrX:66206339 | CTTTTTTT others(8): Show |
C | 8 | a0001c0003t0001g0018 a0001c0003t0001g0020 a0001c0003t0001g0028 others(5): Show |
8 | HG02451.hp1 HG02622.hp2 HG02896.hp1 others(5): Show |
intron_variant | MODIFIER | c.2292-827_2292-813d others(17): Show |
HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 13/20 | INFO_REALIGN_3_PRIME | chrX | 66206339 | ||||||
| chrX:66206339 | CTTTTTTT others(9): Show |
C | 7 | a0001c0001t0001g0100 a0001c0001t0001g0183 a0001c0003t0001g0031 others(4): Show |
7 | HG00738.hp1 HG01081.hp1 HG02129.hp1 others(4): Show |
intron_variant | MODIFIER | c.2292-828_2292-813d others(18): Show |
HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 13/20 | INFO_REALIGN_3_PRIME | chrX | 66206339 | ||||||
| chrX:66206339 | CTTTTTTT others(17): Show |
C | 1 | a0001c0003t0001g0001 | 2 | HG01167.hp1 HG01169.hp2 |
intron_variant | MODIFIER | c.2292-836_2292-813d others(26): Show |
HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 13/20 | INFO_REALIGN_3_PRIME | chrX | 66206339 | ||||||
| chrX:66206339 | CTTTTTTT others(18): Show |
C | 1 | a0001c0003t0001g0021 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.2292-837_2292-813d others(27): Show |
HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 13/20 | INFO_REALIGN_3_PRIME | chrX | 66206339 | ||||||
| chrX:66206539 | T | A | 2 | a0001c0002t0001g0043 a0001c0002t0001g0215 |
2 | HG02280.hp2 HG02886.hp2 |
intron_variant | MODIFIER | c.2292-656T>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 13/20 | chrX | 66206539 | |||||||
| chrX:66206924 | G | A | 3 | a0001c0001t0001g0086 a0001c0001t0001g0126 a0001c0001t0001g0127 |
3 | NA18943.hp1 NA18961.hp1 NA18990.hp1 |
intron_variant | MODIFIER | c.2292-271G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 13/20 | chrX | 66206924 | |||||||
| chrX:66207070 | T | C | 2 | a0001c0001t0001g0170 a0001c0001t0001g0171 |
2 | HG00741.hp2 HG01515.hp1 |
intron_variant | MODIFIER | c.2292-125T>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 13/20 | chrX | 66207070 | |||||||
| chrX:66207079 | T | C | 2 | a0001c0001t0001g0116 a0001c0001t0001g0117 |
2 | HG02615.hp1 HG03041.hp2 |
intron_variant | MODIFIER | c.2292-116T>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 13/20 | chrX | 66207079 | |||||||
| chrX:66207476 | C | A | 3 | a0001c0003t0001g0027 a0001c0003t0001g0078 a0001c0003t0002g0026 |
3 | HG02055.hp1 HG02109.hp2 HG03041.hp1 |
intron_variant | MODIFIER | c.2431+142C>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 14/20 | chrX | 66207476 | |||||||
| chrX:66207481 | A | G | 1 | a0001c0001t0001g0183 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.2431+147A>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 14/20 | chrX | 66207481 | |||||||
| chrX:66207509 | G | A | 1 | a0002c0004t0002g0014 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.2431+175G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 14/20 | chrX | 66207509 | |||||||
| chrX:66207512 | AATC | A | 4 | a0001c0003t0002g0209 a0001c0003t0002g0210 a0001c0003t0002g0211 others(1): Show |
4 | HG00738.hp1 HG01081.hp1 HG02647.hp1 others(1): Show |
intron_variant | MODIFIER | c.2431+181_2431+183d others(5): Show |
HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 14/20 | INFO_REALIGN_3_PRIME | chrX | 66207512 | ||||||
| chrX:66207589 | A | G | 14 | a0001c0003t0001g0001 a0001c0003t0001g0002 a0001c0003t0001g0017 others(11): Show |
15 | HG00735.hp1 HG01167.hp1 HG01169.hp2 others(12): Show |
intron_variant | MODIFIER | c.2431+255A>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 14/20 | chrX | 66207589 | |||||||
| chrX:66207672 | G | T | 4 | a0001c0002t0002g0040 a0001c0002t0002g0041 a0001c0002t0002g0042 others(1): Show |
4 | HG01884.hp1 HG02257.hp2 HG02451.hp2 others(1): Show |
intron_variant | MODIFIER | c.2431+338G>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 14/20 | chrX | 66207672 | |||||||
| chrX:66207676 | C | T | 1 | a0008c0014t0001g0079 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.2431+342C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 14/20 | chrX | 66207676 | |||||||
| chrX:66207731 | A | G | 14 | a0001c0003t0001g0001 a0001c0003t0001g0002 a0001c0003t0001g0017 others(11): Show |
15 | HG00735.hp1 HG01167.hp1 HG01169.hp2 others(12): Show |
intron_variant | MODIFIER | c.2432-384A>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 14/20 | chrX | 66207731 | |||||||
| chrX:66207739 | A | C | 1 | a0008c0014t0001g0079 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.2432-376A>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 14/20 | chrX | 66207739 | |||||||
| chrX:66207771 | A | T | 3 | a0001c0003t0001g0081 a0001c0003t0002g0082 a0001c0010t0001g0080 |
3 | HG02615.hp2 HG03130.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.2432-344A>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 14/20 | chrX | 66207771 | |||||||
| chrX:66207910 | C | T | 7 | a0001c0003t0001g0027 a0001c0003t0001g0028 a0001c0003t0001g0029 others(4): Show |
7 | HG02055.hp1 HG02109.hp2 HG02622.hp2 others(4): Show |
intron_variant | MODIFIER | c.2432-205C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 14/20 | chrX | 66207910 | |||||||
| chrX:66207963 | G | A | 3 | a0001c0003t0002g0209 a0001c0003t0002g0210 a0001c0003t0002g0211 |
3 | HG00738.hp1 HG01081.hp1 HG02647.hp1 |
intron_variant | MODIFIER | c.2432-152G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 14/20 | chrX | 66207963 | |||||||
| chrX:66208256 | G | A | 4 | a0001c0003t0002g0209 a0001c0003t0002g0210 a0001c0003t0002g0211 others(1): Show |
4 | HG00738.hp1 HG01081.hp1 HG02647.hp1 others(1): Show |
intron_variant | MODIFIER | c.2563+10G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66208256 | |||||||
| chrX:66208631 | C | CAT | 2 | a0001c0001t0001g0113 a0001c0001t0001g0141 |
2 | HG01070.hp1 HG02056.hp1 |
intron_variant | MODIFIER | c.2563+430_2563+431d others(4): Show |
HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chrX | 66208631 | ||||||
| chrX:66208631 | C | CATAT | 4 | a0001c0001t0001g0125 a0001c0001t0001g0134 a0001c0001t0001g0206 others(1): Show |
4 | HG00621.hp1 HG02027.hp1 HG02723.hp1 others(1): Show |
intron_variant | MODIFIER | c.2563+428_2563+431d others(6): Show |
HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chrX | 66208631 | ||||||
| chrX:66208631 | C | CATATAT | 5 | a0001c0001t0001g0122 a0001c0001t0001g0146 a0001c0001t0001g0162 others(2): Show |
5 | HG01257.hp2 HG01258.hp1 NA18949.hp1 others(2): Show |
intron_variant | MODIFIER | c.2563+426_2563+431d others(8): Show |
HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chrX | 66208631 | ||||||
| chrX:66208631 | CATAT | C | 56 | a0001c0001t0001g0099 a0001c0001t0001g0102 a0001c0001t0001g0106 others(53): Show |
56 | HG00099.hp2 HG00140.hp1 HG00733.hp1 others(53): Show |
intron_variant | MODIFIER | c.2563+428_2563+431d others(6): Show |
HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chrX | 66208631 | ||||||
| chrX:66208631 | CATATAT | C | 25 | a0001c0001t0001g0085 a0001c0001t0001g0091 a0001c0001t0001g0096 others(22): Show |
25 | HG00733.hp2 HG00741.hp1 HG01109.hp1 others(22): Show |
intron_variant | MODIFIER | c.2563+426_2563+431d others(8): Show |
HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chrX | 66208631 | ||||||
| chrX:66208631 | CATATATA others(1): Show |
C | 8 | a0001c0001t0001g0105 a0001c0001t0001g0130 a0001c0001t0001g0213 others(5): Show |
8 | HG01081.hp2 HG01243.hp1 HG02145.hp1 others(5): Show |
intron_variant | MODIFIER | c.2563+424_2563+431d others(10): Show |
HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chrX | 66208631 | ||||||
| chrX:66208631 | CATATATA others(3): Show |
C | 2 | a0001c0001t0001g0200 a0001c0002t0002g0071 |
2 | HG03490.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.2563+422_2563+431d others(12): Show |
HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chrX | 66208631 | ||||||
| chrX:66208631 | CATATATA others(5): Show |
C | 3 | a0001c0001t0001g0090 a0001c0001t0002g0092 a0006c0008t0001g0115 |
3 | HG00280.hp1 HG00673.hp1 NA19005.hp1 |
intron_variant | MODIFIER | c.2563+420_2563+431d others(14): Show |
HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chrX | 66208631 | ||||||
| chrX:66208631 | CATATATA others(13): Show |
C | 3 | a0001c0002t0002g0044 a0001c0002t0002g0050 a0001c0002t0002g0051 |
3 | HG02723.hp2 HG02895.hp1 HG02976.hp1 |
intron_variant | MODIFIER | c.2563+412_2563+431d others(22): Show |
HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chrX | 66208631 | ||||||
| chrX:66208631 | CATATATA others(15): Show |
C | 6 | a0001c0003t0001g0027 a0001c0003t0001g0028 a0001c0003t0001g0029 others(3): Show |
6 | HG01081.hp1 HG02109.hp2 HG02622.hp2 others(3): Show |
intron_variant | MODIFIER | c.2563+410_2563+431d others(24): Show |
HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chrX | 66208631 | ||||||
| chrX:66208631 | CATATATA others(17): Show |
C | 8 | a0001c0003t0001g0017 a0001c0003t0001g0021 a0001c0003t0001g0078 others(5): Show |
8 | HG00738.hp1 HG02055.hp1 HG02622.hp1 others(5): Show |
intron_variant | MODIFIER | c.2563+408_2563+431d others(26): Show |
HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chrX | 66208631 | ||||||
| chrX:66208631 | CATATATA others(19): Show |
C | 11 | a0001c0003t0001g0001 a0001c0003t0001g0002 a0001c0003t0001g0018 others(8): Show |
12 | HG00735.hp1 HG01167.hp1 HG01169.hp2 others(9): Show |
intron_variant | MODIFIER | c.2563+406_2563+431d others(28): Show |
HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chrX | 66208631 | ||||||
| chrX:66208631 | CATATATA others(21): Show |
C | 3 | a0001c0003t0001g0081 a0001c0003t0002g0082 a0001c0010t0001g0080 |
3 | HG02615.hp2 HG03130.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.2563+404_2563+431d others(30): Show |
HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chrX | 66208631 | ||||||
| chrX:66208631 | CATATATA others(23): Show |
C | 1 | a0001c0001t0001g0135 | 1 | HG02004.hp1 | intron_variant | MODIFIER | c.2563+402_2563+431d others(32): Show |
HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chrX | 66208631 | ||||||
| chrX:66208635 | T | C | 1 | a0001c0002t0002g0009 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.2563+389T>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66208635 | |||||||
| chrX:66208639 | T | C | 1 | a0001c0001t0001g0176 | 1 | NA19088.hp1 | intron_variant | MODIFIER | c.2563+393T>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66208639 | |||||||
| chrX:66208687 | G | T | 57 | a0001c0002t0001g0006 a0001c0002t0001g0022 a0001c0002t0001g0023 others(54): Show |
57 | HG00099.hp2 HG00733.hp1 HG00741.hp1 others(54): Show |
intron_variant | MODIFIER | c.2563+441G>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66208687 | |||||||
| chrX:66209119 | C | T | 4 | a0001c0003t0002g0209 a0001c0003t0002g0210 a0001c0003t0002g0211 others(1): Show |
4 | HG00738.hp1 HG01081.hp1 HG02647.hp1 others(1): Show |
intron_variant | MODIFIER | c.2563+873C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66209119 | |||||||
| chrX:66209155 | A | G | 9 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(6): Show |
9 | HG00621.hp1 HG02132.hp1 NA18747.hp1 others(6): Show |
intron_variant | MODIFIER | c.2563+909A>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66209155 | |||||||
| chrX:66209606 | G | T | 1 | a0009c0009t0001g0160 | 1 | NA18983.hp1 | intron_variant | MODIFIER | c.2563+1360G>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66209606 | |||||||
| chrX:66209622 | G | T | 1 | a0001c0002t0002g0011 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.2563+1376G>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66209622 | |||||||
| chrX:66210342 | G | A | 2 | a0001c0001t0001g0090 a0001c0001t0002g0092 |
2 | HG00673.hp1 NA19005.hp1 |
intron_variant | MODIFIER | c.2563+2096G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66210342 | |||||||
| chrX:66210623 | G | T | 2 | a0001c0003t0002g0007 a0001c0003t0002g0008 |
2 | HG00735.hp1 HG02896.hp1 |
intron_variant | MODIFIER | c.2563+2377G>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66210623 | |||||||
| chrX:66210663 | G | T | 1 | a0001c0003t0001g0019 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.2563+2417G>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66210663 | |||||||
| chrX:66210963 | C | T | 2 | a0001c0001t0001g0203 a0001c0001t0001g0204 |
2 | HG01070.hp2 HG01074.hp1 |
intron_variant | MODIFIER | c.2563+2717C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66210963 | |||||||
| chrX:66211415 | C | A | 1 | a0001c0001t0001g0161 | 1 | HG00639.hp1 | intron_variant | MODIFIER | c.2563+3169C>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66211415 | |||||||
| chrX:66211423 | G | T | 13 | a0001c0003t0001g0001 a0001c0003t0001g0002 a0001c0003t0001g0018 others(10): Show |
14 | HG00735.hp1 HG01167.hp1 HG01169.hp2 others(11): Show |
intron_variant | MODIFIER | c.2563+3177G>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66211423 | |||||||
| chrX:66211450 | G | C | 10 | a0001c0003t0001g0018 a0001c0003t0001g0019 a0001c0003t0001g0020 others(7): Show |
10 | HG00735.hp1 HG01891.hp1 HG02258.hp1 others(7): Show |
intron_variant | MODIFIER | c.2563+3204G>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66211450 | |||||||
| chrX:66211685 | G | T | 1 | a0001c0002t0002g0063 | 1 | HG01993.hp1 | intron_variant | MODIFIER | c.2563+3439G>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66211685 | |||||||
| chrX:66211804 | G | A | 1 | a0001c0003t0002g0209 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.2563+3558G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66211804 | |||||||
| chrX:66211864 | A | T | 57 | a0001c0002t0001g0006 a0001c0002t0001g0022 a0001c0002t0001g0023 others(54): Show |
57 | HG00099.hp2 HG00733.hp1 HG00741.hp1 others(54): Show |
intron_variant | MODIFIER | c.2563+3618A>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66211864 | |||||||
| chrX:66211883 | A | G | 2 | a0001c0002t0001g0043 a0001c0002t0001g0215 |
2 | HG02280.hp2 HG02886.hp2 |
intron_variant | MODIFIER | c.2563+3637A>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66211883 | |||||||
| chrX:66212186 | G | GT | 9 | a0001c0001t0001g0117 a0001c0001t0001g0145 a0001c0001t0001g0155 others(6): Show |
9 | HG00733.hp2 HG01106.hp1 HG01433.hp1 others(6): Show |
intron_variant | MODIFIER | c.2563+3954dupT | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chrX | 66212186 | ||||||
| chrX:66212186 | GT | G | 11 | a0001c0001t0001g0091 a0001c0001t0001g0122 a0001c0001t0001g0168 others(8): Show |
11 | HG02109.hp2 HG02165.hp1 HG02622.hp2 others(8): Show |
intron_variant | MODIFIER | c.2563+3954delT | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chrX | 66212186 | ||||||
| chrX:66212186 | GTT | G | 43 | a0001c0002t0001g0006 a0001c0002t0001g0022 a0001c0002t0001g0023 others(40): Show |
44 | HG00741.hp1 HG01081.hp2 HG01167.hp1 others(41): Show |
intron_variant | MODIFIER | c.2563+3953_2563+395 others(6): Show |
HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chrX | 66212186 | ||||||
| chrX:66212186 | GTTT | G | 28 | a0001c0002t0002g0010 a0001c0002t0002g0011 a0001c0002t0002g0040 others(25): Show |
28 | HG00099.hp2 HG00733.hp1 HG00735.hp1 others(25): Show |
intron_variant | MODIFIER | c.2563+3952_2563+395 others(7): Show |
HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chrX | 66212186 | ||||||
| chrX:66212275 | T | C | 1 | a0001c0001t0001g0169 | 1 | HG02132.hp1 | intron_variant | MODIFIER | c.2563+4029T>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66212275 | |||||||
| chrX:66212689 | T | A | 1 | a0001c0002t0002g0033 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.2563+4443T>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66212689 | |||||||
| chrX:66212730 | T | C | 1 | a0001c0003t0001g0002 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.2563+4484T>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66212730 | |||||||
| chrX:66212743 | A | T | 1 | a0001c0003t0002g0210 | 1 | HG01081.hp1 | intron_variant | MODIFIER | c.2563+4497A>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66212743 | |||||||
| chrX:66212914 | G | C | 1 | a0001c0003t0001g0001 | 2 | HG01167.hp1 HG01169.hp2 |
intron_variant | MODIFIER | c.2563+4668G>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66212914 | |||||||
| chrX:66213002 | GT | G | 8 | a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0133 others(5): Show |
8 | HG00738.hp1 HG01081.hp1 HG02647.hp1 others(5): Show |
intron_variant | MODIFIER | c.2563+4764delT | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chrX | 66213002 | ||||||
| chrX:66213109 | G | T | 1 | a0001c0002t0002g0039 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.2563+4863G>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66213109 | |||||||
| chrX:66213169 | T | G | 7 | a0001c0003t0001g0027 a0001c0003t0001g0028 a0001c0003t0001g0029 others(4): Show |
7 | HG02055.hp1 HG02109.hp2 HG02622.hp2 others(4): Show |
intron_variant | MODIFIER | c.2563+4923T>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66213169 | |||||||
| chrX:66213220 | T | C | 1 | a0001c0001t0001g0109 | 1 | NA18945.hp1 | intron_variant | MODIFIER | c.2563+4974T>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66213220 | |||||||
| chrX:66213280 | C | T | 6 | a0001c0003t0002g0012 a0001c0003t0002g0016 a0001c0003t0002g0210 others(3): Show |
6 | HG01081.hp1 HG01891.hp1 HG02717.hp1 others(3): Show |
intron_variant | MODIFIER | c.2563+5034C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66213280 | |||||||
| chrX:66213303 | T | C | 1 | a0001c0002t0002g0009 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.2563+5057T>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66213303 | |||||||
| chrX:66213452 | A | G | 11 | a0001c0003t0001g0002 a0001c0003t0001g0018 a0001c0003t0001g0019 others(8): Show |
11 | HG00735.hp1 HG01891.hp1 HG02258.hp1 others(8): Show |
intron_variant | MODIFIER | c.2563+5206A>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66213452 | |||||||
| chrX:66213695 | T | C | 1 | a0001c0002t0002g0064 | 1 | HG01978.hp2 | intron_variant | MODIFIER | c.2563+5449T>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66213695 | |||||||
| chrX:66213697 | A | G | 57 | a0001c0002t0001g0006 a0001c0002t0001g0022 a0001c0002t0001g0023 others(54): Show |
57 | HG00099.hp2 HG00733.hp1 HG00741.hp1 others(54): Show |
intron_variant | MODIFIER | c.2563+5451A>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66213697 | |||||||
| chrX:66213839 | A | G | 1 | a0001c0002t0002g0045 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.2563+5593A>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66213839 | |||||||
| chrX:66214015 | C | T | 6 | a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0179 others(3): Show |
6 | HG02015.hp1 HG02074.hp1 HG02165.hp2 others(3): Show |
intron_variant | MODIFIER | c.2563+5769C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66214015 | |||||||
| chrX:66214033 | C | T | 1 | a0001c0001t0001g0106 | 1 | NA18965.hp1 | intron_variant | MODIFIER | c.2563+5787C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66214033 | |||||||
| chrX:66214063 | T | A | 1 | a0001c0002t0002g0011 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.2563+5817T>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66214063 | |||||||
| chrX:66214328 | C | T | 1 | a0001c0001t0001g0179 | 1 | HG02165.hp2 | intron_variant | MODIFIER | c.2563+6082C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66214328 | |||||||
| chrX:66214422 | G | A | 5 | a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 others(2): Show |
5 | HG00639.hp1 HG01257.hp2 HG01258.hp1 others(2): Show |
intron_variant | MODIFIER | c.2563+6176G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66214422 | |||||||
| chrX:66214727 | ATTTTC | A | 57 | a0001c0002t0001g0006 a0001c0002t0001g0022 a0001c0002t0001g0023 others(54): Show |
57 | HG00099.hp2 HG00733.hp1 HG00741.hp1 others(54): Show |
intron_variant | MODIFIER | c.2563+6484_2563+648 others(9): Show |
HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chrX | 66214727 | ||||||
| chrX:66214787 | C | T | 1 | a0001c0001t0001g0004 | 1 | NA18994.hp1 | intron_variant | MODIFIER | c.2563+6541C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66214787 | |||||||
| chrX:66215415 | T | G | 57 | a0001c0002t0001g0006 a0001c0002t0001g0022 a0001c0002t0001g0023 others(54): Show |
57 | HG00099.hp2 HG00733.hp1 HG00741.hp1 others(54): Show |
intron_variant | MODIFIER | c.2563+7169T>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66215415 | |||||||
| chrX:66215887 | C | T | 1 | a0001c0001t0001g0196 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.2563+7641C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66215887 | |||||||
| chrX:66216291 | T | C | 1 | a0001c0001t0001g0110 | 1 | NA18955.hp1 | intron_variant | MODIFIER | c.2563+8045T>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66216291 | |||||||
| chrX:66216313 | G | A | 1 | a0001c0002t0002g0050 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.2563+8067G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66216313 | |||||||
| chrX:66216387 | A | C | 1 | a0001c0001t0001g0095 | 1 | HG01952.hp1 | intron_variant | MODIFIER | c.2563+8141A>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66216387 | |||||||
| chrX:66216732 | G | A | 1 | a0008c0014t0001g0079 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.2563+8486G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66216732 | |||||||
| chrX:66216791 | G | T | 4 | a0001c0003t0002g0209 a0001c0003t0002g0210 a0001c0003t0002g0211 others(1): Show |
4 | HG00738.hp1 HG01081.hp1 HG02647.hp1 others(1): Show |
intron_variant | MODIFIER | c.2563+8545G>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66216791 | |||||||
| chrX:66217034 | G | C | 1 | a0001c0002t0002g0011 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.2563+8788G>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66217034 | |||||||
| chrX:66217053 | G | T | 1 | a0005c0005t0001g0185 | 1 | NA19055.hp1 | intron_variant | MODIFIER | c.2563+8807G>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66217053 | |||||||
| chrX:66217154 | G | A | 28 | a0001c0003t0001g0001 a0001c0003t0001g0002 a0001c0003t0001g0017 others(25): Show |
29 | HG00735.hp1 HG00738.hp1 HG01081.hp1 others(26): Show |
intron_variant | MODIFIER | c.2563+8908G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66217154 | |||||||
| chrX:66217213 | G | T | 1 | a0001c0001t0001g0196 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.2563+8967G>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66217213 | |||||||
| chrX:66217591 | T | C | 57 | a0001c0002t0001g0006 a0001c0002t0001g0022 a0001c0002t0001g0023 others(54): Show |
57 | HG00099.hp2 HG00733.hp1 HG00741.hp1 others(54): Show |
intron_variant | MODIFIER | c.2563+9345T>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66217591 | |||||||
| chrX:66217638 | G | C | 14 | a0001c0003t0001g0001 a0001c0003t0001g0002 a0001c0003t0001g0017 others(11): Show |
15 | HG00735.hp1 HG01167.hp1 HG01169.hp2 others(12): Show |
intron_variant | MODIFIER | c.2563+9392G>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66217638 | |||||||
| chrX:66217897 | A | C | 1 | a0001c0003t0001g0019 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.2563+9651A>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66217897 | |||||||
| chrX:66218325 | C | G | 3 | a0001c0003t0001g0081 a0001c0003t0002g0082 a0001c0010t0001g0080 |
3 | HG02615.hp2 HG03130.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.2563+10079C>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66218325 | |||||||
| chrX:66218741 | A | G | 1 | a0001c0002t0002g0061 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.2563+10495A>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66218741 | |||||||
| chrX:66218753 | G | A | 1 | a0001c0001t0001g0148 | 1 | HG00597.hp1 | intron_variant | MODIFIER | c.2563+10507G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66218753 | |||||||
| chrX:66218774 | C | T | 57 | a0001c0002t0001g0006 a0001c0002t0001g0022 a0001c0002t0001g0023 others(54): Show |
57 | HG00099.hp2 HG00733.hp1 HG00741.hp1 others(54): Show |
intron_variant | MODIFIER | c.2563+10528C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66218774 | |||||||
| chrX:66218851 | CAT | C | 54 | a0001c0002t0001g0006 a0001c0002t0001g0022 a0001c0002t0001g0023 others(51): Show |
54 | HG00099.hp2 HG00733.hp1 HG00741.hp1 others(51): Show |
intron_variant | MODIFIER | c.2563+10607_2563+10 others(8): Show |
HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chrX | 66218851 | ||||||
| chrX:66218967 | G | A | 1 | a0008c0014t0001g0079 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.2563+10721G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66218967 | |||||||
| chrX:66218981 | A | G | 1 | a0001c0003t0001g0081 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.2563+10735A>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66218981 | |||||||
| chrX:66219120 | G | C | 1 | a0001c0002t0002g0054 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.2563+10874G>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66219120 | |||||||
| chrX:66219179 | A | G | 86 | a0001c0002t0001g0006 a0001c0002t0001g0022 a0001c0002t0001g0023 others(83): Show |
87 | HG00099.hp2 HG00733.hp1 HG00735.hp1 others(84): Show |
intron_variant | MODIFIER | c.2563+10933A>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66219179 | |||||||
| chrX:66219392 | TAGTA | T | 2 | a0001c0001t0001g0116 a0001c0001t0001g0117 |
2 | HG02615.hp1 HG03041.hp2 |
intron_variant | MODIFIER | c.2563+11149_2563+11 others(10): Show |
HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chrX | 66219392 | ||||||
| chrX:66219414 | G | A | 3 | a0001c0003t0001g0028 a0001c0003t0001g0029 a0001c0003t0001g0030 |
3 | HG02622.hp2 HG02922.hp1 HG03098.hp1 |
intron_variant | MODIFIER | c.2563+11168G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66219414 | |||||||
| chrX:66219529 | G | A | 1 | a0001c0001t0001g0189 | 1 | HG01106.hp1 | intron_variant | MODIFIER | c.2563+11283G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66219529 | |||||||
| chrX:66219598 | C | T | 3 | a0001c0001t0001g0095 a0001c0001t0001g0113 a0001c0001t0001g0114 |
3 | HG01070.hp1 HG01952.hp1 HG02273.hp2 |
intron_variant | MODIFIER | c.2563+11352C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66219598 | |||||||
| chrX:66219622 | C | T | 57 | a0001c0002t0001g0006 a0001c0002t0001g0022 a0001c0002t0001g0023 others(54): Show |
57 | HG00099.hp2 HG00733.hp1 HG00741.hp1 others(54): Show |
intron_variant | MODIFIER | c.2563+11376C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66219622 | |||||||
| chrX:66219807 | G | A | 57 | a0001c0002t0001g0006 a0001c0002t0001g0022 a0001c0002t0001g0023 others(54): Show |
57 | HG00099.hp2 HG00733.hp1 HG00741.hp1 others(54): Show |
intron_variant | MODIFIER | c.2563+11561G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66219807 | |||||||
| chrX:66219911 | G | A | 1 | a0001c0001t0001g0168 | 1 | NA18949.hp1 | intron_variant | MODIFIER | c.2563+11665G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66219911 | |||||||
| chrX:66220762 | A | G | 1 | a0001c0003t0001g0002 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.2563+12516A>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66220762 | |||||||
| chrX:66220923 | C | T | 2 | a0001c0001t0001g0159 a0009c0009t0001g0160 |
2 | NA18983.hp1 NA18986.hp1 |
intron_variant | MODIFIER | c.2563+12677C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66220923 | |||||||
| chrX:66220965 | AT | A | 3 | a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0149 |
3 | HG01943.hp1 HG01978.hp1 HG02004.hp1 |
intron_variant | MODIFIER | c.2563+12724delT | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chrX | 66220965 | ||||||
| chrX:66221129 | G | A | 3 | a0001c0003t0001g0081 a0001c0003t0002g0082 a0001c0010t0001g0080 |
3 | HG02615.hp2 HG03130.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.2563+12883G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66221129 | |||||||
| chrX:66221180 | G | A | 57 | a0001c0002t0001g0006 a0001c0002t0001g0022 a0001c0002t0001g0023 others(54): Show |
57 | HG00099.hp2 HG00733.hp1 HG00741.hp1 others(54): Show |
intron_variant | MODIFIER | c.2563+12934G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66221180 | |||||||
| chrX:66221432 | G | A | 4 | a0001c0002t0002g0037 a0001c0002t0002g0038 a0001c0002t0003g0032 others(1): Show |
4 | HG02280.hp1 HG02922.hp2 HG03209.hp1 others(1): Show |
intron_variant | MODIFIER | c.2563+13186G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66221432 | |||||||
| chrX:66221509 | G | T | 1 | a0001c0001t0001g0112 | 1 | HG03834.hp1 | intron_variant | MODIFIER | c.2563+13263G>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66221509 | |||||||
| chrX:66221685 | C | T | 1 | a0001c0003t0001g0002 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.2563+13439C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66221685 | |||||||
| chrX:66221780 | A | G | 3 | a0001c0003t0001g0081 a0001c0003t0002g0082 a0001c0010t0001g0080 |
3 | HG02615.hp2 HG03130.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.2563+13534A>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66221780 | |||||||
| chrX:66221889 | A | G | 86 | a0001c0002t0001g0006 a0001c0002t0001g0022 a0001c0002t0001g0023 others(83): Show |
87 | HG00099.hp2 HG00733.hp1 HG00735.hp1 others(84): Show |
intron_variant | MODIFIER | c.2563+13643A>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66221889 | |||||||
| chrX:66221969 | G | T | 1 | a0008c0014t0001g0079 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.2563+13723G>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66221969 | |||||||
| chrX:66222262 | T | C | 3 | a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0149 |
3 | HG01943.hp1 HG01978.hp1 HG02004.hp1 |
intron_variant | MODIFIER | c.2563+14016T>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66222262 | |||||||
| chrX:66222349 | T | C | 86 | a0001c0002t0001g0006 a0001c0002t0001g0022 a0001c0002t0001g0023 others(83): Show |
87 | HG00099.hp2 HG00733.hp1 HG00735.hp1 others(84): Show |
intron_variant | MODIFIER | c.2563+14103T>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66222349 | |||||||
| chrX:66222436 | G | T | 14 | a0001c0003t0001g0001 a0001c0003t0001g0002 a0001c0003t0001g0017 others(11): Show |
15 | HG00735.hp1 HG01167.hp1 HG01169.hp2 others(12): Show |
intron_variant | MODIFIER | c.2563+14190G>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66222436 | |||||||
| chrX:66222478 | T | A | 47 | a0001c0002t0001g0006 a0001c0002t0001g0022 a0001c0002t0001g0023 others(44): Show |
47 | HG00099.hp2 HG00733.hp1 HG00741.hp1 others(44): Show |
intron_variant | MODIFIER | c.2563+14232T>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66222478 | |||||||
| chrX:66222494 | T | C | 5 | a0001c0003t0002g0209 a0001c0003t0002g0210 a0001c0003t0002g0211 others(2): Show |
5 | HG00738.hp1 HG01081.hp1 HG02647.hp1 others(2): Show |
intron_variant | MODIFIER | c.2563+14248T>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66222494 | |||||||
| chrX:66222556 | A | G | 29 | a0001c0003t0001g0001 a0001c0003t0001g0002 a0001c0003t0001g0017 others(26): Show |
30 | HG00735.hp1 HG00738.hp1 HG01081.hp1 others(27): Show |
intron_variant | MODIFIER | c.2563+14310A>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66222556 | |||||||
| chrX:66222657 | G | A | 1 | a0001c0013t0002g0208 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.2563+14411G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66222657 | |||||||
| chrX:66222659 | G | A | 11 | a0001c0003t0001g0002 a0001c0003t0001g0018 a0001c0003t0001g0019 others(8): Show |
11 | HG00735.hp1 HG01891.hp1 HG02258.hp1 others(8): Show |
intron_variant | MODIFIER | c.2563+14413G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66222659 | |||||||
| chrX:66222991 | C | T | 1 | a0001c0001t0001g0182 | 1 | HG04204.hp1 | intron_variant | MODIFIER | c.2563+14745C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66222991 | |||||||
| chrX:66223266 | G | A | 1 | a0001c0001t0001g0114 | 1 | HG02273.hp2 | intron_variant | MODIFIER | c.2563+15020G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66223266 | |||||||
| chrX:66223296 | T | C | 1 | a0001c0002t0002g0054 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.2563+15050T>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66223296 | |||||||
| chrX:66223317 | T | G | 3 | a0001c0003t0002g0209 a0001c0003t0002g0210 a0001c0003t0002g0211 |
3 | HG00738.hp1 HG01081.hp1 HG02647.hp1 |
intron_variant | MODIFIER | c.2563+15071T>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66223317 | |||||||
| chrX:66223367 | G | T | 2 | a0001c0001t0001g0105 a0001c0001t0001g0130 |
2 | NA18966.hp1 NA19063.hp1 |
intron_variant | MODIFIER | c.2563+15121G>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66223367 | |||||||
| chrX:66223453 | A | G | 86 | a0001c0002t0001g0006 a0001c0002t0001g0022 a0001c0002t0001g0023 others(83): Show |
87 | HG00099.hp2 HG00733.hp1 HG00735.hp1 others(84): Show |
intron_variant | MODIFIER | c.2563+15207A>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66223453 | |||||||
| chrX:66223487 | T | C | 6 | a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0179 others(3): Show |
6 | HG02015.hp1 HG02074.hp1 HG02165.hp2 others(3): Show |
intron_variant | MODIFIER | c.2563+15241T>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66223487 | |||||||
| chrX:66223493 | C | T | 3 | a0001c0002t0001g0056 a0001c0002t0001g0059 a0001c0002t0002g0057 |
3 | HG00741.hp1 HG01192.hp1 HG01516.hp1 |
intron_variant | MODIFIER | c.2563+15247C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66223493 | |||||||
| chrX:66223584 | G | T | 1 | a0001c0001t0001g0141 | 1 | HG02056.hp1 | intron_variant | MODIFIER | c.2563+15338G>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66223584 | |||||||
| chrX:66223787 | T | G | 1 | a0001c0003t0001g0021 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.2563+15541T>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66223787 | |||||||
| chrX:66223904 | A | G | 11 | a0001c0003t0001g0002 a0001c0003t0001g0018 a0001c0003t0001g0019 others(8): Show |
11 | HG00735.hp1 HG01891.hp1 HG02258.hp1 others(8): Show |
intron_variant | MODIFIER | c.2563+15658A>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66223904 | |||||||
| chrX:66223937 | C | T | 1 | a0001c0002t0002g0039 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.2563+15691C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66223937 | |||||||
| chrX:66224086 | CT | C | 75 | a0001c0001t0001g0142 a0001c0002t0001g0022 a0001c0002t0001g0023 others(72): Show |
76 | HG00099.hp2 HG00733.hp1 HG00735.hp1 others(73): Show |
intron_variant | MODIFIER | c.2563+15854delT | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chrX | 66224086 | ||||||
| chrX:66224086 | CTT | C | 5 | a0001c0002t0002g0040 a0001c0002t0002g0041 a0001c0002t0002g0042 others(2): Show |
5 | HG01884.hp1 HG02257.hp2 HG02451.hp2 others(2): Show |
intron_variant | MODIFIER | c.2563+15853_2563+15 others(8): Show |
HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chrX | 66224086 | ||||||
| chrX:66224409 | G | T | 2 | a0001c0002t0001g0043 a0001c0002t0001g0215 |
2 | HG02280.hp2 HG02886.hp2 |
intron_variant | MODIFIER | c.2563+16163G>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66224409 | |||||||
| chrX:66224425 | T | A | 1 | a0001c0001t0001g0149 | 1 | HG01943.hp1 | intron_variant | MODIFIER | c.2563+16179T>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66224425 | |||||||
| chrX:66224429 | T | A | 86 | a0001c0002t0001g0006 a0001c0002t0001g0022 a0001c0002t0001g0023 others(83): Show |
87 | HG00099.hp2 HG00733.hp1 HG00735.hp1 others(84): Show |
intron_variant | MODIFIER | c.2563+16183T>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66224429 | |||||||
| chrX:66224446 | C | T | 1 | a0001c0001t0001g0125 | 1 | HG00621.hp1 | intron_variant | MODIFIER | c.2563+16200C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66224446 | |||||||
| chrX:66224478 | G | A | 1 | a0008c0014t0001g0079 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.2563+16232G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66224478 | |||||||
| chrX:66224486 | A | G | 4 | a0001c0003t0001g0028 a0001c0003t0001g0029 a0001c0003t0001g0030 others(1): Show |
4 | HG02622.hp2 HG02922.hp1 HG03098.hp1 others(1): Show |
intron_variant | MODIFIER | c.2563+16240A>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66224486 | |||||||
| chrX:66224488 | C | T | 1 | a0001c0002t0002g0009 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.2563+16242C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66224488 | |||||||
| chrX:66224598 | C | T | 1 | a0001c0003t0002g0209 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.2563+16352C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66224598 | |||||||
| chrX:66224619 | G | A | 3 | a0001c0003t0002g0209 a0001c0003t0002g0210 a0001c0003t0002g0211 |
3 | HG00738.hp1 HG01081.hp1 HG02647.hp1 |
intron_variant | MODIFIER | c.2563+16373G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66224619 | |||||||
| chrX:66224759 | G | T | 1 | a0001c0001t0001g0181 | 1 | HG00140.hp1 | intron_variant | MODIFIER | c.2563+16513G>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66224759 | |||||||
| chrX:66224979 | C | T | 5 | a0001c0003t0002g0012 a0001c0003t0002g0016 a0002c0004t0002g0013 others(2): Show |
5 | HG01891.hp1 HG02717.hp1 HG02809.hp2 others(2): Show |
intron_variant | MODIFIER | c.2563+16733C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66224979 | |||||||
| chrX:66225094 | T | C | 1 | a0001c0002t0001g0056 | 1 | HG01192.hp1 | intron_variant | MODIFIER | c.2563+16848T>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66225094 | |||||||
| chrX:66225391 | G | A | 14 | a0001c0003t0001g0001 a0001c0003t0001g0002 a0001c0003t0001g0017 others(11): Show |
15 | HG00735.hp1 HG01167.hp1 HG01169.hp2 others(12): Show |
intron_variant | MODIFIER | c.2563+17145G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66225391 | |||||||
| chrX:66225489 | T | C | 57 | a0001c0002t0001g0006 a0001c0002t0001g0022 a0001c0002t0001g0023 others(54): Show |
57 | HG00099.hp2 HG00733.hp1 HG00741.hp1 others(54): Show |
intron_variant | MODIFIER | c.2563+17243T>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66225489 | |||||||
| chrX:66225615 | G | A | 47 | a0001c0002t0001g0006 a0001c0002t0001g0022 a0001c0002t0001g0023 others(44): Show |
47 | HG00099.hp2 HG00733.hp1 HG00741.hp1 others(44): Show |
intron_variant | MODIFIER | c.2563+17369G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66225615 | |||||||
| chrX:66225647 | G | T | 1 | a0001c0001t0001g0111 | 1 | NA20752.hp1 | intron_variant | MODIFIER | c.2563+17401G>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66225647 | |||||||
| chrX:66225724 | A | C | 3 | a0001c0003t0001g0081 a0001c0003t0002g0082 a0001c0010t0001g0080 |
3 | HG02615.hp2 HG03130.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.2563+17478A>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66225724 | |||||||
| chrX:66225742 | C | T | 1 | a0001c0001t0001g0163 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.2563+17496C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66225742 | |||||||
| chrX:66225799 | A | G | 86 | a0001c0002t0001g0006 a0001c0002t0001g0022 a0001c0002t0001g0023 others(83): Show |
87 | HG00099.hp2 HG00733.hp1 HG00735.hp1 others(84): Show |
intron_variant | MODIFIER | c.2563+17553A>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66225799 | |||||||
| chrX:66226131 | T | C | 3 | a0001c0003t0001g0028 a0001c0003t0001g0029 a0001c0003t0001g0030 |
3 | HG02622.hp2 HG02922.hp1 HG03098.hp1 |
intron_variant | MODIFIER | c.2563+17885T>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66226131 | |||||||
| chrX:66226179 | C | T | 1 | a0001c0001t0001g0107 | 1 | NA19056.hp1 | intron_variant | MODIFIER | c.2563+17933C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66226179 | |||||||
| chrX:66226194 | C | T | 1 | a0001c0001t0001g0196 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.2563+17948C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66226194 | |||||||
| chrX:66226372 | G | A | 1 | a0001c0001t0001g0108 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.2563+18126G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66226372 | |||||||
| chrX:66226384 | A | C | 1 | a0008c0014t0001g0079 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.2563+18138A>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66226384 | |||||||
| chrX:66226457 | A | G | 57 | a0001c0002t0001g0006 a0001c0002t0001g0022 a0001c0002t0001g0023 others(54): Show |
57 | HG00099.hp2 HG00733.hp1 HG00741.hp1 others(54): Show |
intron_variant | MODIFIER | c.2563+18211A>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66226457 | |||||||
| chrX:66226659 | A | G | 1 | a0001c0001t0001g0096 | 1 | NA19004.hp1 | intron_variant | MODIFIER | c.2563+18413A>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66226659 | |||||||
| chrX:66226825 | C | T | 3 | a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0002g0092 |
3 | HG00673.hp1 HG02165.hp1 NA19005.hp1 |
intron_variant | MODIFIER | c.2563+18579C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66226825 | |||||||
| chrX:66226854 | T | C | 1 | a0001c0002t0001g0056 | 1 | HG01192.hp1 | intron_variant | MODIFIER | c.2563+18608T>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66226854 | |||||||
| chrX:66227095 | G | C | 1 | a0001c0001t0001g0118 | 1 | NA18612.hp1 | intron_variant | MODIFIER | c.2563+18849G>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66227095 | |||||||
| chrX:66227189 | T | A | 2 | a0004c0007t0001g0166 a0004c0007t0001g0167 |
2 | NA18984.hp1 NA19009.hp1 |
intron_variant | MODIFIER | c.2563+18943T>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66227189 | |||||||
| chrX:66227465 | G | A | 5 | a0001c0003t0002g0012 a0001c0003t0002g0016 a0002c0004t0002g0013 others(2): Show |
5 | HG01891.hp1 HG02717.hp1 HG02809.hp2 others(2): Show |
intron_variant | MODIFIER | c.2563+19219G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66227465 | |||||||
| chrX:66227497 | G | A | 2 | a0001c0001t0001g0120 a0001c0001t0001g0121 |
2 | HG00609.hp1 NA19058.hp1 |
intron_variant | MODIFIER | c.2563+19251G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66227497 | |||||||
| chrX:66227676 | T | C | 1 | a0001c0001t0001g0191 | 1 | HG03710.hp1 | intron_variant | MODIFIER | c.2563+19430T>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66227676 | |||||||
| chrX:66227968 | G | T | 1 | a0001c0001t0001g0132 | 1 | NA18948.hp1 | intron_variant | MODIFIER | c.2563+19722G>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66227968 | |||||||
| chrX:66228185 | G | A | 1 | a0001c0003t0001g0031 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.2563+19939G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66228185 | |||||||
| chrX:66228258 | C | G | 57 | a0001c0002t0001g0006 a0001c0002t0001g0022 a0001c0002t0001g0023 others(54): Show |
57 | HG00099.hp2 HG00733.hp1 HG00741.hp1 others(54): Show |
intron_variant | MODIFIER | c.2563+20012C>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66228258 | |||||||
| chrX:66228358 | G | A | 4 | a0001c0003t0001g0028 a0001c0003t0001g0029 a0001c0003t0001g0030 others(1): Show |
4 | HG02622.hp2 HG02922.hp1 HG03098.hp1 others(1): Show |
intron_variant | MODIFIER | c.2563+20112G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66228358 | |||||||
| chrX:66228668 | TCAAA | T | 4 | a0001c0003t0001g0028 a0001c0003t0001g0029 a0001c0003t0001g0030 others(1): Show |
4 | HG02622.hp2 HG02922.hp1 HG03098.hp1 others(1): Show |
intron_variant | MODIFIER | c.2563+20427_2563+20 others(10): Show |
HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chrX | 66228668 | ||||||
| chrX:66228867 | TA | T | 5 | a0001c0003t0001g0018 a0001c0003t0001g0019 a0001c0003t0001g0020 others(2): Show |
5 | HG00735.hp1 HG02258.hp1 HG02451.hp1 others(2): Show |
intron_variant | MODIFIER | c.2563+20629delA | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chrX | 66228867 | ||||||
| chrX:66228883 | A | G | 86 | a0001c0002t0001g0006 a0001c0002t0001g0022 a0001c0002t0001g0023 others(83): Show |
87 | HG00099.hp2 HG00733.hp1 HG00735.hp1 others(84): Show |
intron_variant | MODIFIER | c.2563+20637A>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66228883 | |||||||
| chrX:66228890 | C | T | 1 | a0001c0001t0001g0181 | 1 | HG00140.hp1 | intron_variant | MODIFIER | c.2563+20644C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66228890 | |||||||
| chrX:66228902 | G | T | 1 | a0001c0003t0001g0027 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.2563+20656G>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66228902 | |||||||
| chrX:66229202 | A | G | 3 | a0001c0002t0001g0056 a0001c0002t0001g0059 a0001c0002t0002g0057 |
3 | HG00741.hp1 HG01192.hp1 HG01516.hp1 |
intron_variant | MODIFIER | c.2563+20956A>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66229202 | |||||||
| chrX:66229210 | A | G | 1 | a0001c0001t0001g0191 | 1 | HG03710.hp1 | intron_variant | MODIFIER | c.2563+20964A>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66229210 | |||||||
| chrX:66229364 | T | C | 86 | a0001c0002t0001g0006 a0001c0002t0001g0022 a0001c0002t0001g0023 others(83): Show |
87 | HG00099.hp2 HG00733.hp1 HG00735.hp1 others(84): Show |
intron_variant | MODIFIER | c.2563+21118T>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66229364 | |||||||
| chrX:66229423 | T | A | 1 | a0001c0002t0002g0069 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.2563+21177T>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66229423 | |||||||
| chrX:66229457 | G | A | 1 | a0001c0002t0001g0058 | 1 | HG01081.hp2 | intron_variant | MODIFIER | c.2563+21211G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66229457 | |||||||
| chrX:66229625 | C | T | 3 | a0001c0003t0001g0018 a0001c0003t0001g0019 a0001c0003t0001g0020 |
3 | HG02258.hp1 HG02451.hp1 HG02976.hp2 |
intron_variant | MODIFIER | c.2563+21379C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66229625 | |||||||
| chrX:66229667 | A | G | 1 | a0001c0001t0001g0110 | 1 | NA18955.hp1 | intron_variant | MODIFIER | c.2563+21421A>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66229667 | |||||||
| chrX:66229693 | A | T | 4 | a0001c0002t0002g0037 a0001c0002t0002g0038 a0001c0002t0003g0032 others(1): Show |
4 | HG02280.hp1 HG02922.hp2 HG03209.hp1 others(1): Show |
intron_variant | MODIFIER | c.2563+21447A>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66229693 | |||||||
| chrX:66229773 | T | G | 1 | a0001c0002t0002g0050 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.2563+21527T>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66229773 | |||||||
| chrX:66229897 | G | C | 1 | a0008c0014t0001g0079 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.2563+21651G>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66229897 | |||||||
| chrX:66229932 | C | G | 1 | a0001c0001t0001g0119 | 1 | HG00642.hp1 | intron_variant | MODIFIER | c.2563+21686C>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66229932 | |||||||
| chrX:66229953 | G | A | 5 | a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 others(2): Show |
5 | HG00639.hp1 HG01257.hp2 HG01258.hp1 others(2): Show |
intron_variant | MODIFIER | c.2563+21707G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66229953 | |||||||
| chrX:66230021 | T | A | 1 | a0001c0001t0001g0205 | 1 | HG02602.hp1 | intron_variant | MODIFIER | c.2563+21775T>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66230021 | |||||||
| chrX:66230180 | G | T | 2 | a0001c0002t0001g0006 a0001c0002t0001g0058 |
2 | HG01081.hp2 HG01358.hp1 |
intron_variant | MODIFIER | c.2563+21934G>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66230180 | |||||||
| chrX:66230272 | G | C | 2 | a0001c0002t0001g0043 a0001c0002t0001g0215 |
2 | HG02280.hp2 HG02886.hp2 |
intron_variant | MODIFIER | c.2563+22026G>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66230272 | |||||||
| chrX:66230275 | A | C | 3 | a0001c0003t0001g0018 a0001c0003t0001g0019 a0001c0003t0001g0020 |
3 | HG02258.hp1 HG02451.hp1 HG02976.hp2 |
intron_variant | MODIFIER | c.2563+22029A>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66230275 | |||||||
| chrX:66230310 | C | T | 1 | a0001c0001t0001g0091 | 1 | HG02165.hp1 | intron_variant | MODIFIER | c.2563+22064C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66230310 | |||||||
| chrX:66230331 | T | G | 29 | a0001c0003t0001g0001 a0001c0003t0001g0002 a0001c0003t0001g0017 others(26): Show |
30 | HG00735.hp1 HG00738.hp1 HG01081.hp1 others(27): Show |
intron_variant | MODIFIER | c.2563+22085T>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66230331 | |||||||
| chrX:66230370 | G | C | 86 | a0001c0002t0001g0006 a0001c0002t0001g0022 a0001c0002t0001g0023 others(83): Show |
87 | HG00099.hp2 HG00733.hp1 HG00735.hp1 others(84): Show |
intron_variant | MODIFIER | c.2563+22124G>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66230370 | |||||||
| chrX:66230401 | G | A | 7 | a0001c0003t0001g0027 a0001c0003t0001g0028 a0001c0003t0001g0029 others(4): Show |
7 | HG02055.hp1 HG02109.hp2 HG02622.hp2 others(4): Show |
intron_variant | MODIFIER | c.2563+22155G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66230401 | |||||||
| chrX:66230454 | G | T | 1 | a0001c0003t0001g0081 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.2563+22208G>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66230454 | |||||||
| chrX:66230485 | G | A | 1 | a0001c0001t0001g0141 | 1 | HG02056.hp1 | intron_variant | MODIFIER | c.2563+22239G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66230485 | |||||||
| chrX:66230551 | T | G | 3 | a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0149 |
3 | HG01943.hp1 HG01978.hp1 HG02004.hp1 |
intron_variant | MODIFIER | c.2563+22305T>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66230551 | |||||||
| chrX:66230560 | T | A | 57 | a0001c0002t0001g0006 a0001c0002t0001g0022 a0001c0002t0001g0023 others(54): Show |
57 | HG00099.hp2 HG00733.hp1 HG00741.hp1 others(54): Show |
intron_variant | MODIFIER | c.2563+22314T>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66230560 | |||||||
| chrX:66230564 | T | A | 14 | a0001c0003t0001g0001 a0001c0003t0001g0002 a0001c0003t0001g0017 others(11): Show |
15 | HG00735.hp1 HG01167.hp1 HG01169.hp2 others(12): Show |
intron_variant | MODIFIER | c.2563+22318T>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66230564 | |||||||
| chrX:66230569 | G | A | 7 | a0001c0003t0001g0027 a0001c0003t0001g0028 a0001c0003t0001g0029 others(4): Show |
7 | HG02055.hp1 HG02109.hp2 HG02622.hp2 others(4): Show |
intron_variant | MODIFIER | c.2563+22323G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66230569 | |||||||
| chrX:66230583 | A | C | 1 | a0008c0014t0001g0079 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.2563+22337A>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66230583 | |||||||
| chrX:66230602 | C | T | 1 | a0001c0001t0001g0136 | 1 | HG01978.hp1 | intron_variant | MODIFIER | c.2563+22356C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66230602 | |||||||
| chrX:66230701 | G | A | 30 | a0001c0002t0002g0033 a0001c0003t0001g0001 a0001c0003t0001g0002 others(27): Show |
31 | HG00735.hp1 HG00738.hp1 HG01081.hp1 others(28): Show |
intron_variant | MODIFIER | c.2563+22455G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66230701 | |||||||
| chrX:66230773 | G | T | 1 | a0001c0001t0001g0099 | 1 | HG02083.hp1 | intron_variant | MODIFIER | c.2563+22527G>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66230773 | |||||||
| chrX:66230924 | T | A | 1 | a0001c0013t0002g0208 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.2563+22678T>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66230924 | |||||||
| chrX:66230930 | A | C | 1 | a0001c0003t0002g0016 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.2563+22684A>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66230930 | |||||||
| chrX:66230988 | T | G | 7 | a0001c0002t0002g0062 a0001c0002t0002g0063 a0001c0002t0002g0064 others(4): Show |
7 | HG01169.hp1 HG01496.hp2 HG01928.hp1 others(4): Show |
intron_variant | MODIFIER | c.2563+22742T>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66230988 | |||||||
| chrX:66230991 | A | C | 14 | a0001c0003t0001g0001 a0001c0003t0001g0002 a0001c0003t0001g0017 others(11): Show |
15 | HG00735.hp1 HG01167.hp1 HG01169.hp2 others(12): Show |
intron_variant | MODIFIER | c.2563+22745A>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66230991 | |||||||
| chrX:66231000 | G | T | 1 | a0008c0014t0001g0079 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.2563+22754G>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66231000 | |||||||
| chrX:66231052 | G | A | 4 | a0001c0003t0002g0209 a0001c0003t0002g0210 a0001c0003t0002g0211 others(1): Show |
4 | HG00738.hp1 HG01081.hp1 HG02647.hp1 others(1): Show |
intron_variant | MODIFIER | c.2563+22806G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66231052 | |||||||
| chrX:66231058 | C | G | 2 | a0001c0001t0001g0141 a0001c0002t0002g0039 |
2 | HG02056.hp1 HG02886.hp1 |
intron_variant | MODIFIER | c.2563+22812C>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66231058 | |||||||
| chrX:66231064 | T | C | 2 | a0001c0001t0001g0186 a0001c0001t0001g0195 |
2 | NA19066.hp1 NA19068.hp1 |
intron_variant | MODIFIER | c.2563+22818T>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66231064 | |||||||
| chrX:66231085 | G | A | 1 | a0001c0001t0001g0194 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.2563+22839G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66231085 | |||||||
| chrX:66231112 | C | A | 1 | a0001c0001t0001g0111 | 1 | NA20752.hp1 | intron_variant | MODIFIER | c.2563+22866C>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66231112 | |||||||
| chrX:66231128 | T | G | 19 | a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0093 others(16): Show |
19 | HG00597.hp1 HG02040.hp1 HG02071.hp1 others(16): Show |
intron_variant | MODIFIER | c.2563+22882T>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66231128 | |||||||
| chrX:66231130 | A | G | 19 | a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0093 others(16): Show |
19 | HG00597.hp1 HG02040.hp1 HG02071.hp1 others(16): Show |
intron_variant | MODIFIER | c.2563+22884A>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66231130 | |||||||
| chrX:66231203 | G | A | 1 | a0001c0003t0001g0078 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.2563+22957G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66231203 | |||||||
| chrX:66231257 | C | T | 1 | a0001c0003t0001g0017 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.2563+23011C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66231257 | |||||||
| chrX:66231261 | C | G | 3 | a0001c0003t0001g0018 a0001c0003t0001g0019 a0001c0003t0001g0020 |
3 | HG02258.hp1 HG02451.hp1 HG02976.hp2 |
intron_variant | MODIFIER | c.2563+23015C>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66231261 | |||||||
| chrX:66231287 | G | A | 5 | a0001c0001t0001g0187 a0001c0003t0001g0028 a0001c0003t0001g0029 others(2): Show |
5 | HG02622.hp2 HG02922.hp1 HG03098.hp1 others(2): Show |
intron_variant | MODIFIER | c.2563+23041G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66231287 | |||||||
| chrX:66231350 | C | T | 5 | a0001c0002t0002g0072 a0001c0002t0002g0073 a0001c0002t0002g0074 others(2): Show |
5 | HG02965.hp1 HG03139.hp1 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.2563+23104C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66231350 | |||||||
| chrX:66231402 | C | G | 1 | a0001c0002t0002g0010 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.2563+23156C>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66231402 | |||||||
| chrX:66231430 | G | C | 1 | a0001c0001t0001g0182 | 1 | HG04204.hp1 | intron_variant | MODIFIER | c.2563+23184G>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66231430 | |||||||
| chrX:66231558 | T | C | 2 | a0004c0007t0001g0166 a0004c0007t0001g0167 |
2 | NA18984.hp1 NA19009.hp1 |
intron_variant | MODIFIER | c.2563+23312T>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66231558 | |||||||
| chrX:66231603 | T | A | 1 | a0005c0005t0001g0185 | 1 | NA19055.hp1 | intron_variant | MODIFIER | c.2563+23357T>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66231603 | |||||||
| chrX:66231603 | T | C | 2 | a0004c0007t0001g0166 a0004c0007t0001g0167 |
2 | NA18984.hp1 NA19009.hp1 |
intron_variant | MODIFIER | c.2563+23357T>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66231603 | |||||||
| chrX:66231639 | C | T | 1 | a0001c0013t0002g0208 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.2563+23393C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66231639 | |||||||
| chrX:66231731 | A | C | 11 | a0001c0001t0001g0111 a0001c0001t0001g0135 a0001c0001t0001g0136 others(8): Show |
11 | HG00280.hp1 HG00733.hp2 HG01070.hp2 others(8): Show |
intron_variant | MODIFIER | c.2564-23304A>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66231731 | |||||||
| chrX:66231826 | T | C | 1 | a0001c0002t0002g0047 | 1 | HG01255.hp1 | intron_variant | MODIFIER | c.2564-23209T>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66231826 | |||||||
| chrX:66231871 | T | A | 2 | a0001c0001t0001g0116 a0001c0001t0001g0117 |
2 | HG02615.hp1 HG03041.hp2 |
intron_variant | MODIFIER | c.2564-23164T>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66231871 | |||||||
| chrX:66231912 | A | G | 86 | a0001c0002t0001g0006 a0001c0002t0001g0022 a0001c0002t0001g0023 others(83): Show |
87 | HG00099.hp2 HG00733.hp1 HG00735.hp1 others(84): Show |
intron_variant | MODIFIER | c.2564-23123A>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66231912 | |||||||
| chrX:66231921 | A | T | 1 | a0001c0003t0001g0002 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.2564-23114A>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66231921 | |||||||
| chrX:66232078 | A | G | 1 | a0001c0003t0001g0021 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.2564-22957A>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66232078 | |||||||
| chrX:66232092 | A | G | 4 | a0001c0003t0002g0209 a0001c0003t0002g0210 a0001c0003t0002g0211 others(1): Show |
4 | HG00738.hp1 HG01081.hp1 HG02647.hp1 others(1): Show |
intron_variant | MODIFIER | c.2564-22943A>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66232092 | |||||||
| chrX:66232140 | G | T | 4 | a0001c0001t0001g0192 a0001c0001t0001g0200 a0001c0001t0001g0206 others(1): Show |
4 | HG02735.hp1 HG03490.hp1 HG03688.hp1 others(1): Show |
intron_variant | MODIFIER | c.2564-22895G>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66232140 | |||||||
| chrX:66232141 | G | T | 1 | a0008c0014t0001g0079 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.2564-22894G>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66232141 | |||||||
| chrX:66232237 | C | A | 2 | a0001c0003t0001g0028 a0001c0003t0001g0029 |
2 | HG02622.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.2564-22798C>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66232237 | |||||||
| chrX:66232261 | C | T | 14 | a0001c0003t0001g0001 a0001c0003t0001g0002 a0001c0003t0001g0017 others(11): Show |
15 | HG00735.hp1 HG01167.hp1 HG01169.hp2 others(12): Show |
intron_variant | MODIFIER | c.2564-22774C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66232261 | |||||||
| chrX:66232296 | A | G | 17 | a0001c0002t0001g0046 a0001c0002t0002g0044 a0001c0002t0002g0045 others(14): Show |
17 | HG01255.hp1 HG02109.hp1 HG02145.hp1 others(14): Show |
intron_variant | MODIFIER | c.2564-22739A>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66232296 | |||||||
| chrX:66232303 | A | T | 1 | a0001c0002t0002g0052 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.2564-22732A>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66232303 | |||||||
| chrX:66232370 | C | A | 1 | a0001c0001t0001g0094 | 1 | NA19089.hp1 | intron_variant | MODIFIER | c.2564-22665C>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66232370 | |||||||
| chrX:66232444 | A | C | 2 | a0001c0003t0001g0081 a0001c0003t0002g0082 |
2 | HG03130.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.2564-22591A>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66232444 | |||||||
| chrX:66232621 | C | T | 3 | a0001c0003t0002g0209 a0001c0003t0002g0210 a0001c0003t0002g0211 |
3 | HG00738.hp1 HG01081.hp1 HG02647.hp1 |
intron_variant | MODIFIER | c.2564-22414C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66232621 | |||||||
| chrX:66232715 | A | G | 1 | a0001c0003t0002g0026 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.2564-22320A>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66232715 | |||||||
| chrX:66232820 | A | G | 1 | a0001c0002t0002g0010 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.2564-22215A>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66232820 | |||||||
| chrX:66232953 | C | T | 85 | a0001c0002t0001g0006 a0001c0002t0001g0022 a0001c0002t0001g0023 others(82): Show |
86 | HG00099.hp2 HG00733.hp1 HG00735.hp1 others(83): Show |
intron_variant | MODIFIER | c.2564-22082C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66232953 | |||||||
| chrX:66233053 | CA | C | 4 | a0001c0003t0002g0209 a0001c0003t0002g0210 a0001c0003t0002g0211 others(1): Show |
4 | HG00738.hp1 HG01081.hp1 HG02647.hp1 others(1): Show |
intron_variant | MODIFIER | c.2564-21976delA | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chrX | 66233053 | ||||||
| chrX:66233059 | A | T | 4 | a0001c0003t0002g0209 a0001c0003t0002g0210 a0001c0003t0002g0211 others(1): Show |
4 | HG00738.hp1 HG01081.hp1 HG02647.hp1 others(1): Show |
intron_variant | MODIFIER | c.2564-21976A>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66233059 | |||||||
| chrX:66233504 | G | A | 4 | a0001c0002t0002g0072 a0001c0002t0002g0073 a0001c0002t0002g0074 others(1): Show |
4 | HG02965.hp1 HG03139.hp1 HG03195.hp1 others(1): Show |
intron_variant | MODIFIER | c.2564-21531G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66233504 | |||||||
| chrX:66233611 | T | TA | 4 | a0001c0003t0001g0028 a0001c0003t0001g0029 a0001c0003t0001g0030 others(1): Show |
4 | HG02622.hp2 HG02922.hp1 HG03098.hp1 others(1): Show |
intron_variant | MODIFIER | c.2564-21417dupA | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chrX | 66233611 | ||||||
| chrX:66233619 | T | A | 1 | a0001c0001t0001g0094 | 1 | NA19089.hp1 | intron_variant | MODIFIER | c.2564-21416T>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66233619 | |||||||
| chrX:66234080 | A | G | 86 | a0001c0002t0001g0006 a0001c0002t0001g0022 a0001c0002t0001g0023 others(83): Show |
87 | HG00099.hp2 HG00733.hp1 HG00735.hp1 others(84): Show |
intron_variant | MODIFIER | c.2564-20955A>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66234080 | |||||||
| chrX:66234203 | C | T | 2 | a0001c0001t0001g0192 a0001c0001t0001g0207 |
2 | HG02735.hp1 HG03688.hp1 |
intron_variant | MODIFIER | c.2564-20832C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66234203 | |||||||
| chrX:66234296 | A | T | 8 | a0001c0001t0001g0003 a0001c0001t0001g0200 a0001c0001t0001g0206 others(5): Show |
9 | HG01167.hp1 HG01169.hp2 HG01243.hp1 others(6): Show |
intron_variant | MODIFIER | c.2564-20739A>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66234296 | |||||||
| chrX:66234349 | T | G | 3 | a0001c0003t0002g0209 a0001c0003t0002g0210 a0001c0003t0002g0211 |
3 | HG00738.hp1 HG01081.hp1 HG02647.hp1 |
intron_variant | MODIFIER | c.2564-20686T>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66234349 | |||||||
| chrX:66234452 | G | T | 1 | a0001c0003t0002g0209 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.2564-20583G>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66234452 | |||||||
| chrX:66234579 | G | GT | 9 | a0001c0001t0001g0117 a0001c0001t0001g0172 a0001c0001t0001g0173 others(6): Show |
10 | HG00735.hp1 HG01167.hp1 HG01169.hp2 others(7): Show |
intron_variant | MODIFIER | c.2564-20445dupT | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chrX | 66234579 | ||||||
| chrX:66234579 | G | T | 1 | a0001c0001t0001g0149 | 1 | HG01943.hp1 | intron_variant | MODIFIER | c.2564-20456G>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66234579 | |||||||
| chrX:66234579 | GT | G | 10 | a0001c0002t0001g0022 a0001c0002t0001g0023 a0001c0002t0001g0024 others(7): Show |
10 | HG00738.hp1 HG01081.hp1 HG02630.hp1 others(7): Show |
intron_variant | MODIFIER | c.2564-20445delT | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chrX | 66234579 | ||||||
| chrX:66234643 | A | AT | 22 | a0001c0002t0001g0006 a0001c0002t0001g0056 a0001c0002t0001g0058 others(19): Show |
22 | HG00099.hp2 HG00733.hp1 HG00741.hp1 others(19): Show |
intron_variant | MODIFIER | c.2564-20380dupT | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chrX | 66234643 | ||||||
| chrX:66234787 | C | A | 57 | a0001c0002t0001g0006 a0001c0002t0001g0022 a0001c0002t0001g0023 others(54): Show |
57 | HG00099.hp2 HG00733.hp1 HG00741.hp1 others(54): Show |
intron_variant | MODIFIER | c.2564-20248C>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66234787 | |||||||
| chrX:66234838 | G | A | 1 | a0001c0001t0001g0099 | 1 | HG02083.hp1 | intron_variant | MODIFIER | c.2564-20197G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66234838 | |||||||
| chrX:66234929 | G | T | 4 | a0001c0003t0002g0209 a0001c0003t0002g0210 a0001c0003t0002g0211 others(1): Show |
4 | HG00738.hp1 HG01081.hp1 HG02647.hp1 others(1): Show |
intron_variant | MODIFIER | c.2564-20106G>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66234929 | |||||||
| chrX:66235109 | A | G | 1 | a0001c0001t0001g0180 | 1 | HG01257.hp1 | intron_variant | MODIFIER | c.2564-19926A>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66235109 | |||||||
| chrX:66235253 | C | T | 1 | a0001c0001t0001g0206 | 1 | HG03942.hp1 | intron_variant | MODIFIER | c.2564-19782C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66235253 | |||||||
| chrX:66235292 | A | G | 3 | a0001c0003t0001g0081 a0001c0003t0002g0082 a0001c0010t0001g0080 |
3 | HG02615.hp2 HG03130.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.2564-19743A>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66235292 | |||||||
| chrX:66235380 | G | A | 4 | a0001c0003t0002g0209 a0001c0003t0002g0210 a0001c0003t0002g0211 others(1): Show |
4 | HG00738.hp1 HG01081.hp1 HG02647.hp1 others(1): Show |
intron_variant | MODIFIER | c.2564-19655G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66235380 | |||||||
| chrX:66235382 | A | G | 1 | a0001c0001t0001g0175 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.2564-19653A>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66235382 | |||||||
| chrX:66235490 | CT | C | 57 | a0001c0002t0001g0006 a0001c0002t0001g0022 a0001c0002t0001g0023 others(54): Show |
57 | HG00099.hp2 HG00733.hp1 HG00741.hp1 others(54): Show |
intron_variant | MODIFIER | c.2564-19542delT | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chrX | 66235490 | ||||||
| chrX:66235524 | C | T | 3 | a0001c0003t0001g0001 a0001c0003t0001g0017 a0001c0003t0001g0021 |
4 | HG01167.hp1 HG01169.hp2 HG02622.hp1 others(1): Show |
intron_variant | MODIFIER | c.2564-19511C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66235524 | |||||||
| chrX:66235909 | C | T | 1 | a0001c0002t0002g0009 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.2564-19126C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66235909 | |||||||
| chrX:66236047 | C | T | 1 | a0001c0002t0001g0006 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.2564-18988C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66236047 | |||||||
| chrX:66236074 | C | G | 1 | a0001c0001t0001g0111 | 1 | NA20752.hp1 | intron_variant | MODIFIER | c.2564-18961C>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66236074 | |||||||
| chrX:66236180 | C | T | 1 | a0001c0001t0001g0176 | 1 | NA19088.hp1 | intron_variant | MODIFIER | c.2564-18855C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66236180 | |||||||
| chrX:66236181 | G | A | 2 | a0001c0002t0002g0040 a0001c0002t0002g0041 |
2 | HG02257.hp2 HG02451.hp2 |
intron_variant | MODIFIER | c.2564-18854G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66236181 | |||||||
| chrX:66236324 | G | A | 1 | a0001c0001t0001g0176 | 1 | NA19088.hp1 | intron_variant | MODIFIER | c.2564-18711G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66236324 | |||||||
| chrX:66236393 | T | A | 1 | a0001c0003t0001g0030 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.2564-18642T>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66236393 | |||||||
| chrX:66236461 | A | G | 1 | a0001c0003t0002g0082 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.2564-18574A>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66236461 | |||||||
| chrX:66236534 | A | T | 1 | a0001c0001t0001g0094 | 1 | NA19089.hp1 | intron_variant | MODIFIER | c.2564-18501A>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66236534 | |||||||
| chrX:66236681 | A | C | 2 | a0001c0003t0001g0018 a0001c0003t0001g0020 |
2 | HG02451.hp1 HG02976.hp2 |
intron_variant | MODIFIER | c.2564-18354A>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66236681 | |||||||
| chrX:66236687 | G | T | 57 | a0001c0002t0001g0006 a0001c0002t0001g0022 a0001c0002t0001g0023 others(54): Show |
57 | HG00099.hp2 HG00733.hp1 HG00741.hp1 others(54): Show |
intron_variant | MODIFIER | c.2564-18348G>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66236687 | |||||||
| chrX:66236702 | T | C | 2 | a0001c0001t0001g0126 a0001c0001t0001g0127 |
2 | NA18961.hp1 NA18990.hp1 |
intron_variant | MODIFIER | c.2564-18333T>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66236702 | |||||||
| chrX:66236850 | G | A | 4 | a0001c0002t0002g0040 a0001c0002t0002g0041 a0001c0002t0002g0042 others(1): Show |
4 | HG01884.hp1 HG02257.hp2 HG02451.hp2 others(1): Show |
intron_variant | MODIFIER | c.2564-18185G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66236850 | |||||||
| chrX:66236965 | A | G | 57 | a0001c0002t0001g0006 a0001c0002t0001g0022 a0001c0002t0001g0023 others(54): Show |
57 | HG00099.hp2 HG00733.hp1 HG00741.hp1 others(54): Show |
intron_variant | MODIFIER | c.2564-18070A>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66236965 | |||||||
| chrX:66236988 | T | A | 1 | a0005c0005t0001g0193 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.2564-18047T>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66236988 | |||||||
| chrX:66237048 | G | A | 1 | a0001c0003t0001g0002 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.2564-17987G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66237048 | |||||||
| chrX:66237141 | AT | A | 27 | a0001c0003t0001g0001 a0001c0003t0001g0002 a0001c0003t0001g0017 others(24): Show |
28 | HG00735.hp1 HG00738.hp1 HG01081.hp1 others(25): Show |
intron_variant | MODIFIER | c.2564-17883delT | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chrX | 66237141 | ||||||
| chrX:66237425 | T | A | 4 | a0001c0003t0002g0209 a0001c0003t0002g0210 a0001c0003t0002g0211 others(1): Show |
4 | HG00738.hp1 HG01081.hp1 HG02647.hp1 others(1): Show |
intron_variant | MODIFIER | c.2564-17610T>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66237425 | |||||||
| chrX:66237498 | T | C | 1 | a0001c0001t0001g0118 | 1 | NA18612.hp1 | intron_variant | MODIFIER | c.2564-17537T>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66237498 | |||||||
| chrX:66237500 | A | T | 1 | a0001c0001t0001g0118 | 1 | NA18612.hp1 | intron_variant | MODIFIER | c.2564-17535A>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66237500 | |||||||
| chrX:66237672 | C | A | 1 | a0001c0001t0001g0206 | 1 | HG03942.hp1 | intron_variant | MODIFIER | c.2564-17363C>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66237672 | |||||||
| chrX:66238083 | G | C | 4 | a0001c0002t0001g0046 a0001c0002t0002g0044 a0001c0002t0002g0050 others(1): Show |
4 | HG02572.hp1 HG02723.hp2 HG02895.hp1 others(1): Show |
intron_variant | MODIFIER | c.2564-16952G>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66238083 | |||||||
| chrX:66238130 | A | G | 3 | a0001c0003t0002g0209 a0001c0003t0002g0210 a0001c0003t0002g0211 |
3 | HG00738.hp1 HG01081.hp1 HG02647.hp1 |
intron_variant | MODIFIER | c.2564-16905A>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66238130 | |||||||
| chrX:66238418 | T | C | 57 | a0001c0002t0001g0006 a0001c0002t0001g0022 a0001c0002t0001g0023 others(54): Show |
57 | HG00099.hp2 HG00733.hp1 HG00741.hp1 others(54): Show |
intron_variant | MODIFIER | c.2564-16617T>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66238418 | |||||||
| chrX:66238575 | G | A | 1 | a0005c0005t0001g0185 | 1 | NA19055.hp1 | intron_variant | MODIFIER | c.2564-16460G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66238575 | |||||||
| chrX:66238670 | A | T | 3 | a0001c0003t0001g0081 a0001c0003t0002g0082 a0001c0010t0001g0080 |
3 | HG02615.hp2 HG03130.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.2564-16365A>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66238670 | |||||||
| chrX:66238798 | G | A | 1 | a0001c0002t0002g0061 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.2564-16237G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66238798 | |||||||
| chrX:66239280 | G | T | 3 | a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0149 |
3 | HG01943.hp1 HG01978.hp1 HG02004.hp1 |
intron_variant | MODIFIER | c.2564-15755G>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66239280 | |||||||
| chrX:66239381 | A | C | 86 | a0001c0002t0001g0006 a0001c0002t0001g0022 a0001c0002t0001g0023 others(83): Show |
87 | HG00099.hp2 HG00733.hp1 HG00735.hp1 others(84): Show |
intron_variant | MODIFIER | c.2564-15654A>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66239381 | |||||||
| chrX:66239472 | C | T | 2 | a0001c0002t0002g0035 a0001c0002t0002g0036 |
2 | HG01884.hp2 HG02257.hp1 |
intron_variant | MODIFIER | c.2564-15563C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66239472 | |||||||
| chrX:66239493 | G | T | 2 | a0001c0002t0002g0010 a0001c0002t0002g0011 |
2 | HG01243.hp1 HG02630.hp2 |
intron_variant | MODIFIER | c.2564-15542G>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66239493 | |||||||
| chrX:66240499 | G | A | 57 | a0001c0002t0001g0006 a0001c0002t0001g0022 a0001c0002t0001g0023 others(54): Show |
57 | HG00099.hp2 HG00733.hp1 HG00741.hp1 others(54): Show |
intron_variant | MODIFIER | c.2564-14536G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66240499 | |||||||
| chrX:66240521 | TA | T | 78 | a0001c0002t0001g0006 a0001c0002t0001g0043 a0001c0002t0001g0046 others(75): Show |
79 | HG00099.hp2 HG00733.hp1 HG00735.hp1 others(76): Show |
intron_variant | MODIFIER | c.2564-14501delA | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chrX | 66240521 | ||||||
| chrX:66240557 | C | T | 6 | a0001c0002t0001g0006 a0001c0002t0001g0056 a0001c0002t0001g0058 others(3): Show |
6 | HG00741.hp1 HG01081.hp2 HG01192.hp1 others(3): Show |
intron_variant | MODIFIER | c.2564-14478C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66240557 | |||||||
| chrX:66240558 | G | A | 28 | a0001c0003t0001g0001 a0001c0003t0001g0002 a0001c0003t0001g0017 others(25): Show |
29 | HG00735.hp1 HG00738.hp1 HG01081.hp1 others(26): Show |
intron_variant | MODIFIER | c.2564-14477G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66240558 | |||||||
| chrX:66240639 | A | T | 28 | a0001c0003t0001g0001 a0001c0003t0001g0002 a0001c0003t0001g0017 others(25): Show |
29 | HG00735.hp1 HG00738.hp1 HG01081.hp1 others(26): Show |
intron_variant | MODIFIER | c.2564-14396A>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66240639 | |||||||
| chrX:66240709 | G | A | 1 | a0001c0003t0001g0031 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.2564-14326G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66240709 | |||||||
| chrX:66240792 | G | A | 1 | a0001c0001t0001g0175 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.2564-14243G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66240792 | |||||||
| chrX:66241739 | T | C | 1 | a0001c0003t0001g0002 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.2564-13296T>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66241739 | |||||||
| chrX:66241830 | A | G | 1 | a0001c0003t0002g0211 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.2564-13205A>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66241830 | |||||||
| chrX:66241986 | G | T | 1 | a0001c0002t0001g0024 | 1 | HG02896.hp2 | intron_variant | MODIFIER | c.2564-13049G>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66241986 | |||||||
| chrX:66242015 | T | G | 1 | a0001c0003t0002g0007 | 1 | HG02896.hp1 | intron_variant | MODIFIER | c.2564-13020T>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66242015 | |||||||
| chrX:66242073 | G | GA | 17 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(14): Show |
17 | HG00621.hp1 HG02015.hp1 HG02074.hp1 others(14): Show |
intron_variant | MODIFIER | c.2564-12949dupA | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chrX | 66242073 | ||||||
| chrX:66242073 | GA | G | 7 | a0001c0002t0002g0009 a0001c0002t0002g0010 a0001c0002t0002g0011 others(4): Show |
7 | HG01243.hp1 HG01884.hp1 HG02257.hp2 others(4): Show |
intron_variant | MODIFIER | c.2564-12949delA | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chrX | 66242073 | ||||||
| chrX:66242230 | C | A | 3 | a0001c0003t0001g0081 a0001c0003t0002g0082 a0001c0010t0001g0080 |
3 | HG02615.hp2 HG03130.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.2564-12805C>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66242230 | |||||||
| chrX:66242298 | G | T | 57 | a0001c0002t0001g0006 a0001c0002t0001g0022 a0001c0002t0001g0023 others(54): Show |
57 | HG00099.hp2 HG00733.hp1 HG00741.hp1 others(54): Show |
intron_variant | MODIFIER | c.2564-12737G>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66242298 | |||||||
| chrX:66242777 | A | T | 1 | a0001c0001t0001g0106 | 1 | NA18965.hp1 | intron_variant | MODIFIER | c.2564-12258A>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66242777 | |||||||
| chrX:66242803 | C | T | 1 | a0001c0003t0001g0021 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.2564-12232C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66242803 | |||||||
| chrX:66242835 | C | T | 86 | a0001c0002t0001g0006 a0001c0002t0001g0022 a0001c0002t0001g0023 others(83): Show |
87 | HG00099.hp2 HG00733.hp1 HG00735.hp1 others(84): Show |
intron_variant | MODIFIER | c.2564-12200C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66242835 | |||||||
| chrX:66242928 | T | A | 1 | a0001c0001t0001g0125 | 1 | HG00621.hp1 | intron_variant | MODIFIER | c.2564-12107T>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66242928 | |||||||
| chrX:66243086 | T | C | 1 | a0001c0001t0001g0132 | 1 | NA18948.hp1 | intron_variant | MODIFIER | c.2564-11949T>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66243086 | |||||||
| chrX:66243375 | T | C | 2 | a0001c0001t0001g0172 a0001c0001t0001g0173 |
2 | HG02015.hp1 HG02074.hp1 |
intron_variant | MODIFIER | c.2564-11660T>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66243375 | |||||||
| chrX:66243581 | T | C | 1 | a0001c0003t0001g0001 | 2 | HG01167.hp1 HG01169.hp2 |
intron_variant | MODIFIER | c.2564-11454T>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66243581 | |||||||
| chrX:66243655 | A | G | 86 | a0001c0002t0001g0006 a0001c0002t0001g0022 a0001c0002t0001g0023 others(83): Show |
87 | HG00099.hp2 HG00733.hp1 HG00735.hp1 others(84): Show |
intron_variant | MODIFIER | c.2564-11380A>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66243655 | |||||||
| chrX:66243668 | C | T | 1 | a0001c0001t0001g0168 | 1 | NA18949.hp1 | intron_variant | MODIFIER | c.2564-11367C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66243668 | |||||||
| chrX:66244001 | C | T | 16 | a0001c0002t0001g0046 a0001c0002t0002g0044 a0001c0002t0002g0045 others(13): Show |
16 | HG01255.hp1 HG02109.hp1 HG02145.hp1 others(13): Show |
intron_variant | MODIFIER | c.2564-11034C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66244001 | |||||||
| chrX:66244035 | G | T | 1 | a0001c0001t0001g0152 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.2564-11000G>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66244035 | |||||||
| chrX:66244115 | T | C | 86 | a0001c0002t0001g0006 a0001c0002t0001g0022 a0001c0002t0001g0023 others(83): Show |
87 | HG00099.hp2 HG00733.hp1 HG00735.hp1 others(84): Show |
intron_variant | MODIFIER | c.2564-10920T>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66244115 | |||||||
| chrX:66244321 | G | C | 1 | a0001c0002t0002g0033 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.2564-10714G>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66244321 | |||||||
| chrX:66244387 | G | A | 4 | a0001c0001t0001g0156 a0001c0001t0001g0174 a0001c0001t0001g0203 others(1): Show |
4 | HG00733.hp2 HG01070.hp2 HG01074.hp1 others(1): Show |
intron_variant | MODIFIER | c.2564-10648G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66244387 | |||||||
| chrX:66244626 | A | G | 1 | a0001c0001t0001g0150 | 1 | NA19079.hp1 | intron_variant | MODIFIER | c.2564-10409A>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66244626 | |||||||
| chrX:66244652 | C | T | 1 | a0001c0002t0002g0011 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.2564-10383C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66244652 | |||||||
| chrX:66244793 | C | T | 1 | a0001c0003t0001g0078 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.2564-10242C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66244793 | |||||||
| chrX:66244894 | G | GT | 31 | a0001c0001t0001g0184 a0001c0003t0001g0001 a0001c0003t0001g0002 others(28): Show |
32 | HG00735.hp1 HG00738.hp1 HG01081.hp1 others(29): Show |
intron_variant | MODIFIER | c.2564-10128dupT | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chrX | 66244894 | ||||||
| chrX:66245279 | A | T | 17 | a0001c0002t0001g0046 a0001c0002t0002g0044 a0001c0002t0002g0045 others(14): Show |
17 | HG01255.hp1 HG02109.hp1 HG02145.hp1 others(14): Show |
intron_variant | MODIFIER | c.2564-9756A>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66245279 | |||||||
| chrX:66245324 | G | A | 21 | a0001c0003t0001g0001 a0001c0003t0001g0002 a0001c0003t0001g0017 others(18): Show |
22 | HG00735.hp1 HG01167.hp1 HG01169.hp2 others(19): Show |
intron_variant | MODIFIER | c.2564-9711G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66245324 | |||||||
| chrX:66245667 | A | C | 86 | a0001c0002t0001g0006 a0001c0002t0001g0022 a0001c0002t0001g0023 others(83): Show |
87 | HG00099.hp2 HG00733.hp1 HG00735.hp1 others(84): Show |
intron_variant | MODIFIER | c.2564-9368A>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66245667 | |||||||
| chrX:66245760 | C | T | 1 | a0001c0003t0001g0002 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.2564-9275C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66245760 | |||||||
| chrX:66245926 | G | A | 11 | a0001c0003t0001g0002 a0001c0003t0001g0018 a0001c0003t0001g0019 others(8): Show |
11 | HG00735.hp1 HG01891.hp1 HG02258.hp1 others(8): Show |
intron_variant | MODIFIER | c.2564-9109G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66245926 | |||||||
| chrX:66246031 | C | T | 1 | a0001c0002t0001g0006 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.2564-9004C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66246031 | |||||||
| chrX:66246122 | G | A | 1 | a0001c0002t0002g0069 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.2564-8913G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66246122 | |||||||
| chrX:66246262 | C | T | 2 | a0001c0003t0002g0210 a0001c0003t0002g0211 |
2 | HG01081.hp1 HG02647.hp1 |
intron_variant | MODIFIER | c.2564-8773C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66246262 | |||||||
| chrX:66246405 | T | G | 1 | a0003c0006t0001g0084 | 1 | NA18959.hp1 | intron_variant | MODIFIER | c.2564-8630T>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66246405 | |||||||
| chrX:66246422 | G | T | 2 | a0001c0001t0001g0142 a0001c0001t0001g0143 |
2 | NA19062.hp1 NA19076.hp1 |
intron_variant | MODIFIER | c.2564-8613G>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66246422 | |||||||
| chrX:66246425 | C | T | 1 | a0001c0002t0001g0023 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.2564-8610C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66246425 | |||||||
| chrX:66246579 | A | T | 1 | a0001c0002t0002g0011 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.2564-8456A>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66246579 | |||||||
| chrX:66246824 | G | A | 2 | a0001c0003t0001g0081 a0001c0003t0002g0082 |
2 | HG03130.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.2564-8211G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66246824 | |||||||
| chrX:66246964 | T | C | 1 | a0001c0002t0002g0009 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.2564-8071T>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66246964 | |||||||
| chrX:66247572 | T | C | 1 | a0001c0002t0002g0051 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.2564-7463T>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66247572 | |||||||
| chrX:66247598 | T | C | 4 | a0001c0003t0002g0209 a0001c0003t0002g0210 a0001c0003t0002g0211 others(1): Show |
4 | HG00738.hp1 HG01081.hp1 HG02647.hp1 others(1): Show |
intron_variant | MODIFIER | c.2564-7437T>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66247598 | |||||||
| chrX:66248065 | C | A | 1 | a0001c0001t0001g0141 | 1 | HG02056.hp1 | intron_variant | MODIFIER | c.2564-6970C>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66248065 | |||||||
| chrX:66248611 | A | G | 1 | a0001c0003t0002g0016 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.2564-6424A>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66248611 | |||||||
| chrX:66248674 | G | A | 86 | a0001c0002t0001g0006 a0001c0002t0001g0022 a0001c0002t0001g0023 others(83): Show |
87 | HG00099.hp2 HG00733.hp1 HG00735.hp1 others(84): Show |
intron_variant | MODIFIER | c.2564-6361G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66248674 | |||||||
| chrX:66248682 | T | C | 1 | a0001c0003t0001g0078 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.2564-6353T>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66248682 | |||||||
| chrX:66248686 | G | T | 1 | a0002c0004t0002g0013 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.2564-6349G>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66248686 | |||||||
| chrX:66248838 | A | T | 1 | a0001c0001t0001g0179 | 1 | HG02165.hp2 | intron_variant | MODIFIER | c.2564-6197A>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66248838 | |||||||
| chrX:66248978 | G | A | 1 | a0001c0002t0002g0009 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.2564-6057G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66248978 | |||||||
| chrX:66249000 | T | A | 3 | a0001c0003t0001g0027 a0001c0003t0001g0078 a0001c0003t0002g0026 |
3 | HG02055.hp1 HG02109.hp2 HG03041.hp1 |
intron_variant | MODIFIER | c.2564-6035T>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66249000 | |||||||
| chrX:66249029 | G | T | 1 | a0001c0002t0002g0039 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.2564-6006G>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66249029 | |||||||
| chrX:66249074 | G | A | 14 | a0001c0003t0001g0001 a0001c0003t0001g0002 a0001c0003t0001g0017 others(11): Show |
15 | HG00735.hp1 HG01167.hp1 HG01169.hp2 others(12): Show |
intron_variant | MODIFIER | c.2564-5961G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66249074 | |||||||
| chrX:66249173 | G | T | 3 | a0001c0003t0001g0081 a0001c0003t0002g0082 a0001c0010t0001g0080 |
3 | HG02615.hp2 HG03130.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.2564-5862G>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66249173 | |||||||
| chrX:66249300 | C | A | 1 | a0001c0003t0002g0211 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.2564-5735C>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66249300 | |||||||
| chrX:66249301 | C | A | 1 | a0001c0003t0002g0211 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.2564-5734C>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66249301 | |||||||
| chrX:66249449 | A | G | 86 | a0001c0002t0001g0006 a0001c0002t0001g0022 a0001c0002t0001g0023 others(83): Show |
87 | HG00099.hp2 HG00733.hp1 HG00735.hp1 others(84): Show |
intron_variant | MODIFIER | c.2564-5586A>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66249449 | |||||||
| chrX:66249460 | C | A | 1 | a0008c0014t0001g0079 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.2564-5575C>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66249460 | |||||||
| chrX:66249490 | T | C | 1 | a0001c0001t0001g0196 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.2564-5545T>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66249490 | |||||||
| chrX:66249557 | A | T | 57 | a0001c0002t0001g0006 a0001c0002t0001g0022 a0001c0002t0001g0023 others(54): Show |
57 | HG00099.hp2 HG00733.hp1 HG00741.hp1 others(54): Show |
intron_variant | MODIFIER | c.2564-5478A>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66249557 | |||||||
| chrX:66249804 | G | T | 57 | a0001c0002t0001g0006 a0001c0002t0001g0022 a0001c0002t0001g0023 others(54): Show |
57 | HG00099.hp2 HG00733.hp1 HG00741.hp1 others(54): Show |
intron_variant | MODIFIER | c.2564-5231G>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66249804 | |||||||
| chrX:66250042 | G | A | 1 | a0001c0013t0002g0208 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.2564-4993G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66250042 | |||||||
| chrX:66250053 | A | T | 57 | a0001c0002t0001g0006 a0001c0002t0001g0022 a0001c0002t0001g0023 others(54): Show |
57 | HG00099.hp2 HG00733.hp1 HG00741.hp1 others(54): Show |
intron_variant | MODIFIER | c.2564-4982A>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66250053 | |||||||
| chrX:66250075 | G | A | 1 | a0001c0001t0001g0202 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.2564-4960G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66250075 | |||||||
| chrX:66250154 | C | G | 2 | a0001c0001t0001g0105 a0001c0001t0001g0130 |
2 | NA18966.hp1 NA19063.hp1 |
intron_variant | MODIFIER | c.2564-4881C>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66250154 | |||||||
| chrX:66250190 | T | C | 17 | a0001c0002t0001g0046 a0001c0002t0002g0044 a0001c0002t0002g0045 others(14): Show |
17 | HG01255.hp1 HG02109.hp1 HG02145.hp1 others(14): Show |
intron_variant | MODIFIER | c.2564-4845T>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66250190 | |||||||
| chrX:66250305 | C | A | 1 | a0001c0002t0002g0009 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.2564-4730C>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66250305 | |||||||
| chrX:66250948 | A | G | 1 | a0001c0001t0001g0085 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.2564-4087A>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66250948 | |||||||
| chrX:66252247 | G | C | 7 | a0001c0003t0001g0027 a0001c0003t0001g0028 a0001c0003t0001g0029 others(4): Show |
7 | HG02055.hp1 HG02109.hp2 HG02622.hp2 others(4): Show |
intron_variant | MODIFIER | c.2564-2788G>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66252247 | |||||||
| chrX:66252264 | A | G | 1 | a0001c0001t0001g0179 | 1 | HG02165.hp2 | intron_variant | MODIFIER | c.2564-2771A>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66252264 | |||||||
| chrX:66252684 | C | T | 1 | a0001c0001t0001g0125 | 1 | HG00621.hp1 | intron_variant | MODIFIER | c.2564-2351C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66252684 | |||||||
| chrX:66252823 | TCAA | T | 2 | a0001c0001t0001g0154 a0001c0001t0001g0155 |
2 | HG01433.hp1 HG03654.hp1 |
intron_variant | MODIFIER | c.2564-2208_2564-220 others(7): Show |
HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chrX | 66252823 | ||||||
| chrX:66252855 | A | T | 7 | a0001c0003t0001g0027 a0001c0003t0001g0028 a0001c0003t0001g0029 others(4): Show |
7 | HG02055.hp1 HG02109.hp2 HG02622.hp2 others(4): Show |
intron_variant | MODIFIER | c.2564-2180A>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66252855 | |||||||
| chrX:66253244 | A | G | 1 | a0001c0002t0002g0064 | 1 | HG01978.hp2 | intron_variant | MODIFIER | c.2564-1791A>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66253244 | |||||||
| chrX:66253382 | A | T | 1 | a0002c0004t0002g0013 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.2564-1653A>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66253382 | |||||||
| chrX:66253422 | T | A | 25 | a0001c0003t0001g0001 a0001c0003t0001g0002 a0001c0003t0001g0017 others(22): Show |
26 | HG00735.hp1 HG00738.hp1 HG01081.hp1 others(23): Show |
intron_variant | MODIFIER | c.2564-1613T>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66253422 | |||||||
| chrX:66253423 | G | T | 25 | a0001c0003t0001g0001 a0001c0003t0001g0002 a0001c0003t0001g0017 others(22): Show |
26 | HG00735.hp1 HG00738.hp1 HG01081.hp1 others(23): Show |
intron_variant | MODIFIER | c.2564-1612G>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66253423 | |||||||
| chrX:66253485 | T | A | 26 | a0001c0003t0001g0001 a0001c0003t0001g0002 a0001c0003t0001g0017 others(23): Show |
27 | HG00735.hp1 HG00738.hp1 HG01081.hp1 others(24): Show |
intron_variant | MODIFIER | c.2564-1550T>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66253485 | |||||||
| chrX:66253581 | G | A | 129 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(126): Show |
129 | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(126): Show |
intron_variant | MODIFIER | c.2564-1454G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66253581 | |||||||
| chrX:66253721 | A | C | 3 | a0001c0003t0001g0027 a0001c0003t0001g0078 a0001c0003t0002g0026 |
3 | HG02055.hp1 HG02109.hp2 HG03041.hp1 |
intron_variant | MODIFIER | c.2564-1314A>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66253721 | |||||||
| chrX:66253940 | A | C | 4 | a0001c0003t0001g0028 a0001c0003t0001g0029 a0001c0003t0001g0030 others(1): Show |
4 | HG02622.hp2 HG02922.hp1 HG03098.hp1 others(1): Show |
intron_variant | MODIFIER | c.2564-1095A>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66253940 | |||||||
| chrX:66254015 | G | A | 1 | a0001c0001t0001g0152 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.2564-1020G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66254015 | |||||||
| chrX:66254203 | G | A | 1 | a0001c0002t0001g0046 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.2564-832G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66254203 | |||||||
| chrX:66254226 | C | G | 2 | a0001c0002t0002g0035 a0001c0002t0002g0036 |
2 | HG01884.hp2 HG02257.hp1 |
intron_variant | MODIFIER | c.2564-809C>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66254226 | |||||||
| chrX:66254236 | C | T | 11 | a0001c0003t0001g0001 a0001c0003t0001g0002 a0001c0003t0001g0017 others(8): Show |
12 | HG00735.hp1 HG01167.hp1 HG01169.hp2 others(9): Show |
intron_variant | MODIFIER | c.2564-799C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66254236 | |||||||
| chrX:66254255 | A | T | 4 | a0001c0001t0001g0156 a0001c0001t0001g0174 a0001c0001t0001g0203 others(1): Show |
4 | HG00733.hp2 HG01070.hp2 HG01074.hp1 others(1): Show |
intron_variant | MODIFIER | c.2564-780A>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66254255 | |||||||
| chrX:66254263 | G | T | 1 | a0001c0001t0001g0159 | 1 | NA18986.hp1 | intron_variant | MODIFIER | c.2564-772G>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66254263 | |||||||
| chrX:66254307 | C | G | 2 | a0001c0003t0001g0027 a0001c0003t0002g0026 |
2 | HG02109.hp2 HG03041.hp1 |
intron_variant | MODIFIER | c.2564-728C>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66254307 | |||||||
| chrX:66254817 | T | C | 1 | a0007c0012t0002g0077 | 1 | HG02273.hp1 | intron_variant | MODIFIER | c.2564-218T>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66254817 | |||||||
| chrX:66254932 | C | T | 196 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(193): Show |
197 | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(194): Show |
intron_variant | MODIFIER | c.2564-103C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 15/20 | chrX | 66254932 | |||||||
| chrX:66255294 | G | A | 9 | a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0103 others(6): Show |
9 | HG00597.hp1 NA18949.hp2 NA18962.hp1 others(6): Show |
intron_variant | MODIFIER | c.2670+153G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 16/20 | chrX | 66255294 | |||||||
| chrX:66255368 | C | A | 1 | a0001c0001t0001g0133 | 1 | NA18940.hp1 | intron_variant | MODIFIER | c.2670+227C>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 16/20 | chrX | 66255368 | |||||||
| chrX:66255392 | TA | T | 212 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(209): Show |
213 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(210): Show |
intron_variant | MODIFIER | c.2670+260delA | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 16/20 | INFO_REALIGN_3_PRIME | chrX | 66255392 | ||||||
| chrX:66255427 | CAAAA | C | 18 | a0001c0003t0001g0001 a0001c0003t0001g0002 a0001c0003t0001g0017 others(15): Show |
19 | HG00735.hp1 HG01167.hp1 HG01169.hp2 others(16): Show |
intron_variant | MODIFIER | c.2670+287_2670+290d others(6): Show |
HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 16/20 | chrX | 66255427 | |||||||
| chrX:66256450 | G | T | 1 | a0001c0001t0001g0127 | 1 | NA18961.hp1 | intron_variant | MODIFIER | c.2896+120G>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 17/20 | chrX | 66256450 | |||||||
| chrX:66256565 | G | A | 4 | a0001c0003t0001g0028 a0001c0003t0001g0029 a0001c0003t0001g0030 others(1): Show |
4 | HG02622.hp2 HG02922.hp1 HG03098.hp1 others(1): Show |
intron_variant | MODIFIER | c.2896+235G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 17/20 | chrX | 66256565 | |||||||
| chrX:66256580 | G | A | 1 | a0001c0003t0001g0021 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.2896+250G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 17/20 | chrX | 66256580 | |||||||
| chrX:66256623 | T | G | 1 | a0001c0002t0002g0009 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.2896+293T>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 17/20 | chrX | 66256623 | |||||||
| chrX:66256649 | G | A | 1 | a0001c0001t0001g0153 | 1 | HG00735.hp2 | intron_variant | MODIFIER | c.2896+319G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 17/20 | chrX | 66256649 | |||||||
| chrX:66256799 | G | C | 3 | a0002c0004t0002g0013 a0002c0004t0002g0014 a0002c0004t0002g0015 |
3 | HG01891.hp1 HG02809.hp2 HG02970.hp1 |
intron_variant | MODIFIER | c.2896+469G>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 17/20 | chrX | 66256799 | |||||||
| chrX:66257101 | A | T | 21 | a0001c0003t0001g0001 a0001c0003t0001g0002 a0001c0003t0001g0017 others(18): Show |
22 | HG00735.hp1 HG01167.hp1 HG01169.hp2 others(19): Show |
intron_variant | MODIFIER | c.2896+771A>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 17/20 | chrX | 66257101 | |||||||
| chrX:66257247 | CAGTT | C | 4 | a0001c0003t0001g0028 a0001c0003t0001g0029 a0001c0003t0001g0030 others(1): Show |
4 | HG02622.hp2 HG02922.hp1 HG03098.hp1 others(1): Show |
intron_variant | MODIFIER | c.2896+920_2896+923d others(6): Show |
HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 17/20 | INFO_REALIGN_3_PRIME | chrX | 66257247 | ||||||
| chrX:66257254 | G | A | 3 | a0001c0002t0002g0040 a0001c0002t0002g0041 a0001c0002t0002g0042 |
3 | HG01884.hp1 HG02257.hp2 HG02451.hp2 |
intron_variant | MODIFIER | c.2896+924G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 17/20 | chrX | 66257254 | |||||||
| chrX:66257409 | G | T | 1 | a0001c0001t0001g0119 | 1 | HG00642.hp1 | intron_variant | MODIFIER | c.2896+1079G>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 17/20 | chrX | 66257409 | |||||||
| chrX:66257868 | A | T | 17 | a0001c0002t0001g0046 a0001c0002t0002g0044 a0001c0002t0002g0045 others(14): Show |
17 | HG01255.hp1 HG02109.hp1 HG02145.hp1 others(14): Show |
intron_variant | MODIFIER | c.2897-972A>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 17/20 | chrX | 66257868 | |||||||
| chrX:66258503 | G | A | 130 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(127): Show |
130 | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(127): Show |
intron_variant | MODIFIER | c.2897-337G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 17/20 | chrX | 66258503 | |||||||
| chrX:66258527 | T | C | 1 | a0008c0014t0001g0079 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.2897-313T>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 17/20 | chrX | 66258527 | |||||||
| chrX:66258737 | C | T | 3 | a0001c0002t0001g0056 a0001c0002t0001g0059 a0001c0002t0002g0057 |
3 | HG00741.hp1 HG01192.hp1 HG01516.hp1 |
intron_variant | MODIFIER | c.2897-103C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 17/20 | chrX | 66258737 | |||||||
| chrX:66258800 | T | TTTTTC | 5 | a0001c0002t0001g0025 a0001c0002t0001g0056 a0001c0003t0001g0027 others(2): Show |
5 | HG01192.hp1 HG02055.hp1 HG02109.hp2 others(2): Show |
intron_variant | MODIFIER | c.2897-15_2897-11dup others(5): Show |
HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 17/20 | INFO_REALIGN_3_PRIME | chrX | 66258800 | ||||||
| chrX:66259080 | T | TA | 158 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(155): Show |
159 | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(156): Show |
intron_variant | MODIFIER | c.3036+104dupA | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 18/20 | INFO_REALIGN_3_PRIME | chrX | 66259080 | ||||||
| chrX:66259159 | C | T | 1 | a0001c0001t0001g0191 | 1 | HG03710.hp1 | intron_variant | MODIFIER | c.3036+180C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 18/20 | chrX | 66259159 | |||||||
| chrX:66259541 | T | G | 1 | a0003c0006t0001g0084 | 1 | NA18959.hp1 | intron_variant | MODIFIER | c.3037-559T>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 18/20 | chrX | 66259541 | |||||||
| chrX:66259675 | G | A | 1 | a0001c0002t0001g0059 | 1 | HG00741.hp1 | intron_variant | MODIFIER | c.3037-425G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 18/20 | chrX | 66259675 | |||||||
| chrX:66259711 | C | CT | 7 | a0001c0002t0002g0060 a0001c0002t0002g0069 a0001c0003t0001g0081 others(4): Show |
7 | HG02615.hp2 HG02647.hp1 HG03130.hp1 others(4): Show |
intron_variant | MODIFIER | c.3037-374dupT | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 18/20 | INFO_REALIGN_3_PRIME | chrX | 66259711 | ||||||
| chrX:66259711 | CT | C | 14 | a0001c0001t0001g0129 a0001c0003t0001g0001 a0001c0003t0001g0002 others(11): Show |
15 | HG00735.hp1 HG01081.hp1 HG01167.hp1 others(12): Show |
intron_variant | MODIFIER | c.3037-374delT | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 18/20 | INFO_REALIGN_3_PRIME | chrX | 66259711 | ||||||
| chrX:66259975 | C | T | 1 | a0001c0003t0002g0007 | 1 | HG02896.hp1 | intron_variant | MODIFIER | c.3037-125C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 18/20 | chrX | 66259975 | |||||||
| chrX:66260500 | A | G | 158 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(155): Show |
159 | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(156): Show |
intron_variant | MODIFIER | c.3199+238A>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 19/20 | chrX | 66260500 | |||||||
| chrX:66260769 | C | CT | 18 | a0001c0002t0001g0046 a0001c0002t0002g0044 a0001c0002t0002g0045 others(15): Show |
18 | HG01255.hp1 HG02109.hp1 HG02145.hp1 others(15): Show |
intron_variant | MODIFIER | c.3199+518dupT | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 19/20 | INFO_REALIGN_3_PRIME | chrX | 66260769 | ||||||
| chrX:66261078 | A | C | 2 | a0001c0001t0001g0097 a0001c0001t0001g0168 |
2 | NA18949.hp1 NA18953.hp1 |
intron_variant | MODIFIER | c.3199+816A>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 19/20 | chrX | 66261078 | |||||||
| chrX:66261137 | C | A | 3 | a0001c0003t0001g0081 a0001c0003t0002g0082 a0001c0010t0001g0080 |
3 | HG02615.hp2 HG03130.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.3199+875C>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 19/20 | chrX | 66261137 | |||||||
| chrX:66261333 | G | A | 129 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(126): Show |
129 | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(126): Show |
intron_variant | MODIFIER | c.3199+1071G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 19/20 | chrX | 66261333 | |||||||
| chrX:66261427 | G | T | 1 | a0001c0001t0001g0156 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.3199+1165G>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 19/20 | chrX | 66261427 | |||||||
| chrX:66261538 | GT | G | 147 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(144): Show |
148 | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(145): Show |
intron_variant | MODIFIER | c.3199+1292delT | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 19/20 | INFO_REALIGN_3_PRIME | chrX | 66261538 | ||||||
| chrX:66261538 | GTT | G | 10 | a0001c0001t0001g0093 a0001c0001t0001g0097 a0001c0001t0001g0120 others(7): Show |
10 | HG00609.hp1 HG01891.hp1 HG02809.hp2 others(7): Show |
intron_variant | MODIFIER | c.3199+1291_3199+129 others(6): Show |
HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 19/20 | INFO_REALIGN_3_PRIME | chrX | 66261538 | ||||||
| chrX:66261544 | T | C | 1 | a0001c0002t0002g0064 | 1 | HG01978.hp2 | intron_variant | MODIFIER | c.3199+1282T>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 19/20 | chrX | 66261544 | |||||||
| chrX:66261670 | G | A | 129 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(126): Show |
129 | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(126): Show |
intron_variant | MODIFIER | c.3199+1408G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 19/20 | chrX | 66261670 | |||||||
| chrX:66261920 | G | T | 1 | a0001c0001t0001g0154 | 1 | HG03654.hp1 | intron_variant | MODIFIER | c.3199+1658G>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 19/20 | chrX | 66261920 | |||||||
| chrX:66261992 | A | G | 1 | a0001c0003t0002g0210 | 1 | HG01081.hp1 | intron_variant | MODIFIER | c.3200-1652A>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 19/20 | chrX | 66261992 | |||||||
| chrX:66262117 | C | T | 1 | a0001c0002t0002g0068 | 1 | HG01169.hp1 | intron_variant | MODIFIER | c.3200-1527C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 19/20 | chrX | 66262117 | |||||||
| chrX:66262215 | A | T | 1 | a0001c0013t0002g0208 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.3200-1429A>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 19/20 | chrX | 66262215 | |||||||
| chrX:66262259 | A | G | 2 | a0001c0002t0001g0043 a0001c0002t0001g0215 |
2 | HG02280.hp2 HG02886.hp2 |
intron_variant | MODIFIER | c.3200-1385A>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 19/20 | chrX | 66262259 | |||||||
| chrX:66262269 | T | G | 130 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(127): Show |
130 | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(127): Show |
intron_variant | MODIFIER | c.3200-1375T>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 19/20 | chrX | 66262269 | |||||||
| chrX:66262332 | G | A | 1 | a0001c0002t0002g0071 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.3200-1312G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 19/20 | chrX | 66262332 | |||||||
| chrX:66262416 | C | T | 2 | a0001c0002t0001g0043 a0001c0002t0001g0215 |
2 | HG02280.hp2 HG02886.hp2 |
intron_variant | MODIFIER | c.3200-1228C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 19/20 | chrX | 66262416 | |||||||
| chrX:66262518 | A | T | 7 | a0001c0003t0001g0027 a0001c0003t0001g0028 a0001c0003t0001g0029 others(4): Show |
7 | HG02055.hp1 HG02109.hp2 HG02622.hp2 others(4): Show |
intron_variant | MODIFIER | c.3200-1126A>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 19/20 | chrX | 66262518 | |||||||
| chrX:66262828 | A | G | 1 | a0001c0001t0001g0148 | 1 | HG00597.hp1 | intron_variant | MODIFIER | c.3200-816A>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 19/20 | chrX | 66262828 | |||||||
| chrX:66262843 | G | T | 1 | a0001c0002t0002g0037 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.3200-801G>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 19/20 | chrX | 66262843 | |||||||
| chrX:66263010 | G | A | 129 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(126): Show |
129 | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(126): Show |
intron_variant | MODIFIER | c.3200-634G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 19/20 | chrX | 66263010 | |||||||
| chrX:66263105 | G | T | 129 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(126): Show |
129 | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(126): Show |
intron_variant | MODIFIER | c.3200-539G>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 19/20 | chrX | 66263105 | |||||||
| chrX:66263127 | A | C | 3 | a0001c0003t0001g0081 a0001c0003t0002g0082 a0001c0010t0001g0080 |
3 | HG02615.hp2 HG03130.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.3200-517A>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 19/20 | chrX | 66263127 | |||||||
| chrX:66263135 | G | A | 4 | a0001c0003t0002g0209 a0001c0003t0002g0210 a0001c0003t0002g0211 others(1): Show |
4 | HG00738.hp1 HG01081.hp1 HG02647.hp1 others(1): Show |
intron_variant | MODIFIER | c.3200-509G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 19/20 | chrX | 66263135 | |||||||
| chrX:66263247 | A | C | 1 | a0001c0001t0001g0085 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.3200-397A>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 19/20 | chrX | 66263247 | |||||||
| chrX:66263326 | A | G | 1 | a0001c0002t0002g0057 | 1 | HG01516.hp1 | intron_variant | MODIFIER | c.3200-318A>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 19/20 | chrX | 66263326 | |||||||
| chrX:66263588 | T | C | 3 | a0001c0003t0001g0081 a0001c0003t0002g0082 a0001c0010t0001g0080 |
3 | HG02615.hp2 HG03130.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.3200-56T>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 19/20 | chrX | 66263588 | |||||||
| chrX:66263714 | G | T | 2 | a0001c0001t0001g0107 a0001c0001t0001g0146 |
2 | NA18971.hp1 NA19056.hp1 |
intron_variant | MODIFIER | c.3244+26G>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 20/20 | chrX | 66263714 | |||||||
| chrX:66263875 | T | G | 2 | a0004c0007t0001g0166 a0004c0007t0001g0167 |
2 | NA18984.hp1 NA19009.hp1 |
intron_variant | MODIFIER | c.3244+187T>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 20/20 | chrX | 66263875 | |||||||
| chrX:66264016 | A | C | 3 | a0001c0002t0002g0040 a0001c0002t0002g0041 a0001c0002t0002g0042 |
3 | HG01884.hp1 HG02257.hp2 HG02451.hp2 |
intron_variant | MODIFIER | c.3244+328A>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 20/20 | chrX | 66264016 | |||||||
| chrX:66264250 | A | AAT | 5 | a0001c0001t0001g0089 a0001c0001t0001g0093 a0001c0001t0001g0101 others(2): Show |
5 | HG01516.hp2 HG02602.hp1 HG02615.hp2 others(2): Show |
intron_variant | MODIFIER | c.3244+577_3244+578d others(4): Show |
HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 20/20 | INFO_REALIGN_3_PRIME | chrX | 66264250 | ||||||
| chrX:66264254 | T | TATATATA others(23): Show |
2 | a0001c0001t0001g0133 a0001c0001t0001g0169 |
2 | HG02132.hp1 NA18940.hp1 |
intron_variant | MODIFIER | c.3244+579_3244+608d others(32): Show |
HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 20/20 | INFO_REALIGN_3_PRIME | chrX | 66264254 | ||||||
| chrX:66264284 | A | AAT | 4 | a0001c0002t0002g0071 a0001c0003t0001g0081 a0001c0003t0002g0082 others(1): Show |
4 | HG02615.hp2 HG03130.hp1 NA19030.hp1 others(1): Show |
intron_variant | MODIFIER | c.3244+609_3244+610d others(4): Show |
HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 20/20 | INFO_REALIGN_3_PRIME | chrX | 66264284 | ||||||
| chrX:66264299 | T | A | 1 | a0001c0002t0002g0054 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.3244+611T>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 20/20 | chrX | 66264299 | |||||||
| chrX:66264401 | A | C | 7 | a0001c0003t0001g0027 a0001c0003t0001g0028 a0001c0003t0001g0029 others(4): Show |
7 | HG02055.hp1 HG02109.hp2 HG02622.hp2 others(4): Show |
intron_variant | MODIFIER | c.3244+713A>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 20/20 | chrX | 66264401 | |||||||
| chrX:66264462 | T | G | 1 | a0001c0001t0001g0196 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.3244+774T>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 20/20 | chrX | 66264462 | |||||||
| chrX:66264520 | G | T | 2 | a0001c0001t0001g0157 a0001c0001t0001g0158 |
2 | NA18944.hp1 NA19083.hp1 |
intron_variant | MODIFIER | c.3244+832G>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 20/20 | chrX | 66264520 | |||||||
| chrX:66264616 | G | A | 7 | a0001c0002t0002g0045 a0001c0002t0002g0048 a0001c0002t0002g0049 others(4): Show |
7 | HG02109.hp1 HG02145.hp1 HG02970.hp2 others(4): Show |
intron_variant | MODIFIER | c.3244+928G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 20/20 | chrX | 66264616 | |||||||
| chrX:66264653 | T | C | 1 | a0001c0003t0002g0007 | 1 | HG02896.hp1 | intron_variant | MODIFIER | c.3244+965T>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 20/20 | chrX | 66264653 | |||||||
| chrX:66264715 | G | C | 129 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(126): Show |
129 | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(126): Show |
intron_variant | MODIFIER | c.3244+1027G>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 20/20 | chrX | 66264715 | |||||||
| chrX:66264806 | T | TTA | 3 | a0001c0003t0001g0081 a0001c0003t0002g0082 a0001c0010t0001g0080 |
3 | HG02615.hp2 HG03130.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.3244+1130_3244+113 others(6): Show |
HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 20/20 | INFO_REALIGN_3_PRIME | chrX | 66264806 | ||||||
| chrX:66264818 | A | T | 3 | a0001c0002t0002g0040 a0001c0002t0002g0041 a0001c0002t0002g0042 |
3 | HG01884.hp1 HG02257.hp2 HG02451.hp2 |
intron_variant | MODIFIER | c.3244+1130A>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 20/20 | chrX | 66264818 | |||||||
| chrX:66264820 | T | A | 1 | a0001c0002t0002g0010 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.3244+1132T>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 20/20 | chrX | 66264820 | |||||||
| chrX:66264852 | A | T | 7 | a0001c0003t0001g0027 a0001c0003t0001g0028 a0001c0003t0001g0029 others(4): Show |
7 | HG02055.hp1 HG02109.hp2 HG02622.hp2 others(4): Show |
intron_variant | MODIFIER | c.3244+1164A>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 20/20 | chrX | 66264852 | |||||||
| chrX:66264899 | G | A | 1 | a0008c0014t0001g0079 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.3244+1211G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 20/20 | chrX | 66264899 | |||||||
| chrX:66264914 | T | C | 129 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(126): Show |
129 | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(126): Show |
intron_variant | MODIFIER | c.3244+1226T>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 20/20 | chrX | 66264914 | |||||||
| chrX:66264978 | T | C | 158 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(155): Show |
159 | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(156): Show |
intron_variant | MODIFIER | c.3244+1290T>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 20/20 | chrX | 66264978 | |||||||
| chrX:66265071 | A | G | 3 | a0001c0002t0002g0040 a0001c0002t0002g0041 a0001c0002t0002g0042 |
3 | HG01884.hp1 HG02257.hp2 HG02451.hp2 |
intron_variant | MODIFIER | c.3245-1369A>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 20/20 | chrX | 66265071 | |||||||
| chrX:66265272 | T | G | 1 | a0001c0001t0001g0124 | 1 | NA19060.hp1 | intron_variant | MODIFIER | c.3245-1168T>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 20/20 | chrX | 66265272 | |||||||
| chrX:66265276 | C | T | 11 | a0001c0003t0001g0002 a0001c0003t0001g0018 a0001c0003t0001g0019 others(8): Show |
11 | HG00735.hp1 HG01891.hp1 HG02258.hp1 others(8): Show |
intron_variant | MODIFIER | c.3245-1164C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 20/20 | chrX | 66265276 | |||||||
| chrX:66265356 | G | T | 1 | a0001c0002t0002g0071 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.3245-1084G>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 20/20 | chrX | 66265356 | |||||||
| chrX:66265589 | G | C | 129 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(126): Show |
129 | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(126): Show |
intron_variant | MODIFIER | c.3245-851G>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 20/20 | chrX | 66265589 | |||||||
| chrX:66265616 | C | G | 4 | a0001c0003t0002g0209 a0001c0003t0002g0210 a0001c0003t0002g0211 others(1): Show |
4 | HG00738.hp1 HG01081.hp1 HG02647.hp1 others(1): Show |
intron_variant | MODIFIER | c.3245-824C>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 20/20 | chrX | 66265616 | |||||||
| chrX:66265675 | A | T | 4 | a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 others(1): Show |
4 | HG01257.hp2 HG01258.hp1 HG01261.hp1 others(1): Show |
intron_variant | MODIFIER | c.3245-765A>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 20/20 | chrX | 66265675 | |||||||
| chrX:66265904 | A | G | 1 | a0001c0002t0001g0043 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.3245-536A>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 20/20 | chrX | 66265904 | |||||||
| chrX:66266007 | A | C | 2 | a0001c0002t0001g0043 a0001c0002t0001g0215 |
2 | HG02280.hp2 HG02886.hp2 |
intron_variant | MODIFIER | c.3245-433A>C | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 20/20 | chrX | 66266007 | |||||||
| chrX:66266128 | C | CT | 20 | a0001c0001t0001g0120 a0001c0001t0001g0198 a0001c0001t0001g0201 others(17): Show |
20 | HG00099.hp1 HG00609.hp1 HG01255.hp1 others(17): Show |
intron_variant | MODIFIER | c.3245-302dupT | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 20/20 | INFO_REALIGN_3_PRIME | chrX | 66266128 | ||||||
| chrX:66266139 | A | G | 1 | a0001c0013t0002g0208 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.3245-301A>G | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 20/20 | chrX | 66266139 | |||||||
| chrX:66266323 | G | A | 1 | a0001c0003t0001g0081 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.3245-117G>A | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 20/20 | chrX | 66266323 | |||||||
| chrX:66266330 | C | T | 158 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(155): Show |
159 | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(156): Show |
intron_variant | MODIFIER | c.3245-110C>T | HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 20/20 | chrX | 66266330 |