Search by Genic region
Multiple Alignments (by aa haplotype frequency)
Multiple Alignments (by aa haplotype similarity)
| Item | Value |
|---|---|
| geneid | 2060 |
| ensemblid | ENSG00000085832.18 |
| hgncid | 3419 |
| symbol | EPS15 |
| name | epidermal growth factor receptor pathway substrate 15 |
| refseq_nuc | NM_001981.3 |
| refseq_prot | NP_001972.1 |
| ensembl_nuc | ENST00000371733.8 |
| ensembl_prot | ENSP00000360798.3 |
| mane_status | MANE Select |
| chr | chr1 |
| start | 51354263 |
| end | 51519266 |
| strand | - |
| ver | v1.2 |
| region | chr1:51354263-51519266 |
| region5000 | chr1:51349263-51524266 |
| regionname0 | EPS15_chr1_51354263_51519266 |
| regionname5000 | EPS15_chr1_51349263_51524266 |
| ahapid | grch38/chm13v2 | alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001 | 1/0 | 896 | 75 | 26 | 19 | 10 | 3 | 16 | 4 | EPS15_chr1_51349263_51524266 | EPS15 | MAAAA others(891): Show |
chr1 | 51349263 | 51524266 |
| a0002 | 0/1 | 896 | 68 | 44 | 11 | 0 | 6 | 6 | 0 | EPS15_chr1_51349263_51524266 | EPS15 | MAAAA others(891): Show |
chr1 | 51349263 | 51524266 |
| a0003 | 0/0 | 896 | 2 | 0 | 1 | 0 | 1 | 0 | 0 | EPS15_chr1_51349263_51524266 | EPS15 | MAAAA others(891): Show |
chr1 | 51349263 | 51524266 |
| a0004 | 0/0 | 896 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | EPS15_chr1_51349263_51524266 | EPS15 | MAAAA others(891): Show |
chr1 | 51349263 | 51524266 |
| a0005 | 0/0 | 896 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | EPS15_chr1_51349263_51524266 | EPS15 | MAAAA others(891): Show |
chr1 | 51349263 | 51524266 |
| a0006 | 0/0 | 896 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | EPS15_chr1_51349263_51524266 | EPS15 | MAAAA others(891): Show |
chr1 | 51349263 | 51524266 |
| a0007 | 0/0 | 896 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | EPS15_chr1_51349263_51524266 | EPS15 | MAAAA others(891): Show |
chr1 | 51349263 | 51524266 |
| a0008 | 0/0 | 896 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | EPS15_chr1_51349263_51524266 | EPS15 | MAAAA others(891): Show |
chr1 | 51349263 | 51524266 |
| a0009 | 0/0 | 896 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | EPS15_chr1_51349263_51524266 | EPS15 | MAAAA others(891): Show |
chr1 | 51349263 | 51524266 |
| a0010 | 0/0 | 896 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | EPS15_chr1_51349263_51524266 | EPS15 | MAAAA others(891): Show |
chr1 | 51349263 | 51524266 |
| achapid | grch38/chm13v2 | alen | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | aseq | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0002 | 0/0 | 2688 | 49 | 20 | 7 | 10 | 1 | 11 | EPS15_chr1_51349263_51524266 | EPS15 | ATGGC others(2683): Show |
chr1 | 51349263 | 51524266 | ||
| a0001c0003 | 1/0 | 2688 | 24 | 5 | 12 | 0 | 1 | 5 | EPS15_chr1_51349263_51524266 | EPS15 | ATGGC others(2683): Show |
chr1 | 51349263 | 51524266 | ||
| a0001c0006 | 0/0 | 2688 | 2 | 1 | 0 | 0 | 1 | 0 | EPS15_chr1_51349263_51524266 | EPS15 | ATGGC others(2683): Show |
chr1 | 51349263 | 51524266 | ||
| a0002c0001 | 0/1 | 2688 | 53 | 35 | 9 | 0 | 6 | 2 | EPS15_chr1_51349263_51524266 | EPS15 | ATGGC others(2683): Show |
chr1 | 51349263 | 51524266 | ||
| a0002c0004 | 0/0 | 2688 | 13 | 7 | 2 | 0 | 0 | 4 | EPS15_chr1_51349263_51524266 | EPS15 | ATGGC others(2683): Show |
chr1 | 51349263 | 51524266 | ||
| a0002c0007 | 0/0 | 2688 | 1 | 1 | 0 | 0 | 0 | 0 | EPS15_chr1_51349263_51524266 | EPS15 | ATGGC others(2683): Show |
chr1 | 51349263 | 51524266 | ||
| a0002c0014 | 0/0 | 2688 | 1 | 1 | 0 | 0 | 0 | 0 | EPS15_chr1_51349263_51524266 | EPS15 | ATGGC others(2683): Show |
chr1 | 51349263 | 51524266 | ||
| a0003c0005 | 0/0 | 2688 | 2 | 0 | 1 | 0 | 1 | 0 | EPS15_chr1_51349263_51524266 | EPS15 | ATGGC others(2683): Show |
chr1 | 51349263 | 51524266 | ||
| a0004c0010 | 0/0 | 2688 | 1 | 0 | 1 | 0 | 0 | 0 | EPS15_chr1_51349263_51524266 | EPS15 | ATGGC others(2683): Show |
chr1 | 51349263 | 51524266 | ||
| a0005c0011 | 0/0 | 2688 | 1 | 1 | 0 | 0 | 0 | 0 | EPS15_chr1_51349263_51524266 | EPS15 | ATGGC others(2683): Show |
chr1 | 51349263 | 51524266 | ||
| a0006c0013 | 0/0 | 2688 | 1 | 1 | 0 | 0 | 0 | 0 | EPS15_chr1_51349263_51524266 | EPS15 | ATGGC others(2683): Show |
chr1 | 51349263 | 51524266 | ||
| a0007c0008 | 0/0 | 2688 | 1 | 1 | 0 | 0 | 0 | 0 | EPS15_chr1_51349263_51524266 | EPS15 | ATGGC others(2683): Show |
chr1 | 51349263 | 51524266 | ||
| a0008c0012 | 0/0 | 2688 | 1 | 1 | 0 | 0 | 0 | 0 | EPS15_chr1_51349263_51524266 | EPS15 | ATGGC others(2683): Show |
chr1 | 51349263 | 51524266 | ||
| a0009c0009 | 0/0 | 2688 | 1 | 1 | 0 | 0 | 0 | 0 | EPS15_chr1_51349263_51524266 | EPS15 | ATGGC others(2683): Show |
chr1 | 51349263 | 51524266 | ||
| a0010c0015 | 0/0 | 2688 | 1 | 1 | 0 | 0 | 0 | 0 | EPS15_chr1_51349263_51524266 | EPS15 | ATGGC others(2683): Show |
chr1 | 51349263 | 51524266 |
| acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0002t0001 | 0/0 | 5163 | 29 | 5 | 5 | 8 | 1 | 10 | EPS15_chr1_51349263_51524266 | EPS15 | GTCTT others(5158): Show |
chr1 | 51349263 | 51524266 |
| a0001c0002t0002 | 0/0 | 5163 | 2 | 2 | 0 | 0 | 0 | 0 | EPS15_chr1_51349263_51524266 | EPS15 | GTCTT others(5158): Show |
chr1 | 51349263 | 51524266 |
| a0001c0002t0003 | 0/0 | 5163 | 12 | 12 | 0 | 0 | 0 | 0 | EPS15_chr1_51349263_51524266 | EPS15 | GTCTT others(5158): Show |
chr1 | 51349263 | 51524266 |
| a0001c0002t0013 | 0/0 | 5163 | 2 | 0 | 2 | 0 | 0 | 0 | EPS15_chr1_51349263_51524266 | EPS15 | GTCTT others(5158): Show |
chr1 | 51349263 | 51524266 |
| a0001c0002t0017 | 0/0 | 5163 | 1 | 1 | 0 | 0 | 0 | 0 | EPS15_chr1_51349263_51524266 | EPS15 | GTCTT others(5158): Show |
chr1 | 51349263 | 51524266 |
| a0001c0002t0018 | 0/0 | 5163 | 1 | 0 | 0 | 1 | 0 | 0 | EPS15_chr1_51349263_51524266 | EPS15 | GTCTT others(5158): Show |
chr1 | 51349263 | 51524266 |
| a0001c0002t0019 | 0/0 | 5163 | 1 | 0 | 0 | 1 | 0 | 0 | EPS15_chr1_51349263_51524266 | EPS15 | GTCTT others(5158): Show |
chr1 | 51349263 | 51524266 |
| a0001c0002t0020 | 0/0 | 5164 | 1 | 0 | 0 | 0 | 0 | 1 | EPS15_chr1_51349263_51524266 | EPS15 | GTCTT others(5159): Show |
chr1 | 51349263 | 51524266 |
| a0001c0003t0001 | 1/0 | 5163 | 23 | 4 | 12 | 0 | 1 | 5 | EPS15_chr1_51349263_51524266 | EPS15 | GTCTT others(5158): Show |
chr1 | 51349263 | 51524266 |
| a0001c0003t0003 | 0/0 | 5163 | 1 | 1 | 0 | 0 | 0 | 0 | EPS15_chr1_51349263_51524266 | EPS15 | GTCTT others(5158): Show |
chr1 | 51349263 | 51524266 |
| a0001c0006t0001 | 0/0 | 5163 | 2 | 1 | 0 | 0 | 1 | 0 | EPS15_chr1_51349263_51524266 | EPS15 | GTCTT others(5158): Show |
chr1 | 51349263 | 51524266 |
| a0002c0001t0004 | 0/1 | 5163 | 12 | 5 | 3 | 0 | 3 | 0 | EPS15_chr1_51349263_51524266 | EPS15 | GTCTT others(5158): Show |
chr1 | 51349263 | 51524266 |
| a0002c0001t0005 | 0/0 | 5164 | 10 | 9 | 1 | 0 | 0 | 0 | EPS15_chr1_51349263_51524266 | EPS15 | GTCTT others(5159): Show |
chr1 | 51349263 | 51524266 |
| a0002c0001t0006 | 0/0 | 5162 | 4 | 4 | 0 | 0 | 0 | 0 | EPS15_chr1_51349263_51524266 | EPS15 | GTCTT others(5157): Show |
chr1 | 51349263 | 51524266 |
| a0002c0001t0007 | 0/0 | 5162 | 3 | 1 | 2 | 0 | 0 | 0 | EPS15_chr1_51349263_51524266 | EPS15 | GTCTT others(5157): Show |
chr1 | 51349263 | 51524266 |
| a0002c0001t0008 | 0/0 | 5164 | 4 | 0 | 1 | 0 | 3 | 0 | EPS15_chr1_51349263_51524266 | EPS15 | GTCTT others(5159): Show |
chr1 | 51349263 | 51524266 |
| a0002c0001t0009 | 0/0 | 5163 | 4 | 1 | 1 | 0 | 0 | 2 | EPS15_chr1_51349263_51524266 | EPS15 | GTCTT others(5158): Show |
chr1 | 51349263 | 51524266 |
| a0002c0001t0010 | 0/0 | 5164 | 3 | 3 | 0 | 0 | 0 | 0 | EPS15_chr1_51349263_51524266 | EPS15 | GTCTT others(5159): Show |
chr1 | 51349263 | 51524266 |
| a0002c0001t0011 | 0/0 | 5163 | 3 | 3 | 0 | 0 | 0 | 0 | EPS15_chr1_51349263_51524266 | EPS15 | GTCTT others(5158): Show |
chr1 | 51349263 | 51524266 |
| a0002c0001t0012 | 0/0 | 5160 | 3 | 3 | 0 | 0 | 0 | 0 | EPS15_chr1_51349263_51524266 | EPS15 | GTCTT others(5155): Show |
chr1 | 51349263 | 51524266 |
| a0002c0001t0014 | 0/0 | 5164 | 2 | 2 | 0 | 0 | 0 | 0 | EPS15_chr1_51349263_51524266 | EPS15 | GTCTT others(5159): Show |
chr1 | 51349263 | 51524266 |
| a0002c0001t0016 | 0/0 | 5162 | 1 | 1 | 0 | 0 | 0 | 0 | EPS15_chr1_51349263_51524266 | EPS15 | GTCTT others(5157): Show |
chr1 | 51349263 | 51524266 |
| a0002c0001t0021 | 0/0 | 5164 | 1 | 1 | 0 | 0 | 0 | 0 | EPS15_chr1_51349263_51524266 | EPS15 | GTCTT others(5159): Show |
chr1 | 51349263 | 51524266 |
| a0002c0001t0022 | 0/0 | 5164 | 1 | 1 | 0 | 0 | 0 | 0 | EPS15_chr1_51349263_51524266 | EPS15 | GTCTT others(5159): Show |
chr1 | 51349263 | 51524266 |
| a0002c0001t0023 | 0/0 | 5159 | 1 | 1 | 0 | 0 | 0 | 0 | EPS15_chr1_51349263_51524266 | EPS15 | GTCTT others(5154): Show |
chr1 | 51349263 | 51524266 |
| a0002c0001t0024 | 0/0 | 5159 | 1 | 0 | 1 | 0 | 0 | 0 | EPS15_chr1_51349263_51524266 | EPS15 | GTCTT others(5154): Show |
chr1 | 51349263 | 51524266 |
| a0002c0004t0002 | 0/0 | 5163 | 13 | 7 | 2 | 0 | 0 | 4 | EPS15_chr1_51349263_51524266 | EPS15 | GTCTT others(5158): Show |
chr1 | 51349263 | 51524266 |
| a0002c0007t0010 | 0/0 | 5164 | 1 | 1 | 0 | 0 | 0 | 0 | EPS15_chr1_51349263_51524266 | EPS15 | GTCTT others(5159): Show |
chr1 | 51349263 | 51524266 |
| a0002c0014t0002 | 0/0 | 5163 | 1 | 1 | 0 | 0 | 0 | 0 | EPS15_chr1_51349263_51524266 | EPS15 | GTCTT others(5158): Show |
chr1 | 51349263 | 51524266 |
| a0003c0005t0001 | 0/0 | 5163 | 2 | 0 | 1 | 0 | 1 | 0 | EPS15_chr1_51349263_51524266 | EPS15 | GTCTT others(5158): Show |
chr1 | 51349263 | 51524266 |
| a0004c0010t0026 | 0/0 | 5164 | 1 | 0 | 1 | 0 | 0 | 0 | EPS15_chr1_51349263_51524266 | EPS15 | GTCTT others(5159): Show |
chr1 | 51349263 | 51524266 |
| a0005c0011t0025 | 0/0 | 5164 | 1 | 1 | 0 | 0 | 0 | 0 | EPS15_chr1_51349263_51524266 | EPS15 | GTCTT others(5159): Show |
chr1 | 51349263 | 51524266 |
| a0006c0013t0001 | 0/0 | 5163 | 1 | 1 | 0 | 0 | 0 | 0 | EPS15_chr1_51349263_51524266 | EPS15 | GTCTT others(5158): Show |
chr1 | 51349263 | 51524266 |
| a0007c0008t0002 | 0/0 | 5163 | 1 | 1 | 0 | 0 | 0 | 0 | EPS15_chr1_51349263_51524266 | EPS15 | GTCTT others(5158): Show |
chr1 | 51349263 | 51524266 |
| a0008c0012t0007 | 0/0 | 5162 | 1 | 1 | 0 | 0 | 0 | 0 | EPS15_chr1_51349263_51524266 | EPS15 | GTCTT others(5157): Show |
chr1 | 51349263 | 51524266 |
| a0009c0009t0015 | 0/0 | 5161 | 1 | 1 | 0 | 0 | 0 | 0 | EPS15_chr1_51349263_51524266 | EPS15 | GTCTT others(5156): Show |
chr1 | 51349263 | 51524266 |
| a0010c0015t0011 | 0/0 | 5163 | 1 | 1 | 0 | 0 | 0 | 0 | EPS15_chr1_51349263_51524266 | EPS15 | GTCTT others(5158): Show |
chr1 | 51349263 | 51524266 |
| actghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0002t0001g0026 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| a0001c0002t0001g0045 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| a0001c0002t0001g0046 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| a0001c0002t0001g0047 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| a0001c0002t0001g0048 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| a0001c0002t0001g0051 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| a0001c0002t0001g0052 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| a0001c0002t0001g0056 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| a0001c0002t0001g0060 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| a0001c0002t0001g0075 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| a0001c0002t0001g0077 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| a0001c0002t0001g0079 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| a0001c0002t0001g0081 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| a0001c0002t0001g0082 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| a0001c0002t0001g0088 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| a0001c0002t0001g0096 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| a0001c0002t0001g0097 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| a0001c0002t0001g0098 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| a0001c0002t0001g0100 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| a0001c0002t0001g0101 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| a0001c0002t0001g0103 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| a0001c0002t0001g0104 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| a0001c0002t0001g0105 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| a0001c0002t0001g0110 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| a0001c0002t0001g0113 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| a0001c0002t0001g0114 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| a0001c0002t0001g0126 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| a0001c0002t0001g0127 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| a0001c0002t0001g0128 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| a0001c0002t0002g0030 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| a0001c0002t0002g0031 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| a0001c0002t0003g0049 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| a0001c0002t0003g0072 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| a0001c0002t0003g0073 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| a0001c0002t0003g0074 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| a0001c0002t0003g0078 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| a0001c0002t0003g0080 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| a0001c0002t0003g0084 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| a0001c0002t0003g0085 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| a0001c0002t0003g0086 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| a0001c0002t0003g0087 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| a0001c0002t0003g0090 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| a0001c0002t0003g0092 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| a0001c0002t0013g0089 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| a0001c0002t0013g0102 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| a0001c0002t0017g0033 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| a0001c0002t0018g0083 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| a0001c0002t0019g0055 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| a0001c0002t0020g0050 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| a0001c0003t0001g0053 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| a0001c0003t0001g0058 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| a0001c0003t0001g0059 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| a0001c0003t0001g0061 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| a0001c0003t0001g0062 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| a0001c0003t0001g0063 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| a0001c0003t0001g0064 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| a0001c0003t0001g0065 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| a0001c0003t0001g0066 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| a0001c0003t0001g0067 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| a0001c0003t0001g0068 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| a0001c0003t0001g0069 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| a0001c0003t0001g0070 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| a0001c0003t0001g0071 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| a0001c0003t0001g0076 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| a0001c0003t0001g0091 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| a0001c0003t0001g0093 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| a0001c0003t0001g0094 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| a0001c0003t0001g0095 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| a0001c0003t0001g0106 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| a0001c0003t0001g0108 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| a0001c0003t0001g0109 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| a0001c0003t0001g0111 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| a0001c0003t0003g0054 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| a0001c0006t0001g0107 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| a0001c0006t0001g0112 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| a0002c0001t0004g0018 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| a0002c0001t0004g0019 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| a0002c0001t0004g0020 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| a0002c0001t0004g0021 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| a0002c0001t0004g0022 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| a0002c0001t0004g0023 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| a0002c0001t0004g0024 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| a0002c0001t0004g0025 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| a0002c0001t0004g0042 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| a0002c0001t0004g0043 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| a0002c0001t0004g0044 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| a0002c0001t0004g0124 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| a0002c0001t0005g0139 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| a0002c0001t0005g0140 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| a0002c0001t0005g0142 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| a0002c0001t0005g0144 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| a0002c0001t0005g0145 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| a0002c0001t0005g0146 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| a0002c0001t0005g0147 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| a0002c0001t0005g0148 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| a0002c0001t0005g0149 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| a0002c0001t0005g0151 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| a0002c0001t0006g0027 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| a0002c0001t0006g0029 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| a0002c0001t0006g0034 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| a0002c0001t0006g0035 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| a0002c0001t0007g0133 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| a0002c0001t0007g0134 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| a0002c0001t0007g0135 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| a0002c0001t0008g0120 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| a0002c0001t0008g0121 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| a0002c0001t0008g0122 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| a0002c0001t0008g0123 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| a0002c0001t0009g0116 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| a0002c0001t0009g0117 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| a0002c0001t0009g0118 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| a0002c0001t0009g0119 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| a0002c0001t0010g0038 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| a0002c0001t0010g0039 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| a0002c0001t0010g0041 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| a0002c0001t0011g0130 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| a0002c0001t0011g0131 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| a0002c0001t0011g0132 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| a0002c0001t0012g0001 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| a0002c0001t0012g0002 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| a0002c0001t0012g0003 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| a0002c0001t0014g0036 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| a0002c0001t0014g0037 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| a0002c0001t0016g0028 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| a0002c0001t0021g0143 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| a0002c0001t0022g0115 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| a0002c0001t0023g0150 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| a0002c0001t0024g0141 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| a0002c0004t0002g0004 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| a0002c0004t0002g0005 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| a0002c0004t0002g0006 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| a0002c0004t0002g0007 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| a0002c0004t0002g0008 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| a0002c0004t0002g0009 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| a0002c0004t0002g0010 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| a0002c0004t0002g0011 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| a0002c0004t0002g0012 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| a0002c0004t0002g0014 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| a0002c0004t0002g0015 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| a0002c0004t0002g0016 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| a0002c0004t0002g0137 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| a0002c0007t0010g0040 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| a0002c0014t0002g0013 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| a0003c0005t0001g0017 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| a0003c0005t0001g0057 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| a0004c0010t0026g0129 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| a0005c0011t0025g0138 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| a0006c0013t0001g0099 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| a0007c0008t0002g0032 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| a0008c0012t0007g0136 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| a0009c0009t0015g0125 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| a0010c0015t0011g0152 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| HG00438 | hp1 | a0001 | c0002 | t0001 | g0127 | EAS | CHS | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| HG00438 | hp2 | a0001 | c0002 | t0001 | g0060 | EAS | CHS | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| HG00558 | hp1 | a0001 | c0002 | t0001 | g0077 | EAS | CHS | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| HG00558 | hp2 | a0001 | c0002 | t0019 | g0055 | EAS | CHS | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| HG00639 | hp1 | a0001 | c0002 | t0001 | g0104 | AMR | PUR | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| HG00639 | hp2 | a0001 | c0002 | t0001 | g0026 | AMR | PUR | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| HG00642 | hp1 | a0002 | c0001 | t0007 | g0133 | AMR | PUR | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| HG00642 | hp2 | a0001 | c0003 | t0001 | g0053 | AMR | PUR | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| HG00733 | hp1 | a0001 | c0003 | t0001 | g0094 | AMR | PUR | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| HG00733 | hp2 | a0002 | c0001 | t0004 | g0019 | AMR | PUR | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| HG00735 | hp1 | a0002 | c0001 | t0004 | g0018 | AMR | PUR | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| HG00735 | hp2 | a0002 | c0001 | t0009 | g0119 | AMR | PUR | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| HG00738 | hp1 | a0002 | c0001 | t0008 | g0123 | AMR | PUR | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| HG00738 | hp2 | a0001 | c0003 | t0001 | g0064 | AMR | PUR | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| HG00741 | hp1 | a0001 | c0003 | t0001 | g0065 | AMR | PUR | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| HG00741 | hp2 | a0001 | c0002 | t0013 | g0089 | AMR | PUR | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| HG01074 | hp1 | a0001 | c0003 | t0001 | g0091 | AMR | PUR | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| HG01074 | hp2 | a0001 | c0003 | t0001 | g0066 | AMR | PUR | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| HG01109 | hp1 | a0002 | c0001 | t0005 | g0145 | AMR | PUR | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| HG01109 | hp2 | a0004 | c0010 | t0026 | g0129 | AMR | PUR | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| HG01167 | hp1 | a0001 | c0003 | t0001 | g0095 | AMR | PUR | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| HG01167 | hp2 | a0002 | c0004 | t0002 | g0011 | AMR | PUR | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| HG01168 | hp1 | a0001 | c0003 | t0001 | g0062 | AMR | PUR | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| HG01168 | hp2 | a0001 | c0002 | t0001 | g0101 | AMR | PUR | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| HG01175 | hp1 | a0002 | c0001 | t0024 | g0141 | AMR | PUR | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| HG01175 | hp2 | a0001 | c0002 | t0001 | g0100 | AMR | PUR | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| HG01192 | hp1 | a0002 | c0001 | t0004 | g0021 | AMR | PUR | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| HG01192 | hp2 | a0001 | c0003 | t0001 | g0067 | AMR | PUR | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| HG01257 | hp1 | a0003 | c0005 | t0001 | g0057 | AMR | CLM | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| HG01257 | hp2 | a0002 | c0001 | t0007 | g0135 | AMR | CLM | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| HG01261 | hp1 | a0001 | c0003 | t0001 | g0061 | AMR | CLM | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| HG01261 | hp2 | a0001 | c0002 | t0001 | g0082 | AMR | CLM | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| HG01346 | hp1 | a0002 | c0004 | t0002 | g0004 | AMR | CLM | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| HG01346 | hp2 | a0001 | c0003 | t0001 | g0109 | AMR | CLM | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| HG01515 | hp1 | a0001 | c0003 | t0001 | g0070 | EUR | IBS | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| HG01515 | hp2 | a0002 | c0001 | t0004 | g0023 | EUR | IBS | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| HG01516 | hp1 | a0002 | c0001 | t0008 | g0120 | EUR | IBS | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| HG01516 | hp2 | a0001 | c0006 | t0001 | g0107 | EUR | IBS | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| HG01517 | hp1 | a0002 | c0001 | t0008 | g0121 | EUR | IBS | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| HG01517 | hp2 | a0002 | c0001 | t0004 | g0022 | EUR | IBS | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| HG01884 | hp1 | a0001 | c0003 | t0001 | g0059 | AFR | ACB | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| HG01884 | hp2 | a0002 | c0001 | t0021 | g0143 | AFR | ACB | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| HG01891 | hp1 | a0002 | c0004 | t0002 | g0007 | AFR | ACB | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| HG01891 | hp2 | a0002 | c0001 | t0005 | g0151 | AFR | ACB | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| HG01952 | hp1 | a0001 | c0002 | t0013 | g0102 | AMR | PEL | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| HG01952 | hp2 | a0001 | c0003 | t0001 | g0063 | AMR | PEL | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| HG02055 | hp1 | a0001 | c0002 | t0003 | g0074 | AFR | ACB | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| HG02055 | hp2 | a0002 | c0001 | t0005 | g0142 | AFR | ACB | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| HG02145 | hp1 | a0001 | c0002 | t0001 | g0052 | AFR | ACB | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| HG02145 | hp2 | a0001 | c0003 | t0003 | g0054 | AFR | ACB | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| HG02257 | hp1 | a0002 | c0001 | t0012 | g0001 | AFR | ACB | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| HG02257 | hp2 | a0005 | c0011 | t0025 | g0138 | AFR | ACB | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| HG02258 | hp1 | a0001 | c0003 | t0001 | g0058 | AFR | ACB | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| HG02258 | hp2 | a0002 | c0001 | t0023 | g0150 | AFR | ACB | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| HG02451 | hp1 | a0001 | c0002 | t0003 | g0078 | AFR | ACB | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| HG02451 | hp2 | a0002 | c0001 | t0014 | g0037 | AFR | ACB | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| HG02572 | hp1 | a0002 | c0001 | t0006 | g0029 | AFR | GWD | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| HG02572 | hp2 | a0001 | c0002 | t0001 | g0045 | AFR | GWD | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| HG02615 | hp1 | a0002 | c0001 | t0005 | g0146 | AFR | GWD | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| HG02615 | hp2 | a0001 | c0006 | t0001 | g0112 | AFR | GWD | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| HG02630 | hp1 | a0002 | c0001 | t0004 | g0043 | AFR | GWD | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| HG02630 | hp2 | a0001 | c0002 | t0002 | g0031 | AFR | GWD | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| HG02647 | hp1 | a0001 | c0002 | t0001 | g0047 | AFR | GWD | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| HG02647 | hp2 | a0001 | c0002 | t0003 | g0087 | AFR | GWD | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| HG02717 | hp1 | a0001 | c0002 | t0017 | g0033 | AFR | GWD | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| HG02717 | hp2 | a0002 | c0001 | t0010 | g0041 | AFR | GWD | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| HG02723 | hp1 | a0001 | c0002 | t0003 | g0090 | AFR | GWD | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| HG02723 | hp2 | a0002 | c0004 | t0002 | g0010 | AFR | GWD | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| HG02735 | hp1 | a0001 | c0003 | t0001 | g0071 | SAS | PJL | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| HG02735 | hp2 | a0002 | c0004 | t0002 | g0005 | SAS | PJL | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| HG02738 | hp1 | a0001 | c0002 | t0020 | g0050 | SAS | PJL | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| HG02738 | hp2 | a0002 | c0004 | t0002 | g0008 | SAS | PJL | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| HG02818 | hp1 | a0002 | c0001 | t0010 | g0039 | AFR | GWD | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| HG02818 | hp2 | a0001 | c0002 | t0001 | g0048 | AFR | GWD | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| HG02922 | hp1 | a0002 | c0004 | t0002 | g0015 | AFR | ESN | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| HG02922 | hp2 | a0002 | c0001 | t0004 | g0025 | AFR | ESN | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| HG02970 | hp1 | a0006 | c0013 | t0001 | g0099 | AFR | ESN | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| HG02970 | hp2 | a0002 | c0004 | t0002 | g0016 | AFR | ESN | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| HG02976 | hp1 | a0007 | c0008 | t0002 | g0032 | AFR | ESN | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| HG02976 | hp2 | a0002 | c0001 | t0014 | g0036 | AFR | ESN | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| HG03041 | hp1 | a0002 | c0001 | t0016 | g0028 | AFR | GWD | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| HG03041 | hp2 | a0001 | c0002 | t0003 | g0049 | AFR | GWD | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| HG03098 | hp1 | a0002 | c0001 | t0006 | g0034 | AFR | MSL | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| HG03098 | hp2 | a0001 | c0002 | t0003 | g0085 | AFR | MSL | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| HG03130 | hp1 | a0008 | c0012 | t0007 | g0136 | AFR | ESN | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| HG03130 | hp2 | a0001 | c0002 | t0003 | g0073 | AFR | ESN | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| HG03139 | hp1 | a0002 | c0001 | t0005 | g0149 | AFR | ESN | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| HG03139 | hp2 | a0002 | c0001 | t0012 | g0003 | AFR | ESN | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| HG03195 | hp1 | a0002 | c0001 | t0011 | g0132 | AFR | ESN | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| HG03195 | hp2 | a0002 | c0004 | t0002 | g0012 | AFR | ESN | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| HG03209 | hp1 | a0002 | c0001 | t0005 | g0140 | AFR | MSL | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| HG03209 | hp2 | a0002 | c0001 | t0010 | g0038 | AFR | MSL | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| HG03453 | hp1 | a0001 | c0003 | t0001 | g0111 | AFR | MSL | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| HG03453 | hp2 | a0002 | c0001 | t0004 | g0044 | AFR | MSL | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| HG03486 | hp1 | a0009 | c0009 | t0015 | g0125 | AFR | MSL | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| HG03486 | hp2 | a0002 | c0001 | t0005 | g0147 | AFR | MSL | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| HG03491 | hp1 | a0002 | c0001 | t0009 | g0117 | SAS | PJL | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| HG03491 | hp2 | a0001 | c0002 | t0001 | g0103 | SAS | PJL | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| HG03492 | hp1 | a0001 | c0002 | t0001 | g0081 | SAS | PJL | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| HG03492 | hp2 | a0002 | c0001 | t0009 | g0118 | SAS | PJL | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| HG03540 | hp1 | a0001 | c0002 | t0003 | g0092 | AFR | GWD | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| HG03540 | hp2 | a0001 | c0003 | t0001 | g0068 | AFR | GWD | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| HG03654 | hp1 | a0002 | c0004 | t0002 | g0137 | SAS | PJL | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| HG03654 | hp2 | a0001 | c0002 | t0001 | g0096 | SAS | PJL | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| HG03688 | hp1 | a0001 | c0002 | t0001 | g0098 | SAS | STU | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| HG03688 | hp2 | a0001 | c0002 | t0001 | g0051 | SAS | STU | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| HG03834 | hp1 | a0001 | c0003 | t0001 | g0093 | SAS | BEB | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| HG03834 | hp2 | a0001 | c0003 | t0001 | g0106 | SAS | BEB | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| HG04115 | hp1 | a0001 | c0003 | t0001 | g0108 | SAS | STU | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| HG04115 | hp2 | a0001 | c0002 | t0001 | g0110 | SAS | STU | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| HG04199 | hp1 | a0002 | c0004 | t0002 | g0006 | SAS | STU | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| HG04199 | hp2 | a0001 | c0002 | t0001 | g0056 | SAS | STU | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| HG04204 | hp1 | a0001 | c0002 | t0001 | g0114 | SAS | STU | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| HG04204 | hp2 | a0001 | c0003 | t0001 | g0069 | SAS | STU | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| HG04228 | hp1 | a0001 | c0002 | t0001 | g0097 | SAS | STU | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| HG04228 | hp2 | a0001 | c0002 | t0001 | g0079 | SAS | STU | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| NA18522 | hp1 | a0002 | c0004 | t0002 | g0014 | AFR | YRI | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| NA18522 | hp2 | a0002 | c0001 | t0006 | g0027 | AFR | YRI | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| NA18747 | hp1 | a0001 | c0002 | t0001 | g0126 | EAS | CHB | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| NA18747 | hp2 | a0001 | c0002 | t0001 | g0088 | EAS | CHB | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| NA18906 | hp1 | a0001 | c0002 | t0003 | g0072 | AFR | YRI | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| NA18906 | hp2 | a0002 | c0001 | t0006 | g0035 | AFR | YRI | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| NA18957 | hp1 | a0001 | c0002 | t0001 | g0113 | EAS | JPT | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| NA18957 | hp2 | a0001 | c0002 | t0018 | g0083 | EAS | JPT | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| NA19011 | hp1 | a0001 | c0002 | t0001 | g0075 | EAS | JPT | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| NA19011 | hp2 | a0001 | c0002 | t0001 | g0128 | EAS | JPT | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| NA19030 | hp1 | a0002 | c0001 | t0005 | g0144 | AFR | LWK | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| NA19030 | hp2 | a0002 | c0001 | t0009 | g0116 | AFR | LWK | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| NA19043 | hp1 | a0010 | c0015 | t0011 | g0152 | AFR | LWK | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| NA19043 | hp2 | a0002 | c0001 | t0012 | g0002 | AFR | LWK | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| NA19240 | hp1 | a0001 | c0002 | t0002 | g0030 | AFR | YRI | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| NA19240 | hp2 | a0002 | c0001 | t0004 | g0042 | AFR | YRI | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| NA20129 | hp1 | a0001 | c0002 | t0003 | g0084 | AFR | ASW | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| NA20129 | hp2 | a0002 | c0001 | t0007 | g0134 | AFR | ASW | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| NA20752 | hp1 | a0001 | c0002 | t0001 | g0105 | EUR | TSI | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| NA20752 | hp2 | a0003 | c0005 | t0001 | g0017 | EUR | TSI | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| NA20805 | hp1 | a0002 | c0001 | t0004 | g0020 | EUR | TSI | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| NA20805 | hp2 | a0002 | c0001 | t0008 | g0122 | EUR | TSI | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| HG02109 | hp1 | a0002 | c0001 | t0004 | g0124 | AFR | ACB | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| HG02109 | hp2 | a0002 | c0007 | t0010 | g0040 | AFR | ACB | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| HG02486 | hp1 | a0002 | c0001 | t0005 | g0148 | AFR | ACB | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| HG02486 | hp2 | a0002 | c0014 | t0002 | g0013 | AFR | ACB | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| HG02559 | hp1 | a0001 | c0002 | t0003 | g0086 | AFR | ACB | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| HG02559 | hp2 | a0002 | c0001 | t0011 | g0131 | AFR | ACB | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| HG03471 | hp1 | a0001 | c0002 | t0001 | g0046 | AFR | MSL | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| HG03471 | hp2 | a0002 | c0001 | t0011 | g0130 | AFR | MSL | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| HG06807 | hp1 | a0002 | c0001 | t0022 | g0115 | AFR | USA | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| HG06807 | hp2 | a0002 | c0004 | t0002 | g0009 | AFR | USA | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| NA20300 | hp1 | a0002 | c0001 | t0005 | g0139 | AFR | USA | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| NA20300 | hp2 | a0001 | c0002 | t0003 | g0080 | AFR | USA | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| homoSapiens | chm13v2 | a0002 | c0001 | t0004 | g0024 | REF | REF | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| homoSapiens | grch38p0 | a0001 | c0003 | t0001 | g0076 | REF | REF | EPS15_chr1_51349263_51524266 | EPS15 | chr1 | 51349263 | 51524266 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr1:51361184 | G | A | 1 | a0004 | 1 | HG01109.hp2 | missense_variant | MODERATE | c.2531C>T | p.Ala844Val | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 24/25 | 2566/5163 | 2531/2691 | 844/896 | chr1 | 51361184 | |||
| chr1:51361249 | T | C | 6 | a0002 a0004 a0005 others(3): Show |
72 | HG00642.hp1 HG00733.hp2 HG00735.hp1 others(69): Show |
missense_variant | MODERATE | c.2466A>G | p.Ile822Met | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 24/25 | 2501/5163 | 2466/2691 | 822/896 | chr1 | 51361249 | |||
| chr1:51361310 | A | T | 1 | a0009 | 1 | HG03486.hp1 | missense_variant | MODERATE | c.2405T>A | p.Leu802Gln | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 24/25 | 2440/5163 | 2405/2691 | 802/896 | chr1 | 51361310 | |||
| chr1:51361312 | T | G | 1 | a0005 | 1 | HG02257.hp2 | missense_variant | MODERATE | c.2403A>C | p.Lys801Asn | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 24/25 | 2438/5163 | 2403/2691 | 801/896 | chr1 | 51361312 | |||
| chr1:51405962 | A | C | 1 | a0007 | 1 | HG02976.hp1 | missense_variant | MODERATE | c.1620T>G | p.Asn540Lys | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 16/25 | 1655/5163 | 1620/2691 | 540/896 | chr1 | 51405962 | |||
| chr1:51408295 | G | A | 1 | a0003 | 2 | HG01257.hp1 NA20752.hp2 |
missense_variant | MODERATE | c.1313C>T | p.Ser438Leu | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 15/25 | 1348/5163 | 1313/2691 | 438/896 | chr1 | 51408295 | |||
| chr1:51446966 | T | C | 1 | a0008 | 1 | HG03130.hp1 | missense_variant | MODERATE | c.791A>G | p.His264Arg | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 10/25 | 826/5163 | 791/2691 | 264/896 | chr1 | 51446966 | |||
| chr1:51463782 | T | C | 1 | a0006 | 1 | HG02970.hp1 | missense_variant | MODERATE | c.392A>G | p.Lys131Arg | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 7/25 | 427/5163 | 392/2691 | 131/896 | chr1 | 51463782 | |||
| chr1:51519209 | G | A | 1 | a0010 | 1 | NA19043.hp1 | missense_variant | MODERATE | c.23C>T | p.Ser8Phe | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/25 | 58/5163 | 23/2691 | 8/896 | chr1 | 51519209 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr1:51408185 | A | G | 1 | a0002c0007 | 1 | HG02109.hp2 | synonymous_variant | LOW | c.1423T>C | p.Leu475Leu | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 15/25 | 1458/5163 | 1423/2691 | 475/896 | chr1 | 51408185 | |||
| chr1:51408218 | A | G | 1 | a0008c0012 | 1 | HG03130.hp1 | synonymous_variant | LOW | c.1390T>C | p.Leu464Leu | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 15/25 | 1425/5163 | 1390/2691 | 464/896 | chr1 | 51408218 | |||
| chr1:51408279 | G | A | 13 | a0001c0002 a0002c0001 a0002c0004 others(10): Show |
125 | HG00438.hp1 HG00438.hp2 HG00558.hp1 others(122): Show |
synonymous_variant | LOW | c.1329C>T | p.Tyr443Tyr | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 15/25 | 1364/5163 | 1329/2691 | 443/896 | chr1 | 51408279 | |||
| chr1:51447088 | T | G | 2 | a0002c0004 a0002c0014 |
14 | HG01167.hp2 HG01346.hp1 HG01891.hp1 others(11): Show |
synonymous_variant | LOW | c.669A>C | p.Ala223Ala | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 10/25 | 704/5163 | 669/2691 | 223/896 | chr1 | 51447088 | |||
| chr1:51448094 | C | A | 1 | a0001c0006 | 2 | HG01516.hp2 HG02615.hp2 |
synonymous_variant | LOW | c.603G>T | p.Val201Val | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 9/25 | 638/5163 | 603/2691 | 201/896 | chr1 | 51448094 | |||
| chr1:51471723 | G | A | 1 | a0002c0014 | 1 | HG02486.hp2 | synonymous_variant | LOW | c.180C>T | p.Ala60Ala | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 4/25 | 215/5163 | 180/2691 | 60/896 | chr1 | 51471723 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr1:51354297 | G | A | 1 | a0002c0001t0008 | 4 | HG00738.hp1 HG01516.hp1 HG01517.hp1 others(1): Show |
3_prime_UTR_variant | MODIFIER | c.*2403C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 25/25 | 2403 | chr1 | 51354297 | ||||||
| chr1:51354339 | G | C | 1 | a0002c0001t0016 | 1 | HG03041.hp1 | 3_prime_UTR_variant | MODIFIER | c.*2361C>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 25/25 | 2361 | chr1 | 51354339 | ||||||
| chr1:51354344 | T | A | 5 | a0002c0001t0007 a0002c0001t0011 a0004c0010t0026 others(2): Show |
9 | HG00642.hp1 HG01109.hp2 HG01257.hp2 others(6): Show |
3_prime_UTR_variant | MODIFIER | c.*2356A>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 25/25 | 2356 | chr1 | 51354344 | ||||||
| chr1:51354653 | C | T | 3 | a0002c0001t0004 a0002c0001t0010 a0002c0007t0010 |
15 | HG00733.hp2 HG00735.hp1 HG01192.hp1 others(12): Show |
3_prime_UTR_variant | MODIFIER | c.*2047G>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 25/25 | 2047 | chr1 | 51354653 | ||||||
| chr1:51354654 | G | A | 2 | a0001c0002t0013 a0002c0001t0021 |
3 | HG00741.hp2 HG01884.hp2 HG01952.hp1 |
3_prime_UTR_variant | MODIFIER | c.*2046C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 25/25 | 2046 | chr1 | 51354654 | ||||||
| chr1:51354743 | G | A | 2 | a0002c0001t0007 a0008c0012t0007 |
4 | HG00642.hp1 HG01257.hp2 HG03130.hp1 others(1): Show |
3_prime_UTR_variant | MODIFIER | c.*1957C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 25/25 | 1957 | chr1 | 51354743 | ||||||
| chr1:51354916 | G | A | 2 | a0002c0001t0009 a0002c0001t0022 |
5 | HG00735.hp2 HG03491.hp1 HG03492.hp2 others(2): Show |
3_prime_UTR_variant | MODIFIER | c.*1784C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 25/25 | 1784 | chr1 | 51354916 | ||||||
| chr1:51355318 | T | G | 26 | a0001c0002t0002 a0001c0002t0017 a0002c0001t0004 others(23): Show |
76 | HG00642.hp1 HG00733.hp2 HG00735.hp1 others(73): Show |
3_prime_UTR_variant | MODIFIER | c.*1382A>C | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 25/25 | 1382 | chr1 | 51355318 | ||||||
| chr1:51355374 | A | C | 5 | a0002c0001t0005 a0002c0001t0021 a0002c0001t0023 others(2): Show |
14 | HG01109.hp1 HG01175.hp1 HG01884.hp2 others(11): Show |
3_prime_UTR_variant | MODIFIER | c.*1326T>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 25/25 | 1326 | chr1 | 51355374 | ||||||
| chr1:51355554 | G | GT | 2 | a0001c0002t0020 a0002c0001t0008 |
5 | HG00738.hp1 HG01516.hp1 HG01517.hp1 others(2): Show |
3_prime_UTR_variant | MODIFIER | c.*1145dupA | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 25/25 | 1145 | chr1 | 51355554 | ||||||
| chr1:51355601 | G | T | 1 | a0002c0001t0023 | 1 | HG02258.hp2 | 3_prime_UTR_variant | MODIFIER | c.*1099C>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 25/25 | 1099 | chr1 | 51355601 | ||||||
| chr1:51355605 | ATAAAC | A | 2 | a0002c0001t0023 a0002c0001t0024 |
2 | HG01175.hp1 HG02258.hp2 |
3_prime_UTR_variant | MODIFIER | c.*1090_*1094delGTTT others(1): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 25/25 | 1090 | chr1 | 51355605 | ||||||
| chr1:51355713 | T | TA | 10 | a0002c0001t0005 a0002c0001t0010 a0002c0001t0014 others(7): Show |
22 | HG01109.hp1 HG01109.hp2 HG01175.hp1 others(19): Show |
3_prime_UTR_variant | MODIFIER | c.*986dupT | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 25/25 | 986 | chr1 | 51355713 | ||||||
| chr1:51355811 | G | C | 1 | a0005c0011t0025 | 1 | HG02257.hp2 | 3_prime_UTR_variant | MODIFIER | c.*889C>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 25/25 | 889 | chr1 | 51355811 | ||||||
| chr1:51355883 | A | C | 1 | a0001c0002t0019 | 1 | HG00558.hp2 | 3_prime_UTR_variant | MODIFIER | c.*817T>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 25/25 | 817 | chr1 | 51355883 | ||||||
| chr1:51355948 | A | G | 1 | a0001c0002t0018 | 1 | NA18957.hp2 | 3_prime_UTR_variant | MODIFIER | c.*752T>C | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 25/25 | 752 | chr1 | 51355948 | ||||||
| chr1:51356094 | G | A | 1 | a0004c0010t0026 | 1 | HG01109.hp2 | 3_prime_UTR_variant | MODIFIER | c.*606C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 25/25 | 606 | chr1 | 51356094 | ||||||
| chr1:51356201 | A | G | 1 | a0001c0002t0017 | 1 | HG02717.hp1 | 3_prime_UTR_variant | MODIFIER | c.*499T>C | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 25/25 | 499 | chr1 | 51356201 | ||||||
| chr1:51356458 | A | C | 2 | a0001c0002t0003 a0001c0003t0003 |
13 | HG02055.hp1 HG02145.hp2 HG02451.hp1 others(10): Show |
3_prime_UTR_variant | MODIFIER | c.*242T>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 25/25 | 242 | chr1 | 51356458 | ||||||
| chr1:51356516 | GA | G | 6 | a0002c0001t0007 a0002c0001t0011 a0004c0010t0026 others(3): Show |
10 | HG00642.hp1 HG01109.hp2 HG01257.hp2 others(7): Show |
3_prime_UTR_variant | MODIFIER | c.*183delT | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 25/25 | 183 | chr1 | 51356516 | ||||||
| chr1:51356547 | G | GA | 3 | a0002c0001t0011 a0004c0010t0026 a0010c0015t0011 |
5 | HG01109.hp2 HG02559.hp2 HG03195.hp1 others(2): Show |
3_prime_UTR_variant | MODIFIER | c.*152dupT | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 25/25 | 152 | chr1 | 51356547 | ||||||
| chr1:51356547 | GA | G | 4 | a0002c0001t0006 a0002c0001t0012 a0002c0001t0016 others(1): Show |
9 | HG02257.hp1 HG02572.hp1 HG03041.hp1 others(6): Show |
3_prime_UTR_variant | MODIFIER | c.*152delT | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 25/25 | 152 | chr1 | 51356547 | ||||||
| chr1:51356689 | AAG | A | 1 | a0002c0001t0012 | 3 | HG02257.hp1 HG03139.hp2 NA19043.hp2 |
3_prime_UTR_variant | MODIFIER | c.*9_*10delCT | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 25/25 | 9 | chr1 | 51356689 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr1:51356874 | C | T | 1 | a0001c0002t0003g0084 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.2545-28G>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 24/24 | chr1 | 51356874 | |||||||
| chr1:51356973 | CT | C | 9 | a0002c0001t0006g0027 a0002c0001t0006g0029 a0002c0001t0006g0034 others(6): Show |
9 | HG02257.hp1 HG02572.hp1 HG03041.hp1 others(6): Show |
intron_variant | MODIFIER | c.2545-128delA | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 24/24 | chr1 | 51356973 | |||||||
| chr1:51357055 | T | C | 1 | a0002c0001t0012g0002 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.2545-209A>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 24/24 | chr1 | 51357055 | |||||||
| chr1:51357059 | T | A | 1 | a0001c0002t0003g0080 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.2545-213A>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 24/24 | chr1 | 51357059 | |||||||
| chr1:51357276 | G | C | 9 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(6): Show |
9 | HG00642.hp1 HG01109.hp2 HG01257.hp2 others(6): Show |
intron_variant | MODIFIER | c.2545-430C>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 24/24 | chr1 | 51357276 | |||||||
| chr1:51357325 | C | T | 1 | a0009c0009t0015g0125 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.2545-479G>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 24/24 | chr1 | 51357325 | |||||||
| chr1:51357326 | G | A | 1 | a0001c0002t0001g0103 | 1 | HG03491.hp2 | intron_variant | MODIFIER | c.2545-480C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 24/24 | chr1 | 51357326 | |||||||
| chr1:51357376 | G | GA | 8 | a0001c0002t0001g0051 a0001c0002t0001g0100 a0001c0002t0001g0110 others(5): Show |
8 | HG01175.hp2 HG01192.hp1 HG02109.hp1 others(5): Show |
intron_variant | MODIFIER | c.2545-531dupT | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 24/24 | chr1 | 51357376 | |||||||
| chr1:51357376 | G | GAAAAAAA others(4): Show |
1 | a0002c0001t0023g0150 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.2545-541_2545-531d others(13): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 24/24 | chr1 | 51357376 | |||||||
| chr1:51357376 | G | GAAAAAAA others(5): Show |
2 | a0002c0001t0005g0142 a0002c0001t0024g0141 |
2 | HG01175.hp1 HG02055.hp2 |
intron_variant | MODIFIER | c.2545-542_2545-531d others(14): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 24/24 | chr1 | 51357376 | |||||||
| chr1:51357376 | G | GAAAAAAA others(6): Show |
2 | a0002c0001t0005g0139 a0002c0001t0005g0148 |
2 | HG02486.hp1 NA20300.hp1 |
intron_variant | MODIFIER | c.2545-543_2545-531d others(15): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 24/24 | chr1 | 51357376 | |||||||
| chr1:51357385 | AAAAAAAA others(1): Show |
A | 5 | a0002c0004t0002g0004 a0002c0004t0002g0014 a0002c0004t0002g0015 others(2): Show |
5 | HG01346.hp1 HG02486.hp2 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.2545-547_2545-540d others(10): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 24/24 | chr1 | 51357385 | |||||||
| chr1:51357387 | AAAAAATA others(3): Show |
A | 2 | a0002c0004t0002g0006 a0002c0004t0002g0008 |
2 | HG02738.hp2 HG04199.hp1 |
intron_variant | MODIFIER | c.2545-551_2545-542d others(12): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 24/24 | chr1 | 51357387 | |||||||
| chr1:51357387 | AAAAAATA others(9): Show |
A | 5 | a0002c0001t0011g0130 a0002c0001t0011g0131 a0002c0001t0011g0132 others(2): Show |
5 | HG01109.hp2 HG02559.hp2 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.2545-557_2545-542d others(18): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 24/24 | chr1 | 51357387 | |||||||
| chr1:51357388 | AAAAATAT others(4): Show |
A | 2 | a0002c0001t0007g0135 a0008c0012t0007g0136 |
2 | HG01257.hp2 HG03130.hp1 |
intron_variant | MODIFIER | c.2545-553_2545-543d others(13): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 24/24 | chr1 | 51357388 | |||||||
| chr1:51357388 | AAAAATAT others(6): Show |
A | 2 | a0002c0001t0007g0133 a0002c0001t0007g0134 |
2 | HG00642.hp1 NA20129.hp2 |
intron_variant | MODIFIER | c.2545-555_2545-543d others(15): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 24/24 | chr1 | 51357388 | |||||||
| chr1:51357389 | A | T | 1 | a0002c0001t0009g0116 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.2545-543T>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 24/24 | chr1 | 51357389 | |||||||
| chr1:51357389 | AAAATATA others(13): Show |
A | 1 | a0006c0013t0001g0099 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.2545-563_2545-544d others(22): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 24/24 | chr1 | 51357389 | |||||||
| chr1:51357391 | A | AAAAAAAA others(9): Show |
1 | a0002c0001t0005g0147 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.2545-546_2545-545i others(18): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 24/24 | chr1 | 51357391 | |||||||
| chr1:51357391 | A | AAAAAAAA others(8): Show |
1 | a0005c0011t0025g0138 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.2545-546_2545-545i others(17): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 24/24 | chr1 | 51357391 | |||||||
| chr1:51357391 | A | AAAAAAAA others(10): Show |
1 | a0002c0001t0021g0143 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.2545-546_2545-545i others(19): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 24/24 | chr1 | 51357391 | |||||||
| chr1:51357391 | A | AAAAAAAA others(14): Show |
1 | a0002c0001t0005g0140 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.2545-546_2545-545i others(23): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 24/24 | chr1 | 51357391 | |||||||
| chr1:51357391 | A | AAAAAAAA others(9): Show |
1 | a0002c0001t0005g0151 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.2545-546_2545-545i others(18): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 24/24 | chr1 | 51357391 | |||||||
| chr1:51357391 | A | AAAAAAAA others(4): Show |
1 | a0002c0001t0005g0149 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.2545-546_2545-545i others(13): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 24/24 | chr1 | 51357391 | |||||||
| chr1:51357391 | A | AAAAAAAA others(9): Show |
1 | a0002c0001t0010g0041 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.2545-546_2545-545i others(18): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 24/24 | chr1 | 51357391 | |||||||
| chr1:51357391 | A | AAAAAAAT others(8): Show |
1 | a0002c0001t0010g0038 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.2545-546_2545-545i others(17): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 24/24 | chr1 | 51357391 | |||||||
| chr1:51357391 | A | AAATATAT others(10): Show |
2 | a0002c0001t0006g0027 a0002c0001t0006g0029 |
2 | HG02572.hp1 NA18522.hp2 |
intron_variant | MODIFIER | c.2545-546_2545-545i others(19): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 24/24 | chr1 | 51357391 | |||||||
| chr1:51357391 | A | AATATATA others(3): Show |
1 | a0001c0003t0001g0065 | 1 | HG00741.hp1 | intron_variant | MODIFIER | c.2545-555_2545-546d others(12): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 24/24 | chr1 | 51357391 | |||||||
| chr1:51357391 | A | AATATATA others(5): Show |
1 | a0002c0001t0016g0028 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.2545-557_2545-546d others(14): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 24/24 | chr1 | 51357391 | |||||||
| chr1:51357391 | A | ATATATAT others(10): Show |
1 | a0001c0003t0001g0053 | 1 | HG00642.hp2 | intron_variant | MODIFIER | c.2545-546_2545-545i others(19): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 24/24 | chr1 | 51357391 | |||||||
| chr1:51357391 | A | T | 17 | a0001c0002t0001g0127 a0001c0003t0001g0059 a0001c0003t0001g0062 others(14): Show |
17 | HG00438.hp1 HG00738.hp2 HG01074.hp1 others(14): Show |
intron_variant | MODIFIER | c.2545-545T>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 24/24 | chr1 | 51357391 | |||||||
| chr1:51357391 | AATATATA others(5): Show |
A | 1 | a0002c0004t0002g0010 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.2545-557_2545-546d others(14): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 24/24 | chr1 | 51357391 | |||||||
| chr1:51357392 | AT | A | 6 | a0001c0002t0001g0060 a0002c0001t0004g0019 a0002c0001t0004g0020 others(3): Show |
6 | HG00438.hp2 HG00733.hp2 HG01515.hp2 others(3): Show |
intron_variant | MODIFIER | c.2545-547delA | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 24/24 | chr1 | 51357392 | |||||||
| chr1:51357392 | ATATAT | A | 2 | a0002c0001t0009g0117 a0002c0001t0009g0118 |
2 | HG03491.hp1 HG03492.hp2 |
intron_variant | MODIFIER | c.2545-551_2545-547d others(7): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 24/24 | chr1 | 51357392 | |||||||
| chr1:51357392 | ATATATAT | A | 2 | a0001c0002t0002g0030 a0001c0002t0002g0031 |
2 | HG02630.hp2 NA19240.hp1 |
intron_variant | MODIFIER | c.2545-553_2545-547d others(9): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 24/24 | chr1 | 51357392 | |||||||
| chr1:51357392 | ATATATAT others(2): Show |
A | 4 | a0002c0001t0008g0120 a0002c0001t0008g0121 a0002c0001t0008g0122 others(1): Show |
4 | HG00738.hp1 HG01516.hp1 HG01517.hp1 others(1): Show |
intron_variant | MODIFIER | c.2545-555_2545-547d others(11): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 24/24 | chr1 | 51357392 | |||||||
| chr1:51357392 | ATATATAT others(4): Show |
A | 2 | a0002c0001t0006g0034 a0002c0001t0006g0035 |
2 | HG03098.hp1 NA18906.hp2 |
intron_variant | MODIFIER | c.2545-557_2545-547d others(13): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 24/24 | chr1 | 51357392 | |||||||
| chr1:51357393 | T | A | 44 | a0001c0002t0001g0026 a0001c0002t0001g0048 a0001c0002t0001g0051 others(41): Show |
44 | HG00558.hp1 HG00558.hp2 HG00639.hp1 others(41): Show |
intron_variant | MODIFIER | c.2545-547A>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 24/24 | chr1 | 51357393 | |||||||
| chr1:51357395 | T | A | 21 | a0001c0002t0001g0096 a0001c0002t0001g0105 a0001c0002t0003g0078 others(18): Show |
21 | HG00733.hp2 HG00735.hp1 HG01192.hp1 others(18): Show |
intron_variant | MODIFIER | c.2545-549A>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 24/24 | chr1 | 51357395 | |||||||
| chr1:51357397 | T | A | 13 | a0001c0002t0003g0084 a0001c0002t0003g0092 a0002c0001t0004g0018 others(10): Show |
13 | HG00733.hp2 HG00735.hp1 HG00735.hp2 others(10): Show |
intron_variant | MODIFIER | c.2545-551A>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 24/24 | chr1 | 51357397 | |||||||
| chr1:51357399 | T | A | 7 | a0002c0001t0004g0018 a0002c0001t0004g0019 a0002c0001t0004g0020 others(4): Show |
7 | HG00733.hp2 HG00735.hp1 HG01192.hp1 others(4): Show |
intron_variant | MODIFIER | c.2545-553A>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 24/24 | chr1 | 51357399 | |||||||
| chr1:51357401 | T | A | 6 | a0001c0002t0002g0030 a0001c0002t0002g0031 a0001c0002t0017g0033 others(3): Show |
6 | HG00735.hp1 HG01192.hp1 HG02630.hp2 others(3): Show |
intron_variant | MODIFIER | c.2545-555A>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 24/24 | chr1 | 51357401 | |||||||
| chr1:51357403 | T | A | 1 | a0002c0001t0008g0123 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.2545-557A>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 24/24 | chr1 | 51357403 | |||||||
| chr1:51357405 | T | A | 3 | a0002c0001t0006g0034 a0002c0001t0006g0035 a0002c0004t0002g0010 |
3 | HG02723.hp2 HG03098.hp1 NA18906.hp2 |
intron_variant | MODIFIER | c.2545-559A>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 24/24 | chr1 | 51357405 | |||||||
| chr1:51357407 | T | A | 1 | a0002c0004t0002g0010 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.2545-561A>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 24/24 | chr1 | 51357407 | |||||||
| chr1:51357409 | T | A | 1 | a0002c0004t0002g0010 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.2545-563A>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 24/24 | chr1 | 51357409 | |||||||
| chr1:51357411 | TATATATA others(8): Show |
T | 2 | a0002c0001t0012g0001 a0002c0001t0012g0003 |
2 | HG02257.hp1 HG03139.hp2 |
intron_variant | MODIFIER | c.2545-580_2545-566d others(17): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 24/24 | chr1 | 51357411 | |||||||
| chr1:51357421 | TATA | T | 3 | a0001c0002t0001g0126 a0001c0002t0001g0127 a0001c0002t0001g0128 |
3 | HG00438.hp1 NA18747.hp1 NA19011.hp2 |
intron_variant | MODIFIER | c.2545-578_2545-576d others(5): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 24/24 | chr1 | 51357421 | |||||||
| chr1:51357423 | TA | T | 12 | a0001c0002t0001g0082 a0001c0002t0013g0089 a0001c0002t0013g0102 others(9): Show |
12 | HG00741.hp2 HG01168.hp1 HG01175.hp1 others(9): Show |
intron_variant | MODIFIER | c.2545-578delT | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 24/24 | chr1 | 51357423 | |||||||
| chr1:51357425 | TA | T | 21 | a0001c0002t0001g0048 a0001c0002t0001g0075 a0001c0002t0001g0079 others(18): Show |
21 | HG00558.hp2 HG00639.hp1 HG00733.hp2 others(18): Show |
intron_variant | MODIFIER | c.2545-580delT | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 24/24 | chr1 | 51357425 | |||||||
| chr1:51357426 | A | AT | 6 | a0001c0002t0001g0088 a0001c0002t0001g0113 a0001c0002t0003g0078 others(3): Show |
6 | HG02451.hp1 HG02559.hp1 NA18747.hp2 others(3): Show |
intron_variant | MODIFIER | c.2545-581dupA | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 24/24 | chr1 | 51357426 | |||||||
| chr1:51357426 | A | ATATATAT others(13): Show |
1 | a0001c0003t0001g0058 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.2545-581_2545-580i others(22): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 24/24 | chr1 | 51357426 | |||||||
| chr1:51357426 | A | ATATATAT others(4): Show |
1 | a0002c0001t0010g0039 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.2545-581_2545-580i others(13): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 24/24 | chr1 | 51357426 | |||||||
| chr1:51357426 | A | T | 38 | a0001c0002t0001g0026 a0001c0002t0001g0046 a0001c0002t0001g0082 others(35): Show |
38 | HG00438.hp1 HG00639.hp2 HG00735.hp2 others(35): Show |
intron_variant | MODIFIER | c.2545-580T>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 24/24 | chr1 | 51357426 | |||||||
| chr1:51357426 | AT | A | 18 | a0001c0002t0001g0045 a0001c0002t0001g0051 a0001c0002t0001g0060 others(15): Show |
18 | HG00438.hp2 HG00733.hp1 HG00735.hp1 others(15): Show |
intron_variant | MODIFIER | c.2545-581delA | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 24/24 | chr1 | 51357426 | |||||||
| chr1:51357427 | T | TA | 2 | a0001c0002t0001g0077 a0001c0003t0001g0053 |
2 | HG00558.hp1 HG00642.hp2 |
intron_variant | MODIFIER | c.2545-582_2545-581i others(3): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 24/24 | chr1 | 51357427 | |||||||
| chr1:51357427 | T | TATA | 2 | a0001c0002t0003g0072 a0001c0002t0003g0087 |
2 | HG02647.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.2545-582_2545-581i others(5): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 24/24 | chr1 | 51357427 | |||||||
| chr1:51357428 | T | A | 23 | a0001c0003t0001g0061 a0001c0003t0001g0063 a0001c0003t0001g0065 others(20): Show |
23 | HG00741.hp1 HG01074.hp1 HG01074.hp2 others(20): Show |
intron_variant | MODIFIER | c.2545-582A>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 24/24 | chr1 | 51357428 | |||||||
| chr1:51357429 | T | A | 3 | a0001c0002t0001g0045 a0001c0002t0001g0051 a0001c0003t0001g0053 |
3 | HG00642.hp2 HG02572.hp2 HG03688.hp2 |
intron_variant | MODIFIER | c.2545-583A>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 24/24 | chr1 | 51357429 | |||||||
| chr1:51357430 | T | A | 5 | a0001c0003t0001g0069 a0001c0003t0001g0093 a0002c0001t0006g0027 others(2): Show |
5 | HG02572.hp1 HG03834.hp1 HG04204.hp2 others(2): Show |
intron_variant | MODIFIER | c.2545-584A>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 24/24 | chr1 | 51357430 | |||||||
| chr1:51357439 | A | T | 16 | a0002c0001t0005g0139 a0002c0001t0005g0140 a0002c0001t0005g0142 others(13): Show |
16 | HG01109.hp1 HG01175.hp1 HG01884.hp2 others(13): Show |
intron_variant | MODIFIER | c.2545-593T>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 24/24 | chr1 | 51357439 | |||||||
| chr1:51357445 | G | GAT | 6 | a0001c0002t0001g0096 a0002c0001t0009g0116 a0002c0001t0009g0117 others(3): Show |
6 | HG00735.hp2 HG03491.hp1 HG03492.hp2 others(3): Show |
intron_variant | MODIFIER | c.2545-601_2545-600d others(4): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 24/24 | chr1 | 51357445 | |||||||
| chr1:51357445 | GAT | G | 53 | a0001c0002t0002g0030 a0001c0002t0002g0031 a0001c0002t0003g0085 others(50): Show |
53 | HG00642.hp1 HG00738.hp1 HG01109.hp1 others(50): Show |
intron_variant | MODIFIER | c.2545-601_2545-600d others(4): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 24/24 | chr1 | 51357445 | |||||||
| chr1:51357462 | A | C | 7 | a0002c0001t0004g0042 a0002c0001t0004g0043 a0002c0001t0004g0044 others(4): Show |
7 | HG02109.hp2 HG02630.hp1 HG02717.hp2 others(4): Show |
intron_variant | MODIFIER | c.2545-616T>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 24/24 | chr1 | 51357462 | |||||||
| chr1:51357659 | G | GA | 10 | a0001c0002t0001g0100 a0002c0001t0004g0018 a0002c0001t0004g0019 others(7): Show |
10 | HG00733.hp2 HG00735.hp1 HG01175.hp2 others(7): Show |
intron_variant | MODIFIER | c.2545-814dupT | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 24/24 | chr1 | 51357659 | |||||||
| chr1:51357740 | C | CT | 19 | a0001c0003t0001g0063 a0001c0003t0001g0067 a0001c0003t0001g0095 others(16): Show |
19 | HG00642.hp1 HG01167.hp1 HG01167.hp2 others(16): Show |
intron_variant | MODIFIER | c.2545-895dupA | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 24/24 | chr1 | 51357740 | |||||||
| chr1:51357740 | C | CTT | 5 | a0002c0001t0011g0130 a0002c0001t0011g0131 a0002c0001t0011g0132 others(2): Show |
5 | HG01109.hp2 HG02559.hp2 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.2545-896_2545-895d others(4): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 24/24 | chr1 | 51357740 | |||||||
| chr1:51357981 | C | T | 4 | a0001c0002t0001g0026 a0001c0002t0001g0046 a0001c0002t0001g0047 others(1): Show |
4 | HG00639.hp2 HG02647.hp1 HG02818.hp2 others(1): Show |
intron_variant | MODIFIER | c.2545-1135G>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 24/24 | chr1 | 51357981 | |||||||
| chr1:51358004 | C | T | 3 | a0002c0001t0009g0117 a0002c0001t0009g0118 a0002c0001t0009g0119 |
3 | HG00735.hp2 HG03491.hp1 HG03492.hp2 |
intron_variant | MODIFIER | c.2545-1158G>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 24/24 | chr1 | 51358004 | |||||||
| chr1:51358242 | G | T | 1 | a0001c0003t0001g0111 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.2545-1396C>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 24/24 | chr1 | 51358242 | |||||||
| chr1:51358433 | A | G | 3 | a0002c0001t0005g0139 a0002c0001t0005g0148 a0005c0011t0025g0138 |
3 | HG02257.hp2 HG02486.hp1 NA20300.hp1 |
intron_variant | MODIFIER | c.2545-1587T>C | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 24/24 | chr1 | 51358433 | |||||||
| chr1:51358485 | G | T | 4 | a0001c0002t0002g0030 a0001c0002t0002g0031 a0001c0002t0017g0033 others(1): Show |
4 | HG02630.hp2 HG02717.hp1 HG02976.hp1 others(1): Show |
intron_variant | MODIFIER | c.2545-1639C>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 24/24 | chr1 | 51358485 | |||||||
| chr1:51358699 | G | GTTTTTTT others(4): Show |
1 | a0002c0001t0011g0130 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.2545-1854_2545-185 others(15): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 24/24 | chr1 | 51358699 | |||||||
| chr1:51358704 | T | G | 1 | a0001c0002t0018g0083 | 1 | NA18957.hp2 | intron_variant | MODIFIER | c.2545-1858A>C | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 24/24 | chr1 | 51358704 | |||||||
| chr1:51358709 | G | GT | 13 | a0001c0002t0001g0052 a0001c0002t0002g0030 a0001c0002t0002g0031 others(10): Show |
13 | HG00741.hp1 HG01175.hp1 HG01952.hp1 others(10): Show |
intron_variant | MODIFIER | c.2545-1864dupA | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 24/24 | chr1 | 51358709 | |||||||
| chr1:51358709 | G | GTT | 8 | a0002c0001t0004g0018 a0002c0001t0004g0019 a0002c0001t0004g0020 others(5): Show |
8 | HG00733.hp2 HG00735.hp1 HG01192.hp1 others(5): Show |
intron_variant | MODIFIER | c.2545-1865_2545-186 others(6): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 24/24 | chr1 | 51358709 | |||||||
| chr1:51358709 | G | T | 6 | a0002c0001t0011g0130 a0002c0001t0011g0131 a0002c0001t0011g0132 others(3): Show |
6 | HG01109.hp2 HG02559.hp2 HG02723.hp2 others(3): Show |
intron_variant | MODIFIER | c.2545-1863C>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 24/24 | chr1 | 51358709 | |||||||
| chr1:51358711 | T | C | 1 | a0001c0002t0001g0097 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.2545-1865A>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 24/24 | chr1 | 51358711 | |||||||
| chr1:51358727 | G | T | 1 | a0001c0003t0001g0094 | 1 | HG00733.hp1 | intron_variant | MODIFIER | c.2545-1881C>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 24/24 | chr1 | 51358727 | |||||||
| chr1:51358802 | G | A | 5 | a0002c0001t0011g0130 a0002c0001t0011g0131 a0002c0001t0011g0132 others(2): Show |
5 | HG01109.hp2 HG02559.hp2 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.2545-1956C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 24/24 | chr1 | 51358802 | |||||||
| chr1:51358992 | C | A | 1 | a0002c0004t0002g0007 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.2545-2146G>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 24/24 | chr1 | 51358992 | |||||||
| chr1:51359443 | T | TAAA | 5 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(2): Show |
5 | HG00642.hp1 HG01109.hp2 HG01257.hp2 others(2): Show |
intron_variant | MODIFIER | c.2544+1725_2544+172 others(7): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 24/24 | chr1 | 51359443 | |||||||
| chr1:51359623 | G | A | 5 | a0002c0001t0009g0116 a0002c0001t0009g0117 a0002c0001t0009g0118 others(2): Show |
5 | HG00735.hp2 HG03491.hp1 HG03492.hp2 others(2): Show |
intron_variant | MODIFIER | c.2544+1548C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 24/24 | chr1 | 51359623 | |||||||
| chr1:51359626 | G | A | 1 | a0001c0002t0017g0033 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.2544+1545C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 24/24 | chr1 | 51359626 | |||||||
| chr1:51359713 | G | T | 2 | a0002c0001t0023g0150 a0002c0001t0024g0141 |
2 | HG01175.hp1 HG02258.hp2 |
intron_variant | MODIFIER | c.2544+1458C>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 24/24 | chr1 | 51359713 | |||||||
| chr1:51359714 | C | T | 20 | a0001c0003t0001g0061 a0001c0003t0001g0062 a0001c0003t0001g0063 others(17): Show |
20 | HG00733.hp1 HG00738.hp2 HG00741.hp1 others(17): Show |
intron_variant | MODIFIER | c.2544+1457G>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 24/24 | chr1 | 51359714 | |||||||
| chr1:51359750 | C | CA | 5 | a0001c0002t0001g0127 a0002c0001t0012g0001 a0002c0001t0012g0002 others(2): Show |
5 | HG00438.hp1 HG02257.hp1 HG03139.hp2 others(2): Show |
intron_variant | MODIFIER | c.2544+1420dupT | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 24/24 | chr1 | 51359750 | |||||||
| chr1:51359783 | C | T | 3 | a0002c0001t0006g0027 a0002c0001t0006g0029 a0002c0001t0016g0028 |
3 | HG02572.hp1 HG03041.hp1 NA18522.hp2 |
intron_variant | MODIFIER | c.2544+1388G>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 24/24 | chr1 | 51359783 | |||||||
| chr1:51360265 | G | A | 3 | a0002c0001t0006g0027 a0002c0001t0006g0029 a0002c0001t0016g0028 |
3 | HG02572.hp1 HG03041.hp1 NA18522.hp2 |
intron_variant | MODIFIER | c.2544+906C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 24/24 | chr1 | 51360265 | |||||||
| chr1:51360283 | T | C | 4 | a0002c0001t0008g0120 a0002c0001t0008g0121 a0002c0001t0008g0122 others(1): Show |
4 | HG00738.hp1 HG01516.hp1 HG01517.hp1 others(1): Show |
intron_variant | MODIFIER | c.2544+888A>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 24/24 | chr1 | 51360283 | |||||||
| chr1:51360371 | T | A | 23 | a0002c0001t0006g0027 a0002c0001t0006g0029 a0002c0001t0006g0034 others(20): Show |
23 | HG01167.hp2 HG01346.hp1 HG01891.hp1 others(20): Show |
intron_variant | MODIFIER | c.2544+800A>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 24/24 | chr1 | 51360371 | |||||||
| chr1:51360497 | T | A | 2 | a0002c0001t0014g0036 a0002c0001t0014g0037 |
2 | HG02451.hp2 HG02976.hp2 |
intron_variant | MODIFIER | c.2544+674A>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 24/24 | chr1 | 51360497 | |||||||
| chr1:51360499 | T | A | 2 | a0002c0001t0014g0036 a0002c0001t0014g0037 |
2 | HG02451.hp2 HG02976.hp2 |
intron_variant | MODIFIER | c.2544+672A>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 24/24 | chr1 | 51360499 | |||||||
| chr1:51360505 | A | C | 8 | a0002c0001t0004g0018 a0002c0001t0004g0019 a0002c0001t0004g0020 others(5): Show |
8 | HG00733.hp2 HG00735.hp1 HG01192.hp1 others(5): Show |
intron_variant | MODIFIER | c.2544+666T>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 24/24 | chr1 | 51360505 | |||||||
| chr1:51360506 | C | T | 2 | a0002c0001t0014g0036 a0002c0001t0014g0037 |
2 | HG02451.hp2 HG02976.hp2 |
intron_variant | MODIFIER | c.2544+665G>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 24/24 | chr1 | 51360506 | |||||||
| chr1:51360538 | C | T | 4 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(1): Show |
4 | HG00642.hp1 HG01257.hp2 HG03130.hp1 others(1): Show |
intron_variant | MODIFIER | c.2544+633G>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 24/24 | chr1 | 51360538 | |||||||
| chr1:51360570 | G | A | 74 | a0001c0002t0002g0030 a0001c0002t0002g0031 a0001c0002t0017g0033 others(71): Show |
74 | HG00642.hp1 HG00733.hp2 HG00735.hp1 others(71): Show |
intron_variant | MODIFIER | c.2544+601C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 24/24 | chr1 | 51360570 | |||||||
| chr1:51360712 | C | CATAT | 9 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(6): Show |
9 | HG00642.hp1 HG01109.hp2 HG01257.hp2 others(6): Show |
intron_variant | MODIFIER | c.2544+455_2544+458d others(6): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 24/24 | chr1 | 51360712 | |||||||
| chr1:51360759 | CACAA | C | 2 | a0002c0001t0012g0001 a0002c0001t0012g0003 |
2 | HG02257.hp1 HG03139.hp2 |
intron_variant | MODIFIER | c.2544+408_2544+411d others(6): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 24/24 | chr1 | 51360759 | |||||||
| chr1:51360947 | G | C | 3 | a0002c0001t0006g0027 a0002c0001t0006g0029 a0002c0001t0016g0028 |
3 | HG02572.hp1 HG03041.hp1 NA18522.hp2 |
intron_variant | MODIFIER | c.2544+224C>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 24/24 | chr1 | 51360947 | |||||||
| chr1:51361070 | G | C | 12 | a0002c0004t0002g0004 a0002c0004t0002g0005 a0002c0004t0002g0006 others(9): Show |
12 | HG01167.hp2 HG01346.hp1 HG01891.hp1 others(9): Show |
intron_variant | MODIFIER | c.2544+101C>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 24/24 | chr1 | 51361070 | |||||||
| chr1:51361551 | T | C | 12 | a0001c0003t0001g0064 a0001c0003t0001g0065 a0001c0003t0001g0066 others(9): Show |
12 | HG00738.hp2 HG00741.hp1 HG01074.hp2 others(9): Show |
intron_variant | MODIFIER | c.2360-196A>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 23/24 | chr1 | 51361551 | |||||||
| chr1:51361554 | C | T | 1 | a0009c0009t0015g0125 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.2360-199G>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 23/24 | chr1 | 51361554 | |||||||
| chr1:51361733 | C | A | 1 | a0002c0004t0002g0011 | 1 | HG01167.hp2 | intron_variant | MODIFIER | c.2360-378G>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 23/24 | chr1 | 51361733 | |||||||
| chr1:51361992 | A | T | 1 | a0006c0013t0001g0099 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.2360-637T>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 23/24 | chr1 | 51361992 | |||||||
| chr1:51362082 | G | GAAAAGAT others(322): Show |
1 | a0001c0003t0001g0061 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.2360-728_2360-727i others(331): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 23/24 | chr1 | 51362082 | |||||||
| chr1:51362285 | A | T | 1 | a0001c0002t0001g0096 | 1 | HG03654.hp2 | intron_variant | MODIFIER | c.2360-930T>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 23/24 | chr1 | 51362285 | |||||||
| chr1:51362307 | A | C | 3 | a0002c0001t0009g0117 a0002c0001t0009g0118 a0002c0001t0009g0119 |
3 | HG00735.hp2 HG03491.hp1 HG03492.hp2 |
intron_variant | MODIFIER | c.2360-952T>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 23/24 | chr1 | 51362307 | |||||||
| chr1:51362331 | T | A | 4 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(1): Show |
4 | HG00642.hp1 HG01257.hp2 HG03130.hp1 others(1): Show |
intron_variant | MODIFIER | c.2360-976A>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 23/24 | chr1 | 51362331 | |||||||
| chr1:51362456 | A | G | 9 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(6): Show |
9 | HG00642.hp1 HG01109.hp2 HG01257.hp2 others(6): Show |
intron_variant | MODIFIER | c.2360-1101T>C | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 23/24 | chr1 | 51362456 | |||||||
| chr1:51362534 | G | A | 1 | a0009c0009t0015g0125 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.2360-1179C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 23/24 | chr1 | 51362534 | |||||||
| chr1:51362565 | T | C | 1 | a0009c0009t0015g0125 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.2360-1210A>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 23/24 | chr1 | 51362565 | |||||||
| chr1:51362652 | A | C | 9 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(6): Show |
9 | HG00642.hp1 HG01109.hp2 HG01257.hp2 others(6): Show |
intron_variant | MODIFIER | c.2359+1214T>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 23/24 | chr1 | 51362652 | |||||||
| chr1:51362662 | G | A | 1 | a0001c0003t0001g0059 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.2359+1204C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 23/24 | chr1 | 51362662 | |||||||
| chr1:51362813 | A | T | 1 | a0007c0008t0002g0032 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.2359+1053T>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 23/24 | chr1 | 51362813 | |||||||
| chr1:51362826 | G | T | 9 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(6): Show |
9 | HG00642.hp1 HG01109.hp2 HG01257.hp2 others(6): Show |
intron_variant | MODIFIER | c.2359+1040C>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 23/24 | chr1 | 51362826 | |||||||
| chr1:51362827 | T | C | 9 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(6): Show |
9 | HG00642.hp1 HG01109.hp2 HG01257.hp2 others(6): Show |
intron_variant | MODIFIER | c.2359+1039A>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 23/24 | chr1 | 51362827 | |||||||
| chr1:51363133 | G | A | 2 | a0002c0001t0004g0042 a0002c0001t0004g0043 |
2 | HG02630.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.2359+733C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 23/24 | chr1 | 51363133 | |||||||
| chr1:51363253 | A | G | 9 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(6): Show |
9 | HG00642.hp1 HG01109.hp2 HG01257.hp2 others(6): Show |
intron_variant | MODIFIER | c.2359+613T>C | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 23/24 | chr1 | 51363253 | |||||||
| chr1:51363297 | C | CA | 19 | a0001c0002t0001g0103 a0001c0002t0003g0092 a0001c0003t0001g0093 others(16): Show |
19 | HG01109.hp2 HG01346.hp1 HG01891.hp1 others(16): Show |
intron_variant | MODIFIER | c.2359+568dupT | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 23/24 | chr1 | 51363297 | |||||||
| chr1:51363297 | C | CAA | 6 | a0002c0001t0008g0120 a0002c0001t0008g0121 a0002c0001t0008g0122 others(3): Show |
6 | HG00738.hp1 HG01516.hp1 HG01517.hp1 others(3): Show |
intron_variant | MODIFIER | c.2359+567_2359+568d others(4): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 23/24 | chr1 | 51363297 | |||||||
| chr1:51363297 | CA | C | 15 | a0001c0003t0001g0095 a0002c0001t0004g0018 a0002c0001t0004g0019 others(12): Show |
15 | HG00733.hp2 HG00735.hp1 HG01167.hp1 others(12): Show |
intron_variant | MODIFIER | c.2359+568delT | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 23/24 | chr1 | 51363297 | |||||||
| chr1:51363609 | T | G | 4 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(1): Show |
4 | HG00642.hp1 HG01257.hp2 HG03130.hp1 others(1): Show |
intron_variant | MODIFIER | c.2359+257A>C | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 23/24 | chr1 | 51363609 | |||||||
| chr1:51364073 | T | C | 1 | a0002c0004t0002g0005 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.2197-45A>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 22/24 | chr1 | 51364073 | |||||||
| chr1:51364151 | A | C | 5 | a0002c0001t0009g0116 a0002c0001t0009g0117 a0002c0001t0009g0118 others(2): Show |
5 | HG00735.hp2 HG03491.hp1 HG03492.hp2 others(2): Show |
intron_variant | MODIFIER | c.2197-123T>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 22/24 | chr1 | 51364151 | |||||||
| chr1:51364217 | G | A | 1 | a0002c0001t0010g0039 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.2197-189C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 22/24 | chr1 | 51364217 | |||||||
| chr1:51364230 | A | G | 1 | a0002c0001t0004g0044 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.2197-202T>C | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 22/24 | chr1 | 51364230 | |||||||
| chr1:51364500 | A | AT | 59 | a0001c0002t0002g0030 a0001c0002t0002g0031 a0001c0002t0017g0033 others(56): Show |
59 | HG00733.hp2 HG00735.hp1 HG00735.hp2 others(56): Show |
intron_variant | MODIFIER | c.2197-473dupA | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 22/24 | chr1 | 51364500 | |||||||
| chr1:51364500 | A | ATT | 5 | a0002c0001t0011g0130 a0002c0001t0011g0131 a0002c0001t0011g0132 others(2): Show |
5 | HG01109.hp2 HG02559.hp2 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.2197-474_2197-473d others(4): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 22/24 | chr1 | 51364500 | |||||||
| chr1:51364744 | C | T | 4 | a0001c0002t0002g0030 a0001c0002t0002g0031 a0001c0002t0017g0033 others(1): Show |
4 | HG02630.hp2 HG02717.hp1 HG02976.hp1 others(1): Show |
intron_variant | MODIFIER | c.2197-716G>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 22/24 | chr1 | 51364744 | |||||||
| chr1:51364842 | A | AT | 16 | a0002c0001t0005g0139 a0002c0001t0005g0140 a0002c0001t0005g0142 others(13): Show |
16 | HG01109.hp1 HG01175.hp1 HG01884.hp2 others(13): Show |
intron_variant | MODIFIER | c.2197-815dupA | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 22/24 | chr1 | 51364842 | |||||||
| chr1:51365008 | T | C | 1 | a0001c0002t0003g0073 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.2196+945A>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 22/24 | chr1 | 51365008 | |||||||
| chr1:51365121 | C | T | 7 | a0002c0001t0004g0042 a0002c0001t0004g0043 a0002c0001t0004g0044 others(4): Show |
7 | HG02109.hp2 HG02630.hp1 HG02717.hp2 others(4): Show |
intron_variant | MODIFIER | c.2196+832G>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 22/24 | chr1 | 51365121 | |||||||
| chr1:51365158 | G | C | 3 | a0002c0001t0009g0117 a0002c0001t0009g0118 a0002c0001t0009g0119 |
3 | HG00735.hp2 HG03491.hp1 HG03492.hp2 |
intron_variant | MODIFIER | c.2196+795C>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 22/24 | chr1 | 51365158 | |||||||
| chr1:51365244 | A | G | 4 | a0002c0001t0008g0120 a0002c0001t0008g0121 a0002c0001t0008g0122 others(1): Show |
4 | HG00738.hp1 HG01516.hp1 HG01517.hp1 others(1): Show |
intron_variant | MODIFIER | c.2196+709T>C | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 22/24 | chr1 | 51365244 | |||||||
| chr1:51365267 | G | A | 4 | a0002c0001t0008g0120 a0002c0001t0008g0121 a0002c0001t0008g0122 others(1): Show |
4 | HG00738.hp1 HG01516.hp1 HG01517.hp1 others(1): Show |
intron_variant | MODIFIER | c.2196+686C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 22/24 | chr1 | 51365267 | |||||||
| chr1:51365283 | G | C | 2 | a0002c0001t0009g0117 a0002c0001t0009g0118 |
2 | HG03491.hp1 HG03492.hp2 |
intron_variant | MODIFIER | c.2196+670C>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 22/24 | chr1 | 51365283 | |||||||
| chr1:51365478 | A | G | 3 | a0002c0001t0005g0139 a0002c0001t0005g0148 a0005c0011t0025g0138 |
3 | HG02257.hp2 HG02486.hp1 NA20300.hp1 |
intron_variant | MODIFIER | c.2196+475T>C | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 22/24 | chr1 | 51365478 | |||||||
| chr1:51365499 | G | A | 9 | a0002c0001t0006g0027 a0002c0001t0006g0029 a0002c0001t0006g0034 others(6): Show |
9 | HG02257.hp1 HG02572.hp1 HG03041.hp1 others(6): Show |
intron_variant | MODIFIER | c.2196+454C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 22/24 | chr1 | 51365499 | |||||||
| chr1:51365600 | C | T | 5 | a0002c0001t0004g0044 a0002c0001t0010g0038 a0002c0001t0010g0039 others(2): Show |
5 | HG02109.hp2 HG02717.hp2 HG02818.hp1 others(2): Show |
intron_variant | MODIFIER | c.2196+353G>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 22/24 | chr1 | 51365600 | |||||||
| chr1:51365611 | C | A | 8 | a0002c0001t0004g0018 a0002c0001t0004g0019 a0002c0001t0004g0020 others(5): Show |
8 | HG00733.hp2 HG00735.hp1 HG01192.hp1 others(5): Show |
intron_variant | MODIFIER | c.2196+342G>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 22/24 | chr1 | 51365611 | |||||||
| chr1:51365648 | G | C | 1 | a0002c0004t0002g0005 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.2196+305C>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 22/24 | chr1 | 51365648 | |||||||
| chr1:51365791 | TTAAC | T | 5 | a0002c0001t0009g0116 a0002c0001t0009g0117 a0002c0001t0009g0118 others(2): Show |
5 | HG00735.hp2 HG03491.hp1 HG03492.hp2 others(2): Show |
intron_variant | MODIFIER | c.2196+158_2196+161d others(6): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 22/24 | chr1 | 51365791 | |||||||
| chr1:51365798 | T | C | 1 | a0001c0002t0003g0092 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.2196+155A>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 22/24 | chr1 | 51365798 | |||||||
| chr1:51365898 | T | C | 9 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(6): Show |
9 | HG00642.hp1 HG01109.hp2 HG01257.hp2 others(6): Show |
intron_variant | MODIFIER | c.2196+55A>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 22/24 | chr1 | 51365898 | |||||||
| chr1:51366063 | C | T | 5 | a0002c0001t0011g0130 a0002c0001t0011g0131 a0002c0001t0011g0132 others(2): Show |
5 | HG01109.hp2 HG02559.hp2 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.2120-34G>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51366063 | |||||||
| chr1:51366089 | C | CA | 5 | a0002c0001t0011g0130 a0002c0001t0011g0131 a0002c0001t0011g0132 others(2): Show |
5 | HG01109.hp2 HG02559.hp2 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.2120-61dupT | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51366089 | |||||||
| chr1:51366340 | T | C | 1 | a0002c0001t0023g0150 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.2120-311A>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51366340 | |||||||
| chr1:51366466 | A | C | 3 | a0002c0001t0009g0117 a0002c0001t0009g0118 a0002c0001t0009g0119 |
3 | HG00735.hp2 HG03491.hp1 HG03492.hp2 |
intron_variant | MODIFIER | c.2120-437T>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51366466 | |||||||
| chr1:51366816 | A | AT | 14 | a0002c0004t0002g0004 a0002c0004t0002g0005 a0002c0004t0002g0006 others(11): Show |
14 | HG01167.hp2 HG01346.hp1 HG01891.hp1 others(11): Show |
intron_variant | MODIFIER | c.2120-788dupA | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51366816 | |||||||
| chr1:51366833 | G | A | 1 | a0002c0001t0004g0044 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.2120-804C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51366833 | |||||||
| chr1:51366965 | T | A | 1 | a0002c0004t0002g0137 | 1 | HG03654.hp1 | intron_variant | MODIFIER | c.2120-936A>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51366965 | |||||||
| chr1:51367030 | A | T | 9 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(6): Show |
9 | HG00642.hp1 HG01109.hp2 HG01257.hp2 others(6): Show |
intron_variant | MODIFIER | c.2120-1001T>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51367030 | |||||||
| chr1:51367122 | T | C | 1 | a0002c0001t0004g0044 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.2120-1093A>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51367122 | |||||||
| chr1:51367270 | G | C | 2 | a0001c0002t0002g0030 a0001c0002t0002g0031 |
2 | HG02630.hp2 NA19240.hp1 |
intron_variant | MODIFIER | c.2120-1241C>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51367270 | |||||||
| chr1:51367271 | G | A | 9 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(6): Show |
9 | HG00642.hp1 HG01109.hp2 HG01257.hp2 others(6): Show |
intron_variant | MODIFIER | c.2120-1242C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51367271 | |||||||
| chr1:51367448 | G | A | 2 | a0002c0001t0004g0042 a0002c0001t0004g0043 |
2 | HG02630.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.2120-1419C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51367448 | |||||||
| chr1:51367551 | CAACA | C | 5 | a0002c0001t0011g0130 a0002c0001t0011g0131 a0002c0001t0011g0132 others(2): Show |
5 | HG01109.hp2 HG02559.hp2 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.2120-1526_2120-152 others(8): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51367551 | |||||||
| chr1:51367843 | C | A | 5 | a0002c0001t0011g0130 a0002c0001t0011g0131 a0002c0001t0011g0132 others(2): Show |
5 | HG01109.hp2 HG02559.hp2 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.2120-1814G>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51367843 | |||||||
| chr1:51367882 | G | A | 9 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(6): Show |
9 | HG00642.hp1 HG01109.hp2 HG01257.hp2 others(6): Show |
intron_variant | MODIFIER | c.2120-1853C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51367882 | |||||||
| chr1:51367890 | G | T | 1 | a0001c0002t0003g0085 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.2120-1861C>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51367890 | |||||||
| chr1:51367949 | C | T | 1 | a0001c0002t0001g0075 | 1 | NA19011.hp1 | intron_variant | MODIFIER | c.2120-1920G>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51367949 | |||||||
| chr1:51367950 | G | A | 5 | a0002c0001t0009g0116 a0002c0001t0009g0117 a0002c0001t0009g0118 others(2): Show |
5 | HG00735.hp2 HG03491.hp1 HG03492.hp2 others(2): Show |
intron_variant | MODIFIER | c.2120-1921C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51367950 | |||||||
| chr1:51368375 | A | G | 5 | a0002c0001t0011g0130 a0002c0001t0011g0131 a0002c0001t0011g0132 others(2): Show |
5 | HG01109.hp2 HG02559.hp2 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.2120-2346T>C | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51368375 | |||||||
| chr1:51368484 | C | T | 1 | a0002c0001t0005g0140 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.2120-2455G>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51368484 | |||||||
| chr1:51368593 | TGTTTC | T | 9 | a0002c0001t0006g0027 a0002c0001t0006g0029 a0002c0001t0006g0034 others(6): Show |
9 | HG02257.hp1 HG02572.hp1 HG03041.hp1 others(6): Show |
intron_variant | MODIFIER | c.2120-2569_2120-256 others(9): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51368593 | |||||||
| chr1:51368598 | C | CT | 10 | a0001c0002t0001g0052 a0001c0003t0003g0054 a0002c0001t0005g0139 others(7): Show |
10 | HG01109.hp1 HG01884.hp2 HG01891.hp2 others(7): Show |
intron_variant | MODIFIER | c.2120-2570dupA | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51368598 | |||||||
| chr1:51368598 | CTT | C | 9 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(6): Show |
9 | HG00642.hp1 HG01109.hp2 HG01257.hp2 others(6): Show |
intron_variant | MODIFIER | c.2120-2571_2120-257 others(6): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51368598 | |||||||
| chr1:51368599 | T | C | 9 | a0002c0001t0006g0027 a0002c0001t0006g0029 a0002c0001t0006g0034 others(6): Show |
9 | HG02257.hp1 HG02572.hp1 HG03041.hp1 others(6): Show |
intron_variant | MODIFIER | c.2120-2570A>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51368599 | |||||||
| chr1:51368849 | G | A | 4 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(1): Show |
4 | HG00642.hp1 HG01257.hp2 HG03130.hp1 others(1): Show |
intron_variant | MODIFIER | c.2120-2820C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51368849 | |||||||
| chr1:51368954 | T | TC | 3 | a0002c0001t0012g0001 a0002c0001t0012g0002 a0002c0001t0012g0003 |
3 | HG02257.hp1 HG03139.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.2120-2926dupG | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51368954 | |||||||
| chr1:51369023 | C | CCTTTTCT others(4): Show |
8 | a0002c0001t0004g0018 a0002c0001t0004g0019 a0002c0001t0004g0020 others(5): Show |
8 | HG00733.hp2 HG00735.hp1 HG01192.hp1 others(5): Show |
intron_variant | MODIFIER | c.2120-3005_2120-299 others(15): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51369023 | |||||||
| chr1:51369096 | G | C | 1 | a0002c0004t0002g0137 | 1 | HG03654.hp1 | intron_variant | MODIFIER | c.2120-3067C>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51369096 | |||||||
| chr1:51369396 | T | C | 5 | a0002c0001t0011g0130 a0002c0001t0011g0131 a0002c0001t0011g0132 others(2): Show |
5 | HG01109.hp2 HG02559.hp2 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.2120-3367A>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51369396 | |||||||
| chr1:51369470 | C | G | 13 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(10): Show |
13 | HG00642.hp1 HG00738.hp1 HG01109.hp2 others(10): Show |
intron_variant | MODIFIER | c.2120-3441G>C | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51369470 | |||||||
| chr1:51369479 | T | C | 7 | a0002c0001t0005g0139 a0002c0001t0005g0140 a0002c0001t0005g0142 others(4): Show |
7 | HG01175.hp1 HG02055.hp2 HG02257.hp2 others(4): Show |
intron_variant | MODIFIER | c.2120-3450A>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51369479 | |||||||
| chr1:51369537 | T | C | 14 | a0002c0004t0002g0004 a0002c0004t0002g0005 a0002c0004t0002g0006 others(11): Show |
14 | HG01167.hp2 HG01346.hp1 HG01891.hp1 others(11): Show |
intron_variant | MODIFIER | c.2120-3508A>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51369537 | |||||||
| chr1:51369544 | A | C | 5 | a0002c0001t0006g0027 a0002c0001t0006g0029 a0002c0001t0006g0034 others(2): Show |
5 | HG02572.hp1 HG03041.hp1 HG03098.hp1 others(2): Show |
intron_variant | MODIFIER | c.2120-3515T>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51369544 | |||||||
| chr1:51369562 | A | G | 7 | a0002c0001t0004g0018 a0002c0001t0004g0019 a0002c0001t0004g0020 others(4): Show |
7 | HG00733.hp2 HG00735.hp1 HG01192.hp1 others(4): Show |
intron_variant | MODIFIER | c.2120-3533T>C | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51369562 | |||||||
| chr1:51369589 | C | T | 2 | a0002c0001t0014g0036 a0002c0001t0014g0037 |
2 | HG02451.hp2 HG02976.hp2 |
intron_variant | MODIFIER | c.2120-3560G>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51369589 | |||||||
| chr1:51369635 | G | T | 4 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(1): Show |
4 | HG00642.hp1 HG01257.hp2 HG03130.hp1 others(1): Show |
intron_variant | MODIFIER | c.2120-3606C>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51369635 | |||||||
| chr1:51369799 | C | A | 3 | a0002c0001t0006g0027 a0002c0001t0006g0029 a0002c0001t0016g0028 |
3 | HG02572.hp1 HG03041.hp1 NA18522.hp2 |
intron_variant | MODIFIER | c.2120-3770G>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51369799 | |||||||
| chr1:51369813 | A | G | 9 | a0002c0001t0006g0027 a0002c0001t0006g0029 a0002c0001t0006g0034 others(6): Show |
9 | HG02257.hp1 HG02572.hp1 HG03041.hp1 others(6): Show |
intron_variant | MODIFIER | c.2120-3784T>C | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51369813 | |||||||
| chr1:51369820 | C | T | 3 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 |
3 | HG00642.hp1 HG01257.hp2 NA20129.hp2 |
intron_variant | MODIFIER | c.2120-3791G>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51369820 | |||||||
| chr1:51370206 | GT | G | 3 | a0002c0001t0006g0027 a0002c0001t0006g0029 a0002c0001t0016g0028 |
3 | HG02572.hp1 HG03041.hp1 NA18522.hp2 |
intron_variant | MODIFIER | c.2120-4178delA | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51370206 | |||||||
| chr1:51370209 | T | C | 5 | a0002c0001t0011g0130 a0002c0001t0011g0131 a0002c0001t0011g0132 others(2): Show |
5 | HG01109.hp2 HG02559.hp2 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.2120-4180A>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51370209 | |||||||
| chr1:51370246 | C | T | 1 | a0001c0003t0001g0061 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.2120-4217G>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51370246 | |||||||
| chr1:51370449 | T | C | 1 | a0009c0009t0015g0125 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.2120-4420A>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51370449 | |||||||
| chr1:51370488 | C | T | 1 | a0001c0003t0001g0058 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.2120-4459G>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51370488 | |||||||
| chr1:51370624 | G | GT | 5 | a0001c0002t0001g0079 a0002c0001t0005g0145 a0002c0001t0005g0146 others(2): Show |
5 | HG00735.hp2 HG01109.hp1 HG02615.hp1 others(2): Show |
intron_variant | MODIFIER | c.2120-4596dupA | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51370624 | |||||||
| chr1:51370670 | G | A | 2 | a0001c0003t0001g0062 a0001c0003t0001g0091 |
2 | HG01074.hp1 HG01168.hp1 |
intron_variant | MODIFIER | c.2120-4641C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51370670 | |||||||
| chr1:51370678 | T | C | 1 | a0002c0001t0005g0139 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.2120-4649A>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51370678 | |||||||
| chr1:51370838 | C | T | 9 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(6): Show |
9 | HG00642.hp1 HG01109.hp2 HG01257.hp2 others(6): Show |
intron_variant | MODIFIER | c.2120-4809G>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51370838 | |||||||
| chr1:51370926 | G | T | 4 | a0002c0001t0011g0130 a0002c0001t0011g0131 a0002c0001t0011g0132 others(1): Show |
4 | HG02559.hp2 HG03195.hp1 HG03471.hp2 others(1): Show |
intron_variant | MODIFIER | c.2120-4897C>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51370926 | |||||||
| chr1:51370971 | G | T | 1 | a0002c0001t0007g0135 | 1 | HG01257.hp2 | intron_variant | MODIFIER | c.2120-4942C>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51370971 | |||||||
| chr1:51370974 | C | T | 5 | a0002c0001t0006g0027 a0002c0001t0006g0029 a0002c0001t0006g0034 others(2): Show |
5 | HG02572.hp1 HG03041.hp1 HG03098.hp1 others(2): Show |
intron_variant | MODIFIER | c.2120-4945G>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51370974 | |||||||
| chr1:51370975 | G | A | 1 | a0009c0009t0015g0125 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.2120-4946C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51370975 | |||||||
| chr1:51371039 | C | T | 2 | a0002c0001t0004g0042 a0002c0001t0004g0043 |
2 | HG02630.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.2120-5010G>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51371039 | |||||||
| chr1:51371040 | G | A | 1 | a0008c0012t0007g0136 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.2120-5011C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51371040 | |||||||
| chr1:51371170 | C | T | 8 | a0002c0001t0004g0018 a0002c0001t0004g0019 a0002c0001t0004g0020 others(5): Show |
8 | HG00733.hp2 HG00735.hp1 HG01192.hp1 others(5): Show |
intron_variant | MODIFIER | c.2120-5141G>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51371170 | |||||||
| chr1:51371243 | A | T | 70 | a0002c0001t0004g0018 a0002c0001t0004g0019 a0002c0001t0004g0020 others(67): Show |
70 | HG00642.hp1 HG00733.hp2 HG00735.hp1 others(67): Show |
intron_variant | MODIFIER | c.2120-5214T>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51371243 | |||||||
| chr1:51371296 | A | G | 4 | a0002c0001t0008g0120 a0002c0001t0008g0121 a0002c0001t0008g0122 others(1): Show |
4 | HG00738.hp1 HG01516.hp1 HG01517.hp1 others(1): Show |
intron_variant | MODIFIER | c.2120-5267T>C | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51371296 | |||||||
| chr1:51371399 | T | C | 2 | a0002c0001t0004g0018 a0002c0001t0004g0021 |
2 | HG00735.hp1 HG01192.hp1 |
intron_variant | MODIFIER | c.2120-5370A>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51371399 | |||||||
| chr1:51371511 | T | TA | 6 | a0001c0002t0017g0033 a0002c0001t0004g0044 a0002c0001t0010g0038 others(3): Show |
6 | HG02109.hp2 HG02717.hp1 HG02717.hp2 others(3): Show |
intron_variant | MODIFIER | c.2120-5483dupT | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51371511 | |||||||
| chr1:51371523 | G | GA | 5 | a0002c0001t0011g0130 a0002c0001t0011g0131 a0002c0001t0011g0132 others(2): Show |
5 | HG01109.hp2 HG02559.hp2 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.2120-5495dupT | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51371523 | |||||||
| chr1:51371523 | GA | G | 18 | a0001c0002t0001g0026 a0001c0002t0001g0051 a0001c0002t0001g0056 others(15): Show |
18 | HG00558.hp1 HG00558.hp2 HG00639.hp1 others(15): Show |
intron_variant | MODIFIER | c.2120-5495delT | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51371523 | |||||||
| chr1:51371638 | T | A | 9 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(6): Show |
9 | HG00642.hp1 HG01109.hp2 HG01257.hp2 others(6): Show |
intron_variant | MODIFIER | c.2120-5609A>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51371638 | |||||||
| chr1:51371751 | T | C | 1 | a0001c0002t0001g0128 | 1 | NA19011.hp2 | intron_variant | MODIFIER | c.2120-5722A>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51371751 | |||||||
| chr1:51371909 | T | C | 4 | a0002c0001t0008g0120 a0002c0001t0008g0121 a0002c0001t0008g0122 others(1): Show |
4 | HG00738.hp1 HG01516.hp1 HG01517.hp1 others(1): Show |
intron_variant | MODIFIER | c.2120-5880A>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51371909 | |||||||
| chr1:51371918 | A | G | 3 | a0002c0001t0009g0117 a0002c0001t0009g0118 a0002c0001t0009g0119 |
3 | HG00735.hp2 HG03491.hp1 HG03492.hp2 |
intron_variant | MODIFIER | c.2120-5889T>C | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51371918 | |||||||
| chr1:51371960 | A | T | 1 | a0002c0001t0022g0115 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.2120-5931T>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51371960 | |||||||
| chr1:51371979 | T | C | 7 | a0002c0001t0004g0042 a0002c0001t0004g0043 a0002c0001t0004g0044 others(4): Show |
7 | HG02109.hp2 HG02630.hp1 HG02717.hp2 others(4): Show |
intron_variant | MODIFIER | c.2120-5950A>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51371979 | |||||||
| chr1:51372025 | A | C | 9 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(6): Show |
9 | HG00642.hp1 HG01109.hp2 HG01257.hp2 others(6): Show |
intron_variant | MODIFIER | c.2120-5996T>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51372025 | |||||||
| chr1:51372065 | C | T | 76 | a0001c0002t0002g0030 a0001c0002t0002g0031 a0001c0002t0017g0033 others(73): Show |
76 | HG00642.hp1 HG00733.hp2 HG00735.hp1 others(73): Show |
intron_variant | MODIFIER | c.2120-6036G>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51372065 | |||||||
| chr1:51372385 | G | T | 1 | a0001c0002t0003g0092 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.2120-6356C>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51372385 | |||||||
| chr1:51372390 | T | C | 1 | a0001c0002t0001g0114 | 1 | HG04204.hp1 | intron_variant | MODIFIER | c.2120-6361A>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51372390 | |||||||
| chr1:51372660 | A | G | 1 | a0002c0001t0004g0044 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.2120-6631T>C | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51372660 | |||||||
| chr1:51372750 | G | C | 1 | a0002c0001t0004g0044 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.2120-6721C>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51372750 | |||||||
| chr1:51372834 | A | G | 1 | a0009c0009t0015g0125 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.2120-6805T>C | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51372834 | |||||||
| chr1:51373005 | G | A | 9 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(6): Show |
9 | HG00642.hp1 HG01109.hp2 HG01257.hp2 others(6): Show |
intron_variant | MODIFIER | c.2120-6976C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51373005 | |||||||
| chr1:51373047 | G | A | 8 | a0001c0002t0001g0096 a0001c0002t0001g0097 a0001c0002t0001g0098 others(5): Show |
8 | HG01175.hp2 HG01257.hp1 HG03491.hp2 others(5): Show |
intron_variant | MODIFIER | c.2120-7018C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51373047 | |||||||
| chr1:51373245 | AT | A | 5 | a0002c0001t0009g0116 a0002c0001t0009g0117 a0002c0001t0009g0118 others(2): Show |
5 | HG00735.hp2 HG03491.hp1 HG03492.hp2 others(2): Show |
intron_variant | MODIFIER | c.2120-7217delA | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51373245 | |||||||
| chr1:51373573 | C | T | 1 | a0001c0002t0001g0097 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.2120-7544G>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51373573 | |||||||
| chr1:51373785 | T | A | 8 | a0002c0001t0004g0018 a0002c0001t0004g0019 a0002c0001t0004g0020 others(5): Show |
8 | HG00733.hp2 HG00735.hp1 HG01192.hp1 others(5): Show |
intron_variant | MODIFIER | c.2120-7756A>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51373785 | |||||||
| chr1:51373786 | A | G | 2 | a0002c0001t0012g0001 a0002c0001t0012g0003 |
2 | HG02257.hp1 HG03139.hp2 |
intron_variant | MODIFIER | c.2120-7757T>C | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51373786 | |||||||
| chr1:51374219 | T | C | 1 | a0001c0003t0001g0093 | 1 | HG03834.hp1 | intron_variant | MODIFIER | c.2120-8190A>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51374219 | |||||||
| chr1:51374232 | G | C | 1 | a0001c0003t0001g0093 | 1 | HG03834.hp1 | intron_variant | MODIFIER | c.2120-8203C>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51374232 | |||||||
| chr1:51374465 | G | A | 5 | a0002c0001t0011g0130 a0002c0001t0011g0131 a0002c0001t0011g0132 others(2): Show |
5 | HG01109.hp2 HG02559.hp2 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.2120-8436C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51374465 | |||||||
| chr1:51374517 | T | C | 1 | a0001c0002t0001g0056 | 1 | HG04199.hp2 | intron_variant | MODIFIER | c.2120-8488A>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51374517 | |||||||
| chr1:51374561 | G | A | 1 | a0002c0001t0004g0020 | 1 | NA20805.hp1 | intron_variant | MODIFIER | c.2120-8532C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51374561 | |||||||
| chr1:51374562 | C | A | 1 | a0002c0001t0005g0142 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.2120-8533G>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51374562 | |||||||
| chr1:51374565 | T | C | 5 | a0002c0001t0004g0044 a0002c0001t0010g0038 a0002c0001t0010g0039 others(2): Show |
5 | HG02109.hp2 HG02717.hp2 HG02818.hp1 others(2): Show |
intron_variant | MODIFIER | c.2120-8536A>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51374565 | |||||||
| chr1:51374773 | T | C | 14 | a0002c0004t0002g0004 a0002c0004t0002g0005 a0002c0004t0002g0006 others(11): Show |
14 | HG01167.hp2 HG01346.hp1 HG01891.hp1 others(11): Show |
intron_variant | MODIFIER | c.2120-8744A>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51374773 | |||||||
| chr1:51374775 | G | A | 9 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(6): Show |
9 | HG00642.hp1 HG01109.hp2 HG01257.hp2 others(6): Show |
intron_variant | MODIFIER | c.2120-8746C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51374775 | |||||||
| chr1:51374782 | C | T | 4 | a0002c0001t0006g0034 a0002c0001t0006g0035 a0002c0001t0014g0036 others(1): Show |
4 | HG02451.hp2 HG02976.hp2 HG03098.hp1 others(1): Show |
intron_variant | MODIFIER | c.2120-8753G>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51374782 | |||||||
| chr1:51374788 | A | C | 1 | a0002c0001t0005g0139 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.2120-8759T>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51374788 | |||||||
| chr1:51374843 | A | T | 5 | a0002c0001t0009g0116 a0002c0001t0009g0117 a0002c0001t0009g0118 others(2): Show |
5 | HG00735.hp2 HG03491.hp1 HG03492.hp2 others(2): Show |
intron_variant | MODIFIER | c.2120-8814T>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51374843 | |||||||
| chr1:51374865 | A | C | 1 | a0002c0001t0008g0122 | 1 | NA20805.hp2 | intron_variant | MODIFIER | c.2120-8836T>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51374865 | |||||||
| chr1:51374996 | C | CT | 19 | a0001c0002t0001g0097 a0001c0002t0001g0100 a0001c0003t0001g0067 others(16): Show |
19 | HG00735.hp2 HG01175.hp2 HG01192.hp2 others(16): Show |
intron_variant | MODIFIER | c.2120-8968dupA | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51374996 | |||||||
| chr1:51374996 | CTTTTTTT others(3): Show |
C | 1 | a0001c0002t0003g0092 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.2120-8977_2120-896 others(14): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51374996 | |||||||
| chr1:51374996 | CTTTTTTT others(7): Show |
C | 5 | a0002c0001t0011g0130 a0002c0001t0011g0131 a0002c0001t0011g0132 others(2): Show |
5 | HG01109.hp2 HG02559.hp2 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.2120-8981_2120-896 others(18): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51374996 | |||||||
| chr1:51375005 | T | G | 1 | a0001c0002t0013g0102 | 1 | HG01952.hp1 | intron_variant | MODIFIER | c.2120-8976A>C | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51375005 | |||||||
| chr1:51375089 | C | A | 1 | a0001c0002t0003g0092 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.2120-9060G>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51375089 | |||||||
| chr1:51375096 | G | A | 1 | a0006c0013t0001g0099 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.2120-9067C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51375096 | |||||||
| chr1:51375163 | G | A | 2 | a0002c0001t0004g0042 a0002c0001t0004g0043 |
2 | HG02630.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.2120-9134C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51375163 | |||||||
| chr1:51375281 | G | A | 4 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(1): Show |
4 | HG00642.hp1 HG01257.hp2 HG03130.hp1 others(1): Show |
intron_variant | MODIFIER | c.2120-9252C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51375281 | |||||||
| chr1:51375290 | C | T | 9 | a0002c0001t0006g0027 a0002c0001t0006g0029 a0002c0001t0006g0034 others(6): Show |
9 | HG02257.hp1 HG02572.hp1 HG03041.hp1 others(6): Show |
intron_variant | MODIFIER | c.2120-9261G>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51375290 | |||||||
| chr1:51375495 | G | A | 1 | a0001c0003t0001g0067 | 1 | HG01192.hp2 | intron_variant | MODIFIER | c.2120-9466C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51375495 | |||||||
| chr1:51375656 | T | C | 4 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(1): Show |
4 | HG00642.hp1 HG01257.hp2 HG03130.hp1 others(1): Show |
intron_variant | MODIFIER | c.2120-9627A>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51375656 | |||||||
| chr1:51376088 | C | G | 1 | a0002c0004t0002g0004 | 1 | HG01346.hp1 | intron_variant | MODIFIER | c.2120-10059G>C | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51376088 | |||||||
| chr1:51376296 | T | C | 16 | a0002c0001t0005g0139 a0002c0001t0005g0140 a0002c0001t0005g0142 others(13): Show |
16 | HG01109.hp1 HG01175.hp1 HG01884.hp2 others(13): Show |
intron_variant | MODIFIER | c.2120-10267A>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51376296 | |||||||
| chr1:51376373 | C | T | 3 | a0002c0001t0009g0117 a0002c0001t0009g0118 a0002c0001t0009g0119 |
3 | HG00735.hp2 HG03491.hp1 HG03492.hp2 |
intron_variant | MODIFIER | c.2120-10344G>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51376373 | |||||||
| chr1:51376521 | G | A | 12 | a0002c0004t0002g0004 a0002c0004t0002g0005 a0002c0004t0002g0006 others(9): Show |
12 | HG01167.hp2 HG01346.hp1 HG01891.hp1 others(9): Show |
intron_variant | MODIFIER | c.2120-10492C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51376521 | |||||||
| chr1:51376608 | G | A | 4 | a0002c0001t0008g0120 a0002c0001t0008g0121 a0002c0001t0008g0122 others(1): Show |
4 | HG00738.hp1 HG01516.hp1 HG01517.hp1 others(1): Show |
intron_variant | MODIFIER | c.2120-10579C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51376608 | |||||||
| chr1:51376647 | G | A | 12 | a0002c0004t0002g0004 a0002c0004t0002g0005 a0002c0004t0002g0006 others(9): Show |
12 | HG01167.hp2 HG01346.hp1 HG01891.hp1 others(9): Show |
intron_variant | MODIFIER | c.2120-10618C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51376647 | |||||||
| chr1:51376819 | T | C | 1 | a0002c0001t0014g0037 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.2120-10790A>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51376819 | |||||||
| chr1:51376865 | C | T | 7 | a0002c0001t0004g0018 a0002c0001t0004g0019 a0002c0001t0004g0020 others(4): Show |
7 | HG00733.hp2 HG00735.hp1 HG01192.hp1 others(4): Show |
intron_variant | MODIFIER | c.2120-10836G>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51376865 | |||||||
| chr1:51376924 | A | G | 14 | a0002c0001t0005g0139 a0002c0001t0005g0140 a0002c0001t0005g0142 others(11): Show |
14 | HG01109.hp1 HG01175.hp1 HG01884.hp2 others(11): Show |
intron_variant | MODIFIER | c.2120-10895T>C | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51376924 | |||||||
| chr1:51376927 | G | A | 2 | a0001c0003t0001g0053 a0001c0003t0001g0058 |
2 | HG00642.hp2 HG02258.hp1 |
intron_variant | MODIFIER | c.2120-10898C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51376927 | |||||||
| chr1:51377035 | G | A | 4 | a0002c0001t0008g0120 a0002c0001t0008g0121 a0002c0001t0008g0122 others(1): Show |
4 | HG00738.hp1 HG01516.hp1 HG01517.hp1 others(1): Show |
intron_variant | MODIFIER | c.2120-11006C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51377035 | |||||||
| chr1:51377072 | G | T | 1 | a0002c0001t0023g0150 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.2120-11043C>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51377072 | |||||||
| chr1:51377129 | G | A | 5 | a0002c0001t0011g0130 a0002c0001t0011g0131 a0002c0001t0011g0132 others(2): Show |
5 | HG01109.hp2 HG02559.hp2 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.2120-11100C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51377129 | |||||||
| chr1:51377150 | G | C | 11 | a0001c0003t0001g0062 a0001c0003t0001g0091 a0002c0001t0007g0133 others(8): Show |
11 | HG00642.hp1 HG01074.hp1 HG01109.hp2 others(8): Show |
intron_variant | MODIFIER | c.2120-11121C>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51377150 | |||||||
| chr1:51377238 | T | C | 3 | a0001c0002t0001g0103 a0003c0005t0001g0017 a0003c0005t0001g0057 |
3 | HG01257.hp1 HG03491.hp2 NA20752.hp2 |
intron_variant | MODIFIER | c.2120-11209A>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51377238 | |||||||
| chr1:51377895 | CT | C | 15 | a0002c0001t0005g0139 a0002c0001t0005g0140 a0002c0001t0005g0142 others(12): Show |
15 | HG01109.hp1 HG01175.hp1 HG01884.hp2 others(12): Show |
intron_variant | MODIFIER | c.2120-11867delA | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51377895 | |||||||
| chr1:51378085 | C | T | 14 | a0002c0004t0002g0004 a0002c0004t0002g0005 a0002c0004t0002g0006 others(11): Show |
14 | HG01167.hp2 HG01346.hp1 HG01891.hp1 others(11): Show |
intron_variant | MODIFIER | c.2120-12056G>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51378085 | |||||||
| chr1:51378112 | G | T | 7 | a0002c0001t0004g0018 a0002c0001t0004g0019 a0002c0001t0004g0020 others(4): Show |
7 | HG00733.hp2 HG00735.hp1 HG01192.hp1 others(4): Show |
intron_variant | MODIFIER | c.2120-12083C>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51378112 | |||||||
| chr1:51378203 | A | AT | 33 | a0002c0001t0004g0044 a0002c0001t0005g0139 a0002c0001t0005g0140 others(30): Show |
33 | HG00735.hp2 HG00738.hp1 HG01109.hp2 others(30): Show |
intron_variant | MODIFIER | c.2120-12175dupA | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51378203 | |||||||
| chr1:51378203 | A | ATT | 21 | a0001c0002t0002g0030 a0001c0002t0002g0031 a0001c0002t0017g0033 others(18): Show |
21 | HG00733.hp2 HG00735.hp1 HG01192.hp1 others(18): Show |
intron_variant | MODIFIER | c.2120-12176_2120-12 others(8): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51378203 | |||||||
| chr1:51378203 | A | ATTT | 17 | a0002c0001t0006g0034 a0002c0001t0006g0035 a0002c0004t0002g0004 others(14): Show |
17 | HG01167.hp2 HG01346.hp1 HG01891.hp1 others(14): Show |
intron_variant | MODIFIER | c.2120-12177_2120-12 others(9): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51378203 | |||||||
| chr1:51378284 | C | T | 1 | a0001c0002t0003g0087 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.2120-12255G>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51378284 | |||||||
| chr1:51378388 | G | A | 4 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(1): Show |
4 | HG00642.hp1 HG01257.hp2 HG03130.hp1 others(1): Show |
intron_variant | MODIFIER | c.2120-12359C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51378388 | |||||||
| chr1:51378515 | C | T | 1 | a0002c0001t0004g0025 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.2120-12486G>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51378515 | |||||||
| chr1:51378530 | T | A | 8 | a0002c0001t0004g0018 a0002c0001t0004g0019 a0002c0001t0004g0020 others(5): Show |
8 | HG00733.hp2 HG00735.hp1 HG01192.hp1 others(5): Show |
intron_variant | MODIFIER | c.2120-12501A>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51378530 | |||||||
| chr1:51378545 | C | A | 4 | a0002c0001t0008g0120 a0002c0001t0008g0121 a0002c0001t0008g0122 others(1): Show |
4 | HG00738.hp1 HG01516.hp1 HG01517.hp1 others(1): Show |
intron_variant | MODIFIER | c.2120-12516G>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51378545 | |||||||
| chr1:51378635 | A | G | 2 | a0002c0001t0009g0116 a0002c0001t0022g0115 |
2 | HG06807.hp1 NA19030.hp2 |
intron_variant | MODIFIER | c.2120-12606T>C | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51378635 | |||||||
| chr1:51378666 | A | G | 4 | a0001c0002t0002g0030 a0001c0002t0002g0031 a0001c0002t0017g0033 others(1): Show |
4 | HG02630.hp2 HG02717.hp1 HG02976.hp1 others(1): Show |
intron_variant | MODIFIER | c.2120-12637T>C | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51378666 | |||||||
| chr1:51378674 | C | T | 9 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(6): Show |
9 | HG00642.hp1 HG01109.hp2 HG01257.hp2 others(6): Show |
intron_variant | MODIFIER | c.2120-12645G>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51378674 | |||||||
| chr1:51378686 | A | C | 9 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(6): Show |
9 | HG00642.hp1 HG01109.hp2 HG01257.hp2 others(6): Show |
intron_variant | MODIFIER | c.2120-12657T>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51378686 | |||||||
| chr1:51378705 | T | C | 1 | a0001c0003t0001g0094 | 1 | HG00733.hp1 | intron_variant | MODIFIER | c.2120-12676A>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51378705 | |||||||
| chr1:51378715 | A | G | 4 | a0002c0001t0012g0001 a0002c0001t0012g0002 a0002c0001t0012g0003 others(1): Show |
4 | HG02257.hp1 HG03139.hp2 HG03486.hp1 others(1): Show |
intron_variant | MODIFIER | c.2120-12686T>C | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51378715 | |||||||
| chr1:51379013 | T | A | 9 | a0002c0001t0006g0027 a0002c0001t0006g0029 a0002c0001t0006g0034 others(6): Show |
9 | HG02257.hp1 HG02572.hp1 HG03041.hp1 others(6): Show |
intron_variant | MODIFIER | c.2120-12984A>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51379013 | |||||||
| chr1:51379069 | C | T | 13 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(10): Show |
13 | HG00642.hp1 HG00738.hp1 HG01109.hp2 others(10): Show |
intron_variant | MODIFIER | c.2120-13040G>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51379069 | |||||||
| chr1:51379106 | G | C | 121 | a0001c0002t0001g0026 a0001c0002t0001g0046 a0001c0002t0001g0047 others(118): Show |
121 | HG00438.hp1 HG00438.hp2 HG00558.hp1 others(118): Show |
intron_variant | MODIFIER | c.2120-13077C>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51379106 | |||||||
| chr1:51379231 | C | T | 2 | a0002c0001t0004g0018 a0002c0001t0004g0021 |
2 | HG00735.hp1 HG01192.hp1 |
intron_variant | MODIFIER | c.2120-13202G>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51379231 | |||||||
| chr1:51379280 | C | G | 1 | a0002c0001t0004g0025 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.2120-13251G>C | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51379280 | |||||||
| chr1:51379322 | G | A | 5 | a0002c0001t0004g0044 a0002c0001t0010g0038 a0002c0001t0010g0039 others(2): Show |
5 | HG02109.hp2 HG02717.hp2 HG02818.hp1 others(2): Show |
intron_variant | MODIFIER | c.2120-13293C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51379322 | |||||||
| chr1:51379330 | G | A | 1 | a0001c0002t0001g0077 | 1 | HG00558.hp1 | intron_variant | MODIFIER | c.2120-13301C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51379330 | |||||||
| chr1:51379569 | T | C | 1 | a0002c0001t0004g0025 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.2120-13540A>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51379569 | |||||||
| chr1:51379590 | A | T | 1 | a0002c0001t0005g0140 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.2120-13561T>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51379590 | |||||||
| chr1:51379814 | C | T | 1 | a0002c0001t0014g0037 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.2120-13785G>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51379814 | |||||||
| chr1:51379843 | C | T | 1 | a0001c0003t0001g0093 | 1 | HG03834.hp1 | intron_variant | MODIFIER | c.2120-13814G>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51379843 | |||||||
| chr1:51379879 | C | T | 5 | a0002c0001t0009g0116 a0002c0001t0009g0117 a0002c0001t0009g0118 others(2): Show |
5 | HG00735.hp2 HG03491.hp1 HG03492.hp2 others(2): Show |
intron_variant | MODIFIER | c.2120-13850G>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51379879 | |||||||
| chr1:51379890 | C | T | 4 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(1): Show |
4 | HG00642.hp1 HG01257.hp2 HG03130.hp1 others(1): Show |
intron_variant | MODIFIER | c.2120-13861G>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51379890 | |||||||
| chr1:51379993 | G | T | 1 | a0009c0009t0015g0125 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.2120-13964C>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51379993 | |||||||
| chr1:51380032 | G | C | 4 | a0001c0002t0002g0030 a0001c0002t0002g0031 a0001c0002t0017g0033 others(1): Show |
4 | HG02630.hp2 HG02717.hp1 HG02976.hp1 others(1): Show |
intron_variant | MODIFIER | c.2120-14003C>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51380032 | |||||||
| chr1:51380057 | G | GA | 8 | a0002c0001t0022g0115 a0002c0004t0002g0011 a0002c0004t0002g0012 others(5): Show |
8 | HG01167.hp2 HG02257.hp2 HG02486.hp2 others(5): Show |
intron_variant | MODIFIER | c.2120-14029dupT | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51380057 | |||||||
| chr1:51380058 | A | G | 2 | a0001c0002t0001g0082 a0001c0002t0017g0033 |
2 | HG01261.hp2 HG02717.hp1 |
intron_variant | MODIFIER | c.2120-14029T>C | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51380058 | |||||||
| chr1:51380160 | G | A | 2 | a0001c0002t0001g0088 a0001c0002t0019g0055 |
2 | HG00558.hp2 NA18747.hp2 |
intron_variant | MODIFIER | c.2120-14131C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51380160 | |||||||
| chr1:51380531 | T | C | 14 | a0002c0004t0002g0004 a0002c0004t0002g0005 a0002c0004t0002g0006 others(11): Show |
14 | HG01167.hp2 HG01346.hp1 HG01891.hp1 others(11): Show |
intron_variant | MODIFIER | c.2119+13850A>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51380531 | |||||||
| chr1:51381053 | C | T | 1 | a0002c0001t0010g0039 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.2119+13328G>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51381053 | |||||||
| chr1:51381109 | T | TTCAATGT others(15): Show |
9 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(6): Show |
9 | HG00642.hp1 HG01109.hp2 HG01257.hp2 others(6): Show |
intron_variant | MODIFIER | c.2119+13271_2119+13 others(28): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51381109 | |||||||
| chr1:51381255 | C | T | 2 | a0003c0005t0001g0017 a0003c0005t0001g0057 |
2 | HG01257.hp1 NA20752.hp2 |
intron_variant | MODIFIER | c.2119+13126G>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51381255 | |||||||
| chr1:51381311 | A | G | 9 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(6): Show |
9 | HG00642.hp1 HG01109.hp2 HG01257.hp2 others(6): Show |
intron_variant | MODIFIER | c.2119+13070T>C | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51381311 | |||||||
| chr1:51381390 | C | T | 5 | a0002c0001t0009g0116 a0002c0001t0009g0117 a0002c0001t0009g0118 others(2): Show |
5 | HG00735.hp2 HG03491.hp1 HG03492.hp2 others(2): Show |
intron_variant | MODIFIER | c.2119+12991G>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51381390 | |||||||
| chr1:51381528 | G | A | 1 | a0002c0001t0022g0115 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.2119+12853C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51381528 | |||||||
| chr1:51381541 | T | C | 9 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(6): Show |
9 | HG00642.hp1 HG01109.hp2 HG01257.hp2 others(6): Show |
intron_variant | MODIFIER | c.2119+12840A>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51381541 | |||||||
| chr1:51381568 | G | T | 1 | a0002c0001t0010g0039 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.2119+12813C>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51381568 | |||||||
| chr1:51381586 | C | T | 5 | a0002c0001t0006g0027 a0002c0001t0006g0029 a0002c0001t0006g0034 others(2): Show |
5 | HG02572.hp1 HG03041.hp1 HG03098.hp1 others(2): Show |
intron_variant | MODIFIER | c.2119+12795G>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51381586 | |||||||
| chr1:51381649 | A | C | 2 | a0002c0001t0004g0042 a0002c0001t0004g0043 |
2 | HG02630.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.2119+12732T>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51381649 | |||||||
| chr1:51381675 | G | A | 1 | a0001c0002t0001g0045 | 1 | HG02572.hp2 | intron_variant | MODIFIER | c.2119+12706C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51381675 | |||||||
| chr1:51381679 | T | C | 4 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(1): Show |
4 | HG00642.hp1 HG01257.hp2 HG03130.hp1 others(1): Show |
intron_variant | MODIFIER | c.2119+12702A>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51381679 | |||||||
| chr1:51381705 | C | T | 3 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 |
3 | HG00642.hp1 HG01257.hp2 NA20129.hp2 |
intron_variant | MODIFIER | c.2119+12676G>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51381705 | |||||||
| chr1:51381950 | T | C | 1 | a0001c0003t0001g0067 | 1 | HG01192.hp2 | intron_variant | MODIFIER | c.2119+12431A>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51381950 | |||||||
| chr1:51382048 | C | T | 3 | a0002c0001t0004g0020 a0003c0005t0001g0017 a0003c0005t0001g0057 |
3 | HG01257.hp1 NA20752.hp2 NA20805.hp1 |
intron_variant | MODIFIER | c.2119+12333G>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51382048 | |||||||
| chr1:51382249 | A | G | 4 | a0001c0002t0002g0030 a0001c0002t0002g0031 a0001c0002t0017g0033 others(1): Show |
4 | HG02630.hp2 HG02717.hp1 HG02976.hp1 others(1): Show |
intron_variant | MODIFIER | c.2119+12132T>C | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51382249 | |||||||
| chr1:51382378 | G | C | 1 | a0002c0001t0005g0140 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.2119+12003C>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51382378 | |||||||
| chr1:51382416 | A | AT | 19 | a0001c0002t0001g0052 a0001c0002t0001g0096 a0001c0002t0002g0030 others(16): Show |
19 | HG00642.hp1 HG00733.hp1 HG00738.hp2 others(16): Show |
intron_variant | MODIFIER | c.2119+11964dupA | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51382416 | |||||||
| chr1:51382416 | A | ATT | 9 | a0002c0001t0004g0018 a0002c0001t0004g0019 a0002c0001t0004g0020 others(6): Show |
9 | HG00733.hp2 HG00735.hp1 HG01192.hp1 others(6): Show |
intron_variant | MODIFIER | c.2119+11963_2119+11 others(8): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51382416 | |||||||
| chr1:51382416 | AT | A | 5 | a0002c0001t0006g0034 a0002c0001t0012g0001 a0002c0001t0012g0002 others(2): Show |
5 | HG02257.hp1 HG03098.hp1 HG03139.hp2 others(2): Show |
intron_variant | MODIFIER | c.2119+11964delA | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51382416 | |||||||
| chr1:51382479 | T | C | 9 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(6): Show |
9 | HG00642.hp1 HG01109.hp2 HG01257.hp2 others(6): Show |
intron_variant | MODIFIER | c.2119+11902A>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51382479 | |||||||
| chr1:51382532 | T | C | 13 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(10): Show |
13 | HG00642.hp1 HG00738.hp1 HG01109.hp2 others(10): Show |
intron_variant | MODIFIER | c.2119+11849A>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51382532 | |||||||
| chr1:51382563 | C | T | 1 | a0002c0001t0022g0115 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.2119+11818G>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51382563 | |||||||
| chr1:51382580 | G | A | 12 | a0002c0004t0002g0004 a0002c0004t0002g0005 a0002c0004t0002g0006 others(9): Show |
12 | HG01167.hp2 HG01346.hp1 HG01891.hp1 others(9): Show |
intron_variant | MODIFIER | c.2119+11801C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51382580 | |||||||
| chr1:51382955 | A | T | 4 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(1): Show |
4 | HG00642.hp1 HG01257.hp2 HG03130.hp1 others(1): Show |
intron_variant | MODIFIER | c.2119+11426T>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51382955 | |||||||
| chr1:51383090 | T | G | 5 | a0002c0001t0009g0116 a0002c0001t0009g0117 a0002c0001t0009g0118 others(2): Show |
5 | HG00735.hp2 HG03491.hp1 HG03492.hp2 others(2): Show |
intron_variant | MODIFIER | c.2119+11291A>C | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51383090 | |||||||
| chr1:51383198 | C | T | 16 | a0002c0001t0005g0139 a0002c0001t0005g0140 a0002c0001t0005g0142 others(13): Show |
16 | HG01109.hp1 HG01175.hp1 HG01884.hp2 others(13): Show |
intron_variant | MODIFIER | c.2119+11183G>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51383198 | |||||||
| chr1:51383277 | T | C | 9 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(6): Show |
9 | HG00642.hp1 HG01109.hp2 HG01257.hp2 others(6): Show |
intron_variant | MODIFIER | c.2119+11104A>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51383277 | |||||||
| chr1:51383600 | C | T | 3 | a0001c0002t0001g0103 a0003c0005t0001g0017 a0003c0005t0001g0057 |
3 | HG01257.hp1 HG03491.hp2 NA20752.hp2 |
intron_variant | MODIFIER | c.2119+10781G>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51383600 | |||||||
| chr1:51383605 | C | T | 1 | a0001c0002t0003g0092 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.2119+10776G>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51383605 | |||||||
| chr1:51383731 | G | A | 1 | a0009c0009t0015g0125 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.2119+10650C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51383731 | |||||||
| chr1:51383734 | G | A | 1 | a0002c0001t0012g0002 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.2119+10647C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51383734 | |||||||
| chr1:51383741 | C | A | 5 | a0002c0001t0011g0130 a0002c0001t0011g0131 a0002c0001t0011g0132 others(2): Show |
5 | HG01109.hp2 HG02559.hp2 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.2119+10640G>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51383741 | |||||||
| chr1:51384016 | T | G | 4 | a0002c0001t0008g0120 a0002c0001t0008g0121 a0002c0001t0008g0122 others(1): Show |
4 | HG00738.hp1 HG01516.hp1 HG01517.hp1 others(1): Show |
intron_variant | MODIFIER | c.2119+10365A>C | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51384016 | |||||||
| chr1:51384077 | G | C | 4 | a0002c0001t0008g0120 a0002c0001t0008g0121 a0002c0001t0008g0122 others(1): Show |
4 | HG00738.hp1 HG01516.hp1 HG01517.hp1 others(1): Show |
intron_variant | MODIFIER | c.2119+10304C>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51384077 | |||||||
| chr1:51384294 | C | CT | 4 | a0002c0001t0005g0142 a0002c0001t0009g0117 a0002c0001t0009g0118 others(1): Show |
4 | HG00735.hp2 HG02055.hp2 HG03491.hp1 others(1): Show |
intron_variant | MODIFIER | c.2119+10086dupA | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51384294 | |||||||
| chr1:51384294 | C | CTTT | 3 | a0001c0002t0002g0030 a0001c0002t0002g0031 a0002c0001t0009g0116 |
3 | HG02630.hp2 NA19030.hp2 NA19240.hp1 |
intron_variant | MODIFIER | c.2119+10084_2119+10 others(9): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51384294 | |||||||
| chr1:51384296 | TTC | T | 21 | a0002c0001t0004g0018 a0002c0001t0004g0019 a0002c0001t0004g0020 others(18): Show |
21 | HG00733.hp2 HG00735.hp1 HG01167.hp2 others(18): Show |
intron_variant | MODIFIER | c.2119+10083_2119+10 others(8): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51384296 | |||||||
| chr1:51384297 | TC | T | 20 | a0002c0001t0004g0044 a0002c0001t0005g0140 a0002c0001t0005g0144 others(17): Show |
20 | HG01109.hp1 HG01175.hp1 HG01884.hp2 others(17): Show |
intron_variant | MODIFIER | c.2119+10083delG | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51384297 | |||||||
| chr1:51384298 | C | CT | 45 | a0001c0002t0001g0026 a0001c0002t0001g0046 a0001c0002t0001g0047 others(42): Show |
45 | HG00438.hp1 HG00438.hp2 HG00558.hp1 others(42): Show |
intron_variant | MODIFIER | c.2119+10082dupA | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51384298 | |||||||
| chr1:51384298 | C | CTT | 5 | a0001c0002t0003g0080 a0001c0002t0013g0089 a0001c0002t0013g0102 others(2): Show |
5 | HG00741.hp2 HG01952.hp1 HG02723.hp2 others(2): Show |
intron_variant | MODIFIER | c.2119+10081_2119+10 others(8): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51384298 | |||||||
| chr1:51384298 | C | T | 28 | a0001c0002t0002g0030 a0001c0002t0002g0031 a0001c0002t0017g0033 others(25): Show |
28 | HG00642.hp1 HG00735.hp2 HG00738.hp1 others(25): Show |
intron_variant | MODIFIER | c.2119+10083G>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51384298 | |||||||
| chr1:51384299 | T | C | 2 | a0001c0003t0001g0069 a0001c0003t0001g0071 |
2 | HG02735.hp1 HG04204.hp2 |
intron_variant | MODIFIER | c.2119+10082A>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51384299 | |||||||
| chr1:51384327 | G | C | 2 | a0002c0001t0014g0036 a0002c0001t0014g0037 |
2 | HG02451.hp2 HG02976.hp2 |
intron_variant | MODIFIER | c.2119+10054C>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51384327 | |||||||
| chr1:51384471 | T | C | 2 | a0001c0003t0001g0062 a0001c0003t0001g0091 |
2 | HG01074.hp1 HG01168.hp1 |
intron_variant | MODIFIER | c.2119+9910A>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51384471 | |||||||
| chr1:51384473 | G | C | 4 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(1): Show |
4 | HG00642.hp1 HG01257.hp2 HG03130.hp1 others(1): Show |
intron_variant | MODIFIER | c.2119+9908C>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51384473 | |||||||
| chr1:51384508 | C | T | 2 | a0002c0001t0004g0042 a0002c0001t0004g0043 |
2 | HG02630.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.2119+9873G>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51384508 | |||||||
| chr1:51384632 | C | A | 2 | a0002c0001t0006g0034 a0002c0001t0006g0035 |
2 | HG03098.hp1 NA18906.hp2 |
intron_variant | MODIFIER | c.2119+9749G>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51384632 | |||||||
| chr1:51384729 | G | A | 1 | a0001c0003t0001g0109 | 1 | HG01346.hp2 | intron_variant | MODIFIER | c.2119+9652C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51384729 | |||||||
| chr1:51384771 | A | C | 5 | a0001c0003t0001g0053 a0001c0003t0001g0058 a0001c0003t0001g0059 others(2): Show |
5 | HG00642.hp2 HG01884.hp1 HG02145.hp2 others(2): Show |
intron_variant | MODIFIER | c.2119+9610T>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51384771 | |||||||
| chr1:51384800 | A | G | 1 | a0002c0001t0023g0150 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.2119+9581T>C | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51384800 | |||||||
| chr1:51384853 | G | A | 4 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(1): Show |
4 | HG00642.hp1 HG01257.hp2 HG03130.hp1 others(1): Show |
intron_variant | MODIFIER | c.2119+9528C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51384853 | |||||||
| chr1:51384896 | G | T | 2 | a0001c0002t0001g0079 a0001c0002t0001g0110 |
2 | HG04115.hp2 HG04228.hp2 |
intron_variant | MODIFIER | c.2119+9485C>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51384896 | |||||||
| chr1:51385000 | G | C | 4 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(1): Show |
4 | HG00642.hp1 HG01257.hp2 HG03130.hp1 others(1): Show |
intron_variant | MODIFIER | c.2119+9381C>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51385000 | |||||||
| chr1:51385029 | C | T | 4 | a0002c0001t0008g0120 a0002c0001t0008g0121 a0002c0001t0008g0122 others(1): Show |
4 | HG00738.hp1 HG01516.hp1 HG01517.hp1 others(1): Show |
intron_variant | MODIFIER | c.2119+9352G>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51385029 | |||||||
| chr1:51385129 | C | T | 9 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(6): Show |
9 | HG00642.hp1 HG01109.hp2 HG01257.hp2 others(6): Show |
intron_variant | MODIFIER | c.2119+9252G>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51385129 | |||||||
| chr1:51385186 | C | A | 4 | a0001c0002t0002g0030 a0001c0002t0002g0031 a0001c0002t0017g0033 others(1): Show |
4 | HG02630.hp2 HG02717.hp1 HG02976.hp1 others(1): Show |
intron_variant | MODIFIER | c.2119+9195G>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51385186 | |||||||
| chr1:51385262 | G | A | 1 | a0001c0002t0001g0081 | 1 | HG03492.hp1 | intron_variant | MODIFIER | c.2119+9119C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51385262 | |||||||
| chr1:51385483 | T | C | 3 | a0002c0001t0012g0001 a0002c0001t0012g0002 a0002c0001t0012g0003 |
3 | HG02257.hp1 HG03139.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.2119+8898A>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51385483 | |||||||
| chr1:51385563 | C | T | 5 | a0002c0001t0011g0130 a0002c0001t0011g0131 a0002c0001t0011g0132 others(2): Show |
5 | HG01109.hp2 HG02559.hp2 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.2119+8818G>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51385563 | |||||||
| chr1:51385745 | T | C | 9 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(6): Show |
9 | HG00642.hp1 HG01109.hp2 HG01257.hp2 others(6): Show |
intron_variant | MODIFIER | c.2119+8636A>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51385745 | |||||||
| chr1:51385755 | T | C | 4 | a0002c0001t0008g0120 a0002c0001t0008g0121 a0002c0001t0008g0122 others(1): Show |
4 | HG00738.hp1 HG01516.hp1 HG01517.hp1 others(1): Show |
intron_variant | MODIFIER | c.2119+8626A>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51385755 | |||||||
| chr1:51385997 | G | A | 5 | a0002c0001t0009g0116 a0002c0001t0009g0117 a0002c0001t0009g0118 others(2): Show |
5 | HG00735.hp2 HG03491.hp1 HG03492.hp2 others(2): Show |
intron_variant | MODIFIER | c.2119+8384C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51385997 | |||||||
| chr1:51386113 | C | T | 4 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(1): Show |
4 | HG00642.hp1 HG01257.hp2 HG03130.hp1 others(1): Show |
intron_variant | MODIFIER | c.2119+8268G>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51386113 | |||||||
| chr1:51386206 | G | A | 16 | a0002c0001t0005g0139 a0002c0001t0005g0140 a0002c0001t0005g0142 others(13): Show |
16 | HG01109.hp1 HG01175.hp1 HG01884.hp2 others(13): Show |
intron_variant | MODIFIER | c.2119+8175C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51386206 | |||||||
| chr1:51386241 | T | A | 4 | a0002c0001t0008g0120 a0002c0001t0008g0121 a0002c0001t0008g0122 others(1): Show |
4 | HG00738.hp1 HG01516.hp1 HG01517.hp1 others(1): Show |
intron_variant | MODIFIER | c.2119+8140A>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51386241 | |||||||
| chr1:51386242 | T | A | 16 | a0002c0001t0005g0139 a0002c0001t0005g0140 a0002c0001t0005g0142 others(13): Show |
16 | HG01109.hp1 HG01175.hp1 HG01884.hp2 others(13): Show |
intron_variant | MODIFIER | c.2119+8139A>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51386242 | |||||||
| chr1:51386292 | T | C | 1 | a0001c0002t0002g0031 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.2119+8089A>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51386292 | |||||||
| chr1:51386351 | G | C | 3 | a0001c0002t0003g0072 a0001c0002t0003g0073 a0001c0002t0003g0087 |
3 | HG02647.hp2 HG03130.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.2119+8030C>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51386351 | |||||||
| chr1:51386424 | T | C | 9 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(6): Show |
9 | HG00642.hp1 HG01109.hp2 HG01257.hp2 others(6): Show |
intron_variant | MODIFIER | c.2119+7957A>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51386424 | |||||||
| chr1:51386493 | G | A | 2 | a0002c0001t0009g0116 a0002c0001t0022g0115 |
2 | HG06807.hp1 NA19030.hp2 |
intron_variant | MODIFIER | c.2119+7888C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51386493 | |||||||
| chr1:51386604 | T | C | 3 | a0002c0001t0009g0117 a0002c0001t0009g0118 a0002c0001t0009g0119 |
3 | HG00735.hp2 HG03491.hp1 HG03492.hp2 |
intron_variant | MODIFIER | c.2119+7777A>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51386604 | |||||||
| chr1:51386647 | A | G | 1 | a0002c0001t0005g0140 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.2119+7734T>C | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51386647 | |||||||
| chr1:51386724 | G | C | 5 | a0002c0001t0011g0130 a0002c0001t0011g0131 a0002c0001t0011g0132 others(2): Show |
5 | HG01109.hp2 HG02559.hp2 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.2119+7657C>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51386724 | |||||||
| chr1:51387010 | T | A | 13 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(10): Show |
13 | HG00642.hp1 HG00738.hp1 HG01109.hp2 others(10): Show |
intron_variant | MODIFIER | c.2119+7371A>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51387010 | |||||||
| chr1:51387081 | T | A | 1 | a0007c0008t0002g0032 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.2119+7300A>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51387081 | |||||||
| chr1:51387114 | G | A | 1 | a0002c0001t0004g0044 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.2119+7267C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51387114 | |||||||
| chr1:51387294 | T | C | 5 | a0002c0001t0011g0130 a0002c0001t0011g0131 a0002c0001t0011g0132 others(2): Show |
5 | HG01109.hp2 HG02559.hp2 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.2119+7087A>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51387294 | |||||||
| chr1:51387344 | A | G | 1 | a0009c0009t0015g0125 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.2119+7037T>C | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51387344 | |||||||
| chr1:51387380 | G | T | 2 | a0002c0001t0009g0116 a0002c0001t0022g0115 |
2 | HG06807.hp1 NA19030.hp2 |
intron_variant | MODIFIER | c.2119+7001C>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51387380 | |||||||
| chr1:51387391 | C | G | 2 | a0002c0001t0006g0034 a0002c0001t0006g0035 |
2 | HG03098.hp1 NA18906.hp2 |
intron_variant | MODIFIER | c.2119+6990G>C | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51387391 | |||||||
| chr1:51387425 | C | A | 74 | a0001c0002t0002g0030 a0001c0002t0002g0031 a0001c0002t0017g0033 others(71): Show |
74 | HG00642.hp1 HG00733.hp2 HG00735.hp1 others(71): Show |
intron_variant | MODIFIER | c.2119+6956G>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51387425 | |||||||
| chr1:51387540 | T | G | 1 | a0002c0001t0004g0020 | 1 | NA20805.hp1 | intron_variant | MODIFIER | c.2119+6841A>C | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51387540 | |||||||
| chr1:51387554 | T | C | 20 | a0002c0001t0004g0018 a0002c0001t0004g0019 a0002c0001t0004g0020 others(17): Show |
20 | HG00733.hp2 HG00735.hp1 HG00735.hp2 others(17): Show |
intron_variant | MODIFIER | c.2119+6827A>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51387554 | |||||||
| chr1:51387610 | G | A | 9 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(6): Show |
9 | HG00642.hp1 HG01109.hp2 HG01257.hp2 others(6): Show |
intron_variant | MODIFIER | c.2119+6771C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51387610 | |||||||
| chr1:51387780 | TA | T | 4 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(1): Show |
4 | HG00642.hp1 HG01257.hp2 HG03130.hp1 others(1): Show |
intron_variant | MODIFIER | c.2119+6600delT | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51387780 | |||||||
| chr1:51387989 | C | A | 1 | a0001c0002t0001g0105 | 1 | NA20752.hp1 | intron_variant | MODIFIER | c.2119+6392G>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51387989 | |||||||
| chr1:51387994 | C | A | 4 | a0002c0001t0008g0120 a0002c0001t0008g0121 a0002c0001t0008g0122 others(1): Show |
4 | HG00738.hp1 HG01516.hp1 HG01517.hp1 others(1): Show |
intron_variant | MODIFIER | c.2119+6387G>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51387994 | |||||||
| chr1:51388059 | T | C | 13 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(10): Show |
13 | HG00642.hp1 HG00738.hp1 HG01109.hp2 others(10): Show |
intron_variant | MODIFIER | c.2119+6322A>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51388059 | |||||||
| chr1:51388060 | G | A | 13 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(10): Show |
13 | HG00642.hp1 HG00738.hp1 HG01109.hp2 others(10): Show |
intron_variant | MODIFIER | c.2119+6321C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51388060 | |||||||
| chr1:51388077 | T | G | 4 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(1): Show |
4 | HG00642.hp1 HG01257.hp2 HG03130.hp1 others(1): Show |
intron_variant | MODIFIER | c.2119+6304A>C | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51388077 | |||||||
| chr1:51388164 | A | G | 1 | a0002c0001t0024g0141 | 1 | HG01175.hp1 | intron_variant | MODIFIER | c.2119+6217T>C | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51388164 | |||||||
| chr1:51388192 | A | C | 9 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(6): Show |
9 | HG00642.hp1 HG01109.hp2 HG01257.hp2 others(6): Show |
intron_variant | MODIFIER | c.2119+6189T>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51388192 | |||||||
| chr1:51388389 | C | T | 1 | a0001c0003t0001g0064 | 1 | HG00738.hp2 | intron_variant | MODIFIER | c.2119+5992G>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51388389 | |||||||
| chr1:51388534 | T | G | 5 | a0002c0001t0011g0130 a0002c0001t0011g0131 a0002c0001t0011g0132 others(2): Show |
5 | HG01109.hp2 HG02559.hp2 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.2119+5847A>C | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51388534 | |||||||
| chr1:51388565 | C | T | 1 | a0001c0002t0001g0082 | 1 | HG01261.hp2 | intron_variant | MODIFIER | c.2119+5816G>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51388565 | |||||||
| chr1:51388566 | G | A | 9 | a0002c0001t0006g0027 a0002c0001t0006g0029 a0002c0001t0006g0034 others(6): Show |
9 | HG02257.hp1 HG02572.hp1 HG03041.hp1 others(6): Show |
intron_variant | MODIFIER | c.2119+5815C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51388566 | |||||||
| chr1:51388590 | A | G | 1 | a0002c0001t0021g0143 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.2119+5791T>C | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51388590 | |||||||
| chr1:51388612 | G | A | 10 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(7): Show |
10 | HG00642.hp1 HG01109.hp2 HG01257.hp2 others(7): Show |
intron_variant | MODIFIER | c.2119+5769C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51388612 | |||||||
| chr1:51388643 | C | T | 4 | a0002c0001t0008g0120 a0002c0001t0008g0121 a0002c0001t0008g0122 others(1): Show |
4 | HG00738.hp1 HG01516.hp1 HG01517.hp1 others(1): Show |
intron_variant | MODIFIER | c.2119+5738G>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51388643 | |||||||
| chr1:51388645 | G | A | 5 | a0002c0001t0009g0116 a0002c0001t0009g0117 a0002c0001t0009g0118 others(2): Show |
5 | HG00735.hp2 HG03491.hp1 HG03492.hp2 others(2): Show |
intron_variant | MODIFIER | c.2119+5736C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51388645 | |||||||
| chr1:51388683 | C | T | 3 | a0001c0002t0001g0126 a0001c0002t0001g0127 a0001c0002t0001g0128 |
3 | HG00438.hp1 NA18747.hp1 NA19011.hp2 |
intron_variant | MODIFIER | c.2119+5698G>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51388683 | |||||||
| chr1:51388735 | C | A | 3 | a0002c0001t0009g0117 a0002c0001t0009g0118 a0002c0001t0009g0119 |
3 | HG00735.hp2 HG03491.hp1 HG03492.hp2 |
intron_variant | MODIFIER | c.2119+5646G>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51388735 | |||||||
| chr1:51388899 | A | G | 2 | a0002c0001t0006g0034 a0002c0001t0006g0035 |
2 | HG03098.hp1 NA18906.hp2 |
intron_variant | MODIFIER | c.2119+5482T>C | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51388899 | |||||||
| chr1:51388936 | G | C | 1 | a0002c0001t0004g0044 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.2119+5445C>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51388936 | |||||||
| chr1:51388988 | T | C | 2 | a0001c0002t0013g0089 a0001c0002t0013g0102 |
2 | HG00741.hp2 HG01952.hp1 |
intron_variant | MODIFIER | c.2119+5393A>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51388988 | |||||||
| chr1:51389009 | C | T | 5 | a0002c0001t0011g0130 a0002c0001t0011g0131 a0002c0001t0011g0132 others(2): Show |
5 | HG01109.hp2 HG02559.hp2 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.2119+5372G>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51389009 | |||||||
| chr1:51389129 | T | C | 2 | a0002c0001t0004g0042 a0002c0001t0004g0043 |
2 | HG02630.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.2119+5252A>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51389129 | |||||||
| chr1:51389204 | C | A | 9 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(6): Show |
9 | HG00642.hp1 HG01109.hp2 HG01257.hp2 others(6): Show |
intron_variant | MODIFIER | c.2119+5177G>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51389204 | |||||||
| chr1:51389262 | TCAA | T | 3 | a0002c0001t0009g0117 a0002c0001t0009g0118 a0002c0001t0009g0119 |
3 | HG00735.hp2 HG03491.hp1 HG03492.hp2 |
intron_variant | MODIFIER | c.2119+5116_2119+511 others(7): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51389262 | |||||||
| chr1:51389285 | T | C | 13 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(10): Show |
13 | HG00642.hp1 HG00738.hp1 HG01109.hp2 others(10): Show |
intron_variant | MODIFIER | c.2119+5096A>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51389285 | |||||||
| chr1:51389293 | A | G | 2 | a0002c0001t0009g0116 a0002c0001t0022g0115 |
2 | HG06807.hp1 NA19030.hp2 |
intron_variant | MODIFIER | c.2119+5088T>C | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51389293 | |||||||
| chr1:51389313 | G | A | 2 | a0001c0002t0002g0030 a0001c0002t0002g0031 |
2 | HG02630.hp2 NA19240.hp1 |
intron_variant | MODIFIER | c.2119+5068C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51389313 | |||||||
| chr1:51389402 | C | A | 4 | a0002c0001t0010g0038 a0002c0001t0010g0039 a0002c0001t0010g0041 others(1): Show |
4 | HG02109.hp2 HG02717.hp2 HG02818.hp1 others(1): Show |
intron_variant | MODIFIER | c.2119+4979G>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51389402 | |||||||
| chr1:51389526 | A | C | 1 | a0002c0001t0007g0134 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.2119+4855T>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51389526 | |||||||
| chr1:51389706 | T | C | 1 | a0001c0002t0001g0103 | 1 | HG03491.hp2 | intron_variant | MODIFIER | c.2119+4675A>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51389706 | |||||||
| chr1:51389723 | A | C | 4 | a0002c0001t0008g0120 a0002c0001t0008g0121 a0002c0001t0008g0122 others(1): Show |
4 | HG00738.hp1 HG01516.hp1 HG01517.hp1 others(1): Show |
intron_variant | MODIFIER | c.2119+4658T>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51389723 | |||||||
| chr1:51389903 | T | G | 1 | a0002c0001t0005g0140 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.2119+4478A>C | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51389903 | |||||||
| chr1:51389997 | T | C | 9 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(6): Show |
9 | HG00642.hp1 HG01109.hp2 HG01257.hp2 others(6): Show |
intron_variant | MODIFIER | c.2119+4384A>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51389997 | |||||||
| chr1:51390147 | T | C | 16 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(13): Show |
16 | HG00642.hp1 HG00738.hp1 HG01109.hp2 others(13): Show |
intron_variant | MODIFIER | c.2119+4234A>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51390147 | |||||||
| chr1:51390152 | A | T | 7 | a0002c0001t0004g0018 a0002c0001t0004g0019 a0002c0001t0004g0020 others(4): Show |
7 | HG00733.hp2 HG00735.hp1 HG01192.hp1 others(4): Show |
intron_variant | MODIFIER | c.2119+4229T>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51390152 | |||||||
| chr1:51390156 | C | T | 4 | a0002c0001t0008g0120 a0002c0001t0008g0121 a0002c0001t0008g0122 others(1): Show |
4 | HG00738.hp1 HG01516.hp1 HG01517.hp1 others(1): Show |
intron_variant | MODIFIER | c.2119+4225G>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51390156 | |||||||
| chr1:51390179 | A | T | 2 | a0002c0001t0009g0116 a0002c0001t0022g0115 |
2 | HG06807.hp1 NA19030.hp2 |
intron_variant | MODIFIER | c.2119+4202T>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51390179 | |||||||
| chr1:51390286 | C | G | 1 | a0002c0001t0004g0044 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.2119+4095G>C | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51390286 | |||||||
| chr1:51390338 | G | A | 1 | a0001c0003t0001g0091 | 1 | HG01074.hp1 | intron_variant | MODIFIER | c.2119+4043C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51390338 | |||||||
| chr1:51390338 | G | C | 1 | a0002c0004t0002g0010 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.2119+4043C>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51390338 | |||||||
| chr1:51390381 | T | A | 1 | a0002c0001t0011g0130 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.2119+4000A>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51390381 | |||||||
| chr1:51390382 | C | T | 1 | a0002c0001t0011g0130 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.2119+3999G>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51390382 | |||||||
| chr1:51390442 | A | C | 4 | a0002c0001t0008g0120 a0002c0001t0008g0121 a0002c0001t0008g0122 others(1): Show |
4 | HG00738.hp1 HG01516.hp1 HG01517.hp1 others(1): Show |
intron_variant | MODIFIER | c.2119+3939T>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51390442 | |||||||
| chr1:51390706 | G | A | 74 | a0001c0002t0002g0030 a0001c0002t0002g0031 a0001c0002t0017g0033 others(71): Show |
74 | HG00642.hp1 HG00733.hp2 HG00735.hp1 others(71): Show |
intron_variant | MODIFIER | c.2119+3675C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51390706 | |||||||
| chr1:51390747 | A | G | 16 | a0002c0001t0005g0139 a0002c0001t0005g0140 a0002c0001t0005g0142 others(13): Show |
16 | HG01109.hp1 HG01175.hp1 HG01884.hp2 others(13): Show |
intron_variant | MODIFIER | c.2119+3634T>C | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51390747 | |||||||
| chr1:51390783 | T | C | 2 | a0001c0002t0001g0104 a0001c0002t0001g0105 |
2 | HG00639.hp1 NA20752.hp1 |
intron_variant | MODIFIER | c.2119+3598A>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51390783 | |||||||
| chr1:51390810 | AAAC | A | 4 | a0001c0002t0002g0030 a0001c0002t0002g0031 a0001c0002t0017g0033 others(1): Show |
4 | HG02630.hp2 HG02717.hp1 HG02976.hp1 others(1): Show |
intron_variant | MODIFIER | c.2119+3568_2119+357 others(7): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51390810 | |||||||
| chr1:51390937 | C | G | 1 | a0001c0003t0001g0093 | 1 | HG03834.hp1 | intron_variant | MODIFIER | c.2119+3444G>C | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51390937 | |||||||
| chr1:51390980 | C | T | 12 | a0002c0004t0002g0004 a0002c0004t0002g0005 a0002c0004t0002g0006 others(9): Show |
12 | HG01167.hp2 HG01346.hp1 HG01891.hp1 others(9): Show |
intron_variant | MODIFIER | c.2119+3401G>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51390980 | |||||||
| chr1:51391014 | C | T | 1 | a0001c0003t0001g0109 | 1 | HG01346.hp2 | intron_variant | MODIFIER | c.2119+3367G>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51391014 | |||||||
| chr1:51391230 | C | T | 4 | a0002c0001t0008g0120 a0002c0001t0008g0121 a0002c0001t0008g0122 others(1): Show |
4 | HG00738.hp1 HG01516.hp1 HG01517.hp1 others(1): Show |
intron_variant | MODIFIER | c.2119+3151G>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51391230 | |||||||
| chr1:51391310 | T | G | 1 | a0002c0001t0004g0025 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.2119+3071A>C | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51391310 | |||||||
| chr1:51391313 | G | A | 2 | a0001c0003t0001g0094 a0002c0001t0004g0025 |
2 | HG00733.hp1 HG02922.hp2 |
intron_variant | MODIFIER | c.2119+3068C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51391313 | |||||||
| chr1:51391353 | T | C | 4 | a0002c0004t0002g0014 a0002c0004t0002g0015 a0002c0004t0002g0016 others(1): Show |
4 | HG02486.hp2 HG02922.hp1 HG02970.hp2 others(1): Show |
intron_variant | MODIFIER | c.2119+3028A>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51391353 | |||||||
| chr1:51391455 | T | TAATAA | 15 | a0002c0001t0004g0018 a0002c0001t0004g0019 a0002c0001t0004g0020 others(12): Show |
15 | HG00733.hp2 HG00735.hp1 HG00738.hp1 others(12): Show |
intron_variant | MODIFIER | c.2119+2921_2119+292 others(9): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51391455 | |||||||
| chr1:51391455 | T | TAATAAAA others(3): Show |
4 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(1): Show |
4 | HG00642.hp1 HG01257.hp2 HG03130.hp1 others(1): Show |
intron_variant | MODIFIER | c.2119+2916_2119+292 others(14): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51391455 | |||||||
| chr1:51391455 | T | TAATAAAA others(8): Show |
2 | a0002c0001t0004g0042 a0002c0001t0004g0043 |
2 | HG02630.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.2119+2911_2119+292 others(19): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51391455 | |||||||
| chr1:51391455 | TAATAA | T | 5 | a0002c0001t0004g0044 a0002c0001t0009g0116 a0002c0001t0009g0117 others(2): Show |
5 | HG00735.hp2 HG03453.hp2 HG03491.hp1 others(2): Show |
intron_variant | MODIFIER | c.2119+2921_2119+292 others(9): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51391455 | |||||||
| chr1:51391455 | TAATAAAA others(3): Show |
T | 2 | a0001c0002t0017g0033 a0002c0001t0022g0115 |
2 | HG02717.hp1 HG06807.hp1 |
intron_variant | MODIFIER | c.2119+2916_2119+292 others(14): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51391455 | |||||||
| chr1:51391455 | TAATAAAA others(8): Show |
T | 9 | a0002c0001t0006g0027 a0002c0001t0006g0029 a0002c0001t0006g0034 others(6): Show |
9 | HG02257.hp1 HG02572.hp1 HG03041.hp1 others(6): Show |
intron_variant | MODIFIER | c.2119+2911_2119+292 others(19): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51391455 | |||||||
| chr1:51391626 | T | C | 5 | a0002c0001t0011g0130 a0002c0001t0011g0131 a0002c0001t0011g0132 others(2): Show |
5 | HG01109.hp2 HG02559.hp2 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.2119+2755A>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51391626 | |||||||
| chr1:51391709 | A | G | 1 | a0001c0002t0001g0051 | 1 | HG03688.hp2 | intron_variant | MODIFIER | c.2119+2672T>C | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51391709 | |||||||
| chr1:51391729 | A | G | 5 | a0002c0001t0009g0116 a0002c0001t0009g0117 a0002c0001t0009g0118 others(2): Show |
5 | HG00735.hp2 HG03491.hp1 HG03492.hp2 others(2): Show |
intron_variant | MODIFIER | c.2119+2652T>C | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51391729 | |||||||
| chr1:51391835 | C | G | 9 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(6): Show |
9 | HG00642.hp1 HG01109.hp2 HG01257.hp2 others(6): Show |
intron_variant | MODIFIER | c.2119+2546G>C | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51391835 | |||||||
| chr1:51392245 | T | C | 9 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(6): Show |
9 | HG00642.hp1 HG01109.hp2 HG01257.hp2 others(6): Show |
intron_variant | MODIFIER | c.2119+2136A>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51392245 | |||||||
| chr1:51392314 | A | C | 1 | a0001c0002t0001g0100 | 1 | HG01175.hp2 | intron_variant | MODIFIER | c.2119+2067T>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51392314 | |||||||
| chr1:51392336 | T | C | 2 | a0002c0001t0012g0001 a0002c0001t0012g0003 |
2 | HG02257.hp1 HG03139.hp2 |
intron_variant | MODIFIER | c.2119+2045A>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51392336 | |||||||
| chr1:51392386 | C | A | 5 | a0002c0001t0011g0130 a0002c0001t0011g0131 a0002c0001t0011g0132 others(2): Show |
5 | HG01109.hp2 HG02559.hp2 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.2119+1995G>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51392386 | |||||||
| chr1:51392582 | A | T | 14 | a0002c0004t0002g0004 a0002c0004t0002g0005 a0002c0004t0002g0006 others(11): Show |
14 | HG01167.hp2 HG01346.hp1 HG01891.hp1 others(11): Show |
intron_variant | MODIFIER | c.2119+1799T>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51392582 | |||||||
| chr1:51392747 | C | T | 4 | a0002c0001t0008g0120 a0002c0001t0008g0121 a0002c0001t0008g0122 others(1): Show |
4 | HG00738.hp1 HG01516.hp1 HG01517.hp1 others(1): Show |
intron_variant | MODIFIER | c.2119+1634G>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51392747 | |||||||
| chr1:51392778 | C | T | 9 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(6): Show |
9 | HG00642.hp1 HG01109.hp2 HG01257.hp2 others(6): Show |
intron_variant | MODIFIER | c.2119+1603G>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51392778 | |||||||
| chr1:51392779 | G | A | 1 | a0002c0001t0005g0151 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.2119+1602C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51392779 | |||||||
| chr1:51392786 | C | T | 16 | a0002c0001t0005g0139 a0002c0001t0005g0140 a0002c0001t0005g0142 others(13): Show |
16 | HG01109.hp1 HG01175.hp1 HG01884.hp2 others(13): Show |
intron_variant | MODIFIER | c.2119+1595G>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51392786 | |||||||
| chr1:51392830 | T | C | 1 | a0002c0001t0004g0044 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.2119+1551A>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51392830 | |||||||
| chr1:51393044 | A | G | 76 | a0001c0002t0002g0030 a0001c0002t0002g0031 a0001c0002t0017g0033 others(73): Show |
76 | HG00642.hp1 HG00733.hp2 HG00735.hp1 others(73): Show |
intron_variant | MODIFIER | c.2119+1337T>C | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51393044 | |||||||
| chr1:51393225 | C | CT | 7 | a0002c0001t0004g0018 a0002c0001t0004g0019 a0002c0001t0004g0020 others(4): Show |
7 | HG00733.hp2 HG00735.hp1 HG01192.hp1 others(4): Show |
intron_variant | MODIFIER | c.2119+1155dupA | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51393225 | |||||||
| chr1:51393242 | A | T | 1 | a0002c0001t0010g0039 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.2119+1139T>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51393242 | |||||||
| chr1:51393491 | C | T | 1 | a0001c0003t0001g0063 | 1 | HG01952.hp2 | intron_variant | MODIFIER | c.2119+890G>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51393491 | |||||||
| chr1:51393570 | C | T | 13 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(10): Show |
13 | HG00642.hp1 HG00738.hp1 HG01109.hp2 others(10): Show |
intron_variant | MODIFIER | c.2119+811G>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51393570 | |||||||
| chr1:51393615 | C | T | 3 | a0002c0001t0009g0117 a0002c0001t0009g0118 a0002c0001t0009g0119 |
3 | HG00735.hp2 HG03491.hp1 HG03492.hp2 |
intron_variant | MODIFIER | c.2119+766G>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51393615 | |||||||
| chr1:51393773 | T | C | 3 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 |
3 | HG00642.hp1 HG01257.hp2 NA20129.hp2 |
intron_variant | MODIFIER | c.2119+608A>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | 51393773 | |||||||
| chr1:51394604 | C | G | 1 | a0001c0002t0001g0079 | 1 | HG04228.hp2 | intron_variant | MODIFIER | c.2053-157G>C | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 20/24 | chr1 | 51394604 | |||||||
| chr1:51394654 | C | A | 1 | a0001c0003t0001g0094 | 1 | HG00733.hp1 | intron_variant | MODIFIER | c.2053-207G>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 20/24 | chr1 | 51394654 | |||||||
| chr1:51394768 | T | C | 13 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(10): Show |
13 | HG00642.hp1 HG00738.hp1 HG01109.hp2 others(10): Show |
intron_variant | MODIFIER | c.2053-321A>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 20/24 | chr1 | 51394768 | |||||||
| chr1:51394816 | T | C | 5 | a0002c0001t0011g0130 a0002c0001t0011g0131 a0002c0001t0011g0132 others(2): Show |
5 | HG01109.hp2 HG02559.hp2 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.2053-369A>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 20/24 | chr1 | 51394816 | |||||||
| chr1:51394868 | A | G | 2 | a0002c0001t0006g0034 a0002c0001t0006g0035 |
2 | HG03098.hp1 NA18906.hp2 |
intron_variant | MODIFIER | c.2053-421T>C | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 20/24 | chr1 | 51394868 | |||||||
| chr1:51395007 | C | T | 9 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(6): Show |
9 | HG00642.hp1 HG01109.hp2 HG01257.hp2 others(6): Show |
intron_variant | MODIFIER | c.2053-560G>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 20/24 | chr1 | 51395007 | |||||||
| chr1:51395118 | T | C | 9 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(6): Show |
9 | HG00642.hp1 HG01109.hp2 HG01257.hp2 others(6): Show |
intron_variant | MODIFIER | c.2053-671A>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 20/24 | chr1 | 51395118 | |||||||
| chr1:51395438 | T | C | 4 | a0001c0002t0001g0026 a0001c0002t0001g0046 a0001c0002t0001g0047 others(1): Show |
4 | HG00639.hp2 HG02647.hp1 HG02818.hp2 others(1): Show |
intron_variant | MODIFIER | c.2053-991A>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 20/24 | chr1 | 51395438 | |||||||
| chr1:51395487 | C | T | 4 | a0002c0001t0008g0120 a0002c0001t0008g0121 a0002c0001t0008g0122 others(1): Show |
4 | HG00738.hp1 HG01516.hp1 HG01517.hp1 others(1): Show |
intron_variant | MODIFIER | c.2053-1040G>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 20/24 | chr1 | 51395487 | |||||||
| chr1:51395523 | T | TAC | 14 | a0001c0002t0001g0110 a0001c0003t0001g0064 a0001c0003t0001g0065 others(11): Show |
14 | HG00733.hp1 HG00738.hp2 HG00741.hp1 others(11): Show |
intron_variant | MODIFIER | c.2053-1078_2053-107 others(6): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 20/24 | chr1 | 51395523 | |||||||
| chr1:51395652 | A | G | 1 | a0001c0002t0001g0088 | 1 | NA18747.hp2 | intron_variant | MODIFIER | c.2053-1205T>C | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 20/24 | chr1 | 51395652 | |||||||
| chr1:51395698 | T | C | 1 | a0001c0002t0001g0100 | 1 | HG01175.hp2 | intron_variant | MODIFIER | c.2053-1251A>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 20/24 | chr1 | 51395698 | |||||||
| chr1:51395838 | G | A | 5 | a0001c0003t0001g0065 a0001c0003t0001g0066 a0001c0003t0001g0068 others(2): Show |
5 | HG00741.hp1 HG01074.hp2 HG02735.hp1 others(2): Show |
intron_variant | MODIFIER | c.2053-1391C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 20/24 | chr1 | 51395838 | |||||||
| chr1:51395873 | T | C | 4 | a0002c0001t0008g0120 a0002c0001t0008g0121 a0002c0001t0008g0122 others(1): Show |
4 | HG00738.hp1 HG01516.hp1 HG01517.hp1 others(1): Show |
intron_variant | MODIFIER | c.2053-1426A>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 20/24 | chr1 | 51395873 | |||||||
| chr1:51395986 | G | A | 5 | a0002c0001t0011g0130 a0002c0001t0011g0131 a0002c0001t0011g0132 others(2): Show |
5 | HG01109.hp2 HG02559.hp2 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.2053-1539C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 20/24 | chr1 | 51395986 | |||||||
| chr1:51396087 | C | CT | 2 | a0002c0001t0004g0042 a0002c0001t0004g0043 |
2 | HG02630.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.2053-1641dupA | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 20/24 | chr1 | 51396087 | |||||||
| chr1:51396151 | CACTA | C | 4 | a0002c0001t0008g0120 a0002c0001t0008g0121 a0002c0001t0008g0122 others(1): Show |
4 | HG00738.hp1 HG01516.hp1 HG01517.hp1 others(1): Show |
intron_variant | MODIFIER | c.2053-1708_2053-170 others(8): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 20/24 | chr1 | 51396151 | |||||||
| chr1:51396211 | T | C | 1 | a0009c0009t0015g0125 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.2053-1764A>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 20/24 | chr1 | 51396211 | |||||||
| chr1:51396722 | T | G | 4 | a0002c0001t0008g0120 a0002c0001t0008g0121 a0002c0001t0008g0122 others(1): Show |
4 | HG00738.hp1 HG01516.hp1 HG01517.hp1 others(1): Show |
intron_variant | MODIFIER | c.2053-2275A>C | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 20/24 | chr1 | 51396722 | |||||||
| chr1:51396742 | A | G | 3 | a0002c0001t0009g0117 a0002c0001t0009g0118 a0002c0001t0009g0119 |
3 | HG00735.hp2 HG03491.hp1 HG03492.hp2 |
intron_variant | MODIFIER | c.2052+2290T>C | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 20/24 | chr1 | 51396742 | |||||||
| chr1:51396907 | A | C | 1 | a0001c0002t0002g0031 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.2052+2125T>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 20/24 | chr1 | 51396907 | |||||||
| chr1:51397045 | A | G | 1 | a0007c0008t0002g0032 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.2052+1987T>C | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 20/24 | chr1 | 51397045 | |||||||
| chr1:51397514 | T | A | 1 | a0002c0004t0002g0015 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.2052+1518A>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 20/24 | chr1 | 51397514 | |||||||
| chr1:51397581 | T | C | 1 | a0002c0001t0014g0037 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.2052+1451A>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 20/24 | chr1 | 51397581 | |||||||
| chr1:51397649 | G | A | 8 | a0002c0001t0004g0018 a0002c0001t0004g0019 a0002c0001t0004g0020 others(5): Show |
8 | HG00733.hp2 HG00735.hp1 HG01192.hp1 others(5): Show |
intron_variant | MODIFIER | c.2052+1383C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 20/24 | chr1 | 51397649 | |||||||
| chr1:51397685 | C | T | 16 | a0002c0001t0005g0139 a0002c0001t0005g0140 a0002c0001t0005g0142 others(13): Show |
16 | HG01109.hp1 HG01175.hp1 HG01884.hp2 others(13): Show |
intron_variant | MODIFIER | c.2052+1347G>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 20/24 | chr1 | 51397685 | |||||||
| chr1:51398023 | TTGAG | T | 4 | a0002c0001t0008g0120 a0002c0001t0008g0121 a0002c0001t0008g0122 others(1): Show |
4 | HG00738.hp1 HG01516.hp1 HG01517.hp1 others(1): Show |
intron_variant | MODIFIER | c.2052+1005_2052+100 others(8): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 20/24 | chr1 | 51398023 | |||||||
| chr1:51398054 | A | AT | 7 | a0002c0001t0006g0034 a0002c0001t0006g0035 a0002c0001t0011g0130 others(4): Show |
7 | HG01109.hp2 HG02559.hp2 HG03098.hp1 others(4): Show |
intron_variant | MODIFIER | c.2052+977dupA | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 20/24 | chr1 | 51398054 | |||||||
| chr1:51398122 | C | T | 14 | a0002c0001t0005g0139 a0002c0001t0005g0140 a0002c0001t0005g0142 others(11): Show |
14 | HG01109.hp1 HG01175.hp1 HG01884.hp2 others(11): Show |
intron_variant | MODIFIER | c.2052+910G>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 20/24 | chr1 | 51398122 | |||||||
| chr1:51398515 | CACCAGT | C | 9 | a0002c0001t0006g0027 a0002c0001t0006g0029 a0002c0001t0006g0034 others(6): Show |
9 | HG02257.hp1 HG02572.hp1 HG03041.hp1 others(6): Show |
intron_variant | MODIFIER | c.2052+511_2052+516d others(8): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 20/24 | chr1 | 51398515 | |||||||
| chr1:51399505 | T | C | 14 | a0002c0001t0005g0139 a0002c0001t0005g0140 a0002c0001t0005g0142 others(11): Show |
14 | HG01109.hp1 HG01175.hp1 HG01884.hp2 others(11): Show |
intron_variant | MODIFIER | c.1919-340A>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 19/24 | chr1 | 51399505 | |||||||
| chr1:51399526 | G | A | 2 | a0002c0001t0012g0001 a0002c0001t0012g0003 |
2 | HG02257.hp1 HG03139.hp2 |
intron_variant | MODIFIER | c.1919-361C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 19/24 | chr1 | 51399526 | |||||||
| chr1:51399633 | C | T | 5 | a0002c0001t0006g0027 a0002c0001t0006g0029 a0002c0001t0006g0034 others(2): Show |
5 | HG02572.hp1 HG03041.hp1 HG03098.hp1 others(2): Show |
intron_variant | MODIFIER | c.1919-468G>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 19/24 | chr1 | 51399633 | |||||||
| chr1:51399731 | C | T | 4 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(1): Show |
4 | HG00642.hp1 HG01257.hp2 HG03130.hp1 others(1): Show |
intron_variant | MODIFIER | c.1919-566G>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 19/24 | chr1 | 51399731 | |||||||
| chr1:51399861 | A | C | 3 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 |
3 | HG00642.hp1 HG01257.hp2 NA20129.hp2 |
intron_variant | MODIFIER | c.1919-696T>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 19/24 | chr1 | 51399861 | |||||||
| chr1:51400180 | C | A | 3 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 |
3 | HG00642.hp1 HG01257.hp2 NA20129.hp2 |
intron_variant | MODIFIER | c.1918+738G>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 19/24 | chr1 | 51400180 | |||||||
| chr1:51400305 | T | C | 3 | a0002c0001t0009g0117 a0002c0001t0009g0118 a0002c0001t0009g0119 |
3 | HG00735.hp2 HG03491.hp1 HG03492.hp2 |
intron_variant | MODIFIER | c.1918+613A>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 19/24 | chr1 | 51400305 | |||||||
| chr1:51400702 | C | CA | 9 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(6): Show |
9 | HG00642.hp1 HG01109.hp2 HG01257.hp2 others(6): Show |
intron_variant | MODIFIER | c.1918+215dupT | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 19/24 | chr1 | 51400702 | |||||||
| chr1:51400712 | C | CA | 33 | a0001c0002t0001g0104 a0001c0002t0001g0105 a0001c0002t0003g0072 others(30): Show |
33 | HG00639.hp1 HG00735.hp1 HG01109.hp1 others(30): Show |
intron_variant | MODIFIER | c.1918+205dupT | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 19/24 | chr1 | 51400712 | |||||||
| chr1:51400712 | C | CAA | 9 | a0002c0001t0004g0019 a0002c0001t0004g0020 a0002c0001t0004g0025 others(6): Show |
9 | HG00733.hp2 HG02922.hp2 HG03098.hp1 others(6): Show |
intron_variant | MODIFIER | c.1918+204_1918+205d others(4): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 19/24 | chr1 | 51400712 | |||||||
| chr1:51400712 | C | CAAAAAAA others(3): Show |
4 | a0002c0001t0011g0130 a0002c0001t0011g0131 a0002c0001t0011g0132 others(1): Show |
4 | HG02559.hp2 HG03195.hp1 HG03471.hp2 others(1): Show |
intron_variant | MODIFIER | c.1918+196_1918+205d others(12): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 19/24 | chr1 | 51400712 | |||||||
| chr1:51400712 | C | CAAAAAAA others(4): Show |
1 | a0004c0010t0026g0129 | 1 | HG01109.hp2 | intron_variant | MODIFIER | c.1918+195_1918+205d others(13): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 19/24 | chr1 | 51400712 | |||||||
| chr1:51400712 | C | CAAAAAAA others(5): Show |
1 | a0002c0001t0008g0122 | 1 | NA20805.hp2 | intron_variant | MODIFIER | c.1918+194_1918+205d others(14): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 19/24 | chr1 | 51400712 | |||||||
| chr1:51400712 | C | CAAAAAAA others(6): Show |
1 | a0002c0001t0008g0123 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.1918+193_1918+205d others(15): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 19/24 | chr1 | 51400712 | |||||||
| chr1:51400712 | C | CAAAAAAA others(8): Show |
2 | a0002c0001t0008g0120 a0002c0001t0008g0121 |
2 | HG01516.hp1 HG01517.hp1 |
intron_variant | MODIFIER | c.1918+191_1918+205d others(17): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 19/24 | chr1 | 51400712 | |||||||
| chr1:51400712 | CAAAAA | C | 5 | a0002c0004t0002g0007 a0002c0004t0002g0014 a0002c0004t0002g0015 others(2): Show |
5 | HG01891.hp1 HG02486.hp2 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.1918+201_1918+205d others(7): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 19/24 | chr1 | 51400712 | |||||||
| chr1:51400712 | CAAAAAA | C | 7 | a0002c0004t0002g0004 a0002c0004t0002g0005 a0002c0004t0002g0006 others(4): Show |
7 | HG01167.hp2 HG01346.hp1 HG02735.hp2 others(4): Show |
intron_variant | MODIFIER | c.1918+200_1918+205d others(8): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 19/24 | chr1 | 51400712 | |||||||
| chr1:51400789 | ACT | A | 5 | a0002c0001t0011g0130 a0002c0001t0011g0131 a0002c0001t0011g0132 others(2): Show |
5 | HG01109.hp2 HG02559.hp2 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.1918+127_1918+128d others(4): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 19/24 | chr1 | 51400789 | |||||||
| chr1:51401097 | T | C | 2 | a0001c0003t0001g0062 a0001c0003t0001g0091 |
2 | HG01074.hp1 HG01168.hp1 |
intron_variant | MODIFIER | c.1883-144A>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 18/24 | chr1 | 51401097 | |||||||
| chr1:51401154 | G | A | 5 | a0002c0001t0011g0130 a0002c0001t0011g0131 a0002c0001t0011g0132 others(2): Show |
5 | HG01109.hp2 HG02559.hp2 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.1883-201C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 18/24 | chr1 | 51401154 | |||||||
| chr1:51401421 | C | T | 2 | a0001c0002t0001g0101 a0001c0002t0020g0050 |
2 | HG01168.hp2 HG02738.hp1 |
intron_variant | MODIFIER | c.1883-468G>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 18/24 | chr1 | 51401421 | |||||||
| chr1:51401547 | T | C | 1 | a0002c0001t0004g0044 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.1883-594A>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 18/24 | chr1 | 51401547 | |||||||
| chr1:51401840 | T | C | 3 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 |
3 | HG00642.hp1 HG01257.hp2 NA20129.hp2 |
intron_variant | MODIFIER | c.1882+595A>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 18/24 | chr1 | 51401840 | |||||||
| chr1:51401879 | C | T | 2 | a0002c0001t0012g0001 a0002c0001t0012g0003 |
2 | HG02257.hp1 HG03139.hp2 |
intron_variant | MODIFIER | c.1882+556G>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 18/24 | chr1 | 51401879 | |||||||
| chr1:51401889 | A | G | 14 | a0002c0004t0002g0004 a0002c0004t0002g0005 a0002c0004t0002g0006 others(11): Show |
14 | HG01167.hp2 HG01346.hp1 HG01891.hp1 others(11): Show |
intron_variant | MODIFIER | c.1882+546T>C | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 18/24 | chr1 | 51401889 | |||||||
| chr1:51401901 | G | A | 1 | a0001c0002t0001g0128 | 1 | NA19011.hp2 | intron_variant | MODIFIER | c.1882+534C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 18/24 | chr1 | 51401901 | |||||||
| chr1:51402085 | C | T | 1 | a0001c0003t0001g0062 | 1 | HG01168.hp1 | intron_variant | MODIFIER | c.1882+350G>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 18/24 | chr1 | 51402085 | |||||||
| chr1:51402169 | C | CACATACA others(9): Show |
8 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(5): Show |
8 | HG00642.hp1 HG01109.hp2 HG01257.hp2 others(5): Show |
intron_variant | MODIFIER | c.1882+250_1882+265d others(18): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 18/24 | chr1 | 51402169 | |||||||
| chr1:51402391 | C | CT | 14 | a0002c0004t0002g0004 a0002c0004t0002g0005 a0002c0004t0002g0006 others(11): Show |
14 | HG01167.hp2 HG01346.hp1 HG01891.hp1 others(11): Show |
intron_variant | MODIFIER | c.1882+43dupA | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 18/24 | chr1 | 51402391 | |||||||
| chr1:51402864 | T | C | 76 | a0001c0002t0002g0030 a0001c0002t0002g0031 a0001c0002t0017g0033 others(73): Show |
76 | HG00642.hp1 HG00733.hp2 HG00735.hp1 others(73): Show |
intron_variant | MODIFIER | c.1792-339A>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 17/24 | chr1 | 51402864 | |||||||
| chr1:51403000 | A | G | 5 | a0002c0001t0011g0130 a0002c0001t0011g0131 a0002c0001t0011g0132 others(2): Show |
5 | HG01109.hp2 HG02559.hp2 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.1791+419T>C | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 17/24 | chr1 | 51403000 | |||||||
| chr1:51403061 | G | C | 5 | a0002c0001t0011g0130 a0002c0001t0011g0131 a0002c0001t0011g0132 others(2): Show |
5 | HG01109.hp2 HG02559.hp2 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.1791+358C>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 17/24 | chr1 | 51403061 | |||||||
| chr1:51403204 | T | G | 1 | a0002c0001t0004g0025 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.1791+215A>C | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 17/24 | chr1 | 51403204 | |||||||
| chr1:51403332 | T | C | 4 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(1): Show |
4 | HG00642.hp1 HG01257.hp2 HG03130.hp1 others(1): Show |
intron_variant | MODIFIER | c.1791+87A>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 17/24 | chr1 | 51403332 | |||||||
| chr1:51403576 | C | T | 15 | a0002c0001t0004g0018 a0002c0001t0004g0019 a0002c0001t0004g0020 others(12): Show |
15 | HG00733.hp2 HG00735.hp1 HG01192.hp1 others(12): Show |
intron_variant | MODIFIER | c.1678-44G>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 16/24 | chr1 | 51403576 | |||||||
| chr1:51403986 | G | A | 2 | a0001c0002t0001g0126 a0001c0002t0001g0127 |
2 | HG00438.hp1 NA18747.hp1 |
intron_variant | MODIFIER | c.1678-454C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 16/24 | chr1 | 51403986 | |||||||
| chr1:51404069 | G | A | 1 | a0009c0009t0015g0125 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.1678-537C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 16/24 | chr1 | 51404069 | |||||||
| chr1:51404106 | G | C | 20 | a0002c0001t0004g0018 a0002c0001t0004g0019 a0002c0001t0004g0020 others(17): Show |
20 | HG00733.hp2 HG00735.hp1 HG00735.hp2 others(17): Show |
intron_variant | MODIFIER | c.1678-574C>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 16/24 | chr1 | 51404106 | |||||||
| chr1:51404107 | GAGGCCGA others(3): Show |
G | 4 | a0002c0001t0012g0001 a0002c0001t0012g0002 a0002c0001t0012g0003 others(1): Show |
4 | HG02257.hp1 HG03139.hp2 HG03486.hp1 others(1): Show |
intron_variant | MODIFIER | c.1678-585_1678-576d others(12): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 16/24 | chr1 | 51404107 | |||||||
| chr1:51404156 | C | A | 4 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(1): Show |
4 | HG00642.hp1 HG01257.hp2 HG03130.hp1 others(1): Show |
intron_variant | MODIFIER | c.1678-624G>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 16/24 | chr1 | 51404156 | |||||||
| chr1:51404174 | G | A | 4 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(1): Show |
4 | HG00642.hp1 HG01257.hp2 HG03130.hp1 others(1): Show |
intron_variant | MODIFIER | c.1678-642C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 16/24 | chr1 | 51404174 | |||||||
| chr1:51404377 | C | CA | 9 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(6): Show |
9 | HG00642.hp1 HG01109.hp2 HG01257.hp2 others(6): Show |
intron_variant | MODIFIER | c.1678-846dupT | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 16/24 | chr1 | 51404377 | |||||||
| chr1:51404377 | CA | C | 9 | a0002c0001t0006g0027 a0002c0001t0006g0029 a0002c0001t0006g0034 others(6): Show |
9 | HG02257.hp1 HG02572.hp1 HG03041.hp1 others(6): Show |
intron_variant | MODIFIER | c.1678-846delT | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 16/24 | chr1 | 51404377 | |||||||
| chr1:51404403 | C | A | 7 | a0002c0001t0004g0042 a0002c0001t0004g0043 a0002c0001t0004g0044 others(4): Show |
7 | HG02109.hp2 HG02630.hp1 HG02717.hp2 others(4): Show |
intron_variant | MODIFIER | c.1678-871G>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 16/24 | chr1 | 51404403 | |||||||
| chr1:51404853 | A | G | 9 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(6): Show |
9 | HG00642.hp1 HG01109.hp2 HG01257.hp2 others(6): Show |
intron_variant | MODIFIER | c.1677+1052T>C | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 16/24 | chr1 | 51404853 | |||||||
| chr1:51405057 | A | C | 9 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(6): Show |
9 | HG00642.hp1 HG01109.hp2 HG01257.hp2 others(6): Show |
intron_variant | MODIFIER | c.1677+848T>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 16/24 | chr1 | 51405057 | |||||||
| chr1:51405348 | T | A | 2 | a0002c0001t0009g0116 a0002c0001t0022g0115 |
2 | HG06807.hp1 NA19030.hp2 |
intron_variant | MODIFIER | c.1677+557A>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 16/24 | chr1 | 51405348 | |||||||
| chr1:51405348 | TA | T | 4 | a0002c0001t0008g0120 a0002c0001t0008g0121 a0002c0001t0008g0122 others(1): Show |
4 | HG00738.hp1 HG01516.hp1 HG01517.hp1 others(1): Show |
intron_variant | MODIFIER | c.1677+556delT | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 16/24 | chr1 | 51405348 | |||||||
| chr1:51405469 | G | T | 4 | a0002c0001t0008g0120 a0002c0001t0008g0121 a0002c0001t0008g0122 others(1): Show |
4 | HG00738.hp1 HG01516.hp1 HG01517.hp1 others(1): Show |
intron_variant | MODIFIER | c.1677+436C>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 16/24 | chr1 | 51405469 | |||||||
| chr1:51405489 | G | A | 1 | a0002c0001t0009g0116 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.1677+416C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 16/24 | chr1 | 51405489 | |||||||
| chr1:51405505 | T | G | 2 | a0001c0003t0001g0053 a0001c0003t0001g0058 |
2 | HG00642.hp2 HG02258.hp1 |
intron_variant | MODIFIER | c.1677+400A>C | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 16/24 | chr1 | 51405505 | |||||||
| chr1:51405699 | C | CA | 31 | a0001c0002t0001g0051 a0001c0002t0001g0056 a0001c0002t0001g0075 others(28): Show |
31 | HG00558.hp1 HG00558.hp2 HG00639.hp1 others(28): Show |
intron_variant | MODIFIER | c.1677+205dupT | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 16/24 | chr1 | 51405699 | |||||||
| chr1:51405699 | CA | C | 7 | a0002c0001t0004g0042 a0002c0001t0004g0043 a0002c0001t0004g0044 others(4): Show |
7 | HG02109.hp2 HG02630.hp1 HG02717.hp2 others(4): Show |
intron_variant | MODIFIER | c.1677+205delT | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 16/24 | chr1 | 51405699 | |||||||
| chr1:51405766 | G | GACTC | 72 | a0002c0001t0004g0018 a0002c0001t0004g0019 a0002c0001t0004g0020 others(69): Show |
72 | HG00642.hp1 HG00733.hp2 HG00735.hp1 others(69): Show |
intron_variant | MODIFIER | c.1677+135_1677+138d others(6): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 16/24 | chr1 | 51405766 | |||||||
| chr1:51405896 | T | TA | 8 | a0001c0002t0001g0052 a0001c0002t0003g0074 a0001c0002t0003g0078 others(5): Show |
8 | HG02055.hp1 HG02145.hp1 HG02451.hp1 others(5): Show |
splice_region_variant&intron_variant | LOW | c.1677+8dupT | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 16/24 | chr1 | 51405896 | |||||||
| chr1:51406193 | G | A | 1 | a0001c0002t0001g0098 | 1 | HG03688.hp1 | intron_variant | MODIFIER | c.1474-85C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 15/24 | chr1 | 51406193 | |||||||
| chr1:51406294 | G | A | 1 | a0001c0003t0001g0063 | 1 | HG01952.hp2 | intron_variant | MODIFIER | c.1474-186C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 15/24 | chr1 | 51406294 | |||||||
| chr1:51406450 | C | T | 1 | a0002c0004t0002g0014 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.1474-342G>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 15/24 | chr1 | 51406450 | |||||||
| chr1:51406485 | T | G | 2 | a0002c0004t0002g0009 a0002c0004t0002g0010 |
2 | HG02723.hp2 HG06807.hp2 |
intron_variant | MODIFIER | c.1474-377A>C | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 15/24 | chr1 | 51406485 | |||||||
| chr1:51406499 | C | A | 2 | a0002c0001t0012g0001 a0002c0001t0012g0003 |
2 | HG02257.hp1 HG03139.hp2 |
intron_variant | MODIFIER | c.1474-391G>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 15/24 | chr1 | 51406499 | |||||||
| chr1:51406884 | A | G | 7 | a0002c0001t0005g0144 a0002c0001t0005g0145 a0002c0001t0005g0146 others(4): Show |
7 | HG01109.hp1 HG01884.hp2 HG01891.hp2 others(4): Show |
intron_variant | MODIFIER | c.1474-776T>C | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 15/24 | chr1 | 51406884 | |||||||
| chr1:51407572 | T | C | 2 | a0002c0001t0014g0036 a0002c0001t0014g0037 |
2 | HG02451.hp2 HG02976.hp2 |
intron_variant | MODIFIER | c.1473+563A>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 15/24 | chr1 | 51407572 | |||||||
| chr1:51407709 | C | T | 9 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(6): Show |
9 | HG00642.hp1 HG01109.hp2 HG01257.hp2 others(6): Show |
intron_variant | MODIFIER | c.1473+426G>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 15/24 | chr1 | 51407709 | |||||||
| chr1:51407723 | G | T | 9 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(6): Show |
9 | HG00642.hp1 HG01109.hp2 HG01257.hp2 others(6): Show |
intron_variant | MODIFIER | c.1473+412C>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 15/24 | chr1 | 51407723 | |||||||
| chr1:51408670 | A | T | 14 | a0002c0001t0005g0139 a0002c0001t0005g0140 a0002c0001t0005g0142 others(11): Show |
14 | HG01109.hp1 HG01175.hp1 HG01884.hp2 others(11): Show |
intron_variant | MODIFIER | c.1276-338T>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 14/24 | chr1 | 51408670 | |||||||
| chr1:51408797 | A | AT | 60 | a0001c0002t0001g0045 a0001c0003t0001g0061 a0002c0001t0004g0042 others(57): Show |
60 | HG00642.hp1 HG00735.hp2 HG00738.hp1 others(57): Show |
intron_variant | MODIFIER | c.1276-466dupA | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 14/24 | chr1 | 51408797 | |||||||
| chr1:51408797 | A | ATT | 12 | a0002c0001t0004g0018 a0002c0001t0004g0019 a0002c0001t0004g0020 others(9): Show |
12 | HG00733.hp2 HG00735.hp1 HG01175.hp1 others(9): Show |
intron_variant | MODIFIER | c.1276-467_1276-466d others(4): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 14/24 | chr1 | 51408797 | |||||||
| chr1:51408797 | AT | A | 5 | a0001c0003t0001g0066 a0001c0003t0001g0069 a0001c0003t0001g0071 others(2): Show |
5 | HG01074.hp1 HG01074.hp2 HG01167.hp1 others(2): Show |
intron_variant | MODIFIER | c.1276-466delA | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 14/24 | chr1 | 51408797 | |||||||
| chr1:51408907 | C | A | 5 | a0002c0001t0011g0130 a0002c0001t0011g0131 a0002c0001t0011g0132 others(2): Show |
5 | HG01109.hp2 HG02559.hp2 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.1276-575G>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 14/24 | chr1 | 51408907 | |||||||
| chr1:51408920 | C | T | 2 | a0002c0001t0006g0034 a0002c0001t0006g0035 |
2 | HG03098.hp1 NA18906.hp2 |
intron_variant | MODIFIER | c.1276-588G>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 14/24 | chr1 | 51408920 | |||||||
| chr1:51408949 | G | A | 2 | a0002c0001t0009g0116 a0002c0001t0022g0115 |
2 | HG06807.hp1 NA19030.hp2 |
intron_variant | MODIFIER | c.1275+586C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 14/24 | chr1 | 51408949 | |||||||
| chr1:51408956 | C | A | 4 | a0002c0001t0008g0120 a0002c0001t0008g0121 a0002c0001t0008g0122 others(1): Show |
4 | HG00738.hp1 HG01516.hp1 HG01517.hp1 others(1): Show |
intron_variant | MODIFIER | c.1275+579G>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 14/24 | chr1 | 51408956 | |||||||
| chr1:51408973 | T | G | 16 | a0002c0001t0005g0139 a0002c0001t0005g0140 a0002c0001t0005g0142 others(13): Show |
16 | HG01109.hp1 HG01175.hp1 HG01884.hp2 others(13): Show |
intron_variant | MODIFIER | c.1275+562A>C | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 14/24 | chr1 | 51408973 | |||||||
| chr1:51409094 | T | C | 1 | a0001c0002t0003g0086 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.1275+441A>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 14/24 | chr1 | 51409094 | |||||||
| chr1:51409188 | T | C | 4 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(1): Show |
4 | HG00642.hp1 HG01257.hp2 HG03130.hp1 others(1): Show |
intron_variant | MODIFIER | c.1275+347A>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 14/24 | chr1 | 51409188 | |||||||
| chr1:51409315 | C | G | 4 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(1): Show |
4 | HG00642.hp1 HG01257.hp2 HG03130.hp1 others(1): Show |
intron_variant | MODIFIER | c.1275+220G>C | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 14/24 | chr1 | 51409315 | |||||||
| chr1:51409363 | A | G | 2 | a0001c0002t0002g0030 a0001c0002t0002g0031 |
2 | HG02630.hp2 NA19240.hp1 |
intron_variant | MODIFIER | c.1275+172T>C | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 14/24 | chr1 | 51409363 | |||||||
| chr1:51409713 | T | A | 1 | a0007c0008t0002g0032 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.1114-17A>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 13/24 | chr1 | 51409713 | |||||||
| chr1:51410042 | C | T | 1 | a0002c0001t0009g0116 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.1114-346G>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 13/24 | chr1 | 51410042 | |||||||
| chr1:51410118 | A | C | 15 | a0002c0004t0002g0004 a0002c0004t0002g0005 a0002c0004t0002g0006 others(12): Show |
15 | HG01167.hp2 HG01346.hp1 HG01891.hp1 others(12): Show |
intron_variant | MODIFIER | c.1114-422T>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 13/24 | chr1 | 51410118 | |||||||
| chr1:51410133 | G | A | 4 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(1): Show |
4 | HG00642.hp1 HG01257.hp2 HG03130.hp1 others(1): Show |
intron_variant | MODIFIER | c.1114-437C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 13/24 | chr1 | 51410133 | |||||||
| chr1:51410172 | C | T | 5 | a0002c0001t0011g0130 a0002c0001t0011g0131 a0002c0001t0011g0132 others(2): Show |
5 | HG01109.hp2 HG02559.hp2 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.1114-476G>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 13/24 | chr1 | 51410172 | |||||||
| chr1:51410177 | C | T | 8 | a0002c0001t0004g0018 a0002c0001t0004g0019 a0002c0001t0004g0020 others(5): Show |
8 | HG00733.hp2 HG00735.hp1 HG01192.hp1 others(5): Show |
intron_variant | MODIFIER | c.1114-481G>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 13/24 | chr1 | 51410177 | |||||||
| chr1:51410228 | C | CA | 11 | a0002c0001t0004g0042 a0002c0001t0004g0043 a0002c0001t0009g0116 others(8): Show |
11 | HG00735.hp2 HG01109.hp2 HG02559.hp2 others(8): Show |
intron_variant | MODIFIER | c.1114-533dupT | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 13/24 | chr1 | 51410228 | |||||||
| chr1:51410305 | C | G | 4 | a0001c0002t0001g0026 a0001c0002t0001g0046 a0001c0002t0001g0047 others(1): Show |
4 | HG00639.hp2 HG02647.hp1 HG02818.hp2 others(1): Show |
intron_variant | MODIFIER | c.1114-609G>C | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 13/24 | chr1 | 51410305 | |||||||
| chr1:51410310 | G | A | 1 | a0002c0001t0004g0025 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.1114-614C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 13/24 | chr1 | 51410310 | |||||||
| chr1:51410392 | C | CA | 12 | a0001c0002t0001g0082 a0001c0002t0013g0089 a0001c0003t0001g0065 others(9): Show |
12 | HG00642.hp1 HG00735.hp2 HG00741.hp1 others(9): Show |
intron_variant | MODIFIER | c.1114-697dupT | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 13/24 | chr1 | 51410392 | |||||||
| chr1:51410392 | C | CAA | 16 | a0002c0001t0005g0139 a0002c0001t0005g0140 a0002c0001t0005g0142 others(13): Show |
16 | HG01109.hp1 HG01175.hp1 HG01884.hp2 others(13): Show |
intron_variant | MODIFIER | c.1114-698_1114-697d others(4): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 13/24 | chr1 | 51410392 | |||||||
| chr1:51410491 | G | C | 2 | a0001c0002t0001g0046 a0001c0002t0001g0047 |
2 | HG02647.hp1 HG03471.hp1 |
intron_variant | MODIFIER | c.1114-795C>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 13/24 | chr1 | 51410491 | |||||||
| chr1:51410531 | AT | A | 3 | a0002c0001t0010g0038 a0002c0001t0010g0041 a0002c0007t0010g0040 |
3 | HG02109.hp2 HG02717.hp2 HG03209.hp2 |
intron_variant | MODIFIER | c.1114-836delA | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 13/24 | chr1 | 51410531 | |||||||
| chr1:51410674 | C | T | 2 | a0002c0001t0014g0036 a0002c0001t0014g0037 |
2 | HG02451.hp2 HG02976.hp2 |
intron_variant | MODIFIER | c.1114-978G>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 13/24 | chr1 | 51410674 | |||||||
| chr1:51410711 | A | G | 5 | a0002c0001t0011g0130 a0002c0001t0011g0131 a0002c0001t0011g0132 others(2): Show |
5 | HG01109.hp2 HG02559.hp2 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.1114-1015T>C | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 13/24 | chr1 | 51410711 | |||||||
| chr1:51410827 | T | C | 9 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(6): Show |
9 | HG00642.hp1 HG01109.hp2 HG01257.hp2 others(6): Show |
intron_variant | MODIFIER | c.1114-1131A>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 13/24 | chr1 | 51410827 | |||||||
| chr1:51410882 | G | C | 1 | a0002c0001t0009g0116 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.1114-1186C>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 13/24 | chr1 | 51410882 | |||||||
| chr1:51411077 | C | T | 9 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(6): Show |
9 | HG00642.hp1 HG01109.hp2 HG01257.hp2 others(6): Show |
intron_variant | MODIFIER | c.1114-1381G>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 13/24 | chr1 | 51411077 | |||||||
| chr1:51411110 | T | C | 4 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(1): Show |
4 | HG00642.hp1 HG01257.hp2 HG03130.hp1 others(1): Show |
intron_variant | MODIFIER | c.1114-1414A>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 13/24 | chr1 | 51411110 | |||||||
| chr1:51411258 | G | T | 2 | a0001c0002t0003g0086 a0001c0002t0003g0090 |
2 | HG02559.hp1 HG02723.hp1 |
intron_variant | MODIFIER | c.1114-1562C>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 13/24 | chr1 | 51411258 | |||||||
| chr1:51411799 | C | T | 1 | a0001c0002t0003g0085 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.1114-2103G>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 13/24 | chr1 | 51411799 | |||||||
| chr1:51411800 | G | A | 5 | a0002c0001t0011g0130 a0002c0001t0011g0131 a0002c0001t0011g0132 others(2): Show |
5 | HG01109.hp2 HG02559.hp2 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.1114-2104C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 13/24 | chr1 | 51411800 | |||||||
| chr1:51411918 | T | C | 9 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(6): Show |
9 | HG00642.hp1 HG01109.hp2 HG01257.hp2 others(6): Show |
intron_variant | MODIFIER | c.1114-2222A>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 13/24 | chr1 | 51411918 | |||||||
| chr1:51412042 | C | G | 9 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(6): Show |
9 | HG00642.hp1 HG01109.hp2 HG01257.hp2 others(6): Show |
intron_variant | MODIFIER | c.1114-2346G>C | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 13/24 | chr1 | 51412042 | |||||||
| chr1:51412996 | G | A | 5 | a0002c0001t0011g0130 a0002c0001t0011g0131 a0002c0001t0011g0132 others(2): Show |
5 | HG01109.hp2 HG02559.hp2 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.1114-3300C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 13/24 | chr1 | 51412996 | |||||||
| chr1:51413080 | T | A | 9 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(6): Show |
9 | HG00642.hp1 HG01109.hp2 HG01257.hp2 others(6): Show |
intron_variant | MODIFIER | c.1114-3384A>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 13/24 | chr1 | 51413080 | |||||||
| chr1:51413113 | T | C | 4 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(1): Show |
4 | HG00642.hp1 HG01257.hp2 HG03130.hp1 others(1): Show |
intron_variant | MODIFIER | c.1114-3417A>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 13/24 | chr1 | 51413113 | |||||||
| chr1:51413197 | A | T | 4 | a0002c0001t0008g0120 a0002c0001t0008g0121 a0002c0001t0008g0122 others(1): Show |
4 | HG00738.hp1 HG01516.hp1 HG01517.hp1 others(1): Show |
intron_variant | MODIFIER | c.1114-3501T>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 13/24 | chr1 | 51413197 | |||||||
| chr1:51413322 | G | A | 9 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(6): Show |
9 | HG00642.hp1 HG01109.hp2 HG01257.hp2 others(6): Show |
intron_variant | MODIFIER | c.1114-3626C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 13/24 | chr1 | 51413322 | |||||||
| chr1:51413361 | A | G | 4 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(1): Show |
4 | HG00642.hp1 HG01257.hp2 HG03130.hp1 others(1): Show |
intron_variant | MODIFIER | c.1114-3665T>C | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 13/24 | chr1 | 51413361 | |||||||
| chr1:51413441 | A | G | 5 | a0002c0001t0011g0130 a0002c0001t0011g0131 a0002c0001t0011g0132 others(2): Show |
5 | HG01109.hp2 HG02559.hp2 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.1114-3745T>C | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 13/24 | chr1 | 51413441 | |||||||
| chr1:51413610 | C | T | 1 | a0001c0002t0001g0077 | 1 | HG00558.hp1 | intron_variant | MODIFIER | c.1114-3914G>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 13/24 | chr1 | 51413610 | |||||||
| chr1:51413727 | T | C | 4 | a0001c0002t0001g0026 a0001c0002t0001g0046 a0001c0002t0001g0047 others(1): Show |
4 | HG00639.hp2 HG02647.hp1 HG02818.hp2 others(1): Show |
intron_variant | MODIFIER | c.1114-4031A>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 13/24 | chr1 | 51413727 | |||||||
| chr1:51413893 | C | A | 9 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(6): Show |
9 | HG00642.hp1 HG01109.hp2 HG01257.hp2 others(6): Show |
intron_variant | MODIFIER | c.1114-4197G>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 13/24 | chr1 | 51413893 | |||||||
| chr1:51413965 | G | A | 2 | a0002c0001t0004g0022 a0002c0001t0004g0023 |
2 | HG01515.hp2 HG01517.hp2 |
intron_variant | MODIFIER | c.1114-4269C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 13/24 | chr1 | 51413965 | |||||||
| chr1:51413996 | C | T | 5 | a0002c0001t0011g0130 a0002c0001t0011g0131 a0002c0001t0011g0132 others(2): Show |
5 | HG01109.hp2 HG02559.hp2 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.1114-4300G>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 13/24 | chr1 | 51413996 | |||||||
| chr1:51414002 | G | T | 2 | a0002c0001t0009g0116 a0002c0001t0022g0115 |
2 | HG06807.hp1 NA19030.hp2 |
intron_variant | MODIFIER | c.1114-4306C>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 13/24 | chr1 | 51414002 | |||||||
| chr1:51414182 | C | T | 1 | a0001c0002t0001g0082 | 1 | HG01261.hp2 | intron_variant | MODIFIER | c.1114-4486G>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 13/24 | chr1 | 51414182 | |||||||
| chr1:51414299 | G | A | 4 | a0002c0001t0008g0120 a0002c0001t0008g0121 a0002c0001t0008g0122 others(1): Show |
4 | HG00738.hp1 HG01516.hp1 HG01517.hp1 others(1): Show |
intron_variant | MODIFIER | c.1114-4603C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 13/24 | chr1 | 51414299 | |||||||
| chr1:51414403 | T | A | 14 | a0002c0004t0002g0004 a0002c0004t0002g0005 a0002c0004t0002g0006 others(11): Show |
14 | HG01167.hp2 HG01346.hp1 HG01891.hp1 others(11): Show |
intron_variant | MODIFIER | c.1114-4707A>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 13/24 | chr1 | 51414403 | |||||||
| chr1:51414615 | T | C | 3 | a0002c0001t0012g0001 a0002c0001t0012g0002 a0002c0001t0012g0003 |
3 | HG02257.hp1 HG03139.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.1114-4919A>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 13/24 | chr1 | 51414615 | |||||||
| chr1:51414687 | G | C | 4 | a0002c0001t0008g0120 a0002c0001t0008g0121 a0002c0001t0008g0122 others(1): Show |
4 | HG00738.hp1 HG01516.hp1 HG01517.hp1 others(1): Show |
intron_variant | MODIFIER | c.1114-4991C>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 13/24 | chr1 | 51414687 | |||||||
| chr1:51415530 | C | T | 14 | a0002c0004t0002g0004 a0002c0004t0002g0005 a0002c0004t0002g0006 others(11): Show |
14 | HG01167.hp2 HG01346.hp1 HG01891.hp1 others(11): Show |
intron_variant | MODIFIER | c.1114-5834G>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 13/24 | chr1 | 51415530 | |||||||
| chr1:51415568 | T | C | 1 | a0001c0002t0001g0077 | 1 | HG00558.hp1 | intron_variant | MODIFIER | c.1114-5872A>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 13/24 | chr1 | 51415568 | |||||||
| chr1:51415581 | G | C | 4 | a0002c0001t0010g0038 a0002c0001t0010g0039 a0002c0001t0010g0041 others(1): Show |
4 | HG02109.hp2 HG02717.hp2 HG02818.hp1 others(1): Show |
intron_variant | MODIFIER | c.1114-5885C>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 13/24 | chr1 | 51415581 | |||||||
| chr1:51415685 | A | G | 9 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(6): Show |
9 | HG00642.hp1 HG01109.hp2 HG01257.hp2 others(6): Show |
intron_variant | MODIFIER | c.1114-5989T>C | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 13/24 | chr1 | 51415685 | |||||||
| chr1:51415691 | G | A | 3 | a0002c0001t0010g0038 a0002c0001t0010g0041 a0002c0007t0010g0040 |
3 | HG02109.hp2 HG02717.hp2 HG03209.hp2 |
intron_variant | MODIFIER | c.1114-5995C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 13/24 | chr1 | 51415691 | |||||||
| chr1:51415792 | G | A | 1 | a0007c0008t0002g0032 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.1113+5994C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 13/24 | chr1 | 51415792 | |||||||
| chr1:51415796 | CA | C | 21 | a0001c0002t0001g0056 a0001c0002t0001g0098 a0001c0002t0001g0100 others(18): Show |
21 | HG00639.hp1 HG00738.hp1 HG01168.hp1 others(18): Show |
intron_variant | MODIFIER | c.1113+5989delT | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 13/24 | chr1 | 51415796 | |||||||
| chr1:51415796 | CAA | C | 40 | a0001c0002t0001g0051 a0001c0002t0001g0052 a0001c0002t0001g0060 others(37): Show |
40 | HG00438.hp1 HG00438.hp2 HG00738.hp2 others(37): Show |
intron_variant | MODIFIER | c.1113+5988_1113+598 others(6): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 13/24 | chr1 | 51415796 | |||||||
| chr1:51415796 | CAAA | C | 23 | a0001c0002t0001g0045 a0001c0002t0001g0077 a0001c0002t0001g0088 others(20): Show |
23 | HG00558.hp1 HG00558.hp2 HG00642.hp2 others(20): Show |
intron_variant | MODIFIER | c.1113+5987_1113+598 others(7): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 13/24 | chr1 | 51415796 | |||||||
| chr1:51415796 | CAAAA | C | 20 | a0001c0002t0001g0026 a0001c0002t0001g0046 a0001c0002t0001g0047 others(17): Show |
20 | HG00639.hp2 HG01109.hp1 HG01346.hp1 others(17): Show |
intron_variant | MODIFIER | c.1113+5986_1113+598 others(8): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 13/24 | chr1 | 51415796 | |||||||
| chr1:51415796 | CAAAAA | C | 14 | a0002c0001t0006g0029 a0002c0001t0009g0118 a0002c0001t0009g0119 others(11): Show |
14 | HG00735.hp2 HG01891.hp1 HG02257.hp1 others(11): Show |
intron_variant | MODIFIER | c.1113+5985_1113+598 others(9): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 13/24 | chr1 | 51415796 | |||||||
| chr1:51415796 | CAAAAAAA others(3): Show |
C | 5 | a0002c0001t0011g0130 a0002c0001t0011g0131 a0002c0001t0011g0132 others(2): Show |
5 | HG01109.hp2 HG02559.hp2 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.1113+5980_1113+598 others(14): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 13/24 | chr1 | 51415796 | |||||||
| chr1:51415796 | CAAAAAAA others(4): Show |
C | 3 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0008c0012t0007g0136 |
3 | HG00642.hp1 HG03130.hp1 NA20129.hp2 |
intron_variant | MODIFIER | c.1113+5979_1113+598 others(15): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 13/24 | chr1 | 51415796 | |||||||
| chr1:51415796 | CAAAAAAA others(5): Show |
C | 1 | a0002c0001t0007g0135 | 1 | HG01257.hp2 | intron_variant | MODIFIER | c.1113+5978_1113+598 others(16): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 13/24 | chr1 | 51415796 | |||||||
| chr1:51415796 | CAAAAAAA others(11): Show |
C | 1 | a0002c0001t0009g0116 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.1113+5972_1113+598 others(22): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 13/24 | chr1 | 51415796 | |||||||
| chr1:51415796 | CAAAAAAA others(15): Show |
C | 1 | a0002c0001t0024g0141 | 1 | HG01175.hp1 | intron_variant | MODIFIER | c.1113+5968_1113+598 others(26): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 13/24 | chr1 | 51415796 | |||||||
| chr1:51415988 | A | G | 4 | a0001c0002t0001g0026 a0001c0002t0001g0046 a0001c0002t0001g0047 others(1): Show |
4 | HG00639.hp2 HG02647.hp1 HG02818.hp2 others(1): Show |
intron_variant | MODIFIER | c.1113+5798T>C | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 13/24 | chr1 | 51415988 | |||||||
| chr1:51416114 | G | A | 3 | a0001c0002t0003g0072 a0001c0002t0003g0073 a0001c0002t0003g0087 |
3 | HG02647.hp2 HG03130.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.1113+5672C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 13/24 | chr1 | 51416114 | |||||||
| chr1:51416216 | C | T | 4 | a0002c0001t0008g0120 a0002c0001t0008g0121 a0002c0001t0008g0122 others(1): Show |
4 | HG00738.hp1 HG01516.hp1 HG01517.hp1 others(1): Show |
intron_variant | MODIFIER | c.1113+5570G>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 13/24 | chr1 | 51416216 | |||||||
| chr1:51416538 | A | C | 1 | a0002c0001t0014g0036 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.1113+5248T>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 13/24 | chr1 | 51416538 | |||||||
| chr1:51417067 | A | G | 2 | a0002c0001t0004g0042 a0002c0001t0004g0043 |
2 | HG02630.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.1113+4719T>C | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 13/24 | chr1 | 51417067 | |||||||
| chr1:51417781 | T | G | 13 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(10): Show |
13 | HG00642.hp1 HG00738.hp1 HG01109.hp2 others(10): Show |
intron_variant | MODIFIER | c.1113+4005A>C | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 13/24 | chr1 | 51417781 | |||||||
| chr1:51418499 | G | A | 5 | a0002c0001t0011g0130 a0002c0001t0011g0131 a0002c0001t0011g0132 others(2): Show |
5 | HG01109.hp2 HG02559.hp2 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.1113+3287C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 13/24 | chr1 | 51418499 | |||||||
| chr1:51418658 | A | G | 4 | a0002c0001t0012g0001 a0002c0001t0012g0002 a0002c0001t0012g0003 others(1): Show |
4 | HG02257.hp1 HG03139.hp2 HG03486.hp1 others(1): Show |
intron_variant | MODIFIER | c.1113+3128T>C | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 13/24 | chr1 | 51418658 | |||||||
| chr1:51418669 | G | C | 2 | a0002c0001t0004g0042 a0002c0001t0004g0043 |
2 | HG02630.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.1113+3117C>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 13/24 | chr1 | 51418669 | |||||||
| chr1:51418711 | T | C | 23 | a0002c0001t0006g0027 a0002c0001t0006g0029 a0002c0001t0006g0034 others(20): Show |
23 | HG01167.hp2 HG01346.hp1 HG01891.hp1 others(20): Show |
intron_variant | MODIFIER | c.1113+3075A>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 13/24 | chr1 | 51418711 | |||||||
| chr1:51419091 | A | C | 14 | a0002c0004t0002g0004 a0002c0004t0002g0005 a0002c0004t0002g0006 others(11): Show |
14 | HG01167.hp2 HG01346.hp1 HG01891.hp1 others(11): Show |
intron_variant | MODIFIER | c.1113+2695T>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 13/24 | chr1 | 51419091 | |||||||
| chr1:51419172 | C | T | 2 | a0002c0001t0009g0116 a0002c0001t0022g0115 |
2 | HG06807.hp1 NA19030.hp2 |
intron_variant | MODIFIER | c.1113+2614G>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 13/24 | chr1 | 51419172 | |||||||
| chr1:51419213 | A | G | 1 | a0001c0002t0001g0026 | 1 | HG00639.hp2 | intron_variant | MODIFIER | c.1113+2573T>C | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 13/24 | chr1 | 51419213 | |||||||
| chr1:51419280 | C | A | 3 | a0002c0001t0008g0120 a0002c0001t0008g0121 a0002c0001t0008g0123 |
3 | HG00738.hp1 HG01516.hp1 HG01517.hp1 |
intron_variant | MODIFIER | c.1113+2506G>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 13/24 | chr1 | 51419280 | |||||||
| chr1:51419476 | T | C | 7 | a0002c0001t0005g0144 a0002c0001t0005g0145 a0002c0001t0005g0146 others(4): Show |
7 | HG01109.hp1 HG01884.hp2 HG01891.hp2 others(4): Show |
intron_variant | MODIFIER | c.1113+2310A>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 13/24 | chr1 | 51419476 | |||||||
| chr1:51419690 | C | A | 1 | a0002c0001t0009g0116 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.1113+2096G>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 13/24 | chr1 | 51419690 | |||||||
| chr1:51420371 | G | A | 1 | a0002c0001t0009g0116 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.1113+1415C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 13/24 | chr1 | 51420371 | |||||||
| chr1:51420746 | A | C | 5 | a0002c0001t0011g0130 a0002c0001t0011g0131 a0002c0001t0011g0132 others(2): Show |
5 | HG01109.hp2 HG02559.hp2 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.1113+1040T>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 13/24 | chr1 | 51420746 | |||||||
| chr1:51420808 | C | T | 1 | a0002c0001t0012g0002 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.1113+978G>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 13/24 | chr1 | 51420808 | |||||||
| chr1:51420964 | T | C | 4 | a0002c0001t0008g0120 a0002c0001t0008g0121 a0002c0001t0008g0122 others(1): Show |
4 | HG00738.hp1 HG01516.hp1 HG01517.hp1 others(1): Show |
intron_variant | MODIFIER | c.1113+822A>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 13/24 | chr1 | 51420964 | |||||||
| chr1:51421083 | CTAAG | C | 5 | a0002c0001t0011g0130 a0002c0001t0011g0131 a0002c0001t0011g0132 others(2): Show |
5 | HG01109.hp2 HG02559.hp2 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.1113+699_1113+702d others(6): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 13/24 | chr1 | 51421083 | |||||||
| chr1:51421413 | T | TTGA | 5 | a0001c0003t0001g0059 a0002c0001t0004g0042 a0002c0001t0004g0043 others(2): Show |
5 | HG01884.hp1 HG02630.hp1 HG03098.hp1 others(2): Show |
intron_variant | MODIFIER | c.1113+370_1113+372d others(5): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 13/24 | chr1 | 51421413 | |||||||
| chr1:51421448 | A | G | 9 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(6): Show |
9 | HG00642.hp1 HG01109.hp2 HG01257.hp2 others(6): Show |
intron_variant | MODIFIER | c.1113+338T>C | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 13/24 | chr1 | 51421448 | |||||||
| chr1:51421495 | T | C | 5 | a0002c0001t0011g0130 a0002c0001t0011g0131 a0002c0001t0011g0132 others(2): Show |
5 | HG01109.hp2 HG02559.hp2 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.1113+291A>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 13/24 | chr1 | 51421495 | |||||||
| chr1:51422046 | TA | T | 9 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(6): Show |
9 | HG00642.hp1 HG01109.hp2 HG01257.hp2 others(6): Show |
intron_variant | MODIFIER | c.1041-189delT | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 12/24 | chr1 | 51422046 | |||||||
| chr1:51422482 | T | C | 14 | a0002c0004t0002g0004 a0002c0004t0002g0005 a0002c0004t0002g0006 others(11): Show |
14 | HG01167.hp2 HG01346.hp1 HG01891.hp1 others(11): Show |
intron_variant | MODIFIER | c.1041-624A>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 12/24 | chr1 | 51422482 | |||||||
| chr1:51422551 | G | A | 5 | a0002c0001t0009g0116 a0002c0001t0009g0117 a0002c0001t0009g0118 others(2): Show |
5 | HG00735.hp2 HG03491.hp1 HG03492.hp2 others(2): Show |
intron_variant | MODIFIER | c.1041-693C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 12/24 | chr1 | 51422551 | |||||||
| chr1:51422597 | C | G | 1 | a0001c0002t0001g0075 | 1 | NA19011.hp1 | intron_variant | MODIFIER | c.1041-739G>C | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 12/24 | chr1 | 51422597 | |||||||
| chr1:51422618 | G | A | 2 | a0002c0001t0004g0042 a0002c0001t0004g0043 |
2 | HG02630.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.1041-760C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 12/24 | chr1 | 51422618 | |||||||
| chr1:51422704 | T | C | 14 | a0002c0004t0002g0004 a0002c0004t0002g0005 a0002c0004t0002g0006 others(11): Show |
14 | HG01167.hp2 HG01346.hp1 HG01891.hp1 others(11): Show |
intron_variant | MODIFIER | c.1041-846A>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 12/24 | chr1 | 51422704 | |||||||
| chr1:51422766 | A | G | 1 | a0001c0002t0001g0103 | 1 | HG03491.hp2 | intron_variant | MODIFIER | c.1041-908T>C | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 12/24 | chr1 | 51422766 | |||||||
| chr1:51423077 | T | C | 4 | a0002c0001t0008g0120 a0002c0001t0008g0121 a0002c0001t0008g0122 others(1): Show |
4 | HG00738.hp1 HG01516.hp1 HG01517.hp1 others(1): Show |
intron_variant | MODIFIER | c.1041-1219A>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 12/24 | chr1 | 51423077 | |||||||
| chr1:51423158 | T | C | 3 | a0002c0001t0006g0027 a0002c0001t0006g0029 a0002c0001t0016g0028 |
3 | HG02572.hp1 HG03041.hp1 NA18522.hp2 |
intron_variant | MODIFIER | c.1041-1300A>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 12/24 | chr1 | 51423158 | |||||||
| chr1:51423191 | C | T | 5 | a0002c0001t0011g0130 a0002c0001t0011g0131 a0002c0001t0011g0132 others(2): Show |
5 | HG01109.hp2 HG02559.hp2 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.1041-1333G>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 12/24 | chr1 | 51423191 | |||||||
| chr1:51423206 | A | G | 5 | a0002c0001t0009g0116 a0002c0001t0009g0117 a0002c0001t0009g0118 others(2): Show |
5 | HG00735.hp2 HG03491.hp1 HG03492.hp2 others(2): Show |
intron_variant | MODIFIER | c.1041-1348T>C | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 12/24 | chr1 | 51423206 | |||||||
| chr1:51423530 | C | A | 9 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(6): Show |
9 | HG00642.hp1 HG01109.hp2 HG01257.hp2 others(6): Show |
intron_variant | MODIFIER | c.1041-1672G>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 12/24 | chr1 | 51423530 | |||||||
| chr1:51423913 | A | G | 4 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(1): Show |
4 | HG00642.hp1 HG01257.hp2 HG03130.hp1 others(1): Show |
intron_variant | MODIFIER | c.1041-2055T>C | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 12/24 | chr1 | 51423913 | |||||||
| chr1:51424151 | CAGA | C | 9 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(6): Show |
9 | HG00642.hp1 HG01109.hp2 HG01257.hp2 others(6): Show |
intron_variant | MODIFIER | c.1041-2296_1041-229 others(7): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 12/24 | chr1 | 51424151 | |||||||
| chr1:51424155 | A | T | 9 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(6): Show |
9 | HG00642.hp1 HG01109.hp2 HG01257.hp2 others(6): Show |
intron_variant | MODIFIER | c.1041-2297T>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 12/24 | chr1 | 51424155 | |||||||
| chr1:51424156 | A | T | 9 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(6): Show |
9 | HG00642.hp1 HG01109.hp2 HG01257.hp2 others(6): Show |
intron_variant | MODIFIER | c.1041-2298T>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 12/24 | chr1 | 51424156 | |||||||
| chr1:51424219 | T | C | 9 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(6): Show |
9 | HG00642.hp1 HG01109.hp2 HG01257.hp2 others(6): Show |
intron_variant | MODIFIER | c.1041-2361A>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 12/24 | chr1 | 51424219 | |||||||
| chr1:51424428 | A | G | 13 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(10): Show |
13 | HG00642.hp1 HG00738.hp1 HG01109.hp2 others(10): Show |
intron_variant | MODIFIER | c.1041-2570T>C | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 12/24 | chr1 | 51424428 | |||||||
| chr1:51424849 | G | A | 1 | a0001c0002t0003g0092 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.1041-2991C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 12/24 | chr1 | 51424849 | |||||||
| chr1:51424953 | C | A | 9 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(6): Show |
9 | HG00642.hp1 HG01109.hp2 HG01257.hp2 others(6): Show |
intron_variant | MODIFIER | c.1041-3095G>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 12/24 | chr1 | 51424953 | |||||||
| chr1:51425028 | A | C | 1 | a0001c0002t0001g0113 | 1 | NA18957.hp1 | intron_variant | MODIFIER | c.1041-3170T>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 12/24 | chr1 | 51425028 | |||||||
| chr1:51425121 | A | C | 4 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(1): Show |
4 | HG00642.hp1 HG01257.hp2 HG03130.hp1 others(1): Show |
intron_variant | MODIFIER | c.1041-3263T>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 12/24 | chr1 | 51425121 | |||||||
| chr1:51425187 | C | T | 14 | a0002c0004t0002g0004 a0002c0004t0002g0005 a0002c0004t0002g0006 others(11): Show |
14 | HG01167.hp2 HG01346.hp1 HG01891.hp1 others(11): Show |
intron_variant | MODIFIER | c.1041-3329G>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 12/24 | chr1 | 51425187 | |||||||
| chr1:51425284 | A | G | 1 | a0007c0008t0002g0032 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.1041-3426T>C | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 12/24 | chr1 | 51425284 | |||||||
| chr1:51425426 | ATCATCT | A | 5 | a0002c0001t0011g0130 a0002c0001t0011g0131 a0002c0001t0011g0132 others(2): Show |
5 | HG01109.hp2 HG02559.hp2 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.1041-3574_1041-356 others(10): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 12/24 | chr1 | 51425426 | |||||||
| chr1:51425465 | C | T | 8 | a0002c0001t0004g0018 a0002c0001t0004g0019 a0002c0001t0004g0020 others(5): Show |
8 | HG00733.hp2 HG00735.hp1 HG01192.hp1 others(5): Show |
intron_variant | MODIFIER | c.1041-3607G>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 12/24 | chr1 | 51425465 | |||||||
| chr1:51426087 | T | C | 14 | a0002c0001t0005g0139 a0002c0001t0005g0140 a0002c0001t0005g0142 others(11): Show |
14 | HG01109.hp1 HG01175.hp1 HG01884.hp2 others(11): Show |
intron_variant | MODIFIER | c.1041-4229A>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 12/24 | chr1 | 51426087 | |||||||
| chr1:51426093 | C | G | 1 | a0002c0001t0004g0044 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.1041-4235G>C | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 12/24 | chr1 | 51426093 | |||||||
| chr1:51426108 | G | A | 1 | a0002c0001t0014g0036 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.1041-4250C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 12/24 | chr1 | 51426108 | |||||||
| chr1:51426161 | C | T | 1 | a0001c0002t0001g0100 | 1 | HG01175.hp2 | intron_variant | MODIFIER | c.1041-4303G>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 12/24 | chr1 | 51426161 | |||||||
| chr1:51426288 | G | A | 1 | a0001c0002t0001g0081 | 1 | HG03492.hp1 | intron_variant | MODIFIER | c.1041-4430C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 12/24 | chr1 | 51426288 | |||||||
| chr1:51426771 | G | A | 1 | a0003c0005t0001g0017 | 1 | NA20752.hp2 | intron_variant | MODIFIER | c.1041-4913C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 12/24 | chr1 | 51426771 | |||||||
| chr1:51426817 | G | GTC | 29 | a0001c0002t0001g0101 a0001c0002t0020g0050 a0002c0001t0004g0042 others(26): Show |
29 | HG01167.hp2 HG01168.hp2 HG01175.hp1 others(26): Show |
intron_variant | MODIFIER | c.1041-4961_1041-496 others(6): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 12/24 | chr1 | 51426817 | |||||||
| chr1:51426817 | G | GTCTC | 12 | a0002c0001t0004g0018 a0002c0001t0004g0019 a0002c0001t0004g0020 others(9): Show |
12 | HG00733.hp2 HG00735.hp1 HG01192.hp1 others(9): Show |
intron_variant | MODIFIER | c.1041-4963_1041-496 others(8): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 12/24 | chr1 | 51426817 | |||||||
| chr1:51426817 | G | GTCTCTCT others(1): Show |
2 | a0002c0001t0007g0134 a0002c0001t0007g0135 |
2 | HG01257.hp2 NA20129.hp2 |
intron_variant | MODIFIER | c.1041-4967_1041-496 others(12): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 12/24 | chr1 | 51426817 | |||||||
| chr1:51426831 | C | T | 3 | a0001c0002t0003g0072 a0001c0002t0003g0073 a0001c0002t0003g0087 |
3 | HG02647.hp2 HG03130.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.1041-4973G>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 12/24 | chr1 | 51426831 | |||||||
| chr1:51426837 | C | CTA | 3 | a0002c0001t0009g0119 a0002c0004t0002g0007 a0002c0004t0002g0010 |
3 | HG00735.hp2 HG01891.hp1 HG02723.hp2 |
intron_variant | MODIFIER | c.1041-4981_1041-498 others(6): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 12/24 | chr1 | 51426837 | |||||||
| chr1:51426837 | C | CTCTCTA | 3 | a0002c0001t0004g0022 a0002c0001t0004g0023 a0002c0001t0022g0115 |
3 | HG01515.hp2 HG01517.hp2 HG06807.hp1 |
intron_variant | MODIFIER | c.1041-4980_1041-497 others(10): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 12/24 | chr1 | 51426837 | |||||||
| chr1:51426837 | C | CTCTCTAT others(3): Show |
3 | a0002c0001t0008g0120 a0002c0001t0008g0121 a0002c0001t0008g0122 |
3 | HG01516.hp1 HG01517.hp1 NA20805.hp2 |
intron_variant | MODIFIER | c.1041-4980_1041-497 others(14): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 12/24 | chr1 | 51426837 | |||||||
| chr1:51426837 | C | CTCTCTCT others(3): Show |
1 | a0002c0001t0008g0123 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.1041-4980_1041-497 others(14): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 12/24 | chr1 | 51426837 | |||||||
| chr1:51426837 | C | CTCTCTCT others(7): Show |
1 | a0008c0012t0007g0136 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.1041-4980_1041-497 others(18): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 12/24 | chr1 | 51426837 | |||||||
| chr1:51426837 | C | CTCTCTCT others(11): Show |
1 | a0010c0015t0011g0152 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.1041-4980_1041-497 others(22): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 12/24 | chr1 | 51426837 | |||||||
| chr1:51426837 | C | CTCTCTCT others(11): Show |
3 | a0002c0001t0011g0131 a0002c0001t0011g0132 a0004c0010t0026g0129 |
3 | HG01109.hp2 HG02559.hp2 HG03195.hp1 |
intron_variant | MODIFIER | c.1041-4980_1041-497 others(22): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 12/24 | chr1 | 51426837 | |||||||
| chr1:51426837 | C | CTCTCTCT others(11): Show |
1 | a0002c0001t0011g0130 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.1041-4980_1041-497 others(22): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 12/24 | chr1 | 51426837 | |||||||
| chr1:51426839 | A | C | 102 | a0001c0002t0001g0026 a0001c0002t0001g0046 a0001c0002t0001g0047 others(99): Show |
102 | HG00438.hp2 HG00558.hp2 HG00639.hp1 others(99): Show |
intron_variant | MODIFIER | c.1041-4981T>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 12/24 | chr1 | 51426839 | |||||||
| chr1:51426841 | A | C | 41 | a0001c0002t0001g0052 a0001c0002t0001g0060 a0001c0002t0001g0082 others(38): Show |
41 | HG00438.hp2 HG00642.hp2 HG00738.hp2 others(38): Show |
intron_variant | MODIFIER | c.1041-4983T>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 12/24 | chr1 | 51426841 | |||||||
| chr1:51426843 | A | C | 16 | a0001c0002t0001g0096 a0001c0002t0001g0098 a0001c0002t0001g0113 others(13): Show |
16 | HG00642.hp2 HG01257.hp1 HG01884.hp1 others(13): Show |
intron_variant | MODIFIER | c.1041-4985T>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 12/24 | chr1 | 51426843 | |||||||
| chr1:51426845 | A | C | 2 | a0003c0005t0001g0017 a0003c0005t0001g0057 |
2 | HG01257.hp1 NA20752.hp2 |
intron_variant | MODIFIER | c.1041-4987T>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 12/24 | chr1 | 51426845 | |||||||
| chr1:51426848 | T | TATATATA others(23): Show |
1 | a0002c0001t0012g0002 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.1041-4991_1041-499 others(34): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 12/24 | chr1 | 51426848 | |||||||
| chr1:51426854 | C | T | 142 | a0001c0002t0001g0026 a0001c0002t0001g0045 a0001c0002t0001g0046 others(139): Show |
142 | HG00438.hp1 HG00438.hp2 HG00558.hp1 others(139): Show |
intron_variant | MODIFIER | c.1041-4996G>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 12/24 | chr1 | 51426854 | |||||||
| chr1:51426856 | C | T | 14 | a0002c0001t0005g0139 a0002c0001t0005g0140 a0002c0001t0005g0142 others(11): Show |
14 | HG01109.hp1 HG01175.hp1 HG01884.hp2 others(11): Show |
intron_variant | MODIFIER | c.1041-4998G>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 12/24 | chr1 | 51426856 | |||||||
| chr1:51426862 | C | CAT | 5 | a0002c0001t0011g0130 a0002c0001t0011g0131 a0002c0001t0011g0132 others(2): Show |
5 | HG01109.hp2 HG02559.hp2 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.1041-5006_1041-500 others(6): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 12/24 | chr1 | 51426862 | |||||||
| chr1:51426864 | T | C | 14 | a0002c0001t0005g0139 a0002c0001t0005g0140 a0002c0001t0005g0142 others(11): Show |
14 | HG01109.hp1 HG01175.hp1 HG01884.hp2 others(11): Show |
intron_variant | MODIFIER | c.1041-5006A>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 12/24 | chr1 | 51426864 | |||||||
| chr1:51426892 | T | C | 1 | a0002c0007t0010g0040 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.1041-5034A>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 12/24 | chr1 | 51426892 | |||||||
| chr1:51426992 | G | A | 4 | a0002c0001t0008g0120 a0002c0001t0008g0121 a0002c0001t0008g0122 others(1): Show |
4 | HG00738.hp1 HG01516.hp1 HG01517.hp1 others(1): Show |
intron_variant | MODIFIER | c.1041-5134C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 12/24 | chr1 | 51426992 | |||||||
| chr1:51427007 | T | C | 14 | a0002c0004t0002g0004 a0002c0004t0002g0005 a0002c0004t0002g0006 others(11): Show |
14 | HG01167.hp2 HG01346.hp1 HG01891.hp1 others(11): Show |
intron_variant | MODIFIER | c.1041-5149A>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 12/24 | chr1 | 51427007 | |||||||
| chr1:51427163 | A | C | 4 | a0002c0001t0008g0120 a0002c0001t0008g0121 a0002c0001t0008g0122 others(1): Show |
4 | HG00738.hp1 HG01516.hp1 HG01517.hp1 others(1): Show |
intron_variant | MODIFIER | c.1041-5305T>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 12/24 | chr1 | 51427163 | |||||||
| chr1:51427266 | G | A | 4 | a0001c0002t0001g0026 a0001c0002t0001g0046 a0001c0002t0001g0047 others(1): Show |
4 | HG00639.hp2 HG02647.hp1 HG02818.hp2 others(1): Show |
intron_variant | MODIFIER | c.1041-5408C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 12/24 | chr1 | 51427266 | |||||||
| chr1:51427400 | C | T | 1 | a0002c0001t0012g0002 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.1041-5542G>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 12/24 | chr1 | 51427400 | |||||||
| chr1:51427447 | TG | T | 4 | a0002c0001t0008g0120 a0002c0001t0008g0121 a0002c0001t0008g0122 others(1): Show |
4 | HG00738.hp1 HG01516.hp1 HG01517.hp1 others(1): Show |
intron_variant | MODIFIER | c.1041-5590delC | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 12/24 | chr1 | 51427447 | |||||||
| chr1:51427481 | A | G | 1 | a0002c0001t0005g0140 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.1041-5623T>C | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 12/24 | chr1 | 51427481 | |||||||
| chr1:51427837 | A | G | 4 | a0002c0001t0010g0038 a0002c0001t0010g0039 a0002c0001t0010g0041 others(1): Show |
4 | HG02109.hp2 HG02717.hp2 HG02818.hp1 others(1): Show |
intron_variant | MODIFIER | c.1041-5979T>C | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 12/24 | chr1 | 51427837 | |||||||
| chr1:51428024 | A | G | 4 | a0002c0001t0011g0130 a0002c0001t0011g0131 a0002c0001t0011g0132 others(1): Show |
4 | HG02559.hp2 HG03195.hp1 HG03471.hp2 others(1): Show |
intron_variant | MODIFIER | c.1041-6166T>C | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 12/24 | chr1 | 51428024 | |||||||
| chr1:51428102 | GA | G | 10 | a0001c0003t0001g0094 a0002c0001t0007g0133 a0002c0001t0007g0134 others(7): Show |
10 | HG00642.hp1 HG00733.hp1 HG01109.hp2 others(7): Show |
intron_variant | MODIFIER | c.1041-6245delT | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 12/24 | chr1 | 51428102 | |||||||
| chr1:51428414 | T | C | 1 | a0002c0001t0016g0028 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.1041-6556A>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 12/24 | chr1 | 51428414 | |||||||
| chr1:51428491 | CAG | C | 16 | a0002c0001t0005g0139 a0002c0001t0005g0140 a0002c0001t0005g0142 others(13): Show |
16 | HG01109.hp1 HG01175.hp1 HG01884.hp2 others(13): Show |
intron_variant | MODIFIER | c.1041-6635_1041-663 others(6): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 12/24 | chr1 | 51428491 | |||||||
| chr1:51428661 | C | T | 13 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(10): Show |
13 | HG00642.hp1 HG00738.hp1 HG01109.hp2 others(10): Show |
intron_variant | MODIFIER | c.1041-6803G>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 12/24 | chr1 | 51428661 | |||||||
| chr1:51428702 | C | G | 3 | a0002c0001t0006g0027 a0002c0001t0006g0029 a0002c0001t0016g0028 |
3 | HG02572.hp1 HG03041.hp1 NA18522.hp2 |
intron_variant | MODIFIER | c.1041-6844G>C | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 12/24 | chr1 | 51428702 | |||||||
| chr1:51428703 | T | G | 3 | a0002c0001t0006g0027 a0002c0001t0006g0029 a0002c0001t0016g0028 |
3 | HG02572.hp1 HG03041.hp1 NA18522.hp2 |
intron_variant | MODIFIER | c.1041-6845A>C | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 12/24 | chr1 | 51428703 | |||||||
| chr1:51428734 | G | C | 3 | a0002c0001t0009g0117 a0002c0001t0009g0118 a0002c0001t0009g0119 |
3 | HG00735.hp2 HG03491.hp1 HG03492.hp2 |
intron_variant | MODIFIER | c.1041-6876C>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 12/24 | chr1 | 51428734 | |||||||
| chr1:51428775 | C | T | 3 | a0002c0001t0006g0027 a0002c0001t0006g0029 a0002c0001t0016g0028 |
3 | HG02572.hp1 HG03041.hp1 NA18522.hp2 |
intron_variant | MODIFIER | c.1041-6917G>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 12/24 | chr1 | 51428775 | |||||||
| chr1:51428812 | G | GCCC | 7 | a0002c0001t0004g0042 a0002c0001t0004g0043 a0002c0001t0004g0044 others(4): Show |
7 | HG02109.hp2 HG02630.hp1 HG02717.hp2 others(4): Show |
intron_variant | MODIFIER | c.1041-6955_1041-695 others(7): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 12/24 | chr1 | 51428812 | |||||||
| chr1:51428826 | C | CA | 12 | a0001c0002t0001g0045 a0001c0002t0001g0082 a0001c0002t0001g0100 others(9): Show |
12 | HG00741.hp1 HG00741.hp2 HG01168.hp2 others(9): Show |
intron_variant | MODIFIER | c.1041-6969dupT | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 12/24 | chr1 | 51428826 | |||||||
| chr1:51428826 | C | CAA | 13 | a0002c0004t0002g0004 a0002c0004t0002g0005 a0002c0004t0002g0006 others(10): Show |
13 | HG01167.hp2 HG01346.hp1 HG01891.hp1 others(10): Show |
intron_variant | MODIFIER | c.1041-6970_1041-696 others(6): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 12/24 | chr1 | 51428826 | |||||||
| chr1:51428826 | CA | C | 13 | a0001c0002t0001g0103 a0001c0002t0003g0049 a0002c0001t0004g0022 others(10): Show |
13 | HG00738.hp1 HG01109.hp2 HG01257.hp1 others(10): Show |
intron_variant | MODIFIER | c.1041-6969delT | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 12/24 | chr1 | 51428826 | |||||||
| chr1:51428826 | CAA | C | 5 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(2): Show |
5 | HG00642.hp1 HG01257.hp2 HG01516.hp1 others(2): Show |
intron_variant | MODIFIER | c.1041-6970_1041-696 others(6): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 12/24 | chr1 | 51428826 | |||||||
| chr1:51428828 | A | G | 1 | a0002c0001t0014g0037 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.1041-6970T>C | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 12/24 | chr1 | 51428828 | |||||||
| chr1:51428871 | G | T | 4 | a0002c0001t0008g0120 a0002c0001t0008g0121 a0002c0001t0008g0122 others(1): Show |
4 | HG00738.hp1 HG01516.hp1 HG01517.hp1 others(1): Show |
intron_variant | MODIFIER | c.1041-7013C>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 12/24 | chr1 | 51428871 | |||||||
| chr1:51429116 | C | G | 2 | a0001c0002t0001g0079 a0001c0002t0001g0110 |
2 | HG04115.hp2 HG04228.hp2 |
intron_variant | MODIFIER | c.1041-7258G>C | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 12/24 | chr1 | 51429116 | |||||||
| chr1:51429347 | CAA | C | 5 | a0002c0001t0011g0130 a0002c0001t0011g0131 a0002c0001t0011g0132 others(2): Show |
5 | HG01109.hp2 HG02559.hp2 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.1041-7491_1041-749 others(6): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 12/24 | chr1 | 51429347 | |||||||
| chr1:51429462 | A | G | 1 | a0001c0002t0001g0101 | 1 | HG01168.hp2 | intron_variant | MODIFIER | c.1041-7604T>C | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 12/24 | chr1 | 51429462 | |||||||
| chr1:51429641 | TG | T | 4 | a0002c0001t0008g0120 a0002c0001t0008g0121 a0002c0001t0008g0122 others(1): Show |
4 | HG00738.hp1 HG01516.hp1 HG01517.hp1 others(1): Show |
intron_variant | MODIFIER | c.1041-7784delC | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 12/24 | chr1 | 51429641 | |||||||
| chr1:51429643 | G | GT | 7 | a0001c0002t0001g0045 a0001c0002t0001g0056 a0001c0002t0003g0084 others(4): Show |
7 | HG01257.hp2 HG02572.hp2 HG03130.hp1 others(4): Show |
intron_variant | MODIFIER | c.1041-7786dupA | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 12/24 | chr1 | 51429643 | |||||||
| chr1:51429643 | GT | G | 57 | a0001c0002t0002g0030 a0001c0002t0002g0031 a0001c0002t0003g0090 others(54): Show |
57 | HG00733.hp2 HG00735.hp1 HG00735.hp2 others(54): Show |
intron_variant | MODIFIER | c.1041-7786delA | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 12/24 | chr1 | 51429643 | |||||||
| chr1:51429643 | GTTTT | G | 6 | a0001c0003t0001g0095 a0002c0001t0011g0130 a0002c0001t0011g0131 others(3): Show |
6 | HG01109.hp2 HG01167.hp1 HG02559.hp2 others(3): Show |
intron_variant | MODIFIER | c.1041-7789_1041-778 others(8): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 12/24 | chr1 | 51429643 | |||||||
| chr1:51429808 | G | A | 1 | a0002c0001t0014g0036 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.1041-7950C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 12/24 | chr1 | 51429808 | |||||||
| chr1:51430159 | T | C | 2 | a0002c0004t0002g0006 a0002c0004t0002g0008 |
2 | HG02738.hp2 HG04199.hp1 |
intron_variant | MODIFIER | c.1041-8301A>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 12/24 | chr1 | 51430159 | |||||||
| chr1:51430195 | A | G | 1 | a0001c0003t0001g0094 | 1 | HG00733.hp1 | intron_variant | MODIFIER | c.1041-8337T>C | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 12/24 | chr1 | 51430195 | |||||||
| chr1:51430536 | C | T | 4 | a0002c0001t0008g0120 a0002c0001t0008g0121 a0002c0001t0008g0122 others(1): Show |
4 | HG00738.hp1 HG01516.hp1 HG01517.hp1 others(1): Show |
intron_variant | MODIFIER | c.1041-8678G>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 12/24 | chr1 | 51430536 | |||||||
| chr1:51430567 | C | CA | 23 | a0001c0002t0001g0048 a0001c0002t0001g0056 a0001c0002t0001g0075 others(20): Show |
23 | HG00735.hp1 HG00735.hp2 HG01109.hp2 others(20): Show |
intron_variant | MODIFIER | c.1041-8710dupT | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 12/24 | chr1 | 51430567 | |||||||
| chr1:51430584 | A | AT | 13 | a0002c0004t0002g0004 a0002c0004t0002g0006 a0002c0004t0002g0007 others(10): Show |
13 | HG01167.hp2 HG01346.hp1 HG01891.hp1 others(10): Show |
intron_variant | MODIFIER | c.1041-8727dupA | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 12/24 | chr1 | 51430584 | |||||||
| chr1:51430717 | A | G | 1 | a0002c0001t0007g0135 | 1 | HG01257.hp2 | intron_variant | MODIFIER | c.1041-8859T>C | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 12/24 | chr1 | 51430717 | |||||||
| chr1:51430727 | G | A | 2 | a0002c0001t0004g0042 a0002c0001t0004g0043 |
2 | HG02630.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.1041-8869C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 12/24 | chr1 | 51430727 | |||||||
| chr1:51430946 | C | T | 6 | a0002c0004t0002g0011 a0002c0004t0002g0012 a0002c0004t0002g0014 others(3): Show |
6 | HG01167.hp2 HG02486.hp2 HG02922.hp1 others(3): Show |
intron_variant | MODIFIER | c.1041-9088G>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 12/24 | chr1 | 51430946 | |||||||
| chr1:51430977 | T | TAC | 6 | a0001c0002t0001g0060 a0001c0002t0001g0096 a0001c0002t0001g0113 others(3): Show |
6 | HG00438.hp2 HG01261.hp1 HG02559.hp1 others(3): Show |
intron_variant | MODIFIER | c.1041-9121_1041-912 others(6): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 12/24 | chr1 | 51430977 | |||||||
| chr1:51430977 | TAC | T | 27 | a0001c0002t0001g0051 a0001c0002t0001g0052 a0001c0002t0001g0056 others(24): Show |
27 | HG00438.hp1 HG00558.hp1 HG01167.hp1 others(24): Show |
intron_variant | MODIFIER | c.1041-9121_1041-912 others(6): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 12/24 | chr1 | 51430977 | |||||||
| chr1:51430977 | TACAC | T | 19 | a0001c0002t0001g0045 a0001c0002t0001g0082 a0001c0002t0001g0097 others(16): Show |
19 | HG00558.hp2 HG00639.hp1 HG00642.hp2 others(16): Show |
intron_variant | MODIFIER | c.1041-9123_1041-912 others(8): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 12/24 | chr1 | 51430977 | |||||||
| chr1:51430977 | TACACAC | T | 23 | a0001c0002t0001g0026 a0001c0002t0001g0046 a0001c0002t0001g0047 others(20): Show |
23 | HG00639.hp2 HG00738.hp1 HG01167.hp2 others(20): Show |
intron_variant | MODIFIER | c.1041-9125_1041-912 others(10): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 12/24 | chr1 | 51430977 | |||||||
| chr1:51430977 | TACACACA others(1): Show |
T | 10 | a0001c0002t0002g0031 a0001c0002t0017g0033 a0001c0003t0001g0094 others(7): Show |
10 | HG00733.hp1 HG02572.hp1 HG02630.hp2 others(7): Show |
intron_variant | MODIFIER | c.1041-9127_1041-912 others(12): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 12/24 | chr1 | 51430977 | |||||||
| chr1:51430977 | TACACACA others(3): Show |
T | 8 | a0002c0001t0010g0038 a0002c0001t0010g0039 a0002c0001t0010g0041 others(5): Show |
8 | HG01257.hp1 HG02109.hp2 HG02257.hp1 others(5): Show |
intron_variant | MODIFIER | c.1041-9129_1041-912 others(14): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 12/24 | chr1 | 51430977 | |||||||
| chr1:51430977 | TACACACA others(5): Show |
T | 2 | a0002c0001t0006g0034 a0002c0001t0006g0035 |
2 | HG03098.hp1 NA18906.hp2 |
intron_variant | MODIFIER | c.1041-9131_1041-912 others(16): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 12/24 | chr1 | 51430977 | |||||||
| chr1:51430981 | C | T | 1 | a0002c0001t0014g0037 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.1041-9123G>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 12/24 | chr1 | 51430981 | |||||||
| chr1:51431009 | CACACACA others(13): Show |
C | 1 | a0002c0001t0022g0115 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.1041-9171_1041-915 others(24): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 12/24 | chr1 | 51431009 | |||||||
| chr1:51431011 | CACACACA others(11): Show |
C | 6 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(3): Show |
6 | HG00642.hp1 HG00735.hp2 HG01257.hp2 others(3): Show |
intron_variant | MODIFIER | c.1041-9171_1041-915 others(22): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 12/24 | chr1 | 51431011 | |||||||
| chr1:51431015 | CACACACA others(7): Show |
C | 1 | a0008c0012t0007g0136 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.1041-9171_1041-915 others(18): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 12/24 | chr1 | 51431015 | |||||||
| chr1:51431017 | CACACACA others(5): Show |
C | 2 | a0002c0001t0005g0148 a0002c0001t0009g0116 |
2 | HG02486.hp1 NA19030.hp2 |
intron_variant | MODIFIER | c.1041-9171_1041-916 others(16): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 12/24 | chr1 | 51431017 | |||||||
| chr1:51431019 | CACACACA others(3): Show |
C | 3 | a0002c0001t0005g0139 a0002c0001t0005g0144 a0005c0011t0025g0138 |
3 | HG02257.hp2 NA19030.hp1 NA20300.hp1 |
intron_variant | MODIFIER | c.1041-9171_1041-916 others(14): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 12/24 | chr1 | 51431019 | |||||||
| chr1:51431021 | CACACACA others(1): Show |
C | 8 | a0002c0001t0005g0145 a0002c0001t0005g0149 a0002c0001t0005g0151 others(5): Show |
8 | HG01109.hp1 HG01884.hp2 HG01891.hp2 others(5): Show |
intron_variant | MODIFIER | c.1041-9171_1041-916 others(12): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 12/24 | chr1 | 51431021 | |||||||
| chr1:51431023 | CACACAA | C | 4 | a0001c0003t0001g0062 a0002c0001t0005g0142 a0002c0001t0023g0150 others(1): Show |
4 | HG01168.hp1 HG01175.hp1 HG02055.hp2 others(1): Show |
intron_variant | MODIFIER | c.1041-9171_1041-916 others(10): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 12/24 | chr1 | 51431023 | |||||||
| chr1:51431025 | CACAA | C | 4 | a0001c0003t0001g0091 a0002c0001t0005g0140 a0002c0001t0005g0146 others(1): Show |
4 | HG01074.hp1 HG01109.hp2 HG02615.hp1 others(1): Show |
intron_variant | MODIFIER | c.1041-9171_1041-916 others(8): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 12/24 | chr1 | 51431025 | |||||||
| chr1:51431027 | C | A | 1 | a0009c0009t0015g0125 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.1041-9169G>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 12/24 | chr1 | 51431027 | |||||||
| chr1:51431027 | CA | C | 3 | a0001c0002t0001g0114 a0001c0002t0013g0089 a0001c0002t0018g0083 |
3 | HG00741.hp2 HG04204.hp1 NA18957.hp2 |
intron_variant | MODIFIER | c.1041-9170delT | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 12/24 | chr1 | 51431027 | |||||||
| chr1:51431028 | A | AC | 2 | a0001c0002t0001g0110 a0001c0003t0001g0069 |
2 | HG04115.hp2 HG04204.hp2 |
intron_variant | MODIFIER | c.1041-9171_1041-917 others(5): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 12/24 | chr1 | 51431028 | |||||||
| chr1:51431029 | A | C | 2 | a0002c0001t0005g0147 a0002c0001t0014g0036 |
2 | HG02976.hp2 HG03486.hp2 |
intron_variant | MODIFIER | c.1041-9171T>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 12/24 | chr1 | 51431029 | |||||||
| chr1:51431113 | TC | T | 3 | a0002c0001t0011g0131 a0002c0001t0011g0132 a0010c0015t0011g0152 |
3 | HG02559.hp2 HG03195.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.1040+9233delG | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 12/24 | chr1 | 51431113 | |||||||
| chr1:51431386 | C | T | 1 | a0001c0003t0001g0061 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.1040+8961G>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 12/24 | chr1 | 51431386 | |||||||
| chr1:51431590 | T | C | 14 | a0002c0004t0002g0004 a0002c0004t0002g0005 a0002c0004t0002g0006 others(11): Show |
14 | HG01167.hp2 HG01346.hp1 HG01891.hp1 others(11): Show |
intron_variant | MODIFIER | c.1040+8757A>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 12/24 | chr1 | 51431590 | |||||||
| chr1:51431905 | T | C | 8 | a0002c0001t0004g0018 a0002c0001t0004g0019 a0002c0001t0004g0020 others(5): Show |
8 | HG00733.hp2 HG00735.hp1 HG01192.hp1 others(5): Show |
intron_variant | MODIFIER | c.1040+8442A>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 12/24 | chr1 | 51431905 | |||||||
| chr1:51432061 | T | C | 4 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(1): Show |
4 | HG00642.hp1 HG01257.hp2 HG03130.hp1 others(1): Show |
intron_variant | MODIFIER | c.1040+8286A>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 12/24 | chr1 | 51432061 | |||||||
| chr1:51432298 | T | TTATG | 29 | a0001c0002t0001g0075 a0001c0002t0001g0077 a0001c0002t0001g0082 others(26): Show |
29 | HG00558.hp1 HG00642.hp2 HG00741.hp2 others(26): Show |
intron_variant | MODIFIER | c.1040+8045_1040+804 others(8): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 12/24 | chr1 | 51432298 | |||||||
| chr1:51432298 | T | TTATGTAT others(1): Show |
2 | a0001c0002t0001g0081 a0002c0001t0007g0133 |
2 | HG00642.hp1 HG03492.hp1 |
intron_variant | MODIFIER | c.1040+8041_1040+804 others(12): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 12/24 | chr1 | 51432298 | |||||||
| chr1:51432298 | TTATG | T | 25 | a0001c0002t0001g0046 a0001c0002t0001g0047 a0001c0002t0001g0079 others(22): Show |
25 | HG01109.hp1 HG01167.hp1 HG01884.hp2 others(22): Show |
intron_variant | MODIFIER | c.1040+8045_1040+804 others(8): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 12/24 | chr1 | 51432298 | |||||||
| chr1:51432298 | TTATGTAT others(1): Show |
T | 20 | a0001c0003t0001g0064 a0002c0001t0006g0029 a0002c0001t0008g0120 others(17): Show |
20 | HG00735.hp2 HG00738.hp1 HG00738.hp2 others(17): Show |
intron_variant | MODIFIER | c.1040+8041_1040+804 others(12): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 12/24 | chr1 | 51432298 | |||||||
| chr1:51432298 | TTATGTAT others(5): Show |
T | 18 | a0001c0003t0001g0111 a0002c0001t0009g0116 a0002c0001t0010g0038 others(15): Show |
18 | HG01167.hp2 HG01346.hp1 HG01891.hp1 others(15): Show |
intron_variant | MODIFIER | c.1040+8037_1040+804 others(16): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 12/24 | chr1 | 51432298 | |||||||
| chr1:51432298 | TTATGTAT others(9): Show |
T | 4 | a0002c0001t0004g0042 a0002c0001t0004g0043 a0002c0001t0004g0044 others(1): Show |
4 | HG02630.hp1 HG03453.hp2 HG06807.hp1 others(1): Show |
intron_variant | MODIFIER | c.1040+8033_1040+804 others(20): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 12/24 | chr1 | 51432298 | |||||||
| chr1:51432346 | G | A | 2 | a0001c0003t0001g0063 a0002c0001t0009g0116 |
2 | HG01952.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.1040+8001C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 12/24 | chr1 | 51432346 | |||||||
| chr1:51432449 | T | C | 1 | a0001c0003t0001g0091 | 1 | HG01074.hp1 | intron_variant | MODIFIER | c.1040+7898A>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 12/24 | chr1 | 51432449 | |||||||
| chr1:51432455 | A | G | 2 | a0002c0001t0004g0042 a0002c0001t0004g0043 |
2 | HG02630.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.1040+7892T>C | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 12/24 | chr1 | 51432455 | |||||||
| chr1:51432587 | A | AT | 78 | a0001c0002t0001g0114 a0001c0002t0002g0030 a0001c0002t0002g0031 others(75): Show |
78 | HG00642.hp1 HG00733.hp2 HG00735.hp1 others(75): Show |
intron_variant | MODIFIER | c.1040+7759dupA | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 12/24 | chr1 | 51432587 | |||||||
| chr1:51432670 | G | A | 4 | a0002c0001t0008g0120 a0002c0001t0008g0121 a0002c0001t0008g0122 others(1): Show |
4 | HG00738.hp1 HG01516.hp1 HG01517.hp1 others(1): Show |
intron_variant | MODIFIER | c.1040+7677C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 12/24 | chr1 | 51432670 | |||||||
| chr1:51432695 | T | C | 1 | a0002c0004t0002g0005 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.1040+7652A>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 12/24 | chr1 | 51432695 | |||||||
| chr1:51433203 | A | T | 8 | a0002c0001t0004g0018 a0002c0001t0004g0019 a0002c0001t0004g0020 others(5): Show |
8 | HG00733.hp2 HG00735.hp1 HG01192.hp1 others(5): Show |
intron_variant | MODIFIER | c.1040+7144T>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 12/24 | chr1 | 51433203 | |||||||
| chr1:51433270 | C | CT | 14 | a0002c0004t0002g0004 a0002c0004t0002g0005 a0002c0004t0002g0006 others(11): Show |
14 | HG01167.hp2 HG01346.hp1 HG01891.hp1 others(11): Show |
intron_variant | MODIFIER | c.1040+7076dupA | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 12/24 | chr1 | 51433270 | |||||||
| chr1:51433561 | T | C | 5 | a0002c0001t0006g0027 a0002c0001t0006g0029 a0002c0001t0006g0034 others(2): Show |
5 | HG02572.hp1 HG03041.hp1 HG03098.hp1 others(2): Show |
intron_variant | MODIFIER | c.1040+6786A>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 12/24 | chr1 | 51433561 | |||||||
| chr1:51433671 | G | A | 2 | a0002c0001t0006g0034 a0002c0001t0006g0035 |
2 | HG03098.hp1 NA18906.hp2 |
intron_variant | MODIFIER | c.1040+6676C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 12/24 | chr1 | 51433671 | |||||||
| chr1:51434241 | T | C | 13 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(10): Show |
13 | HG00642.hp1 HG00738.hp1 HG01109.hp2 others(10): Show |
intron_variant | MODIFIER | c.1040+6106A>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 12/24 | chr1 | 51434241 | |||||||
| chr1:51434403 | A | G | 5 | a0002c0001t0009g0116 a0002c0001t0009g0117 a0002c0001t0009g0118 others(2): Show |
5 | HG00735.hp2 HG03491.hp1 HG03492.hp2 others(2): Show |
intron_variant | MODIFIER | c.1040+5944T>C | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 12/24 | chr1 | 51434403 | |||||||
| chr1:51434452 | C | A | 1 | a0008c0012t0007g0136 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.1040+5895G>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 12/24 | chr1 | 51434452 | |||||||
| chr1:51434654 | C | A | 3 | a0002c0001t0006g0027 a0002c0001t0006g0029 a0002c0001t0016g0028 |
3 | HG02572.hp1 HG03041.hp1 NA18522.hp2 |
intron_variant | MODIFIER | c.1040+5693G>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 12/24 | chr1 | 51434654 | |||||||
| chr1:51434905 | G | A | 2 | a0002c0001t0023g0150 a0002c0001t0024g0141 |
2 | HG01175.hp1 HG02258.hp2 |
intron_variant | MODIFIER | c.1040+5442C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 12/24 | chr1 | 51434905 | |||||||
| chr1:51434957 | C | G | 14 | a0002c0004t0002g0004 a0002c0004t0002g0005 a0002c0004t0002g0006 others(11): Show |
14 | HG01167.hp2 HG01346.hp1 HG01891.hp1 others(11): Show |
intron_variant | MODIFIER | c.1040+5390G>C | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 12/24 | chr1 | 51434957 | |||||||
| chr1:51435103 | T | A | 9 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(6): Show |
9 | HG00642.hp1 HG01109.hp2 HG01257.hp2 others(6): Show |
intron_variant | MODIFIER | c.1040+5244A>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 12/24 | chr1 | 51435103 | |||||||
| chr1:51435198 | C | A | 76 | a0001c0002t0002g0030 a0001c0002t0002g0031 a0001c0002t0017g0033 others(73): Show |
76 | HG00642.hp1 HG00733.hp2 HG00735.hp1 others(73): Show |
intron_variant | MODIFIER | c.1040+5149G>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 12/24 | chr1 | 51435198 | |||||||
| chr1:51435350 | C | T | 5 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(2): Show |
5 | HG00642.hp1 HG01257.hp2 HG02717.hp2 others(2): Show |
intron_variant | MODIFIER | c.1040+4997G>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 12/24 | chr1 | 51435350 | |||||||
| chr1:51435390 | C | T | 1 | a0001c0002t0001g0096 | 1 | HG03654.hp2 | intron_variant | MODIFIER | c.1040+4957G>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 12/24 | chr1 | 51435390 | |||||||
| chr1:51435444 | G | T | 16 | a0002c0001t0005g0139 a0002c0001t0005g0140 a0002c0001t0005g0142 others(13): Show |
16 | HG01109.hp1 HG01175.hp1 HG01884.hp2 others(13): Show |
intron_variant | MODIFIER | c.1040+4903C>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 12/24 | chr1 | 51435444 | |||||||
| chr1:51435947 | C | T | 5 | a0002c0001t0011g0130 a0002c0001t0011g0131 a0002c0001t0011g0132 others(2): Show |
5 | HG01109.hp2 HG02559.hp2 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.1040+4400G>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 12/24 | chr1 | 51435947 | |||||||
| chr1:51436204 | A | G | 9 | a0002c0001t0006g0027 a0002c0001t0006g0029 a0002c0001t0006g0034 others(6): Show |
9 | HG02257.hp1 HG02572.hp1 HG03041.hp1 others(6): Show |
intron_variant | MODIFIER | c.1040+4143T>C | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 12/24 | chr1 | 51436204 | |||||||
| chr1:51436354 | T | C | 3 | a0001c0002t0001g0088 a0001c0002t0018g0083 a0001c0002t0019g0055 |
3 | HG00558.hp2 NA18747.hp2 NA18957.hp2 |
intron_variant | MODIFIER | c.1040+3993A>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 12/24 | chr1 | 51436354 | |||||||
| chr1:51436406 | GAA | G | 76 | a0001c0002t0002g0030 a0001c0002t0002g0031 a0001c0002t0017g0033 others(73): Show |
76 | HG00642.hp1 HG00733.hp2 HG00735.hp1 others(73): Show |
intron_variant | MODIFIER | c.1040+3939_1040+394 others(6): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 12/24 | chr1 | 51436406 | |||||||
| chr1:51436494 | G | A | 1 | a0009c0009t0015g0125 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.1040+3853C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 12/24 | chr1 | 51436494 | |||||||
| chr1:51436709 | T | C | 3 | a0002c0001t0009g0117 a0002c0001t0009g0118 a0002c0001t0009g0119 |
3 | HG00735.hp2 HG03491.hp1 HG03492.hp2 |
intron_variant | MODIFIER | c.1040+3638A>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 12/24 | chr1 | 51436709 | |||||||
| chr1:51436729 | G | A | 3 | a0002c0001t0009g0117 a0002c0001t0009g0118 a0002c0001t0009g0119 |
3 | HG00735.hp2 HG03491.hp1 HG03492.hp2 |
intron_variant | MODIFIER | c.1040+3618C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 12/24 | chr1 | 51436729 | |||||||
| chr1:51436894 | T | G | 3 | a0002c0001t0009g0117 a0002c0001t0009g0118 a0002c0001t0009g0119 |
3 | HG00735.hp2 HG03491.hp1 HG03492.hp2 |
intron_variant | MODIFIER | c.1040+3453A>C | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 12/24 | chr1 | 51436894 | |||||||
| chr1:51436901 | A | G | 5 | a0001c0003t0001g0053 a0001c0003t0001g0058 a0001c0003t0001g0059 others(2): Show |
5 | HG00642.hp2 HG01884.hp1 HG02145.hp2 others(2): Show |
intron_variant | MODIFIER | c.1040+3446T>C | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 12/24 | chr1 | 51436901 | |||||||
| chr1:51437119 | G | T | 9 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(6): Show |
9 | HG00642.hp1 HG01109.hp2 HG01257.hp2 others(6): Show |
intron_variant | MODIFIER | c.1040+3228C>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 12/24 | chr1 | 51437119 | |||||||
| chr1:51437269 | T | C | 4 | a0002c0001t0008g0120 a0002c0001t0008g0121 a0002c0001t0008g0122 others(1): Show |
4 | HG00738.hp1 HG01516.hp1 HG01517.hp1 others(1): Show |
intron_variant | MODIFIER | c.1040+3078A>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 12/24 | chr1 | 51437269 | |||||||
| chr1:51437492 | AT | A | 8 | a0001c0002t0001g0126 a0001c0002t0001g0127 a0001c0003t0001g0070 others(5): Show |
8 | HG00438.hp1 HG00642.hp1 HG01257.hp2 others(5): Show |
intron_variant | MODIFIER | c.1040+2854delA | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 12/24 | chr1 | 51437492 | |||||||
| chr1:51437640 | G | A | 1 | a0002c0004t0002g0008 | 1 | HG02738.hp2 | intron_variant | MODIFIER | c.1040+2707C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 12/24 | chr1 | 51437640 | |||||||
| chr1:51437758 | C | T | 9 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(6): Show |
9 | HG00642.hp1 HG01109.hp2 HG01257.hp2 others(6): Show |
intron_variant | MODIFIER | c.1040+2589G>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 12/24 | chr1 | 51437758 | |||||||
| chr1:51438165 | T | C | 76 | a0001c0002t0002g0030 a0001c0002t0002g0031 a0001c0002t0017g0033 others(73): Show |
76 | HG00642.hp1 HG00733.hp2 HG00735.hp1 others(73): Show |
intron_variant | MODIFIER | c.1040+2182A>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 12/24 | chr1 | 51438165 | |||||||
| chr1:51438456 | T | A | 76 | a0001c0002t0002g0030 a0001c0002t0002g0031 a0001c0002t0017g0033 others(73): Show |
76 | HG00642.hp1 HG00733.hp2 HG00735.hp1 others(73): Show |
intron_variant | MODIFIER | c.1040+1891A>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 12/24 | chr1 | 51438456 | |||||||
| chr1:51438521 | C | T | 2 | a0001c0002t0001g0101 a0001c0002t0020g0050 |
2 | HG01168.hp2 HG02738.hp1 |
intron_variant | MODIFIER | c.1040+1826G>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 12/24 | chr1 | 51438521 | |||||||
| chr1:51438698 | A | G | 5 | a0002c0001t0006g0027 a0002c0001t0006g0029 a0002c0001t0006g0034 others(2): Show |
5 | HG02572.hp1 HG03041.hp1 HG03098.hp1 others(2): Show |
intron_variant | MODIFIER | c.1040+1649T>C | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 12/24 | chr1 | 51438698 | |||||||
| chr1:51438765 | T | A | 4 | a0002c0001t0010g0038 a0002c0001t0010g0039 a0002c0001t0010g0041 others(1): Show |
4 | HG02109.hp2 HG02717.hp2 HG02818.hp1 others(1): Show |
intron_variant | MODIFIER | c.1040+1582A>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 12/24 | chr1 | 51438765 | |||||||
| chr1:51438833 | T | C | 14 | a0002c0001t0005g0139 a0002c0001t0005g0140 a0002c0001t0005g0142 others(11): Show |
14 | HG01109.hp1 HG01175.hp1 HG01884.hp2 others(11): Show |
intron_variant | MODIFIER | c.1040+1514A>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 12/24 | chr1 | 51438833 | |||||||
| chr1:51438883 | G | A | 3 | a0002c0004t0002g0006 a0002c0004t0002g0008 a0006c0013t0001g0099 |
3 | HG02738.hp2 HG02970.hp1 HG04199.hp1 |
intron_variant | MODIFIER | c.1040+1464C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 12/24 | chr1 | 51438883 | |||||||
| chr1:51438919 | G | A | 1 | a0001c0002t0001g0081 | 1 | HG03492.hp1 | intron_variant | MODIFIER | c.1040+1428C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 12/24 | chr1 | 51438919 | |||||||
| chr1:51439375 | A | T | 2 | a0001c0002t0001g0126 a0001c0002t0001g0127 |
2 | HG00438.hp1 NA18747.hp1 |
intron_variant | MODIFIER | c.1040+972T>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 12/24 | chr1 | 51439375 | |||||||
| chr1:51439394 | G | A | 1 | a0002c0001t0005g0140 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.1040+953C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 12/24 | chr1 | 51439394 | |||||||
| chr1:51439586 | A | G | 1 | a0009c0009t0015g0125 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.1040+761T>C | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 12/24 | chr1 | 51439586 | |||||||
| chr1:51439755 | AGCTGAC | A | 5 | a0002c0001t0009g0116 a0002c0001t0009g0117 a0002c0001t0009g0118 others(2): Show |
5 | HG00735.hp2 HG03491.hp1 HG03492.hp2 others(2): Show |
intron_variant | MODIFIER | c.1040+586_1040+591d others(8): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 12/24 | chr1 | 51439755 | |||||||
| chr1:51439868 | G | A | 9 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(6): Show |
9 | HG00642.hp1 HG01109.hp2 HG01257.hp2 others(6): Show |
intron_variant | MODIFIER | c.1040+479C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 12/24 | chr1 | 51439868 | |||||||
| chr1:51439985 | T | C | 1 | a0002c0001t0005g0151 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.1040+362A>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 12/24 | chr1 | 51439985 | |||||||
| chr1:51440010 | C | T | 2 | a0002c0001t0004g0042 a0002c0001t0004g0043 |
2 | HG02630.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.1040+337G>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 12/24 | chr1 | 51440010 | |||||||
| chr1:51440016 | T | C | 5 | a0002c0001t0011g0130 a0002c0001t0011g0131 a0002c0001t0011g0132 others(2): Show |
5 | HG01109.hp2 HG02559.hp2 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.1040+331A>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 12/24 | chr1 | 51440016 | |||||||
| chr1:51440277 | C | CTG | 37 | a0001c0002t0001g0051 a0001c0002t0001g0056 a0001c0002t0001g0060 others(34): Show |
37 | HG00438.hp2 HG00558.hp1 HG00558.hp2 others(34): Show |
intron_variant | MODIFIER | c.1040+68_1040+69dup others(2): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 12/24 | chr1 | 51440277 | |||||||
| chr1:51440277 | CTG | C | 11 | a0001c0002t0001g0026 a0001c0002t0001g0046 a0001c0002t0001g0047 others(8): Show |
11 | HG00639.hp2 HG00642.hp1 HG00738.hp1 others(8): Show |
intron_variant | MODIFIER | c.1040+68_1040+69del others(2): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 12/24 | chr1 | 51440277 | |||||||
| chr1:51440277 | CTGTG | C | 37 | a0001c0002t0003g0085 a0001c0002t0017g0033 a0002c0001t0004g0018 others(34): Show |
37 | HG00735.hp1 HG00735.hp2 HG01109.hp2 others(34): Show |
intron_variant | MODIFIER | c.1040+66_1040+69del others(4): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 12/24 | chr1 | 51440277 | |||||||
| chr1:51440277 | CTGTGTG | C | 19 | a0002c0001t0004g0019 a0002c0001t0004g0042 a0002c0001t0004g0043 others(16): Show |
19 | HG00733.hp2 HG01109.hp1 HG01175.hp1 others(16): Show |
intron_variant | MODIFIER | c.1040+64_1040+69del others(6): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 12/24 | chr1 | 51440277 | |||||||
| chr1:51440277 | CTGTGTGT others(1): Show |
C | 6 | a0002c0001t0010g0038 a0002c0001t0010g0039 a0002c0001t0010g0041 others(3): Show |
6 | HG02109.hp2 HG02717.hp2 HG02818.hp1 others(3): Show |
intron_variant | MODIFIER | c.1040+62_1040+69del others(8): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 12/24 | chr1 | 51440277 | |||||||
| chr1:51440279 | G | C | 2 | a0001c0002t0002g0030 a0001c0002t0002g0031 |
2 | HG02630.hp2 NA19240.hp1 |
intron_variant | MODIFIER | c.1040+68C>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 12/24 | chr1 | 51440279 | |||||||
| chr1:51440283 | G | C | 1 | a0001c0002t0017g0033 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.1040+64C>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 12/24 | chr1 | 51440283 | |||||||
| chr1:51440284 | T | C | 4 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(1): Show |
4 | HG00642.hp1 HG01257.hp2 HG03130.hp1 others(1): Show |
intron_variant | MODIFIER | c.1040+63A>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 12/24 | chr1 | 51440284 | |||||||
| chr1:51440286 | T | C | 5 | a0002c0001t0011g0130 a0002c0001t0011g0131 a0002c0001t0011g0132 others(2): Show |
5 | HG01109.hp2 HG02559.hp2 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.1040+61A>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 12/24 | chr1 | 51440286 | |||||||
| chr1:51440287 | G | C | 1 | a0007c0008t0002g0032 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.1040+60C>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 12/24 | chr1 | 51440287 | |||||||
| chr1:51440962 | C | T | 8 | a0001c0003t0001g0064 a0001c0003t0001g0065 a0001c0003t0001g0066 others(5): Show |
8 | HG00738.hp2 HG00741.hp1 HG01074.hp2 others(5): Show |
intron_variant | MODIFIER | c.955-530G>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 11/24 | chr1 | 51440962 | |||||||
| chr1:51441230 | G | T | 5 | a0002c0001t0006g0027 a0002c0001t0006g0029 a0002c0001t0006g0034 others(2): Show |
5 | HG02572.hp1 HG03041.hp1 HG03098.hp1 others(2): Show |
intron_variant | MODIFIER | c.955-798C>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 11/24 | chr1 | 51441230 | |||||||
| chr1:51441640 | A | C | 4 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(1): Show |
4 | HG00642.hp1 HG01257.hp2 HG03130.hp1 others(1): Show |
intron_variant | MODIFIER | c.955-1208T>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 11/24 | chr1 | 51441640 | |||||||
| chr1:51442404 | T | C | 9 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(6): Show |
9 | HG00642.hp1 HG01109.hp2 HG01257.hp2 others(6): Show |
intron_variant | MODIFIER | c.955-1972A>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 11/24 | chr1 | 51442404 | |||||||
| chr1:51442595 | AT | A | 9 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(6): Show |
9 | HG00642.hp1 HG01109.hp2 HG01257.hp2 others(6): Show |
intron_variant | MODIFIER | c.955-2164delA | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 11/24 | chr1 | 51442595 | |||||||
| chr1:51443116 | T | C | 14 | a0002c0004t0002g0004 a0002c0004t0002g0005 a0002c0004t0002g0006 others(11): Show |
14 | HG01167.hp2 HG01346.hp1 HG01891.hp1 others(11): Show |
intron_variant | MODIFIER | c.954+1773A>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 11/24 | chr1 | 51443116 | |||||||
| chr1:51443212 | A | C | 1 | a0001c0002t0001g0101 | 1 | HG01168.hp2 | intron_variant | MODIFIER | c.954+1677T>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 11/24 | chr1 | 51443212 | |||||||
| chr1:51443303 | GA | G | 9 | a0002c0001t0006g0027 a0002c0001t0006g0029 a0002c0001t0006g0034 others(6): Show |
9 | HG02257.hp1 HG02572.hp1 HG03041.hp1 others(6): Show |
intron_variant | MODIFIER | c.954+1585delT | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 11/24 | chr1 | 51443303 | |||||||
| chr1:51443304 | A | G | 8 | a0002c0001t0004g0018 a0002c0001t0004g0019 a0002c0001t0004g0020 others(5): Show |
8 | HG00733.hp2 HG00735.hp1 HG01192.hp1 others(5): Show |
intron_variant | MODIFIER | c.954+1585T>C | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 11/24 | chr1 | 51443304 | |||||||
| chr1:51443633 | TTTTC | T | 148 | a0001c0002t0001g0026 a0001c0002t0001g0045 a0001c0002t0001g0046 others(145): Show |
148 | HG00438.hp1 HG00438.hp2 HG00558.hp1 others(145): Show |
intron_variant | MODIFIER | c.954+1252_954+1255d others(6): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 11/24 | chr1 | 51443633 | |||||||
| chr1:51443860 | T | C | 14 | a0002c0004t0002g0004 a0002c0004t0002g0005 a0002c0004t0002g0006 others(11): Show |
14 | HG01167.hp2 HG01346.hp1 HG01891.hp1 others(11): Show |
intron_variant | MODIFIER | c.954+1029A>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 11/24 | chr1 | 51443860 | |||||||
| chr1:51444113 | A | G | 1 | a0001c0002t0003g0078 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.954+776T>C | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 11/24 | chr1 | 51444113 | |||||||
| chr1:51444528 | G | T | 2 | a0001c0002t0017g0033 a0007c0008t0002g0032 |
2 | HG02717.hp1 HG02976.hp1 |
intron_variant | MODIFIER | c.954+361C>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 11/24 | chr1 | 51444528 | |||||||
| chr1:51444770 | T | A | 2 | a0002c0001t0009g0116 a0002c0001t0022g0115 |
2 | HG06807.hp1 NA19030.hp2 |
intron_variant | MODIFIER | c.954+119A>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 11/24 | chr1 | 51444770 | |||||||
| chr1:51445106 | A | G | 4 | a0001c0002t0002g0030 a0001c0002t0002g0031 a0001c0002t0017g0033 others(1): Show |
4 | HG02630.hp2 HG02717.hp1 HG02976.hp1 others(1): Show |
intron_variant | MODIFIER | c.798-61T>C | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 10/24 | chr1 | 51445106 | |||||||
| chr1:51445797 | C | T | 12 | a0001c0002t0001g0075 a0001c0002t0001g0096 a0001c0002t0001g0097 others(9): Show |
12 | HG00438.hp1 HG01175.hp2 HG01257.hp1 others(9): Show |
intron_variant | MODIFIER | c.798-752G>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 10/24 | chr1 | 51445797 | |||||||
| chr1:51445886 | A | G | 5 | a0002c0001t0011g0130 a0002c0001t0011g0131 a0002c0001t0011g0132 others(2): Show |
5 | HG01109.hp2 HG02559.hp2 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.798-841T>C | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 10/24 | chr1 | 51445886 | |||||||
| chr1:51446113 | G | A | 9 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(6): Show |
9 | HG00642.hp1 HG01109.hp2 HG01257.hp2 others(6): Show |
intron_variant | MODIFIER | c.797+847C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 10/24 | chr1 | 51446113 | |||||||
| chr1:51446275 | T | G | 14 | a0002c0001t0005g0139 a0002c0001t0005g0140 a0002c0001t0005g0142 others(11): Show |
14 | HG01109.hp1 HG01175.hp1 HG01884.hp2 others(11): Show |
intron_variant | MODIFIER | c.797+685A>C | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 10/24 | chr1 | 51446275 | |||||||
| chr1:51446453 | C | CT | 31 | a0002c0001t0004g0018 a0002c0001t0004g0019 a0002c0001t0004g0020 others(28): Show |
31 | HG00733.hp2 HG00735.hp1 HG01109.hp1 others(28): Show |
intron_variant | MODIFIER | c.797+506dupA | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 10/24 | chr1 | 51446453 | |||||||
| chr1:51446485 | T | C | 9 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(6): Show |
9 | HG00642.hp1 HG01109.hp2 HG01257.hp2 others(6): Show |
intron_variant | MODIFIER | c.797+475A>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 10/24 | chr1 | 51446485 | |||||||
| chr1:51446572 | C | G | 2 | a0002c0001t0004g0042 a0002c0001t0004g0043 |
2 | HG02630.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.797+388G>C | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 10/24 | chr1 | 51446572 | |||||||
| chr1:51446598 | C | A | 2 | a0002c0001t0006g0034 a0002c0001t0006g0035 |
2 | HG03098.hp1 NA18906.hp2 |
intron_variant | MODIFIER | c.797+362G>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 10/24 | chr1 | 51446598 | |||||||
| chr1:51446660 | G | A | 4 | a0002c0001t0008g0120 a0002c0001t0008g0121 a0002c0001t0008g0122 others(1): Show |
4 | HG00738.hp1 HG01516.hp1 HG01517.hp1 others(1): Show |
intron_variant | MODIFIER | c.797+300C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 10/24 | chr1 | 51446660 | |||||||
| chr1:51446744 | C | T | 3 | a0002c0001t0009g0117 a0002c0001t0009g0118 a0002c0001t0009g0119 |
3 | HG00735.hp2 HG03491.hp1 HG03492.hp2 |
intron_variant | MODIFIER | c.797+216G>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 10/24 | chr1 | 51446744 | |||||||
| chr1:51446778 | T | G | 14 | a0002c0001t0005g0139 a0002c0001t0005g0140 a0002c0001t0005g0142 others(11): Show |
14 | HG01109.hp1 HG01175.hp1 HG01884.hp2 others(11): Show |
intron_variant | MODIFIER | c.797+182A>C | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 10/24 | chr1 | 51446778 | |||||||
| chr1:51447485 | T | C | 1 | a0001c0002t0001g0048 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.652-380A>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 9/24 | chr1 | 51447485 | |||||||
| chr1:51447520 | T | A | 1 | a0002c0001t0005g0146 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.652-415A>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 9/24 | chr1 | 51447520 | |||||||
| chr1:51447616 | G | C | 1 | a0002c0001t0005g0145 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.651+430C>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 9/24 | chr1 | 51447616 | |||||||
| chr1:51447815 | C | A | 4 | a0002c0001t0008g0120 a0002c0001t0008g0121 a0002c0001t0008g0122 others(1): Show |
4 | HG00738.hp1 HG01516.hp1 HG01517.hp1 others(1): Show |
intron_variant | MODIFIER | c.651+231G>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 9/24 | chr1 | 51447815 | |||||||
| chr1:51447856 | C | T | 1 | a0001c0003t0001g0059 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.651+190G>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 9/24 | chr1 | 51447856 | |||||||
| chr1:51447892 | T | C | 13 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(10): Show |
13 | HG00642.hp1 HG00738.hp1 HG01109.hp2 others(10): Show |
intron_variant | MODIFIER | c.651+154A>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 9/24 | chr1 | 51447892 | |||||||
| chr1:51447900 | T | TA | 9 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(6): Show |
9 | HG00642.hp1 HG01109.hp2 HG01257.hp2 others(6): Show |
intron_variant | MODIFIER | c.651+145dupT | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 9/24 | chr1 | 51447900 | |||||||
| chr1:51447946 | G | A | 1 | a0009c0009t0015g0125 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.651+100C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 9/24 | chr1 | 51447946 | |||||||
| chr1:51448023 | C | T | 4 | a0002c0001t0008g0120 a0002c0001t0008g0121 a0002c0001t0008g0122 others(1): Show |
4 | HG00738.hp1 HG01516.hp1 HG01517.hp1 others(1): Show |
intron_variant | MODIFIER | c.651+23G>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 9/24 | chr1 | 51448023 | |||||||
| chr1:51448309 | G | GAAAGAAA others(2): Show |
4 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(1): Show |
4 | HG00642.hp1 HG01257.hp2 HG03130.hp1 others(1): Show |
intron_variant | MODIFIER | c.562-175_562-174ins others(9): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 8/24 | chr1 | 51448309 | |||||||
| chr1:51448313 | GAAAT | G | 5 | a0002c0001t0011g0130 a0002c0001t0011g0131 a0002c0001t0011g0132 others(2): Show |
5 | HG01109.hp2 HG02559.hp2 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.562-182_562-179del others(4): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 8/24 | chr1 | 51448313 | |||||||
| chr1:51448317 | T | G | 4 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(1): Show |
4 | HG00642.hp1 HG01257.hp2 HG03130.hp1 others(1): Show |
intron_variant | MODIFIER | c.562-182A>C | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 8/24 | chr1 | 51448317 | |||||||
| chr1:51448322 | A | C | 4 | a0001c0002t0001g0026 a0001c0002t0001g0046 a0001c0002t0001g0047 others(1): Show |
4 | HG00639.hp2 HG02647.hp1 HG02818.hp2 others(1): Show |
intron_variant | MODIFIER | c.562-187T>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 8/24 | chr1 | 51448322 | |||||||
| chr1:51448859 | T | C | 7 | a0002c0001t0005g0139 a0002c0001t0005g0140 a0002c0001t0005g0142 others(4): Show |
7 | HG01175.hp1 HG02055.hp2 HG02257.hp2 others(4): Show |
intron_variant | MODIFIER | c.562-724A>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 8/24 | chr1 | 51448859 | |||||||
| chr1:51449215 | T | TA | 4 | a0002c0001t0008g0120 a0002c0001t0008g0121 a0002c0001t0008g0122 others(1): Show |
4 | HG00738.hp1 HG01516.hp1 HG01517.hp1 others(1): Show |
intron_variant | MODIFIER | c.562-1081dupT | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 8/24 | chr1 | 51449215 | |||||||
| chr1:51449234 | T | C | 2 | a0001c0002t0001g0101 a0001c0002t0020g0050 |
2 | HG01168.hp2 HG02738.hp1 |
intron_variant | MODIFIER | c.562-1099A>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 8/24 | chr1 | 51449234 | |||||||
| chr1:51449263 | AAAC | A | 5 | a0002c0001t0006g0027 a0002c0001t0006g0029 a0002c0001t0006g0034 others(2): Show |
5 | HG02572.hp1 HG03041.hp1 HG03098.hp1 others(2): Show |
intron_variant | MODIFIER | c.562-1131_562-1129d others(5): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 8/24 | chr1 | 51449263 | |||||||
| chr1:51449355 | A | G | 9 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(6): Show |
9 | HG00642.hp1 HG01109.hp2 HG01257.hp2 others(6): Show |
intron_variant | MODIFIER | c.562-1220T>C | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 8/24 | chr1 | 51449355 | |||||||
| chr1:51449479 | TATTAAAT others(2297): Show |
T | 4 | a0001c0002t0001g0026 a0001c0002t0001g0046 a0001c0002t0001g0047 others(1): Show |
4 | HG00639.hp2 HG02647.hp1 HG02818.hp2 others(1): Show |
intron_variant | MODIFIER | c.562-3648_562-1345d others(2): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 8/24 | chr1 | 51449479 | |||||||
| chr1:51449513 | A | G | 5 | a0002c0001t0011g0130 a0002c0001t0011g0131 a0002c0001t0011g0132 others(2): Show |
5 | HG01109.hp2 HG02559.hp2 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.562-1378T>C | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 8/24 | chr1 | 51449513 | |||||||
| chr1:51449625 | G | GTTCT | 9 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(6): Show |
9 | HG00642.hp1 HG01109.hp2 HG01257.hp2 others(6): Show |
intron_variant | MODIFIER | c.562-1491_562-1490i others(6): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 8/24 | chr1 | 51449625 | |||||||
| chr1:51449905 | C | T | 1 | a0001c0002t0001g0100 | 1 | HG01175.hp2 | intron_variant | MODIFIER | c.562-1770G>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 8/24 | chr1 | 51449905 | |||||||
| chr1:51450025 | T | C | 9 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(6): Show |
9 | HG00642.hp1 HG01109.hp2 HG01257.hp2 others(6): Show |
intron_variant | MODIFIER | c.562-1890A>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 8/24 | chr1 | 51450025 | |||||||
| chr1:51450027 | C | A | 4 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(1): Show |
4 | HG00642.hp1 HG01257.hp2 HG03130.hp1 others(1): Show |
intron_variant | MODIFIER | c.562-1892G>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 8/24 | chr1 | 51450027 | |||||||
| chr1:51450066 | G | A | 2 | a0002c0001t0004g0042 a0002c0001t0004g0043 |
2 | HG02630.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.562-1931C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 8/24 | chr1 | 51450066 | |||||||
| chr1:51450160 | C | T | 5 | a0002c0001t0011g0130 a0002c0001t0011g0131 a0002c0001t0011g0132 others(2): Show |
5 | HG01109.hp2 HG02559.hp2 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.562-2025G>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 8/24 | chr1 | 51450160 | |||||||
| chr1:51450243 | G | C | 25 | a0001c0003t0001g0053 a0001c0003t0001g0058 a0001c0003t0001g0059 others(22): Show |
25 | HG00642.hp2 HG00733.hp1 HG00738.hp2 others(22): Show |
intron_variant | MODIFIER | c.562-2108C>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 8/24 | chr1 | 51450243 | |||||||
| chr1:51450417 | G | T | 1 | a0009c0009t0015g0125 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.562-2282C>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 8/24 | chr1 | 51450417 | |||||||
| chr1:51450563 | T | C | 1 | a0001c0002t0001g0060 | 1 | HG00438.hp2 | intron_variant | MODIFIER | c.562-2428A>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 8/24 | chr1 | 51450563 | |||||||
| chr1:51450693 | G | A | 9 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(6): Show |
9 | HG00642.hp1 HG01109.hp2 HG01257.hp2 others(6): Show |
intron_variant | MODIFIER | c.562-2558C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 8/24 | chr1 | 51450693 | |||||||
| chr1:51450825 | T | C | 4 | a0002c0001t0008g0120 a0002c0001t0008g0121 a0002c0001t0008g0122 others(1): Show |
4 | HG00738.hp1 HG01516.hp1 HG01517.hp1 others(1): Show |
intron_variant | MODIFIER | c.562-2690A>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 8/24 | chr1 | 51450825 | |||||||
| chr1:51451030 | A | G | 14 | a0002c0004t0002g0004 a0002c0004t0002g0005 a0002c0004t0002g0006 others(11): Show |
14 | HG01167.hp2 HG01346.hp1 HG01891.hp1 others(11): Show |
intron_variant | MODIFIER | c.562-2895T>C | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 8/24 | chr1 | 51451030 | |||||||
| chr1:51451110 | A | G | 4 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(1): Show |
4 | HG00642.hp1 HG01257.hp2 HG03130.hp1 others(1): Show |
intron_variant | MODIFIER | c.562-2975T>C | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 8/24 | chr1 | 51451110 | |||||||
| chr1:51451214 | C | T | 3 | a0002c0001t0006g0027 a0002c0001t0006g0029 a0002c0001t0016g0028 |
3 | HG02572.hp1 HG03041.hp1 NA18522.hp2 |
intron_variant | MODIFIER | c.562-3079G>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 8/24 | chr1 | 51451214 | |||||||
| chr1:51451227 | G | A | 2 | a0001c0002t0001g0079 a0001c0002t0001g0110 |
2 | HG04115.hp2 HG04228.hp2 |
intron_variant | MODIFIER | c.562-3092C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 8/24 | chr1 | 51451227 | |||||||
| chr1:51451280 | G | C | 2 | a0002c0004t0002g0006 a0002c0004t0002g0008 |
2 | HG02738.hp2 HG04199.hp1 |
intron_variant | MODIFIER | c.562-3145C>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 8/24 | chr1 | 51451280 | |||||||
| chr1:51451407 | A | C | 76 | a0001c0002t0002g0030 a0001c0002t0002g0031 a0001c0002t0017g0033 others(73): Show |
76 | HG00642.hp1 HG00733.hp2 HG00735.hp1 others(73): Show |
intron_variant | MODIFIER | c.562-3272T>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 8/24 | chr1 | 51451407 | |||||||
| chr1:51451452 | C | T | 4 | a0002c0001t0008g0120 a0002c0001t0008g0121 a0002c0001t0008g0122 others(1): Show |
4 | HG00738.hp1 HG01516.hp1 HG01517.hp1 others(1): Show |
intron_variant | MODIFIER | c.562-3317G>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 8/24 | chr1 | 51451452 | |||||||
| chr1:51451490 | C | CA | 19 | a0001c0002t0001g0056 a0002c0001t0004g0018 a0002c0001t0004g0019 others(16): Show |
19 | HG00733.hp2 HG00735.hp1 HG00738.hp1 others(16): Show |
intron_variant | MODIFIER | c.562-3356dupT | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 8/24 | chr1 | 51451490 | |||||||
| chr1:51451490 | CA | C | 14 | a0001c0002t0001g0103 a0002c0004t0002g0004 a0002c0004t0002g0005 others(11): Show |
14 | HG01167.hp2 HG01346.hp1 HG01891.hp1 others(11): Show |
intron_variant | MODIFIER | c.562-3356delT | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 8/24 | chr1 | 51451490 | |||||||
| chr1:51451490 | CAAAAAA | C | 5 | a0002c0001t0009g0116 a0002c0001t0009g0117 a0002c0001t0009g0118 others(2): Show |
5 | HG00735.hp2 HG03491.hp1 HG03492.hp2 others(2): Show |
intron_variant | MODIFIER | c.562-3361_562-3356d others(8): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 8/24 | chr1 | 51451490 | |||||||
| chr1:51451505 | A | AAAAAAGA others(3): Show |
4 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(1): Show |
4 | HG00642.hp1 HG01257.hp2 HG03130.hp1 others(1): Show |
intron_variant | MODIFIER | c.562-3371_562-3370i others(12): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 8/24 | chr1 | 51451505 | |||||||
| chr1:51451509 | G | A | 4 | a0002c0001t0008g0120 a0002c0001t0008g0121 a0002c0001t0008g0122 others(1): Show |
4 | HG00738.hp1 HG01516.hp1 HG01517.hp1 others(1): Show |
intron_variant | MODIFIER | c.562-3374C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 8/24 | chr1 | 51451509 | |||||||
| chr1:51451546 | G | C | 1 | a0002c0001t0005g0140 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.562-3411C>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 8/24 | chr1 | 51451546 | |||||||
| chr1:51451572 | G | T | 9 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(6): Show |
9 | HG00642.hp1 HG01109.hp2 HG01257.hp2 others(6): Show |
intron_variant | MODIFIER | c.562-3437C>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 8/24 | chr1 | 51451572 | |||||||
| chr1:51451778 | C | T | 1 | a0008c0012t0007g0136 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.562-3643G>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 8/24 | chr1 | 51451778 | |||||||
| chr1:51451866 | G | A | 4 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(1): Show |
4 | HG00642.hp1 HG01257.hp2 HG03130.hp1 others(1): Show |
intron_variant | MODIFIER | c.562-3731C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 8/24 | chr1 | 51451866 | |||||||
| chr1:51451902 | C | CTTTTTTT others(2): Show |
5 | a0002c0001t0011g0130 a0002c0001t0011g0131 a0002c0001t0011g0132 others(2): Show |
5 | HG01109.hp2 HG02559.hp2 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.562-3776_562-3768d others(11): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 8/24 | chr1 | 51451902 | |||||||
| chr1:51451902 | C | CTTTTTTT others(3): Show |
4 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(1): Show |
4 | HG00642.hp1 HG01257.hp2 HG03130.hp1 others(1): Show |
intron_variant | MODIFIER | c.562-3768_562-3767i others(12): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 8/24 | chr1 | 51451902 | |||||||
| chr1:51452030 | C | T | 5 | a0002c0001t0006g0027 a0002c0001t0006g0029 a0002c0001t0006g0034 others(2): Show |
5 | HG02572.hp1 HG03041.hp1 HG03098.hp1 others(2): Show |
intron_variant | MODIFIER | c.562-3895G>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 8/24 | chr1 | 51452030 | |||||||
| chr1:51452099 | G | T | 25 | a0001c0003t0001g0053 a0001c0003t0001g0058 a0001c0003t0001g0059 others(22): Show |
25 | HG00642.hp2 HG00733.hp1 HG00738.hp2 others(22): Show |
intron_variant | MODIFIER | c.562-3964C>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 8/24 | chr1 | 51452099 | |||||||
| chr1:51452269 | TATTTA | T | 4 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(1): Show |
4 | HG00642.hp1 HG01257.hp2 HG03130.hp1 others(1): Show |
intron_variant | MODIFIER | c.562-4139_562-4135d others(7): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 8/24 | chr1 | 51452269 | |||||||
| chr1:51452441 | C | T | 2 | a0002c0001t0004g0042 a0002c0001t0004g0043 |
2 | HG02630.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.562-4306G>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 8/24 | chr1 | 51452441 | |||||||
| chr1:51452697 | C | G | 9 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(6): Show |
9 | HG00642.hp1 HG01109.hp2 HG01257.hp2 others(6): Show |
intron_variant | MODIFIER | c.562-4562G>C | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 8/24 | chr1 | 51452697 | |||||||
| chr1:51452793 | C | T | 2 | a0002c0001t0009g0116 a0002c0001t0022g0115 |
2 | HG06807.hp1 NA19030.hp2 |
intron_variant | MODIFIER | c.562-4658G>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 8/24 | chr1 | 51452793 | |||||||
| chr1:51452879 | G | C | 1 | a0001c0002t0001g0051 | 1 | HG03688.hp2 | intron_variant | MODIFIER | c.562-4744C>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 8/24 | chr1 | 51452879 | |||||||
| chr1:51452905 | C | G | 5 | a0002c0001t0006g0027 a0002c0001t0006g0029 a0002c0001t0006g0034 others(2): Show |
5 | HG02572.hp1 HG03041.hp1 HG03098.hp1 others(2): Show |
intron_variant | MODIFIER | c.562-4770G>C | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 8/24 | chr1 | 51452905 | |||||||
| chr1:51453149 | T | C | 1 | a0001c0002t0001g0103 | 1 | HG03491.hp2 | intron_variant | MODIFIER | c.562-5014A>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 8/24 | chr1 | 51453149 | |||||||
| chr1:51453341 | C | T | 17 | a0001c0002t0001g0051 a0001c0002t0001g0056 a0001c0002t0001g0077 others(14): Show |
17 | HG00558.hp1 HG00558.hp2 HG00639.hp1 others(14): Show |
intron_variant | MODIFIER | c.562-5206G>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 8/24 | chr1 | 51453341 | |||||||
| chr1:51453580 | G | A | 9 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(6): Show |
9 | HG00642.hp1 HG01109.hp2 HG01257.hp2 others(6): Show |
intron_variant | MODIFIER | c.562-5445C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 8/24 | chr1 | 51453580 | |||||||
| chr1:51453591 | C | T | 9 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(6): Show |
9 | HG00642.hp1 HG01109.hp2 HG01257.hp2 others(6): Show |
intron_variant | MODIFIER | c.562-5456G>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 8/24 | chr1 | 51453591 | |||||||
| chr1:51453660 | T | G | 1 | a0001c0002t0001g0103 | 1 | HG03491.hp2 | intron_variant | MODIFIER | c.562-5525A>C | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 8/24 | chr1 | 51453660 | |||||||
| chr1:51453994 | G | A | 1 | a0006c0013t0001g0099 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.562-5859C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 8/24 | chr1 | 51453994 | |||||||
| chr1:51454041 | C | CT | 4 | a0002c0001t0008g0120 a0002c0001t0008g0121 a0002c0001t0008g0122 others(1): Show |
4 | HG00738.hp1 HG01516.hp1 HG01517.hp1 others(1): Show |
intron_variant | MODIFIER | c.562-5907dupA | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 8/24 | chr1 | 51454041 | |||||||
| chr1:51454045 | G | A | 5 | a0001c0003t0001g0053 a0001c0003t0001g0058 a0001c0003t0001g0059 others(2): Show |
5 | HG00642.hp2 HG01884.hp1 HG02145.hp2 others(2): Show |
intron_variant | MODIFIER | c.562-5910C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 8/24 | chr1 | 51454045 | |||||||
| chr1:51454049 | CA | C | 7 | a0001c0002t0001g0101 a0001c0002t0003g0072 a0001c0003t0001g0053 others(4): Show |
7 | HG00642.hp2 HG01168.hp2 HG02572.hp1 others(4): Show |
intron_variant | MODIFIER | c.562-5915delT | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 8/24 | chr1 | 51454049 | |||||||
| chr1:51454049 | CAA | C | 16 | a0002c0001t0004g0042 a0002c0001t0004g0043 a0002c0001t0005g0151 others(13): Show |
16 | HG00735.hp2 HG01891.hp2 HG02109.hp2 others(13): Show |
intron_variant | MODIFIER | c.562-5916_562-5915d others(4): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 8/24 | chr1 | 51454049 | |||||||
| chr1:51454049 | CAAA | C | 22 | a0002c0001t0005g0139 a0002c0001t0005g0140 a0002c0001t0005g0142 others(19): Show |
22 | HG00738.hp1 HG01109.hp1 HG01175.hp1 others(19): Show |
intron_variant | MODIFIER | c.562-5917_562-5915d others(5): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 8/24 | chr1 | 51454049 | |||||||
| chr1:51454049 | CAAAA | C | 7 | a0002c0001t0004g0018 a0002c0001t0007g0133 a0002c0001t0007g0134 others(4): Show |
7 | HG00642.hp1 HG00735.hp1 HG01109.hp2 others(4): Show |
intron_variant | MODIFIER | c.562-5918_562-5915d others(6): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 8/24 | chr1 | 51454049 | |||||||
| chr1:51454049 | CAAAAA | C | 7 | a0002c0001t0004g0019 a0002c0001t0004g0020 a0002c0001t0004g0021 others(4): Show |
7 | HG00733.hp2 HG01192.hp1 HG01515.hp2 others(4): Show |
intron_variant | MODIFIER | c.562-5919_562-5915d others(7): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 8/24 | chr1 | 51454049 | |||||||
| chr1:51454049 | CAAAAAAA | C | 13 | a0002c0004t0002g0004 a0002c0004t0002g0005 a0002c0004t0002g0006 others(10): Show |
13 | HG01167.hp2 HG01346.hp1 HG01891.hp1 others(10): Show |
intron_variant | MODIFIER | c.562-5921_562-5915d others(9): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 8/24 | chr1 | 51454049 | |||||||
| chr1:51454072 | A | C | 5 | a0002c0001t0011g0130 a0002c0001t0011g0131 a0002c0001t0011g0132 others(2): Show |
5 | HG01109.hp2 HG02559.hp2 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.562-5937T>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 8/24 | chr1 | 51454072 | |||||||
| chr1:51454144 | C | T | 9 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(6): Show |
9 | HG00642.hp1 HG01109.hp2 HG01257.hp2 others(6): Show |
intron_variant | MODIFIER | c.562-6009G>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 8/24 | chr1 | 51454144 | |||||||
| chr1:51454374 | GAAT | G | 5 | a0002c0001t0011g0130 a0002c0001t0011g0131 a0002c0001t0011g0132 others(2): Show |
5 | HG01109.hp2 HG02559.hp2 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.562-6242_562-6240d others(5): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 8/24 | chr1 | 51454374 | |||||||
| chr1:51454831 | T | C | 1 | a0002c0001t0005g0142 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.561+6260A>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 8/24 | chr1 | 51454831 | |||||||
| chr1:51454849 | GAA | G | 2 | a0002c0001t0006g0034 a0002c0001t0006g0035 |
2 | HG03098.hp1 NA18906.hp2 |
intron_variant | MODIFIER | c.561+6240_561+6241d others(4): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 8/24 | chr1 | 51454849 | |||||||
| chr1:51454858 | G | A | 1 | a0007c0008t0002g0032 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.561+6233C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 8/24 | chr1 | 51454858 | |||||||
| chr1:51454932 | AG | A | 3 | a0002c0001t0009g0117 a0002c0001t0009g0118 a0002c0001t0009g0119 |
3 | HG00735.hp2 HG03491.hp1 HG03492.hp2 |
intron_variant | MODIFIER | c.561+6158delC | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 8/24 | chr1 | 51454932 | |||||||
| chr1:51455058 | T | C | 14 | a0002c0004t0002g0004 a0002c0004t0002g0005 a0002c0004t0002g0006 others(11): Show |
14 | HG01167.hp2 HG01346.hp1 HG01891.hp1 others(11): Show |
intron_variant | MODIFIER | c.561+6033A>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 8/24 | chr1 | 51455058 | |||||||
| chr1:51455100 | C | T | 4 | a0001c0002t0002g0030 a0001c0002t0002g0031 a0001c0002t0017g0033 others(1): Show |
4 | HG02630.hp2 HG02717.hp1 HG02976.hp1 others(1): Show |
intron_variant | MODIFIER | c.561+5991G>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 8/24 | chr1 | 51455100 | |||||||
| chr1:51455310 | T | TTGAC | 13 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(10): Show |
13 | HG00642.hp1 HG00738.hp1 HG01109.hp2 others(10): Show |
intron_variant | MODIFIER | c.561+5780_561+5781i others(6): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 8/24 | chr1 | 51455310 | |||||||
| chr1:51455322 | A | G | 13 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(10): Show |
13 | HG00642.hp1 HG00738.hp1 HG01109.hp2 others(10): Show |
intron_variant | MODIFIER | c.561+5769T>C | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 8/24 | chr1 | 51455322 | |||||||
| chr1:51455496 | A | G | 14 | a0002c0004t0002g0004 a0002c0004t0002g0005 a0002c0004t0002g0006 others(11): Show |
14 | HG01167.hp2 HG01346.hp1 HG01891.hp1 others(11): Show |
intron_variant | MODIFIER | c.561+5595T>C | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 8/24 | chr1 | 51455496 | |||||||
| chr1:51455531 | G | A | 9 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(6): Show |
9 | HG00642.hp1 HG01109.hp2 HG01257.hp2 others(6): Show |
intron_variant | MODIFIER | c.561+5560C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 8/24 | chr1 | 51455531 | |||||||
| chr1:51455579 | CA | C | 4 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(1): Show |
4 | HG00642.hp1 HG01257.hp2 HG03130.hp1 others(1): Show |
intron_variant | MODIFIER | c.561+5511delT | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 8/24 | chr1 | 51455579 | |||||||
| chr1:51455633 | G | A | 7 | a0002c0001t0005g0144 a0002c0001t0005g0145 a0002c0001t0005g0146 others(4): Show |
7 | HG01109.hp1 HG01884.hp2 HG01891.hp2 others(4): Show |
intron_variant | MODIFIER | c.561+5458C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 8/24 | chr1 | 51455633 | |||||||
| chr1:51455767 | C | T | 9 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(6): Show |
9 | HG00642.hp1 HG01109.hp2 HG01257.hp2 others(6): Show |
intron_variant | MODIFIER | c.561+5324G>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 8/24 | chr1 | 51455767 | |||||||
| chr1:51455933 | C | T | 1 | a0001c0002t0003g0084 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.561+5158G>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 8/24 | chr1 | 51455933 | |||||||
| chr1:51455945 | T | A | 17 | a0001c0002t0001g0104 a0001c0002t0001g0105 a0002c0001t0004g0025 others(14): Show |
17 | HG00639.hp1 HG01167.hp2 HG01346.hp1 others(14): Show |
intron_variant | MODIFIER | c.561+5146A>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 8/24 | chr1 | 51455945 | |||||||
| chr1:51455946 | A | T | 9 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(6): Show |
9 | HG00642.hp1 HG01109.hp2 HG01257.hp2 others(6): Show |
intron_variant | MODIFIER | c.561+5145T>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 8/24 | chr1 | 51455946 | |||||||
| chr1:51456027 | A | G | 1 | a0002c0001t0022g0115 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.561+5064T>C | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 8/24 | chr1 | 51456027 | |||||||
| chr1:51456178 | G | A | 5 | a0002c0001t0004g0044 a0002c0001t0010g0038 a0002c0001t0010g0039 others(2): Show |
5 | HG02109.hp2 HG02717.hp2 HG02818.hp1 others(2): Show |
intron_variant | MODIFIER | c.561+4913C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 8/24 | chr1 | 51456178 | |||||||
| chr1:51456358 | G | A | 4 | a0001c0002t0001g0026 a0001c0002t0001g0046 a0001c0002t0001g0047 others(1): Show |
4 | HG00639.hp2 HG02647.hp1 HG02818.hp2 others(1): Show |
intron_variant | MODIFIER | c.561+4733C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 8/24 | chr1 | 51456358 | |||||||
| chr1:51456399 | G | C | 14 | a0002c0004t0002g0004 a0002c0004t0002g0005 a0002c0004t0002g0006 others(11): Show |
14 | HG01167.hp2 HG01346.hp1 HG01891.hp1 others(11): Show |
intron_variant | MODIFIER | c.561+4692C>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 8/24 | chr1 | 51456399 | |||||||
| chr1:51456406 | G | A | 9 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(6): Show |
9 | HG00642.hp1 HG01109.hp2 HG01257.hp2 others(6): Show |
intron_variant | MODIFIER | c.561+4685C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 8/24 | chr1 | 51456406 | |||||||
| chr1:51456626 | G | A | 1 | a0001c0002t0001g0113 | 1 | NA18957.hp1 | intron_variant | MODIFIER | c.561+4465C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 8/24 | chr1 | 51456626 | |||||||
| chr1:51456778 | T | G | 3 | a0002c0001t0009g0117 a0002c0001t0009g0118 a0002c0001t0009g0119 |
3 | HG00735.hp2 HG03491.hp1 HG03492.hp2 |
intron_variant | MODIFIER | c.561+4313A>C | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 8/24 | chr1 | 51456778 | |||||||
| chr1:51456963 | A | G | 14 | a0002c0004t0002g0004 a0002c0004t0002g0005 a0002c0004t0002g0006 others(11): Show |
14 | HG01167.hp2 HG01346.hp1 HG01891.hp1 others(11): Show |
intron_variant | MODIFIER | c.561+4128T>C | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 8/24 | chr1 | 51456963 | |||||||
| chr1:51456977 | G | C | 1 | a0001c0003t0001g0059 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.561+4114C>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 8/24 | chr1 | 51456977 | |||||||
| chr1:51456999 | G | C | 4 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(1): Show |
4 | HG00642.hp1 HG01257.hp2 HG03130.hp1 others(1): Show |
intron_variant | MODIFIER | c.561+4092C>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 8/24 | chr1 | 51456999 | |||||||
| chr1:51457057 | G | A | 1 | a0002c0001t0009g0116 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.561+4034C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 8/24 | chr1 | 51457057 | |||||||
| chr1:51457102 | A | G | 9 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(6): Show |
9 | HG00642.hp1 HG01109.hp2 HG01257.hp2 others(6): Show |
intron_variant | MODIFIER | c.561+3989T>C | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 8/24 | chr1 | 51457102 | |||||||
| chr1:51457113 | G | A | 2 | a0002c0004t0002g0009 a0002c0004t0002g0010 |
2 | HG02723.hp2 HG06807.hp2 |
intron_variant | MODIFIER | c.561+3978C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 8/24 | chr1 | 51457113 | |||||||
| chr1:51457201 | G | A | 1 | a0009c0009t0015g0125 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.561+3890C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 8/24 | chr1 | 51457201 | |||||||
| chr1:51457204 | G | A | 5 | a0001c0003t0001g0053 a0001c0003t0001g0058 a0001c0003t0001g0059 others(2): Show |
5 | HG00642.hp2 HG01884.hp1 HG02145.hp2 others(2): Show |
intron_variant | MODIFIER | c.561+3887C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 8/24 | chr1 | 51457204 | |||||||
| chr1:51457244 | G | A | 1 | a0002c0001t0004g0044 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.561+3847C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 8/24 | chr1 | 51457244 | |||||||
| chr1:51457266 | A | G | 13 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(10): Show |
13 | HG00642.hp1 HG00738.hp1 HG01109.hp2 others(10): Show |
intron_variant | MODIFIER | c.561+3825T>C | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 8/24 | chr1 | 51457266 | |||||||
| chr1:51457342 | A | G | 2 | a0002c0001t0014g0036 a0002c0001t0014g0037 |
2 | HG02451.hp2 HG02976.hp2 |
intron_variant | MODIFIER | c.561+3749T>C | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 8/24 | chr1 | 51457342 | |||||||
| chr1:51457510 | CT | C | 34 | a0001c0002t0017g0033 a0002c0001t0004g0018 a0002c0001t0004g0019 others(31): Show |
34 | HG00733.hp2 HG00735.hp1 HG00738.hp1 others(31): Show |
intron_variant | MODIFIER | c.561+3580delA | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 8/24 | chr1 | 51457510 | |||||||
| chr1:51457510 | CTT | C | 8 | a0001c0002t0002g0030 a0001c0002t0002g0031 a0002c0001t0005g0151 others(5): Show |
8 | HG01891.hp2 HG02258.hp2 HG02630.hp2 others(5): Show |
intron_variant | MODIFIER | c.561+3579_561+3580d others(4): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 8/24 | chr1 | 51457510 | |||||||
| chr1:51457510 | CTTT | C | 8 | a0002c0001t0006g0027 a0002c0001t0006g0029 a0002c0001t0009g0116 others(5): Show |
8 | HG00735.hp2 HG02572.hp1 HG03041.hp1 others(5): Show |
intron_variant | MODIFIER | c.561+3578_561+3580d others(5): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 8/24 | chr1 | 51457510 | |||||||
| chr1:51457535 | TC | T | 3 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 |
3 | HG00642.hp1 HG01257.hp2 NA20129.hp2 |
intron_variant | MODIFIER | c.561+3555delG | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 8/24 | chr1 | 51457535 | |||||||
| chr1:51457536 | C | T | 6 | a0002c0001t0011g0130 a0002c0001t0011g0131 a0002c0001t0011g0132 others(3): Show |
6 | HG01109.hp2 HG02559.hp2 HG03130.hp1 others(3): Show |
intron_variant | MODIFIER | c.561+3555G>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 8/24 | chr1 | 51457536 | |||||||
| chr1:51457560 | C | G | 3 | a0002c0001t0006g0027 a0002c0001t0006g0029 a0002c0001t0016g0028 |
3 | HG02572.hp1 HG03041.hp1 NA18522.hp2 |
intron_variant | MODIFIER | c.561+3531G>C | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 8/24 | chr1 | 51457560 | |||||||
| chr1:51457688 | T | C | 9 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(6): Show |
9 | HG00642.hp1 HG01109.hp2 HG01257.hp2 others(6): Show |
intron_variant | MODIFIER | c.561+3403A>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 8/24 | chr1 | 51457688 | |||||||
| chr1:51457942 | C | A | 76 | a0001c0002t0002g0030 a0001c0002t0002g0031 a0001c0002t0017g0033 others(73): Show |
76 | HG00642.hp1 HG00733.hp2 HG00735.hp1 others(73): Show |
intron_variant | MODIFIER | c.561+3149G>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 8/24 | chr1 | 51457942 | |||||||
| chr1:51458310 | TA | T | 9 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(6): Show |
9 | HG00642.hp1 HG01109.hp2 HG01257.hp2 others(6): Show |
intron_variant | MODIFIER | c.561+2780delT | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 8/24 | chr1 | 51458310 | |||||||
| chr1:51458487 | G | A | 9 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(6): Show |
9 | HG00642.hp1 HG01109.hp2 HG01257.hp2 others(6): Show |
intron_variant | MODIFIER | c.561+2604C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 8/24 | chr1 | 51458487 | |||||||
| chr1:51458519 | C | T | 5 | a0002c0001t0011g0130 a0002c0001t0011g0131 a0002c0001t0011g0132 others(2): Show |
5 | HG01109.hp2 HG02559.hp2 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.561+2572G>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 8/24 | chr1 | 51458519 | |||||||
| chr1:51458554 | C | T | 72 | a0002c0001t0004g0018 a0002c0001t0004g0019 a0002c0001t0004g0020 others(69): Show |
72 | HG00642.hp1 HG00733.hp2 HG00735.hp1 others(69): Show |
intron_variant | MODIFIER | c.561+2537G>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 8/24 | chr1 | 51458554 | |||||||
| chr1:51458557 | C | T | 2 | a0001c0003t0001g0059 a0001c0003t0003g0054 |
2 | HG01884.hp1 HG02145.hp2 |
intron_variant | MODIFIER | c.561+2534G>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 8/24 | chr1 | 51458557 | |||||||
| chr1:51458666 | G | A | 1 | a0001c0002t0003g0049 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.561+2425C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 8/24 | chr1 | 51458666 | |||||||
| chr1:51458750 | T | A | 1 | a0001c0002t0003g0092 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.561+2341A>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 8/24 | chr1 | 51458750 | |||||||
| chr1:51458792 | T | C | 5 | a0002c0001t0009g0116 a0002c0001t0009g0117 a0002c0001t0009g0118 others(2): Show |
5 | HG00735.hp2 HG03491.hp1 HG03492.hp2 others(2): Show |
intron_variant | MODIFIER | c.561+2299A>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 8/24 | chr1 | 51458792 | |||||||
| chr1:51458819 | C | T | 16 | a0002c0001t0005g0139 a0002c0001t0005g0140 a0002c0001t0005g0142 others(13): Show |
16 | HG01109.hp1 HG01175.hp1 HG01884.hp2 others(13): Show |
intron_variant | MODIFIER | c.561+2272G>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 8/24 | chr1 | 51458819 | |||||||
| chr1:51458847 | G | A | 4 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(1): Show |
4 | HG00642.hp1 HG01257.hp2 HG03130.hp1 others(1): Show |
intron_variant | MODIFIER | c.561+2244C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 8/24 | chr1 | 51458847 | |||||||
| chr1:51458963 | C | A | 7 | a0002c0001t0004g0042 a0002c0001t0004g0043 a0002c0001t0004g0044 others(4): Show |
7 | HG02109.hp2 HG02630.hp1 HG02717.hp2 others(4): Show |
intron_variant | MODIFIER | c.561+2128G>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 8/24 | chr1 | 51458963 | |||||||
| chr1:51459154 | G | A | 8 | a0002c0001t0004g0018 a0002c0001t0004g0019 a0002c0001t0004g0020 others(5): Show |
8 | HG00733.hp2 HG00735.hp1 HG01192.hp1 others(5): Show |
intron_variant | MODIFIER | c.561+1937C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 8/24 | chr1 | 51459154 | |||||||
| chr1:51459205 | A | G | 5 | a0002c0001t0011g0130 a0002c0001t0011g0131 a0002c0001t0011g0132 others(2): Show |
5 | HG01109.hp2 HG02559.hp2 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.561+1886T>C | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 8/24 | chr1 | 51459205 | |||||||
| chr1:51459347 | G | A | 9 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(6): Show |
9 | HG00642.hp1 HG01109.hp2 HG01257.hp2 others(6): Show |
intron_variant | MODIFIER | c.561+1744C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 8/24 | chr1 | 51459347 | |||||||
| chr1:51460149 | G | C | 1 | a0002c0001t0012g0002 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.561+942C>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 8/24 | chr1 | 51460149 | |||||||
| chr1:51460455 | G | A | 4 | a0002c0001t0010g0038 a0002c0001t0010g0039 a0002c0001t0010g0041 others(1): Show |
4 | HG02109.hp2 HG02717.hp2 HG02818.hp1 others(1): Show |
intron_variant | MODIFIER | c.561+636C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 8/24 | chr1 | 51460455 | |||||||
| chr1:51460815 | G | A | 1 | a0001c0002t0001g0103 | 1 | HG03491.hp2 | intron_variant | MODIFIER | c.561+276C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 8/24 | chr1 | 51460815 | |||||||
| chr1:51460959 | GA | G | 10 | a0002c0001t0004g0044 a0002c0001t0010g0038 a0002c0001t0010g0039 others(7): Show |
10 | HG01109.hp2 HG02109.hp2 HG02559.hp2 others(7): Show |
intron_variant | MODIFIER | c.561+131delT | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 8/24 | chr1 | 51460959 | |||||||
| chr1:51460993 | A | C | 1 | a0002c0001t0022g0115 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.561+98T>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 8/24 | chr1 | 51460993 | |||||||
| chr1:51461034 | T | C | 9 | a0002c0001t0006g0027 a0002c0001t0006g0029 a0002c0001t0006g0034 others(6): Show |
9 | HG02257.hp1 HG02572.hp1 HG03041.hp1 others(6): Show |
intron_variant | MODIFIER | c.561+57A>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 8/24 | chr1 | 51461034 | |||||||
| chr1:51461042 | G | C | 1 | a0001c0002t0001g0045 | 1 | HG02572.hp2 | intron_variant | MODIFIER | c.561+49C>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 8/24 | chr1 | 51461042 | |||||||
| chr1:51461237 | G | A | 3 | a0002c0001t0009g0117 a0002c0001t0009g0118 a0002c0001t0009g0119 |
3 | HG00735.hp2 HG03491.hp1 HG03492.hp2 |
intron_variant | MODIFIER | c.502-87C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 7/24 | chr1 | 51461237 | |||||||
| chr1:51461306 | C | G | 4 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(1): Show |
4 | HG00642.hp1 HG01257.hp2 HG03130.hp1 others(1): Show |
intron_variant | MODIFIER | c.502-156G>C | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 7/24 | chr1 | 51461306 | |||||||
| chr1:51461392 | C | G | 9 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(6): Show |
9 | HG00642.hp1 HG01109.hp2 HG01257.hp2 others(6): Show |
intron_variant | MODIFIER | c.502-242G>C | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 7/24 | chr1 | 51461392 | |||||||
| chr1:51461445 | T | C | 9 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(6): Show |
9 | HG00642.hp1 HG01109.hp2 HG01257.hp2 others(6): Show |
intron_variant | MODIFIER | c.502-295A>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 7/24 | chr1 | 51461445 | |||||||
| chr1:51461521 | T | TA | 21 | a0001c0002t0001g0045 a0001c0002t0001g0056 a0001c0002t0002g0030 others(18): Show |
21 | HG00642.hp2 HG01952.hp1 HG01952.hp2 others(18): Show |
intron_variant | MODIFIER | c.502-372dupT | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 7/24 | chr1 | 51461521 | |||||||
| chr1:51461521 | T | TAA | 21 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(18): Show |
21 | HG00642.hp1 HG00735.hp2 HG00738.hp1 others(18): Show |
intron_variant | MODIFIER | c.502-373_502-372dup others(2): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 7/24 | chr1 | 51461521 | |||||||
| chr1:51461521 | TA | T | 5 | a0001c0002t0001g0103 a0001c0002t0001g0105 a0001c0003t0001g0070 others(2): Show |
5 | HG01515.hp1 HG02109.hp1 HG03491.hp2 others(2): Show |
intron_variant | MODIFIER | c.502-372delT | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 7/24 | chr1 | 51461521 | |||||||
| chr1:51461521 | TAAAAAAA others(4): Show |
T | 16 | a0002c0001t0005g0139 a0002c0001t0005g0140 a0002c0001t0005g0142 others(13): Show |
16 | HG01109.hp1 HG01175.hp1 HG01884.hp2 others(13): Show |
intron_variant | MODIFIER | c.502-382_502-372del others(11): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 7/24 | chr1 | 51461521 | |||||||
| chr1:51461549 | T | G | 2 | a0002c0001t0006g0034 a0002c0001t0006g0035 |
2 | HG03098.hp1 NA18906.hp2 |
intron_variant | MODIFIER | c.502-399A>C | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 7/24 | chr1 | 51461549 | |||||||
| chr1:51461635 | T | C | 1 | a0002c0001t0012g0002 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.502-485A>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 7/24 | chr1 | 51461635 | |||||||
| chr1:51461990 | A | T | 1 | a0002c0001t0004g0019 | 1 | HG00733.hp2 | intron_variant | MODIFIER | c.502-840T>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 7/24 | chr1 | 51461990 | |||||||
| chr1:51462134 | A | G | 13 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(10): Show |
13 | HG00642.hp1 HG00738.hp1 HG01109.hp2 others(10): Show |
intron_variant | MODIFIER | c.502-984T>C | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 7/24 | chr1 | 51462134 | |||||||
| chr1:51462295 | A | G | 9 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(6): Show |
9 | HG00642.hp1 HG01109.hp2 HG01257.hp2 others(6): Show |
intron_variant | MODIFIER | c.502-1145T>C | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 7/24 | chr1 | 51462295 | |||||||
| chr1:51462320 | G | A | 4 | a0001c0002t0001g0104 a0001c0002t0001g0105 a0002c0001t0006g0034 others(1): Show |
4 | HG00639.hp1 HG03098.hp1 NA18906.hp2 others(1): Show |
intron_variant | MODIFIER | c.502-1170C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 7/24 | chr1 | 51462320 | |||||||
| chr1:51462371 | G | GA | 18 | a0002c0001t0005g0139 a0002c0001t0005g0140 a0002c0001t0005g0142 others(15): Show |
18 | HG00642.hp1 HG01109.hp1 HG01175.hp1 others(15): Show |
intron_variant | MODIFIER | c.502-1222dupT | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 7/24 | chr1 | 51462371 | |||||||
| chr1:51462371 | GA | G | 5 | a0002c0001t0009g0116 a0002c0001t0009g0117 a0002c0001t0009g0118 others(2): Show |
5 | HG00735.hp2 HG03491.hp1 HG03492.hp2 others(2): Show |
intron_variant | MODIFIER | c.502-1222delT | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 7/24 | chr1 | 51462371 | |||||||
| chr1:51462386 | A | G | 4 | a0002c0001t0008g0120 a0002c0001t0008g0121 a0002c0001t0008g0122 others(1): Show |
4 | HG00738.hp1 HG01516.hp1 HG01517.hp1 others(1): Show |
intron_variant | MODIFIER | c.502-1236T>C | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 7/24 | chr1 | 51462386 | |||||||
| chr1:51462416 | A | G | 2 | a0001c0002t0001g0101 a0001c0002t0020g0050 |
2 | HG01168.hp2 HG02738.hp1 |
intron_variant | MODIFIER | c.501+1257T>C | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 7/24 | chr1 | 51462416 | |||||||
| chr1:51462520 | A | C | 13 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(10): Show |
13 | HG00642.hp1 HG00738.hp1 HG01109.hp2 others(10): Show |
intron_variant | MODIFIER | c.501+1153T>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 7/24 | chr1 | 51462520 | |||||||
| chr1:51462616 | A | C | 1 | a0002c0001t0005g0140 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.501+1057T>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 7/24 | chr1 | 51462616 | |||||||
| chr1:51462728 | T | C | 2 | a0001c0002t0002g0030 a0001c0002t0002g0031 |
2 | HG02630.hp2 NA19240.hp1 |
intron_variant | MODIFIER | c.501+945A>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 7/24 | chr1 | 51462728 | |||||||
| chr1:51462831 | T | G | 4 | a0002c0001t0008g0120 a0002c0001t0008g0121 a0002c0001t0008g0122 others(1): Show |
4 | HG00738.hp1 HG01516.hp1 HG01517.hp1 others(1): Show |
intron_variant | MODIFIER | c.501+842A>C | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 7/24 | chr1 | 51462831 | |||||||
| chr1:51462870 | A | AT | 29 | a0001c0002t0001g0045 a0001c0002t0001g0100 a0001c0002t0001g0128 others(26): Show |
29 | HG00738.hp1 HG01109.hp1 HG01167.hp2 others(26): Show |
intron_variant | MODIFIER | c.501+802dupA | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 7/24 | chr1 | 51462870 | |||||||
| chr1:51462870 | A | ATTTTTTT others(3): Show |
2 | a0002c0001t0007g0133 a0002c0001t0007g0135 |
2 | HG00642.hp1 HG01257.hp2 |
intron_variant | MODIFIER | c.501+793_501+802dup others(10): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 7/24 | chr1 | 51462870 | |||||||
| chr1:51462870 | A | ATTTTTTT others(4): Show |
2 | a0002c0001t0007g0134 a0004c0010t0026g0129 |
2 | HG01109.hp2 NA20129.hp2 |
intron_variant | MODIFIER | c.501+792_501+802dup others(11): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 7/24 | chr1 | 51462870 | |||||||
| chr1:51462870 | A | ATTTTTTT others(5): Show |
2 | a0008c0012t0007g0136 a0010c0015t0011g0152 |
2 | HG03130.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.501+791_501+802dup others(12): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 7/24 | chr1 | 51462870 | |||||||
| chr1:51462870 | A | ATTTTTTT others(6): Show |
3 | a0002c0001t0011g0130 a0002c0001t0011g0131 a0002c0001t0011g0132 |
3 | HG02559.hp2 HG03195.hp1 HG03471.hp2 |
intron_variant | MODIFIER | c.501+790_501+802dup others(13): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 7/24 | chr1 | 51462870 | |||||||
| chr1:51462870 | AT | A | 24 | a0001c0002t0001g0056 a0001c0006t0001g0107 a0002c0001t0004g0018 others(21): Show |
24 | HG00733.hp2 HG00735.hp1 HG00735.hp2 others(21): Show |
intron_variant | MODIFIER | c.501+802delA | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 7/24 | chr1 | 51462870 | |||||||
| chr1:51462896 | C | T | 13 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(10): Show |
13 | HG00642.hp1 HG00738.hp1 HG01109.hp2 others(10): Show |
intron_variant | MODIFIER | c.501+777G>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 7/24 | chr1 | 51462896 | |||||||
| chr1:51462898 | A | G | 13 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(10): Show |
13 | HG00642.hp1 HG00738.hp1 HG01109.hp2 others(10): Show |
intron_variant | MODIFIER | c.501+775T>C | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 7/24 | chr1 | 51462898 | |||||||
| chr1:51462919 | C | T | 8 | a0002c0001t0004g0018 a0002c0001t0004g0019 a0002c0001t0004g0020 others(5): Show |
8 | HG00733.hp2 HG00735.hp1 HG01192.hp1 others(5): Show |
intron_variant | MODIFIER | c.501+754G>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 7/24 | chr1 | 51462919 | |||||||
| chr1:51462931 | T | C | 9 | a0002c0001t0006g0027 a0002c0001t0006g0029 a0002c0001t0006g0034 others(6): Show |
9 | HG02257.hp1 HG02572.hp1 HG03041.hp1 others(6): Show |
intron_variant | MODIFIER | c.501+742A>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 7/24 | chr1 | 51462931 | |||||||
| chr1:51463134 | C | T | 3 | a0002c0001t0006g0027 a0002c0001t0006g0029 a0002c0001t0016g0028 |
3 | HG02572.hp1 HG03041.hp1 NA18522.hp2 |
intron_variant | MODIFIER | c.501+539G>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 7/24 | chr1 | 51463134 | |||||||
| chr1:51463832 | TA | T | 76 | a0001c0002t0002g0030 a0001c0002t0002g0031 a0001c0002t0017g0033 others(73): Show |
76 | HG00642.hp1 HG00733.hp2 HG00735.hp1 others(73): Show |
intron_variant | MODIFIER | c.376-35delT | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 6/24 | chr1 | 51463832 | |||||||
| chr1:51464020 | G | A | 2 | a0002c0001t0004g0042 a0002c0001t0004g0043 |
2 | HG02630.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.376-222C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 6/24 | chr1 | 51464020 | |||||||
| chr1:51464106 | T | C | 4 | a0002c0001t0008g0120 a0002c0001t0008g0121 a0002c0001t0008g0122 others(1): Show |
4 | HG00738.hp1 HG01516.hp1 HG01517.hp1 others(1): Show |
intron_variant | MODIFIER | c.376-308A>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 6/24 | chr1 | 51464106 | |||||||
| chr1:51464150 | G | A | 14 | a0002c0001t0005g0139 a0002c0001t0005g0140 a0002c0001t0005g0142 others(11): Show |
14 | HG01109.hp1 HG01175.hp1 HG01884.hp2 others(11): Show |
intron_variant | MODIFIER | c.376-352C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 6/24 | chr1 | 51464150 | |||||||
| chr1:51464241 | A | AT | 2 | a0002c0001t0014g0036 a0002c0001t0014g0037 |
2 | HG02451.hp2 HG02976.hp2 |
intron_variant | MODIFIER | c.376-444_376-443ins others(1): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 6/24 | chr1 | 51464241 | |||||||
| chr1:51464242 | A | AT | 109 | a0001c0002t0001g0026 a0001c0002t0001g0045 a0001c0002t0001g0046 others(106): Show |
109 | HG00438.hp1 HG00438.hp2 HG00558.hp1 others(106): Show |
intron_variant | MODIFIER | c.376-445dupA | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 6/24 | chr1 | 51464242 | |||||||
| chr1:51464242 | A | T | 7 | a0002c0001t0009g0116 a0002c0001t0009g0117 a0002c0001t0009g0118 others(4): Show |
7 | HG00735.hp2 HG02451.hp2 HG02976.hp2 others(4): Show |
intron_variant | MODIFIER | c.376-444T>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 6/24 | chr1 | 51464242 | |||||||
| chr1:51464313 | C | T | 4 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(1): Show |
4 | HG00642.hp1 HG01257.hp2 HG03130.hp1 others(1): Show |
intron_variant | MODIFIER | c.376-515G>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 6/24 | chr1 | 51464313 | |||||||
| chr1:51464458 | T | C | 6 | a0002c0004t0002g0011 a0002c0004t0002g0012 a0002c0004t0002g0014 others(3): Show |
6 | HG01167.hp2 HG02486.hp2 HG02922.hp1 others(3): Show |
intron_variant | MODIFIER | c.376-660A>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 6/24 | chr1 | 51464458 | |||||||
| chr1:51464465 | C | T | 9 | a0002c0001t0006g0027 a0002c0001t0006g0029 a0002c0001t0006g0034 others(6): Show |
9 | HG02257.hp1 HG02572.hp1 HG03041.hp1 others(6): Show |
intron_variant | MODIFIER | c.376-667G>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 6/24 | chr1 | 51464465 | |||||||
| chr1:51464478 | G | T | 3 | a0002c0001t0012g0001 a0002c0001t0012g0002 a0002c0001t0012g0003 |
3 | HG02257.hp1 HG03139.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.376-680C>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 6/24 | chr1 | 51464478 | |||||||
| chr1:51464560 | A | C | 9 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(6): Show |
9 | HG00642.hp1 HG01109.hp2 HG01257.hp2 others(6): Show |
intron_variant | MODIFIER | c.375+701T>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 6/24 | chr1 | 51464560 | |||||||
| chr1:51464931 | C | A | 2 | a0002c0001t0012g0001 a0002c0001t0012g0003 |
2 | HG02257.hp1 HG03139.hp2 |
intron_variant | MODIFIER | c.375+330G>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 6/24 | chr1 | 51464931 | |||||||
| chr1:51464961 | T | G | 4 | a0002c0001t0008g0120 a0002c0001t0008g0121 a0002c0001t0008g0122 others(1): Show |
4 | HG00738.hp1 HG01516.hp1 HG01517.hp1 others(1): Show |
intron_variant | MODIFIER | c.375+300A>C | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 6/24 | chr1 | 51464961 | |||||||
| chr1:51464977 | C | T | 76 | a0001c0002t0002g0030 a0001c0002t0002g0031 a0001c0002t0017g0033 others(73): Show |
76 | HG00642.hp1 HG00733.hp2 HG00735.hp1 others(73): Show |
intron_variant | MODIFIER | c.375+284G>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 6/24 | chr1 | 51464977 | |||||||
| chr1:51465362 | T | A | 1 | a0001c0002t0001g0081 | 1 | HG03492.hp1 | intron_variant | MODIFIER | c.310-36A>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 5/24 | chr1 | 51465362 | |||||||
| chr1:51465417 | C | T | 9 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(6): Show |
9 | HG00642.hp1 HG01109.hp2 HG01257.hp2 others(6): Show |
intron_variant | MODIFIER | c.310-91G>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 5/24 | chr1 | 51465417 | |||||||
| chr1:51465452 | A | G | 1 | a0001c0002t0001g0101 | 1 | HG01168.hp2 | intron_variant | MODIFIER | c.310-126T>C | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 5/24 | chr1 | 51465452 | |||||||
| chr1:51465754 | T | C | 4 | a0002c0001t0008g0120 a0002c0001t0008g0121 a0002c0001t0008g0122 others(1): Show |
4 | HG00738.hp1 HG01516.hp1 HG01517.hp1 others(1): Show |
intron_variant | MODIFIER | c.310-428A>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 5/24 | chr1 | 51465754 | |||||||
| chr1:51465902 | G | A | 9 | a0002c0001t0006g0027 a0002c0001t0006g0029 a0002c0001t0006g0034 others(6): Show |
9 | HG02257.hp1 HG02572.hp1 HG03041.hp1 others(6): Show |
intron_variant | MODIFIER | c.310-576C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 5/24 | chr1 | 51465902 | |||||||
| chr1:51466490 | G | A | 4 | a0001c0002t0002g0030 a0001c0002t0002g0031 a0001c0002t0017g0033 others(1): Show |
4 | HG02630.hp2 HG02717.hp1 HG02976.hp1 others(1): Show |
intron_variant | MODIFIER | c.310-1164C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 5/24 | chr1 | 51466490 | |||||||
| chr1:51466623 | C | CA | 9 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(6): Show |
9 | HG00642.hp1 HG01109.hp2 HG01257.hp2 others(6): Show |
intron_variant | MODIFIER | c.310-1298dupT | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 5/24 | chr1 | 51466623 | |||||||
| chr1:51466633 | T | A | 4 | a0001c0002t0001g0026 a0001c0002t0001g0046 a0001c0002t0001g0047 others(1): Show |
4 | HG00639.hp2 HG02647.hp1 HG02818.hp2 others(1): Show |
intron_variant | MODIFIER | c.310-1307A>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 5/24 | chr1 | 51466633 | |||||||
| chr1:51466999 | A | G | 3 | a0001c0002t0001g0075 a0001c0002t0001g0126 a0001c0002t0001g0127 |
3 | HG00438.hp1 NA18747.hp1 NA19011.hp1 |
intron_variant | MODIFIER | c.309+1474T>C | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 5/24 | chr1 | 51466999 | |||||||
| chr1:51467575 | C | T | 9 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(6): Show |
9 | HG00642.hp1 HG01109.hp2 HG01257.hp2 others(6): Show |
intron_variant | MODIFIER | c.309+898G>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 5/24 | chr1 | 51467575 | |||||||
| chr1:51467588 | C | T | 1 | a0001c0002t0003g0084 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.309+885G>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 5/24 | chr1 | 51467588 | |||||||
| chr1:51467653 | A | T | 4 | a0002c0001t0008g0120 a0002c0001t0008g0121 a0002c0001t0008g0122 others(1): Show |
4 | HG00738.hp1 HG01516.hp1 HG01517.hp1 others(1): Show |
intron_variant | MODIFIER | c.309+820T>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 5/24 | chr1 | 51467653 | |||||||
| chr1:51467695 | C | T | 1 | a0001c0002t0001g0088 | 1 | NA18747.hp2 | intron_variant | MODIFIER | c.309+778G>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 5/24 | chr1 | 51467695 | |||||||
| chr1:51467779 | A | G | 2 | a0001c0002t0001g0079 a0001c0002t0001g0110 |
2 | HG04115.hp2 HG04228.hp2 |
intron_variant | MODIFIER | c.309+694T>C | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 5/24 | chr1 | 51467779 | |||||||
| chr1:51467964 | T | C | 9 | a0002c0001t0006g0027 a0002c0001t0006g0029 a0002c0001t0006g0034 others(6): Show |
9 | HG02257.hp1 HG02572.hp1 HG03041.hp1 others(6): Show |
intron_variant | MODIFIER | c.309+509A>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 5/24 | chr1 | 51467964 | |||||||
| chr1:51467969 | A | T | 10 | a0001c0002t0001g0101 a0002c0001t0004g0042 a0002c0001t0004g0043 others(7): Show |
10 | HG01168.hp2 HG01257.hp2 HG02109.hp2 others(7): Show |
intron_variant | MODIFIER | c.309+504T>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 5/24 | chr1 | 51467969 | |||||||
| chr1:51467971 | T | A | 2 | a0002c0001t0009g0116 a0002c0001t0022g0115 |
2 | HG06807.hp1 NA19030.hp2 |
intron_variant | MODIFIER | c.309+502A>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 5/24 | chr1 | 51467971 | |||||||
| chr1:51468017 | G | A | 4 | a0001c0002t0002g0030 a0001c0002t0002g0031 a0001c0002t0017g0033 others(1): Show |
4 | HG02630.hp2 HG02717.hp1 HG02976.hp1 others(1): Show |
intron_variant | MODIFIER | c.309+456C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 5/24 | chr1 | 51468017 | |||||||
| chr1:51468018 | G | A | 1 | a0001c0002t0001g0098 | 1 | HG03688.hp1 | intron_variant | MODIFIER | c.309+455C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 5/24 | chr1 | 51468018 | |||||||
| chr1:51468027 | C | T | 5 | a0002c0001t0011g0130 a0002c0001t0011g0131 a0002c0001t0011g0132 others(2): Show |
5 | HG01109.hp2 HG02559.hp2 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.309+446G>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 5/24 | chr1 | 51468027 | |||||||
| chr1:51468067 | T | C | 1 | a0001c0002t0017g0033 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.309+406A>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 5/24 | chr1 | 51468067 | |||||||
| chr1:51468102 | G | A | 2 | a0001c0002t0001g0104 a0001c0002t0001g0105 |
2 | HG00639.hp1 NA20752.hp1 |
intron_variant | MODIFIER | c.309+371C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 5/24 | chr1 | 51468102 | |||||||
| chr1:51468246 | A | C | 9 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(6): Show |
9 | HG00642.hp1 HG01109.hp2 HG01257.hp2 others(6): Show |
intron_variant | MODIFIER | c.309+227T>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 5/24 | chr1 | 51468246 | |||||||
| chr1:51468768 | CTAA | C | 4 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(1): Show |
4 | HG00642.hp1 HG01257.hp2 HG03130.hp1 others(1): Show |
intron_variant | MODIFIER | c.214-203_214-201del others(3): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 4/24 | chr1 | 51468768 | |||||||
| chr1:51468933 | A | G | 13 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(10): Show |
13 | HG00642.hp1 HG00738.hp1 HG01109.hp2 others(10): Show |
intron_variant | MODIFIER | c.214-365T>C | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 4/24 | chr1 | 51468933 | |||||||
| chr1:51468946 | G | A | 1 | a0002c0001t0004g0044 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.214-378C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 4/24 | chr1 | 51468946 | |||||||
| chr1:51469065 | G | C | 5 | a0002c0001t0011g0130 a0002c0001t0011g0131 a0002c0001t0011g0132 others(2): Show |
5 | HG01109.hp2 HG02559.hp2 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.214-497C>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 4/24 | chr1 | 51469065 | |||||||
| chr1:51469086 | G | C | 76 | a0001c0002t0002g0030 a0001c0002t0002g0031 a0001c0002t0017g0033 others(73): Show |
76 | HG00642.hp1 HG00733.hp2 HG00735.hp1 others(73): Show |
intron_variant | MODIFIER | c.214-518C>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 4/24 | chr1 | 51469086 | |||||||
| chr1:51469094 | C | T | 5 | a0001c0002t0001g0114 a0002c0001t0008g0120 a0002c0001t0008g0121 others(2): Show |
5 | HG00738.hp1 HG01516.hp1 HG01517.hp1 others(2): Show |
intron_variant | MODIFIER | c.214-526G>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 4/24 | chr1 | 51469094 | |||||||
| chr1:51469116 | C | G | 4 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(1): Show |
4 | HG00642.hp1 HG01257.hp2 HG03130.hp1 others(1): Show |
intron_variant | MODIFIER | c.214-548G>C | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 4/24 | chr1 | 51469116 | |||||||
| chr1:51469121 | CTG | C | 7 | a0002c0001t0004g0018 a0002c0001t0004g0019 a0002c0001t0004g0020 others(4): Show |
7 | HG00733.hp2 HG00735.hp1 HG01192.hp1 others(4): Show |
intron_variant | MODIFIER | c.214-555_214-554del others(2): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 4/24 | chr1 | 51469121 | |||||||
| chr1:51469167 | ATGATAT | A | 5 | a0002c0001t0011g0130 a0002c0001t0011g0131 a0002c0001t0011g0132 others(2): Show |
5 | HG01109.hp2 HG02559.hp2 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.214-605_214-600del others(6): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 4/24 | chr1 | 51469167 | |||||||
| chr1:51469326 | G | A | 2 | a0002c0001t0004g0042 a0002c0001t0004g0043 |
2 | HG02630.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.214-758C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 4/24 | chr1 | 51469326 | |||||||
| chr1:51469327 | C | T | 2 | a0002c0001t0009g0116 a0002c0001t0022g0115 |
2 | HG06807.hp1 NA19030.hp2 |
intron_variant | MODIFIER | c.214-759G>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 4/24 | chr1 | 51469327 | |||||||
| chr1:51469328 | A | G | 76 | a0001c0002t0002g0030 a0001c0002t0002g0031 a0001c0002t0017g0033 others(73): Show |
76 | HG00642.hp1 HG00733.hp2 HG00735.hp1 others(73): Show |
intron_variant | MODIFIER | c.214-760T>C | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 4/24 | chr1 | 51469328 | |||||||
| chr1:51469482 | T | C | 14 | a0002c0004t0002g0004 a0002c0004t0002g0005 a0002c0004t0002g0006 others(11): Show |
14 | HG01167.hp2 HG01346.hp1 HG01891.hp1 others(11): Show |
intron_variant | MODIFIER | c.214-914A>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 4/24 | chr1 | 51469482 | |||||||
| chr1:51469588 | G | A | 1 | a0001c0002t0001g0052 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.214-1020C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 4/24 | chr1 | 51469588 | |||||||
| chr1:51469608 | A | G | 1 | a0001c0002t0001g0075 | 1 | NA19011.hp1 | intron_variant | MODIFIER | c.214-1040T>C | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 4/24 | chr1 | 51469608 | |||||||
| chr1:51469672 | A | C | 4 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(1): Show |
4 | HG00642.hp1 HG01257.hp2 HG03130.hp1 others(1): Show |
intron_variant | MODIFIER | c.214-1104T>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 4/24 | chr1 | 51469672 | |||||||
| chr1:51469869 | T | TA | 5 | a0002c0001t0011g0130 a0002c0001t0011g0131 a0002c0001t0011g0132 others(2): Show |
5 | HG01109.hp2 HG02559.hp2 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.214-1302dupT | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 4/24 | chr1 | 51469869 | |||||||
| chr1:51470006 | C | T | 1 | a0001c0002t0018g0083 | 1 | NA18957.hp2 | intron_variant | MODIFIER | c.214-1438G>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 4/24 | chr1 | 51470006 | |||||||
| chr1:51470016 | C | T | 1 | a0001c0002t0003g0049 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.214-1448G>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 4/24 | chr1 | 51470016 | |||||||
| chr1:51470055 | T | C | 16 | a0002c0001t0005g0139 a0002c0001t0005g0140 a0002c0001t0005g0142 others(13): Show |
16 | HG01109.hp1 HG01175.hp1 HG01884.hp2 others(13): Show |
intron_variant | MODIFIER | c.214-1487A>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 4/24 | chr1 | 51470055 | |||||||
| chr1:51470363 | G | C | 1 | a0001c0002t0003g0084 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.213+1327C>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 4/24 | chr1 | 51470363 | |||||||
| chr1:51470462 | T | C | 5 | a0002c0001t0011g0130 a0002c0001t0011g0131 a0002c0001t0011g0132 others(2): Show |
5 | HG01109.hp2 HG02559.hp2 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.213+1228A>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 4/24 | chr1 | 51470462 | |||||||
| chr1:51470562 | G | A | 2 | a0002c0004t0002g0009 a0002c0004t0002g0010 |
2 | HG02723.hp2 HG06807.hp2 |
intron_variant | MODIFIER | c.213+1128C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 4/24 | chr1 | 51470562 | |||||||
| chr1:51470646 | C | CA | 9 | a0001c0002t0003g0074 a0002c0001t0007g0133 a0002c0001t0007g0134 others(6): Show |
9 | HG00642.hp1 HG01109.hp2 HG01257.hp2 others(6): Show |
intron_variant | MODIFIER | c.213+1043dupT | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 4/24 | chr1 | 51470646 | |||||||
| chr1:51470646 | CA | C | 86 | a0001c0002t0001g0045 a0001c0002t0001g0046 a0001c0002t0001g0047 others(83): Show |
86 | HG00438.hp1 HG00438.hp2 HG00558.hp1 others(83): Show |
intron_variant | MODIFIER | c.213+1043delT | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 4/24 | chr1 | 51470646 | |||||||
| chr1:51470646 | CAA | C | 25 | a0002c0001t0004g0042 a0002c0001t0004g0043 a0002c0001t0005g0139 others(22): Show |
25 | HG00735.hp2 HG01109.hp1 HG01175.hp1 others(22): Show |
intron_variant | MODIFIER | c.213+1042_213+1043d others(4): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 4/24 | chr1 | 51470646 | |||||||
| chr1:51470868 | T | C | 2 | a0001c0002t0001g0079 a0001c0002t0001g0110 |
2 | HG04115.hp2 HG04228.hp2 |
intron_variant | MODIFIER | c.213+822A>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 4/24 | chr1 | 51470868 | |||||||
| chr1:51470960 | C | G | 4 | a0002c0001t0008g0120 a0002c0001t0008g0121 a0002c0001t0008g0122 others(1): Show |
4 | HG00738.hp1 HG01516.hp1 HG01517.hp1 others(1): Show |
intron_variant | MODIFIER | c.213+730G>C | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 4/24 | chr1 | 51470960 | |||||||
| chr1:51471075 | C | T | 1 | a0001c0003t0001g0106 | 1 | HG03834.hp2 | intron_variant | MODIFIER | c.213+615G>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 4/24 | chr1 | 51471075 | |||||||
| chr1:51471290 | G | A | 1 | a0002c0001t0005g0140 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.213+400C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 4/24 | chr1 | 51471290 | |||||||
| chr1:51471484 | G | A | 4 | a0002c0001t0008g0120 a0002c0001t0008g0121 a0002c0001t0008g0122 others(1): Show |
4 | HG00738.hp1 HG01516.hp1 HG01517.hp1 others(1): Show |
intron_variant | MODIFIER | c.213+206C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 4/24 | chr1 | 51471484 | |||||||
| chr1:51472008 | A | AT | 11 | a0001c0003t0001g0109 a0002c0001t0008g0120 a0002c0001t0008g0121 others(8): Show |
11 | HG00735.hp2 HG00738.hp1 HG01346.hp2 others(8): Show |
intron_variant | MODIFIER | c.166-272dupA | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 3/24 | chr1 | 51472008 | |||||||
| chr1:51472008 | AT | A | 9 | a0002c0001t0004g0043 a0002c0001t0006g0027 a0002c0001t0006g0029 others(6): Show |
9 | HG01109.hp2 HG02559.hp2 HG02572.hp1 others(6): Show |
intron_variant | MODIFIER | c.166-272delA | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 3/24 | chr1 | 51472008 | |||||||
| chr1:51472037 | A | T | 9 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(6): Show |
9 | HG00642.hp1 HG01109.hp2 HG01257.hp2 others(6): Show |
intron_variant | MODIFIER | c.166-300T>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 3/24 | chr1 | 51472037 | |||||||
| chr1:51472118 | A | G | 5 | a0002c0001t0009g0116 a0002c0001t0009g0117 a0002c0001t0009g0118 others(2): Show |
5 | HG00735.hp2 HG03491.hp1 HG03492.hp2 others(2): Show |
intron_variant | MODIFIER | c.166-381T>C | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 3/24 | chr1 | 51472118 | |||||||
| chr1:51472270 | C | T | 3 | a0002c0001t0010g0038 a0002c0001t0010g0041 a0002c0007t0010g0040 |
3 | HG02109.hp2 HG02717.hp2 HG03209.hp2 |
intron_variant | MODIFIER | c.166-533G>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 3/24 | chr1 | 51472270 | |||||||
| chr1:51472279 | A | G | 5 | a0002c0001t0011g0130 a0002c0001t0011g0131 a0002c0001t0011g0132 others(2): Show |
5 | HG01109.hp2 HG02559.hp2 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.166-542T>C | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 3/24 | chr1 | 51472279 | |||||||
| chr1:51472427 | A | G | 72 | a0002c0001t0004g0018 a0002c0001t0004g0019 a0002c0001t0004g0020 others(69): Show |
72 | HG00642.hp1 HG00733.hp2 HG00735.hp1 others(69): Show |
intron_variant | MODIFIER | c.165+432T>C | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 3/24 | chr1 | 51472427 | |||||||
| chr1:51472429 | A | G | 3 | a0002c0001t0012g0001 a0002c0001t0012g0002 a0002c0001t0012g0003 |
3 | HG02257.hp1 HG03139.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.165+430T>C | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 3/24 | chr1 | 51472429 | |||||||
| chr1:51472502 | T | C | 2 | a0002c0001t0009g0116 a0002c0001t0022g0115 |
2 | HG06807.hp1 NA19030.hp2 |
intron_variant | MODIFIER | c.165+357A>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 3/24 | chr1 | 51472502 | |||||||
| chr1:51472510 | A | T | 9 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(6): Show |
9 | HG00642.hp1 HG01109.hp2 HG01257.hp2 others(6): Show |
intron_variant | MODIFIER | c.165+349T>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 3/24 | chr1 | 51472510 | |||||||
| chr1:51472522 | G | A | 1 | a0002c0001t0010g0039 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.165+337C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 3/24 | chr1 | 51472522 | |||||||
| chr1:51472563 | G | C | 3 | a0001c0002t0003g0072 a0001c0002t0003g0073 a0001c0002t0003g0087 |
3 | HG02647.hp2 HG03130.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.165+296C>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 3/24 | chr1 | 51472563 | |||||||
| chr1:51472967 | G | A | 9 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(6): Show |
9 | HG00642.hp1 HG01109.hp2 HG01257.hp2 others(6): Show |
intron_variant | MODIFIER | c.76-19C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 2/24 | chr1 | 51472967 | |||||||
| chr1:51473020 | C | T | 2 | a0002c0001t0010g0038 a0002c0001t0010g0041 |
2 | HG02717.hp2 HG03209.hp2 |
intron_variant | MODIFIER | c.76-72G>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 2/24 | chr1 | 51473020 | |||||||
| chr1:51473176 | C | T | 14 | a0002c0001t0005g0139 a0002c0001t0005g0140 a0002c0001t0005g0142 others(11): Show |
14 | HG01109.hp1 HG01175.hp1 HG01884.hp2 others(11): Show |
intron_variant | MODIFIER | c.76-228G>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 2/24 | chr1 | 51473176 | |||||||
| chr1:51473516 | G | C | 4 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(1): Show |
4 | HG00642.hp1 HG01257.hp2 HG03130.hp1 others(1): Show |
intron_variant | MODIFIER | c.76-568C>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 2/24 | chr1 | 51473516 | |||||||
| chr1:51473525 | C | T | 72 | a0002c0001t0004g0018 a0002c0001t0004g0019 a0002c0001t0004g0020 others(69): Show |
72 | HG00642.hp1 HG00733.hp2 HG00735.hp1 others(69): Show |
intron_variant | MODIFIER | c.76-577G>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 2/24 | chr1 | 51473525 | |||||||
| chr1:51473587 | C | A | 9 | a0002c0001t0006g0027 a0002c0001t0006g0029 a0002c0001t0006g0034 others(6): Show |
9 | HG02257.hp1 HG02572.hp1 HG03041.hp1 others(6): Show |
intron_variant | MODIFIER | c.76-639G>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 2/24 | chr1 | 51473587 | |||||||
| chr1:51473596 | AAAC | A | 2 | a0002c0001t0004g0042 a0002c0001t0004g0043 |
2 | HG02630.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.76-651_76-649delGT others(1): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 2/24 | chr1 | 51473596 | |||||||
| chr1:51473599 | C | CA | 4 | a0002c0001t0008g0120 a0002c0001t0008g0121 a0002c0001t0008g0122 others(1): Show |
4 | HG00738.hp1 HG01516.hp1 HG01517.hp1 others(1): Show |
intron_variant | MODIFIER | c.76-652dupT | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 2/24 | chr1 | 51473599 | |||||||
| chr1:51473653 | A | T | 2 | a0001c0002t0003g0086 a0001c0002t0003g0090 |
2 | HG02559.hp1 HG02723.hp1 |
intron_variant | MODIFIER | c.76-705T>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 2/24 | chr1 | 51473653 | |||||||
| chr1:51473928 | T | C | 1 | a0002c0004t0002g0007 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.76-980A>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 2/24 | chr1 | 51473928 | |||||||
| chr1:51474127 | T | C | 7 | a0002c0001t0004g0018 a0002c0001t0004g0019 a0002c0001t0004g0020 others(4): Show |
7 | HG00733.hp2 HG00735.hp1 HG01192.hp1 others(4): Show |
intron_variant | MODIFIER | c.76-1179A>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 2/24 | chr1 | 51474127 | |||||||
| chr1:51474579 | T | C | 3 | a0001c0003t0001g0063 a0001c0003t0001g0095 a0001c0003t0001g0106 |
3 | HG01167.hp1 HG01952.hp2 HG03834.hp2 |
intron_variant | MODIFIER | c.76-1631A>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 2/24 | chr1 | 51474579 | |||||||
| chr1:51474680 | T | A | 29 | a0001c0003t0001g0053 a0001c0003t0001g0058 a0001c0003t0001g0059 others(26): Show |
29 | HG00642.hp1 HG00642.hp2 HG00733.hp1 others(26): Show |
intron_variant | MODIFIER | c.76-1732A>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 2/24 | chr1 | 51474680 | |||||||
| chr1:51474716 | T | G | 1 | a0001c0002t0001g0113 | 1 | NA18957.hp1 | intron_variant | MODIFIER | c.76-1768A>C | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 2/24 | chr1 | 51474716 | |||||||
| chr1:51474744 | C | T | 2 | a0002c0001t0014g0036 a0002c0001t0014g0037 |
2 | HG02451.hp2 HG02976.hp2 |
intron_variant | MODIFIER | c.76-1796G>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 2/24 | chr1 | 51474744 | |||||||
| chr1:51474846 | A | G | 9 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(6): Show |
9 | HG00642.hp1 HG01109.hp2 HG01257.hp2 others(6): Show |
intron_variant | MODIFIER | c.76-1898T>C | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 2/24 | chr1 | 51474846 | |||||||
| chr1:51474891 | T | C | 76 | a0001c0002t0002g0030 a0001c0002t0002g0031 a0001c0002t0017g0033 others(73): Show |
76 | HG00642.hp1 HG00733.hp2 HG00735.hp1 others(73): Show |
intron_variant | MODIFIER | c.76-1943A>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 2/24 | chr1 | 51474891 | |||||||
| chr1:51474935 | G | C | 4 | a0002c0001t0012g0001 a0002c0001t0012g0002 a0002c0001t0012g0003 others(1): Show |
4 | HG02257.hp1 HG03139.hp2 HG03486.hp1 others(1): Show |
intron_variant | MODIFIER | c.76-1987C>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 2/24 | chr1 | 51474935 | |||||||
| chr1:51475207 | C | T | 9 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(6): Show |
9 | HG00642.hp1 HG01109.hp2 HG01257.hp2 others(6): Show |
intron_variant | MODIFIER | c.76-2259G>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 2/24 | chr1 | 51475207 | |||||||
| chr1:51475212 | G | A | 2 | a0002c0001t0014g0036 a0002c0001t0014g0037 |
2 | HG02451.hp2 HG02976.hp2 |
intron_variant | MODIFIER | c.76-2264C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 2/24 | chr1 | 51475212 | |||||||
| chr1:51475332 | CTCTAACA | C | 3 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 |
3 | HG00642.hp1 HG01257.hp2 NA20129.hp2 |
intron_variant | MODIFIER | c.76-2391_76-2385del others(7): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 2/24 | chr1 | 51475332 | |||||||
| chr1:51475364 | C | T | 1 | a0001c0002t0003g0092 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.76-2416G>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 2/24 | chr1 | 51475364 | |||||||
| chr1:51475470 | A | G | 1 | a0001c0002t0001g0045 | 1 | HG02572.hp2 | intron_variant | MODIFIER | c.76-2522T>C | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 2/24 | chr1 | 51475470 | |||||||
| chr1:51475665 | T | C | 76 | a0001c0002t0002g0030 a0001c0002t0002g0031 a0001c0002t0017g0033 others(73): Show |
76 | HG00642.hp1 HG00733.hp2 HG00735.hp1 others(73): Show |
intron_variant | MODIFIER | c.76-2717A>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 2/24 | chr1 | 51475665 | |||||||
| chr1:51475832 | TAATCCAT others(4): Show |
T | 1 | a0001c0002t0001g0114 | 1 | HG04204.hp1 | intron_variant | MODIFIER | c.76-2895_76-2885del others(11): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 2/24 | chr1 | 51475832 | |||||||
| chr1:51475839 | T | C | 17 | a0002c0001t0004g0018 a0002c0001t0004g0019 a0002c0001t0004g0020 others(14): Show |
17 | HG00642.hp1 HG00733.hp2 HG00735.hp1 others(14): Show |
intron_variant | MODIFIER | c.76-2891A>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 2/24 | chr1 | 51475839 | |||||||
| chr1:51476517 | T | C | 4 | a0002c0001t0008g0120 a0002c0001t0008g0121 a0002c0001t0008g0122 others(1): Show |
4 | HG00738.hp1 HG01516.hp1 HG01517.hp1 others(1): Show |
intron_variant | MODIFIER | c.76-3569A>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 2/24 | chr1 | 51476517 | |||||||
| chr1:51476566 | C | T | 1 | a0002c0001t0005g0142 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.76-3618G>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 2/24 | chr1 | 51476566 | |||||||
| chr1:51476661 | T | C | 1 | a0002c0001t0005g0142 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.76-3713A>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 2/24 | chr1 | 51476661 | |||||||
| chr1:51476775 | G | C | 1 | a0001c0003t0001g0106 | 1 | HG03834.hp2 | intron_variant | MODIFIER | c.76-3827C>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 2/24 | chr1 | 51476775 | |||||||
| chr1:51476802 | A | G | 9 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(6): Show |
9 | HG00642.hp1 HG01109.hp2 HG01257.hp2 others(6): Show |
intron_variant | MODIFIER | c.76-3854T>C | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 2/24 | chr1 | 51476802 | |||||||
| chr1:51476928 | G | T | 2 | a0002c0001t0009g0116 a0002c0001t0022g0115 |
2 | HG06807.hp1 NA19030.hp2 |
intron_variant | MODIFIER | c.76-3980C>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 2/24 | chr1 | 51476928 | |||||||
| chr1:51477010 | A | C | 1 | a0001c0002t0001g0113 | 1 | NA18957.hp1 | intron_variant | MODIFIER | c.76-4062T>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 2/24 | chr1 | 51477010 | |||||||
| chr1:51477019 | A | C | 4 | a0002c0001t0008g0120 a0002c0001t0008g0121 a0002c0001t0008g0122 others(1): Show |
4 | HG00738.hp1 HG01516.hp1 HG01517.hp1 others(1): Show |
intron_variant | MODIFIER | c.76-4071T>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 2/24 | chr1 | 51477019 | |||||||
| chr1:51477157 | A | T | 4 | a0001c0002t0002g0030 a0001c0002t0002g0031 a0001c0002t0017g0033 others(1): Show |
4 | HG02630.hp2 HG02717.hp1 HG02976.hp1 others(1): Show |
intron_variant | MODIFIER | c.75+4116T>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 2/24 | chr1 | 51477157 | |||||||
| chr1:51477238 | C | T | 8 | a0002c0001t0004g0018 a0002c0001t0004g0019 a0002c0001t0004g0020 others(5): Show |
8 | HG00733.hp2 HG00735.hp1 HG01192.hp1 others(5): Show |
intron_variant | MODIFIER | c.75+4035G>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 2/24 | chr1 | 51477238 | |||||||
| chr1:51477239 | A | G | 8 | a0002c0001t0004g0018 a0002c0001t0004g0019 a0002c0001t0004g0020 others(5): Show |
8 | HG00733.hp2 HG00735.hp1 HG01192.hp1 others(5): Show |
intron_variant | MODIFIER | c.75+4034T>C | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 2/24 | chr1 | 51477239 | |||||||
| chr1:51477381 | T | C | 1 | a0001c0002t0001g0098 | 1 | HG03688.hp1 | intron_variant | MODIFIER | c.75+3892A>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 2/24 | chr1 | 51477381 | |||||||
| chr1:51477638 | G | A | 1 | a0001c0002t0019g0055 | 1 | HG00558.hp2 | intron_variant | MODIFIER | c.75+3635C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 2/24 | chr1 | 51477638 | |||||||
| chr1:51477658 | T | C | 1 | a0001c0003t0001g0064 | 1 | HG00738.hp2 | intron_variant | MODIFIER | c.75+3615A>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 2/24 | chr1 | 51477658 | |||||||
| chr1:51477661 | T | G | 1 | a0001c0002t0019g0055 | 1 | HG00558.hp2 | intron_variant | MODIFIER | c.75+3612A>C | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 2/24 | chr1 | 51477661 | |||||||
| chr1:51477964 | T | C | 1 | a0001c0002t0001g0098 | 1 | HG03688.hp1 | intron_variant | MODIFIER | c.75+3309A>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 2/24 | chr1 | 51477964 | |||||||
| chr1:51478017 | G | T | 2 | a0001c0003t0001g0062 a0001c0003t0001g0091 |
2 | HG01074.hp1 HG01168.hp1 |
intron_variant | MODIFIER | c.75+3256C>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 2/24 | chr1 | 51478017 | |||||||
| chr1:51478075 | C | T | 14 | a0002c0004t0002g0004 a0002c0004t0002g0005 a0002c0004t0002g0006 others(11): Show |
14 | HG01167.hp2 HG01346.hp1 HG01891.hp1 others(11): Show |
intron_variant | MODIFIER | c.75+3198G>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 2/24 | chr1 | 51478075 | |||||||
| chr1:51478199 | C | T | 4 | a0002c0001t0005g0139 a0002c0001t0005g0140 a0002c0001t0005g0148 others(1): Show |
4 | HG02257.hp2 HG02486.hp1 HG03209.hp1 others(1): Show |
intron_variant | MODIFIER | c.75+3074G>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 2/24 | chr1 | 51478199 | |||||||
| chr1:51478204 | T | C | 1 | a0001c0002t0001g0126 | 1 | NA18747.hp1 | intron_variant | MODIFIER | c.75+3069A>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 2/24 | chr1 | 51478204 | |||||||
| chr1:51478232 | C | G | 1 | a0004c0010t0026g0129 | 1 | HG01109.hp2 | intron_variant | MODIFIER | c.75+3041G>C | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 2/24 | chr1 | 51478232 | |||||||
| chr1:51478262 | C | G | 1 | a0002c0001t0007g0133 | 1 | HG00642.hp1 | intron_variant | MODIFIER | c.75+3011G>C | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 2/24 | chr1 | 51478262 | |||||||
| chr1:51478398 | C | A | 1 | a0001c0002t0001g0103 | 1 | HG03491.hp2 | intron_variant | MODIFIER | c.75+2875G>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 2/24 | chr1 | 51478398 | |||||||
| chr1:51478537 | T | C | 11 | a0002c0004t0002g0004 a0002c0004t0002g0005 a0002c0004t0002g0006 others(8): Show |
11 | HG01167.hp2 HG01346.hp1 HG02486.hp2 others(8): Show |
intron_variant | MODIFIER | c.75+2736A>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 2/24 | chr1 | 51478537 | |||||||
| chr1:51478595 | G | A | 2 | a0001c0003t0001g0059 a0001c0003t0003g0054 |
2 | HG01884.hp1 HG02145.hp2 |
intron_variant | MODIFIER | c.75+2678C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 2/24 | chr1 | 51478595 | |||||||
| chr1:51478824 | A | C | 13 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(10): Show |
13 | HG00642.hp1 HG00738.hp1 HG01109.hp2 others(10): Show |
intron_variant | MODIFIER | c.75+2449T>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 2/24 | chr1 | 51478824 | |||||||
| chr1:51478860 | G | A | 1 | a0002c0001t0023g0150 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.75+2413C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 2/24 | chr1 | 51478860 | |||||||
| chr1:51478970 | A | G | 9 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(6): Show |
9 | HG00642.hp1 HG01109.hp2 HG01257.hp2 others(6): Show |
intron_variant | MODIFIER | c.75+2303T>C | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 2/24 | chr1 | 51478970 | |||||||
| chr1:51479138 | T | C | 1 | a0001c0002t0001g0128 | 1 | NA19011.hp2 | intron_variant | MODIFIER | c.75+2135A>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 2/24 | chr1 | 51479138 | |||||||
| chr1:51479151 | C | T | 2 | a0002c0001t0004g0018 a0002c0001t0004g0021 |
2 | HG00735.hp1 HG01192.hp1 |
intron_variant | MODIFIER | c.75+2122G>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 2/24 | chr1 | 51479151 | |||||||
| chr1:51479172 | C | T | 1 | a0002c0001t0012g0001 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.75+2101G>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 2/24 | chr1 | 51479172 | |||||||
| chr1:51479190 | G | A | 4 | a0002c0001t0010g0038 a0002c0001t0010g0039 a0002c0001t0010g0041 others(1): Show |
4 | HG02109.hp2 HG02717.hp2 HG02818.hp1 others(1): Show |
intron_variant | MODIFIER | c.75+2083C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 2/24 | chr1 | 51479190 | |||||||
| chr1:51479224 | T | C | 13 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(10): Show |
13 | HG00642.hp1 HG00738.hp1 HG01109.hp2 others(10): Show |
intron_variant | MODIFIER | c.75+2049A>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 2/24 | chr1 | 51479224 | |||||||
| chr1:51479264 | T | A | 13 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(10): Show |
13 | HG00642.hp1 HG00738.hp1 HG01109.hp2 others(10): Show |
intron_variant | MODIFIER | c.75+2009A>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 2/24 | chr1 | 51479264 | |||||||
| chr1:51479460 | C | T | 1 | a0002c0001t0010g0039 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.75+1813G>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 2/24 | chr1 | 51479460 | |||||||
| chr1:51479576 | T | TC | 16 | a0002c0001t0005g0139 a0002c0001t0005g0140 a0002c0001t0005g0142 others(13): Show |
16 | HG01109.hp1 HG01175.hp1 HG01884.hp2 others(13): Show |
intron_variant | MODIFIER | c.75+1696dupG | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 2/24 | chr1 | 51479576 | |||||||
| chr1:51479672 | A | G | 2 | a0002c0001t0006g0034 a0002c0001t0006g0035 |
2 | HG03098.hp1 NA18906.hp2 |
intron_variant | MODIFIER | c.75+1601T>C | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 2/24 | chr1 | 51479672 | |||||||
| chr1:51479693 | G | A | 4 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(1): Show |
4 | HG00642.hp1 HG01257.hp2 HG03130.hp1 others(1): Show |
intron_variant | MODIFIER | c.75+1580C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 2/24 | chr1 | 51479693 | |||||||
| chr1:51480186 | C | T | 1 | a0001c0002t0017g0033 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.75+1087G>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 2/24 | chr1 | 51480186 | |||||||
| chr1:51480323 | C | T | 1 | a0002c0001t0022g0115 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.75+950G>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 2/24 | chr1 | 51480323 | |||||||
| chr1:51480604 | C | T | 4 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(1): Show |
4 | HG00642.hp1 HG01257.hp2 HG03130.hp1 others(1): Show |
intron_variant | MODIFIER | c.75+669G>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 2/24 | chr1 | 51480604 | |||||||
| chr1:51480794 | G | A | 14 | a0002c0004t0002g0004 a0002c0004t0002g0005 a0002c0004t0002g0006 others(11): Show |
14 | HG01167.hp2 HG01346.hp1 HG01891.hp1 others(11): Show |
intron_variant | MODIFIER | c.75+479C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 2/24 | chr1 | 51480794 | |||||||
| chr1:51480877 | T | C | 4 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(1): Show |
4 | HG00642.hp1 HG01257.hp2 HG03130.hp1 others(1): Show |
intron_variant | MODIFIER | c.75+396A>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 2/24 | chr1 | 51480877 | |||||||
| chr1:51480988 | T | A | 4 | a0002c0001t0008g0120 a0002c0001t0008g0121 a0002c0001t0008g0122 others(1): Show |
4 | HG00738.hp1 HG01516.hp1 HG01517.hp1 others(1): Show |
intron_variant | MODIFIER | c.75+285A>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 2/24 | chr1 | 51480988 | |||||||
| chr1:51481021 | A | G | 4 | a0002c0001t0010g0038 a0002c0001t0010g0039 a0002c0001t0010g0041 others(1): Show |
4 | HG02109.hp2 HG02717.hp2 HG02818.hp1 others(1): Show |
intron_variant | MODIFIER | c.75+252T>C | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 2/24 | chr1 | 51481021 | |||||||
| chr1:51481113 | G | A | 14 | a0002c0001t0005g0139 a0002c0001t0005g0140 a0002c0001t0005g0142 others(11): Show |
14 | HG01109.hp1 HG01175.hp1 HG01884.hp2 others(11): Show |
intron_variant | MODIFIER | c.75+160C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 2/24 | chr1 | 51481113 | |||||||
| chr1:51481184 | G | A | 3 | a0001c0002t0002g0030 a0001c0002t0002g0031 a0002c0001t0004g0044 |
3 | HG02630.hp2 HG03453.hp2 NA19240.hp1 |
intron_variant | MODIFIER | c.75+89C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 2/24 | chr1 | 51481184 | |||||||
| chr1:51481479 | T | C | 7 | a0002c0001t0005g0139 a0002c0001t0005g0140 a0002c0001t0005g0142 others(4): Show |
7 | HG01175.hp1 HG02055.hp2 HG02257.hp2 others(4): Show |
intron_variant | MODIFIER | c.34-165A>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51481479 | |||||||
| chr1:51481844 | C | A | 3 | a0002c0001t0005g0142 a0002c0001t0023g0150 a0002c0001t0024g0141 |
3 | HG01175.hp1 HG02055.hp2 HG02258.hp2 |
intron_variant | MODIFIER | c.34-530G>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51481844 | |||||||
| chr1:51481863 | T | C | 1 | a0002c0004t0002g0005 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.34-549A>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51481863 | |||||||
| chr1:51481951 | C | A | 20 | a0002c0001t0004g0018 a0002c0001t0004g0019 a0002c0001t0004g0020 others(17): Show |
20 | HG00733.hp2 HG00735.hp1 HG00735.hp2 others(17): Show |
intron_variant | MODIFIER | c.34-637G>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51481951 | |||||||
| chr1:51482254 | G | C | 1 | a0002c0001t0004g0025 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.34-940C>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51482254 | |||||||
| chr1:51482435 | A | C | 4 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(1): Show |
4 | HG00642.hp1 HG01257.hp2 HG03130.hp1 others(1): Show |
intron_variant | MODIFIER | c.34-1121T>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51482435 | |||||||
| chr1:51482622 | T | C | 72 | a0002c0001t0004g0018 a0002c0001t0004g0019 a0002c0001t0004g0020 others(69): Show |
72 | HG00642.hp1 HG00733.hp2 HG00735.hp1 others(69): Show |
intron_variant | MODIFIER | c.34-1308A>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51482622 | |||||||
| chr1:51482669 | T | C | 1 | a0002c0001t0010g0039 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.34-1355A>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51482669 | |||||||
| chr1:51482685 | C | T | 4 | a0001c0002t0001g0026 a0001c0002t0001g0046 a0001c0002t0001g0047 others(1): Show |
4 | HG00639.hp2 HG02647.hp1 HG02818.hp2 others(1): Show |
intron_variant | MODIFIER | c.34-1371G>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51482685 | |||||||
| chr1:51483064 | C | T | 4 | a0001c0002t0002g0030 a0001c0002t0002g0031 a0001c0002t0017g0033 others(1): Show |
4 | HG02630.hp2 HG02717.hp1 HG02976.hp1 others(1): Show |
intron_variant | MODIFIER | c.34-1750G>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51483064 | |||||||
| chr1:51483151 | C | T | 2 | a0002c0001t0006g0034 a0002c0001t0006g0035 |
2 | HG03098.hp1 NA18906.hp2 |
intron_variant | MODIFIER | c.34-1837G>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51483151 | |||||||
| chr1:51483163 | A | C | 2 | a0002c0001t0006g0034 a0002c0001t0006g0035 |
2 | HG03098.hp1 NA18906.hp2 |
intron_variant | MODIFIER | c.34-1849T>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51483163 | |||||||
| chr1:51483398 | A | AGT | 44 | a0001c0002t0001g0045 a0001c0002t0001g0051 a0001c0002t0001g0052 others(41): Show |
44 | HG00438.hp2 HG00558.hp1 HG00558.hp2 others(41): Show |
intron_variant | MODIFIER | c.34-2086_34-2085dup others(2): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51483398 | |||||||
| chr1:51483398 | A | AGTGT | 9 | a0001c0002t0001g0104 a0001c0002t0013g0102 a0001c0002t0018g0083 others(6): Show |
9 | HG00639.hp1 HG00733.hp1 HG00738.hp2 others(6): Show |
intron_variant | MODIFIER | c.34-2088_34-2085dup others(4): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51483398 | |||||||
| chr1:51483398 | A | AGTGTGT | 7 | a0001c0002t0001g0056 a0001c0002t0001g0081 a0001c0003t0001g0053 others(4): Show |
7 | HG00642.hp2 HG01192.hp2 HG02258.hp1 others(4): Show |
intron_variant | MODIFIER | c.34-2090_34-2085dup others(6): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51483398 | |||||||
| chr1:51483398 | A | AGTGTGTG others(3): Show |
1 | a0002c0001t0022g0115 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.34-2094_34-2085dup others(10): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51483398 | |||||||
| chr1:51483398 | AGT | A | 10 | a0001c0002t0003g0084 a0002c0001t0004g0018 a0002c0001t0004g0019 others(7): Show |
10 | HG00733.hp2 HG00735.hp1 HG01192.hp1 others(7): Show |
intron_variant | MODIFIER | c.34-2086_34-2085del others(2): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51483398 | |||||||
| chr1:51483398 | AGTGT | A | 4 | a0001c0002t0003g0049 a0001c0002t0003g0085 a0002c0001t0010g0039 others(1): Show |
4 | HG01109.hp2 HG02818.hp1 HG03041.hp2 others(1): Show |
intron_variant | MODIFIER | c.34-2088_34-2085del others(4): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51483398 | |||||||
| chr1:51483398 | AGTGTGT | A | 14 | a0001c0002t0002g0030 a0001c0002t0002g0031 a0002c0001t0007g0133 others(11): Show |
14 | HG00642.hp1 HG01346.hp1 HG01891.hp1 others(11): Show |
intron_variant | MODIFIER | c.34-2090_34-2085del others(6): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51483398 | |||||||
| chr1:51483398 | AGTGTGTG others(1): Show |
A | 5 | a0001c0002t0017g0033 a0002c0001t0007g0134 a0002c0001t0007g0135 others(2): Show |
5 | HG01257.hp2 HG02717.hp1 HG02976.hp1 others(2): Show |
intron_variant | MODIFIER | c.34-2092_34-2085del others(8): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51483398 | |||||||
| chr1:51483398 | AGTGTGTG others(3): Show |
A | 6 | a0002c0004t0002g0011 a0002c0004t0002g0012 a0002c0004t0002g0014 others(3): Show |
6 | HG01167.hp2 HG02486.hp2 HG02922.hp1 others(3): Show |
intron_variant | MODIFIER | c.34-2094_34-2085del others(10): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51483398 | |||||||
| chr1:51483398 | AGTGTGTG others(5): Show |
A | 7 | a0002c0001t0004g0042 a0002c0001t0004g0043 a0002c0001t0004g0044 others(4): Show |
7 | HG00738.hp1 HG01516.hp1 HG01517.hp1 others(4): Show |
intron_variant | MODIFIER | c.34-2096_34-2085del others(12): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51483398 | |||||||
| chr1:51483416 | T | TGA | 16 | a0002c0001t0005g0139 a0002c0001t0005g0140 a0002c0001t0005g0142 others(13): Show |
16 | HG01109.hp1 HG01175.hp1 HG01884.hp2 others(13): Show |
intron_variant | MODIFIER | c.34-2103_34-2102ins others(2): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51483416 | |||||||
| chr1:51483518 | G | A | 9 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(6): Show |
9 | HG00642.hp1 HG01109.hp2 HG01257.hp2 others(6): Show |
intron_variant | MODIFIER | c.34-2204C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51483518 | |||||||
| chr1:51483537 | G | T | 14 | a0002c0004t0002g0004 a0002c0004t0002g0005 a0002c0004t0002g0006 others(11): Show |
14 | HG01167.hp2 HG01346.hp1 HG01891.hp1 others(11): Show |
intron_variant | MODIFIER | c.34-2223C>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51483537 | |||||||
| chr1:51483567 | G | A | 4 | a0002c0001t0008g0120 a0002c0001t0008g0121 a0002c0001t0008g0122 others(1): Show |
4 | HG00738.hp1 HG01516.hp1 HG01517.hp1 others(1): Show |
intron_variant | MODIFIER | c.34-2253C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51483567 | |||||||
| chr1:51483578 | T | C | 13 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(10): Show |
13 | HG00642.hp1 HG00738.hp1 HG01109.hp2 others(10): Show |
intron_variant | MODIFIER | c.34-2264A>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51483578 | |||||||
| chr1:51483587 | C | A | 16 | a0002c0001t0005g0139 a0002c0001t0005g0140 a0002c0001t0005g0142 others(13): Show |
16 | HG01109.hp1 HG01175.hp1 HG01884.hp2 others(13): Show |
intron_variant | MODIFIER | c.34-2273G>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51483587 | |||||||
| chr1:51483635 | G | A | 9 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(6): Show |
9 | HG00642.hp1 HG01109.hp2 HG01257.hp2 others(6): Show |
intron_variant | MODIFIER | c.34-2321C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51483635 | |||||||
| chr1:51483829 | G | A | 4 | a0002c0001t0008g0120 a0002c0001t0008g0121 a0002c0001t0008g0122 others(1): Show |
4 | HG00738.hp1 HG01516.hp1 HG01517.hp1 others(1): Show |
intron_variant | MODIFIER | c.34-2515C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51483829 | |||||||
| chr1:51483878 | T | C | 9 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(6): Show |
9 | HG00642.hp1 HG01109.hp2 HG01257.hp2 others(6): Show |
intron_variant | MODIFIER | c.34-2564A>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51483878 | |||||||
| chr1:51483917 | C | A | 3 | a0002c0001t0012g0001 a0002c0001t0012g0002 a0002c0001t0012g0003 |
3 | HG02257.hp1 HG03139.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.34-2603G>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51483917 | |||||||
| chr1:51484108 | C | T | 1 | a0001c0002t0001g0103 | 1 | HG03491.hp2 | intron_variant | MODIFIER | c.34-2794G>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51484108 | |||||||
| chr1:51484160 | G | A | 9 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(6): Show |
9 | HG00642.hp1 HG01109.hp2 HG01257.hp2 others(6): Show |
intron_variant | MODIFIER | c.34-2846C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51484160 | |||||||
| chr1:51484233 | T | C | 2 | a0002c0001t0006g0027 a0002c0001t0006g0029 |
2 | HG02572.hp1 NA18522.hp2 |
intron_variant | MODIFIER | c.34-2919A>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51484233 | |||||||
| chr1:51484293 | C | A | 2 | a0002c0001t0004g0022 a0002c0001t0004g0023 |
2 | HG01515.hp2 HG01517.hp2 |
intron_variant | MODIFIER | c.34-2979G>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51484293 | |||||||
| chr1:51484398 | T | C | 9 | a0002c0001t0006g0027 a0002c0001t0006g0029 a0002c0001t0006g0034 others(6): Show |
9 | HG02257.hp1 HG02572.hp1 HG03041.hp1 others(6): Show |
intron_variant | MODIFIER | c.34-3084A>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51484398 | |||||||
| chr1:51484444 | T | A | 2 | a0002c0001t0004g0042 a0002c0001t0004g0043 |
2 | HG02630.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.34-3130A>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51484444 | |||||||
| chr1:51484478 | C | T | 14 | a0002c0004t0002g0004 a0002c0004t0002g0005 a0002c0004t0002g0006 others(11): Show |
14 | HG01167.hp2 HG01346.hp1 HG01891.hp1 others(11): Show |
intron_variant | MODIFIER | c.34-3164G>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51484478 | |||||||
| chr1:51484579 | G | A | 9 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(6): Show |
9 | HG00642.hp1 HG01109.hp2 HG01257.hp2 others(6): Show |
intron_variant | MODIFIER | c.34-3265C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51484579 | |||||||
| chr1:51484669 | T | C | 1 | a0001c0002t0001g0060 | 1 | HG00438.hp2 | intron_variant | MODIFIER | c.34-3355A>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51484669 | |||||||
| chr1:51484850 | T | C | 76 | a0001c0002t0002g0030 a0001c0002t0002g0031 a0001c0002t0017g0033 others(73): Show |
76 | HG00642.hp1 HG00733.hp2 HG00735.hp1 others(73): Show |
intron_variant | MODIFIER | c.34-3536A>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51484850 | |||||||
| chr1:51484949 | T | A | 3 | a0002c0001t0009g0117 a0002c0001t0009g0118 a0002c0001t0009g0119 |
3 | HG00735.hp2 HG03491.hp1 HG03492.hp2 |
intron_variant | MODIFIER | c.34-3635A>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51484949 | |||||||
| chr1:51484958 | GTTTA | G | 4 | a0001c0003t0001g0071 a0002c0001t0009g0117 a0002c0001t0009g0118 others(1): Show |
4 | HG00735.hp2 HG02735.hp1 HG03491.hp1 others(1): Show |
intron_variant | MODIFIER | c.34-3648_34-3645del others(4): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51484958 | |||||||
| chr1:51484986 | T | G | 2 | a0002c0001t0004g0042 a0002c0001t0004g0043 |
2 | HG02630.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.34-3672A>C | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51484986 | |||||||
| chr1:51485031 | C | A | 9 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(6): Show |
9 | HG00642.hp1 HG01109.hp2 HG01257.hp2 others(6): Show |
intron_variant | MODIFIER | c.34-3717G>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51485031 | |||||||
| chr1:51485295 | C | T | 3 | a0001c0002t0001g0075 a0001c0002t0001g0126 a0001c0002t0001g0127 |
3 | HG00438.hp1 NA18747.hp1 NA19011.hp1 |
intron_variant | MODIFIER | c.34-3981G>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51485295 | |||||||
| chr1:51485304 | G | A | 2 | a0002c0001t0009g0116 a0002c0001t0022g0115 |
2 | HG06807.hp1 NA19030.hp2 |
intron_variant | MODIFIER | c.34-3990C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51485304 | |||||||
| chr1:51485455 | T | A | 9 | a0002c0001t0006g0027 a0002c0001t0006g0029 a0002c0001t0006g0034 others(6): Show |
9 | HG02257.hp1 HG02572.hp1 HG03041.hp1 others(6): Show |
intron_variant | MODIFIER | c.34-4141A>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51485455 | |||||||
| chr1:51485833 | T | C | 1 | a0001c0003t0001g0106 | 1 | HG03834.hp2 | intron_variant | MODIFIER | c.34-4519A>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51485833 | |||||||
| chr1:51486246 | C | T | 8 | a0002c0001t0004g0018 a0002c0001t0004g0019 a0002c0001t0004g0020 others(5): Show |
8 | HG00733.hp2 HG00735.hp1 HG01192.hp1 others(5): Show |
intron_variant | MODIFIER | c.34-4932G>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51486246 | |||||||
| chr1:51486263 | C | CA | 5 | a0001c0002t0001g0056 a0002c0001t0004g0019 a0002c0001t0004g0020 others(2): Show |
5 | HG00733.hp2 HG04199.hp2 HG06807.hp1 others(2): Show |
intron_variant | MODIFIER | c.34-4950dupT | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51486263 | |||||||
| chr1:51486413 | G | A | 5 | a0002c0001t0011g0130 a0002c0001t0011g0131 a0002c0001t0011g0132 others(2): Show |
5 | HG01109.hp2 HG02559.hp2 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.34-5099C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51486413 | |||||||
| chr1:51486425 | CA | C | 10 | a0001c0002t0001g0052 a0001c0002t0003g0074 a0001c0002t0003g0078 others(7): Show |
10 | HG00735.hp2 HG01192.hp2 HG02055.hp1 others(7): Show |
intron_variant | MODIFIER | c.34-5112delT | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51486425 | |||||||
| chr1:51486425 | CAA | C | 111 | a0001c0002t0001g0026 a0001c0002t0001g0045 a0001c0002t0001g0046 others(108): Show |
111 | HG00438.hp1 HG00438.hp2 HG00558.hp1 others(108): Show |
intron_variant | MODIFIER | c.34-5113_34-5112del others(2): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51486425 | |||||||
| chr1:51486425 | CAAA | C | 27 | a0001c0003t0001g0093 a0002c0001t0005g0139 a0002c0001t0005g0140 others(24): Show |
27 | HG00642.hp1 HG01109.hp1 HG01109.hp2 others(24): Show |
intron_variant | MODIFIER | c.34-5114_34-5112del others(3): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51486425 | |||||||
| chr1:51486799 | C | T | 1 | a0001c0002t0001g0082 | 1 | HG01261.hp2 | intron_variant | MODIFIER | c.34-5485G>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51486799 | |||||||
| chr1:51486825 | T | TTG | 13 | a0001c0002t0001g0096 a0001c0002t0001g0098 a0001c0002t0001g0114 others(10): Show |
13 | HG00642.hp1 HG01109.hp2 HG01257.hp2 others(10): Show |
intron_variant | MODIFIER | c.34-5513_34-5512dup others(2): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51486825 | |||||||
| chr1:51486959 | T | A | 1 | a0001c0003t0001g0068 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.34-5645A>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51486959 | |||||||
| chr1:51487111 | T | C | 4 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(1): Show |
4 | HG00642.hp1 HG01257.hp2 HG03130.hp1 others(1): Show |
intron_variant | MODIFIER | c.34-5797A>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51487111 | |||||||
| chr1:51487118 | T | A | 9 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(6): Show |
9 | HG00642.hp1 HG01109.hp2 HG01257.hp2 others(6): Show |
intron_variant | MODIFIER | c.34-5804A>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51487118 | |||||||
| chr1:51487177 | A | T | 4 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(1): Show |
4 | HG00642.hp1 HG01257.hp2 HG03130.hp1 others(1): Show |
intron_variant | MODIFIER | c.34-5863T>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51487177 | |||||||
| chr1:51487246 | G | C | 9 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(6): Show |
9 | HG00642.hp1 HG01109.hp2 HG01257.hp2 others(6): Show |
intron_variant | MODIFIER | c.34-5932C>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51487246 | |||||||
| chr1:51487458 | T | A | 4 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(1): Show |
4 | HG00642.hp1 HG01257.hp2 HG03130.hp1 others(1): Show |
intron_variant | MODIFIER | c.34-6144A>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51487458 | |||||||
| chr1:51487634 | A | G | 1 | a0006c0013t0001g0099 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.34-6320T>C | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51487634 | |||||||
| chr1:51487776 | C | T | 1 | a0002c0004t0002g0005 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.34-6462G>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51487776 | |||||||
| chr1:51487896 | T | C | 2 | a0002c0001t0009g0116 a0002c0001t0022g0115 |
2 | HG06807.hp1 NA19030.hp2 |
intron_variant | MODIFIER | c.34-6582A>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51487896 | |||||||
| chr1:51488255 | T | TGTCAAA | 8 | a0002c0001t0004g0018 a0002c0001t0004g0019 a0002c0001t0004g0020 others(5): Show |
8 | HG00733.hp2 HG00735.hp1 HG01192.hp1 others(5): Show |
intron_variant | MODIFIER | c.34-6947_34-6942dup others(6): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51488255 | |||||||
| chr1:51488258 | C | T | 9 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(6): Show |
9 | HG00642.hp1 HG01109.hp2 HG01257.hp2 others(6): Show |
intron_variant | MODIFIER | c.34-6944G>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51488258 | |||||||
| chr1:51488463 | A | G | 2 | a0002c0001t0009g0116 a0002c0001t0022g0115 |
2 | HG06807.hp1 NA19030.hp2 |
intron_variant | MODIFIER | c.34-7149T>C | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51488463 | |||||||
| chr1:51488472 | T | TA | 34 | a0001c0002t0001g0051 a0001c0002t0001g0056 a0001c0002t0001g0103 others(31): Show |
34 | HG00738.hp2 HG00741.hp1 HG00741.hp2 others(31): Show |
intron_variant | MODIFIER | c.34-7159dupT | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51488472 | |||||||
| chr1:51488472 | T | TAAAA | 8 | a0002c0001t0004g0018 a0002c0001t0004g0019 a0002c0001t0004g0020 others(5): Show |
8 | HG00733.hp2 HG00735.hp1 HG01515.hp2 others(5): Show |
intron_variant | MODIFIER | c.34-7162_34-7159dup others(4): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51488472 | |||||||
| chr1:51488472 | T | TAAAAAAA others(6): Show |
1 | a0002c0001t0007g0135 | 1 | HG01257.hp2 | intron_variant | MODIFIER | c.34-7171_34-7159dup others(13): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51488472 | |||||||
| chr1:51488472 | T | TAAAAAAA others(7): Show |
2 | a0002c0001t0007g0133 a0002c0001t0007g0134 |
2 | HG00642.hp1 NA20129.hp2 |
intron_variant | MODIFIER | c.34-7172_34-7159dup others(14): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51488472 | |||||||
| chr1:51488472 | T | TAAAAAAA others(6): Show |
5 | a0002c0001t0011g0130 a0002c0001t0011g0131 a0002c0001t0011g0132 others(2): Show |
5 | HG01109.hp2 HG02559.hp2 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.34-7159_34-7158ins others(13): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51488472 | |||||||
| chr1:51488472 | TA | T | 5 | a0001c0003t0001g0063 a0001c0003t0001g0093 a0001c0003t0001g0095 others(2): Show |
5 | HG01167.hp1 HG01952.hp2 HG03491.hp1 others(2): Show |
intron_variant | MODIFIER | c.34-7159delT | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51488472 | |||||||
| chr1:51488485 | A | C | 5 | a0002c0001t0011g0130 a0002c0001t0011g0131 a0002c0001t0011g0132 others(2): Show |
5 | HG01109.hp2 HG02559.hp2 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.34-7171T>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51488485 | |||||||
| chr1:51488577 | C | T | 2 | a0002c0001t0014g0036 a0002c0001t0014g0037 |
2 | HG02451.hp2 HG02976.hp2 |
intron_variant | MODIFIER | c.34-7263G>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51488577 | |||||||
| chr1:51488737 | TCTC | T | 4 | a0001c0002t0002g0030 a0001c0002t0002g0031 a0001c0002t0017g0033 others(1): Show |
4 | HG02630.hp2 HG02717.hp1 HG02976.hp1 others(1): Show |
intron_variant | MODIFIER | c.34-7426_34-7424del others(3): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51488737 | |||||||
| chr1:51488782 | A | G | 1 | a0001c0002t0013g0102 | 1 | HG01952.hp1 | intron_variant | MODIFIER | c.34-7468T>C | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51488782 | |||||||
| chr1:51488869 | G | A | 14 | a0002c0004t0002g0004 a0002c0004t0002g0005 a0002c0004t0002g0006 others(11): Show |
14 | HG01167.hp2 HG01346.hp1 HG01891.hp1 others(11): Show |
intron_variant | MODIFIER | c.34-7555C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51488869 | |||||||
| chr1:51488992 | G | A | 9 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(6): Show |
9 | HG00642.hp1 HG01109.hp2 HG01257.hp2 others(6): Show |
intron_variant | MODIFIER | c.34-7678C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51488992 | |||||||
| chr1:51488997 | A | C | 1 | a0009c0009t0015g0125 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.34-7683T>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51488997 | |||||||
| chr1:51489014 | A | G | 2 | a0001c0003t0001g0059 a0001c0003t0003g0054 |
2 | HG01884.hp1 HG02145.hp2 |
intron_variant | MODIFIER | c.34-7700T>C | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51489014 | |||||||
| chr1:51489140 | T | TA | 8 | a0001c0002t0001g0056 a0002c0001t0006g0027 a0002c0001t0006g0029 others(5): Show |
8 | HG00738.hp1 HG01516.hp1 HG01517.hp1 others(5): Show |
intron_variant | MODIFIER | c.34-7827dupT | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51489140 | |||||||
| chr1:51489140 | T | TAAA | 9 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(6): Show |
9 | HG00642.hp1 HG01109.hp2 HG01257.hp2 others(6): Show |
intron_variant | MODIFIER | c.34-7829_34-7827dup others(3): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51489140 | |||||||
| chr1:51489280 | G | A | 5 | a0002c0001t0006g0027 a0002c0001t0006g0029 a0002c0001t0006g0034 others(2): Show |
5 | HG02572.hp1 HG03041.hp1 HG03098.hp1 others(2): Show |
intron_variant | MODIFIER | c.34-7966C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51489280 | |||||||
| chr1:51489286 | C | CAT | 9 | a0001c0002t0001g0097 a0001c0002t0017g0033 a0001c0002t0018g0083 others(6): Show |
9 | HG02257.hp1 HG02572.hp1 HG02717.hp1 others(6): Show |
intron_variant | MODIFIER | c.34-7974_34-7973dup others(2): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51489286 | |||||||
| chr1:51489286 | C | CATATATA others(1): Show |
4 | a0002c0001t0008g0120 a0002c0001t0008g0121 a0002c0001t0008g0122 others(1): Show |
4 | HG00738.hp1 HG01516.hp1 HG01517.hp1 others(1): Show |
intron_variant | MODIFIER | c.34-7980_34-7973dup others(8): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51489286 | |||||||
| chr1:51489286 | C | CATATATA others(5): Show |
5 | a0002c0001t0004g0044 a0002c0001t0010g0038 a0002c0001t0010g0039 others(2): Show |
5 | HG02109.hp2 HG02717.hp2 HG02818.hp1 others(2): Show |
intron_variant | MODIFIER | c.34-7984_34-7973dup others(12): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51489286 | |||||||
| chr1:51489286 | C | CATATATA others(13): Show |
1 | a0002c0001t0004g0043 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.34-7992_34-7973dup others(20): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51489286 | |||||||
| chr1:51489286 | CAT | C | 10 | a0002c0001t0004g0018 a0002c0001t0004g0019 a0002c0001t0004g0020 others(7): Show |
10 | HG00733.hp2 HG00735.hp1 HG00735.hp2 others(7): Show |
intron_variant | MODIFIER | c.34-7974_34-7973del others(2): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51489286 | |||||||
| chr1:51489299 | ATATATAT others(9): Show |
A | 9 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(6): Show |
9 | HG00642.hp1 HG01109.hp2 HG01257.hp2 others(6): Show |
intron_variant | MODIFIER | c.34-8001_34-7986del others(16): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51489299 | |||||||
| chr1:51489303 | A | ATATATAT others(19): Show |
1 | a0002c0001t0004g0042 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.34-7990_34-7989ins others(26): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51489303 | |||||||
| chr1:51489307 | G | A | 8 | a0001c0002t0001g0096 a0001c0002t0001g0097 a0001c0002t0001g0098 others(5): Show |
8 | HG01175.hp2 HG01257.hp1 HG03491.hp2 others(5): Show |
intron_variant | MODIFIER | c.34-7993C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51489307 | |||||||
| chr1:51489348 | G | A | 9 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(6): Show |
9 | HG00642.hp1 HG01109.hp2 HG01257.hp2 others(6): Show |
intron_variant | MODIFIER | c.34-8034C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51489348 | |||||||
| chr1:51489385 | G | A | 5 | a0002c0001t0011g0130 a0002c0001t0011g0131 a0002c0001t0011g0132 others(2): Show |
5 | HG01109.hp2 HG02559.hp2 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.34-8071C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51489385 | |||||||
| chr1:51489414 | C | T | 1 | a0008c0012t0007g0136 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.34-8100G>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51489414 | |||||||
| chr1:51489457 | G | A | 2 | a0001c0003t0001g0069 a0001c0003t0001g0071 |
2 | HG02735.hp1 HG04204.hp2 |
intron_variant | MODIFIER | c.34-8143C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51489457 | |||||||
| chr1:51489604 | C | T | 1 | a0001c0003t0001g0061 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.34-8290G>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51489604 | |||||||
| chr1:51490065 | A | C | 3 | a0001c0002t0003g0074 a0001c0002t0003g0078 a0001c0002t0003g0080 |
3 | HG02055.hp1 HG02451.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.34-8751T>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51490065 | |||||||
| chr1:51490155 | G | A | 9 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(6): Show |
9 | HG00642.hp1 HG01109.hp2 HG01257.hp2 others(6): Show |
intron_variant | MODIFIER | c.34-8841C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51490155 | |||||||
| chr1:51490186 | T | C | 1 | a0001c0003t0001g0111 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.34-8872A>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51490186 | |||||||
| chr1:51490330 | C | A | 1 | a0002c0001t0008g0122 | 1 | NA20805.hp2 | intron_variant | MODIFIER | c.34-9016G>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51490330 | |||||||
| chr1:51490347 | C | T | 15 | a0002c0001t0004g0018 a0002c0001t0004g0019 a0002c0001t0004g0020 others(12): Show |
15 | HG00733.hp2 HG00735.hp1 HG01192.hp1 others(12): Show |
intron_variant | MODIFIER | c.34-9033G>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51490347 | |||||||
| chr1:51490356 | G | C | 1 | a0002c0001t0008g0122 | 1 | NA20805.hp2 | intron_variant | MODIFIER | c.34-9042C>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51490356 | |||||||
| chr1:51490378 | T | A | 9 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(6): Show |
9 | HG00642.hp1 HG01109.hp2 HG01257.hp2 others(6): Show |
intron_variant | MODIFIER | c.34-9064A>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51490378 | |||||||
| chr1:51490393 | A | G | 9 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(6): Show |
9 | HG00642.hp1 HG01109.hp2 HG01257.hp2 others(6): Show |
intron_variant | MODIFIER | c.34-9079T>C | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51490393 | |||||||
| chr1:51490458 | G | A | 2 | a0002c0001t0004g0042 a0002c0001t0004g0043 |
2 | HG02630.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.34-9144C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51490458 | |||||||
| chr1:51490480 | G | A | 4 | a0002c0001t0010g0038 a0002c0001t0010g0039 a0002c0001t0010g0041 others(1): Show |
4 | HG02109.hp2 HG02717.hp2 HG02818.hp1 others(1): Show |
intron_variant | MODIFIER | c.34-9166C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51490480 | |||||||
| chr1:51490564 | C | CA | 11 | a0001c0002t0001g0048 a0001c0002t0001g0056 a0001c0002t0001g0100 others(8): Show |
11 | HG01175.hp2 HG02486.hp2 HG02818.hp2 others(8): Show |
intron_variant | MODIFIER | c.34-9251dupT | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51490564 | |||||||
| chr1:51490564 | CA | C | 18 | a0001c0002t0001g0051 a0001c0002t0001g0077 a0001c0002t0001g0079 others(15): Show |
18 | HG00558.hp1 HG00558.hp2 HG00639.hp1 others(15): Show |
intron_variant | MODIFIER | c.34-9251delT | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51490564 | |||||||
| chr1:51490564 | CAA | C | 44 | a0002c0001t0004g0018 a0002c0001t0004g0019 a0002c0001t0004g0020 others(41): Show |
44 | HG00733.hp2 HG00735.hp1 HG00738.hp1 others(41): Show |
intron_variant | MODIFIER | c.34-9252_34-9251del others(2): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51490564 | |||||||
| chr1:51490632 | A | C | 4 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(1): Show |
4 | HG00642.hp1 HG01257.hp2 HG03130.hp1 others(1): Show |
intron_variant | MODIFIER | c.34-9318T>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51490632 | |||||||
| chr1:51491116 | A | G | 1 | a0001c0002t0001g0045 | 1 | HG02572.hp2 | intron_variant | MODIFIER | c.34-9802T>C | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51491116 | |||||||
| chr1:51491464 | T | C | 9 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(6): Show |
9 | HG00642.hp1 HG01109.hp2 HG01257.hp2 others(6): Show |
intron_variant | MODIFIER | c.34-10150A>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51491464 | |||||||
| chr1:51491633 | G | C | 4 | a0002c0001t0012g0001 a0002c0001t0012g0002 a0002c0001t0012g0003 others(1): Show |
4 | HG02257.hp1 HG03139.hp2 HG03486.hp1 others(1): Show |
intron_variant | MODIFIER | c.34-10319C>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51491633 | |||||||
| chr1:51491648 | T | C | 9 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(6): Show |
9 | HG00642.hp1 HG01109.hp2 HG01257.hp2 others(6): Show |
intron_variant | MODIFIER | c.34-10334A>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51491648 | |||||||
| chr1:51491661 | A | T | 1 | a0002c0001t0005g0140 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.34-10347T>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51491661 | |||||||
| chr1:51491674 | AGAACAAC others(11): Show |
A | 1 | a0001c0002t0013g0102 | 1 | HG01952.hp1 | intron_variant | MODIFIER | c.34-10378_34-10361d others(20): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51491674 | |||||||
| chr1:51491851 | CTCATT | C | 3 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 |
3 | HG00642.hp1 HG01257.hp2 NA20129.hp2 |
intron_variant | MODIFIER | c.34-10542_34-10538d others(7): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51491851 | |||||||
| chr1:51491853 | C | A | 5 | a0002c0001t0011g0130 a0002c0001t0011g0131 a0002c0001t0011g0132 others(2): Show |
5 | HG01109.hp2 HG02559.hp2 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.34-10539G>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51491853 | |||||||
| chr1:51491854 | ATTTAATT | A | 5 | a0002c0001t0011g0130 a0002c0001t0011g0131 a0002c0001t0011g0132 others(2): Show |
5 | HG01109.hp2 HG02559.hp2 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.34-10547_34-10541d others(9): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51491854 | |||||||
| chr1:51491859 | A | AT | 15 | a0001c0002t0001g0045 a0001c0002t0001g0100 a0001c0002t0002g0030 others(12): Show |
15 | HG01175.hp2 HG02451.hp2 HG02486.hp2 others(12): Show |
intron_variant | MODIFIER | c.34-10546dupA | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51491859 | |||||||
| chr1:51491859 | A | ATTT | 11 | a0002c0001t0005g0139 a0002c0001t0005g0140 a0002c0001t0005g0146 others(8): Show |
11 | HG01175.hp1 HG01884.hp2 HG01891.hp2 others(8): Show |
intron_variant | MODIFIER | c.34-10548_34-10546d others(5): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51491859 | |||||||
| chr1:51491859 | AT | A | 5 | a0001c0003t0001g0059 a0001c0003t0001g0070 a0001c0003t0001g0095 others(2): Show |
5 | HG01167.hp1 HG01515.hp1 HG01884.hp1 others(2): Show |
intron_variant | MODIFIER | c.34-10546delA | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51491859 | |||||||
| chr1:51491860 | T | A | 1 | a0008c0012t0007g0136 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.34-10546A>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51491860 | |||||||
| chr1:51492110 | A | G | 5 | a0002c0001t0009g0116 a0002c0001t0009g0117 a0002c0001t0009g0118 others(2): Show |
5 | HG00735.hp2 HG03491.hp1 HG03492.hp2 others(2): Show |
intron_variant | MODIFIER | c.34-10796T>C | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51492110 | |||||||
| chr1:51492298 | C | T | 36 | a0002c0001t0006g0027 a0002c0001t0006g0029 a0002c0001t0006g0034 others(33): Show |
36 | HG00642.hp1 HG00738.hp1 HG01109.hp2 others(33): Show |
intron_variant | MODIFIER | c.34-10984G>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51492298 | |||||||
| chr1:51492715 | C | CA | 3 | a0002c0001t0012g0001 a0002c0001t0012g0002 a0002c0001t0012g0003 |
3 | HG02257.hp1 HG03139.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.34-11402dupT | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51492715 | |||||||
| chr1:51492719 | C | A | 10 | a0001c0002t0001g0026 a0001c0002t0001g0046 a0001c0002t0001g0047 others(7): Show |
10 | HG00639.hp2 HG02257.hp1 HG02647.hp1 others(7): Show |
intron_variant | MODIFIER | c.34-11405G>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51492719 | |||||||
| chr1:51492723 | A | C | 5 | a0002c0001t0009g0116 a0002c0001t0009g0117 a0002c0001t0009g0118 others(2): Show |
5 | HG00735.hp2 HG03491.hp1 HG03492.hp2 others(2): Show |
intron_variant | MODIFIER | c.34-11409T>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51492723 | |||||||
| chr1:51492808 | G | GC | 9 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(6): Show |
9 | HG00642.hp1 HG01109.hp2 HG01257.hp2 others(6): Show |
intron_variant | MODIFIER | c.34-11495dupG | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51492808 | |||||||
| chr1:51493028 | C | T | 3 | a0002c0001t0008g0120 a0002c0001t0008g0121 a0002c0001t0008g0123 |
3 | HG00738.hp1 HG01516.hp1 HG01517.hp1 |
intron_variant | MODIFIER | c.34-11714G>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51493028 | |||||||
| chr1:51493137 | G | A | 9 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(6): Show |
9 | HG00642.hp1 HG01109.hp2 HG01257.hp2 others(6): Show |
intron_variant | MODIFIER | c.34-11823C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51493137 | |||||||
| chr1:51493233 | C | T | 3 | a0002c0001t0006g0027 a0002c0001t0006g0029 a0002c0001t0016g0028 |
3 | HG02572.hp1 HG03041.hp1 NA18522.hp2 |
intron_variant | MODIFIER | c.34-11919G>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51493233 | |||||||
| chr1:51493242 | T | A | 1 | a0001c0002t0019g0055 | 1 | HG00558.hp2 | intron_variant | MODIFIER | c.34-11928A>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51493242 | |||||||
| chr1:51493318 | G | A | 1 | a0001c0002t0001g0110 | 1 | HG04115.hp2 | intron_variant | MODIFIER | c.34-12004C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51493318 | |||||||
| chr1:51493528 | T | TTAAA | 15 | a0001c0002t0001g0045 a0001c0002t0001g0046 a0001c0002t0001g0047 others(12): Show |
15 | HG00733.hp1 HG01167.hp1 HG01257.hp1 others(12): Show |
intron_variant | MODIFIER | c.34-12218_34-12215d others(6): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51493528 | |||||||
| chr1:51493528 | TTAAA | T | 57 | a0001c0002t0001g0052 a0001c0002t0001g0056 a0001c0002t0001g0060 others(54): Show |
57 | HG00438.hp2 HG00558.hp2 HG00639.hp1 others(54): Show |
intron_variant | MODIFIER | c.34-12218_34-12215d others(6): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51493528 | |||||||
| chr1:51493528 | TTAAATAA others(1): Show |
T | 7 | a0001c0002t0001g0077 a0001c0002t0001g0088 a0002c0001t0004g0042 others(4): Show |
7 | HG00558.hp1 HG01884.hp2 HG02630.hp1 others(4): Show |
intron_variant | MODIFIER | c.34-12222_34-12215d others(10): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51493528 | |||||||
| chr1:51493528 | TTAAATAA others(5): Show |
T | 4 | a0001c0002t0001g0113 a0002c0001t0005g0140 a0002c0001t0008g0122 others(1): Show |
4 | HG03209.hp1 NA18957.hp1 NA19043.hp2 others(1): Show |
intron_variant | MODIFIER | c.34-12226_34-12215d others(14): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51493528 | |||||||
| chr1:51493528 | TTAAATAA others(9): Show |
T | 1 | a0001c0002t0003g0078 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.34-12230_34-12215d others(18): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51493528 | |||||||
| chr1:51493528 | TTAAATAA others(21): Show |
T | 9 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(6): Show |
9 | HG00642.hp1 HG01109.hp2 HG01257.hp2 others(6): Show |
intron_variant | MODIFIER | c.34-12242_34-12215d others(30): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51493528 | |||||||
| chr1:51493704 | C | T | 3 | a0002c0001t0010g0038 a0002c0001t0010g0041 a0002c0007t0010g0040 |
3 | HG02109.hp2 HG02717.hp2 HG03209.hp2 |
intron_variant | MODIFIER | c.34-12390G>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51493704 | |||||||
| chr1:51493743 | C | T | 8 | a0002c0001t0004g0018 a0002c0001t0004g0019 a0002c0001t0004g0020 others(5): Show |
8 | HG00733.hp2 HG00735.hp1 HG01192.hp1 others(5): Show |
intron_variant | MODIFIER | c.34-12429G>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51493743 | |||||||
| chr1:51493804 | G | A | 9 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(6): Show |
9 | HG00642.hp1 HG01109.hp2 HG01257.hp2 others(6): Show |
intron_variant | MODIFIER | c.34-12490C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51493804 | |||||||
| chr1:51493900 | C | T | 16 | a0002c0001t0005g0139 a0002c0001t0005g0140 a0002c0001t0005g0142 others(13): Show |
16 | HG01109.hp1 HG01175.hp1 HG01884.hp2 others(13): Show |
intron_variant | MODIFIER | c.34-12586G>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51493900 | |||||||
| chr1:51494267 | C | T | 2 | a0002c0001t0009g0116 a0002c0001t0022g0115 |
2 | HG06807.hp1 NA19030.hp2 |
intron_variant | MODIFIER | c.34-12953G>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51494267 | |||||||
| chr1:51494336 | G | A | 2 | a0001c0002t0002g0030 a0001c0002t0002g0031 |
2 | HG02630.hp2 NA19240.hp1 |
intron_variant | MODIFIER | c.34-13022C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51494336 | |||||||
| chr1:51494382 | T | C | 72 | a0002c0001t0004g0018 a0002c0001t0004g0019 a0002c0001t0004g0020 others(69): Show |
72 | HG00642.hp1 HG00733.hp2 HG00735.hp1 others(69): Show |
intron_variant | MODIFIER | c.34-13068A>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51494382 | |||||||
| chr1:51494649 | T | C | 1 | a0001c0002t0001g0081 | 1 | HG03492.hp1 | intron_variant | MODIFIER | c.34-13335A>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51494649 | |||||||
| chr1:51495180 | T | C | 2 | a0001c0002t0001g0101 a0001c0002t0020g0050 |
2 | HG01168.hp2 HG02738.hp1 |
intron_variant | MODIFIER | c.34-13866A>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51495180 | |||||||
| chr1:51495315 | T | A | 3 | a0002c0001t0009g0117 a0002c0001t0009g0118 a0002c0001t0009g0119 |
3 | HG00735.hp2 HG03491.hp1 HG03492.hp2 |
intron_variant | MODIFIER | c.34-14001A>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51495315 | |||||||
| chr1:51495317 | A | G | 3 | a0002c0001t0009g0117 a0002c0001t0009g0118 a0002c0001t0009g0119 |
3 | HG00735.hp2 HG03491.hp1 HG03492.hp2 |
intron_variant | MODIFIER | c.34-14003T>C | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51495317 | |||||||
| chr1:51495340 | TA | T | 9 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(6): Show |
9 | HG00642.hp1 HG01109.hp2 HG01257.hp2 others(6): Show |
intron_variant | MODIFIER | c.34-14027delT | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51495340 | |||||||
| chr1:51495353 | A | AT | 9 | a0002c0001t0006g0027 a0002c0001t0006g0029 a0002c0001t0006g0034 others(6): Show |
9 | HG00738.hp1 HG01516.hp1 HG01517.hp1 others(6): Show |
intron_variant | MODIFIER | c.34-14040dupA | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51495353 | |||||||
| chr1:51495353 | A | T | 1 | a0003c0005t0001g0017 | 1 | NA20752.hp2 | intron_variant | MODIFIER | c.34-14039T>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51495353 | |||||||
| chr1:51495497 | T | C | 1 | a0001c0002t0003g0092 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.34-14183A>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51495497 | |||||||
| chr1:51495540 | A | C | 1 | a0001c0002t0017g0033 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.34-14226T>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51495540 | |||||||
| chr1:51495567 | T | C | 1 | a0001c0002t0017g0033 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.34-14253A>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51495567 | |||||||
| chr1:51495680 | T | C | 1 | a0002c0001t0009g0116 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.34-14366A>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51495680 | |||||||
| chr1:51495684 | C | CA | 5 | a0002c0001t0011g0130 a0002c0001t0011g0131 a0002c0001t0011g0132 others(2): Show |
5 | HG01109.hp2 HG02559.hp2 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.34-14371dupT | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51495684 | |||||||
| chr1:51495695 | C | A | 9 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(6): Show |
9 | HG00642.hp1 HG01109.hp2 HG01257.hp2 others(6): Show |
intron_variant | MODIFIER | c.34-14381G>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51495695 | |||||||
| chr1:51496161 | A | G | 3 | a0001c0002t0001g0077 a0001c0002t0001g0088 a0001c0002t0018g0083 |
3 | HG00558.hp1 NA18747.hp2 NA18957.hp2 |
intron_variant | MODIFIER | c.34-14847T>C | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51496161 | |||||||
| chr1:51496412 | A | G | 1 | a0002c0004t0002g0005 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.34-15098T>C | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51496412 | |||||||
| chr1:51496533 | T | C | 2 | a0001c0002t0001g0101 a0001c0002t0020g0050 |
2 | HG01168.hp2 HG02738.hp1 |
intron_variant | MODIFIER | c.34-15219A>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51496533 | |||||||
| chr1:51496610 | T | G | 1 | a0001c0002t0001g0103 | 1 | HG03491.hp2 | intron_variant | MODIFIER | c.34-15296A>C | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51496610 | |||||||
| chr1:51496791 | T | G | 7 | a0002c0001t0005g0144 a0002c0001t0005g0145 a0002c0001t0005g0146 others(4): Show |
7 | HG01109.hp1 HG01884.hp2 HG01891.hp2 others(4): Show |
intron_variant | MODIFIER | c.34-15477A>C | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51496791 | |||||||
| chr1:51496919 | G | A | 3 | a0002c0001t0006g0027 a0002c0001t0006g0029 a0002c0001t0016g0028 |
3 | HG02572.hp1 HG03041.hp1 NA18522.hp2 |
intron_variant | MODIFIER | c.34-15605C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51496919 | |||||||
| chr1:51496952 | G | T | 1 | a0002c0001t0004g0025 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.34-15638C>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51496952 | |||||||
| chr1:51497010 | A | T | 5 | a0002c0001t0011g0130 a0002c0001t0011g0131 a0002c0001t0011g0132 others(2): Show |
5 | HG01109.hp2 HG02559.hp2 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.34-15696T>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51497010 | |||||||
| chr1:51497151 | A | G | 4 | a0001c0002t0001g0026 a0001c0002t0001g0046 a0001c0002t0001g0047 others(1): Show |
4 | HG00639.hp2 HG02647.hp1 HG02818.hp2 others(1): Show |
intron_variant | MODIFIER | c.34-15837T>C | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51497151 | |||||||
| chr1:51497266 | T | C | 1 | a0001c0002t0001g0082 | 1 | HG01261.hp2 | intron_variant | MODIFIER | c.34-15952A>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51497266 | |||||||
| chr1:51497274 | CA | C | 5 | a0001c0003t0001g0053 a0001c0003t0001g0058 a0001c0003t0001g0059 others(2): Show |
5 | HG00642.hp2 HG01884.hp1 HG02145.hp2 others(2): Show |
intron_variant | MODIFIER | c.34-15961delT | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51497274 | |||||||
| chr1:51497602 | T | C | 4 | a0002c0001t0005g0139 a0002c0001t0005g0140 a0002c0001t0005g0148 others(1): Show |
4 | HG02257.hp2 HG02486.hp1 HG03209.hp1 others(1): Show |
intron_variant | MODIFIER | c.34-16288A>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51497602 | |||||||
| chr1:51497618 | G | A | 4 | a0001c0002t0001g0026 a0001c0002t0001g0046 a0001c0002t0001g0047 others(1): Show |
4 | HG00639.hp2 HG02647.hp1 HG02818.hp2 others(1): Show |
intron_variant | MODIFIER | c.34-16304C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51497618 | |||||||
| chr1:51497858 | T | C | 9 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(6): Show |
9 | HG00642.hp1 HG01109.hp2 HG01257.hp2 others(6): Show |
intron_variant | MODIFIER | c.34-16544A>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51497858 | |||||||
| chr1:51497866 | A | C | 1 | a0002c0001t0004g0025 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.34-16552T>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51497866 | |||||||
| chr1:51497954 | C | A | 5 | a0002c0001t0009g0116 a0002c0001t0009g0117 a0002c0001t0009g0118 others(2): Show |
5 | HG00735.hp2 HG03491.hp1 HG03492.hp2 others(2): Show |
intron_variant | MODIFIER | c.34-16640G>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51497954 | |||||||
| chr1:51497975 | C | CA | 6 | a0001c0002t0003g0087 a0001c0003t0001g0094 a0002c0001t0004g0042 others(3): Show |
6 | HG00733.hp1 HG02630.hp1 HG02647.hp2 others(3): Show |
intron_variant | MODIFIER | c.34-16662dupT | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51497975 | |||||||
| chr1:51498069 | A | T | 5 | a0002c0001t0009g0116 a0002c0001t0009g0117 a0002c0001t0009g0118 others(2): Show |
5 | HG00735.hp2 HG03491.hp1 HG03492.hp2 others(2): Show |
intron_variant | MODIFIER | c.34-16755T>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51498069 | |||||||
| chr1:51498091 | G | A | 76 | a0001c0002t0002g0030 a0001c0002t0002g0031 a0001c0002t0017g0033 others(73): Show |
76 | HG00642.hp1 HG00733.hp2 HG00735.hp1 others(73): Show |
intron_variant | MODIFIER | c.34-16777C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51498091 | |||||||
| chr1:51498431 | T | C | 5 | a0002c0001t0009g0116 a0002c0001t0009g0117 a0002c0001t0009g0118 others(2): Show |
5 | HG00735.hp2 HG03491.hp1 HG03492.hp2 others(2): Show |
intron_variant | MODIFIER | c.34-17117A>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51498431 | |||||||
| chr1:51498517 | C | CA | 3 | a0001c0003t0001g0063 a0001c0003t0001g0095 a0001c0003t0001g0106 |
3 | HG01167.hp1 HG01952.hp2 HG03834.hp2 |
intron_variant | MODIFIER | c.34-17204dupT | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51498517 | |||||||
| chr1:51498520 | T | C | 2 | a0002c0001t0014g0036 a0002c0001t0014g0037 |
2 | HG02451.hp2 HG02976.hp2 |
intron_variant | MODIFIER | c.34-17206A>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51498520 | |||||||
| chr1:51498811 | T | C | 3 | a0001c0003t0001g0063 a0001c0003t0001g0095 a0001c0003t0001g0106 |
3 | HG01167.hp1 HG01952.hp2 HG03834.hp2 |
intron_variant | MODIFIER | c.34-17497A>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51498811 | |||||||
| chr1:51499033 | C | T | 15 | a0002c0001t0004g0018 a0002c0001t0004g0019 a0002c0001t0004g0020 others(12): Show |
15 | HG00733.hp2 HG00735.hp1 HG01192.hp1 others(12): Show |
intron_variant | MODIFIER | c.34-17719G>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51499033 | |||||||
| chr1:51499772 | C | G | 1 | a0002c0004t0002g0004 | 1 | HG01346.hp1 | intron_variant | MODIFIER | c.34-18458G>C | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51499772 | |||||||
| chr1:51499828 | A | G | 4 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(1): Show |
4 | HG00642.hp1 HG01257.hp2 HG03130.hp1 others(1): Show |
intron_variant | MODIFIER | c.34-18514T>C | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51499828 | |||||||
| chr1:51500016 | T | G | 36 | a0002c0001t0006g0027 a0002c0001t0006g0029 a0002c0001t0006g0034 others(33): Show |
36 | HG00642.hp1 HG00738.hp1 HG01109.hp2 others(33): Show |
intron_variant | MODIFIER | c.34-18702A>C | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51500016 | |||||||
| chr1:51500198 | A | T | 9 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(6): Show |
9 | HG00642.hp1 HG01109.hp2 HG01257.hp2 others(6): Show |
intron_variant | MODIFIER | c.34-18884T>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51500198 | |||||||
| chr1:51500437 | G | A | 5 | a0002c0001t0011g0130 a0002c0001t0011g0131 a0002c0001t0011g0132 others(2): Show |
5 | HG01109.hp2 HG02559.hp2 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.33+18762C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51500437 | |||||||
| chr1:51500464 | G | GT | 4 | a0002c0001t0008g0120 a0002c0001t0008g0121 a0002c0001t0008g0122 others(1): Show |
4 | HG00738.hp1 HG01516.hp1 HG01517.hp1 others(1): Show |
intron_variant | MODIFIER | c.33+18734dupA | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51500464 | |||||||
| chr1:51500686 | T | TTAAAAGA others(3): Show |
1 | a0001c0002t0001g0114 | 1 | HG04204.hp1 | intron_variant | MODIFIER | c.33+18503_33+18512d others(12): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51500686 | |||||||
| chr1:51500711 | G | A | 14 | a0002c0001t0005g0139 a0002c0001t0005g0140 a0002c0001t0005g0142 others(11): Show |
14 | HG01109.hp1 HG01175.hp1 HG01884.hp2 others(11): Show |
intron_variant | MODIFIER | c.33+18488C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51500711 | |||||||
| chr1:51500741 | T | C | 2 | a0002c0001t0004g0042 a0002c0001t0004g0043 |
2 | HG02630.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.33+18458A>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51500741 | |||||||
| chr1:51500752 | A | G | 3 | a0002c0001t0012g0001 a0002c0001t0012g0002 a0002c0001t0012g0003 |
3 | HG02257.hp1 HG03139.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.33+18447T>C | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51500752 | |||||||
| chr1:51500939 | G | A | 9 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(6): Show |
9 | HG00642.hp1 HG01109.hp2 HG01257.hp2 others(6): Show |
intron_variant | MODIFIER | c.33+18260C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51500939 | |||||||
| chr1:51500983 | T | G | 7 | a0002c0001t0004g0042 a0002c0001t0004g0043 a0002c0001t0004g0044 others(4): Show |
7 | HG02109.hp2 HG02630.hp1 HG02717.hp2 others(4): Show |
intron_variant | MODIFIER | c.33+18216A>C | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51500983 | |||||||
| chr1:51500984 | CAAAAAAA others(7): Show |
C | 9 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(6): Show |
9 | HG00642.hp1 HG01109.hp2 HG01257.hp2 others(6): Show |
intron_variant | MODIFIER | c.33+18201_33+18214d others(16): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51500984 | |||||||
| chr1:51500997 | T | G | 2 | a0001c0002t0002g0030 a0001c0002t0002g0031 |
2 | HG02630.hp2 NA19240.hp1 |
intron_variant | MODIFIER | c.33+18202A>C | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51500997 | |||||||
| chr1:51501271 | G | A | 9 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(6): Show |
9 | HG00642.hp1 HG01109.hp2 HG01257.hp2 others(6): Show |
intron_variant | MODIFIER | c.33+17928C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51501271 | |||||||
| chr1:51501333 | G | A | 5 | a0002c0001t0006g0027 a0002c0001t0006g0029 a0002c0001t0006g0034 others(2): Show |
5 | HG02572.hp1 HG03041.hp1 HG03098.hp1 others(2): Show |
intron_variant | MODIFIER | c.33+17866C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51501333 | |||||||
| chr1:51501345 | T | C | 1 | a0009c0009t0015g0125 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.33+17854A>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51501345 | |||||||
| chr1:51501465 | G | T | 9 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(6): Show |
9 | HG00642.hp1 HG01109.hp2 HG01257.hp2 others(6): Show |
intron_variant | MODIFIER | c.33+17734C>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51501465 | |||||||
| chr1:51501567 | C | G | 2 | a0002c0001t0012g0001 a0002c0001t0012g0003 |
2 | HG02257.hp1 HG03139.hp2 |
intron_variant | MODIFIER | c.33+17632G>C | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51501567 | |||||||
| chr1:51501627 | T | C | 9 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(6): Show |
9 | HG00642.hp1 HG01109.hp2 HG01257.hp2 others(6): Show |
intron_variant | MODIFIER | c.33+17572A>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51501627 | |||||||
| chr1:51501631 | A | G | 1 | a0001c0002t0001g0048 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.33+17568T>C | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51501631 | |||||||
| chr1:51501636 | G | A | 2 | a0002c0001t0004g0042 a0002c0001t0004g0043 |
2 | HG02630.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.33+17563C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51501636 | |||||||
| chr1:51501730 | C | T | 1 | a0007c0008t0002g0032 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.33+17469G>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51501730 | |||||||
| chr1:51501764 | C | T | 1 | a0008c0012t0007g0136 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.33+17435G>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51501764 | |||||||
| chr1:51502084 | AT | A | 4 | a0002c0001t0008g0120 a0002c0001t0008g0121 a0002c0001t0008g0122 others(1): Show |
4 | HG00738.hp1 HG01516.hp1 HG01517.hp1 others(1): Show |
intron_variant | MODIFIER | c.33+17114delA | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51502084 | |||||||
| chr1:51502134 | G | A | 1 | a0005c0011t0025g0138 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.33+17065C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51502134 | |||||||
| chr1:51502187 | C | T | 1 | a0001c0002t0020g0050 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.33+17012G>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51502187 | |||||||
| chr1:51502227 | T | C | 3 | a0002c0001t0009g0117 a0002c0001t0009g0118 a0002c0001t0009g0119 |
3 | HG00735.hp2 HG03491.hp1 HG03492.hp2 |
intron_variant | MODIFIER | c.33+16972A>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51502227 | |||||||
| chr1:51502300 | T | A | 4 | a0002c0001t0010g0038 a0002c0001t0010g0039 a0002c0001t0010g0041 others(1): Show |
4 | HG02109.hp2 HG02717.hp2 HG02818.hp1 others(1): Show |
intron_variant | MODIFIER | c.33+16899A>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51502300 | |||||||
| chr1:51502342 | T | A | 9 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(6): Show |
9 | HG00642.hp1 HG01109.hp2 HG01257.hp2 others(6): Show |
intron_variant | MODIFIER | c.33+16857A>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51502342 | |||||||
| chr1:51502455 | G | A | 1 | a0001c0002t0001g0100 | 1 | HG01175.hp2 | intron_variant | MODIFIER | c.33+16744C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51502455 | |||||||
| chr1:51502686 | C | T | 5 | a0002c0001t0011g0130 a0002c0001t0011g0131 a0002c0001t0011g0132 others(2): Show |
5 | HG01109.hp2 HG02559.hp2 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.33+16513G>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51502686 | |||||||
| chr1:51502727 | G | T | 16 | a0002c0001t0005g0139 a0002c0001t0005g0140 a0002c0001t0005g0142 others(13): Show |
16 | HG01109.hp1 HG01175.hp1 HG01884.hp2 others(13): Show |
intron_variant | MODIFIER | c.33+16472C>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51502727 | |||||||
| chr1:51503006 | C | CA | 7 | a0002c0001t0004g0043 a0002c0001t0006g0027 a0002c0001t0006g0029 others(4): Show |
7 | HG02572.hp1 HG02630.hp1 HG03041.hp1 others(4): Show |
intron_variant | MODIFIER | c.33+16192dupT | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51503006 | |||||||
| chr1:51503006 | C | CAAAAAAA others(5): Show |
1 | a0008c0012t0007g0136 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.33+16181_33+16192d others(14): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51503006 | |||||||
| chr1:51503006 | C | CAAAAAAA others(6): Show |
7 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(4): Show |
7 | HG00642.hp1 HG01109.hp2 HG01257.hp2 others(4): Show |
intron_variant | MODIFIER | c.33+16180_33+16192d others(15): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51503006 | |||||||
| chr1:51503006 | C | CAAAAAAA others(8): Show |
1 | a0002c0001t0011g0130 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.33+16178_33+16192d others(17): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51503006 | |||||||
| chr1:51503037 | A | G | 14 | a0002c0004t0002g0004 a0002c0004t0002g0005 a0002c0004t0002g0006 others(11): Show |
14 | HG01167.hp2 HG01346.hp1 HG01891.hp1 others(11): Show |
intron_variant | MODIFIER | c.33+16162T>C | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51503037 | |||||||
| chr1:51503174 | C | T | 16 | a0002c0001t0005g0139 a0002c0001t0005g0140 a0002c0001t0005g0142 others(13): Show |
16 | HG01109.hp1 HG01175.hp1 HG01884.hp2 others(13): Show |
intron_variant | MODIFIER | c.33+16025G>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51503174 | |||||||
| chr1:51503263 | T | A | 1 | a0007c0008t0002g0032 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.33+15936A>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51503263 | |||||||
| chr1:51503337 | A | G | 7 | a0002c0001t0004g0042 a0002c0001t0004g0043 a0002c0001t0004g0044 others(4): Show |
7 | HG02109.hp2 HG02630.hp1 HG02717.hp2 others(4): Show |
intron_variant | MODIFIER | c.33+15862T>C | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51503337 | |||||||
| chr1:51503664 | A | C | 9 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(6): Show |
9 | HG00642.hp1 HG01109.hp2 HG01257.hp2 others(6): Show |
intron_variant | MODIFIER | c.33+15535T>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51503664 | |||||||
| chr1:51503721 | G | T | 9 | a0002c0001t0006g0027 a0002c0001t0006g0029 a0002c0001t0006g0034 others(6): Show |
9 | HG02257.hp1 HG02572.hp1 HG03041.hp1 others(6): Show |
intron_variant | MODIFIER | c.33+15478C>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51503721 | |||||||
| chr1:51503745 | T | C | 4 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(1): Show |
4 | HG00642.hp1 HG01257.hp2 HG03130.hp1 others(1): Show |
intron_variant | MODIFIER | c.33+15454A>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51503745 | |||||||
| chr1:51503812 | A | G | 4 | a0002c0001t0008g0120 a0002c0001t0008g0121 a0002c0001t0008g0122 others(1): Show |
4 | HG00738.hp1 HG01516.hp1 HG01517.hp1 others(1): Show |
intron_variant | MODIFIER | c.33+15387T>C | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51503812 | |||||||
| chr1:51504111 | A | G | 1 | a0002c0001t0023g0150 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.33+15088T>C | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51504111 | |||||||
| chr1:51504152 | C | T | 23 | a0002c0001t0006g0027 a0002c0001t0006g0029 a0002c0001t0006g0034 others(20): Show |
23 | HG01167.hp2 HG01346.hp1 HG01891.hp1 others(20): Show |
intron_variant | MODIFIER | c.33+15047G>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51504152 | |||||||
| chr1:51504184 | G | A | 16 | a0002c0001t0005g0139 a0002c0001t0005g0140 a0002c0001t0005g0142 others(13): Show |
16 | HG01109.hp1 HG01175.hp1 HG01884.hp2 others(13): Show |
intron_variant | MODIFIER | c.33+15015C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51504184 | |||||||
| chr1:51504342 | C | T | 1 | a0001c0002t0002g0030 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.33+14857G>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51504342 | |||||||
| chr1:51504430 | T | C | 9 | a0002c0001t0006g0027 a0002c0001t0006g0029 a0002c0001t0006g0034 others(6): Show |
9 | HG02257.hp1 HG02572.hp1 HG03041.hp1 others(6): Show |
intron_variant | MODIFIER | c.33+14769A>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51504430 | |||||||
| chr1:51504532 | C | CTAGAA | 5 | a0002c0001t0004g0044 a0002c0001t0010g0038 a0002c0001t0010g0039 others(2): Show |
5 | HG02109.hp2 HG02717.hp2 HG02818.hp1 others(2): Show |
intron_variant | MODIFIER | c.33+14662_33+14666d others(7): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51504532 | |||||||
| chr1:51504598 | GAATAT | G | 5 | a0002c0001t0006g0027 a0002c0001t0006g0029 a0002c0001t0006g0034 others(2): Show |
5 | HG02572.hp1 HG03041.hp1 HG03098.hp1 others(2): Show |
intron_variant | MODIFIER | c.33+14596_33+14600d others(7): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51504598 | |||||||
| chr1:51504657 | G | A | 2 | a0002c0001t0023g0150 a0002c0001t0024g0141 |
2 | HG01175.hp1 HG02258.hp2 |
intron_variant | MODIFIER | c.33+14542C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51504657 | |||||||
| chr1:51504778 | C | A | 9 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(6): Show |
9 | HG00642.hp1 HG01109.hp2 HG01257.hp2 others(6): Show |
intron_variant | MODIFIER | c.33+14421G>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51504778 | |||||||
| chr1:51504786 | C | T | 14 | a0002c0001t0005g0139 a0002c0001t0005g0140 a0002c0001t0005g0142 others(11): Show |
14 | HG01109.hp1 HG01175.hp1 HG01884.hp2 others(11): Show |
intron_variant | MODIFIER | c.33+14413G>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51504786 | |||||||
| chr1:51504787 | G | A | 1 | a0002c0001t0004g0044 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.33+14412C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51504787 | |||||||
| chr1:51504839 | A | C | 9 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(6): Show |
9 | HG00642.hp1 HG01109.hp2 HG01257.hp2 others(6): Show |
intron_variant | MODIFIER | c.33+14360T>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51504839 | |||||||
| chr1:51504891 | C | T | 1 | a0006c0013t0001g0099 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.33+14308G>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51504891 | |||||||
| chr1:51504977 | C | T | 8 | a0002c0001t0004g0018 a0002c0001t0004g0019 a0002c0001t0004g0020 others(5): Show |
8 | HG00733.hp2 HG00735.hp1 HG01192.hp1 others(5): Show |
intron_variant | MODIFIER | c.33+14222G>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51504977 | |||||||
| chr1:51505036 | G | A | 1 | a0001c0003t0001g0095 | 1 | HG01167.hp1 | intron_variant | MODIFIER | c.33+14163C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51505036 | |||||||
| chr1:51505077 | G | A | 1 | a0001c0002t0017g0033 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.33+14122C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51505077 | |||||||
| chr1:51505099 | G | T | 1 | a0002c0001t0006g0034 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.33+14100C>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51505099 | |||||||
| chr1:51505119 | CA | C | 9 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(6): Show |
9 | HG00642.hp1 HG01109.hp2 HG01257.hp2 others(6): Show |
intron_variant | MODIFIER | c.33+14079delT | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51505119 | |||||||
| chr1:51505188 | CAGG | C | 9 | a0002c0001t0006g0027 a0002c0001t0006g0029 a0002c0001t0006g0034 others(6): Show |
9 | HG02257.hp1 HG02572.hp1 HG03041.hp1 others(6): Show |
intron_variant | MODIFIER | c.33+14008_33+14010d others(5): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51505188 | |||||||
| chr1:51505283 | T | C | 1 | a0002c0001t0007g0135 | 1 | HG01257.hp2 | intron_variant | MODIFIER | c.33+13916A>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51505283 | |||||||
| chr1:51505349 | A | C | 5 | a0002c0001t0006g0027 a0002c0001t0006g0029 a0002c0001t0006g0034 others(2): Show |
5 | HG02572.hp1 HG03041.hp1 HG03098.hp1 others(2): Show |
intron_variant | MODIFIER | c.33+13850T>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51505349 | |||||||
| chr1:51505406 | T | C | 1 | a0009c0009t0015g0125 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.33+13793A>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51505406 | |||||||
| chr1:51505539 | T | C | 14 | a0002c0004t0002g0004 a0002c0004t0002g0005 a0002c0004t0002g0006 others(11): Show |
14 | HG01167.hp2 HG01346.hp1 HG01891.hp1 others(11): Show |
intron_variant | MODIFIER | c.33+13660A>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51505539 | |||||||
| chr1:51505616 | C | T | 1 | a0001c0003t0001g0094 | 1 | HG00733.hp1 | intron_variant | MODIFIER | c.33+13583G>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51505616 | |||||||
| chr1:51505709 | T | C | 4 | a0001c0002t0001g0026 a0001c0002t0001g0046 a0001c0002t0001g0047 others(1): Show |
4 | HG00639.hp2 HG02647.hp1 HG02818.hp2 others(1): Show |
intron_variant | MODIFIER | c.33+13490A>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51505709 | |||||||
| chr1:51505807 | A | T | 1 | a0001c0002t0017g0033 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.33+13392T>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51505807 | |||||||
| chr1:51505826 | C | G | 2 | a0001c0002t0017g0033 a0007c0008t0002g0032 |
2 | HG02717.hp1 HG02976.hp1 |
intron_variant | MODIFIER | c.33+13373G>C | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51505826 | |||||||
| chr1:51505853 | G | A | 1 | a0003c0005t0001g0017 | 1 | NA20752.hp2 | intron_variant | MODIFIER | c.33+13346C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51505853 | |||||||
| chr1:51505871 | A | AATTTATT others(5): Show |
13 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(10): Show |
13 | HG00642.hp1 HG00738.hp1 HG01109.hp2 others(10): Show |
intron_variant | MODIFIER | c.33+13316_33+13327d others(14): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51505871 | |||||||
| chr1:51505928 | C | T | 9 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(6): Show |
9 | HG00642.hp1 HG01109.hp2 HG01257.hp2 others(6): Show |
intron_variant | MODIFIER | c.33+13271G>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51505928 | |||||||
| chr1:51505979 | T | C | 1 | a0001c0003t0001g0093 | 1 | HG03834.hp1 | intron_variant | MODIFIER | c.33+13220A>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51505979 | |||||||
| chr1:51506018 | C | G | 4 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(1): Show |
4 | HG00642.hp1 HG01257.hp2 HG03130.hp1 others(1): Show |
intron_variant | MODIFIER | c.33+13181G>C | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51506018 | |||||||
| chr1:51506185 | C | A | 5 | a0002c0001t0006g0027 a0002c0001t0006g0029 a0002c0001t0006g0034 others(2): Show |
5 | HG02572.hp1 HG03041.hp1 HG03098.hp1 others(2): Show |
intron_variant | MODIFIER | c.33+13014G>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51506185 | |||||||
| chr1:51506379 | T | C | 2 | a0002c0001t0012g0001 a0002c0001t0012g0003 |
2 | HG02257.hp1 HG03139.hp2 |
intron_variant | MODIFIER | c.33+12820A>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51506379 | |||||||
| chr1:51506656 | A | T | 1 | a0002c0001t0006g0027 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.33+12543T>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51506656 | |||||||
| chr1:51506670 | A | C | 14 | a0002c0004t0002g0004 a0002c0004t0002g0005 a0002c0004t0002g0006 others(11): Show |
14 | HG01167.hp2 HG01346.hp1 HG01891.hp1 others(11): Show |
intron_variant | MODIFIER | c.33+12529T>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51506670 | |||||||
| chr1:51506749 | C | T | 1 | a0002c0001t0005g0148 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.33+12450G>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51506749 | |||||||
| chr1:51506786 | G | GA | 5 | a0001c0002t0001g0101 a0001c0002t0003g0090 a0002c0001t0004g0042 others(2): Show |
5 | HG01168.hp2 HG02630.hp1 HG02723.hp1 others(2): Show |
intron_variant | MODIFIER | c.33+12412dupT | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51506786 | |||||||
| chr1:51506812 | CAGAATGT others(13): Show |
C | 5 | a0002c0001t0011g0130 a0002c0001t0011g0131 a0002c0001t0011g0132 others(2): Show |
5 | HG01109.hp2 HG02559.hp2 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.33+12367_33+12386d others(22): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51506812 | |||||||
| chr1:51506978 | T | C | 14 | a0002c0001t0005g0139 a0002c0001t0005g0140 a0002c0001t0005g0142 others(11): Show |
14 | HG01109.hp1 HG01175.hp1 HG01884.hp2 others(11): Show |
intron_variant | MODIFIER | c.33+12221A>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51506978 | |||||||
| chr1:51507012 | C | T | 16 | a0002c0001t0005g0139 a0002c0001t0005g0140 a0002c0001t0005g0142 others(13): Show |
16 | HG01109.hp1 HG01175.hp1 HG01884.hp2 others(13): Show |
intron_variant | MODIFIER | c.33+12187G>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51507012 | |||||||
| chr1:51507779 | T | C | 5 | a0002c0001t0009g0116 a0002c0001t0009g0117 a0002c0001t0009g0118 others(2): Show |
5 | HG00735.hp2 HG03491.hp1 HG03492.hp2 others(2): Show |
intron_variant | MODIFIER | c.33+11420A>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51507779 | |||||||
| chr1:51507894 | T | C | 2 | a0002c0001t0014g0036 a0002c0001t0014g0037 |
2 | HG02451.hp2 HG02976.hp2 |
intron_variant | MODIFIER | c.33+11305A>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51507894 | |||||||
| chr1:51508186 | G | GAGAAA | 11 | a0001c0002t0001g0046 a0001c0002t0001g0048 a0001c0002t0001g0077 others(8): Show |
11 | HG00558.hp1 HG01261.hp2 HG02451.hp1 others(8): Show |
intron_variant | MODIFIER | c.33+11008_33+11012d others(7): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51508186 | |||||||
| chr1:51508186 | G | GAGAAAAG others(3): Show |
14 | a0001c0002t0001g0026 a0001c0002t0001g0047 a0001c0002t0001g0056 others(11): Show |
14 | HG00558.hp2 HG00639.hp1 HG00639.hp2 others(11): Show |
intron_variant | MODIFIER | c.33+11003_33+11012d others(12): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51508186 | |||||||
| chr1:51508186 | G | GAGAAAAG others(8): Show |
6 | a0001c0002t0001g0088 a0001c0002t0001g0105 a0001c0002t0001g0113 others(3): Show |
6 | HG00741.hp2 HG01175.hp1 HG03041.hp2 others(3): Show |
intron_variant | MODIFIER | c.33+10998_33+11012d others(17): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51508186 | |||||||
| chr1:51508186 | G | GAGAAAAG others(13): Show |
3 | a0001c0002t0003g0090 a0002c0001t0005g0142 a0002c0001t0023g0150 |
3 | HG02055.hp2 HG02258.hp2 HG02723.hp1 |
intron_variant | MODIFIER | c.33+10993_33+11012d others(22): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51508186 | |||||||
| chr1:51508186 | G | GAGAAAAG others(18): Show |
1 | a0002c0001t0004g0043 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.33+10988_33+11012d others(27): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51508186 | |||||||
| chr1:51508186 | GAGAAA | G | 12 | a0001c0002t0003g0092 a0001c0003t0001g0053 a0001c0003t0001g0058 others(9): Show |
12 | HG00642.hp2 HG00738.hp1 HG01074.hp1 others(9): Show |
intron_variant | MODIFIER | c.33+11008_33+11012d others(7): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51508186 | |||||||
| chr1:51508186 | GAGAAAAG others(3): Show |
G | 19 | a0002c0001t0004g0018 a0002c0001t0004g0019 a0002c0001t0004g0020 others(16): Show |
19 | HG00733.hp2 HG00735.hp1 HG01192.hp1 others(16): Show |
intron_variant | MODIFIER | c.33+11003_33+11012d others(12): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51508186 | |||||||
| chr1:51508186 | GAGAAAAG others(8): Show |
G | 1 | a0002c0001t0004g0044 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.33+10998_33+11012d others(17): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51508186 | |||||||
| chr1:51508186 | GAGAAAAG others(13): Show |
G | 2 | a0001c0006t0001g0107 a0002c0001t0004g0025 |
2 | HG01516.hp2 HG02922.hp2 |
intron_variant | MODIFIER | c.33+10993_33+11012d others(22): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51508186 | |||||||
| chr1:51508186 | GAGAAAAG others(18): Show |
G | 1 | a0002c0001t0010g0039 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.33+10988_33+11012d others(27): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51508186 | |||||||
| chr1:51508213 | GAAAAGAA others(14): Show |
G | 1 | a0002c0001t0012g0002 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.33+10965_33+10985d others(23): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51508213 | |||||||
| chr1:51508216 | AAGAAAAG others(10): Show |
A | 2 | a0001c0003t0001g0065 a0001c0003t0001g0066 |
2 | HG00741.hp1 HG01074.hp2 |
intron_variant | MODIFIER | c.33+10966_33+10982d others(19): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51508216 | |||||||
| chr1:51508221 | AAGAAAAG others(5): Show |
A | 7 | a0001c0003t0001g0064 a0001c0003t0001g0067 a0001c0003t0001g0068 others(4): Show |
7 | HG00738.hp2 HG01192.hp2 HG01346.hp2 others(4): Show |
intron_variant | MODIFIER | c.33+10966_33+10977d others(14): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51508221 | |||||||
| chr1:51508226 | A | AG | 2 | a0002c0001t0011g0130 a0008c0012t0007g0136 |
2 | HG03130.hp1 HG03471.hp2 |
intron_variant | MODIFIER | c.33+10972_33+10973i others(3): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51508226 | |||||||
| chr1:51508226 | A | AGAG | 2 | a0002c0001t0007g0134 a0002c0001t0007g0135 |
2 | HG01257.hp2 NA20129.hp2 |
intron_variant | MODIFIER | c.33+10972_33+10973i others(5): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51508226 | |||||||
| chr1:51508228 | GAAAAGA | G | 2 | a0002c0001t0012g0001 a0002c0001t0012g0003 |
2 | HG02257.hp1 HG03139.hp2 |
intron_variant | MODIFIER | c.33+10965_33+10970d others(8): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51508228 | |||||||
| chr1:51508229 | A | AAAGAGAG others(28): Show |
1 | a0007c0008t0002g0032 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.33+10969_33+10970i others(37): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51508229 | |||||||
| chr1:51508229 | A | AG | 2 | a0002c0001t0011g0130 a0008c0012t0007g0136 |
2 | HG03130.hp1 HG03471.hp2 |
intron_variant | MODIFIER | c.33+10969_33+10970i others(3): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51508229 | |||||||
| chr1:51508230 | A | G | 1 | a0001c0006t0001g0112 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.33+10969T>C | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51508230 | |||||||
| chr1:51508231 | A | AGAGAGAG others(8): Show |
1 | a0002c0001t0007g0135 | 1 | HG01257.hp2 | intron_variant | MODIFIER | c.33+10967_33+10968i others(17): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51508231 | |||||||
| chr1:51508231 | A | G | 1 | a0008c0012t0007g0136 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.33+10968T>C | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51508231 | |||||||
| chr1:51508232 | A | G | 1 | a0001c0006t0001g0112 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.33+10967T>C | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51508232 | |||||||
| chr1:51508233 | G | A | 1 | a0001c0006t0001g0112 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.33+10966C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51508233 | |||||||
| chr1:51508234 | A | AAAAGAAA others(41): Show |
1 | a0001c0002t0017g0033 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.33+10964_33+10965i others(50): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51508234 | |||||||
| chr1:51508234 | A | AG | 4 | a0002c0001t0007g0134 a0002c0001t0007g0135 a0002c0001t0011g0130 others(1): Show |
4 | HG01257.hp2 HG03130.hp1 HG03471.hp2 others(1): Show |
intron_variant | MODIFIER | c.33+10964_33+10965i others(3): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51508234 | |||||||
| chr1:51508234 | A | G | 12 | a0001c0003t0001g0064 a0001c0003t0001g0065 a0001c0003t0001g0066 others(9): Show |
12 | HG00642.hp1 HG00738.hp2 HG00741.hp1 others(9): Show |
intron_variant | MODIFIER | c.33+10965T>C | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51508234 | |||||||
| chr1:51508236 | A | AG | 3 | a0001c0003t0001g0061 a0001c0003t0001g0062 a0001c0003t0001g0063 |
3 | HG01168.hp1 HG01261.hp1 HG01952.hp2 |
intron_variant | MODIFIER | c.33+10962_33+10963i others(3): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51508236 | |||||||
| chr1:51508236 | A | AGAG | 5 | a0002c0001t0011g0131 a0002c0001t0011g0132 a0007c0008t0002g0032 others(2): Show |
5 | HG02559.hp2 HG02976.hp1 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.33+10962_33+10963i others(5): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51508236 | |||||||
| chr1:51508236 | A | G | 16 | a0001c0003t0001g0064 a0001c0003t0001g0065 a0001c0003t0001g0066 others(13): Show |
16 | HG00642.hp1 HG00738.hp2 HG00741.hp1 others(13): Show |
intron_variant | MODIFIER | c.33+10963T>C | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51508236 | |||||||
| chr1:51508238 | G | GA | 3 | a0001c0002t0001g0101 a0001c0002t0001g0128 a0002c0001t0005g0145 |
3 | HG01109.hp1 HG01168.hp2 NA19011.hp2 |
intron_variant | MODIFIER | c.33+10960dupT | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51508238 | |||||||
| chr1:51508238 | G | GAAAAGA | 2 | a0002c0001t0005g0149 a0002c0001t0005g0151 |
2 | HG01891.hp2 HG03139.hp1 |
intron_variant | MODIFIER | c.33+10960_33+10961i others(8): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51508238 | |||||||
| chr1:51508238 | G | GAAAAGAA others(4): Show |
2 | a0002c0001t0005g0147 a0002c0001t0021g0143 |
2 | HG01884.hp2 HG03486.hp2 |
intron_variant | MODIFIER | c.33+10960_33+10961i others(13): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51508238 | |||||||
| chr1:51508238 | G | GAAAAGAA others(9): Show |
1 | a0001c0002t0013g0102 | 1 | HG01952.hp1 | intron_variant | MODIFIER | c.33+10960_33+10961i others(18): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51508238 | |||||||
| chr1:51508240 | A | AAAG | 5 | a0001c0002t0001g0096 a0001c0002t0001g0097 a0001c0002t0001g0098 others(2): Show |
5 | HG03654.hp2 HG03688.hp1 HG04204.hp1 others(2): Show |
intron_variant | MODIFIER | c.33+10958_33+10959i others(5): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51508240 | |||||||
| chr1:51508240 | A | AAAGAAAA others(1): Show |
2 | a0001c0002t0001g0100 a0006c0013t0001g0099 |
2 | HG01175.hp2 HG02970.hp1 |
intron_variant | MODIFIER | c.33+10958_33+10959i others(10): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51508240 | |||||||
| chr1:51508240 | A | AAAGAAAA others(6): Show |
2 | a0001c0002t0001g0045 a0002c0001t0004g0042 |
2 | HG02572.hp2 NA19240.hp2 |
intron_variant | MODIFIER | c.33+10958_33+10959i others(15): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51508240 | |||||||
| chr1:51508240 | A | AAAGAAAA others(13): Show |
1 | a0001c0002t0001g0110 | 1 | HG04115.hp2 | intron_variant | MODIFIER | c.33+10958_33+10959i others(22): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51508240 | |||||||
| chr1:51508240 | A | G | 13 | a0001c0003t0001g0061 a0001c0003t0001g0062 a0001c0003t0001g0063 others(10): Show |
13 | HG01168.hp1 HG01261.hp1 HG01952.hp2 others(10): Show |
intron_variant | MODIFIER | c.33+10959T>C | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51508240 | |||||||
| chr1:51508241 | A | AAGAAAAG | 2 | a0002c0001t0009g0117 a0002c0001t0009g0118 |
2 | HG03491.hp1 HG03492.hp2 |
intron_variant | MODIFIER | c.33+10957_33+10958i others(9): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51508241 | |||||||
| chr1:51508241 | A | AAGAAAAG others(5): Show |
2 | a0002c0001t0009g0119 a0002c0001t0022g0115 |
2 | HG00735.hp2 HG06807.hp1 |
intron_variant | MODIFIER | c.33+10957_33+10958i others(14): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51508241 | |||||||
| chr1:51508241 | AG | A | 2 | a0001c0002t0001g0060 a0001c0002t0001g0103 |
2 | HG00438.hp2 HG03491.hp2 |
intron_variant | MODIFIER | c.33+10957delC | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51508241 | |||||||
| chr1:51508242 | G | A | 18 | a0001c0002t0001g0045 a0001c0002t0001g0051 a0001c0002t0001g0096 others(15): Show |
18 | HG00735.hp2 HG01168.hp1 HG01175.hp2 others(15): Show |
intron_variant | MODIFIER | c.33+10957C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51508242 | |||||||
| chr1:51508244 | G | A | 14 | a0001c0002t0001g0051 a0001c0002t0001g0101 a0001c0002t0001g0128 others(11): Show |
14 | HG00735.hp2 HG01168.hp2 HG01891.hp2 others(11): Show |
intron_variant | MODIFIER | c.33+10955C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51508244 | |||||||
| chr1:51508246 | G | A | 4 | a0001c0002t0001g0060 a0002c0001t0005g0146 a0002c0001t0006g0034 others(1): Show |
4 | HG00438.hp2 HG02615.hp1 HG03098.hp1 others(1): Show |
intron_variant | MODIFIER | c.33+10953C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51508246 | |||||||
| chr1:51508246 | GAA | G | 11 | a0001c0003t0001g0064 a0001c0003t0001g0065 a0001c0003t0001g0066 others(8): Show |
11 | HG00738.hp2 HG00741.hp1 HG01074.hp2 others(8): Show |
intron_variant | MODIFIER | c.33+10951_33+10952d others(4): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51508246 | |||||||
| chr1:51508248 | A | AAG | 3 | a0001c0002t0001g0056 a0001c0002t0003g0072 a0001c0002t0003g0073 |
3 | HG03130.hp2 HG04199.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.33+10949_33+10950d others(4): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51508248 | |||||||
| chr1:51508248 | A | G | 32 | a0001c0002t0001g0045 a0001c0002t0001g0060 a0001c0002t0001g0096 others(29): Show |
32 | HG00438.hp2 HG00642.hp1 HG01168.hp1 others(29): Show |
intron_variant | MODIFIER | c.33+10951T>C | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51508248 | |||||||
| chr1:51508248 | AAG | A | 27 | a0001c0002t0001g0127 a0001c0002t0003g0092 a0001c0003t0001g0053 others(24): Show |
27 | HG00438.hp1 HG00642.hp2 HG00733.hp1 others(24): Show |
intron_variant | MODIFIER | c.33+10949_33+10950d others(4): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51508248 | |||||||
| chr1:51508250 | G | A | 9 | a0001c0002t0001g0045 a0001c0002t0001g0096 a0001c0002t0001g0097 others(6): Show |
9 | HG01175.hp2 HG02572.hp2 HG02970.hp1 others(6): Show |
intron_variant | MODIFIER | c.33+10949C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51508250 | |||||||
| chr1:51508252 | G | A | 5 | a0001c0002t0001g0101 a0001c0002t0001g0103 a0001c0002t0001g0128 others(2): Show |
5 | HG01168.hp2 HG01891.hp2 HG01952.hp1 others(2): Show |
intron_variant | MODIFIER | c.33+10947C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51508252 | |||||||
| chr1:51508254 | G | A | 4 | a0001c0002t0001g0060 a0002c0001t0005g0146 a0002c0001t0007g0134 others(1): Show |
4 | HG00438.hp2 HG02615.hp1 HG03471.hp2 others(1): Show |
intron_variant | MODIFIER | c.33+10945C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51508254 | |||||||
| chr1:51508254 | G | GAA | 3 | a0001c0002t0017g0033 a0002c0001t0007g0135 a0008c0012t0007g0136 |
3 | HG01257.hp2 HG02717.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.33+10944_33+10945i others(4): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51508254 | |||||||
| chr1:51508256 | G | A | 2 | a0001c0002t0001g0051 a0003c0005t0001g0057 |
2 | HG01257.hp1 HG03688.hp2 |
intron_variant | MODIFIER | c.33+10943C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51508256 | |||||||
| chr1:51508258 | G | A | 2 | a0001c0006t0001g0112 a0002c0001t0011g0130 |
2 | HG02615.hp2 HG03471.hp2 |
intron_variant | MODIFIER | c.33+10941C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51508258 | |||||||
| chr1:51508260 | G | A | 1 | a0001c0002t0001g0103 | 1 | HG03491.hp2 | intron_variant | MODIFIER | c.33+10939C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51508260 | |||||||
| chr1:51508262 | G | A | 4 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0009g0116 others(1): Show |
4 | HG00642.hp1 HG03130.hp1 NA19030.hp2 others(1): Show |
intron_variant | MODIFIER | c.33+10937C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51508262 | |||||||
| chr1:51508262 | G | GAA | 3 | a0002c0001t0011g0131 a0002c0001t0011g0132 a0010c0015t0011g0152 |
3 | HG02559.hp2 HG03195.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.33+10936_33+10937i others(4): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51508262 | |||||||
| chr1:51508266 | G | A | 22 | a0001c0003t0001g0061 a0001c0003t0001g0062 a0001c0003t0001g0063 others(19): Show |
22 | HG00642.hp1 HG00738.hp2 HG00741.hp1 others(19): Show |
intron_variant | MODIFIER | c.33+10933C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51508266 | |||||||
| chr1:51508266 | G | GAAAGAA | 3 | a0002c0001t0009g0117 a0002c0001t0009g0118 a0002c0001t0009g0119 |
3 | HG00735.hp2 HG03491.hp1 HG03492.hp2 |
intron_variant | MODIFIER | c.33+10932_33+10933i others(8): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51508266 | |||||||
| chr1:51508266 | G | GAGAGAGA others(1): Show |
2 | a0001c0002t0001g0104 a0001c0002t0001g0105 |
2 | HG00639.hp1 NA20752.hp1 |
intron_variant | MODIFIER | c.33+10925_33+10932d others(10): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51508266 | |||||||
| chr1:51508270 | G | A | 27 | a0002c0001t0004g0042 a0002c0001t0004g0043 a0002c0001t0005g0139 others(24): Show |
27 | HG00738.hp1 HG01167.hp2 HG01346.hp1 others(24): Show |
intron_variant | MODIFIER | c.33+10929C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51508270 | |||||||
| chr1:51508270 | G | GAA | 17 | a0001c0002t0002g0030 a0001c0002t0002g0031 a0002c0001t0004g0018 others(14): Show |
17 | HG00733.hp2 HG00735.hp1 HG01109.hp2 others(14): Show |
intron_variant | MODIFIER | c.33+10928_33+10929i others(4): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51508270 | |||||||
| chr1:51508270 | G | GAGAA | 7 | a0002c0001t0005g0140 a0002c0001t0005g0142 a0002c0001t0005g0147 others(4): Show |
7 | HG01175.hp1 HG01884.hp2 HG02055.hp2 others(4): Show |
intron_variant | MODIFIER | c.33+10925_33+10928d others(6): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51508270 | |||||||
| chr1:51508272 | GAA | G | 2 | a0002c0001t0016g0028 a0003c0005t0001g0057 |
2 | HG01257.hp1 HG03041.hp1 |
intron_variant | MODIFIER | c.33+10925_33+10926d others(4): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51508272 | |||||||
| chr1:51508274 | A | G | 7 | a0001c0002t0001g0051 a0001c0002t0001g0103 a0001c0002t0017g0033 others(4): Show |
7 | HG01891.hp2 HG02615.hp1 HG02717.hp1 others(4): Show |
intron_variant | MODIFIER | c.33+10925T>C | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51508274 | |||||||
| chr1:51508274 | AAGAG | A | 5 | a0002c0001t0005g0144 a0002c0001t0005g0145 a0002c0001t0005g0149 others(2): Show |
5 | HG01109.hp1 HG02717.hp2 HG03139.hp1 others(2): Show |
intron_variant | MODIFIER | c.33+10921_33+10924d others(6): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51508274 | |||||||
| chr1:51508278 | G | A | 5 | a0001c0002t0017g0033 a0002c0001t0004g0044 a0002c0001t0005g0146 others(2): Show |
5 | HG01891.hp2 HG02615.hp1 HG02717.hp1 others(2): Show |
intron_variant | MODIFIER | c.33+10921C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51508278 | |||||||
| chr1:51508278 | GAGAA | G | 2 | a0001c0002t0001g0126 a0001c0002t0001g0127 |
2 | HG00438.hp1 NA18747.hp1 |
intron_variant | MODIFIER | c.33+10917_33+10920d others(6): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51508278 | |||||||
| chr1:51508282 | A | G | 1 | a0001c0006t0001g0112 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.33+10917T>C | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51508282 | |||||||
| chr1:51508288 | G | A | 1 | a0001c0006t0001g0112 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.33+10911C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51508288 | |||||||
| chr1:51508288 | GAA | G | 2 | a0002c0001t0007g0133 a0002c0001t0009g0116 |
2 | HG00642.hp1 NA19030.hp2 |
intron_variant | MODIFIER | c.33+10909_33+10910d others(4): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51508288 | |||||||
| chr1:51508290 | A | G | 28 | a0001c0002t0001g0060 a0001c0002t0001g0079 a0001c0003t0001g0061 others(25): Show |
28 | HG00438.hp2 HG00735.hp2 HG00738.hp2 others(25): Show |
intron_variant | MODIFIER | c.33+10909T>C | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51508290 | |||||||
| chr1:51508292 | G | GAAAGAGA others(3): Show |
3 | a0002c0001t0009g0117 a0002c0001t0009g0118 a0002c0001t0009g0119 |
3 | HG00735.hp2 HG03491.hp1 HG03492.hp2 |
intron_variant | MODIFIER | c.33+10906_33+10907i others(12): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51508292 | |||||||
| chr1:51508296 | G | A | 21 | a0001c0002t0001g0060 a0001c0003t0001g0061 a0001c0003t0001g0062 others(18): Show |
21 | HG00438.hp2 HG00738.hp2 HG00741.hp1 others(18): Show |
intron_variant | MODIFIER | c.33+10903C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51508296 | |||||||
| chr1:51508296 | G | GAA | 4 | a0001c0002t0001g0110 a0002c0001t0011g0131 a0002c0001t0011g0132 others(1): Show |
4 | HG02559.hp2 HG03195.hp1 HG04115.hp2 others(1): Show |
intron_variant | MODIFIER | c.33+10902_33+10903i others(4): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51508296 | |||||||
| chr1:51508298 | G | A | 14 | a0001c0002t0001g0051 a0001c0002t0017g0033 a0002c0001t0005g0144 others(11): Show |
14 | HG01109.hp1 HG01257.hp1 HG01891.hp2 others(11): Show |
intron_variant | MODIFIER | c.33+10901C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51508298 | |||||||
| chr1:51508300 | G | A | 3 | a0002c0001t0009g0117 a0002c0001t0009g0118 a0002c0001t0009g0119 |
3 | HG00735.hp2 HG03491.hp1 HG03492.hp2 |
intron_variant | MODIFIER | c.33+10899C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51508300 | |||||||
| chr1:51508304 | A | G | 12 | a0001c0002t0001g0051 a0001c0002t0017g0033 a0002c0001t0005g0144 others(9): Show |
12 | HG01109.hp1 HG01257.hp1 HG01891.hp2 others(9): Show |
intron_variant | MODIFIER | c.33+10895T>C | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51508304 | |||||||
| chr1:51508306 | G | A | 1 | a0002c0001t0011g0130 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.33+10893C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51508306 | |||||||
| chr1:51508308 | G | A | 1 | a0002c0001t0007g0135 | 1 | HG01257.hp2 | intron_variant | MODIFIER | c.33+10891C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51508308 | |||||||
| chr1:51508308 | G | GAGAA | 3 | a0002c0001t0008g0120 a0002c0001t0008g0121 a0002c0001t0008g0122 |
3 | HG01516.hp1 HG01517.hp1 NA20805.hp2 |
intron_variant | MODIFIER | c.33+10887_33+10890d others(6): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51508308 | |||||||
| chr1:51508312 | AAGAG | A | 3 | a0002c0001t0006g0034 a0002c0001t0006g0035 a0002c0001t0009g0116 |
3 | HG03098.hp1 NA18906.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.33+10883_33+10886d others(6): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51508312 | |||||||
| chr1:51508314 | G | GAAAGAGA others(3): Show |
1 | a0002c0001t0008g0123 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.33+10884_33+10885i others(12): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51508314 | |||||||
| chr1:51508316 | G | A | 3 | a0002c0001t0007g0134 a0002c0001t0007g0135 a0008c0012t0007g0136 |
3 | HG01257.hp2 HG03130.hp1 NA20129.hp2 |
intron_variant | MODIFIER | c.33+10883C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51508316 | |||||||
| chr1:51508316 | G | GAAAGAGA others(3): Show |
3 | a0002c0001t0011g0131 a0002c0001t0011g0132 a0010c0015t0011g0152 |
3 | HG02559.hp2 HG03195.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.33+10882_33+10883i others(12): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51508316 | |||||||
| chr1:51508322 | G | GAGAA | 3 | a0001c0003t0001g0108 a0001c0003t0001g0109 a0001c0006t0001g0107 |
3 | HG01346.hp2 HG01516.hp2 HG04115.hp1 |
intron_variant | MODIFIER | c.33+10876_33+10877i others(6): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51508322 | |||||||
| chr1:51508324 | G | A | 8 | a0002c0001t0007g0134 a0002c0001t0007g0135 a0002c0001t0011g0130 others(5): Show |
8 | HG01257.hp2 HG02559.hp2 HG03130.hp1 others(5): Show |
intron_variant | MODIFIER | c.33+10875C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51508324 | |||||||
| chr1:51508324 | G | GAAAGAGA others(7): Show |
1 | a0004c0010t0026g0129 | 1 | HG01109.hp2 | intron_variant | MODIFIER | c.33+10874_33+10875i others(16): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51508324 | |||||||
| chr1:51508325 | A | AG | 2 | a0002c0001t0007g0134 a0008c0012t0007g0136 |
2 | HG03130.hp1 NA20129.hp2 |
intron_variant | MODIFIER | c.33+10873dupC | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51508325 | |||||||
| chr1:51508326 | G | A | 23 | a0001c0002t0001g0060 a0001c0003t0001g0053 a0001c0003t0001g0058 others(20): Show |
23 | HG00438.hp2 HG00642.hp1 HG00642.hp2 others(20): Show |
intron_variant | MODIFIER | c.33+10873C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51508326 | |||||||
| chr1:51508328 | A | G | 28 | a0001c0002t0001g0060 a0001c0003t0001g0053 a0001c0003t0001g0058 others(25): Show |
28 | HG00438.hp2 HG00642.hp1 HG00642.hp2 others(25): Show |
intron_variant | MODIFIER | c.33+10871T>C | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51508328 | |||||||
| chr1:51508330 | G | A | 4 | a0001c0003t0001g0108 a0001c0003t0001g0109 a0001c0006t0001g0107 others(1): Show |
4 | HG01346.hp2 HG01516.hp2 HG03486.hp2 others(1): Show |
intron_variant | MODIFIER | c.33+10869C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51508330 | |||||||
| chr1:51508330 | G | GAA | 6 | a0001c0002t0001g0110 a0001c0006t0001g0112 a0002c0001t0007g0134 others(3): Show |
6 | HG00738.hp1 HG01257.hp2 HG02615.hp2 others(3): Show |
intron_variant | MODIFIER | c.33+10868_33+10869i others(4): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51508330 | |||||||
| chr1:51508330 | G | GGAA | 3 | a0002c0001t0011g0131 a0002c0001t0011g0132 a0010c0015t0011g0152 |
3 | HG02559.hp2 HG03195.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.33+10868_33+10869i others(5): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51508330 | |||||||
| chr1:51508330 | GAGAA | G | 2 | a0001c0002t0002g0030 a0001c0002t0002g0031 |
2 | HG02630.hp2 NA19240.hp1 |
intron_variant | MODIFIER | c.33+10865_33+10868d others(6): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51508330 | |||||||
| chr1:51508331 | A | AAAG | 2 | a0002c0001t0011g0130 a0004c0010t0026g0129 |
2 | HG01109.hp2 HG03471.hp2 |
intron_variant | MODIFIER | c.33+10867_33+10868i others(5): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51508331 | |||||||
| chr1:51508332 | G | A | 1 | a0002c0001t0022g0115 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.33+10867C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51508332 | |||||||
| chr1:51508334 | A | G | 4 | a0001c0002t0001g0048 a0001c0002t0001g0051 a0002c0001t0022g0115 others(1): Show |
4 | HG01257.hp1 HG02818.hp2 HG03688.hp2 others(1): Show |
intron_variant | MODIFIER | c.33+10865T>C | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51508334 | |||||||
| chr1:51508334 | AAG | A | 3 | a0002c0001t0005g0148 a0002c0001t0005g0149 a0002c0001t0014g0037 |
3 | HG02451.hp2 HG02486.hp1 HG03139.hp1 |
intron_variant | MODIFIER | c.33+10863_33+10864d others(4): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51508334 | |||||||
| chr1:51508334 | AAGAG | A | 4 | a0001c0003t0001g0053 a0001c0003t0001g0111 a0001c0003t0003g0054 others(1): Show |
4 | HG00642.hp2 HG02145.hp2 HG02572.hp1 others(1): Show |
intron_variant | MODIFIER | c.33+10861_33+10864d others(6): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51508334 | |||||||
| chr1:51508336 | G | A | 3 | a0001c0002t0001g0048 a0001c0002t0001g0051 a0003c0005t0001g0057 |
3 | HG01257.hp1 HG02818.hp2 HG03688.hp2 |
intron_variant | MODIFIER | c.33+10863C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51508336 | |||||||
| chr1:51508336 | GAGAGAA | G | 3 | a0002c0001t0005g0140 a0002c0001t0005g0144 a0005c0011t0025g0138 |
3 | HG02257.hp2 HG03209.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.33+10857_33+10862d others(8): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51508336 | |||||||
| chr1:51508338 | G | A | 35 | a0001c0002t0001g0060 a0001c0002t0001g0110 a0001c0003t0001g0058 others(32): Show |
35 | HG00438.hp2 HG00642.hp1 HG00738.hp1 others(32): Show |
intron_variant | MODIFIER | c.33+10861C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51508338 | |||||||
| chr1:51508338 | G | GAA | 5 | a0002c0001t0005g0142 a0002c0001t0005g0145 a0002c0001t0005g0146 others(2): Show |
5 | HG01109.hp1 HG01175.hp1 HG01891.hp2 others(2): Show |
intron_variant | MODIFIER | c.33+10860_33+10861i others(4): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51508338 | |||||||
| chr1:51508338 | G | GAAAGAA | 3 | a0002c0001t0005g0139 a0002c0001t0014g0036 a0002c0001t0023g0150 |
3 | HG02258.hp2 HG02976.hp2 NA20300.hp1 |
intron_variant | MODIFIER | c.33+10860_33+10861i others(8): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51508338 | |||||||
| chr1:51508338 | G | GAGAA | 15 | a0001c0002t0001g0075 a0001c0002t0001g0082 a0001c0002t0001g0088 others(12): Show |
15 | HG00733.hp2 HG01261.hp2 HG02257.hp1 others(12): Show |
intron_variant | MODIFIER | c.33+10857_33+10860d others(6): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51508338 | |||||||
| chr1:51508338 | G | GAGAAAGA others(1): Show |
7 | a0001c0002t0001g0079 a0001c0002t0001g0114 a0001c0002t0020g0050 others(4): Show |
7 | HG00733.hp1 HG02738.hp1 HG03491.hp1 others(4): Show |
intron_variant | MODIFIER | c.33+10853_33+10860d others(10): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51508338 | |||||||
| chr1:51508338 | G | GAGAAAGA others(5): Show |
5 | a0001c0002t0003g0090 a0001c0002t0018g0083 a0001c0003t0001g0091 others(2): Show |
5 | HG01074.hp1 HG01167.hp1 HG02630.hp1 others(2): Show |
intron_variant | MODIFIER | c.33+10849_33+10860d others(14): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51508338 | |||||||
| chr1:51508338 | GAGAA | G | 25 | a0001c0002t0001g0045 a0001c0002t0001g0047 a0001c0002t0001g0052 others(22): Show |
25 | HG00741.hp2 HG01167.hp2 HG01175.hp2 others(22): Show |
intron_variant | MODIFIER | c.33+10857_33+10860d others(6): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51508338 | |||||||
| chr1:51508338 | GAGAAAGA others(1): Show |
G | 5 | a0002c0001t0004g0018 a0002c0001t0004g0021 a0002c0001t0010g0038 others(2): Show |
5 | HG00735.hp1 HG01192.hp1 HG02109.hp2 others(2): Show |
intron_variant | MODIFIER | c.33+10853_33+10860d others(10): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51508338 | |||||||
| chr1:51508340 | G | A | 2 | a0001c0002t0002g0030 a0001c0002t0002g0031 |
2 | HG02630.hp2 NA19240.hp1 |
intron_variant | MODIFIER | c.33+10859C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51508340 | |||||||
| chr1:51508342 | A | G | 3 | a0001c0002t0002g0030 a0001c0002t0002g0031 a0002c0001t0022g0115 |
3 | HG02630.hp2 HG06807.hp1 NA19240.hp1 |
intron_variant | MODIFIER | c.33+10857T>C | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51508342 | |||||||
| chr1:51508346 | A | G | 2 | a0001c0002t0001g0051 a0003c0005t0001g0057 |
2 | HG01257.hp1 HG03688.hp2 |
intron_variant | MODIFIER | c.33+10853T>C | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51508346 | |||||||
| chr1:51508350 | A | G | 2 | a0001c0002t0002g0030 a0001c0002t0002g0031 |
2 | HG02630.hp2 NA19240.hp1 |
intron_variant | MODIFIER | c.33+10849T>C | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51508350 | |||||||
| chr1:51508370 | A | G | 3 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 |
3 | HG00642.hp1 HG01257.hp2 NA20129.hp2 |
intron_variant | MODIFIER | c.33+10829T>C | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51508370 | |||||||
| chr1:51508385 | A | G | 9 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(6): Show |
9 | HG00642.hp1 HG01109.hp2 HG01257.hp2 others(6): Show |
intron_variant | MODIFIER | c.33+10814T>C | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51508385 | |||||||
| chr1:51508404 | A | G | 1 | a0001c0002t0003g0049 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.33+10795T>C | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51508404 | |||||||
| chr1:51508672 | T | C | 9 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(6): Show |
9 | HG00642.hp1 HG01109.hp2 HG01257.hp2 others(6): Show |
intron_variant | MODIFIER | c.33+10527A>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51508672 | |||||||
| chr1:51508778 | T | C | 2 | a0002c0001t0004g0042 a0002c0001t0004g0043 |
2 | HG02630.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.33+10421A>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51508778 | |||||||
| chr1:51508839 | A | G | 76 | a0001c0002t0002g0030 a0001c0002t0002g0031 a0001c0002t0017g0033 others(73): Show |
76 | HG00642.hp1 HG00733.hp2 HG00735.hp1 others(73): Show |
intron_variant | MODIFIER | c.33+10360T>C | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51508839 | |||||||
| chr1:51508938 | C | G | 4 | a0001c0002t0002g0030 a0001c0002t0002g0031 a0001c0002t0017g0033 others(1): Show |
4 | HG02630.hp2 HG02717.hp1 HG02976.hp1 others(1): Show |
intron_variant | MODIFIER | c.33+10261G>C | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51508938 | |||||||
| chr1:51508974 | A | G | 2 | a0001c0002t0001g0051 a0001c0002t0001g0056 |
2 | HG03688.hp2 HG04199.hp2 |
intron_variant | MODIFIER | c.33+10225T>C | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51508974 | |||||||
| chr1:51509246 | T | TTCATATT others(307): Show |
1 | a0002c0001t0004g0044 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.33+9952_33+9953ins others(314): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51509246 | |||||||
| chr1:51509246 | T | TTCATATT others(308): Show |
2 | a0002c0001t0004g0042 a0002c0001t0004g0043 |
2 | HG02630.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.33+9952_33+9953ins others(315): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51509246 | |||||||
| chr1:51509246 | T | TTCATTTT others(307): Show |
4 | a0002c0001t0010g0038 a0002c0001t0010g0039 a0002c0001t0010g0041 others(1): Show |
4 | HG02109.hp2 HG02717.hp2 HG02818.hp1 others(1): Show |
intron_variant | MODIFIER | c.33+9952_33+9953ins others(314): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51509246 | |||||||
| chr1:51509502 | A | G | 3 | a0002c0001t0006g0027 a0002c0001t0006g0029 a0002c0001t0016g0028 |
3 | HG02572.hp1 HG03041.hp1 NA18522.hp2 |
intron_variant | MODIFIER | c.33+9697T>C | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51509502 | |||||||
| chr1:51509539 | A | G | 13 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(10): Show |
13 | HG00642.hp1 HG00738.hp1 HG01109.hp2 others(10): Show |
intron_variant | MODIFIER | c.33+9660T>C | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51509539 | |||||||
| chr1:51509543 | T | C | 1 | a0002c0001t0008g0123 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.33+9656A>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51509543 | |||||||
| chr1:51509585 | C | T | 1 | a0001c0002t0019g0055 | 1 | HG00558.hp2 | intron_variant | MODIFIER | c.33+9614G>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51509585 | |||||||
| chr1:51510126 | CAT | C | 2 | a0002c0001t0004g0042 a0002c0001t0004g0043 |
2 | HG02630.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.33+9071_33+9072del others(2): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51510126 | |||||||
| chr1:51510134 | G | C | 16 | a0002c0001t0005g0139 a0002c0001t0005g0140 a0002c0001t0005g0142 others(13): Show |
16 | HG01109.hp1 HG01175.hp1 HG01884.hp2 others(13): Show |
intron_variant | MODIFIER | c.33+9065C>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51510134 | |||||||
| chr1:51510262 | C | G | 1 | a0002c0001t0010g0038 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.33+8937G>C | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51510262 | |||||||
| chr1:51510276 | C | T | 9 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(6): Show |
9 | HG00642.hp1 HG01109.hp2 HG01257.hp2 others(6): Show |
intron_variant | MODIFIER | c.33+8923G>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51510276 | |||||||
| chr1:51510341 | G | C | 1 | a0001c0006t0001g0112 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.33+8858C>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51510341 | |||||||
| chr1:51510835 | G | GA | 4 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(1): Show |
4 | HG00642.hp1 HG01257.hp2 HG03130.hp1 others(1): Show |
intron_variant | MODIFIER | c.33+8363dupT | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51510835 | |||||||
| chr1:51510848 | G | A | 9 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(6): Show |
9 | HG00642.hp1 HG01109.hp2 HG01257.hp2 others(6): Show |
intron_variant | MODIFIER | c.33+8351C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51510848 | |||||||
| chr1:51511211 | T | G | 4 | a0002c0001t0008g0120 a0002c0001t0008g0121 a0002c0001t0008g0122 others(1): Show |
4 | HG00738.hp1 HG01516.hp1 HG01517.hp1 others(1): Show |
intron_variant | MODIFIER | c.33+7988A>C | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51511211 | |||||||
| chr1:51511240 | T | C | 5 | a0002c0001t0009g0116 a0002c0001t0009g0117 a0002c0001t0009g0118 others(2): Show |
5 | HG00735.hp2 HG03491.hp1 HG03492.hp2 others(2): Show |
intron_variant | MODIFIER | c.33+7959A>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51511240 | |||||||
| chr1:51511338 | C | CA | 5 | a0002c0001t0011g0130 a0002c0001t0011g0131 a0002c0001t0011g0132 others(2): Show |
5 | HG01109.hp2 HG02559.hp2 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.33+7860dupT | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51511338 | |||||||
| chr1:51511578 | T | C | 1 | a0002c0001t0004g0044 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.33+7621A>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51511578 | |||||||
| chr1:51511990 | C | T | 5 | a0002c0001t0009g0116 a0002c0001t0009g0117 a0002c0001t0009g0118 others(2): Show |
5 | HG00735.hp2 HG03491.hp1 HG03492.hp2 others(2): Show |
intron_variant | MODIFIER | c.33+7209G>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51511990 | |||||||
| chr1:51512103 | A | G | 7 | a0001c0002t0002g0030 a0001c0002t0002g0031 a0001c0002t0017g0033 others(4): Show |
7 | HG02257.hp1 HG02630.hp2 HG02717.hp1 others(4): Show |
intron_variant | MODIFIER | c.33+7096T>C | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51512103 | |||||||
| chr1:51512126 | A | G | 3 | a0002c0001t0009g0117 a0002c0001t0009g0118 a0002c0001t0009g0119 |
3 | HG00735.hp2 HG03491.hp1 HG03492.hp2 |
intron_variant | MODIFIER | c.33+7073T>C | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51512126 | |||||||
| chr1:51512133 | T | A | 2 | a0002c0001t0014g0036 a0002c0001t0014g0037 |
2 | HG02451.hp2 HG02976.hp2 |
intron_variant | MODIFIER | c.33+7066A>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51512133 | |||||||
| chr1:51512524 | G | A | 63 | a0002c0001t0004g0018 a0002c0001t0004g0019 a0002c0001t0004g0020 others(60): Show |
63 | HG00642.hp1 HG00733.hp2 HG00735.hp1 others(60): Show |
intron_variant | MODIFIER | c.33+6675C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51512524 | |||||||
| chr1:51512534 | A | G | 2 | a0002c0001t0012g0001 a0002c0001t0012g0003 |
2 | HG02257.hp1 HG03139.hp2 |
intron_variant | MODIFIER | c.33+6665T>C | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51512534 | |||||||
| chr1:51512582 | G | C | 5 | a0002c0001t0011g0130 a0002c0001t0011g0131 a0002c0001t0011g0132 others(2): Show |
5 | HG01109.hp2 HG02559.hp2 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.33+6617C>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51512582 | |||||||
| chr1:51512586 | G | C | 4 | a0002c0001t0008g0120 a0002c0001t0008g0121 a0002c0001t0008g0122 others(1): Show |
4 | HG00738.hp1 HG01516.hp1 HG01517.hp1 others(1): Show |
intron_variant | MODIFIER | c.33+6613C>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51512586 | |||||||
| chr1:51512693 | A | G | 16 | a0002c0001t0005g0139 a0002c0001t0005g0140 a0002c0001t0005g0142 others(13): Show |
16 | HG01109.hp1 HG01175.hp1 HG01884.hp2 others(13): Show |
intron_variant | MODIFIER | c.33+6506T>C | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51512693 | |||||||
| chr1:51512700 | T | A | 1 | a0002c0001t0012g0003 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.33+6499A>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51512700 | |||||||
| chr1:51512716 | T | G | 2 | a0002c0001t0006g0034 a0002c0001t0006g0035 |
2 | HG03098.hp1 NA18906.hp2 |
intron_variant | MODIFIER | c.33+6483A>C | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51512716 | |||||||
| chr1:51512800 | CAT | C | 16 | a0002c0001t0005g0139 a0002c0001t0005g0140 a0002c0001t0005g0142 others(13): Show |
16 | HG01109.hp1 HG01175.hp1 HG01884.hp2 others(13): Show |
intron_variant | MODIFIER | c.33+6397_33+6398del others(2): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51512800 | |||||||
| chr1:51512843 | C | CT | 22 | a0001c0002t0001g0045 a0001c0002t0001g0051 a0001c0002t0001g0052 others(19): Show |
22 | HG00642.hp2 HG01109.hp1 HG01175.hp1 others(19): Show |
intron_variant | MODIFIER | c.33+6355dupA | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51512843 | |||||||
| chr1:51512843 | CT | C | 12 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(9): Show |
12 | HG00642.hp1 HG00735.hp2 HG01109.hp2 others(9): Show |
intron_variant | MODIFIER | c.33+6355delA | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51512843 | |||||||
| chr1:51512986 | G | A | 1 | a0001c0002t0001g0113 | 1 | NA18957.hp1 | intron_variant | MODIFIER | c.33+6213C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51512986 | |||||||
| chr1:51513006 | T | A | 7 | a0002c0001t0009g0117 a0002c0001t0009g0118 a0002c0001t0009g0119 others(4): Show |
7 | HG00735.hp2 HG02109.hp2 HG02717.hp2 others(4): Show |
intron_variant | MODIFIER | c.33+6193A>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51513006 | |||||||
| chr1:51513253 | T | C | 14 | a0002c0004t0002g0004 a0002c0004t0002g0005 a0002c0004t0002g0006 others(11): Show |
14 | HG01167.hp2 HG01346.hp1 HG01891.hp1 others(11): Show |
intron_variant | MODIFIER | c.33+5946A>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51513253 | |||||||
| chr1:51513327 | C | G | 2 | a0002c0001t0009g0116 a0002c0001t0022g0115 |
2 | HG06807.hp1 NA19030.hp2 |
intron_variant | MODIFIER | c.33+5872G>C | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51513327 | |||||||
| chr1:51513622 | C | A | 9 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(6): Show |
9 | HG00642.hp1 HG01109.hp2 HG01257.hp2 others(6): Show |
intron_variant | MODIFIER | c.33+5577G>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51513622 | |||||||
| chr1:51513738 | G | A | 1 | a0002c0001t0014g0037 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.33+5461C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51513738 | |||||||
| chr1:51513953 | A | G | 9 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(6): Show |
9 | HG00642.hp1 HG01109.hp2 HG01257.hp2 others(6): Show |
intron_variant | MODIFIER | c.33+5246T>C | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51513953 | |||||||
| chr1:51513954 | T | G | 1 | a0001c0002t0001g0114 | 1 | HG04204.hp1 | intron_variant | MODIFIER | c.33+5245A>C | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51513954 | |||||||
| chr1:51514012 | GGTAGA | G | 5 | a0002c0001t0011g0130 a0002c0001t0011g0131 a0002c0001t0011g0132 others(2): Show |
5 | HG01109.hp2 HG02559.hp2 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.33+5182_33+5186del others(5): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51514012 | |||||||
| chr1:51514081 | G | A | 5 | a0002c0001t0011g0130 a0002c0001t0011g0131 a0002c0001t0011g0132 others(2): Show |
5 | HG01109.hp2 HG02559.hp2 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.33+5118C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51514081 | |||||||
| chr1:51514178 | C | T | 1 | a0001c0002t0020g0050 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.33+5021G>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51514178 | |||||||
| chr1:51514365 | A | AT | 8 | a0001c0002t0003g0049 a0002c0001t0006g0027 a0002c0001t0006g0029 others(5): Show |
8 | HG00642.hp1 HG01257.hp2 HG02572.hp1 others(5): Show |
intron_variant | MODIFIER | c.33+4833dupA | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51514365 | |||||||
| chr1:51514375 | T | A | 4 | a0002c0001t0008g0120 a0002c0001t0008g0121 a0002c0001t0008g0122 others(1): Show |
4 | HG00738.hp1 HG01516.hp1 HG01517.hp1 others(1): Show |
intron_variant | MODIFIER | c.33+4824A>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51514375 | |||||||
| chr1:51514375 | T | TA | 7 | a0002c0001t0004g0042 a0002c0001t0004g0043 a0002c0001t0004g0044 others(4): Show |
7 | HG02109.hp2 HG02630.hp1 HG02717.hp2 others(4): Show |
intron_variant | MODIFIER | c.33+4823dupT | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51514375 | |||||||
| chr1:51514376 | A | T | 9 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(6): Show |
9 | HG00642.hp1 HG01109.hp2 HG01257.hp2 others(6): Show |
intron_variant | MODIFIER | c.33+4823T>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51514376 | |||||||
| chr1:51514377 | A | T | 9 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(6): Show |
9 | HG00642.hp1 HG01109.hp2 HG01257.hp2 others(6): Show |
intron_variant | MODIFIER | c.33+4822T>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51514377 | |||||||
| chr1:51514558 | T | C | 9 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(6): Show |
9 | HG00642.hp1 HG01109.hp2 HG01257.hp2 others(6): Show |
intron_variant | MODIFIER | c.33+4641A>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51514558 | |||||||
| chr1:51514831 | T | C | 13 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(10): Show |
13 | HG00642.hp1 HG00738.hp1 HG01109.hp2 others(10): Show |
intron_variant | MODIFIER | c.33+4368A>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51514831 | |||||||
| chr1:51515258 | T | A | 1 | a0002c0001t0008g0123 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.33+3941A>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51515258 | |||||||
| chr1:51515258 | T | TA | 14 | a0002c0001t0005g0139 a0002c0001t0005g0140 a0002c0001t0005g0142 others(11): Show |
14 | HG01109.hp1 HG01175.hp1 HG01884.hp2 others(11): Show |
intron_variant | MODIFIER | c.33+3940dupT | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51515258 | |||||||
| chr1:51515314 | A | C | 4 | a0001c0002t0001g0026 a0001c0002t0001g0046 a0001c0002t0001g0047 others(1): Show |
4 | HG00639.hp2 HG02647.hp1 HG02818.hp2 others(1): Show |
intron_variant | MODIFIER | c.33+3885T>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51515314 | |||||||
| chr1:51515449 | G | A | 1 | a0001c0002t0001g0114 | 1 | HG04204.hp1 | intron_variant | MODIFIER | c.33+3750C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51515449 | |||||||
| chr1:51515476 | C | T | 4 | a0002c0001t0008g0120 a0002c0001t0008g0121 a0002c0001t0008g0122 others(1): Show |
4 | HG00738.hp1 HG01516.hp1 HG01517.hp1 others(1): Show |
intron_variant | MODIFIER | c.33+3723G>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51515476 | |||||||
| chr1:51515481 | CA | C | 6 | a0001c0002t0001g0045 a0002c0001t0011g0130 a0002c0001t0011g0131 others(3): Show |
6 | HG01109.hp2 HG02559.hp2 HG02572.hp2 others(3): Show |
intron_variant | MODIFIER | c.33+3717delT | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51515481 | |||||||
| chr1:51515486 | A | C | 71 | a0001c0002t0002g0030 a0001c0002t0002g0031 a0001c0002t0017g0033 others(68): Show |
71 | HG00642.hp1 HG00733.hp2 HG00735.hp1 others(68): Show |
intron_variant | MODIFIER | c.33+3713T>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51515486 | |||||||
| chr1:51515487 | A | C | 5 | a0002c0001t0011g0130 a0002c0001t0011g0131 a0002c0001t0011g0132 others(2): Show |
5 | HG01109.hp2 HG02559.hp2 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.33+3712T>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51515487 | |||||||
| chr1:51515523 | C | G | 2 | a0002c0001t0009g0116 a0002c0001t0022g0115 |
2 | HG06807.hp1 NA19030.hp2 |
intron_variant | MODIFIER | c.33+3676G>C | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51515523 | |||||||
| chr1:51515883 | A | C | 1 | a0001c0002t0001g0026 | 1 | HG00639.hp2 | intron_variant | MODIFIER | c.33+3316T>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51515883 | |||||||
| chr1:51516026 | T | C | 5 | a0002c0001t0009g0116 a0002c0001t0009g0117 a0002c0001t0009g0118 others(2): Show |
5 | HG00735.hp2 HG03491.hp1 HG03492.hp2 others(2): Show |
intron_variant | MODIFIER | c.33+3173A>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51516026 | |||||||
| chr1:51516032 | T | C | 8 | a0002c0001t0004g0018 a0002c0001t0004g0019 a0002c0001t0004g0020 others(5): Show |
8 | HG00733.hp2 HG00735.hp1 HG01192.hp1 others(5): Show |
intron_variant | MODIFIER | c.33+3167A>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51516032 | |||||||
| chr1:51516089 | C | T | 9 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(6): Show |
9 | HG00642.hp1 HG01109.hp2 HG01257.hp2 others(6): Show |
intron_variant | MODIFIER | c.33+3110G>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51516089 | |||||||
| chr1:51516145 | T | A | 8 | a0002c0001t0004g0018 a0002c0001t0004g0019 a0002c0001t0004g0020 others(5): Show |
8 | HG00733.hp2 HG00735.hp1 HG01192.hp1 others(5): Show |
intron_variant | MODIFIER | c.33+3054A>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51516145 | |||||||
| chr1:51516285 | C | T | 7 | a0002c0001t0004g0018 a0002c0001t0004g0019 a0002c0001t0004g0020 others(4): Show |
7 | HG00733.hp2 HG00735.hp1 HG01192.hp1 others(4): Show |
intron_variant | MODIFIER | c.33+2914G>A | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51516285 | |||||||
| chr1:51516457 | GTT | G | 4 | a0002c0001t0008g0120 a0002c0001t0008g0121 a0002c0001t0008g0122 others(1): Show |
4 | HG00738.hp1 HG01516.hp1 HG01517.hp1 others(1): Show |
intron_variant | MODIFIER | c.33+2740_33+2741del others(2): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51516457 | |||||||
| chr1:51516461 | G | A | 4 | a0002c0001t0008g0120 a0002c0001t0008g0121 a0002c0001t0008g0122 others(1): Show |
4 | HG00738.hp1 HG01516.hp1 HG01517.hp1 others(1): Show |
intron_variant | MODIFIER | c.33+2738C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51516461 | |||||||
| chr1:51516464 | G | GGAAC | 4 | a0002c0001t0008g0120 a0002c0001t0008g0121 a0002c0001t0008g0122 others(1): Show |
4 | HG00738.hp1 HG01516.hp1 HG01517.hp1 others(1): Show |
intron_variant | MODIFIER | c.33+2734_33+2735ins others(4): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51516464 | |||||||
| chr1:51516547 | A | G | 8 | a0002c0001t0004g0018 a0002c0001t0004g0019 a0002c0001t0004g0020 others(5): Show |
8 | HG00733.hp2 HG00735.hp1 HG01192.hp1 others(5): Show |
intron_variant | MODIFIER | c.33+2652T>C | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51516547 | |||||||
| chr1:51516574 | G | C | 4 | a0002c0001t0008g0120 a0002c0001t0008g0121 a0002c0001t0008g0122 others(1): Show |
4 | HG00738.hp1 HG01516.hp1 HG01517.hp1 others(1): Show |
intron_variant | MODIFIER | c.33+2625C>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51516574 | |||||||
| chr1:51516599 | G | A | 5 | a0002c0001t0009g0116 a0002c0001t0009g0117 a0002c0001t0009g0118 others(2): Show |
5 | HG00735.hp2 HG03491.hp1 HG03492.hp2 others(2): Show |
intron_variant | MODIFIER | c.33+2600C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51516599 | |||||||
| chr1:51516747 | AATC | A | 9 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(6): Show |
9 | HG00642.hp1 HG01109.hp2 HG01257.hp2 others(6): Show |
intron_variant | MODIFIER | c.33+2449_33+2451del others(3): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51516747 | |||||||
| chr1:51517163 | G | C | 13 | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(10): Show |
13 | HG00642.hp1 HG00738.hp1 HG01109.hp2 others(10): Show |
intron_variant | MODIFIER | c.33+2036C>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51517163 | |||||||
| chr1:51517612 | C | G | 1 | a0003c0005t0001g0017 | 1 | NA20752.hp2 | intron_variant | MODIFIER | c.33+1587G>C | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51517612 | |||||||
| chr1:51517735 | C | CTTCCCCA others(6): Show |
16 | a0001c0002t0001g0126 a0001c0002t0001g0127 a0001c0002t0001g0128 others(13): Show |
16 | HG00438.hp1 HG00642.hp1 HG00738.hp1 others(13): Show |
intron_variant | MODIFIER | c.33+1463_33+1464ins others(13): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51517735 | |||||||
| chr1:51517787 | T | C | 15 | a0002c0001t0004g0124 a0002c0004t0002g0004 a0002c0004t0002g0005 others(12): Show |
15 | HG01167.hp2 HG01346.hp1 HG01891.hp1 others(12): Show |
intron_variant | MODIFIER | c.33+1412A>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51517787 | |||||||
| chr1:51517794 | T | C | 12 | a0001c0002t0001g0126 a0001c0002t0001g0127 a0001c0002t0001g0128 others(9): Show |
12 | HG00438.hp1 HG00642.hp1 HG01109.hp2 others(9): Show |
intron_variant | MODIFIER | c.33+1405A>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51517794 | |||||||
| chr1:51518544 | G | A | 1 | a0009c0009t0015g0125 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.33+655C>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51518544 | |||||||
| chr1:51518576 | T | C | 1 | a0002c0004t0002g0137 | 1 | HG03654.hp1 | intron_variant | MODIFIER | c.33+623A>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51518576 | |||||||
| chr1:51518804 | G | GCT | 14 | a0002c0004t0002g0004 a0002c0004t0002g0005 a0002c0004t0002g0006 others(11): Show |
14 | HG01167.hp2 HG01346.hp1 HG01891.hp1 others(11): Show |
intron_variant | MODIFIER | c.33+393_33+394dupAG | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51518804 | |||||||
| chr1:51518880 | G | C | 12 | a0001c0002t0001g0126 a0001c0002t0001g0127 a0001c0002t0001g0128 others(9): Show |
12 | HG00438.hp1 HG00642.hp1 HG01109.hp2 others(9): Show |
intron_variant | MODIFIER | c.33+319C>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51518880 | |||||||
| chr1:51519072 | C | A | 1 | a0002c0004t0002g0137 | 1 | HG03654.hp1 | intron_variant | MODIFIER | c.33+127G>T | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51519072 | |||||||
| chr1:51519087 | CA | C | 3 | a0002c0001t0012g0001 a0002c0001t0012g0002 a0002c0001t0012g0003 |
3 | HG02257.hp1 HG03139.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.33+111delT | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51519087 | |||||||
| chr1:51519135 | G | C | 14 | a0002c0001t0005g0139 a0002c0001t0005g0140 a0002c0001t0005g0142 others(11): Show |
14 | HG01109.hp1 HG01175.hp1 HG01884.hp2 others(11): Show |
intron_variant | MODIFIER | c.33+64C>G | EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | 51519135 |