Search by Genic region
Multiple Alignments (by aa haplotype frequency)
Multiple Alignments (by aa haplotype similarity)
| Item | Value |
|---|---|
| geneid | 2059 |
| ensemblid | ENSG00000151491.14 |
| hgncid | 3420 |
| symbol | EPS8 |
| name | epidermal growth factor receptor pathway substrate 8 |
| refseq_nuc | NM_004447.6 |
| refseq_prot | NP_004438.3 |
| ensembl_nuc | ENST00000281172.10 |
| ensembl_prot | ENSP00000281172.5 |
| mane_status | MANE Select |
| chr | chr12 |
| start | 15620134 |
| end | 15789388 |
| strand | - |
| ver | v1.2 |
| region | chr12:15620134-15789388 |
| region5000 | chr12:15615134-15794388 |
| regionname0 | EPS8_chr12_15620134_15789388 |
| regionname5000 | EPS8_chr12_15615134_15794388 |
| ahapid | grch38/chm13v2 | alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001 | 1/1 | 822 | 95 | 58 | 15 | 16 | 0 | 4 | 11 | EPS8_chr12_15615134_15794388 | EPS8 | MNGHI others(817): Show |
chr12 | 15615134 | 15794388 |
| a0002 | 0/0 | 822 | 4 | 2 | 0 | 2 | 0 | 0 | 1 | EPS8_chr12_15615134_15794388 | EPS8 | MNGHI others(817): Show |
chr12 | 15615134 | 15794388 |
| a0003 | 0/0 | 822 | 2 | 0 | 0 | 2 | 0 | 0 | 0 | EPS8_chr12_15615134_15794388 | EPS8 | MNGHI others(817): Show |
chr12 | 15615134 | 15794388 |
| a0004 | 0/0 | 822 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | EPS8_chr12_15615134_15794388 | EPS8 | MNGHI others(817): Show |
chr12 | 15615134 | 15794388 |
| achapid | grch38/chm13v2 | alen | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | aseq | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001 | 1/1 | 2466 | 51 | 20 | 12 | 14 | 0 | 3 | EPS8_chr12_15615134_15794388 | EPS8 | ATGAA others(2461): Show |
chr12 | 15615134 | 15794388 | ||
| a0001c0002 | 0/0 | 2466 | 34 | 29 | 3 | 2 | 0 | 0 | EPS8_chr12_15615134_15794388 | EPS8 | ATGAA others(2461): Show |
chr12 | 15615134 | 15794388 | ||
| a0001c0003 | 0/0 | 2466 | 5 | 5 | 0 | 0 | 0 | 0 | EPS8_chr12_15615134_15794388 | EPS8 | ATGAA others(2461): Show |
chr12 | 15615134 | 15794388 | ||
| a0001c0005 | 0/0 | 2466 | 2 | 2 | 0 | 0 | 0 | 0 | EPS8_chr12_15615134_15794388 | EPS8 | ATGAA others(2461): Show |
chr12 | 15615134 | 15794388 | ||
| a0001c0007 | 0/0 | 2466 | 1 | 1 | 0 | 0 | 0 | 0 | EPS8_chr12_15615134_15794388 | EPS8 | ATGAA others(2461): Show |
chr12 | 15615134 | 15794388 | ||
| a0001c0009 | 0/0 | 2466 | 1 | 0 | 0 | 0 | 0 | 1 | EPS8_chr12_15615134_15794388 | EPS8 | ATGAA others(2461): Show |
chr12 | 15615134 | 15794388 | ||
| a0001c0010 | 0/0 | 2466 | 1 | 1 | 0 | 0 | 0 | 0 | EPS8_chr12_15615134_15794388 | EPS8 | ATGAA others(2461): Show |
chr12 | 15615134 | 15794388 | ||
| a0002c0004 | 0/0 | 2466 | 4 | 2 | 0 | 2 | 0 | 0 | EPS8_chr12_15615134_15794388 | EPS8 | ATGAA others(2461): Show |
chr12 | 15615134 | 15794388 | ||
| a0003c0006 | 0/0 | 2466 | 2 | 0 | 0 | 2 | 0 | 0 | EPS8_chr12_15615134_15794388 | EPS8 | ATGAA others(2461): Show |
chr12 | 15615134 | 15794388 | ||
| a0004c0008 | 0/0 | 2466 | 1 | 0 | 1 | 0 | 0 | 0 | EPS8_chr12_15615134_15794388 | EPS8 | ATGAA others(2461): Show |
chr12 | 15615134 | 15794388 |
| acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001 | 0/0 | 3902 | 40 | 13 | 11 | 13 | 0 | 3 | EPS8_chr12_15615134_15794388 | EPS8 | AGACT others(3897): Show |
chr12 | 15615134 | 15794388 |
| a0001c0001t0002 | 0/0 | 3902 | 5 | 5 | 0 | 0 | 0 | 0 | EPS8_chr12_15615134_15794388 | EPS8 | AGACT others(3897): Show |
chr12 | 15615134 | 15794388 |
| a0001c0001t0003 | 0/0 | 3902 | 1 | 1 | 0 | 0 | 0 | 0 | EPS8_chr12_15615134_15794388 | EPS8 | AGACT others(3897): Show |
chr12 | 15615134 | 15794388 |
| a0001c0001t0007 | 0/1 | 3902 | 2 | 0 | 1 | 0 | 0 | 0 | EPS8_chr12_15615134_15794388 | EPS8 | AGACT others(3897): Show |
chr12 | 15615134 | 15794388 |
| a0001c0001t0009 | 0/0 | 3902 | 1 | 1 | 0 | 0 | 0 | 0 | EPS8_chr12_15615134_15794388 | EPS8 | AGACT others(3897): Show |
chr12 | 15615134 | 15794388 |
| a0001c0001t0010 | 0/0 | 3901 | 1 | 0 | 0 | 1 | 0 | 0 | EPS8_chr12_15615134_15794388 | EPS8 | AGACT others(3896): Show |
chr12 | 15615134 | 15794388 |
| a0001c0001t0011 | 1/0 | 3901 | 1 | 0 | 0 | 0 | 0 | 0 | EPS8_chr12_15615134_15794388 | EPS8 | AGACT others(3896): Show |
chr12 | 15615134 | 15794388 |
| a0001c0002t0001 | 0/0 | 3902 | 28 | 25 | 1 | 2 | 0 | 0 | EPS8_chr12_15615134_15794388 | EPS8 | AGACT others(3897): Show |
chr12 | 15615134 | 15794388 |
| a0001c0002t0003 | 0/0 | 3902 | 3 | 2 | 1 | 0 | 0 | 0 | EPS8_chr12_15615134_15794388 | EPS8 | AGACT others(3897): Show |
chr12 | 15615134 | 15794388 |
| a0001c0002t0005 | 0/0 | 3902 | 1 | 1 | 0 | 0 | 0 | 0 | EPS8_chr12_15615134_15794388 | EPS8 | AGACT others(3897): Show |
chr12 | 15615134 | 15794388 |
| a0001c0002t0008 | 0/0 | 3902 | 2 | 1 | 1 | 0 | 0 | 0 | EPS8_chr12_15615134_15794388 | EPS8 | AGACT others(3897): Show |
chr12 | 15615134 | 15794388 |
| a0001c0003t0004 | 0/0 | 3902 | 3 | 3 | 0 | 0 | 0 | 0 | EPS8_chr12_15615134_15794388 | EPS8 | AGACT others(3897): Show |
chr12 | 15615134 | 15794388 |
| a0001c0003t0006 | 0/0 | 3902 | 2 | 2 | 0 | 0 | 0 | 0 | EPS8_chr12_15615134_15794388 | EPS8 | AGACT others(3897): Show |
chr12 | 15615134 | 15794388 |
| a0001c0005t0005 | 0/0 | 3902 | 2 | 2 | 0 | 0 | 0 | 0 | EPS8_chr12_15615134_15794388 | EPS8 | AGACT others(3897): Show |
chr12 | 15615134 | 15794388 |
| a0001c0007t0012 | 0/0 | 3901 | 1 | 1 | 0 | 0 | 0 | 0 | EPS8_chr12_15615134_15794388 | EPS8 | AGACT others(3896): Show |
chr12 | 15615134 | 15794388 |
| a0001c0009t0001 | 0/0 | 3902 | 1 | 0 | 0 | 0 | 0 | 1 | EPS8_chr12_15615134_15794388 | EPS8 | AGACT others(3897): Show |
chr12 | 15615134 | 15794388 |
| a0001c0010t0004 | 0/0 | 3902 | 1 | 1 | 0 | 0 | 0 | 0 | EPS8_chr12_15615134_15794388 | EPS8 | AGACT others(3897): Show |
chr12 | 15615134 | 15794388 |
| a0002c0004t0001 | 0/0 | 3902 | 4 | 2 | 0 | 2 | 0 | 0 | EPS8_chr12_15615134_15794388 | EPS8 | AGACT others(3897): Show |
chr12 | 15615134 | 15794388 |
| a0003c0006t0001 | 0/0 | 3902 | 2 | 0 | 0 | 2 | 0 | 0 | EPS8_chr12_15615134_15794388 | EPS8 | AGACT others(3897): Show |
chr12 | 15615134 | 15794388 |
| a0004c0008t0001 | 0/0 | 3902 | 1 | 0 | 1 | 0 | 0 | 0 | EPS8_chr12_15615134_15794388 | EPS8 | AGACT others(3897): Show |
chr12 | 15615134 | 15794388 |
| actghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001g0005 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPS8_chr12_15615134_15794388 | EPS8 | chr12 | 15615134 | 15794388 |
| a0001c0001t0001g0011 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS8_chr12_15615134_15794388 | EPS8 | chr12 | 15615134 | 15794388 |
| a0001c0001t0001g0016 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPS8_chr12_15615134_15794388 | EPS8 | chr12 | 15615134 | 15794388 |
| a0001c0001t0001g0017 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS8_chr12_15615134_15794388 | EPS8 | chr12 | 15615134 | 15794388 |
| a0001c0001t0001g0018 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS8_chr12_15615134_15794388 | EPS8 | chr12 | 15615134 | 15794388 |
| a0001c0001t0001g0019 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS8_chr12_15615134_15794388 | EPS8 | chr12 | 15615134 | 15794388 |
| a0001c0001t0001g0020 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPS8_chr12_15615134_15794388 | EPS8 | chr12 | 15615134 | 15794388 |
| a0001c0001t0001g0021 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPS8_chr12_15615134_15794388 | EPS8 | chr12 | 15615134 | 15794388 |
| a0001c0001t0001g0024 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPS8_chr12_15615134_15794388 | EPS8 | chr12 | 15615134 | 15794388 |
| a0001c0001t0001g0025 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPS8_chr12_15615134_15794388 | EPS8 | chr12 | 15615134 | 15794388 |
| a0001c0001t0001g0027 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS8_chr12_15615134_15794388 | EPS8 | chr12 | 15615134 | 15794388 |
| a0001c0001t0001g0029 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPS8_chr12_15615134_15794388 | EPS8 | chr12 | 15615134 | 15794388 |
| a0001c0001t0001g0036 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS8_chr12_15615134_15794388 | EPS8 | chr12 | 15615134 | 15794388 |
| a0001c0001t0001g0038 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS8_chr12_15615134_15794388 | EPS8 | chr12 | 15615134 | 15794388 |
| a0001c0001t0001g0041 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPS8_chr12_15615134_15794388 | EPS8 | chr12 | 15615134 | 15794388 |
| a0001c0001t0001g0042 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPS8_chr12_15615134_15794388 | EPS8 | chr12 | 15615134 | 15794388 |
| a0001c0001t0001g0045 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPS8_chr12_15615134_15794388 | EPS8 | chr12 | 15615134 | 15794388 |
| a0001c0001t0001g0052 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS8_chr12_15615134_15794388 | EPS8 | chr12 | 15615134 | 15794388 |
| a0001c0001t0001g0056 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPS8_chr12_15615134_15794388 | EPS8 | chr12 | 15615134 | 15794388 |
| a0001c0001t0001g0059 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS8_chr12_15615134_15794388 | EPS8 | chr12 | 15615134 | 15794388 |
| a0001c0001t0001g0060 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPS8_chr12_15615134_15794388 | EPS8 | chr12 | 15615134 | 15794388 |
| a0001c0001t0001g0064 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPS8_chr12_15615134_15794388 | EPS8 | chr12 | 15615134 | 15794388 |
| a0001c0001t0001g0067 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS8_chr12_15615134_15794388 | EPS8 | chr12 | 15615134 | 15794388 |
| a0001c0001t0001g0068 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS8_chr12_15615134_15794388 | EPS8 | chr12 | 15615134 | 15794388 |
| a0001c0001t0001g0082 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPS8_chr12_15615134_15794388 | EPS8 | chr12 | 15615134 | 15794388 |
| a0001c0001t0001g0083 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPS8_chr12_15615134_15794388 | EPS8 | chr12 | 15615134 | 15794388 |
| a0001c0001t0001g0085 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS8_chr12_15615134_15794388 | EPS8 | chr12 | 15615134 | 15794388 |
| a0001c0001t0001g0086 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPS8_chr12_15615134_15794388 | EPS8 | chr12 | 15615134 | 15794388 |
| a0001c0001t0001g0087 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS8_chr12_15615134_15794388 | EPS8 | chr12 | 15615134 | 15794388 |
| a0001c0001t0001g0090 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPS8_chr12_15615134_15794388 | EPS8 | chr12 | 15615134 | 15794388 |
| a0001c0001t0001g0091 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPS8_chr12_15615134_15794388 | EPS8 | chr12 | 15615134 | 15794388 |
| a0001c0001t0001g0093 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPS8_chr12_15615134_15794388 | EPS8 | chr12 | 15615134 | 15794388 |
| a0001c0001t0001g0094 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPS8_chr12_15615134_15794388 | EPS8 | chr12 | 15615134 | 15794388 |
| a0001c0001t0001g0095 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPS8_chr12_15615134_15794388 | EPS8 | chr12 | 15615134 | 15794388 |
| a0001c0001t0001g0096 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPS8_chr12_15615134_15794388 | EPS8 | chr12 | 15615134 | 15794388 |
| a0001c0001t0001g0097 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPS8_chr12_15615134_15794388 | EPS8 | chr12 | 15615134 | 15794388 |
| a0001c0001t0001g0099 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPS8_chr12_15615134_15794388 | EPS8 | chr12 | 15615134 | 15794388 |
| a0001c0001t0001g0100 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPS8_chr12_15615134_15794388 | EPS8 | chr12 | 15615134 | 15794388 |
| a0001c0001t0001g0101 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPS8_chr12_15615134_15794388 | EPS8 | chr12 | 15615134 | 15794388 |
| a0001c0001t0001g0102 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPS8_chr12_15615134_15794388 | EPS8 | chr12 | 15615134 | 15794388 |
| a0001c0001t0002g0009 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS8_chr12_15615134_15794388 | EPS8 | chr12 | 15615134 | 15794388 |
| a0001c0001t0002g0012 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS8_chr12_15615134_15794388 | EPS8 | chr12 | 15615134 | 15794388 |
| a0001c0001t0002g0013 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS8_chr12_15615134_15794388 | EPS8 | chr12 | 15615134 | 15794388 |
| a0001c0001t0002g0022 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS8_chr12_15615134_15794388 | EPS8 | chr12 | 15615134 | 15794388 |
| a0001c0001t0002g0026 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS8_chr12_15615134_15794388 | EPS8 | chr12 | 15615134 | 15794388 |
| a0001c0001t0003g0004 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS8_chr12_15615134_15794388 | EPS8 | chr12 | 15615134 | 15794388 |
| a0001c0001t0007g0084 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPS8_chr12_15615134_15794388 | EPS8 | chr12 | 15615134 | 15794388 |
| a0001c0001t0007g0089 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | EPS8_chr12_15615134_15794388 | EPS8 | chr12 | 15615134 | 15794388 |
| a0001c0001t0009g0058 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS8_chr12_15615134_15794388 | EPS8 | chr12 | 15615134 | 15794388 |
| a0001c0001t0010g0049 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPS8_chr12_15615134_15794388 | EPS8 | chr12 | 15615134 | 15794388 |
| a0001c0001t0011g0057 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | EPS8_chr12_15615134_15794388 | EPS8 | chr12 | 15615134 | 15794388 |
| a0001c0002t0001g0006 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS8_chr12_15615134_15794388 | EPS8 | chr12 | 15615134 | 15794388 |
| a0001c0002t0001g0008 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPS8_chr12_15615134_15794388 | EPS8 | chr12 | 15615134 | 15794388 |
| a0001c0002t0001g0010 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS8_chr12_15615134_15794388 | EPS8 | chr12 | 15615134 | 15794388 |
| a0001c0002t0001g0032 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS8_chr12_15615134_15794388 | EPS8 | chr12 | 15615134 | 15794388 |
| a0001c0002t0001g0034 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS8_chr12_15615134_15794388 | EPS8 | chr12 | 15615134 | 15794388 |
| a0001c0002t0001g0035 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS8_chr12_15615134_15794388 | EPS8 | chr12 | 15615134 | 15794388 |
| a0001c0002t0001g0037 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS8_chr12_15615134_15794388 | EPS8 | chr12 | 15615134 | 15794388 |
| a0001c0002t0001g0040 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS8_chr12_15615134_15794388 | EPS8 | chr12 | 15615134 | 15794388 |
| a0001c0002t0001g0047 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPS8_chr12_15615134_15794388 | EPS8 | chr12 | 15615134 | 15794388 |
| a0001c0002t0001g0048 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS8_chr12_15615134_15794388 | EPS8 | chr12 | 15615134 | 15794388 |
| a0001c0002t0001g0050 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS8_chr12_15615134_15794388 | EPS8 | chr12 | 15615134 | 15794388 |
| a0001c0002t0001g0053 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS8_chr12_15615134_15794388 | EPS8 | chr12 | 15615134 | 15794388 |
| a0001c0002t0001g0054 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS8_chr12_15615134_15794388 | EPS8 | chr12 | 15615134 | 15794388 |
| a0001c0002t0001g0055 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS8_chr12_15615134_15794388 | EPS8 | chr12 | 15615134 | 15794388 |
| a0001c0002t0001g0061 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS8_chr12_15615134_15794388 | EPS8 | chr12 | 15615134 | 15794388 |
| a0001c0002t0001g0063 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS8_chr12_15615134_15794388 | EPS8 | chr12 | 15615134 | 15794388 |
| a0001c0002t0001g0065 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPS8_chr12_15615134_15794388 | EPS8 | chr12 | 15615134 | 15794388 |
| a0001c0002t0001g0069 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS8_chr12_15615134_15794388 | EPS8 | chr12 | 15615134 | 15794388 |
| a0001c0002t0001g0070 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS8_chr12_15615134_15794388 | EPS8 | chr12 | 15615134 | 15794388 |
| a0001c0002t0001g0071 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS8_chr12_15615134_15794388 | EPS8 | chr12 | 15615134 | 15794388 |
| a0001c0002t0001g0072 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS8_chr12_15615134_15794388 | EPS8 | chr12 | 15615134 | 15794388 |
| a0001c0002t0001g0073 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS8_chr12_15615134_15794388 | EPS8 | chr12 | 15615134 | 15794388 |
| a0001c0002t0001g0074 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS8_chr12_15615134_15794388 | EPS8 | chr12 | 15615134 | 15794388 |
| a0001c0002t0001g0075 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS8_chr12_15615134_15794388 | EPS8 | chr12 | 15615134 | 15794388 |
| a0001c0002t0001g0076 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS8_chr12_15615134_15794388 | EPS8 | chr12 | 15615134 | 15794388 |
| a0001c0002t0001g0077 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS8_chr12_15615134_15794388 | EPS8 | chr12 | 15615134 | 15794388 |
| a0001c0002t0001g0078 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS8_chr12_15615134_15794388 | EPS8 | chr12 | 15615134 | 15794388 |
| a0001c0002t0001g0080 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS8_chr12_15615134_15794388 | EPS8 | chr12 | 15615134 | 15794388 |
| a0001c0002t0003g0001 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPS8_chr12_15615134_15794388 | EPS8 | chr12 | 15615134 | 15794388 |
| a0001c0002t0003g0002 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS8_chr12_15615134_15794388 | EPS8 | chr12 | 15615134 | 15794388 |
| a0001c0002t0003g0003 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS8_chr12_15615134_15794388 | EPS8 | chr12 | 15615134 | 15794388 |
| a0001c0002t0005g0014 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS8_chr12_15615134_15794388 | EPS8 | chr12 | 15615134 | 15794388 |
| a0001c0002t0008g0023 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS8_chr12_15615134_15794388 | EPS8 | chr12 | 15615134 | 15794388 |
| a0001c0002t0008g0051 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPS8_chr12_15615134_15794388 | EPS8 | chr12 | 15615134 | 15794388 |
| a0001c0003t0004g0030 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS8_chr12_15615134_15794388 | EPS8 | chr12 | 15615134 | 15794388 |
| a0001c0003t0004g0031 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS8_chr12_15615134_15794388 | EPS8 | chr12 | 15615134 | 15794388 |
| a0001c0003t0004g0039 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS8_chr12_15615134_15794388 | EPS8 | chr12 | 15615134 | 15794388 |
| a0001c0003t0006g0044 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS8_chr12_15615134_15794388 | EPS8 | chr12 | 15615134 | 15794388 |
| a0001c0003t0006g0066 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS8_chr12_15615134_15794388 | EPS8 | chr12 | 15615134 | 15794388 |
| a0001c0005t0005g0033 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS8_chr12_15615134_15794388 | EPS8 | chr12 | 15615134 | 15794388 |
| a0001c0005t0005g0043 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS8_chr12_15615134_15794388 | EPS8 | chr12 | 15615134 | 15794388 |
| a0001c0007t0012g0015 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS8_chr12_15615134_15794388 | EPS8 | chr12 | 15615134 | 15794388 |
| a0001c0009t0001g0088 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPS8_chr12_15615134_15794388 | EPS8 | chr12 | 15615134 | 15794388 |
| a0001c0010t0004g0007 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS8_chr12_15615134_15794388 | EPS8 | chr12 | 15615134 | 15794388 |
| a0002c0004t0001g0062 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS8_chr12_15615134_15794388 | EPS8 | chr12 | 15615134 | 15794388 |
| a0002c0004t0001g0079 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS8_chr12_15615134_15794388 | EPS8 | chr12 | 15615134 | 15794388 |
| a0002c0004t0001g0081 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPS8_chr12_15615134_15794388 | EPS8 | chr12 | 15615134 | 15794388 |
| a0002c0004t0001g0098 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPS8_chr12_15615134_15794388 | EPS8 | chr12 | 15615134 | 15794388 |
| a0003c0006t0001g0046 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPS8_chr12_15615134_15794388 | EPS8 | chr12 | 15615134 | 15794388 |
| a0003c0006t0001g0092 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPS8_chr12_15615134_15794388 | EPS8 | chr12 | 15615134 | 15794388 |
| a0004c0008t0001g0028 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPS8_chr12_15615134_15794388 | EPS8 | chr12 | 15615134 | 15794388 |
| sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| HG00597 | hp1 | a0001 | c0001 | t0001 | g0091 | EAS | CHS | EPS8_chr12_15615134_15794388 | EPS8 | chr12 | 15615134 | 15794388 |
| HG00597 | hp2 | a0001 | c0001 | t0001 | g0025 | EAS | CHS | EPS8_chr12_15615134_15794388 | EPS8 | chr12 | 15615134 | 15794388 |
| HG00621 | hp1 | a0003 | c0006 | t0001 | g0092 | EAS | CHS | EPS8_chr12_15615134_15794388 | EPS8 | chr12 | 15615134 | 15794388 |
| HG00621 | hp2 | a0003 | c0006 | t0001 | g0046 | EAS | CHS | EPS8_chr12_15615134_15794388 | EPS8 | chr12 | 15615134 | 15794388 |
| HG00733 | hp1 | a0001 | c0002 | t0008 | g0051 | AMR | PUR | EPS8_chr12_15615134_15794388 | EPS8 | chr12 | 15615134 | 15794388 |
| HG00733 | hp2 | a0001 | c0001 | t0001 | g0024 | AMR | PUR | EPS8_chr12_15615134_15794388 | EPS8 | chr12 | 15615134 | 15794388 |
| HG00738 | hp1 | a0004 | c0008 | t0001 | g0028 | AMR | PUR | EPS8_chr12_15615134_15794388 | EPS8 | chr12 | 15615134 | 15794388 |
| HG00738 | hp2 | a0001 | c0001 | t0001 | g0090 | AMR | PUR | EPS8_chr12_15615134_15794388 | EPS8 | chr12 | 15615134 | 15794388 |
| HG01071 | hp1 | a0001 | c0001 | t0001 | g0029 | AMR | PUR | EPS8_chr12_15615134_15794388 | EPS8 | chr12 | 15615134 | 15794388 |
| HG01071 | hp2 | a0001 | c0001 | t0001 | g0064 | AMR | PUR | EPS8_chr12_15615134_15794388 | EPS8 | chr12 | 15615134 | 15794388 |
| HG01109 | hp1 | a0001 | c0002 | t0003 | g0001 | AMR | PUR | EPS8_chr12_15615134_15794388 | EPS8 | chr12 | 15615134 | 15794388 |
| HG01109 | hp2 | a0001 | c0002 | t0001 | g0008 | AMR | PUR | EPS8_chr12_15615134_15794388 | EPS8 | chr12 | 15615134 | 15794388 |
| HG01243 | hp1 | a0001 | c0001 | t0007 | g0084 | AMR | PUR | EPS8_chr12_15615134_15794388 | EPS8 | chr12 | 15615134 | 15794388 |
| HG01243 | hp2 | a0001 | c0001 | t0001 | g0016 | AMR | PUR | EPS8_chr12_15615134_15794388 | EPS8 | chr12 | 15615134 | 15794388 |
| HG01256 | hp1 | a0001 | c0001 | t0001 | g0096 | AMR | CLM | EPS8_chr12_15615134_15794388 | EPS8 | chr12 | 15615134 | 15794388 |
| HG01256 | hp2 | a0001 | c0001 | t0001 | g0021 | AMR | CLM | EPS8_chr12_15615134_15794388 | EPS8 | chr12 | 15615134 | 15794388 |
| HG01261 | hp1 | a0001 | c0001 | t0001 | g0097 | AMR | CLM | EPS8_chr12_15615134_15794388 | EPS8 | chr12 | 15615134 | 15794388 |
| HG01261 | hp2 | a0001 | c0001 | t0001 | g0020 | AMR | CLM | EPS8_chr12_15615134_15794388 | EPS8 | chr12 | 15615134 | 15794388 |
| HG01884 | hp1 | a0001 | c0001 | t0002 | g0022 | AFR | ACB | EPS8_chr12_15615134_15794388 | EPS8 | chr12 | 15615134 | 15794388 |
| HG01884 | hp2 | a0001 | c0002 | t0001 | g0053 | AFR | ACB | EPS8_chr12_15615134_15794388 | EPS8 | chr12 | 15615134 | 15794388 |
| HG01891 | hp1 | a0001 | c0001 | t0002 | g0009 | AFR | ACB | EPS8_chr12_15615134_15794388 | EPS8 | chr12 | 15615134 | 15794388 |
| HG01891 | hp2 | a0001 | c0001 | t0001 | g0027 | AFR | ACB | EPS8_chr12_15615134_15794388 | EPS8 | chr12 | 15615134 | 15794388 |
| HG02055 | hp1 | a0001 | c0002 | t0003 | g0003 | AFR | ACB | EPS8_chr12_15615134_15794388 | EPS8 | chr12 | 15615134 | 15794388 |
| HG02055 | hp2 | a0001 | c0002 | t0001 | g0073 | AFR | ACB | EPS8_chr12_15615134_15794388 | EPS8 | chr12 | 15615134 | 15794388 |
| HG02132 | hp1 | a0001 | c0001 | t0001 | g0056 | EAS | KHV | EPS8_chr12_15615134_15794388 | EPS8 | chr12 | 15615134 | 15794388 |
| HG02132 | hp2 | a0001 | c0001 | t0001 | g0100 | EAS | KHV | EPS8_chr12_15615134_15794388 | EPS8 | chr12 | 15615134 | 15794388 |
| HG02145 | hp1 | a0001 | c0002 | t0001 | g0070 | AFR | ACB | EPS8_chr12_15615134_15794388 | EPS8 | chr12 | 15615134 | 15794388 |
| HG02145 | hp2 | a0001 | c0001 | t0001 | g0038 | AFR | ACB | EPS8_chr12_15615134_15794388 | EPS8 | chr12 | 15615134 | 15794388 |
| HG02258 | hp1 | a0001 | c0001 | t0002 | g0026 | AFR | ACB | EPS8_chr12_15615134_15794388 | EPS8 | chr12 | 15615134 | 15794388 |
| HG02258 | hp2 | a0001 | c0001 | t0009 | g0058 | AFR | ACB | EPS8_chr12_15615134_15794388 | EPS8 | chr12 | 15615134 | 15794388 |
| HG02300 | hp1 | a0001 | c0001 | t0001 | g0086 | AMR | PEL | EPS8_chr12_15615134_15794388 | EPS8 | chr12 | 15615134 | 15794388 |
| HG02300 | hp2 | a0001 | c0001 | t0001 | g0060 | AMR | PEL | EPS8_chr12_15615134_15794388 | EPS8 | chr12 | 15615134 | 15794388 |
| HG02451 | hp1 | a0001 | c0005 | t0005 | g0033 | AFR | ACB | EPS8_chr12_15615134_15794388 | EPS8 | chr12 | 15615134 | 15794388 |
| HG02451 | hp2 | a0001 | c0002 | t0001 | g0035 | AFR | ACB | EPS8_chr12_15615134_15794388 | EPS8 | chr12 | 15615134 | 15794388 |
| HG02523 | hp1 | a0002 | c0004 | t0001 | g0098 | EAS | KHV | EPS8_chr12_15615134_15794388 | EPS8 | chr12 | 15615134 | 15794388 |
| HG02523 | hp2 | a0001 | c0001 | t0001 | g0093 | EAS | KHV | EPS8_chr12_15615134_15794388 | EPS8 | chr12 | 15615134 | 15794388 |
| HG02622 | hp1 | a0001 | c0001 | t0001 | g0019 | AFR | GWD | EPS8_chr12_15615134_15794388 | EPS8 | chr12 | 15615134 | 15794388 |
| HG02622 | hp2 | a0001 | c0003 | t0004 | g0030 | AFR | GWD | EPS8_chr12_15615134_15794388 | EPS8 | chr12 | 15615134 | 15794388 |
| HG02630 | hp1 | a0001 | c0005 | t0005 | g0043 | AFR | GWD | EPS8_chr12_15615134_15794388 | EPS8 | chr12 | 15615134 | 15794388 |
| HG02630 | hp2 | a0002 | c0004 | t0001 | g0079 | AFR | GWD | EPS8_chr12_15615134_15794388 | EPS8 | chr12 | 15615134 | 15794388 |
| HG02717 | hp1 | a0001 | c0002 | t0001 | g0078 | AFR | GWD | EPS8_chr12_15615134_15794388 | EPS8 | chr12 | 15615134 | 15794388 |
| HG02717 | hp2 | a0001 | c0001 | t0001 | g0018 | AFR | GWD | EPS8_chr12_15615134_15794388 | EPS8 | chr12 | 15615134 | 15794388 |
| HG02818 | hp1 | a0001 | c0007 | t0012 | g0015 | AFR | GWD | EPS8_chr12_15615134_15794388 | EPS8 | chr12 | 15615134 | 15794388 |
| HG02818 | hp2 | a0001 | c0002 | t0001 | g0055 | AFR | GWD | EPS8_chr12_15615134_15794388 | EPS8 | chr12 | 15615134 | 15794388 |
| HG02886 | hp1 | a0001 | c0001 | t0002 | g0013 | AFR | GWD | EPS8_chr12_15615134_15794388 | EPS8 | chr12 | 15615134 | 15794388 |
| HG02886 | hp2 | a0001 | c0002 | t0001 | g0063 | AFR | GWD | EPS8_chr12_15615134_15794388 | EPS8 | chr12 | 15615134 | 15794388 |
| HG02922 | hp1 | a0001 | c0002 | t0001 | g0006 | AFR | ESN | EPS8_chr12_15615134_15794388 | EPS8 | chr12 | 15615134 | 15794388 |
| HG02922 | hp2 | a0001 | c0002 | t0001 | g0061 | AFR | ESN | EPS8_chr12_15615134_15794388 | EPS8 | chr12 | 15615134 | 15794388 |
| HG02965 | hp1 | a0001 | c0001 | t0001 | g0036 | AFR | ESN | EPS8_chr12_15615134_15794388 | EPS8 | chr12 | 15615134 | 15794388 |
| HG02965 | hp2 | a0001 | c0002 | t0001 | g0071 | AFR | ESN | EPS8_chr12_15615134_15794388 | EPS8 | chr12 | 15615134 | 15794388 |
| HG02976 | hp1 | a0001 | c0002 | t0001 | g0050 | AFR | ESN | EPS8_chr12_15615134_15794388 | EPS8 | chr12 | 15615134 | 15794388 |
| HG02976 | hp2 | a0001 | c0002 | t0001 | g0040 | AFR | ESN | EPS8_chr12_15615134_15794388 | EPS8 | chr12 | 15615134 | 15794388 |
| HG03017 | hp1 | a0001 | c0009 | t0001 | g0088 | SAS | PJL | EPS8_chr12_15615134_15794388 | EPS8 | chr12 | 15615134 | 15794388 |
| HG03017 | hp2 | a0001 | c0001 | t0001 | g0082 | SAS | PJL | EPS8_chr12_15615134_15794388 | EPS8 | chr12 | 15615134 | 15794388 |
| HG03041 | hp1 | a0001 | c0002 | t0008 | g0023 | AFR | GWD | EPS8_chr12_15615134_15794388 | EPS8 | chr12 | 15615134 | 15794388 |
| HG03041 | hp2 | a0002 | c0004 | t0001 | g0062 | AFR | GWD | EPS8_chr12_15615134_15794388 | EPS8 | chr12 | 15615134 | 15794388 |
| HG03098 | hp1 | a0001 | c0001 | t0002 | g0012 | AFR | MSL | EPS8_chr12_15615134_15794388 | EPS8 | chr12 | 15615134 | 15794388 |
| HG03098 | hp2 | a0001 | c0002 | t0001 | g0080 | AFR | MSL | EPS8_chr12_15615134_15794388 | EPS8 | chr12 | 15615134 | 15794388 |
| HG03130 | hp1 | a0001 | c0002 | t0001 | g0010 | AFR | ESN | EPS8_chr12_15615134_15794388 | EPS8 | chr12 | 15615134 | 15794388 |
| HG03130 | hp2 | a0001 | c0003 | t0004 | g0031 | AFR | ESN | EPS8_chr12_15615134_15794388 | EPS8 | chr12 | 15615134 | 15794388 |
| HG03139 | hp1 | a0001 | c0002 | t0005 | g0014 | AFR | ESN | EPS8_chr12_15615134_15794388 | EPS8 | chr12 | 15615134 | 15794388 |
| HG03139 | hp2 | a0001 | c0002 | t0001 | g0074 | AFR | ESN | EPS8_chr12_15615134_15794388 | EPS8 | chr12 | 15615134 | 15794388 |
| HG03486 | hp1 | a0001 | c0002 | t0001 | g0032 | AFR | MSL | EPS8_chr12_15615134_15794388 | EPS8 | chr12 | 15615134 | 15794388 |
| HG03486 | hp2 | a0001 | c0002 | t0001 | g0037 | AFR | MSL | EPS8_chr12_15615134_15794388 | EPS8 | chr12 | 15615134 | 15794388 |
| HG03516 | hp1 | a0001 | c0002 | t0001 | g0072 | AFR | ESN | EPS8_chr12_15615134_15794388 | EPS8 | chr12 | 15615134 | 15794388 |
| HG03516 | hp2 | a0001 | c0001 | t0001 | g0067 | AFR | ESN | EPS8_chr12_15615134_15794388 | EPS8 | chr12 | 15615134 | 15794388 |
| HG03579 | hp1 | a0001 | c0002 | t0001 | g0076 | AFR | MSL | EPS8_chr12_15615134_15794388 | EPS8 | chr12 | 15615134 | 15794388 |
| HG03579 | hp2 | a0001 | c0001 | t0001 | g0087 | AFR | MSL | EPS8_chr12_15615134_15794388 | EPS8 | chr12 | 15615134 | 15794388 |
| HG03831 | hp1 | a0001 | c0001 | t0001 | g0094 | SAS | BEB | EPS8_chr12_15615134_15794388 | EPS8 | chr12 | 15615134 | 15794388 |
| HG03831 | hp2 | a0001 | c0001 | t0001 | g0005 | SAS | BEB | EPS8_chr12_15615134_15794388 | EPS8 | chr12 | 15615134 | 15794388 |
| NA18906 | hp1 | a0001 | c0001 | t0003 | g0004 | AFR | YRI | EPS8_chr12_15615134_15794388 | EPS8 | chr12 | 15615134 | 15794388 |
| NA18906 | hp2 | a0001 | c0001 | t0001 | g0059 | AFR | YRI | EPS8_chr12_15615134_15794388 | EPS8 | chr12 | 15615134 | 15794388 |
| NA18944 | hp1 | a0002 | c0004 | t0001 | g0081 | EAS | JPT | EPS8_chr12_15615134_15794388 | EPS8 | chr12 | 15615134 | 15794388 |
| NA18944 | hp2 | a0001 | c0001 | t0001 | g0099 | EAS | JPT | EPS8_chr12_15615134_15794388 | EPS8 | chr12 | 15615134 | 15794388 |
| NA18978 | hp1 | a0001 | c0001 | t0001 | g0045 | EAS | JPT | EPS8_chr12_15615134_15794388 | EPS8 | chr12 | 15615134 | 15794388 |
| NA18978 | hp2 | a0001 | c0001 | t0001 | g0101 | EAS | JPT | EPS8_chr12_15615134_15794388 | EPS8 | chr12 | 15615134 | 15794388 |
| NA19009 | hp1 | a0001 | c0001 | t0001 | g0042 | EAS | JPT | EPS8_chr12_15615134_15794388 | EPS8 | chr12 | 15615134 | 15794388 |
| NA19009 | hp2 | a0001 | c0001 | t0010 | g0049 | EAS | JPT | EPS8_chr12_15615134_15794388 | EPS8 | chr12 | 15615134 | 15794388 |
| NA19030 | hp1 | a0001 | c0002 | t0001 | g0069 | AFR | LWK | EPS8_chr12_15615134_15794388 | EPS8 | chr12 | 15615134 | 15794388 |
| NA19030 | hp2 | a0001 | c0003 | t0006 | g0066 | AFR | LWK | EPS8_chr12_15615134_15794388 | EPS8 | chr12 | 15615134 | 15794388 |
| NA19043 | hp1 | a0001 | c0001 | t0001 | g0017 | AFR | LWK | EPS8_chr12_15615134_15794388 | EPS8 | chr12 | 15615134 | 15794388 |
| NA19043 | hp2 | a0001 | c0002 | t0001 | g0054 | AFR | LWK | EPS8_chr12_15615134_15794388 | EPS8 | chr12 | 15615134 | 15794388 |
| NA19062 | hp1 | a0001 | c0002 | t0001 | g0047 | EAS | JPT | EPS8_chr12_15615134_15794388 | EPS8 | chr12 | 15615134 | 15794388 |
| NA19062 | hp2 | a0001 | c0001 | t0001 | g0083 | EAS | JPT | EPS8_chr12_15615134_15794388 | EPS8 | chr12 | 15615134 | 15794388 |
| NA19063 | hp1 | a0001 | c0001 | t0001 | g0102 | EAS | JPT | EPS8_chr12_15615134_15794388 | EPS8 | chr12 | 15615134 | 15794388 |
| NA19063 | hp2 | a0001 | c0001 | t0001 | g0041 | EAS | JPT | EPS8_chr12_15615134_15794388 | EPS8 | chr12 | 15615134 | 15794388 |
| NA19087 | hp1 | a0001 | c0002 | t0001 | g0065 | EAS | JPT | EPS8_chr12_15615134_15794388 | EPS8 | chr12 | 15615134 | 15794388 |
| NA19087 | hp2 | a0001 | c0001 | t0001 | g0095 | EAS | JPT | EPS8_chr12_15615134_15794388 | EPS8 | chr12 | 15615134 | 15794388 |
| NA19240 | hp1 | a0001 | c0002 | t0001 | g0034 | AFR | YRI | EPS8_chr12_15615134_15794388 | EPS8 | chr12 | 15615134 | 15794388 |
| NA19240 | hp2 | a0001 | c0002 | t0003 | g0002 | AFR | YRI | EPS8_chr12_15615134_15794388 | EPS8 | chr12 | 15615134 | 15794388 |
| HG02109 | hp1 | a0001 | c0002 | t0001 | g0075 | AFR | ACB | EPS8_chr12_15615134_15794388 | EPS8 | chr12 | 15615134 | 15794388 |
| HG02109 | hp2 | a0001 | c0003 | t0004 | g0039 | AFR | ACB | EPS8_chr12_15615134_15794388 | EPS8 | chr12 | 15615134 | 15794388 |
| HG02559 | hp1 | a0001 | c0001 | t0001 | g0068 | AFR | ACB | EPS8_chr12_15615134_15794388 | EPS8 | chr12 | 15615134 | 15794388 |
| HG02559 | hp2 | a0001 | c0002 | t0001 | g0048 | AFR | ACB | EPS8_chr12_15615134_15794388 | EPS8 | chr12 | 15615134 | 15794388 |
| HG03471 | hp1 | a0001 | c0001 | t0001 | g0011 | AFR | MSL | EPS8_chr12_15615134_15794388 | EPS8 | chr12 | 15615134 | 15794388 |
| HG03471 | hp2 | a0001 | c0010 | t0004 | g0007 | AFR | MSL | EPS8_chr12_15615134_15794388 | EPS8 | chr12 | 15615134 | 15794388 |
| HG06807 | hp1 | a0001 | c0001 | t0001 | g0085 | AFR | USA | EPS8_chr12_15615134_15794388 | EPS8 | chr12 | 15615134 | 15794388 |
| HG06807 | hp2 | a0001 | c0003 | t0006 | g0044 | AFR | USA | EPS8_chr12_15615134_15794388 | EPS8 | chr12 | 15615134 | 15794388 |
| NA20300 | hp1 | a0001 | c0002 | t0001 | g0077 | AFR | USA | EPS8_chr12_15615134_15794388 | EPS8 | chr12 | 15615134 | 15794388 |
| NA20300 | hp2 | a0001 | c0001 | t0001 | g0052 | AFR | USA | EPS8_chr12_15615134_15794388 | EPS8 | chr12 | 15615134 | 15794388 |
| homoSapiens | chm13v2 | a0001 | c0001 | t0007 | g0089 | REF | REF | EPS8_chr12_15615134_15794388 | EPS8 | chr12 | 15615134 | 15794388 |
| homoSapiens | grch38p0 | a0001 | c0001 | t0011 | g0057 | REF | REF | EPS8_chr12_15615134_15794388 | EPS8 | chr12 | 15615134 | 15794388 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr12:15623283 | C | T | 1 | a0004 | 1 | HG00738.hp1 | missense_variant | MODERATE | c.2230G>A | p.Val744Ile | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 20/21 | 2479/3901 | 2230/2469 | 744/822 | chr12 | 15623283 | |||
| chr12:15647140 | G | A | 1 | a0002 | 4 | HG02523.hp1 HG02630.hp2 HG03041.hp2 others(1): Show |
missense_variant | MODERATE | c.1555C>T | p.Arg519Cys | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 15/21 | 1804/3901 | 1555/2469 | 519/822 | chr12 | 15647140 | |||
| chr12:15682933 | T | C | 1 | a0003 | 2 | HG00621.hp1 HG00621.hp2 |
missense_variant | MODERATE | c.19A>G | p.Asn7Asp | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 2/21 | 268/3901 | 19/2469 | 7/822 | chr12 | 15682933 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr12:15623161 | C | T | 4 | a0001c0002 a0001c0003 a0001c0005 others(1): Show |
42 | HG00733.hp1 HG01109.hp1 HG01109.hp2 others(39): Show |
synonymous_variant | LOW | c.2352G>A | p.Leu784Leu | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 20/21 | 2601/3901 | 2352/2469 | 784/822 | chr12 | 15623161 | |||
| chr12:15624244 | T | C | 1 | a0001c0009 | 1 | HG03017.hp1 | synonymous_variant | LOW | c.2208A>G | p.Ser736Ser | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 19/21 | 2457/3901 | 2208/2469 | 736/822 | chr12 | 15624244 | |||
| chr12:15624379 | T | C | 2 | a0001c0003 a0001c0010 |
6 | HG02109.hp2 HG02622.hp2 HG03130.hp2 others(3): Show |
synonymous_variant | LOW | c.2073A>G | p.Gln691Gln | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 19/21 | 2322/3901 | 2073/2469 | 691/822 | chr12 | 15624379 | |||
| chr12:15650970 | A | G | 1 | a0002c0004 | 4 | HG02523.hp1 HG02630.hp2 HG03041.hp2 others(1): Show |
synonymous_variant | LOW | c.1287T>C | p.Tyr429Tyr | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 14/21 | 1536/3901 | 1287/2469 | 429/822 | chr12 | 15650970 | |||
| chr12:15660726 | G | A | 1 | a0001c0010 | 1 | HG03471.hp2 | synonymous_variant | LOW | c.825C>T | p.His275His | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 10/21 | 1074/3901 | 825/2469 | 275/822 | chr12 | 15660726 | |||
| chr12:15669817 | A | G | 2 | a0001c0005 a0001c0007 |
3 | HG02451.hp1 HG02630.hp1 HG02818.hp1 |
synonymous_variant | LOW | c.213T>C | p.Thr71Thr | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 5/21 | 462/3901 | 213/2469 | 71/822 | chr12 | 15669817 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr12:15620486 | T | C | 1 | a0001c0007t0012 | 1 | HG02818.hp1 | 3_prime_UTR_variant | MODIFIER | c.*831A>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 21/21 | 831 | chr12 | 15620486 | ||||||
| chr12:15620487 | T | C | 1 | a0001c0001t0007 | 1 | HG01243.hp1 | 3_prime_UTR_variant | MODIFIER | c.*830A>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 21/21 | 830 | chr12 | 15620487 | ||||||
| chr12:15620543 | T | C | 2 | a0001c0002t0005 a0001c0005t0005 |
3 | HG02451.hp1 HG02630.hp1 HG03139.hp1 |
3_prime_UTR_variant | MODIFIER | c.*774A>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 21/21 | 774 | chr12 | 15620543 | ||||||
| chr12:15620605 | G | C | 3 | a0001c0003t0004 a0001c0003t0006 a0001c0010t0004 |
6 | HG02109.hp2 HG02622.hp2 HG03130.hp2 others(3): Show |
3_prime_UTR_variant | MODIFIER | c.*712C>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 21/21 | 712 | chr12 | 15620605 | ||||||
| chr12:15620684 | A | G | 1 | a0001c0003t0006 | 2 | HG06807.hp2 NA19030.hp2 |
3_prime_UTR_variant | MODIFIER | c.*633T>C | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 21/21 | 633 | chr12 | 15620684 | ||||||
| chr12:15620716 | T | C | 1 | a0001c0001t0009 | 1 | HG02258.hp2 | 3_prime_UTR_variant | MODIFIER | c.*601A>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 21/21 | 601 | chr12 | 15620716 | ||||||
| chr12:15620717 | C | G | 18 | a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(15): Show |
99 | HG00597.hp1 HG00597.hp2 HG00621.hp1 others(96): Show |
3_prime_UTR_variant | MODIFIER | c.*600G>C | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 21/21 | 600 | chr12 | 15620717 | ||||||
| chr12:15620723 | A | T | 1 | a0001c0002t0008 | 2 | HG00733.hp1 HG03041.hp1 |
3_prime_UTR_variant | MODIFIER | c.*594T>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 21/21 | 594 | chr12 | 15620723 | ||||||
| chr12:15620761 | T | C | 1 | a0001c0002t0008 | 2 | HG00733.hp1 HG03041.hp1 |
3_prime_UTR_variant | MODIFIER | c.*556A>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 21/21 | 556 | chr12 | 15620761 | ||||||
| chr12:15620800 | T | C | 1 | a0001c0001t0002 | 5 | HG01884.hp1 HG01891.hp1 HG02258.hp1 others(2): Show |
3_prime_UTR_variant | MODIFIER | c.*517A>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 21/21 | 517 | chr12 | 15620800 | ||||||
| chr12:15621193 | G | GT | 17 | a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(14): Show |
98 | HG00597.hp1 HG00597.hp2 HG00621.hp1 others(95): Show |
3_prime_UTR_variant | MODIFIER | c.*123dupA | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 21/21 | 123 | chr12 | 15621193 | ||||||
| chr12:15621268 | A | G | 3 | a0001c0003t0004 a0001c0003t0006 a0001c0010t0004 |
6 | HG02109.hp2 HG02622.hp2 HG03130.hp2 others(3): Show |
3_prime_UTR_variant | MODIFIER | c.*49T>C | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 21/21 | 49 | chr12 | 15621268 | ||||||
| chr12:15789315 | C | G | 2 | a0001c0001t0003 a0001c0002t0003 |
4 | HG01109.hp1 HG02055.hp1 NA18906.hp1 others(1): Show |
5_prime_UTR_variant | MODIFIER | c.-176G>C | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/21 | 106364 | chr12 | 15789315 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr12:15621779 | C | A | 5 | a0001c0003t0004g0030 a0001c0003t0004g0031 a0001c0003t0004g0039 others(2): Show |
5 | HG02109.hp2 HG02622.hp2 HG03130.hp2 others(2): Show |
intron_variant | MODIFIER | c.2356-349G>T | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 20/20 | chr12 | 15621779 | |||||||
| chr12:15621948 | A | C | 1 | a0001c0001t0003g0004 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.2356-518T>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 20/20 | chr12 | 15621948 | |||||||
| chr12:15622116 | G | A | 2 | a0001c0001t0001g0025 a0001c0001t0001g0056 |
2 | HG00597.hp2 HG02132.hp1 |
intron_variant | MODIFIER | c.2356-686C>T | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 20/20 | chr12 | 15622116 | |||||||
| chr12:15622173 | A | C | 5 | a0001c0001t0002g0009 a0001c0001t0002g0012 a0001c0001t0002g0013 others(2): Show |
5 | HG01884.hp1 HG01891.hp1 HG02258.hp1 others(2): Show |
intron_variant | MODIFIER | c.2356-743T>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 20/20 | chr12 | 15622173 | |||||||
| chr12:15622188 | C | T | 20 | a0001c0002t0001g0008 a0001c0002t0001g0010 a0001c0002t0001g0034 others(17): Show |
20 | HG01109.hp2 HG02055.hp2 HG02145.hp1 others(17): Show |
intron_variant | MODIFIER | c.2356-758G>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 20/20 | chr12 | 15622188 | |||||||
| chr12:15622297 | C | T | 1 | a0001c0001t0001g0059 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.2355+861G>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 20/20 | chr12 | 15622297 | |||||||
| chr12:15622579 | A | G | 1 | a0001c0001t0002g0026 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.2355+579T>C | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 20/20 | chr12 | 15622579 | |||||||
| chr12:15622718 | T | C | 1 | a0001c0001t0001g0056 | 1 | HG02132.hp1 | intron_variant | MODIFIER | c.2355+440A>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 20/20 | chr12 | 15622718 | |||||||
| chr12:15622798 | AT | A | 20 | a0001c0002t0001g0008 a0001c0002t0001g0010 a0001c0002t0001g0034 others(17): Show |
20 | HG01109.hp2 HG02055.hp2 HG02145.hp1 others(17): Show |
intron_variant | MODIFIER | c.2355+359delA | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 20/20 | chr12 | 15622798 | |||||||
| chr12:15622825 | C | G | 20 | a0001c0002t0001g0008 a0001c0002t0001g0010 a0001c0002t0001g0034 others(17): Show |
20 | HG01109.hp2 HG02055.hp2 HG02145.hp1 others(17): Show |
intron_variant | MODIFIER | c.2355+333G>C | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 20/20 | chr12 | 15622825 | |||||||
| chr12:15622852 | C | A | 9 | a0001c0001t0001g0005 a0001c0001t0001g0041 a0001c0001t0001g0052 others(6): Show |
9 | HG00621.hp2 HG00738.hp2 HG02132.hp2 others(6): Show |
intron_variant | MODIFIER | c.2355+306G>T | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 20/20 | chr12 | 15622852 | |||||||
| chr12:15623289 | T | TA | 16 | a0001c0002t0001g0006 a0001c0002t0001g0032 a0001c0002t0001g0035 others(13): Show |
16 | HG00733.hp1 HG01109.hp1 HG01884.hp2 others(13): Show |
splice_region_variant&intron_variant | LOW | c.2226-3dupT | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 19/20 | chr12 | 15623289 | |||||||
| chr12:15623393 | C | T | 4 | a0002c0004t0001g0062 a0002c0004t0001g0079 a0002c0004t0001g0081 others(1): Show |
4 | HG02523.hp1 HG02630.hp2 HG03041.hp2 others(1): Show |
intron_variant | MODIFIER | c.2226-106G>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 19/20 | chr12 | 15623393 | |||||||
| chr12:15623578 | T | C | 1 | a0001c0002t0001g0053 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.2226-291A>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 19/20 | chr12 | 15623578 | |||||||
| chr12:15623646 | G | C | 3 | a0001c0002t0005g0014 a0001c0005t0005g0033 a0001c0005t0005g0043 |
3 | HG02451.hp1 HG02630.hp1 HG03139.hp1 |
intron_variant | MODIFIER | c.2226-359C>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 19/20 | chr12 | 15623646 | |||||||
| chr12:15623934 | T | A | 3 | a0001c0001t0002g0009 a0001c0001t0002g0012 a0001c0001t0002g0013 |
3 | HG01891.hp1 HG02886.hp1 HG03098.hp1 |
intron_variant | MODIFIER | c.2225+293A>T | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 19/20 | chr12 | 15623934 | |||||||
| chr12:15623998 | T | G | 6 | a0001c0003t0004g0030 a0001c0003t0004g0031 a0001c0003t0004g0039 others(3): Show |
6 | HG02109.hp2 HG02622.hp2 HG03130.hp2 others(3): Show |
intron_variant | MODIFIER | c.2225+229A>C | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 19/20 | chr12 | 15623998 | |||||||
| chr12:15624079 | C | G | 20 | a0001c0002t0001g0008 a0001c0002t0001g0010 a0001c0002t0001g0034 others(17): Show |
20 | HG01109.hp2 HG02055.hp2 HG02145.hp1 others(17): Show |
intron_variant | MODIFIER | c.2225+148G>C | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 19/20 | chr12 | 15624079 | |||||||
| chr12:15624511 | G | A | 6 | a0001c0003t0004g0030 a0001c0003t0004g0031 a0001c0003t0004g0039 others(3): Show |
6 | HG02109.hp2 HG02622.hp2 HG03130.hp2 others(3): Show |
intron_variant | MODIFIER | c.2045-104C>T | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 18/20 | chr12 | 15624511 | |||||||
| chr12:15624552 | T | C | 99 | a0001c0001t0001g0005 a0001c0001t0001g0011 a0001c0001t0001g0016 others(96): Show |
99 | HG00597.hp1 HG00597.hp2 HG00621.hp1 others(96): Show |
intron_variant | MODIFIER | c.2045-145A>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 18/20 | chr12 | 15624552 | |||||||
| chr12:15624807 | G | T | 6 | a0001c0003t0004g0030 a0001c0003t0004g0031 a0001c0003t0004g0039 others(3): Show |
6 | HG02109.hp2 HG02622.hp2 HG03130.hp2 others(3): Show |
intron_variant | MODIFIER | c.2045-400C>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 18/20 | chr12 | 15624807 | |||||||
| chr12:15625001 | C | T | 1 | a0001c0001t0010g0049 | 1 | NA19009.hp2 | intron_variant | MODIFIER | c.2045-594G>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 18/20 | chr12 | 15625001 | |||||||
| chr12:15625051 | A | G | 4 | a0002c0004t0001g0062 a0002c0004t0001g0079 a0002c0004t0001g0081 others(1): Show |
4 | HG02523.hp1 HG02630.hp2 HG03041.hp2 others(1): Show |
intron_variant | MODIFIER | c.2045-644T>C | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 18/20 | chr12 | 15625051 | |||||||
| chr12:15625323 | T | G | 3 | a0001c0001t0002g0009 a0001c0001t0002g0012 a0001c0001t0002g0013 |
3 | HG01891.hp1 HG02886.hp1 HG03098.hp1 |
intron_variant | MODIFIER | c.2045-916A>C | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 18/20 | chr12 | 15625323 | |||||||
| chr12:15625933 | C | T | 1 | a0001c0001t0002g0022 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.2045-1526G>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 18/20 | chr12 | 15625933 | |||||||
| chr12:15625960 | C | G | 88 | a0001c0001t0001g0005 a0001c0001t0001g0016 a0001c0001t0001g0017 others(85): Show |
88 | HG00597.hp1 HG00621.hp1 HG00621.hp2 others(85): Show |
intron_variant | MODIFIER | c.2045-1553G>C | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 18/20 | chr12 | 15625960 | |||||||
| chr12:15625976 | G | T | 6 | a0001c0003t0004g0030 a0001c0003t0004g0031 a0001c0003t0004g0039 others(3): Show |
6 | HG02109.hp2 HG02622.hp2 HG03130.hp2 others(3): Show |
intron_variant | MODIFIER | c.2045-1569C>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 18/20 | chr12 | 15625976 | |||||||
| chr12:15626014 | T | C | 1 | a0001c0002t0005g0014 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.2045-1607A>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 18/20 | chr12 | 15626014 | |||||||
| chr12:15626116 | C | T | 5 | a0001c0001t0002g0009 a0001c0001t0002g0012 a0001c0001t0002g0013 others(2): Show |
5 | HG01884.hp1 HG01891.hp1 HG02258.hp1 others(2): Show |
intron_variant | MODIFIER | c.2045-1709G>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 18/20 | chr12 | 15626116 | |||||||
| chr12:15626117 | G | A | 3 | a0001c0002t0005g0014 a0001c0005t0005g0033 a0001c0005t0005g0043 |
3 | HG02451.hp1 HG02630.hp1 HG03139.hp1 |
intron_variant | MODIFIER | c.2045-1710C>T | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 18/20 | chr12 | 15626117 | |||||||
| chr12:15626405 | C | T | 5 | a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 others(2): Show |
5 | HG01243.hp2 HG01256.hp2 HG02622.hp1 others(2): Show |
intron_variant | MODIFIER | c.2045-1998G>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 18/20 | chr12 | 15626405 | |||||||
| chr12:15626490 | G | A | 5 | a0001c0003t0004g0030 a0001c0003t0004g0031 a0001c0003t0004g0039 others(2): Show |
5 | HG02109.hp2 HG02622.hp2 HG03130.hp2 others(2): Show |
intron_variant | MODIFIER | c.2045-2083C>T | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 18/20 | chr12 | 15626490 | |||||||
| chr12:15626627 | CA | C | 10 | a0001c0001t0001g0011 a0001c0001t0001g0024 a0001c0001t0001g0025 others(7): Show |
10 | HG00597.hp2 HG00733.hp2 HG01884.hp1 others(7): Show |
intron_variant | MODIFIER | c.2045-2221delT | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 18/20 | chr12 | 15626627 | |||||||
| chr12:15626627 | CAA | C | 24 | a0001c0002t0001g0008 a0001c0002t0001g0010 a0001c0002t0001g0034 others(21): Show |
24 | HG01109.hp1 HG01109.hp2 HG02055.hp2 others(21): Show |
intron_variant | MODIFIER | c.2045-2222_2045-222 others(6): Show |
EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 18/20 | chr12 | 15626627 | |||||||
| chr12:15626627 | CAAA | C | 15 | a0001c0002t0001g0006 a0001c0002t0001g0032 a0001c0002t0001g0035 others(12): Show |
15 | HG01884.hp2 HG02055.hp1 HG02109.hp1 others(12): Show |
intron_variant | MODIFIER | c.2045-2223_2045-222 others(7): Show |
EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 18/20 | chr12 | 15626627 | |||||||
| chr12:15626712 | G | A | 1 | a0001c0010t0004g0007 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.2045-2305C>T | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 18/20 | chr12 | 15626712 | |||||||
| chr12:15626738 | A | T | 1 | a0001c0010t0004g0007 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.2045-2331T>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 18/20 | chr12 | 15626738 | |||||||
| chr12:15626781 | G | A | 1 | a0001c0010t0004g0007 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.2045-2374C>T | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 18/20 | chr12 | 15626781 | |||||||
| chr12:15626782 | C | A | 1 | a0001c0010t0004g0007 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.2045-2375G>T | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 18/20 | chr12 | 15626782 | |||||||
| chr12:15626991 | T | C | 9 | a0001c0003t0004g0030 a0001c0003t0004g0031 a0001c0003t0004g0039 others(6): Show |
9 | HG02109.hp2 HG02523.hp1 HG02622.hp2 others(6): Show |
intron_variant | MODIFIER | c.2045-2584A>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 18/20 | chr12 | 15626991 | |||||||
| chr12:15627162 | T | C | 56 | a0001c0001t0001g0011 a0001c0001t0001g0020 a0001c0001t0001g0025 others(53): Show |
56 | HG00597.hp2 HG00733.hp1 HG01109.hp1 others(53): Show |
intron_variant | MODIFIER | c.2045-2755A>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 18/20 | chr12 | 15627162 | |||||||
| chr12:15627293 | C | T | 3 | a0001c0001t0002g0009 a0001c0001t0002g0012 a0001c0001t0002g0013 |
3 | HG01891.hp1 HG02886.hp1 HG03098.hp1 |
intron_variant | MODIFIER | c.2045-2886G>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 18/20 | chr12 | 15627293 | |||||||
| chr12:15627297 | C | T | 2 | a0001c0002t0001g0070 a0001c0002t0001g0071 |
2 | HG02145.hp1 HG02965.hp2 |
intron_variant | MODIFIER | c.2045-2890G>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 18/20 | chr12 | 15627297 | |||||||
| chr12:15627313 | G | GT | 4 | a0001c0001t0001g0024 a0001c0001t0001g0067 a0001c0001t0001g0068 others(1): Show |
4 | HG00733.hp2 HG02559.hp1 HG02922.hp1 others(1): Show |
intron_variant | MODIFIER | c.2045-2907dupA | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 18/20 | chr12 | 15627313 | |||||||
| chr12:15627330 | C | T | 1 | a0001c0002t0001g0069 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.2045-2923G>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 18/20 | chr12 | 15627330 | |||||||
| chr12:15627457 | T | G | 1 | a0001c0002t0001g0053 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.2045-3050A>C | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 18/20 | chr12 | 15627457 | |||||||
| chr12:15627478 | G | A | 1 | a0001c0001t0001g0052 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.2045-3071C>T | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 18/20 | chr12 | 15627478 | |||||||
| chr12:15627701 | A | C | 1 | a0003c0006t0001g0092 | 1 | HG00621.hp1 | intron_variant | MODIFIER | c.2045-3294T>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 18/20 | chr12 | 15627701 | |||||||
| chr12:15627805 | G | A | 2 | a0001c0001t0001g0020 a0001c0001t0001g0059 |
2 | HG01261.hp2 NA18906.hp2 |
intron_variant | MODIFIER | c.2045-3398C>T | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 18/20 | chr12 | 15627805 | |||||||
| chr12:15627829 | T | C | 46 | a0001c0001t0002g0009 a0001c0001t0002g0012 a0001c0001t0002g0013 others(43): Show |
46 | HG00733.hp1 HG01109.hp1 HG01109.hp2 others(43): Show |
intron_variant | MODIFIER | c.2045-3422A>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 18/20 | chr12 | 15627829 | |||||||
| chr12:15628014 | T | G | 1 | a0001c0002t0001g0047 | 1 | NA19062.hp1 | intron_variant | MODIFIER | c.2044+3428A>C | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 18/20 | chr12 | 15628014 | |||||||
| chr12:15628060 | T | C | 3 | a0001c0001t0001g0011 a0001c0001t0001g0020 a0001c0001t0001g0059 |
3 | HG01261.hp2 HG03471.hp1 NA18906.hp2 |
intron_variant | MODIFIER | c.2044+3382A>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 18/20 | chr12 | 15628060 | |||||||
| chr12:15628561 | A | G | 1 | a0001c0010t0004g0007 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.2044+2881T>C | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 18/20 | chr12 | 15628561 | |||||||
| chr12:15628566 | A | G | 4 | a0002c0004t0001g0062 a0002c0004t0001g0079 a0002c0004t0001g0081 others(1): Show |
4 | HG02523.hp1 HG02630.hp2 HG03041.hp2 others(1): Show |
intron_variant | MODIFIER | c.2044+2876T>C | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 18/20 | chr12 | 15628566 | |||||||
| chr12:15629404 | T | A | 1 | a0004c0008t0001g0028 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.2044+2038A>T | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 18/20 | chr12 | 15629404 | |||||||
| chr12:15629518 | T | C | 3 | a0001c0001t0002g0026 a0001c0002t0008g0023 a0001c0002t0008g0051 |
3 | HG00733.hp1 HG02258.hp1 HG03041.hp1 |
intron_variant | MODIFIER | c.2044+1924A>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 18/20 | chr12 | 15629518 | |||||||
| chr12:15629730 | G | A | 1 | a0001c0001t0001g0045 | 1 | NA18978.hp1 | intron_variant | MODIFIER | c.2044+1712C>T | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 18/20 | chr12 | 15629730 | |||||||
| chr12:15629734 | A | T | 1 | a0001c0001t0002g0012 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.2044+1708T>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 18/20 | chr12 | 15629734 | |||||||
| chr12:15630204 | T | TCA | 2 | a0001c0001t0001g0025 a0001c0001t0001g0056 |
2 | HG00597.hp2 HG02132.hp1 |
intron_variant | MODIFIER | c.2044+1236_2044+123 others(6): Show |
EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 18/20 | chr12 | 15630204 | |||||||
| chr12:15630204 | T | TCACA | 47 | a0001c0001t0001g0005 a0001c0001t0001g0016 a0001c0001t0001g0017 others(44): Show |
47 | HG00597.hp1 HG00621.hp1 HG00621.hp2 others(44): Show |
intron_variant | MODIFIER | c.2044+1234_2044+123 others(8): Show |
EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 18/20 | chr12 | 15630204 | |||||||
| chr12:15630204 | T | TCACACA | 20 | a0001c0002t0001g0008 a0001c0002t0001g0010 a0001c0002t0001g0034 others(17): Show |
20 | HG01109.hp2 HG02055.hp2 HG02145.hp1 others(17): Show |
intron_variant | MODIFIER | c.2044+1232_2044+123 others(10): Show |
EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 18/20 | chr12 | 15630204 | |||||||
| chr12:15630239 | C | T | 1 | a0001c0001t0001g0024 | 1 | HG00733.hp2 | intron_variant | MODIFIER | c.2044+1203G>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 18/20 | chr12 | 15630239 | |||||||
| chr12:15630439 | A | G | 3 | a0001c0001t0002g0026 a0001c0002t0008g0023 a0001c0002t0008g0051 |
3 | HG00733.hp1 HG02258.hp1 HG03041.hp1 |
intron_variant | MODIFIER | c.2044+1003T>C | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 18/20 | chr12 | 15630439 | |||||||
| chr12:15630520 | T | C | 3 | a0001c0002t0005g0014 a0001c0005t0005g0033 a0001c0005t0005g0043 |
3 | HG02451.hp1 HG02630.hp1 HG03139.hp1 |
intron_variant | MODIFIER | c.2044+922A>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 18/20 | chr12 | 15630520 | |||||||
| chr12:15630639 | G | A | 20 | a0001c0002t0001g0008 a0001c0002t0001g0010 a0001c0002t0001g0034 others(17): Show |
20 | HG01109.hp2 HG02055.hp2 HG02145.hp1 others(17): Show |
intron_variant | MODIFIER | c.2044+803C>T | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 18/20 | chr12 | 15630639 | |||||||
| chr12:15630703 | TAGGA | T | 5 | a0001c0003t0004g0030 a0001c0003t0004g0031 a0001c0003t0004g0039 others(2): Show |
5 | HG02109.hp2 HG02622.hp2 HG03130.hp2 others(2): Show |
intron_variant | MODIFIER | c.2044+735_2044+738d others(6): Show |
EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 18/20 | chr12 | 15630703 | |||||||
| chr12:15630775 | A | G | 1 | a0001c0002t0001g0040 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.2044+667T>C | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 18/20 | chr12 | 15630775 | |||||||
| chr12:15631014 | A | G | 4 | a0001c0001t0001g0029 a0001c0001t0001g0060 a0001c0001t0001g0082 others(1): Show |
4 | HG00738.hp1 HG01071.hp1 HG02300.hp2 others(1): Show |
intron_variant | MODIFIER | c.2044+428T>C | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 18/20 | chr12 | 15631014 | |||||||
| chr12:15631117 | G | T | 1 | a0001c0001t0001g0011 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.2044+325C>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 18/20 | chr12 | 15631117 | |||||||
| chr12:15631161 | T | C | 29 | a0001c0002t0001g0008 a0001c0002t0001g0010 a0001c0002t0001g0034 others(26): Show |
29 | HG01109.hp2 HG02055.hp2 HG02109.hp2 others(26): Show |
intron_variant | MODIFIER | c.2044+281A>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 18/20 | chr12 | 15631161 | |||||||
| chr12:15631233 | G | C | 2 | a0001c0001t0001g0025 a0001c0001t0001g0056 |
2 | HG00597.hp2 HG02132.hp1 |
intron_variant | MODIFIER | c.2044+209C>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 18/20 | chr12 | 15631233 | |||||||
| chr12:15631284 | C | G | 20 | a0001c0002t0001g0008 a0001c0002t0001g0010 a0001c0002t0001g0034 others(17): Show |
20 | HG01109.hp2 HG02055.hp2 HG02145.hp1 others(17): Show |
intron_variant | MODIFIER | c.2044+158G>C | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 18/20 | chr12 | 15631284 | |||||||
| chr12:15631889 | C | T | 3 | a0001c0002t0005g0014 a0001c0005t0005g0033 a0001c0005t0005g0043 |
3 | HG02451.hp1 HG02630.hp1 HG03139.hp1 |
intron_variant | MODIFIER | c.1822-225G>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 17/20 | chr12 | 15631889 | |||||||
| chr12:15631893 | G | A | 1 | a0001c0007t0012g0015 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.1822-229C>T | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 17/20 | chr12 | 15631893 | |||||||
| chr12:15631907 | G | A | 2 | a0001c0001t0001g0025 a0001c0001t0001g0056 |
2 | HG00597.hp2 HG02132.hp1 |
intron_variant | MODIFIER | c.1822-243C>T | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 17/20 | chr12 | 15631907 | |||||||
| chr12:15632035 | G | T | 4 | a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 others(1): Show |
4 | HG01243.hp2 HG02622.hp1 HG02717.hp2 others(1): Show |
intron_variant | MODIFIER | c.1822-371C>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 17/20 | chr12 | 15632035 | |||||||
| chr12:15632286 | T | C | 99 | a0001c0001t0001g0005 a0001c0001t0001g0011 a0001c0001t0001g0016 others(96): Show |
99 | HG00597.hp1 HG00597.hp2 HG00621.hp1 others(96): Show |
intron_variant | MODIFIER | c.1822-622A>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 17/20 | chr12 | 15632286 | |||||||
| chr12:15632446 | TTAAATC | T | 2 | a0001c0001t0001g0025 a0001c0001t0001g0056 |
2 | HG00597.hp2 HG02132.hp1 |
intron_variant | MODIFIER | c.1822-788_1822-783d others(8): Show |
EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 17/20 | chr12 | 15632446 | |||||||
| chr12:15632522 | T | A | 3 | a0001c0001t0002g0009 a0001c0001t0002g0012 a0001c0001t0002g0013 |
3 | HG01891.hp1 HG02886.hp1 HG03098.hp1 |
intron_variant | MODIFIER | c.1822-858A>T | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 17/20 | chr12 | 15632522 | |||||||
| chr12:15632764 | C | CCA | 3 | a0001c0002t0005g0014 a0001c0005t0005g0033 a0001c0005t0005g0043 |
3 | HG02451.hp1 HG02630.hp1 HG03139.hp1 |
intron_variant | MODIFIER | c.1822-1102_1822-110 others(6): Show |
EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 17/20 | chr12 | 15632764 | |||||||
| chr12:15632773 | G | C | 3 | a0001c0002t0005g0014 a0001c0005t0005g0033 a0001c0005t0005g0043 |
3 | HG02451.hp1 HG02630.hp1 HG03139.hp1 |
intron_variant | MODIFIER | c.1822-1109C>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 17/20 | chr12 | 15632773 | |||||||
| chr12:15632833 | A | C | 99 | a0001c0001t0001g0005 a0001c0001t0001g0011 a0001c0001t0001g0016 others(96): Show |
99 | HG00597.hp1 HG00597.hp2 HG00621.hp1 others(96): Show |
intron_variant | MODIFIER | c.1822-1169T>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 17/20 | chr12 | 15632833 | |||||||
| chr12:15632938 | A | T | 4 | a0002c0004t0001g0062 a0002c0004t0001g0079 a0002c0004t0001g0081 others(1): Show |
4 | HG02523.hp1 HG02630.hp2 HG03041.hp2 others(1): Show |
intron_variant | MODIFIER | c.1822-1274T>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 17/20 | chr12 | 15632938 | |||||||
| chr12:15633059 | G | A | 20 | a0001c0002t0001g0008 a0001c0002t0001g0010 a0001c0002t0001g0034 others(17): Show |
20 | HG01109.hp2 HG02055.hp2 HG02145.hp1 others(17): Show |
intron_variant | MODIFIER | c.1822-1395C>T | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 17/20 | chr12 | 15633059 | |||||||
| chr12:15633094 | T | C | 2 | a0002c0004t0001g0062 a0002c0004t0001g0079 |
2 | HG02630.hp2 HG03041.hp2 |
intron_variant | MODIFIER | c.1822-1430A>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 17/20 | chr12 | 15633094 | |||||||
| chr12:15633190 | T | C | 4 | a0001c0001t0002g0009 a0001c0001t0002g0012 a0001c0001t0002g0013 others(1): Show |
4 | HG01884.hp1 HG01891.hp1 HG02886.hp1 others(1): Show |
intron_variant | MODIFIER | c.1822-1526A>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 17/20 | chr12 | 15633190 | |||||||
| chr12:15633453 | G | A | 1 | a0001c0001t0001g0021 | 1 | HG01256.hp2 | intron_variant | MODIFIER | c.1822-1789C>T | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 17/20 | chr12 | 15633453 | |||||||
| chr12:15633596 | C | T | 1 | a0001c0001t0002g0026 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.1822-1932G>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 17/20 | chr12 | 15633596 | |||||||
| chr12:15633838 | A | G | 20 | a0001c0002t0001g0008 a0001c0002t0001g0010 a0001c0002t0001g0034 others(17): Show |
20 | HG01109.hp2 HG02055.hp2 HG02145.hp1 others(17): Show |
intron_variant | MODIFIER | c.1822-2174T>C | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 17/20 | chr12 | 15633838 | |||||||
| chr12:15633944 | A | C | 42 | a0001c0001t0002g0009 a0001c0001t0002g0012 a0001c0001t0002g0013 others(39): Show |
42 | HG00733.hp1 HG01109.hp1 HG01109.hp2 others(39): Show |
intron_variant | MODIFIER | c.1822-2280T>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 17/20 | chr12 | 15633944 | |||||||
| chr12:15634055 | C | G | 9 | a0001c0003t0004g0030 a0001c0003t0004g0031 a0001c0003t0004g0039 others(6): Show |
9 | HG02109.hp2 HG02523.hp1 HG02622.hp2 others(6): Show |
intron_variant | MODIFIER | c.1822-2391G>C | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 17/20 | chr12 | 15634055 | |||||||
| chr12:15634141 | T | C | 2 | a0002c0004t0001g0062 a0002c0004t0001g0079 |
2 | HG02630.hp2 HG03041.hp2 |
intron_variant | MODIFIER | c.1822-2477A>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 17/20 | chr12 | 15634141 | |||||||
| chr12:15634542 | C | T | 11 | a0001c0002t0001g0006 a0001c0002t0001g0032 a0001c0002t0001g0053 others(8): Show |
11 | HG01109.hp1 HG01884.hp2 HG02055.hp1 others(8): Show |
intron_variant | MODIFIER | c.1822-2878G>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 17/20 | chr12 | 15634542 | |||||||
| chr12:15634726 | G | A | 1 | a0001c0010t0004g0007 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.1822-3062C>T | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 17/20 | chr12 | 15634726 | |||||||
| chr12:15635056 | T | G | 1 | a0001c0010t0004g0007 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.1822-3392A>C | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 17/20 | chr12 | 15635056 | |||||||
| chr12:15635186 | C | CA | 2 | a0001c0001t0001g0025 a0001c0001t0001g0056 |
2 | HG00597.hp2 HG02132.hp1 |
intron_variant | MODIFIER | c.1822-3523dupT | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 17/20 | chr12 | 15635186 | |||||||
| chr12:15635311 | T | C | 4 | a0001c0002t0001g0032 a0001c0002t0001g0069 a0001c0002t0001g0077 others(1): Show |
4 | HG02055.hp1 HG03486.hp1 NA19030.hp1 others(1): Show |
intron_variant | MODIFIER | c.1822-3647A>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 17/20 | chr12 | 15635311 | |||||||
| chr12:15635512 | G | A | 1 | a0001c0001t0001g0020 | 1 | HG01261.hp2 | intron_variant | MODIFIER | c.1822-3848C>T | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 17/20 | chr12 | 15635512 | |||||||
| chr12:15635595 | T | C | 20 | a0001c0002t0001g0008 a0001c0002t0001g0010 a0001c0002t0001g0034 others(17): Show |
20 | HG01109.hp2 HG02055.hp2 HG02145.hp1 others(17): Show |
intron_variant | MODIFIER | c.1822-3931A>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 17/20 | chr12 | 15635595 | |||||||
| chr12:15635637 | T | A | 20 | a0001c0002t0001g0008 a0001c0002t0001g0010 a0001c0002t0001g0034 others(17): Show |
20 | HG01109.hp2 HG02055.hp2 HG02145.hp1 others(17): Show |
intron_variant | MODIFIER | c.1822-3973A>T | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 17/20 | chr12 | 15635637 | |||||||
| chr12:15635748 | C | T | 1 | a0001c0010t0004g0007 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.1822-4084G>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 17/20 | chr12 | 15635748 | |||||||
| chr12:15636131 | G | C | 5 | a0001c0001t0002g0009 a0001c0001t0002g0012 a0001c0001t0002g0013 others(2): Show |
5 | HG01884.hp1 HG01891.hp1 HG02258.hp1 others(2): Show |
intron_variant | MODIFIER | c.1822-4467C>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 17/20 | chr12 | 15636131 | |||||||
| chr12:15636195 | A | C | 99 | a0001c0001t0001g0005 a0001c0001t0001g0011 a0001c0001t0001g0016 others(96): Show |
99 | HG00597.hp1 HG00597.hp2 HG00621.hp1 others(96): Show |
intron_variant | MODIFIER | c.1821+4508T>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 17/20 | chr12 | 15636195 | |||||||
| chr12:15636623 | G | A | 43 | a0001c0001t0001g0005 a0001c0001t0001g0016 a0001c0001t0001g0017 others(40): Show |
43 | HG00597.hp1 HG00621.hp1 HG00621.hp2 others(40): Show |
intron_variant | MODIFIER | c.1821+4080C>T | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 17/20 | chr12 | 15636623 | |||||||
| chr12:15636636 | T | C | 3 | a0001c0002t0005g0014 a0001c0005t0005g0033 a0001c0005t0005g0043 |
3 | HG02451.hp1 HG02630.hp1 HG03139.hp1 |
intron_variant | MODIFIER | c.1821+4067A>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 17/20 | chr12 | 15636636 | |||||||
| chr12:15636725 | T | C | 1 | a0001c0001t0002g0026 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.1821+3978A>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 17/20 | chr12 | 15636725 | |||||||
| chr12:15636805 | T | C | 1 | a0001c0010t0004g0007 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.1821+3898A>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 17/20 | chr12 | 15636805 | |||||||
| chr12:15637044 | C | T | 1 | a0001c0001t0002g0026 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.1821+3659G>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 17/20 | chr12 | 15637044 | |||||||
| chr12:15637061 | G | A | 1 | a0001c0002t0001g0078 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.1821+3642C>T | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 17/20 | chr12 | 15637061 | |||||||
| chr12:15637062 | C | T | 5 | a0001c0002t0001g0006 a0001c0002t0001g0032 a0001c0002t0001g0069 others(2): Show |
5 | HG02055.hp1 HG02922.hp1 HG03486.hp1 others(2): Show |
intron_variant | MODIFIER | c.1821+3641G>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 17/20 | chr12 | 15637062 | |||||||
| chr12:15637419 | T | C | 3 | a0001c0002t0005g0014 a0001c0005t0005g0033 a0001c0005t0005g0043 |
3 | HG02451.hp1 HG02630.hp1 HG03139.hp1 |
intron_variant | MODIFIER | c.1821+3284A>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 17/20 | chr12 | 15637419 | |||||||
| chr12:15637540 | C | T | 4 | a0002c0004t0001g0062 a0002c0004t0001g0079 a0002c0004t0001g0081 others(1): Show |
4 | HG02523.hp1 HG02630.hp2 HG03041.hp2 others(1): Show |
intron_variant | MODIFIER | c.1821+3163G>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 17/20 | chr12 | 15637540 | |||||||
| chr12:15637616 | G | A | 3 | a0001c0002t0001g0035 a0001c0002t0001g0075 a0001c0002t0001g0080 |
3 | HG02109.hp1 HG02451.hp2 HG03098.hp2 |
intron_variant | MODIFIER | c.1821+3087C>T | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 17/20 | chr12 | 15637616 | |||||||
| chr12:15638015 | T | C | 2 | a0001c0001t0001g0036 a0001c0001t0001g0038 |
2 | HG02145.hp2 HG02965.hp1 |
intron_variant | MODIFIER | c.1821+2688A>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 17/20 | chr12 | 15638015 | |||||||
| chr12:15638221 | A | G | 3 | a0001c0002t0001g0035 a0001c0002t0001g0075 a0001c0002t0001g0080 |
3 | HG02109.hp1 HG02451.hp2 HG03098.hp2 |
intron_variant | MODIFIER | c.1821+2482T>C | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 17/20 | chr12 | 15638221 | |||||||
| chr12:15638433 | G | T | 45 | a0001c0001t0001g0005 a0001c0001t0001g0016 a0001c0001t0001g0017 others(42): Show |
45 | HG00597.hp1 HG00621.hp1 HG00621.hp2 others(42): Show |
intron_variant | MODIFIER | c.1821+2270C>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 17/20 | chr12 | 15638433 | |||||||
| chr12:15638970 | T | C | 99 | a0001c0001t0001g0005 a0001c0001t0001g0011 a0001c0001t0001g0016 others(96): Show |
99 | HG00597.hp1 HG00597.hp2 HG00621.hp1 others(96): Show |
intron_variant | MODIFIER | c.1821+1733A>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 17/20 | chr12 | 15638970 | |||||||
| chr12:15639000 | C | T | 3 | a0001c0002t0001g0035 a0001c0002t0001g0075 a0001c0002t0001g0080 |
3 | HG02109.hp1 HG02451.hp2 HG03098.hp2 |
intron_variant | MODIFIER | c.1821+1703G>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 17/20 | chr12 | 15639000 | |||||||
| chr12:15639117 | T | C | 15 | a0001c0002t0001g0006 a0001c0002t0001g0032 a0001c0002t0001g0053 others(12): Show |
15 | HG00733.hp1 HG01109.hp1 HG01884.hp2 others(12): Show |
intron_variant | MODIFIER | c.1821+1586A>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 17/20 | chr12 | 15639117 | |||||||
| chr12:15639532 | C | T | 1 | a0001c0001t0002g0022 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.1821+1171G>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 17/20 | chr12 | 15639532 | |||||||
| chr12:15639596 | C | A | 1 | a0001c0001t0002g0026 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.1821+1107G>T | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 17/20 | chr12 | 15639596 | |||||||
| chr12:15639671 | C | T | 1 | a0001c0001t0002g0026 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.1821+1032G>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 17/20 | chr12 | 15639671 | |||||||
| chr12:15639776 | A | G | 3 | a0001c0002t0001g0035 a0001c0002t0001g0075 a0001c0002t0001g0080 |
3 | HG02109.hp1 HG02451.hp2 HG03098.hp2 |
intron_variant | MODIFIER | c.1821+927T>C | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 17/20 | chr12 | 15639776 | |||||||
| chr12:15639851 | G | C | 5 | a0001c0002t0001g0053 a0001c0002t0003g0001 a0001c0002t0003g0002 others(2): Show |
5 | HG00733.hp1 HG01109.hp1 HG01884.hp2 others(2): Show |
intron_variant | MODIFIER | c.1821+852C>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 17/20 | chr12 | 15639851 | |||||||
| chr12:15639873 | G | A | 1 | a0001c0002t0001g0050 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.1821+830C>T | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 17/20 | chr12 | 15639873 | |||||||
| chr12:15639945 | G | A | 2 | a0001c0001t0001g0025 a0001c0001t0001g0056 |
2 | HG00597.hp2 HG02132.hp1 |
intron_variant | MODIFIER | c.1821+758C>T | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 17/20 | chr12 | 15639945 | |||||||
| chr12:15639960 | C | T | 1 | a0001c0001t0001g0021 | 1 | HG01256.hp2 | intron_variant | MODIFIER | c.1821+743G>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 17/20 | chr12 | 15639960 | |||||||
| chr12:15640445 | T | C | 5 | a0001c0002t0001g0053 a0001c0002t0003g0001 a0001c0002t0003g0002 others(2): Show |
5 | HG00733.hp1 HG01109.hp1 HG01884.hp2 others(2): Show |
intron_variant | MODIFIER | c.1821+258A>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 17/20 | chr12 | 15640445 | |||||||
| chr12:15640466 | G | A | 4 | a0001c0002t0001g0032 a0001c0002t0001g0069 a0001c0002t0001g0077 others(1): Show |
4 | HG02055.hp1 HG03486.hp1 NA19030.hp1 others(1): Show |
intron_variant | MODIFIER | c.1821+237C>T | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 17/20 | chr12 | 15640466 | |||||||
| chr12:15640563 | C | T | 3 | a0001c0002t0001g0053 a0001c0002t0003g0001 a0001c0002t0003g0002 |
3 | HG01109.hp1 HG01884.hp2 NA19240.hp2 |
intron_variant | MODIFIER | c.1821+140G>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 17/20 | chr12 | 15640563 | |||||||
| chr12:15640931 | T | C | 19 | a0001c0002t0001g0008 a0001c0002t0001g0010 a0001c0002t0001g0034 others(16): Show |
19 | HG01109.hp2 HG02055.hp2 HG02145.hp1 others(16): Show |
intron_variant | MODIFIER | c.1678-85A>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 16/20 | chr12 | 15640931 | |||||||
| chr12:15641019 | T | C | 1 | a0001c0010t0004g0007 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.1678-173A>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 16/20 | chr12 | 15641019 | |||||||
| chr12:15641021 | CA | C | 22 | a0001c0001t0001g0011 a0001c0001t0001g0020 a0001c0001t0001g0059 others(19): Show |
22 | HG01109.hp2 HG01261.hp2 HG02055.hp2 others(19): Show |
intron_variant | MODIFIER | c.1678-176delT | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 16/20 | chr12 | 15641021 | |||||||
| chr12:15641159 | A | T | 1 | a0001c0001t0001g0011 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.1678-313T>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 16/20 | chr12 | 15641159 | |||||||
| chr12:15641178 | T | C | 1 | a0001c0001t0001g0005 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.1678-332A>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 16/20 | chr12 | 15641178 | |||||||
| chr12:15641302 | T | C | 3 | a0001c0001t0001g0011 a0001c0001t0001g0020 a0001c0001t0001g0059 |
3 | HG01261.hp2 HG03471.hp1 NA18906.hp2 |
intron_variant | MODIFIER | c.1677+420A>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 16/20 | chr12 | 15641302 | |||||||
| chr12:15641437 | C | T | 1 | a0001c0001t0001g0087 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.1677+285G>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 16/20 | chr12 | 15641437 | |||||||
| chr12:15641469 | G | C | 1 | a0001c0001t0002g0026 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.1677+253C>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 16/20 | chr12 | 15641469 | |||||||
| chr12:15641511 | C | T | 3 | a0001c0002t0001g0035 a0001c0002t0001g0075 a0001c0002t0001g0080 |
3 | HG02109.hp1 HG02451.hp2 HG03098.hp2 |
intron_variant | MODIFIER | c.1677+211G>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 16/20 | chr12 | 15641511 | |||||||
| chr12:15641637 | T | C | 1 | a0001c0002t0003g0001 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.1677+85A>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 16/20 | chr12 | 15641637 | |||||||
| chr12:15641686 | T | C | 24 | a0001c0001t0001g0011 a0001c0001t0001g0020 a0001c0001t0001g0025 others(21): Show |
24 | HG00597.hp2 HG01109.hp2 HG01261.hp2 others(21): Show |
intron_variant | MODIFIER | c.1677+36A>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 16/20 | chr12 | 15641686 | |||||||
| chr12:15641862 | T | C | 1 | a0001c0002t0001g0055 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.1569-32A>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 15/20 | chr12 | 15641862 | |||||||
| chr12:15642215 | T | C | 8 | a0001c0002t0005g0014 a0001c0003t0004g0030 a0001c0003t0004g0031 others(5): Show |
8 | HG02109.hp2 HG02451.hp1 HG02622.hp2 others(5): Show |
intron_variant | MODIFIER | c.1569-385A>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 15/20 | chr12 | 15642215 | |||||||
| chr12:15642236 | T | C | 1 | a0001c0001t0001g0021 | 1 | HG01256.hp2 | intron_variant | MODIFIER | c.1569-406A>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 15/20 | chr12 | 15642236 | |||||||
| chr12:15642451 | T | C | 1 | a0001c0001t0002g0026 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.1569-621A>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 15/20 | chr12 | 15642451 | |||||||
| chr12:15642714 | G | A | 1 | a0001c0002t0001g0047 | 1 | NA19062.hp1 | intron_variant | MODIFIER | c.1569-884C>T | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 15/20 | chr12 | 15642714 | |||||||
| chr12:15642813 | C | T | 8 | a0001c0002t0001g0006 a0001c0002t0001g0032 a0001c0002t0001g0053 others(5): Show |
8 | HG01109.hp1 HG01884.hp2 HG02055.hp1 others(5): Show |
intron_variant | MODIFIER | c.1569-983G>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 15/20 | chr12 | 15642813 | |||||||
| chr12:15642941 | A | C | 75 | a0001c0001t0001g0005 a0001c0001t0001g0016 a0001c0001t0001g0017 others(72): Show |
75 | HG00597.hp1 HG00621.hp1 HG00621.hp2 others(72): Show |
intron_variant | MODIFIER | c.1569-1111T>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 15/20 | chr12 | 15642941 | |||||||
| chr12:15642948 | C | T | 4 | a0001c0002t0001g0032 a0001c0002t0001g0069 a0001c0002t0001g0077 others(1): Show |
4 | HG02055.hp1 HG03486.hp1 NA19030.hp1 others(1): Show |
intron_variant | MODIFIER | c.1569-1118G>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 15/20 | chr12 | 15642948 | |||||||
| chr12:15643063 | A | G | 2 | a0001c0001t0001g0025 a0001c0001t0001g0056 |
2 | HG00597.hp2 HG02132.hp1 |
intron_variant | MODIFIER | c.1569-1233T>C | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 15/20 | chr12 | 15643063 | |||||||
| chr12:15643284 | T | G | 97 | a0001c0001t0001g0005 a0001c0001t0001g0011 a0001c0001t0001g0016 others(94): Show |
97 | HG00597.hp1 HG00597.hp2 HG00621.hp1 others(94): Show |
intron_variant | MODIFIER | c.1569-1454A>C | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 15/20 | chr12 | 15643284 | |||||||
| chr12:15643676 | G | A | 73 | a0001c0001t0001g0005 a0001c0001t0001g0016 a0001c0001t0001g0017 others(70): Show |
73 | HG00597.hp1 HG00621.hp1 HG00621.hp2 others(70): Show |
intron_variant | MODIFIER | c.1569-1846C>T | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 15/20 | chr12 | 15643676 | |||||||
| chr12:15643699 | A | G | 45 | a0001c0001t0001g0005 a0001c0001t0001g0016 a0001c0001t0001g0017 others(42): Show |
45 | HG00597.hp1 HG00621.hp1 HG00621.hp2 others(42): Show |
intron_variant | MODIFIER | c.1569-1869T>C | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 15/20 | chr12 | 15643699 | |||||||
| chr12:15643720 | C | T | 1 | a0001c0007t0012g0015 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.1569-1890G>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 15/20 | chr12 | 15643720 | |||||||
| chr12:15643740 | G | GAAAAAAA others(1): Show |
4 | a0001c0001t0002g0026 a0001c0010t0004g0007 a0002c0004t0001g0062 others(1): Show |
4 | HG02258.hp1 HG02630.hp2 HG03041.hp2 others(1): Show |
intron_variant | MODIFIER | c.1569-1918_1569-191 others(12): Show |
EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 15/20 | chr12 | 15643740 | |||||||
| chr12:15643740 | GA | G | 4 | a0001c0001t0001g0025 a0001c0001t0001g0056 a0001c0002t0001g0050 others(1): Show |
4 | HG00597.hp2 HG02132.hp1 HG02976.hp1 others(1): Show |
intron_variant | MODIFIER | c.1569-1911delT | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 15/20 | chr12 | 15643740 | |||||||
| chr12:15643740 | GAA | G | 64 | a0001c0001t0001g0005 a0001c0001t0001g0016 a0001c0001t0001g0017 others(61): Show |
64 | HG00597.hp1 HG00621.hp1 HG00621.hp2 others(61): Show |
intron_variant | MODIFIER | c.1569-1912_1569-191 others(6): Show |
EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 15/20 | chr12 | 15643740 | |||||||
| chr12:15643743 | A | G | 4 | a0001c0001t0001g0029 a0001c0001t0001g0060 a0001c0001t0001g0082 others(1): Show |
4 | HG00738.hp1 HG01071.hp1 HG02300.hp2 others(1): Show |
intron_variant | MODIFIER | c.1569-1913T>C | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 15/20 | chr12 | 15643743 | |||||||
| chr12:15643778 | C | A | 1 | a0001c0001t0002g0022 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.1569-1948G>T | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 15/20 | chr12 | 15643778 | |||||||
| chr12:15643924 | T | C | 22 | a0001c0001t0001g0011 a0001c0001t0001g0020 a0001c0001t0001g0059 others(19): Show |
22 | HG01109.hp2 HG01261.hp2 HG02055.hp2 others(19): Show |
intron_variant | MODIFIER | c.1569-2094A>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 15/20 | chr12 | 15643924 | |||||||
| chr12:15644697 | CA | C | 90 | a0001c0001t0001g0005 a0001c0001t0001g0011 a0001c0001t0001g0016 others(87): Show |
90 | HG00597.hp1 HG00597.hp2 HG00738.hp1 others(87): Show |
intron_variant | MODIFIER | c.1568+2429delT | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 15/20 | chr12 | 15644697 | |||||||
| chr12:15644697 | CAA | C | 4 | a0001c0002t0001g0032 a0001c0002t0001g0069 a0001c0002t0001g0077 others(1): Show |
4 | HG02055.hp1 HG03486.hp1 NA19030.hp1 others(1): Show |
intron_variant | MODIFIER | c.1568+2428_1568+242 others(6): Show |
EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 15/20 | chr12 | 15644697 | |||||||
| chr12:15644792 | C | G | 1 | a0001c0002t0001g0040 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.1568+2335G>C | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 15/20 | chr12 | 15644792 | |||||||
| chr12:15644827 | T | A | 22 | a0001c0001t0001g0011 a0001c0001t0001g0020 a0001c0001t0001g0059 others(19): Show |
22 | HG01109.hp2 HG01261.hp2 HG02055.hp2 others(19): Show |
intron_variant | MODIFIER | c.1568+2300A>T | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 15/20 | chr12 | 15644827 | |||||||
| chr12:15645387 | A | G | 1 | a0001c0002t0001g0076 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.1568+1740T>C | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 15/20 | chr12 | 15645387 | |||||||
| chr12:15645421 | TCTTAA | T | 75 | a0001c0001t0001g0005 a0001c0001t0001g0016 a0001c0001t0001g0017 others(72): Show |
75 | HG00597.hp1 HG00621.hp1 HG00621.hp2 others(72): Show |
intron_variant | MODIFIER | c.1568+1701_1568+170 others(9): Show |
EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 15/20 | chr12 | 15645421 | |||||||
| chr12:15645476 | C | G | 24 | a0001c0001t0001g0011 a0001c0001t0001g0020 a0001c0001t0001g0025 others(21): Show |
24 | HG00597.hp2 HG01109.hp2 HG01261.hp2 others(21): Show |
intron_variant | MODIFIER | c.1568+1651G>C | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 15/20 | chr12 | 15645476 | |||||||
| chr12:15645517 | T | C | 3 | a0001c0001t0001g0011 a0001c0001t0001g0020 a0001c0001t0001g0059 |
3 | HG01261.hp2 HG03471.hp1 NA18906.hp2 |
intron_variant | MODIFIER | c.1568+1610A>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 15/20 | chr12 | 15645517 | |||||||
| chr12:15646148 | T | TGCTGACT others(337): Show |
1 | a0001c0002t0001g0053 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.1568+978_1568+979i others(346): Show |
EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 15/20 | chr12 | 15646148 | |||||||
| chr12:15646308 | T | A | 1 | a0001c0010t0004g0007 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.1568+819A>T | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 15/20 | chr12 | 15646308 | |||||||
| chr12:15646308 | T | C | 3 | a0001c0002t0001g0035 a0001c0002t0001g0075 a0001c0002t0001g0080 |
3 | HG02109.hp1 HG02451.hp2 HG03098.hp2 |
intron_variant | MODIFIER | c.1568+819A>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 15/20 | chr12 | 15646308 | |||||||
| chr12:15646393 | C | A | 8 | a0001c0002t0005g0014 a0001c0003t0004g0030 a0001c0003t0004g0031 others(5): Show |
8 | HG02109.hp2 HG02451.hp1 HG02622.hp2 others(5): Show |
intron_variant | MODIFIER | c.1568+734G>T | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 15/20 | chr12 | 15646393 | |||||||
| chr12:15646679 | C | T | 1 | a0001c0002t0001g0006 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.1568+448G>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 15/20 | chr12 | 15646679 | |||||||
| chr12:15646737 | T | G | 1 | a0002c0004t0001g0098 | 1 | HG02523.hp1 | intron_variant | MODIFIER | c.1568+390A>C | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 15/20 | chr12 | 15646737 | |||||||
| chr12:15646794 | C | T | 5 | a0001c0002t0001g0006 a0001c0002t0001g0032 a0001c0002t0001g0069 others(2): Show |
5 | HG02055.hp1 HG02922.hp1 HG03486.hp1 others(2): Show |
intron_variant | MODIFIER | c.1568+333G>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 15/20 | chr12 | 15646794 | |||||||
| chr12:15646852 | T | C | 3 | a0001c0002t0005g0014 a0001c0005t0005g0033 a0001c0005t0005g0043 |
3 | HG02451.hp1 HG02630.hp1 HG03139.hp1 |
intron_variant | MODIFIER | c.1568+275A>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 15/20 | chr12 | 15646852 | |||||||
| chr12:15646869 | C | T | 4 | a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 others(1): Show |
4 | HG01243.hp2 HG02622.hp1 HG02717.hp2 others(1): Show |
intron_variant | MODIFIER | c.1568+258G>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 15/20 | chr12 | 15646869 | |||||||
| chr12:15646909 | C | T | 7 | a0001c0002t0001g0035 a0001c0002t0001g0075 a0001c0002t0001g0080 others(4): Show |
7 | HG02109.hp1 HG02451.hp2 HG02523.hp1 others(4): Show |
intron_variant | MODIFIER | c.1568+218G>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 15/20 | chr12 | 15646909 | |||||||
| chr12:15647541 | C | A | 1 | a0002c0004t0001g0098 | 1 | HG02523.hp1 | intron_variant | MODIFIER | c.1435-281G>T | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 14/20 | chr12 | 15647541 | |||||||
| chr12:15648121 | T | C | 3 | a0001c0001t0001g0041 a0001c0001t0001g0090 a0001c0001t0010g0049 |
3 | HG00738.hp2 NA19009.hp2 NA19063.hp2 |
intron_variant | MODIFIER | c.1435-861A>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 14/20 | chr12 | 15648121 | |||||||
| chr12:15648146 | G | A | 1 | a0001c0001t0001g0024 | 1 | HG00733.hp2 | intron_variant | MODIFIER | c.1435-886C>T | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 14/20 | chr12 | 15648146 | |||||||
| chr12:15648146 | G | T | 1 | a0001c0002t0001g0055 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.1435-886C>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 14/20 | chr12 | 15648146 | |||||||
| chr12:15648406 | A | G | 2 | a0001c0001t0001g0025 a0001c0001t0001g0056 |
2 | HG00597.hp2 HG02132.hp1 |
intron_variant | MODIFIER | c.1435-1146T>C | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 14/20 | chr12 | 15648406 | |||||||
| chr12:15648552 | T | A | 2 | a0001c0002t0003g0001 a0001c0002t0003g0002 |
2 | HG01109.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.1435-1292A>T | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 14/20 | chr12 | 15648552 | |||||||
| chr12:15648620 | C | T | 1 | a0001c0001t0001g0021 | 1 | HG01256.hp2 | intron_variant | MODIFIER | c.1435-1360G>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 14/20 | chr12 | 15648620 | |||||||
| chr12:15648697 | A | G | 3 | a0001c0001t0002g0009 a0001c0001t0002g0012 a0001c0001t0002g0013 |
3 | HG01891.hp1 HG02886.hp1 HG03098.hp1 |
intron_variant | MODIFIER | c.1435-1437T>C | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 14/20 | chr12 | 15648697 | |||||||
| chr12:15648718 | G | T | 99 | a0001c0001t0001g0005 a0001c0001t0001g0011 a0001c0001t0001g0016 others(96): Show |
99 | HG00597.hp1 HG00597.hp2 HG00621.hp1 others(96): Show |
intron_variant | MODIFIER | c.1435-1458C>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 14/20 | chr12 | 15648718 | |||||||
| chr12:15648781 | T | A | 75 | a0001c0001t0001g0005 a0001c0001t0001g0016 a0001c0001t0001g0017 others(72): Show |
75 | HG00597.hp1 HG00621.hp1 HG00621.hp2 others(72): Show |
intron_variant | MODIFIER | c.1435-1521A>T | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 14/20 | chr12 | 15648781 | |||||||
| chr12:15648865 | C | A | 45 | a0001c0001t0001g0005 a0001c0001t0001g0016 a0001c0001t0001g0017 others(42): Show |
45 | HG00597.hp1 HG00621.hp1 HG00621.hp2 others(42): Show |
intron_variant | MODIFIER | c.1435-1605G>T | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 14/20 | chr12 | 15648865 | |||||||
| chr12:15649622 | A | G | 1 | a0001c0001t0002g0022 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.1434+1201T>C | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 14/20 | chr12 | 15649622 | |||||||
| chr12:15649701 | A | T | 1 | a0001c0002t0001g0055 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.1434+1122T>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 14/20 | chr12 | 15649701 | |||||||
| chr12:15649871 | T | C | 1 | a0001c0002t0001g0065 | 1 | NA19087.hp1 | intron_variant | MODIFIER | c.1434+952A>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 14/20 | chr12 | 15649871 | |||||||
| chr12:15650098 | A | G | 3 | a0001c0001t0002g0009 a0001c0001t0002g0012 a0001c0001t0002g0013 |
3 | HG01891.hp1 HG02886.hp1 HG03098.hp1 |
intron_variant | MODIFIER | c.1434+725T>C | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 14/20 | chr12 | 15650098 | |||||||
| chr12:15650259 | T | C | 8 | a0001c0002t0005g0014 a0001c0003t0004g0030 a0001c0003t0004g0031 others(5): Show |
8 | HG02109.hp2 HG02451.hp1 HG02622.hp2 others(5): Show |
intron_variant | MODIFIER | c.1434+564A>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 14/20 | chr12 | 15650259 | |||||||
| chr12:15650597 | A | G | 4 | a0002c0004t0001g0062 a0002c0004t0001g0079 a0002c0004t0001g0081 others(1): Show |
4 | HG02523.hp1 HG02630.hp2 HG03041.hp2 others(1): Show |
intron_variant | MODIFIER | c.1434+226T>C | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 14/20 | chr12 | 15650597 | |||||||
| chr12:15650615 | T | A | 25 | a0001c0001t0001g0011 a0001c0001t0001g0020 a0001c0001t0001g0059 others(22): Show |
25 | HG01109.hp2 HG01261.hp2 HG02055.hp2 others(22): Show |
intron_variant | MODIFIER | c.1434+208A>T | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 14/20 | chr12 | 15650615 | |||||||
| chr12:15651058 | T | C | 70 | a0001c0001t0001g0005 a0001c0001t0001g0016 a0001c0001t0001g0017 others(67): Show |
70 | HG00597.hp1 HG00621.hp1 HG00621.hp2 others(67): Show |
intron_variant | MODIFIER | c.1251-52A>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 13/20 | chr12 | 15651058 | |||||||
| chr12:15651222 | T | C | 1 | a0001c0010t0004g0007 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.1251-216A>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 13/20 | chr12 | 15651222 | |||||||
| chr12:15651259 | C | A | 1 | a0001c0001t0001g0082 | 1 | HG03017.hp2 | intron_variant | MODIFIER | c.1251-253G>T | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 13/20 | chr12 | 15651259 | |||||||
| chr12:15651791 | T | C | 10 | a0001c0001t0002g0026 a0001c0003t0004g0030 a0001c0003t0004g0031 others(7): Show |
10 | HG02109.hp2 HG02258.hp1 HG02523.hp1 others(7): Show |
intron_variant | MODIFIER | c.1251-785A>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 13/20 | chr12 | 15651791 | |||||||
| chr12:15652083 | C | G | 1 | a0001c0002t0001g0053 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.1251-1077G>C | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 13/20 | chr12 | 15652083 | |||||||
| chr12:15652385 | A | G | 72 | a0001c0001t0001g0005 a0001c0001t0001g0016 a0001c0001t0001g0017 others(69): Show |
72 | HG00597.hp1 HG00621.hp1 HG00621.hp2 others(69): Show |
intron_variant | MODIFIER | c.1251-1379T>C | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 13/20 | chr12 | 15652385 | |||||||
| chr12:15652682 | T | C | 4 | a0002c0004t0001g0062 a0002c0004t0001g0079 a0002c0004t0001g0081 others(1): Show |
4 | HG02523.hp1 HG02630.hp2 HG03041.hp2 others(1): Show |
intron_variant | MODIFIER | c.1250+1463A>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 13/20 | chr12 | 15652682 | |||||||
| chr12:15652688 | A | G | 3 | a0001c0002t0005g0014 a0001c0005t0005g0033 a0001c0005t0005g0043 |
3 | HG02451.hp1 HG02630.hp1 HG03139.hp1 |
intron_variant | MODIFIER | c.1250+1457T>C | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 13/20 | chr12 | 15652688 | |||||||
| chr12:15652909 | C | A | 3 | a0001c0001t0001g0011 a0001c0001t0001g0020 a0001c0001t0001g0059 |
3 | HG01261.hp2 HG03471.hp1 NA18906.hp2 |
intron_variant | MODIFIER | c.1250+1236G>T | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 13/20 | chr12 | 15652909 | |||||||
| chr12:15652934 | T | C | 25 | a0001c0001t0001g0011 a0001c0001t0001g0020 a0001c0001t0001g0059 others(22): Show |
25 | HG01109.hp2 HG01261.hp2 HG02055.hp2 others(22): Show |
intron_variant | MODIFIER | c.1250+1211A>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 13/20 | chr12 | 15652934 | |||||||
| chr12:15652972 | A | G | 1 | a0001c0002t0005g0014 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.1250+1173T>C | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 13/20 | chr12 | 15652972 | |||||||
| chr12:15653166 | T | C | 99 | a0001c0001t0001g0005 a0001c0001t0001g0011 a0001c0001t0001g0016 others(96): Show |
99 | HG00597.hp1 HG00597.hp2 HG00621.hp1 others(96): Show |
intron_variant | MODIFIER | c.1250+979A>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 13/20 | chr12 | 15653166 | |||||||
| chr12:15653642 | G | A | 2 | a0001c0002t0008g0023 a0001c0002t0008g0051 |
2 | HG00733.hp1 HG03041.hp1 |
intron_variant | MODIFIER | c.1250+503C>T | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 13/20 | chr12 | 15653642 | |||||||
| chr12:15653740 | T | C | 51 | a0001c0001t0001g0005 a0001c0001t0001g0016 a0001c0001t0001g0017 others(48): Show |
51 | HG00597.hp1 HG00621.hp1 HG00621.hp2 others(48): Show |
intron_variant | MODIFIER | c.1250+405A>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 13/20 | chr12 | 15653740 | |||||||
| chr12:15653803 | G | A | 3 | a0001c0002t0005g0014 a0001c0005t0005g0033 a0001c0005t0005g0043 |
3 | HG02451.hp1 HG02630.hp1 HG03139.hp1 |
intron_variant | MODIFIER | c.1250+342C>T | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 13/20 | chr12 | 15653803 | |||||||
| chr12:15653823 | G | A | 44 | a0001c0001t0001g0005 a0001c0001t0001g0016 a0001c0001t0001g0017 others(41): Show |
44 | HG00597.hp1 HG00621.hp1 HG00621.hp2 others(41): Show |
intron_variant | MODIFIER | c.1250+322C>T | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 13/20 | chr12 | 15653823 | |||||||
| chr12:15653990 | A | G | 4 | a0002c0004t0001g0062 a0002c0004t0001g0079 a0002c0004t0001g0081 others(1): Show |
4 | HG02523.hp1 HG02630.hp2 HG03041.hp2 others(1): Show |
intron_variant | MODIFIER | c.1250+155T>C | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 13/20 | chr12 | 15653990 | |||||||
| chr12:15654433 | T | C | 72 | a0001c0001t0001g0005 a0001c0001t0001g0016 a0001c0001t0001g0017 others(69): Show |
72 | HG00597.hp1 HG00621.hp1 HG00621.hp2 others(69): Show |
intron_variant | MODIFIER | c.1102-140A>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 12/20 | chr12 | 15654433 | |||||||
| chr12:15654862 | T | C | 72 | a0001c0001t0001g0005 a0001c0001t0001g0016 a0001c0001t0001g0017 others(69): Show |
72 | HG00597.hp1 HG00621.hp1 HG00621.hp2 others(69): Show |
intron_variant | MODIFIER | c.1102-569A>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 12/20 | chr12 | 15654862 | |||||||
| chr12:15654869 | T | G | 3 | a0001c0001t0002g0009 a0001c0001t0002g0012 a0001c0001t0002g0013 |
3 | HG01891.hp1 HG02886.hp1 HG03098.hp1 |
intron_variant | MODIFIER | c.1102-576A>C | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 12/20 | chr12 | 15654869 | |||||||
| chr12:15655005 | G | C | 3 | a0001c0002t0001g0053 a0001c0002t0003g0001 a0001c0002t0003g0002 |
3 | HG01109.hp1 HG01884.hp2 NA19240.hp2 |
intron_variant | MODIFIER | c.1102-712C>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 12/20 | chr12 | 15655005 | |||||||
| chr12:15655273 | G | C | 99 | a0001c0001t0001g0005 a0001c0001t0001g0011 a0001c0001t0001g0016 others(96): Show |
99 | HG00597.hp1 HG00597.hp2 HG00621.hp1 others(96): Show |
intron_variant | MODIFIER | c.1102-980C>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 12/20 | chr12 | 15655273 | |||||||
| chr12:15655472 | C | T | 3 | a0001c0001t0002g0009 a0001c0001t0002g0012 a0001c0001t0002g0013 |
3 | HG01891.hp1 HG02886.hp1 HG03098.hp1 |
intron_variant | MODIFIER | c.1102-1179G>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 12/20 | chr12 | 15655472 | |||||||
| chr12:15655487 | T | G | 1 | a0001c0001t0007g0084 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.1102-1194A>C | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 12/20 | chr12 | 15655487 | |||||||
| chr12:15655523 | G | A | 3 | a0001c0001t0002g0009 a0001c0001t0002g0012 a0001c0001t0002g0013 |
3 | HG01891.hp1 HG02886.hp1 HG03098.hp1 |
intron_variant | MODIFIER | c.1102-1230C>T | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 12/20 | chr12 | 15655523 | |||||||
| chr12:15655786 | G | A | 44 | a0001c0001t0001g0005 a0001c0001t0001g0016 a0001c0001t0001g0017 others(41): Show |
44 | HG00597.hp1 HG00621.hp1 HG00621.hp2 others(41): Show |
intron_variant | MODIFIER | c.1102-1493C>T | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 12/20 | chr12 | 15655786 | |||||||
| chr12:15655789 | C | T | 44 | a0001c0001t0001g0005 a0001c0001t0001g0016 a0001c0001t0001g0017 others(41): Show |
44 | HG00597.hp1 HG00621.hp1 HG00621.hp2 others(41): Show |
intron_variant | MODIFIER | c.1102-1496G>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 12/20 | chr12 | 15655789 | |||||||
| chr12:15655830 | G | A | 1 | a0001c0002t0001g0006 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.1102-1537C>T | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 12/20 | chr12 | 15655830 | |||||||
| chr12:15655881 | T | C | 18 | a0001c0002t0001g0008 a0001c0002t0001g0010 a0001c0002t0001g0034 others(15): Show |
18 | HG01109.hp2 HG02055.hp2 HG02109.hp1 others(15): Show |
intron_variant | MODIFIER | c.1102-1588A>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 12/20 | chr12 | 15655881 | |||||||
| chr12:15656233 | TG | T | 45 | a0001c0001t0001g0005 a0001c0001t0001g0016 a0001c0001t0001g0017 others(42): Show |
45 | HG00597.hp1 HG00621.hp1 HG00621.hp2 others(42): Show |
intron_variant | MODIFIER | c.1101+1845delC | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 12/20 | chr12 | 15656233 | |||||||
| chr12:15656417 | T | C | 5 | a0001c0002t0001g0053 a0001c0002t0003g0001 a0001c0002t0003g0002 others(2): Show |
5 | HG00733.hp1 HG01109.hp1 HG01884.hp2 others(2): Show |
intron_variant | MODIFIER | c.1101+1662A>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 12/20 | chr12 | 15656417 | |||||||
| chr12:15656730 | C | T | 45 | a0001c0001t0001g0005 a0001c0001t0001g0016 a0001c0001t0001g0017 others(42): Show |
45 | HG00597.hp1 HG00621.hp1 HG00621.hp2 others(42): Show |
intron_variant | MODIFIER | c.1101+1349G>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 12/20 | chr12 | 15656730 | |||||||
| chr12:15656938 | A | G | 2 | a0001c0002t0001g0053 a0001c0010t0004g0007 |
2 | HG01884.hp2 HG03471.hp2 |
intron_variant | MODIFIER | c.1101+1141T>C | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 12/20 | chr12 | 15656938 | |||||||
| chr12:15656957 | C | T | 5 | a0001c0001t0002g0026 a0002c0004t0001g0062 a0002c0004t0001g0079 others(2): Show |
5 | HG02258.hp1 HG02523.hp1 HG02630.hp2 others(2): Show |
intron_variant | MODIFIER | c.1101+1122G>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 12/20 | chr12 | 15656957 | |||||||
| chr12:15656991 | C | A | 3 | a0001c0002t0005g0014 a0001c0005t0005g0033 a0001c0005t0005g0043 |
3 | HG02451.hp1 HG02630.hp1 HG03139.hp1 |
intron_variant | MODIFIER | c.1101+1088G>T | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 12/20 | chr12 | 15656991 | |||||||
| chr12:15657011 | A | G | 2 | a0002c0004t0001g0062 a0002c0004t0001g0079 |
2 | HG02630.hp2 HG03041.hp2 |
intron_variant | MODIFIER | c.1101+1068T>C | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 12/20 | chr12 | 15657011 | |||||||
| chr12:15657100 | A | G | 3 | a0001c0001t0002g0009 a0001c0001t0002g0012 a0001c0001t0002g0013 |
3 | HG01891.hp1 HG02886.hp1 HG03098.hp1 |
intron_variant | MODIFIER | c.1101+979T>C | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 12/20 | chr12 | 15657100 | |||||||
| chr12:15657250 | C | G | 5 | a0001c0003t0004g0030 a0001c0003t0004g0031 a0001c0003t0004g0039 others(2): Show |
5 | HG02109.hp2 HG02622.hp2 HG03130.hp2 others(2): Show |
intron_variant | MODIFIER | c.1101+829G>C | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 12/20 | chr12 | 15657250 | |||||||
| chr12:15657263 | G | A | 3 | a0001c0001t0001g0011 a0001c0001t0001g0020 a0001c0001t0001g0059 |
3 | HG01261.hp2 HG03471.hp1 NA18906.hp2 |
intron_variant | MODIFIER | c.1101+816C>T | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 12/20 | chr12 | 15657263 | |||||||
| chr12:15657442 | G | A | 1 | a0001c0001t0001g0024 | 1 | HG00733.hp2 | intron_variant | MODIFIER | c.1101+637C>T | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 12/20 | chr12 | 15657442 | |||||||
| chr12:15657764 | C | T | 1 | a0002c0004t0001g0081 | 1 | NA18944.hp1 | intron_variant | MODIFIER | c.1101+315G>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 12/20 | chr12 | 15657764 | |||||||
| chr12:15657778 | C | G | 1 | a0001c0001t0002g0026 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.1101+301G>C | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 12/20 | chr12 | 15657778 | |||||||
| chr12:15657847 | T | C | 1 | a0001c0001t0001g0096 | 1 | HG01256.hp1 | intron_variant | MODIFIER | c.1101+232A>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 12/20 | chr12 | 15657847 | |||||||
| chr12:15657961 | G | T | 2 | a0001c0001t0002g0012 a0001c0001t0002g0013 |
2 | HG02886.hp1 HG03098.hp1 |
intron_variant | MODIFIER | c.1101+118C>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 12/20 | chr12 | 15657961 | |||||||
| chr12:15658308 | T | C | 2 | a0001c0001t0001g0005 a0001c0001t0001g0086 |
2 | HG02300.hp1 HG03831.hp2 |
intron_variant | MODIFIER | c.1027-155A>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 11/20 | chr12 | 15658308 | |||||||
| chr12:15658717 | C | T | 1 | a0001c0001t0001g0036 | 1 | HG02965.hp1 | intron_variant | MODIFIER | c.938-132G>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 10/20 | chr12 | 15658717 | |||||||
| chr12:15658771 | G | A | 2 | a0001c0001t0001g0025 a0001c0001t0001g0056 |
2 | HG00597.hp2 HG02132.hp1 |
intron_variant | MODIFIER | c.938-186C>T | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 10/20 | chr12 | 15658771 | |||||||
| chr12:15659070 | T | C | 5 | a0001c0003t0004g0030 a0001c0003t0004g0031 a0001c0003t0004g0039 others(2): Show |
5 | HG02109.hp2 HG02622.hp2 HG03130.hp2 others(2): Show |
intron_variant | MODIFIER | c.938-485A>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 10/20 | chr12 | 15659070 | |||||||
| chr12:15659243 | A | G | 4 | a0001c0001t0001g0029 a0001c0001t0001g0060 a0001c0001t0001g0082 others(1): Show |
4 | HG00738.hp1 HG01071.hp1 HG02300.hp2 others(1): Show |
intron_variant | MODIFIER | c.938-658T>C | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 10/20 | chr12 | 15659243 | |||||||
| chr12:15659254 | C | T | 45 | a0001c0001t0001g0005 a0001c0001t0001g0016 a0001c0001t0001g0017 others(42): Show |
45 | HG00597.hp1 HG00621.hp1 HG00621.hp2 others(42): Show |
intron_variant | MODIFIER | c.938-669G>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 10/20 | chr12 | 15659254 | |||||||
| chr12:15659641 | C | T | 67 | a0001c0001t0001g0005 a0001c0001t0001g0016 a0001c0001t0001g0017 others(64): Show |
67 | HG00597.hp1 HG00621.hp1 HG00621.hp2 others(64): Show |
intron_variant | MODIFIER | c.937+973G>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 10/20 | chr12 | 15659641 | |||||||
| chr12:15659713 | A | G | 69 | a0001c0001t0001g0005 a0001c0001t0001g0016 a0001c0001t0001g0017 others(66): Show |
69 | HG00597.hp1 HG00621.hp1 HG00621.hp2 others(66): Show |
intron_variant | MODIFIER | c.937+901T>C | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 10/20 | chr12 | 15659713 | |||||||
| chr12:15659728 | T | A | 3 | a0001c0001t0002g0009 a0001c0001t0002g0012 a0001c0001t0002g0013 |
3 | HG01891.hp1 HG02886.hp1 HG03098.hp1 |
intron_variant | MODIFIER | c.937+886A>T | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 10/20 | chr12 | 15659728 | |||||||
| chr12:15659853 | C | T | 1 | a0001c0001t0002g0026 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.937+761G>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 10/20 | chr12 | 15659853 | |||||||
| chr12:15659864 | G | A | 10 | a0001c0002t0001g0006 a0001c0002t0001g0032 a0001c0002t0001g0069 others(7): Show |
10 | HG02055.hp1 HG02109.hp2 HG02622.hp2 others(7): Show |
intron_variant | MODIFIER | c.937+750C>T | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 10/20 | chr12 | 15659864 | |||||||
| chr12:15659988 | T | C | 6 | a0001c0001t0002g0026 a0001c0010t0004g0007 a0002c0004t0001g0062 others(3): Show |
6 | HG02258.hp1 HG02523.hp1 HG02630.hp2 others(3): Show |
intron_variant | MODIFIER | c.937+626A>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 10/20 | chr12 | 15659988 | |||||||
| chr12:15660238 | T | C | 99 | a0001c0001t0001g0005 a0001c0001t0001g0011 a0001c0001t0001g0016 others(96): Show |
99 | HG00597.hp1 HG00597.hp2 HG00621.hp1 others(96): Show |
intron_variant | MODIFIER | c.937+376A>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 10/20 | chr12 | 15660238 | |||||||
| chr12:15660244 | T | A | 99 | a0001c0001t0001g0005 a0001c0001t0001g0011 a0001c0001t0001g0016 others(96): Show |
99 | HG00597.hp1 HG00597.hp2 HG00621.hp1 others(96): Show |
intron_variant | MODIFIER | c.937+370A>T | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 10/20 | chr12 | 15660244 | |||||||
| chr12:15660873 | A | G | 2 | a0001c0001t0001g0025 a0001c0001t0001g0056 |
2 | HG00597.hp2 HG02132.hp1 |
intron_variant | MODIFIER | c.811-133T>C | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 9/20 | chr12 | 15660873 | |||||||
| chr12:15660971 | A | G | 4 | a0002c0004t0001g0062 a0002c0004t0001g0079 a0002c0004t0001g0081 others(1): Show |
4 | HG02523.hp1 HG02630.hp2 HG03041.hp2 others(1): Show |
intron_variant | MODIFIER | c.811-231T>C | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 9/20 | chr12 | 15660971 | |||||||
| chr12:15660979 | T | C | 22 | a0001c0002t0001g0008 a0001c0002t0001g0010 a0001c0002t0001g0034 others(19): Show |
22 | HG01109.hp2 HG02055.hp2 HG02109.hp1 others(19): Show |
intron_variant | MODIFIER | c.811-239A>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 9/20 | chr12 | 15660979 | |||||||
| chr12:15660985 | C | T | 1 | a0001c0002t0001g0006 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.811-245G>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 9/20 | chr12 | 15660985 | |||||||
| chr12:15661344 | T | C | 3 | a0001c0001t0002g0009 a0001c0001t0002g0012 a0001c0001t0002g0013 |
3 | HG01891.hp1 HG02886.hp1 HG03098.hp1 |
intron_variant | MODIFIER | c.811-604A>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 9/20 | chr12 | 15661344 | |||||||
| chr12:15661347 | G | C | 1 | a0001c0001t0002g0022 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.811-607C>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 9/20 | chr12 | 15661347 | |||||||
| chr12:15661355 | C | G | 1 | a0001c0001t0001g0099 | 1 | NA18944.hp2 | intron_variant | MODIFIER | c.811-615G>C | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 9/20 | chr12 | 15661355 | |||||||
| chr12:15661575 | T | A | 2 | a0001c0001t0001g0025 a0001c0001t0001g0056 |
2 | HG00597.hp2 HG02132.hp1 |
intron_variant | MODIFIER | c.810+451A>T | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 9/20 | chr12 | 15661575 | |||||||
| chr12:15661824 | T | C | 44 | a0001c0001t0001g0005 a0001c0001t0001g0016 a0001c0001t0001g0017 others(41): Show |
44 | HG00597.hp1 HG00621.hp1 HG00621.hp2 others(41): Show |
intron_variant | MODIFIER | c.810+202A>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 9/20 | chr12 | 15661824 | |||||||
| chr12:15661867 | T | C | 6 | a0001c0001t0002g0026 a0001c0010t0004g0007 a0002c0004t0001g0062 others(3): Show |
6 | HG02258.hp1 HG02523.hp1 HG02630.hp2 others(3): Show |
intron_variant | MODIFIER | c.810+159A>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 9/20 | chr12 | 15661867 | |||||||
| chr12:15662597 | A | T | 1 | a0001c0009t0001g0088 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.737-498T>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 8/20 | chr12 | 15662597 | |||||||
| chr12:15662720 | TG | T | 45 | a0001c0001t0001g0005 a0001c0001t0001g0016 a0001c0001t0001g0017 others(42): Show |
45 | HG00597.hp1 HG00621.hp1 HG00621.hp2 others(42): Show |
intron_variant | MODIFIER | c.737-622delC | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 8/20 | chr12 | 15662720 | |||||||
| chr12:15662728 | A | G | 3 | a0001c0002t0005g0014 a0001c0005t0005g0033 a0001c0005t0005g0043 |
3 | HG02451.hp1 HG02630.hp1 HG03139.hp1 |
intron_variant | MODIFIER | c.737-629T>C | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 8/20 | chr12 | 15662728 | |||||||
| chr12:15662803 | A | C | 66 | a0001c0001t0001g0005 a0001c0001t0001g0016 a0001c0001t0001g0017 others(63): Show |
66 | HG00597.hp1 HG00621.hp1 HG00621.hp2 others(63): Show |
intron_variant | MODIFIER | c.737-704T>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 8/20 | chr12 | 15662803 | |||||||
| chr12:15662853 | C | T | 10 | a0001c0002t0001g0006 a0001c0002t0001g0032 a0001c0002t0001g0069 others(7): Show |
10 | HG02055.hp1 HG02109.hp2 HG02622.hp2 others(7): Show |
intron_variant | MODIFIER | c.737-754G>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 8/20 | chr12 | 15662853 | |||||||
| chr12:15662946 | T | C | 3 | a0001c0001t0002g0009 a0001c0001t0002g0012 a0001c0001t0002g0013 |
3 | HG01891.hp1 HG02886.hp1 HG03098.hp1 |
intron_variant | MODIFIER | c.737-847A>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 8/20 | chr12 | 15662946 | |||||||
| chr12:15662999 | CA | C | 85 | a0001c0001t0001g0005 a0001c0001t0001g0011 a0001c0001t0001g0016 others(82): Show |
85 | HG00597.hp1 HG00597.hp2 HG00621.hp1 others(82): Show |
intron_variant | MODIFIER | c.737-901delT | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 8/20 | chr12 | 15662999 | |||||||
| chr12:15663101 | C | G | 3 | a0001c0001t0001g0011 a0001c0001t0001g0020 a0001c0001t0001g0059 |
3 | HG01261.hp2 HG03471.hp1 NA18906.hp2 |
intron_variant | MODIFIER | c.737-1002G>C | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 8/20 | chr12 | 15663101 | |||||||
| chr12:15663202 | C | A | 2 | a0001c0002t0003g0001 a0001c0002t0003g0002 |
2 | HG01109.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.737-1103G>T | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 8/20 | chr12 | 15663202 | |||||||
| chr12:15663237 | C | T | 4 | a0002c0004t0001g0062 a0002c0004t0001g0079 a0002c0004t0001g0081 others(1): Show |
4 | HG02523.hp1 HG02630.hp2 HG03041.hp2 others(1): Show |
intron_variant | MODIFIER | c.737-1138G>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 8/20 | chr12 | 15663237 | |||||||
| chr12:15663249 | G | T | 72 | a0001c0001t0001g0005 a0001c0001t0001g0016 a0001c0001t0001g0017 others(69): Show |
72 | HG00597.hp1 HG00621.hp1 HG00621.hp2 others(69): Show |
intron_variant | MODIFIER | c.737-1150C>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 8/20 | chr12 | 15663249 | |||||||
| chr12:15663356 | G | A | 72 | a0001c0001t0001g0005 a0001c0001t0001g0016 a0001c0001t0001g0017 others(69): Show |
72 | HG00597.hp1 HG00621.hp1 HG00621.hp2 others(69): Show |
intron_variant | MODIFIER | c.737-1257C>T | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 8/20 | chr12 | 15663356 | |||||||
| chr12:15663376 | A | G | 99 | a0001c0001t0001g0005 a0001c0001t0001g0011 a0001c0001t0001g0016 others(96): Show |
99 | HG00597.hp1 HG00597.hp2 HG00621.hp1 others(96): Show |
intron_variant | MODIFIER | c.737-1277T>C | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 8/20 | chr12 | 15663376 | |||||||
| chr12:15663570 | C | T | 1 | a0001c0001t0001g0024 | 1 | HG00733.hp2 | intron_variant | MODIFIER | c.737-1471G>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 8/20 | chr12 | 15663570 | |||||||
| chr12:15663658 | C | A | 1 | a0001c0001t0001g0064 | 1 | HG01071.hp2 | intron_variant | MODIFIER | c.737-1559G>T | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 8/20 | chr12 | 15663658 | |||||||
| chr12:15663706 | C | T | 2 | a0001c0001t0001g0019 a0001c0001t0003g0004 |
2 | HG02622.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.737-1607G>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 8/20 | chr12 | 15663706 | |||||||
| chr12:15663741 | A | G | 72 | a0001c0001t0001g0005 a0001c0001t0001g0016 a0001c0001t0001g0017 others(69): Show |
72 | HG00597.hp1 HG00621.hp1 HG00621.hp2 others(69): Show |
intron_variant | MODIFIER | c.737-1642T>C | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 8/20 | chr12 | 15663741 | |||||||
| chr12:15663836 | C | T | 1 | a0001c0001t0002g0022 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.737-1737G>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 8/20 | chr12 | 15663836 | |||||||
| chr12:15663920 | CA | C | 11 | a0001c0001t0001g0020 a0001c0001t0001g0056 a0001c0002t0001g0037 others(8): Show |
11 | HG01261.hp2 HG02055.hp2 HG02132.hp1 others(8): Show |
intron_variant | MODIFIER | c.737-1822delT | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 8/20 | chr12 | 15663920 | |||||||
| chr12:15663934 | A | T | 1 | a0001c0002t0001g0047 | 1 | NA19062.hp1 | intron_variant | MODIFIER | c.736+1822T>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 8/20 | chr12 | 15663934 | |||||||
| chr12:15663935 | A | AATAATAA others(4): Show |
6 | a0001c0001t0001g0024 a0001c0001t0001g0085 a0001c0001t0001g0087 others(3): Show |
6 | HG00733.hp2 HG01261.hp1 HG02258.hp2 others(3): Show |
intron_variant | MODIFIER | c.736+1820_736+1821i others(13): Show |
EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 8/20 | chr12 | 15663935 | |||||||
| chr12:15663935 | A | ATAAT | 2 | a0001c0002t0001g0006 a0001c0002t0001g0053 |
2 | HG01884.hp2 HG02922.hp1 |
intron_variant | MODIFIER | c.736+1820_736+1821i others(6): Show |
EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 8/20 | chr12 | 15663935 | |||||||
| chr12:15663938 | A | AAATAATA others(5): Show |
1 | a0001c0001t0001g0102 | 1 | NA19063.hp1 | intron_variant | MODIFIER | c.736+1817_736+1818i others(14): Show |
EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 8/20 | chr12 | 15663938 | |||||||
| chr12:15663938 | A | AATAATAA others(1): Show |
5 | a0001c0001t0001g0021 a0001c0001t0001g0027 a0001c0001t0001g0036 others(2): Show |
5 | HG01256.hp2 HG01891.hp2 HG02145.hp2 others(2): Show |
intron_variant | MODIFIER | c.736+1817_736+1818i others(10): Show |
EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 8/20 | chr12 | 15663938 | |||||||
| chr12:15663938 | A | AATAATAA others(4): Show |
14 | a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0029 others(11): Show |
14 | HG00597.hp1 HG00738.hp1 HG00738.hp2 others(11): Show |
intron_variant | MODIFIER | c.736+1817_736+1818i others(13): Show |
EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 8/20 | chr12 | 15663938 | |||||||
| chr12:15663938 | A | ATAAT | 2 | a0001c0002t0008g0023 a0001c0002t0008g0051 |
2 | HG00733.hp1 HG03041.hp1 |
intron_variant | MODIFIER | c.736+1817_736+1818i others(6): Show |
EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 8/20 | chr12 | 15663938 | |||||||
| chr12:15663938 | A | ATAATAAT others(3): Show |
1 | a0001c0001t0003g0004 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.736+1817_736+1818i others(12): Show |
EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 8/20 | chr12 | 15663938 | |||||||
| chr12:15663938 | A | T | 16 | a0001c0001t0001g0024 a0001c0001t0001g0042 a0001c0001t0001g0064 others(13): Show |
16 | HG00733.hp2 HG01071.hp2 HG01261.hp1 others(13): Show |
intron_variant | MODIFIER | c.736+1818T>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 8/20 | chr12 | 15663938 | |||||||
| chr12:15663939 | A | ATT | 2 | a0002c0004t0001g0081 a0002c0004t0001g0098 |
2 | HG02523.hp1 NA18944.hp1 |
intron_variant | MODIFIER | c.736+1816_736+1817i others(4): Show |
EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 8/20 | chr12 | 15663939 | |||||||
| chr12:15663941 | A | AATAATAA others(4): Show |
8 | a0001c0001t0001g0005 a0001c0001t0001g0016 a0001c0001t0001g0082 others(5): Show |
8 | HG00621.hp1 HG00621.hp2 HG01243.hp2 others(5): Show |
intron_variant | MODIFIER | c.736+1814_736+1815i others(13): Show |
EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 8/20 | chr12 | 15663941 | |||||||
| chr12:15663941 | A | ATAATAAT others(3): Show |
3 | a0001c0001t0001g0018 a0001c0001t0001g0041 a0001c0001t0010g0049 |
3 | HG02717.hp2 NA19009.hp2 NA19063.hp2 |
intron_variant | MODIFIER | c.736+1814_736+1815i others(12): Show |
EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 8/20 | chr12 | 15663941 | |||||||
| chr12:15663941 | A | T | 46 | a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0021 others(43): Show |
46 | HG00597.hp1 HG00733.hp1 HG00733.hp2 others(43): Show |
intron_variant | MODIFIER | c.736+1815T>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 8/20 | chr12 | 15663941 | |||||||
| chr12:15663942 | A | T | 3 | a0001c0002t0005g0014 a0001c0005t0005g0033 a0001c0005t0005g0043 |
3 | HG02451.hp1 HG02630.hp1 HG03139.hp1 |
intron_variant | MODIFIER | c.736+1814T>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 8/20 | chr12 | 15663942 | |||||||
| chr12:15663944 | A | AAAAT | 4 | a0001c0002t0001g0032 a0001c0002t0001g0069 a0001c0002t0001g0077 others(1): Show |
4 | HG02055.hp1 HG03486.hp1 NA19030.hp1 others(1): Show |
intron_variant | MODIFIER | c.736+1811_736+1812i others(6): Show |
EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 8/20 | chr12 | 15663944 | |||||||
| chr12:15663944 | A | AATAATAA others(4): Show |
1 | a0001c0002t0001g0047 | 1 | NA19062.hp1 | intron_variant | MODIFIER | c.736+1811_736+1812i others(13): Show |
EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 8/20 | chr12 | 15663944 | |||||||
| chr12:15663944 | A | ATAAT | 2 | a0001c0003t0004g0031 a0001c0003t0004g0039 |
2 | HG02109.hp2 HG03130.hp2 |
intron_variant | MODIFIER | c.736+1811_736+1812i others(6): Show |
EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 8/20 | chr12 | 15663944 | |||||||
| chr12:15663944 | A | T | 60 | a0001c0001t0001g0005 a0001c0001t0001g0016 a0001c0001t0001g0017 others(57): Show |
60 | HG00597.hp1 HG00621.hp1 HG00621.hp2 others(57): Show |
intron_variant | MODIFIER | c.736+1812T>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 8/20 | chr12 | 15663944 | |||||||
| chr12:15663944 | AAATAATA others(3): Show |
A | 10 | a0001c0001t0001g0059 a0001c0002t0001g0008 a0001c0002t0001g0010 others(7): Show |
10 | HG01109.hp2 HG02109.hp1 HG02145.hp1 others(7): Show |
intron_variant | MODIFIER | c.736+1802_736+1811d others(12): Show |
EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 8/20 | chr12 | 15663944 | |||||||
| chr12:15663945 | A | T | 4 | a0001c0002t0001g0050 a0001c0002t0005g0014 a0001c0005t0005g0033 others(1): Show |
4 | HG02451.hp1 HG02630.hp1 HG02976.hp1 others(1): Show |
intron_variant | MODIFIER | c.736+1811T>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 8/20 | chr12 | 15663945 | |||||||
| chr12:15663945 | AATAATAT others(4): Show |
A | 1 | a0001c0001t0001g0011 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.736+1800_736+1810d others(13): Show |
EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 8/20 | chr12 | 15663945 | |||||||
| chr12:15663946 | ATAATATA others(5): Show |
A | 1 | a0001c0002t0001g0050 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.736+1798_736+1809d others(14): Show |
EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 8/20 | chr12 | 15663946 | |||||||
| chr12:15663947 | T | A | 3 | a0001c0002t0005g0014 a0001c0005t0005g0033 a0001c0005t0005g0043 |
3 | HG02451.hp1 HG02630.hp1 HG03139.hp1 |
intron_variant | MODIFIER | c.736+1809A>T | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 8/20 | chr12 | 15663947 | |||||||
| chr12:15663948 | A | T | 3 | a0001c0002t0005g0014 a0001c0005t0005g0033 a0001c0005t0005g0043 |
3 | HG02451.hp1 HG02630.hp1 HG03139.hp1 |
intron_variant | MODIFIER | c.736+1808T>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 8/20 | chr12 | 15663948 | |||||||
| chr12:15663948 | AATATATA others(3): Show |
A | 13 | a0001c0001t0001g0020 a0001c0002t0001g0034 a0001c0002t0001g0037 others(10): Show |
13 | HG01261.hp2 HG02055.hp2 HG02559.hp2 others(10): Show |
intron_variant | MODIFIER | c.736+1798_736+1807d others(12): Show |
EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 8/20 | chr12 | 15663948 | |||||||
| chr12:15663950 | T | TA | 11 | a0001c0001t0001g0042 a0001c0001t0001g0045 a0001c0001t0001g0064 others(8): Show |
11 | HG00733.hp1 HG01071.hp2 HG01256.hp1 others(8): Show |
intron_variant | MODIFIER | c.736+1805dupT | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 8/20 | chr12 | 15663950 | |||||||
| chr12:15663950 | T | TAATAATA others(3): Show |
1 | a0001c0001t0001g0101 | 1 | NA18978.hp2 | intron_variant | MODIFIER | c.736+1805_736+1806i others(12): Show |
EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 8/20 | chr12 | 15663950 | |||||||
| chr12:15663951 | A | AAT | 7 | a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0002t0001g0032 others(4): Show |
7 | HG01109.hp1 HG02886.hp1 HG03098.hp1 others(4): Show |
intron_variant | MODIFIER | c.736+1804_736+1805i others(4): Show |
EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 8/20 | chr12 | 15663951 | |||||||
| chr12:15663952 | T | A | 12 | a0001c0002t0001g0032 a0001c0002t0001g0069 a0001c0002t0001g0077 others(9): Show |
12 | HG01109.hp1 HG02055.hp1 HG02109.hp2 others(9): Show |
intron_variant | MODIFIER | c.736+1804A>T | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 8/20 | chr12 | 15663952 | |||||||
| chr12:15663953 | A | T | 7 | a0001c0002t0003g0003 a0001c0003t0004g0031 a0001c0003t0004g0039 others(4): Show |
7 | HG02055.hp1 HG02109.hp2 HG02523.hp1 others(4): Show |
intron_variant | MODIFIER | c.736+1803T>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 8/20 | chr12 | 15663953 | |||||||
| chr12:15663954 | T | A | 13 | a0001c0002t0001g0006 a0001c0002t0001g0053 a0001c0002t0003g0003 others(10): Show |
13 | HG00733.hp1 HG01884.hp2 HG02055.hp1 others(10): Show |
intron_variant | MODIFIER | c.736+1802A>T | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 8/20 | chr12 | 15663954 | |||||||
| chr12:15663955 | A | T | 1 | a0001c0003t0004g0030 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.736+1801T>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 8/20 | chr12 | 15663955 | |||||||
| chr12:15663956 | T | A | 3 | a0001c0002t0003g0001 a0001c0002t0003g0002 a0001c0003t0004g0030 |
3 | HG01109.hp1 HG02622.hp2 NA19240.hp2 |
intron_variant | MODIFIER | c.736+1800A>T | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 8/20 | chr12 | 15663956 | |||||||
| chr12:15663957 | AT | A | 10 | a0001c0001t0001g0059 a0001c0002t0001g0008 a0001c0002t0001g0010 others(7): Show |
10 | HG01109.hp2 HG02109.hp1 HG02145.hp1 others(7): Show |
intron_variant | MODIFIER | c.736+1798delA | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 8/20 | chr12 | 15663957 | |||||||
| chr12:15663972 | T | C | 1 | a0001c0001t0002g0022 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.736+1784A>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 8/20 | chr12 | 15663972 | |||||||
| chr12:15663974 | T | C | 18 | a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 others(15): Show |
18 | HG00597.hp1 HG01071.hp2 HG01243.hp2 others(15): Show |
intron_variant | MODIFIER | c.736+1782A>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 8/20 | chr12 | 15663974 | |||||||
| chr12:15663974 | T | TAC | 19 | a0001c0001t0001g0021 a0001c0001t0001g0029 a0001c0001t0001g0041 others(16): Show |
19 | HG00621.hp1 HG00621.hp2 HG00738.hp1 others(16): Show |
intron_variant | MODIFIER | c.736+1781_736+1782i others(4): Show |
EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 8/20 | chr12 | 15663974 | |||||||
| chr12:15663976 | T | C | 49 | a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 others(46): Show |
49 | HG00597.hp1 HG00621.hp1 HG00621.hp2 others(46): Show |
intron_variant | MODIFIER | c.736+1780A>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 8/20 | chr12 | 15663976 | |||||||
| chr12:15663976 | T | TAC | 2 | a0002c0004t0001g0062 a0002c0004t0001g0079 |
2 | HG02630.hp2 HG03041.hp2 |
intron_variant | MODIFIER | c.736+1778_736+1779d others(4): Show |
EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 8/20 | chr12 | 15663976 | |||||||
| chr12:15663976 | T | TACAC | 8 | a0001c0001t0001g0005 a0001c0001t0001g0024 a0001c0001t0001g0027 others(5): Show |
8 | HG00733.hp2 HG01891.hp2 HG02145.hp2 others(5): Show |
intron_variant | MODIFIER | c.736+1776_736+1779d others(6): Show |
EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 8/20 | chr12 | 15663976 | |||||||
| chr12:15663976 | T | TACACAC | 3 | a0001c0002t0005g0014 a0001c0005t0005g0033 a0001c0005t0005g0043 |
3 | HG02451.hp1 HG02630.hp1 HG03139.hp1 |
intron_variant | MODIFIER | c.736+1774_736+1779d others(8): Show |
EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 8/20 | chr12 | 15663976 | |||||||
| chr12:15663976 | T | TATATACA others(3): Show |
1 | a0001c0001t0001g0025 | 1 | HG00597.hp2 | intron_variant | MODIFIER | c.736+1779_736+1780i others(12): Show |
EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 8/20 | chr12 | 15663976 | |||||||
| chr12:15663976 | T | TATATATA others(5): Show |
1 | a0001c0001t0001g0056 | 1 | HG02132.hp1 | intron_variant | MODIFIER | c.736+1779_736+1780i others(14): Show |
EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 8/20 | chr12 | 15663976 | |||||||
| chr12:15664283 | AT | A | 6 | a0001c0001t0001g0020 a0001c0001t0001g0059 a0002c0004t0001g0062 others(3): Show |
6 | HG01261.hp2 HG02523.hp1 HG02630.hp2 others(3): Show |
intron_variant | MODIFIER | c.736+1472delA | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 8/20 | chr12 | 15664283 | |||||||
| chr12:15664627 | C | T | 4 | a0002c0004t0001g0062 a0002c0004t0001g0079 a0002c0004t0001g0081 others(1): Show |
4 | HG02523.hp1 HG02630.hp2 HG03041.hp2 others(1): Show |
intron_variant | MODIFIER | c.736+1129G>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 8/20 | chr12 | 15664627 | |||||||
| chr12:15664694 | A | G | 3 | a0001c0002t0001g0035 a0001c0002t0001g0075 a0001c0002t0001g0080 |
3 | HG02109.hp1 HG02451.hp2 HG03098.hp2 |
intron_variant | MODIFIER | c.736+1062T>C | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 8/20 | chr12 | 15664694 | |||||||
| chr12:15664699 | C | T | 19 | a0001c0001t0002g0009 a0001c0001t0002g0012 a0001c0001t0002g0013 others(16): Show |
19 | HG01109.hp1 HG01884.hp2 HG01891.hp1 others(16): Show |
intron_variant | MODIFIER | c.736+1057G>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 8/20 | chr12 | 15664699 | |||||||
| chr12:15664761 | C | T | 3 | a0001c0001t0002g0009 a0001c0001t0002g0012 a0001c0001t0002g0013 |
3 | HG01891.hp1 HG02886.hp1 HG03098.hp1 |
intron_variant | MODIFIER | c.736+995G>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 8/20 | chr12 | 15664761 | |||||||
| chr12:15664773 | G | A | 4 | a0002c0004t0001g0062 a0002c0004t0001g0079 a0002c0004t0001g0081 others(1): Show |
4 | HG02523.hp1 HG02630.hp2 HG03041.hp2 others(1): Show |
intron_variant | MODIFIER | c.736+983C>T | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 8/20 | chr12 | 15664773 | |||||||
| chr12:15664851 | A | G | 2 | a0001c0001t0001g0067 a0001c0001t0001g0068 |
2 | HG02559.hp1 HG03516.hp2 |
intron_variant | MODIFIER | c.736+905T>C | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 8/20 | chr12 | 15664851 | |||||||
| chr12:15664934 | T | C | 1 | a0001c0001t0002g0026 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.736+822A>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 8/20 | chr12 | 15664934 | |||||||
| chr12:15665001 | AG | A | 4 | a0002c0004t0001g0062 a0002c0004t0001g0079 a0002c0004t0001g0081 others(1): Show |
4 | HG02523.hp1 HG02630.hp2 HG03041.hp2 others(1): Show |
intron_variant | MODIFIER | c.736+754delC | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 8/20 | chr12 | 15665001 | |||||||
| chr12:15665334 | A | AT | 5 | a0001c0001t0002g0022 a0001c0002t0001g0032 a0001c0002t0001g0069 others(2): Show |
5 | HG01884.hp1 HG02055.hp1 HG03486.hp1 others(2): Show |
intron_variant | MODIFIER | c.736+421dupA | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 8/20 | chr12 | 15665334 | |||||||
| chr12:15665641 | T | C | 1 | a0001c0001t0002g0026 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.736+115A>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 8/20 | chr12 | 15665641 | |||||||
| chr12:15665682 | C | T | 1 | a0001c0001t0002g0026 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.736+74G>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 8/20 | chr12 | 15665682 | |||||||
| chr12:15665946 | T | A | 44 | a0001c0001t0001g0005 a0001c0001t0001g0016 a0001c0001t0001g0017 others(41): Show |
44 | HG00597.hp1 HG00621.hp1 HG00621.hp2 others(41): Show |
intron_variant | MODIFIER | c.600-54A>T | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 7/20 | chr12 | 15665946 | |||||||
| chr12:15666913 | A | G | 1 | a0001c0002t0001g0006 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.517-391T>C | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 6/20 | chr12 | 15666913 | |||||||
| chr12:15666955 | C | G | 3 | a0001c0002t0001g0078 a0001c0002t0003g0001 a0001c0002t0003g0002 |
3 | HG01109.hp1 HG02717.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.517-433G>C | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 6/20 | chr12 | 15666955 | |||||||
| chr12:15666976 | C | T | 2 | a0001c0001t0002g0022 a0001c0001t0002g0026 |
2 | HG01884.hp1 HG02258.hp1 |
intron_variant | MODIFIER | c.517-454G>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 6/20 | chr12 | 15666976 | |||||||
| chr12:15666979 | C | T | 2 | a0001c0001t0001g0060 a0001c0001t0001g0097 |
2 | HG01261.hp1 HG02300.hp2 |
intron_variant | MODIFIER | c.517-457G>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 6/20 | chr12 | 15666979 | |||||||
| chr12:15667134 | T | C | 2 | a0001c0005t0005g0033 a0001c0005t0005g0043 |
2 | HG02451.hp1 HG02630.hp1 |
intron_variant | MODIFIER | c.517-612A>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 6/20 | chr12 | 15667134 | |||||||
| chr12:15667212 | G | T | 13 | a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0060 others(10): Show |
13 | HG00597.hp2 HG00733.hp2 HG01884.hp1 others(10): Show |
intron_variant | MODIFIER | c.517-690C>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 6/20 | chr12 | 15667212 | |||||||
| chr12:15667233 | G | A | 1 | a0001c0001t0001g0060 | 1 | HG02300.hp2 | intron_variant | MODIFIER | c.517-711C>T | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 6/20 | chr12 | 15667233 | |||||||
| chr12:15667277 | G | A | 3 | a0001c0001t0001g0095 a0001c0002t0001g0047 a0001c0009t0001g0088 |
3 | HG03017.hp1 NA19062.hp1 NA19087.hp2 |
intron_variant | MODIFIER | c.517-755C>T | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 6/20 | chr12 | 15667277 | |||||||
| chr12:15667293 | T | C | 4 | a0001c0001t0001g0027 a0001c0001t0003g0004 a0001c0002t0001g0054 others(1): Show |
4 | HG01891.hp2 HG03139.hp1 NA18906.hp1 others(1): Show |
intron_variant | MODIFIER | c.517-771A>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 6/20 | chr12 | 15667293 | |||||||
| chr12:15667363 | T | C | 14 | a0001c0001t0001g0005 a0001c0001t0001g0020 a0001c0001t0001g0021 others(11): Show |
14 | HG01256.hp2 HG01261.hp2 HG02132.hp1 others(11): Show |
intron_variant | MODIFIER | c.517-841A>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 6/20 | chr12 | 15667363 | |||||||
| chr12:15667425 | A | C | 1 | a0001c0002t0001g0006 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.517-903T>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 6/20 | chr12 | 15667425 | |||||||
| chr12:15667474 | G | A | 92 | a0001c0001t0001g0005 a0001c0001t0001g0016 a0001c0001t0001g0017 others(89): Show |
92 | HG00597.hp1 HG00597.hp2 HG00621.hp1 others(89): Show |
intron_variant | MODIFIER | c.517-952C>T | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 6/20 | chr12 | 15667474 | |||||||
| chr12:15667609 | T | C | 3 | a0001c0001t0002g0022 a0001c0001t0002g0026 a0002c0004t0001g0081 |
3 | HG01884.hp1 HG02258.hp1 NA18944.hp1 |
intron_variant | MODIFIER | c.517-1087A>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 6/20 | chr12 | 15667609 | |||||||
| chr12:15667612 | T | C | 1 | a0001c0010t0004g0007 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.517-1090A>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 6/20 | chr12 | 15667612 | |||||||
| chr12:15667841 | G | A | 6 | a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 others(3): Show |
6 | HG00733.hp1 HG01243.hp2 HG02622.hp1 others(3): Show |
intron_variant | MODIFIER | c.517-1319C>T | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 6/20 | chr12 | 15667841 | |||||||
| chr12:15667991 | G | T | 1 | a0001c0002t0001g0006 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.516+1396C>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 6/20 | chr12 | 15667991 | |||||||
| chr12:15668181 | A | G | 12 | a0001c0001t0002g0009 a0001c0001t0002g0012 a0001c0001t0002g0013 others(9): Show |
12 | HG01109.hp1 HG01891.hp1 HG02258.hp2 others(9): Show |
intron_variant | MODIFIER | c.516+1206T>C | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 6/20 | chr12 | 15668181 | |||||||
| chr12:15668222 | T | C | 5 | a0001c0002t0001g0006 a0001c0002t0001g0008 a0001c0002t0001g0010 others(2): Show |
5 | HG01109.hp2 HG02055.hp2 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.516+1165A>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 6/20 | chr12 | 15668222 | |||||||
| chr12:15668253 | C | A | 1 | a0001c0002t0001g0048 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.516+1134G>T | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 6/20 | chr12 | 15668253 | |||||||
| chr12:15668253 | C | T | 2 | a0001c0001t0001g0029 a0004c0008t0001g0028 |
2 | HG00738.hp1 HG01071.hp1 |
intron_variant | MODIFIER | c.516+1134G>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 6/20 | chr12 | 15668253 | |||||||
| chr12:15668679 | A | G | 8 | a0001c0001t0001g0005 a0001c0001t0001g0021 a0001c0001t0001g0042 others(5): Show |
8 | HG01256.hp2 HG02132.hp1 HG02300.hp1 others(5): Show |
intron_variant | MODIFIER | c.516+708T>C | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 6/20 | chr12 | 15668679 | |||||||
| chr12:15668780 | T | C | 5 | a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 others(2): Show |
5 | HG00733.hp1 HG01243.hp2 HG02622.hp1 others(2): Show |
intron_variant | MODIFIER | c.516+607A>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 6/20 | chr12 | 15668780 | |||||||
| chr12:15668944 | T | C | 5 | a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 others(2): Show |
5 | HG00733.hp1 HG01243.hp2 HG02622.hp1 others(2): Show |
intron_variant | MODIFIER | c.516+443A>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 6/20 | chr12 | 15668944 | |||||||
| chr12:15669295 | A | C | 98 | a0001c0001t0001g0005 a0001c0001t0001g0011 a0001c0001t0001g0016 others(95): Show |
98 | HG00597.hp1 HG00597.hp2 HG00621.hp1 others(95): Show |
intron_variant | MODIFIER | c.516+92T>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 6/20 | chr12 | 15669295 | |||||||
| chr12:15669310 | T | C | 62 | a0001c0001t0001g0005 a0001c0001t0001g0011 a0001c0001t0001g0020 others(59): Show |
62 | HG00597.hp1 HG00621.hp1 HG00621.hp2 others(59): Show |
intron_variant | MODIFIER | c.516+77A>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 6/20 | chr12 | 15669310 | |||||||
| chr12:15669381 | T | C | 10 | a0001c0001t0001g0024 a0001c0001t0001g0036 a0001c0001t0001g0038 others(7): Show |
10 | HG00733.hp2 HG02145.hp2 HG02559.hp2 others(7): Show |
splice_region_variant&intron_variant | LOW | c.516+6A>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 6/20 | chr12 | 15669381 | |||||||
| chr12:15669833 | T | C | 1 | a0001c0001t0001g0029 | 1 | HG01071.hp1 | splice_region_variant&intron_variant | LOW | c.205-8A>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 4/20 | chr12 | 15669833 | |||||||
| chr12:15670167 | T | C | 5 | a0001c0002t0001g0006 a0001c0002t0001g0008 a0001c0002t0001g0010 others(2): Show |
5 | HG01109.hp2 HG02055.hp2 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.205-342A>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 4/20 | chr12 | 15670167 | |||||||
| chr12:15670679 | C | T | 8 | a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 others(5): Show |
8 | HG00733.hp1 HG01243.hp2 HG01884.hp1 others(5): Show |
intron_variant | MODIFIER | c.204+177G>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 4/20 | chr12 | 15670679 | |||||||
| chr12:15671298 | A | C | 1 | a0001c0001t0001g0090 | 1 | HG00738.hp2 | intron_variant | MODIFIER | c.137-375T>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 3/20 | chr12 | 15671298 | |||||||
| chr12:15671485 | A | G | 25 | a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0036 others(22): Show |
25 | HG00597.hp2 HG00733.hp2 HG01109.hp1 others(22): Show |
intron_variant | MODIFIER | c.137-562T>C | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 3/20 | chr12 | 15671485 | |||||||
| chr12:15671681 | C | T | 1 | a0001c0002t0001g0006 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.137-758G>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 3/20 | chr12 | 15671681 | |||||||
| chr12:15671887 | T | A | 1 | a0001c0001t0001g0059 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.137-964A>T | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 3/20 | chr12 | 15671887 | |||||||
| chr12:15671904 | C | T | 25 | a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0036 others(22): Show |
25 | HG00597.hp2 HG00733.hp2 HG01109.hp1 others(22): Show |
intron_variant | MODIFIER | c.137-981G>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 3/20 | chr12 | 15671904 | |||||||
| chr12:15671940 | G | A | 12 | a0001c0001t0001g0024 a0001c0001t0001g0036 a0001c0001t0001g0038 others(9): Show |
12 | HG00733.hp2 HG01891.hp1 HG02145.hp2 others(9): Show |
intron_variant | MODIFIER | c.137-1017C>T | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 3/20 | chr12 | 15671940 | |||||||
| chr12:15672967 | T | C | 8 | a0001c0001t0001g0005 a0001c0001t0001g0021 a0001c0001t0001g0042 others(5): Show |
8 | HG01256.hp2 HG02132.hp1 HG02300.hp1 others(5): Show |
intron_variant | MODIFIER | c.137-2044A>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 3/20 | chr12 | 15672967 | |||||||
| chr12:15673102 | A | G | 65 | a0001c0001t0001g0005 a0001c0001t0001g0011 a0001c0001t0001g0020 others(62): Show |
65 | HG00597.hp1 HG00621.hp1 HG00621.hp2 others(62): Show |
intron_variant | MODIFIER | c.137-2179T>C | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 3/20 | chr12 | 15673102 | |||||||
| chr12:15673315 | TTATAAA | T | 6 | a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0009g0058 others(3): Show |
6 | HG01109.hp1 HG02258.hp2 HG02886.hp1 others(3): Show |
intron_variant | MODIFIER | c.137-2398_137-2393d others(8): Show |
EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 3/20 | chr12 | 15673315 | |||||||
| chr12:15673703 | G | T | 1 | a0001c0002t0005g0014 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.137-2780C>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 3/20 | chr12 | 15673703 | |||||||
| chr12:15673715 | C | G | 25 | a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0036 others(22): Show |
25 | HG00597.hp2 HG00733.hp2 HG01109.hp1 others(22): Show |
intron_variant | MODIFIER | c.137-2792G>C | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 3/20 | chr12 | 15673715 | |||||||
| chr12:15673729 | T | C | 62 | a0001c0001t0001g0005 a0001c0001t0001g0011 a0001c0001t0001g0020 others(59): Show |
62 | HG00597.hp1 HG00621.hp1 HG00621.hp2 others(59): Show |
intron_variant | MODIFIER | c.137-2806A>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 3/20 | chr12 | 15673729 | |||||||
| chr12:15673749 | T | C | 5 | a0001c0002t0001g0006 a0001c0002t0001g0008 a0001c0002t0001g0010 others(2): Show |
5 | HG01109.hp2 HG02055.hp2 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.137-2826A>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 3/20 | chr12 | 15673749 | |||||||
| chr12:15674203 | C | T | 1 | a0001c0001t0001g0056 | 1 | HG02132.hp1 | intron_variant | MODIFIER | c.137-3280G>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 3/20 | chr12 | 15674203 | |||||||
| chr12:15674312 | A | G | 6 | a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0009g0058 others(3): Show |
6 | HG01109.hp1 HG02258.hp2 HG02886.hp1 others(3): Show |
intron_variant | MODIFIER | c.137-3389T>C | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 3/20 | chr12 | 15674312 | |||||||
| chr12:15674787 | T | C | 1 | a0001c0002t0005g0014 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.137-3864A>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 3/20 | chr12 | 15674787 | |||||||
| chr12:15674852 | T | TA | 98 | a0001c0001t0001g0005 a0001c0001t0001g0011 a0001c0001t0001g0016 others(95): Show |
98 | HG00597.hp1 HG00597.hp2 HG00621.hp1 others(95): Show |
intron_variant | MODIFIER | c.137-3930dupT | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 3/20 | chr12 | 15674852 | |||||||
| chr12:15674878 | T | C | 90 | a0001c0001t0001g0005 a0001c0001t0001g0011 a0001c0001t0001g0020 others(87): Show |
90 | HG00597.hp1 HG00597.hp2 HG00621.hp1 others(87): Show |
intron_variant | MODIFIER | c.137-3955A>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 3/20 | chr12 | 15674878 | |||||||
| chr12:15675406 | C | T | 6 | a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0009g0058 others(3): Show |
6 | HG01109.hp1 HG02258.hp2 HG02886.hp1 others(3): Show |
intron_variant | MODIFIER | c.137-4483G>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 3/20 | chr12 | 15675406 | |||||||
| chr12:15676005 | G | A | 12 | a0001c0001t0001g0024 a0001c0001t0001g0036 a0001c0001t0001g0038 others(9): Show |
12 | HG00733.hp2 HG01891.hp1 HG02145.hp2 others(9): Show |
intron_variant | MODIFIER | c.137-5082C>T | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 3/20 | chr12 | 15676005 | |||||||
| chr12:15676259 | C | CA | 11 | a0001c0001t0001g0005 a0001c0001t0001g0042 a0001c0001t0001g0045 others(8): Show |
11 | HG02145.hp1 HG02300.hp2 HG02559.hp1 others(8): Show |
intron_variant | MODIFIER | c.136+4966dupT | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 3/20 | chr12 | 15676259 | |||||||
| chr12:15676259 | CAA | C | 5 | a0001c0002t0001g0006 a0001c0002t0001g0008 a0001c0002t0001g0010 others(2): Show |
5 | HG01109.hp2 HG02055.hp2 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.136+4965_136+4966d others(4): Show |
EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 3/20 | chr12 | 15676259 | |||||||
| chr12:15676473 | T | A | 1 | a0001c0001t0001g0056 | 1 | HG02132.hp1 | intron_variant | MODIFIER | c.136+4753A>T | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 3/20 | chr12 | 15676473 | |||||||
| chr12:15676509 | C | T | 1 | a0001c0001t0001g0025 | 1 | HG00597.hp2 | intron_variant | MODIFIER | c.136+4717G>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 3/20 | chr12 | 15676509 | |||||||
| chr12:15676549 | C | A | 13 | a0001c0001t0001g0045 a0001c0001t0001g0085 a0001c0001t0001g0090 others(10): Show |
13 | HG00597.hp1 HG00621.hp1 HG00621.hp2 others(10): Show |
intron_variant | MODIFIER | c.136+4677G>T | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 3/20 | chr12 | 15676549 | |||||||
| chr12:15677068 | C | G | 1 | a0001c0002t0001g0053 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.136+4158G>C | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 3/20 | chr12 | 15677068 | |||||||
| chr12:15677114 | T | C | 1 | a0001c0001t0001g0067 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.136+4112A>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 3/20 | chr12 | 15677114 | |||||||
| chr12:15677176 | A | C | 13 | a0001c0001t0001g0024 a0001c0001t0001g0036 a0001c0001t0001g0038 others(10): Show |
13 | HG00733.hp2 HG01891.hp1 HG02145.hp2 others(10): Show |
intron_variant | MODIFIER | c.136+4050T>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 3/20 | chr12 | 15677176 | |||||||
| chr12:15677278 | G | A | 2 | a0001c0001t0003g0004 a0001c0002t0001g0054 |
2 | NA18906.hp1 NA19043.hp2 |
intron_variant | MODIFIER | c.136+3948C>T | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 3/20 | chr12 | 15677278 | |||||||
| chr12:15677392 | A | G | 57 | a0001c0001t0001g0011 a0001c0001t0001g0020 a0001c0001t0001g0027 others(54): Show |
57 | HG00597.hp1 HG00621.hp1 HG00621.hp2 others(54): Show |
intron_variant | MODIFIER | c.136+3834T>C | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 3/20 | chr12 | 15677392 | |||||||
| chr12:15677549 | T | C | 8 | a0001c0001t0001g0005 a0001c0001t0001g0021 a0001c0001t0001g0042 others(5): Show |
8 | HG01256.hp2 HG02132.hp1 HG02300.hp1 others(5): Show |
intron_variant | MODIFIER | c.136+3677A>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 3/20 | chr12 | 15677549 | |||||||
| chr12:15678178 | A | T | 1 | a0001c0001t0001g0024 | 1 | HG00733.hp2 | intron_variant | MODIFIER | c.136+3048T>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 3/20 | chr12 | 15678178 | |||||||
| chr12:15678573 | C | T | 59 | a0001c0001t0001g0011 a0001c0001t0001g0020 a0001c0001t0001g0027 others(56): Show |
59 | HG00597.hp1 HG00621.hp1 HG00621.hp2 others(56): Show |
intron_variant | MODIFIER | c.136+2653G>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 3/20 | chr12 | 15678573 | |||||||
| chr12:15678796 | C | T | 57 | a0001c0001t0001g0011 a0001c0001t0001g0020 a0001c0001t0001g0027 others(54): Show |
57 | HG00597.hp1 HG00621.hp1 HG00621.hp2 others(54): Show |
intron_variant | MODIFIER | c.136+2430G>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 3/20 | chr12 | 15678796 | |||||||
| chr12:15678914 | C | CA | 23 | a0001c0001t0001g0024 a0001c0001t0001g0036 a0001c0001t0001g0038 others(20): Show |
23 | HG00733.hp2 HG00738.hp2 HG01109.hp1 others(20): Show |
intron_variant | MODIFIER | c.136+2311dupT | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 3/20 | chr12 | 15678914 | |||||||
| chr12:15678971 | C | T | 23 | a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0036 others(20): Show |
23 | HG00597.hp2 HG00733.hp2 HG01109.hp1 others(20): Show |
intron_variant | MODIFIER | c.136+2255G>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 3/20 | chr12 | 15678971 | |||||||
| chr12:15679154 | C | T | 1 | a0001c0001t0001g0085 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.136+2072G>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 3/20 | chr12 | 15679154 | |||||||
| chr12:15679206 | A | G | 67 | a0001c0001t0001g0005 a0001c0001t0001g0011 a0001c0001t0001g0020 others(64): Show |
67 | HG00597.hp1 HG00621.hp1 HG00621.hp2 others(64): Show |
intron_variant | MODIFIER | c.136+2020T>C | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 3/20 | chr12 | 15679206 | |||||||
| chr12:15679618 | C | T | 2 | a0001c0001t0001g0036 a0001c0001t0001g0038 |
2 | HG02145.hp2 HG02965.hp1 |
intron_variant | MODIFIER | c.136+1608G>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 3/20 | chr12 | 15679618 | |||||||
| chr12:15679827 | T | C | 17 | a0001c0001t0001g0027 a0001c0001t0001g0041 a0001c0001t0003g0004 others(14): Show |
17 | HG01891.hp2 HG02055.hp1 HG02109.hp1 others(14): Show |
intron_variant | MODIFIER | c.136+1399A>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 3/20 | chr12 | 15679827 | |||||||
| chr12:15679884 | A | G | 1 | a0001c0001t0001g0025 | 1 | HG00597.hp2 | intron_variant | MODIFIER | c.136+1342T>C | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 3/20 | chr12 | 15679884 | |||||||
| chr12:15680629 | T | C | 1 | a0001c0002t0005g0014 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.136+597A>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 3/20 | chr12 | 15680629 | |||||||
| chr12:15680654 | A | ATCT | 13 | a0001c0001t0001g0024 a0001c0001t0001g0036 a0001c0001t0001g0038 others(10): Show |
13 | HG00733.hp2 HG01891.hp1 HG02145.hp2 others(10): Show |
intron_variant | MODIFIER | c.136+571_136+572ins others(3): Show |
EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 3/20 | chr12 | 15680654 | |||||||
| chr12:15681305 | G | GTAA | 12 | a0001c0001t0001g0024 a0001c0001t0001g0036 a0001c0001t0001g0038 others(9): Show |
12 | HG00733.hp2 HG02145.hp2 HG02523.hp2 others(9): Show |
splice_region_variant&intron_variant | LOW | c.60-6_60-4dupTTA | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 2/20 | chr12 | 15681305 | |||||||
| chr12:15681305 | G | GTAATAA | 7 | a0001c0001t0001g0021 a0001c0001t0001g0025 a0001c0001t0001g0052 others(4): Show |
7 | HG00597.hp2 HG01256.hp2 HG01891.hp1 others(4): Show |
splice_region_variant&intron_variant | LOW | c.60-9_60-4dupTTATTA | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 2/20 | chr12 | 15681305 | |||||||
| chr12:15681305 | GTAATAA | G | 6 | a0001c0001t0001g0011 a0001c0002t0001g0006 a0001c0002t0001g0008 others(3): Show |
6 | HG01109.hp2 HG02055.hp2 HG02922.hp1 others(3): Show |
splice_region_variant&intron_variant | LOW | c.60-9_60-4delTTATTA | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 2/20 | chr12 | 15681305 | |||||||
| chr12:15681318 | T | A | 4 | a0001c0003t0004g0030 a0001c0003t0004g0031 a0001c0003t0004g0039 others(1): Show |
4 | HG02109.hp2 HG02622.hp2 HG03130.hp2 others(1): Show |
intron_variant | MODIFIER | c.60-16A>T | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 2/20 | chr12 | 15681318 | |||||||
| chr12:15681591 | G | A | 1 | a0001c0001t0009g0058 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.60-289C>T | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 2/20 | chr12 | 15681591 | |||||||
| chr12:15681716 | G | A | 3 | a0001c0003t0004g0030 a0001c0003t0004g0031 a0001c0003t0006g0044 |
3 | HG02622.hp2 HG03130.hp2 HG06807.hp2 |
intron_variant | MODIFIER | c.60-414C>T | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 2/20 | chr12 | 15681716 | |||||||
| chr12:15681728 | C | CA | 16 | a0001c0001t0001g0005 a0001c0001t0001g0019 a0001c0001t0001g0027 others(13): Show |
16 | HG00597.hp1 HG01891.hp2 HG02132.hp1 others(13): Show |
intron_variant | MODIFIER | c.60-427dupT | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 2/20 | chr12 | 15681728 | |||||||
| chr12:15681728 | C | CAA | 12 | a0001c0001t0001g0011 a0001c0001t0001g0021 a0001c0001t0001g0036 others(9): Show |
12 | HG01256.hp2 HG02559.hp2 HG02818.hp2 others(9): Show |
intron_variant | MODIFIER | c.60-428_60-427dupTT | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 2/20 | chr12 | 15681728 | |||||||
| chr12:15681728 | C | CAAA | 6 | a0001c0001t0001g0024 a0001c0001t0001g0038 a0001c0001t0002g0009 others(3): Show |
6 | HG00733.hp2 HG01891.hp1 HG02145.hp2 others(3): Show |
intron_variant | MODIFIER | c.60-429_60-427dupTT others(1): Show |
EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 2/20 | chr12 | 15681728 | |||||||
| chr12:15681728 | CA | C | 4 | a0001c0001t0003g0004 a0001c0002t0001g0040 a0001c0002t0001g0071 others(1): Show |
4 | HG02523.hp1 HG02965.hp2 HG02976.hp2 others(1): Show |
intron_variant | MODIFIER | c.60-427delT | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 2/20 | chr12 | 15681728 | |||||||
| chr12:15681888 | G | A | 4 | a0001c0001t0009g0058 a0001c0002t0003g0001 a0001c0002t0003g0002 others(1): Show |
4 | HG01109.hp1 HG02258.hp2 HG03471.hp2 others(1): Show |
intron_variant | MODIFIER | c.60-586C>T | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 2/20 | chr12 | 15681888 | |||||||
| chr12:15681896 | C | A | 7 | a0001c0001t0001g0011 a0001c0001t0001g0025 a0001c0002t0001g0006 others(4): Show |
7 | HG00597.hp2 HG01109.hp2 HG02055.hp2 others(4): Show |
intron_variant | MODIFIER | c.60-594G>T | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 2/20 | chr12 | 15681896 | |||||||
| chr12:15681901 | C | T | 58 | a0001c0001t0001g0020 a0001c0001t0001g0027 a0001c0001t0001g0029 others(55): Show |
58 | HG00597.hp1 HG00621.hp1 HG00621.hp2 others(55): Show |
intron_variant | MODIFIER | c.60-599G>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 2/20 | chr12 | 15681901 | |||||||
| chr12:15681942 | G | T | 1 | a0001c0002t0005g0014 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.60-640C>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 2/20 | chr12 | 15681942 | |||||||
| chr12:15682083 | A | G | 1 | a0001c0001t0001g0041 | 1 | NA19063.hp2 | intron_variant | MODIFIER | c.60-781T>C | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 2/20 | chr12 | 15682083 | |||||||
| chr12:15682176 | CTG | C | 3 | a0001c0005t0005g0033 a0001c0005t0005g0043 a0001c0007t0012g0015 |
3 | HG02451.hp1 HG02630.hp1 HG02818.hp1 |
intron_variant | MODIFIER | c.59+715_59+716delCA | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 2/20 | chr12 | 15682176 | |||||||
| chr12:15682364 | A | G | 1 | a0001c0001t0001g0024 | 1 | HG00733.hp2 | intron_variant | MODIFIER | c.59+529T>C | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 2/20 | chr12 | 15682364 | |||||||
| chr12:15682390 | A | G | 1 | a0001c0002t0005g0014 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.59+503T>C | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 2/20 | chr12 | 15682390 | |||||||
| chr12:15682496 | T | G | 1 | a0001c0002t0001g0055 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.59+397A>C | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 2/20 | chr12 | 15682496 | |||||||
| chr12:15682604 | T | C | 1 | a0001c0002t0001g0032 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.59+289A>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 2/20 | chr12 | 15682604 | |||||||
| chr12:15682770 | T | C | 1 | a0001c0001t0001g0042 | 1 | NA19009.hp1 | intron_variant | MODIFIER | c.59+123A>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 2/20 | chr12 | 15682770 | |||||||
| chr12:15683144 | T | G | 1 | a0001c0003t0006g0066 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.-21-172A>C | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15683144 | |||||||
| chr12:15683250 | T | C | 1 | a0001c0001t0001g0025 | 1 | HG00597.hp2 | intron_variant | MODIFIER | c.-21-278A>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15683250 | |||||||
| chr12:15683359 | A | C | 10 | a0001c0001t0001g0024 a0001c0001t0001g0036 a0001c0001t0001g0038 others(7): Show |
10 | HG00733.hp2 HG02145.hp2 HG02559.hp2 others(7): Show |
intron_variant | MODIFIER | c.-21-387T>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15683359 | |||||||
| chr12:15683454 | T | C | 8 | a0001c0001t0001g0005 a0001c0001t0001g0021 a0001c0001t0001g0042 others(5): Show |
8 | HG01256.hp2 HG02132.hp1 HG02300.hp1 others(5): Show |
intron_variant | MODIFIER | c.-21-482A>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15683454 | |||||||
| chr12:15683747 | CT | C | 13 | a0001c0001t0001g0011 a0001c0001t0001g0016 a0001c0001t0001g0017 others(10): Show |
13 | HG00733.hp1 HG01109.hp2 HG01243.hp2 others(10): Show |
intron_variant | MODIFIER | c.-21-776delA | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15683747 | |||||||
| chr12:15684036 | T | C | 2 | a0001c0001t0001g0029 a0004c0008t0001g0028 |
2 | HG00738.hp1 HG01071.hp1 |
intron_variant | MODIFIER | c.-21-1064A>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15684036 | |||||||
| chr12:15684091 | G | T | 3 | a0001c0002t0003g0001 a0001c0002t0003g0002 a0001c0010t0004g0007 |
3 | HG01109.hp1 HG03471.hp2 NA19240.hp2 |
intron_variant | MODIFIER | c.-21-1119C>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15684091 | |||||||
| chr12:15684147 | G | A | 3 | a0001c0005t0005g0033 a0001c0005t0005g0043 a0001c0007t0012g0015 |
3 | HG02451.hp1 HG02630.hp1 HG02818.hp1 |
intron_variant | MODIFIER | c.-21-1175C>T | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15684147 | |||||||
| chr12:15684284 | G | A | 9 | a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0002t0001g0034 others(6): Show |
9 | HG02145.hp2 HG02559.hp2 HG02818.hp2 others(6): Show |
intron_variant | MODIFIER | c.-21-1312C>T | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15684284 | |||||||
| chr12:15684367 | T | A | 14 | a0001c0001t0001g0045 a0001c0001t0001g0060 a0001c0001t0001g0085 others(11): Show |
14 | HG00597.hp1 HG00621.hp1 HG00621.hp2 others(11): Show |
intron_variant | MODIFIER | c.-21-1395A>T | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15684367 | |||||||
| chr12:15684474 | A | C | 10 | a0001c0001t0001g0024 a0001c0001t0001g0036 a0001c0001t0001g0038 others(7): Show |
10 | HG00733.hp2 HG02145.hp2 HG02559.hp2 others(7): Show |
intron_variant | MODIFIER | c.-21-1502T>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15684474 | |||||||
| chr12:15684625 | C | T | 3 | a0001c0005t0005g0033 a0001c0005t0005g0043 a0001c0007t0012g0015 |
3 | HG02451.hp1 HG02630.hp1 HG02818.hp1 |
intron_variant | MODIFIER | c.-21-1653G>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15684625 | |||||||
| chr12:15684804 | C | A | 21 | a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0036 others(18): Show |
21 | HG00597.hp2 HG00733.hp2 HG01109.hp1 others(18): Show |
intron_variant | MODIFIER | c.-21-1832G>T | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15684804 | |||||||
| chr12:15685149 | A | G | 2 | a0001c0002t0001g0073 a0001c0002t0001g0074 |
2 | HG02055.hp2 HG03139.hp2 |
intron_variant | MODIFIER | c.-21-2177T>C | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15685149 | |||||||
| chr12:15685220 | C | T | 98 | a0001c0001t0001g0005 a0001c0001t0001g0011 a0001c0001t0001g0016 others(95): Show |
98 | HG00597.hp1 HG00597.hp2 HG00621.hp1 others(95): Show |
intron_variant | MODIFIER | c.-21-2248G>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15685220 | |||||||
| chr12:15685568 | A | C | 1 | a0001c0002t0005g0014 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.-21-2596T>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15685568 | |||||||
| chr12:15685756 | G | A | 60 | a0001c0001t0001g0005 a0001c0001t0001g0020 a0001c0001t0001g0021 others(57): Show |
60 | HG00597.hp1 HG00597.hp2 HG00621.hp1 others(57): Show |
intron_variant | MODIFIER | c.-21-2784C>T | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15685756 | |||||||
| chr12:15686286 | G | A | 1 | a0001c0001t0001g0025 | 1 | HG00597.hp2 | intron_variant | MODIFIER | c.-21-3314C>T | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15686286 | |||||||
| chr12:15686460 | A | C | 14 | a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0002t0001g0034 others(11): Show |
14 | HG01109.hp1 HG02055.hp1 HG02145.hp2 others(11): Show |
intron_variant | MODIFIER | c.-21-3488T>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15686460 | |||||||
| chr12:15686519 | A | C | 1 | a0001c0002t0008g0023 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.-21-3547T>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15686519 | |||||||
| chr12:15687230 | C | T | 2 | a0001c0002t0001g0006 a0001c0002t0001g0032 |
2 | HG02922.hp1 HG03486.hp1 |
intron_variant | MODIFIER | c.-21-4258G>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15687230 | |||||||
| chr12:15687285 | T | G | 73 | a0001c0001t0001g0005 a0001c0001t0001g0016 a0001c0001t0001g0017 others(70): Show |
73 | HG00597.hp1 HG00597.hp2 HG00621.hp1 others(70): Show |
intron_variant | MODIFIER | c.-21-4313A>C | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15687285 | |||||||
| chr12:15687452 | C | T | 9 | a0001c0001t0001g0005 a0001c0001t0001g0021 a0001c0001t0001g0042 others(6): Show |
9 | HG01256.hp2 HG02132.hp1 HG02300.hp1 others(6): Show |
intron_variant | MODIFIER | c.-21-4480G>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15687452 | |||||||
| chr12:15687573 | G | C | 1 | a0001c0002t0005g0014 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.-21-4601C>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15687573 | |||||||
| chr12:15687763 | G | A | 1 | a0001c0001t0001g0020 | 1 | HG01261.hp2 | intron_variant | MODIFIER | c.-21-4791C>T | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15687763 | |||||||
| chr12:15688180 | G | C | 1 | a0001c0002t0001g0006 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.-21-5208C>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15688180 | |||||||
| chr12:15688432 | A | G | 1 | a0001c0001t0001g0024 | 1 | HG00733.hp2 | intron_variant | MODIFIER | c.-21-5460T>C | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15688432 | |||||||
| chr12:15688456 | T | G | 13 | a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0067 others(10): Show |
13 | HG02055.hp1 HG02145.hp2 HG02451.hp2 others(10): Show |
intron_variant | MODIFIER | c.-21-5484A>C | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15688456 | |||||||
| chr12:15688823 | G | T | 1 | a0001c0002t0001g0006 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.-21-5851C>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15688823 | |||||||
| chr12:15689354 | C | T | 1 | a0001c0002t0001g0032 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.-21-6382G>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15689354 | |||||||
| chr12:15689354 | CA | C | 44 | a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 others(41): Show |
44 | HG00597.hp1 HG00621.hp1 HG00621.hp2 others(41): Show |
intron_variant | MODIFIER | c.-21-6383delT | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15689354 | |||||||
| chr12:15689458 | G | A | 1 | a0001c0002t0005g0014 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.-21-6486C>T | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15689458 | |||||||
| chr12:15689715 | T | C | 1 | a0001c0002t0001g0032 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.-21-6743A>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15689715 | |||||||
| chr12:15690026 | A | AC | 4 | a0001c0001t0002g0009 a0001c0001t0002g0012 a0001c0001t0002g0013 others(1): Show |
4 | HG01109.hp2 HG01891.hp1 HG02886.hp1 others(1): Show |
intron_variant | MODIFIER | c.-21-7055dupG | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15690026 | |||||||
| chr12:15690270 | C | T | 1 | a0001c0001t0001g0025 | 1 | HG00597.hp2 | intron_variant | MODIFIER | c.-21-7298G>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15690270 | |||||||
| chr12:15690277 | C | T | 53 | a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 others(50): Show |
53 | HG00597.hp1 HG00597.hp2 HG00621.hp1 others(50): Show |
intron_variant | MODIFIER | c.-21-7305G>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15690277 | |||||||
| chr12:15690300 | C | A | 1 | a0001c0001t0007g0084 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.-21-7328G>T | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15690300 | |||||||
| chr12:15690431 | C | A | 1 | a0001c0001t0001g0087 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.-21-7459G>T | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15690431 | |||||||
| chr12:15690562 | A | T | 1 | a0001c0002t0005g0014 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.-21-7590T>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15690562 | |||||||
| chr12:15690582 | G | C | 3 | a0001c0001t0001g0029 a0001c0001t0001g0100 a0004c0008t0001g0028 |
3 | HG00738.hp1 HG01071.hp1 HG02132.hp2 |
intron_variant | MODIFIER | c.-21-7610C>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15690582 | |||||||
| chr12:15690607 | G | A | 1 | a0001c0002t0001g0061 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.-21-7635C>T | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15690607 | |||||||
| chr12:15690645 | G | A | 1 | a0001c0002t0005g0014 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.-21-7673C>T | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15690645 | |||||||
| chr12:15690680 | T | A | 14 | a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0002t0001g0034 others(11): Show |
14 | HG01109.hp1 HG02055.hp1 HG02145.hp2 others(11): Show |
intron_variant | MODIFIER | c.-21-7708A>T | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15690680 | |||||||
| chr12:15690718 | T | C | 44 | a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 others(41): Show |
44 | HG00597.hp1 HG00621.hp1 HG00621.hp2 others(41): Show |
intron_variant | MODIFIER | c.-21-7746A>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15690718 | |||||||
| chr12:15690837 | A | C | 9 | a0001c0001t0001g0005 a0001c0001t0001g0021 a0001c0001t0001g0042 others(6): Show |
9 | HG01256.hp2 HG02132.hp1 HG02300.hp1 others(6): Show |
intron_variant | MODIFIER | c.-21-7865T>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15690837 | |||||||
| chr12:15690848 | T | C | 2 | a0001c0001t0001g0067 a0001c0001t0001g0068 |
2 | HG02559.hp1 HG03516.hp2 |
intron_variant | MODIFIER | c.-21-7876A>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15690848 | |||||||
| chr12:15690981 | TA | T | 53 | a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 others(50): Show |
53 | HG00597.hp1 HG00597.hp2 HG00621.hp1 others(50): Show |
intron_variant | MODIFIER | c.-21-8010delT | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15690981 | |||||||
| chr12:15691063 | T | C | 1 | a0001c0002t0003g0002 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.-21-8091A>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15691063 | |||||||
| chr12:15691497 | T | G | 1 | a0001c0002t0005g0014 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.-21-8525A>C | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15691497 | |||||||
| chr12:15691697 | A | T | 9 | a0001c0001t0001g0005 a0001c0001t0001g0021 a0001c0001t0001g0042 others(6): Show |
9 | HG01256.hp2 HG02132.hp1 HG02300.hp1 others(6): Show |
intron_variant | MODIFIER | c.-21-8725T>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15691697 | |||||||
| chr12:15691830 | G | A | 1 | a0001c0002t0005g0014 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.-21-8858C>T | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15691830 | |||||||
| chr12:15692319 | G | GT | 10 | a0001c0001t0001g0021 a0001c0001t0001g0042 a0001c0001t0001g0045 others(7): Show |
10 | HG01256.hp2 HG02109.hp1 HG02145.hp1 others(7): Show |
intron_variant | MODIFIER | c.-21-9348dupA | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15692319 | |||||||
| chr12:15692319 | G | T | 1 | a0001c0002t0001g0006 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.-21-9347C>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15692319 | |||||||
| chr12:15692319 | GTT | G | 7 | a0001c0001t0001g0025 a0001c0001t0002g0013 a0001c0002t0001g0008 others(4): Show |
7 | HG00597.hp2 HG01109.hp1 HG01109.hp2 others(4): Show |
intron_variant | MODIFIER | c.-21-9349_-21-9348d others(4): Show |
EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15692319 | |||||||
| chr12:15692319 | GTTT | G | 43 | a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 others(40): Show |
43 | HG00597.hp1 HG00621.hp1 HG00621.hp2 others(40): Show |
intron_variant | MODIFIER | c.-21-9350_-21-9348d others(5): Show |
EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15692319 | |||||||
| chr12:15692329 | T | G | 43 | a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 others(40): Show |
43 | HG00597.hp1 HG00621.hp1 HG00621.hp2 others(40): Show |
intron_variant | MODIFIER | c.-21-9357A>C | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15692329 | |||||||
| chr12:15692510 | A | T | 1 | a0001c0001t0001g0024 | 1 | HG00733.hp2 | intron_variant | MODIFIER | c.-21-9538T>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15692510 | |||||||
| chr12:15692800 | T | C | 1 | a0001c0009t0001g0088 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.-21-9828A>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15692800 | |||||||
| chr12:15692804 | A | G | 1 | a0001c0002t0005g0014 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.-21-9832T>C | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15692804 | |||||||
| chr12:15693410 | G | A | 4 | a0001c0001t0002g0009 a0001c0001t0002g0012 a0001c0001t0002g0013 others(1): Show |
4 | HG01109.hp2 HG01891.hp1 HG02886.hp1 others(1): Show |
intron_variant | MODIFIER | c.-21-10438C>T | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15693410 | |||||||
| chr12:15693908 | A | C | 3 | a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0002t0001g0008 |
3 | HG01109.hp2 HG02886.hp1 HG03098.hp1 |
intron_variant | MODIFIER | c.-21-10936T>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15693908 | |||||||
| chr12:15693950 | T | G | 74 | a0001c0001t0001g0005 a0001c0001t0001g0016 a0001c0001t0001g0017 others(71): Show |
74 | HG00597.hp1 HG00597.hp2 HG00621.hp1 others(71): Show |
intron_variant | MODIFIER | c.-21-10978A>C | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15693950 | |||||||
| chr12:15693999 | C | T | 1 | a0001c0001t0001g0024 | 1 | HG00733.hp2 | intron_variant | MODIFIER | c.-21-11027G>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15693999 | |||||||
| chr12:15694250 | G | A | 4 | a0001c0001t0002g0009 a0001c0001t0002g0012 a0001c0001t0002g0013 others(1): Show |
4 | HG01109.hp2 HG01891.hp1 HG02886.hp1 others(1): Show |
intron_variant | MODIFIER | c.-21-11278C>T | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15694250 | |||||||
| chr12:15694568 | TC | T | 54 | a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 others(51): Show |
54 | HG00597.hp1 HG00597.hp2 HG00621.hp1 others(51): Show |
intron_variant | MODIFIER | c.-21-11597delG | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15694568 | |||||||
| chr12:15694573 | A | G | 3 | a0001c0002t0003g0001 a0001c0002t0003g0002 a0001c0010t0004g0007 |
3 | HG01109.hp1 HG03471.hp2 NA19240.hp2 |
intron_variant | MODIFIER | c.-21-11601T>C | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15694573 | |||||||
| chr12:15694576 | A | T | 3 | a0001c0001t0001g0064 a0001c0001t0001g0096 a0001c0001t0007g0084 |
3 | HG01071.hp2 HG01243.hp1 HG01256.hp1 |
intron_variant | MODIFIER | c.-21-11604T>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15694576 | |||||||
| chr12:15694577 | A | T | 1 | a0001c0002t0001g0006 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.-21-11605T>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15694577 | |||||||
| chr12:15694713 | C | G | 1 | a0002c0004t0001g0081 | 1 | NA18944.hp1 | intron_variant | MODIFIER | c.-21-11741G>C | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15694713 | |||||||
| chr12:15695044 | C | T | 2 | a0001c0001t0001g0059 a0001c0001t0009g0058 |
2 | HG02258.hp2 NA18906.hp2 |
intron_variant | MODIFIER | c.-21-12072G>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15695044 | |||||||
| chr12:15695236 | A | G | 1 | a0001c0001t0001g0060 | 1 | HG02300.hp2 | intron_variant | MODIFIER | c.-21-12264T>C | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15695236 | |||||||
| chr12:15695299 | T | C | 1 | a0001c0002t0005g0014 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.-21-12327A>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15695299 | |||||||
| chr12:15695346 | C | G | 2 | a0001c0001t0001g0101 a0001c0001t0001g0102 |
2 | NA18978.hp2 NA19063.hp1 |
intron_variant | MODIFIER | c.-21-12374G>C | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15695346 | |||||||
| chr12:15695359 | C | T | 1 | a0001c0001t0001g0025 | 1 | HG00597.hp2 | intron_variant | MODIFIER | c.-21-12387G>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15695359 | |||||||
| chr12:15695389 | G | A | 2 | a0001c0001t0002g0022 a0001c0002t0008g0023 |
2 | HG01884.hp1 HG03041.hp1 |
intron_variant | MODIFIER | c.-21-12417C>T | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15695389 | |||||||
| chr12:15695467 | G | C | 1 | a0001c0002t0001g0006 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.-21-12495C>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15695467 | |||||||
| chr12:15695489 | A | G | 3 | a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0002t0001g0008 |
3 | HG01109.hp2 HG02886.hp1 HG03098.hp1 |
intron_variant | MODIFIER | c.-21-12517T>C | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15695489 | |||||||
| chr12:15695548 | T | A | 1 | a0001c0002t0001g0006 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.-21-12576A>T | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15695548 | |||||||
| chr12:15695644 | T | A | 1 | a0001c0001t0002g0022 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.-21-12672A>T | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15695644 | |||||||
| chr12:15695907 | G | A | 1 | a0002c0004t0001g0081 | 1 | NA18944.hp1 | intron_variant | MODIFIER | c.-21-12935C>T | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15695907 | |||||||
| chr12:15696004 | A | C | 3 | a0001c0005t0005g0033 a0001c0005t0005g0043 a0001c0007t0012g0015 |
3 | HG02451.hp1 HG02630.hp1 HG02818.hp1 |
intron_variant | MODIFIER | c.-21-13032T>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15696004 | |||||||
| chr12:15696035 | T | C | 4 | a0001c0001t0002g0009 a0001c0001t0002g0012 a0001c0001t0002g0013 others(1): Show |
4 | HG01109.hp2 HG01891.hp1 HG02886.hp1 others(1): Show |
intron_variant | MODIFIER | c.-21-13063A>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15696035 | |||||||
| chr12:15696171 | C | T | 2 | a0001c0001t0001g0101 a0001c0001t0001g0102 |
2 | NA18978.hp2 NA19063.hp1 |
intron_variant | MODIFIER | c.-21-13199G>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15696171 | |||||||
| chr12:15696335 | T | C | 53 | a0001c0001t0001g0005 a0001c0001t0001g0016 a0001c0001t0001g0017 others(50): Show |
53 | HG00597.hp1 HG00621.hp1 HG00621.hp2 others(50): Show |
intron_variant | MODIFIER | c.-21-13363A>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15696335 | |||||||
| chr12:15696704 | A | G | 1 | a0001c0007t0012g0015 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.-21-13732T>C | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15696704 | |||||||
| chr12:15696809 | G | C | 3 | a0001c0002t0003g0001 a0001c0002t0003g0002 a0001c0010t0004g0007 |
3 | HG01109.hp1 HG03471.hp2 NA19240.hp2 |
intron_variant | MODIFIER | c.-21-13837C>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15696809 | |||||||
| chr12:15696815 | G | A | 61 | a0001c0001t0001g0005 a0001c0001t0001g0016 a0001c0001t0001g0017 others(58): Show |
61 | HG00597.hp1 HG00597.hp2 HG00621.hp1 others(58): Show |
intron_variant | MODIFIER | c.-21-13843C>T | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15696815 | |||||||
| chr12:15697083 | A | G | 1 | a0001c0002t0008g0023 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.-21-14111T>C | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15697083 | |||||||
| chr12:15697288 | C | G | 1 | a0001c0002t0001g0006 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.-21-14316G>C | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15697288 | |||||||
| chr12:15697291 | C | G | 2 | a0001c0001t0001g0067 a0001c0001t0001g0068 |
2 | HG02559.hp1 HG03516.hp2 |
intron_variant | MODIFIER | c.-21-14319G>C | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15697291 | |||||||
| chr12:15697400 | G | A | 1 | a0001c0001t0002g0026 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.-21-14428C>T | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15697400 | |||||||
| chr12:15697402 | A | G | 3 | a0001c0002t0003g0001 a0001c0002t0003g0002 a0001c0010t0004g0007 |
3 | HG01109.hp1 HG03471.hp2 NA19240.hp2 |
intron_variant | MODIFIER | c.-21-14430T>C | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15697402 | |||||||
| chr12:15697512 | C | T | 3 | a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0002t0001g0008 |
3 | HG01109.hp2 HG02886.hp1 HG03098.hp1 |
intron_variant | MODIFIER | c.-21-14540G>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15697512 | |||||||
| chr12:15697665 | A | G | 1 | a0001c0001t0001g0099 | 1 | NA18944.hp2 | intron_variant | MODIFIER | c.-21-14693T>C | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15697665 | |||||||
| chr12:15697788 | G | A | 4 | a0001c0003t0004g0030 a0001c0003t0004g0031 a0001c0003t0004g0039 others(1): Show |
4 | HG02109.hp2 HG02622.hp2 HG03130.hp2 others(1): Show |
intron_variant | MODIFIER | c.-21-14816C>T | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15697788 | |||||||
| chr12:15698531 | G | A | 43 | a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 others(40): Show |
43 | HG00597.hp1 HG00621.hp1 HG00621.hp2 others(40): Show |
intron_variant | MODIFIER | c.-21-15559C>T | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15698531 | |||||||
| chr12:15698557 | TA | T | 94 | a0001c0001t0001g0005 a0001c0001t0001g0011 a0001c0001t0001g0016 others(91): Show |
94 | HG00597.hp1 HG00621.hp1 HG00621.hp2 others(91): Show |
intron_variant | MODIFIER | c.-21-15586delT | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15698557 | |||||||
| chr12:15698559 | A | T | 37 | a0001c0001t0001g0005 a0001c0001t0001g0011 a0001c0001t0001g0021 others(34): Show |
37 | HG00733.hp2 HG01256.hp2 HG01884.hp1 others(34): Show |
intron_variant | MODIFIER | c.-21-15587T>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15698559 | |||||||
| chr12:15698616 | T | C | 13 | a0001c0001t0001g0005 a0001c0001t0001g0021 a0001c0001t0001g0042 others(10): Show |
13 | HG01256.hp2 HG02132.hp1 HG02300.hp1 others(10): Show |
intron_variant | MODIFIER | c.-21-15644A>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15698616 | |||||||
| chr12:15699047 | C | T | 1 | a0001c0001t0009g0058 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.-21-16075G>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15699047 | |||||||
| chr12:15699121 | C | A | 27 | a0001c0001t0001g0011 a0001c0001t0001g0024 a0001c0001t0001g0027 others(24): Show |
27 | HG00733.hp2 HG01884.hp1 HG01891.hp2 others(24): Show |
intron_variant | MODIFIER | c.-21-16149G>T | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15699121 | |||||||
| chr12:15699326 | C | G | 1 | a0001c0001t0001g0020 | 1 | HG01261.hp2 | intron_variant | MODIFIER | c.-21-16354G>C | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15699326 | |||||||
| chr12:15699503 | GAGA | G | 5 | a0001c0002t0001g0069 a0001c0002t0001g0077 a0001c0002t0001g0080 others(2): Show |
5 | HG02630.hp2 HG03041.hp2 HG03098.hp2 others(2): Show |
intron_variant | MODIFIER | c.-21-16534_-21-1653 others(7): Show |
EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15699503 | |||||||
| chr12:15699557 | T | C | 86 | a0001c0001t0001g0005 a0001c0001t0001g0011 a0001c0001t0001g0016 others(83): Show |
86 | HG00597.hp1 HG00597.hp2 HG00621.hp1 others(83): Show |
intron_variant | MODIFIER | c.-21-16585A>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15699557 | |||||||
| chr12:15699632 | C | T | 86 | a0001c0001t0001g0005 a0001c0001t0001g0011 a0001c0001t0001g0016 others(83): Show |
86 | HG00597.hp1 HG00597.hp2 HG00621.hp1 others(83): Show |
intron_variant | MODIFIER | c.-21-16660G>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15699632 | |||||||
| chr12:15699647 | C | G | 1 | a0001c0001t0002g0009 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.-21-16675G>C | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15699647 | |||||||
| chr12:15699894 | G | C | 1 | a0001c0002t0001g0006 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.-21-16922C>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15699894 | |||||||
| chr12:15700029 | C | T | 1 | a0001c0002t0001g0078 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.-21-17057G>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15700029 | |||||||
| chr12:15700151 | T | C | 1 | a0001c0003t0004g0031 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.-21-17179A>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15700151 | |||||||
| chr12:15700170 | A | G | 1 | a0001c0001t0001g0094 | 1 | HG03831.hp1 | intron_variant | MODIFIER | c.-21-17198T>C | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15700170 | |||||||
| chr12:15700462 | T | C | 89 | a0001c0001t0001g0005 a0001c0001t0001g0011 a0001c0001t0001g0016 others(86): Show |
89 | HG00597.hp1 HG00597.hp2 HG00621.hp1 others(86): Show |
intron_variant | MODIFIER | c.-21-17490A>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15700462 | |||||||
| chr12:15700595 | TA | T | 28 | a0001c0001t0001g0011 a0001c0001t0001g0024 a0001c0001t0001g0027 others(25): Show |
28 | HG00733.hp2 HG01884.hp1 HG01891.hp2 others(25): Show |
intron_variant | MODIFIER | c.-21-17624delT | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15700595 | |||||||
| chr12:15701113 | T | C | 53 | a0001c0001t0001g0005 a0001c0001t0001g0016 a0001c0001t0001g0017 others(50): Show |
53 | HG00597.hp1 HG00621.hp1 HG00621.hp2 others(50): Show |
intron_variant | MODIFIER | c.-21-18141A>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15701113 | |||||||
| chr12:15701227 | G | A | 2 | a0001c0001t0001g0045 a0001c0001t0001g0083 |
2 | NA18978.hp1 NA19062.hp2 |
intron_variant | MODIFIER | c.-21-18255C>T | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15701227 | |||||||
| chr12:15701345 | A | G | 1 | a0001c0002t0001g0006 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.-21-18373T>C | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15701345 | |||||||
| chr12:15702472 | A | T | 1 | a0001c0002t0001g0006 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.-21-19500T>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15702472 | |||||||
| chr12:15702625 | TTAAATAT others(64): Show |
T | 5 | a0001c0001t0002g0009 a0001c0001t0002g0012 a0001c0001t0002g0013 others(2): Show |
5 | HG01109.hp2 HG01891.hp1 HG02886.hp1 others(2): Show |
intron_variant | MODIFIER | c.-21-19724_-21-1965 others(75): Show |
EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15702625 | |||||||
| chr12:15702682 | A | T | 44 | a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 others(41): Show |
44 | HG00597.hp1 HG00621.hp1 HG00621.hp2 others(41): Show |
intron_variant | MODIFIER | c.-21-19710T>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15702682 | |||||||
| chr12:15702690 | C | A | 1 | a0001c0003t0006g0066 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.-21-19718G>T | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15702690 | |||||||
| chr12:15702806 | G | T | 1 | a0001c0002t0001g0006 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.-21-19834C>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15702806 | |||||||
| chr12:15703351 | T | C | 89 | a0001c0001t0001g0005 a0001c0001t0001g0011 a0001c0001t0001g0016 others(86): Show |
89 | HG00597.hp1 HG00597.hp2 HG00621.hp1 others(86): Show |
intron_variant | MODIFIER | c.-21-20379A>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15703351 | |||||||
| chr12:15703476 | T | C | 1 | a0001c0002t0001g0054 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.-21-20504A>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15703476 | |||||||
| chr12:15703579 | T | G | 36 | a0001c0001t0001g0005 a0001c0001t0001g0011 a0001c0001t0001g0021 others(33): Show |
36 | HG00733.hp2 HG01256.hp2 HG01884.hp1 others(33): Show |
intron_variant | MODIFIER | c.-21-20607A>C | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15703579 | |||||||
| chr12:15703646 | TA | T | 6 | a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 others(3): Show |
6 | HG00733.hp1 HG01243.hp2 HG01884.hp2 others(3): Show |
intron_variant | MODIFIER | c.-21-20675delT | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15703646 | |||||||
| chr12:15703664 | T | C | 6 | a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 others(3): Show |
6 | HG00733.hp1 HG01243.hp2 HG01884.hp2 others(3): Show |
intron_variant | MODIFIER | c.-21-20692A>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15703664 | |||||||
| chr12:15703847 | G | GT | 20 | a0001c0001t0001g0020 a0001c0001t0001g0036 a0001c0001t0001g0038 others(17): Show |
20 | HG00738.hp1 HG01109.hp2 HG01261.hp2 others(17): Show |
intron_variant | MODIFIER | c.-21-20876dupA | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15703847 | |||||||
| chr12:15703847 | G | GTT | 12 | a0001c0001t0001g0005 a0001c0001t0001g0021 a0001c0001t0001g0042 others(9): Show |
12 | HG01109.hp1 HG01256.hp2 HG02300.hp1 others(9): Show |
intron_variant | MODIFIER | c.-21-20877_-21-2087 others(6): Show |
EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15703847 | |||||||
| chr12:15703847 | G | GTTT | 21 | a0001c0001t0001g0011 a0001c0001t0001g0024 a0001c0001t0001g0027 others(18): Show |
21 | HG00733.hp2 HG01884.hp1 HG01891.hp2 others(18): Show |
intron_variant | MODIFIER | c.-21-20878_-21-2087 others(7): Show |
EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15703847 | |||||||
| chr12:15703847 | G | GTTTT | 4 | a0001c0002t0001g0069 a0001c0002t0001g0070 a0001c0002t0001g0073 others(1): Show |
4 | HG02055.hp2 HG02145.hp1 NA19030.hp1 others(1): Show |
intron_variant | MODIFIER | c.-21-20879_-21-2087 others(8): Show |
EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15703847 | |||||||
| chr12:15703847 | GT | G | 4 | a0001c0001t0001g0087 a0001c0003t0004g0031 a0001c0003t0004g0039 others(1): Show |
4 | HG02109.hp2 HG03130.hp2 HG03579.hp2 others(1): Show |
intron_variant | MODIFIER | c.-21-20876delA | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15703847 | |||||||
| chr12:15703886 | C | T | 4 | a0001c0001t0002g0009 a0001c0001t0002g0012 a0001c0001t0002g0013 others(1): Show |
4 | HG01109.hp2 HG01891.hp1 HG02886.hp1 others(1): Show |
intron_variant | MODIFIER | c.-21-20914G>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15703886 | |||||||
| chr12:15703896 | A | G | 1 | a0001c0002t0005g0014 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.-21-20924T>C | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15703896 | |||||||
| chr12:15703920 | G | A | 1 | a0001c0002t0001g0072 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.-21-20948C>T | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15703920 | |||||||
| chr12:15704027 | A | G | 44 | a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 others(41): Show |
44 | HG00597.hp1 HG00621.hp1 HG00621.hp2 others(41): Show |
intron_variant | MODIFIER | c.-21-21055T>C | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15704027 | |||||||
| chr12:15704426 | A | C | 1 | a0001c0001t0001g0025 | 1 | HG00597.hp2 | intron_variant | MODIFIER | c.-21-21454T>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15704426 | |||||||
| chr12:15704721 | T | C | 3 | a0001c0002t0003g0001 a0001c0002t0003g0002 a0001c0010t0004g0007 |
3 | HG01109.hp1 HG03471.hp2 NA19240.hp2 |
intron_variant | MODIFIER | c.-21-21749A>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15704721 | |||||||
| chr12:15704757 | G | A | 81 | a0001c0001t0001g0005 a0001c0001t0001g0011 a0001c0001t0001g0016 others(78): Show |
81 | HG00597.hp1 HG00621.hp1 HG00621.hp2 others(78): Show |
intron_variant | MODIFIER | c.-21-21785C>T | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15704757 | |||||||
| chr12:15704905 | C | T | 1 | a0001c0001t0001g0091 | 1 | HG00597.hp1 | intron_variant | MODIFIER | c.-21-21933G>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15704905 | |||||||
| chr12:15704923 | C | A | 2 | a0001c0002t0001g0006 a0001c0002t0005g0014 |
2 | HG02922.hp1 HG03139.hp1 |
intron_variant | MODIFIER | c.-21-21951G>T | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15704923 | |||||||
| chr12:15704925 | A | C | 2 | a0001c0001t0001g0025 a0001c0001t0001g0042 |
2 | HG00597.hp2 NA19009.hp1 |
intron_variant | MODIFIER | c.-21-21953T>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15704925 | |||||||
| chr12:15705056 | T | C | 1 | a0002c0004t0001g0098 | 1 | HG02523.hp1 | intron_variant | MODIFIER | c.-21-22084A>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15705056 | |||||||
| chr12:15705243 | A | G | 1 | a0001c0001t0001g0090 | 1 | HG00738.hp2 | intron_variant | MODIFIER | c.-21-22271T>C | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15705243 | |||||||
| chr12:15705244 | C | T | 4 | a0001c0001t0001g0011 a0001c0002t0001g0010 a0001c0002t0001g0073 others(1): Show |
4 | HG02055.hp2 HG03130.hp1 HG03139.hp2 others(1): Show |
intron_variant | MODIFIER | c.-21-22272G>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15705244 | |||||||
| chr12:15705398 | T | A | 1 | a0001c0002t0001g0006 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.-21-22426A>T | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15705398 | |||||||
| chr12:15706204 | A | G | 7 | a0001c0001t0001g0005 a0001c0001t0001g0021 a0001c0001t0001g0042 others(4): Show |
7 | HG01256.hp2 HG02132.hp1 HG02300.hp1 others(4): Show |
intron_variant | MODIFIER | c.-21-23232T>C | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15706204 | |||||||
| chr12:15706317 | G | A | 79 | a0001c0001t0001g0005 a0001c0001t0001g0011 a0001c0001t0001g0016 others(76): Show |
79 | HG00597.hp1 HG00621.hp1 HG00621.hp2 others(76): Show |
intron_variant | MODIFIER | c.-21-23345C>T | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15706317 | |||||||
| chr12:15706468 | C | CA | 89 | a0001c0001t0001g0005 a0001c0001t0001g0011 a0001c0001t0001g0016 others(86): Show |
89 | HG00597.hp1 HG00597.hp2 HG00621.hp1 others(86): Show |
intron_variant | MODIFIER | c.-21-23497_-21-2349 others(5): Show |
EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15706468 | |||||||
| chr12:15706812 | C | T | 1 | a0001c0001t0001g0086 | 1 | HG02300.hp1 | intron_variant | MODIFIER | c.-21-23840G>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15706812 | |||||||
| chr12:15706889 | C | G | 1 | a0001c0001t0001g0025 | 1 | HG00597.hp2 | intron_variant | MODIFIER | c.-21-23917G>C | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15706889 | |||||||
| chr12:15707009 | T | G | 83 | a0001c0001t0001g0005 a0001c0001t0001g0011 a0001c0001t0001g0016 others(80): Show |
83 | HG00597.hp1 HG00621.hp1 HG00621.hp2 others(80): Show |
intron_variant | MODIFIER | c.-21-24037A>C | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15707009 | |||||||
| chr12:15707072 | C | A | 2 | a0001c0002t0001g0006 a0001c0002t0005g0014 |
2 | HG02922.hp1 HG03139.hp1 |
intron_variant | MODIFIER | c.-21-24100G>T | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15707072 | |||||||
| chr12:15707203 | T | C | 1 | a0001c0002t0001g0006 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.-21-24231A>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15707203 | |||||||
| chr12:15707354 | C | A | 2 | a0001c0001t0001g0067 a0001c0001t0001g0068 |
2 | HG02559.hp1 HG03516.hp2 |
intron_variant | MODIFIER | c.-21-24382G>T | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15707354 | |||||||
| chr12:15708037 | G | C | 13 | a0001c0001t0001g0005 a0001c0001t0001g0021 a0001c0001t0001g0042 others(10): Show |
13 | HG01256.hp2 HG02132.hp1 HG02258.hp1 others(10): Show |
intron_variant | MODIFIER | c.-21-25065C>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15708037 | |||||||
| chr12:15708459 | C | A | 1 | a0001c0001t0001g0097 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.-21-25487G>T | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15708459 | |||||||
| chr12:15708578 | T | C | 1 | a0001c0002t0003g0001 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.-21-25606A>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15708578 | |||||||
| chr12:15709205 | T | C | 79 | a0001c0001t0001g0005 a0001c0001t0001g0011 a0001c0001t0001g0016 others(76): Show |
79 | HG00597.hp1 HG00621.hp1 HG00621.hp2 others(76): Show |
intron_variant | MODIFIER | c.-21-26233A>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15709205 | |||||||
| chr12:15709376 | G | A | 1 | a0001c0001t0009g0058 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.-21-26404C>T | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15709376 | |||||||
| chr12:15709667 | G | T | 4 | a0001c0001t0002g0026 a0001c0005t0005g0033 a0001c0005t0005g0043 others(1): Show |
4 | HG02258.hp1 HG02451.hp1 HG02630.hp1 others(1): Show |
intron_variant | MODIFIER | c.-21-26695C>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15709667 | |||||||
| chr12:15709738 | T | C | 4 | a0001c0001t0002g0026 a0001c0005t0005g0033 a0001c0005t0005g0043 others(1): Show |
4 | HG02258.hp1 HG02451.hp1 HG02630.hp1 others(1): Show |
intron_variant | MODIFIER | c.-21-26766A>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15709738 | |||||||
| chr12:15709833 | G | A | 2 | a0001c0001t0001g0067 a0001c0001t0001g0068 |
2 | HG02559.hp1 HG03516.hp2 |
intron_variant | MODIFIER | c.-21-26861C>T | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15709833 | |||||||
| chr12:15709863 | C | T | 89 | a0001c0001t0001g0005 a0001c0001t0001g0011 a0001c0001t0001g0016 others(86): Show |
89 | HG00597.hp1 HG00597.hp2 HG00621.hp1 others(86): Show |
intron_variant | MODIFIER | c.-21-26891G>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15709863 | |||||||
| chr12:15709996 | A | T | 3 | a0001c0002t0003g0001 a0001c0002t0003g0002 a0001c0010t0004g0007 |
3 | HG01109.hp1 HG03471.hp2 NA19240.hp2 |
intron_variant | MODIFIER | c.-21-27024T>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15709996 | |||||||
| chr12:15710032 | G | A | 16 | a0001c0001t0001g0011 a0001c0001t0001g0027 a0001c0002t0001g0010 others(13): Show |
16 | HG01891.hp2 HG02055.hp2 HG02109.hp1 others(13): Show |
intron_variant | MODIFIER | c.-21-27060C>T | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15710032 | |||||||
| chr12:15710038 | C | T | 1 | a0001c0002t0001g0073 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.-21-27066G>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15710038 | |||||||
| chr12:15710096 | A | AC | 79 | a0001c0001t0001g0005 a0001c0001t0001g0011 a0001c0001t0001g0016 others(76): Show |
79 | HG00597.hp1 HG00621.hp1 HG00621.hp2 others(76): Show |
intron_variant | MODIFIER | c.-21-27125dupG | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15710096 | |||||||
| chr12:15710171 | C | T | 3 | a0001c0002t0003g0001 a0001c0002t0003g0002 a0001c0010t0004g0007 |
3 | HG01109.hp1 HG03471.hp2 NA19240.hp2 |
intron_variant | MODIFIER | c.-21-27199G>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15710171 | |||||||
| chr12:15710576 | A | C | 4 | a0001c0001t0001g0025 a0001c0002t0003g0001 a0001c0002t0003g0002 others(1): Show |
4 | HG00597.hp2 HG01109.hp1 HG03471.hp2 others(1): Show |
intron_variant | MODIFIER | c.-21-27604T>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15710576 | |||||||
| chr12:15710686 | A | G | 1 | a0001c0010t0004g0007 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.-21-27714T>C | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15710686 | |||||||
| chr12:15710699 | CA | C | 2 | a0001c0002t0001g0006 a0001c0002t0005g0014 |
2 | HG02922.hp1 HG03139.hp1 |
intron_variant | MODIFIER | c.-21-27728delT | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15710699 | |||||||
| chr12:15710796 | A | G | 53 | a0001c0001t0001g0005 a0001c0001t0001g0016 a0001c0001t0001g0017 others(50): Show |
53 | HG00597.hp1 HG00621.hp1 HG00621.hp2 others(50): Show |
intron_variant | MODIFIER | c.-21-27824T>C | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15710796 | |||||||
| chr12:15711033 | C | CTTAT | 11 | a0001c0001t0001g0020 a0001c0001t0001g0029 a0001c0001t0001g0059 others(8): Show |
11 | HG00738.hp1 HG01071.hp1 HG01071.hp2 others(8): Show |
intron_variant | MODIFIER | c.-21-28065_-21-2806 others(8): Show |
EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15711033 | |||||||
| chr12:15711033 | CTTAT | C | 41 | a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 others(38): Show |
41 | HG00597.hp1 HG00597.hp2 HG00621.hp1 others(38): Show |
intron_variant | MODIFIER | c.-21-28065_-21-2806 others(8): Show |
EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15711033 | |||||||
| chr12:15711033 | CTTATTTA others(1): Show |
C | 3 | a0001c0001t0001g0060 a0001c0001t0001g0067 a0001c0001t0001g0068 |
3 | HG02300.hp2 HG02559.hp1 HG03516.hp2 |
intron_variant | MODIFIER | c.-21-28069_-21-2806 others(12): Show |
EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15711033 | |||||||
| chr12:15711033 | CTTATTTA others(5): Show |
C | 1 | a0001c0001t0001g0019 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.-21-28073_-21-2806 others(16): Show |
EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15711033 | |||||||
| chr12:15711033 | CTTATTTA others(9): Show |
C | 1 | a0001c0001t0002g0026 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.-21-28077_-21-2806 others(20): Show |
EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15711033 | |||||||
| chr12:15711180 | C | T | 1 | a0001c0001t0001g0025 | 1 | HG00597.hp2 | intron_variant | MODIFIER | c.-21-28208G>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15711180 | |||||||
| chr12:15711347 | T | G | 3 | a0001c0002t0003g0001 a0001c0002t0003g0002 a0001c0010t0004g0007 |
3 | HG01109.hp1 HG03471.hp2 NA19240.hp2 |
intron_variant | MODIFIER | c.-21-28375A>C | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15711347 | |||||||
| chr12:15711372 | G | A | 2 | a0001c0001t0001g0095 a0003c0006t0001g0092 |
2 | HG00621.hp1 NA19087.hp2 |
intron_variant | MODIFIER | c.-21-28400C>T | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15711372 | |||||||
| chr12:15711400 | T | C | 4 | a0001c0001t0002g0009 a0001c0001t0002g0012 a0001c0001t0002g0013 others(1): Show |
4 | HG01109.hp2 HG01891.hp1 HG02886.hp1 others(1): Show |
intron_variant | MODIFIER | c.-21-28428A>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15711400 | |||||||
| chr12:15712058 | T | C | 89 | a0001c0001t0001g0005 a0001c0001t0001g0011 a0001c0001t0001g0016 others(86): Show |
89 | HG00597.hp1 HG00597.hp2 HG00621.hp1 others(86): Show |
intron_variant | MODIFIER | c.-21-29086A>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15712058 | |||||||
| chr12:15712345 | G | T | 89 | a0001c0001t0001g0005 a0001c0001t0001g0011 a0001c0001t0001g0016 others(86): Show |
89 | HG00597.hp1 HG00597.hp2 HG00621.hp1 others(86): Show |
intron_variant | MODIFIER | c.-21-29373C>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15712345 | |||||||
| chr12:15712379 | C | A | 1 | a0001c0001t0003g0004 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.-21-29407G>T | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15712379 | |||||||
| chr12:15712824 | A | G | 1 | a0001c0002t0001g0032 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.-21-29852T>C | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15712824 | |||||||
| chr12:15712838 | T | C | 89 | a0001c0001t0001g0005 a0001c0001t0001g0011 a0001c0001t0001g0016 others(86): Show |
89 | HG00597.hp1 HG00597.hp2 HG00621.hp1 others(86): Show |
intron_variant | MODIFIER | c.-21-29866A>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15712838 | |||||||
| chr12:15713154 | T | C | 1 | a0001c0001t0001g0020 | 1 | HG01261.hp2 | intron_variant | MODIFIER | c.-21-30182A>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15713154 | |||||||
| chr12:15713244 | C | T | 1 | a0001c0001t0001g0024 | 1 | HG00733.hp2 | intron_variant | MODIFIER | c.-21-30272G>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15713244 | |||||||
| chr12:15713991 | G | C | 80 | a0001c0001t0001g0005 a0001c0001t0001g0011 a0001c0001t0001g0016 others(77): Show |
80 | HG00597.hp1 HG00597.hp2 HG00621.hp1 others(77): Show |
intron_variant | MODIFIER | c.-21-31019C>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15713991 | |||||||
| chr12:15714041 | G | A | 89 | a0001c0001t0001g0005 a0001c0001t0001g0011 a0001c0001t0001g0016 others(86): Show |
89 | HG00597.hp1 HG00597.hp2 HG00621.hp1 others(86): Show |
intron_variant | MODIFIER | c.-21-31069C>T | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15714041 | |||||||
| chr12:15714326 | A | T | 4 | a0001c0001t0002g0009 a0001c0001t0002g0012 a0001c0001t0002g0013 others(1): Show |
4 | HG01109.hp2 HG01891.hp1 HG02886.hp1 others(1): Show |
intron_variant | MODIFIER | c.-21-31354T>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15714326 | |||||||
| chr12:15714401 | T | G | 85 | a0001c0001t0001g0005 a0001c0001t0001g0011 a0001c0001t0001g0016 others(82): Show |
85 | HG00597.hp1 HG00597.hp2 HG00621.hp1 others(82): Show |
intron_variant | MODIFIER | c.-21-31429A>C | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15714401 | |||||||
| chr12:15714414 | G | A | 1 | a0001c0001t0001g0025 | 1 | HG00597.hp2 | intron_variant | MODIFIER | c.-21-31442C>T | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15714414 | |||||||
| chr12:15714622 | G | A | 1 | a0001c0003t0006g0066 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.-21-31650C>T | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15714622 | |||||||
| chr12:15714788 | G | C | 1 | a0001c0001t0001g0095 | 1 | NA19087.hp2 | intron_variant | MODIFIER | c.-21-31816C>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15714788 | |||||||
| chr12:15714865 | G | A | 1 | a0001c0001t0001g0025 | 1 | HG00597.hp2 | intron_variant | MODIFIER | c.-21-31893C>T | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15714865 | |||||||
| chr12:15715276 | T | C | 99 | a0001c0001t0001g0005 a0001c0001t0001g0011 a0001c0001t0001g0016 others(96): Show |
99 | HG00597.hp1 HG00597.hp2 HG00621.hp1 others(96): Show |
intron_variant | MODIFIER | c.-21-32304A>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15715276 | |||||||
| chr12:15715287 | C | T | 1 | a0001c0001t0001g0087 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.-21-32315G>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15715287 | |||||||
| chr12:15715312 | T | C | 89 | a0001c0001t0001g0005 a0001c0001t0001g0011 a0001c0001t0001g0016 others(86): Show |
89 | HG00597.hp1 HG00597.hp2 HG00621.hp1 others(86): Show |
intron_variant | MODIFIER | c.-21-32340A>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15715312 | |||||||
| chr12:15715388 | A | T | 89 | a0001c0001t0001g0005 a0001c0001t0001g0011 a0001c0001t0001g0016 others(86): Show |
89 | HG00597.hp1 HG00597.hp2 HG00621.hp1 others(86): Show |
intron_variant | MODIFIER | c.-21-32416T>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15715388 | |||||||
| chr12:15715394 | C | CT | 14 | a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 others(11): Show |
14 | HG00733.hp1 HG01243.hp1 HG01243.hp2 others(11): Show |
intron_variant | MODIFIER | c.-21-32423dupA | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15715394 | |||||||
| chr12:15715394 | C | CTT | 38 | a0001c0001t0001g0005 a0001c0001t0001g0021 a0001c0001t0001g0029 others(35): Show |
38 | HG00597.hp1 HG00621.hp1 HG00621.hp2 others(35): Show |
intron_variant | MODIFIER | c.-21-32424_-21-3242 others(6): Show |
EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15715394 | |||||||
| chr12:15715394 | CT | C | 4 | a0001c0001t0002g0026 a0001c0005t0005g0033 a0001c0005t0005g0043 others(1): Show |
4 | HG02258.hp1 HG02451.hp1 HG02630.hp1 others(1): Show |
intron_variant | MODIFIER | c.-21-32423delA | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15715394 | |||||||
| chr12:15715398 | T | C | 1 | a0001c0002t0001g0006 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.-21-32426A>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15715398 | |||||||
| chr12:15715481 | G | A | 1 | a0001c0001t0002g0022 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.-21-32509C>T | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15715481 | |||||||
| chr12:15715541 | C | T | 79 | a0001c0001t0001g0005 a0001c0001t0001g0011 a0001c0001t0001g0016 others(76): Show |
79 | HG00597.hp1 HG00621.hp1 HG00621.hp2 others(76): Show |
intron_variant | MODIFIER | c.-21-32569G>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15715541 | |||||||
| chr12:15715661 | G | C | 1 | a0001c0002t0001g0063 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.-21-32689C>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15715661 | |||||||
| chr12:15715713 | T | A | 4 | a0001c0001t0002g0009 a0001c0001t0002g0012 a0001c0001t0002g0013 others(1): Show |
4 | HG01109.hp2 HG01891.hp1 HG02886.hp1 others(1): Show |
intron_variant | MODIFIER | c.-21-32741A>T | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15715713 | |||||||
| chr12:15715817 | C | T | 2 | a0001c0002t0001g0006 a0001c0002t0005g0014 |
2 | HG02922.hp1 HG03139.hp1 |
intron_variant | MODIFIER | c.-21-32845G>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15715817 | |||||||
| chr12:15715874 | G | A | 1 | a0001c0002t0001g0077 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.-21-32902C>T | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15715874 | |||||||
| chr12:15716141 | A | G | 85 | a0001c0001t0001g0005 a0001c0001t0001g0011 a0001c0001t0001g0016 others(82): Show |
85 | HG00597.hp1 HG00597.hp2 HG00621.hp1 others(82): Show |
intron_variant | MODIFIER | c.-21-33169T>C | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15716141 | |||||||
| chr12:15716268 | GT | G | 3 | a0001c0002t0003g0001 a0001c0002t0003g0002 a0001c0010t0004g0007 |
3 | HG01109.hp1 HG03471.hp2 NA19240.hp2 |
intron_variant | MODIFIER | c.-21-33297delA | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15716268 | |||||||
| chr12:15716761 | C | T | 1 | a0001c0001t0001g0025 | 1 | HG00597.hp2 | intron_variant | MODIFIER | c.-21-33789G>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15716761 | |||||||
| chr12:15717353 | G | A | 79 | a0001c0001t0001g0005 a0001c0001t0001g0011 a0001c0001t0001g0016 others(76): Show |
79 | HG00597.hp1 HG00621.hp1 HG00621.hp2 others(76): Show |
intron_variant | MODIFIER | c.-21-34381C>T | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15717353 | |||||||
| chr12:15717430 | T | C | 1 | a0001c0001t0001g0090 | 1 | HG00738.hp2 | intron_variant | MODIFIER | c.-21-34458A>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15717430 | |||||||
| chr12:15717674 | G | A | 1 | a0001c0003t0006g0066 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.-21-34702C>T | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15717674 | |||||||
| chr12:15717808 | G | C | 2 | a0001c0001t0001g0067 a0001c0001t0001g0068 |
2 | HG02559.hp1 HG03516.hp2 |
intron_variant | MODIFIER | c.-21-34836C>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15717808 | |||||||
| chr12:15718370 | C | T | 3 | a0001c0002t0003g0001 a0001c0002t0003g0002 a0001c0010t0004g0007 |
3 | HG01109.hp1 HG03471.hp2 NA19240.hp2 |
intron_variant | MODIFIER | c.-21-35398G>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15718370 | |||||||
| chr12:15718651 | T | C | 53 | a0001c0001t0001g0005 a0001c0001t0001g0016 a0001c0001t0001g0017 others(50): Show |
53 | HG00597.hp1 HG00621.hp1 HG00621.hp2 others(50): Show |
intron_variant | MODIFIER | c.-21-35679A>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15718651 | |||||||
| chr12:15718692 | G | C | 1 | a0001c0002t0001g0006 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.-21-35720C>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15718692 | |||||||
| chr12:15718714 | A | G | 2 | a0001c0001t0001g0067 a0001c0001t0001g0068 |
2 | HG02559.hp1 HG03516.hp2 |
intron_variant | MODIFIER | c.-21-35742T>C | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15718714 | |||||||
| chr12:15718828 | CT | C | 53 | a0001c0001t0001g0005 a0001c0001t0001g0016 a0001c0001t0001g0017 others(50): Show |
53 | HG00597.hp1 HG00621.hp1 HG00621.hp2 others(50): Show |
intron_variant | MODIFIER | c.-21-35857delA | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15718828 | |||||||
| chr12:15718862 | G | A | 53 | a0001c0001t0001g0005 a0001c0001t0001g0016 a0001c0001t0001g0017 others(50): Show |
53 | HG00597.hp1 HG00621.hp1 HG00621.hp2 others(50): Show |
intron_variant | MODIFIER | c.-21-35890C>T | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15718862 | |||||||
| chr12:15718921 | T | G | 1 | a0001c0001t0001g0095 | 1 | NA19087.hp2 | intron_variant | MODIFIER | c.-21-35949A>C | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15718921 | |||||||
| chr12:15719003 | T | C | 1 | a0001c0001t0001g0064 | 1 | HG01071.hp2 | intron_variant | MODIFIER | c.-21-36031A>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15719003 | |||||||
| chr12:15719041 | G | A | 79 | a0001c0001t0001g0005 a0001c0001t0001g0011 a0001c0001t0001g0016 others(76): Show |
79 | HG00597.hp1 HG00621.hp1 HG00621.hp2 others(76): Show |
intron_variant | MODIFIER | c.-21-36069C>T | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15719041 | |||||||
| chr12:15719131 | AG | A | 4 | a0001c0001t0001g0011 a0001c0002t0001g0010 a0001c0002t0001g0073 others(1): Show |
4 | HG02055.hp2 HG03130.hp1 HG03139.hp2 others(1): Show |
intron_variant | MODIFIER | c.-21-36160delC | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15719131 | |||||||
| chr12:15719202 | C | CAT | 3 | a0001c0005t0005g0033 a0001c0005t0005g0043 a0001c0007t0012g0015 |
3 | HG02451.hp1 HG02630.hp1 HG02818.hp1 |
intron_variant | MODIFIER | c.-21-36232_-21-3623 others(6): Show |
EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15719202 | |||||||
| chr12:15719216 | T | C | 2 | a0001c0001t0002g0022 a0001c0002t0008g0023 |
2 | HG01884.hp1 HG03041.hp1 |
intron_variant | MODIFIER | c.-21-36244A>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15719216 | |||||||
| chr12:15719238 | C | T | 9 | a0001c0001t0001g0005 a0001c0001t0001g0021 a0001c0001t0001g0042 others(6): Show |
9 | HG01256.hp2 HG02132.hp1 HG02300.hp1 others(6): Show |
intron_variant | MODIFIER | c.-21-36266G>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15719238 | |||||||
| chr12:15719601 | A | G | 1 | a0001c0001t0001g0025 | 1 | HG00597.hp2 | intron_variant | MODIFIER | c.-21-36629T>C | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15719601 | |||||||
| chr12:15719613 | G | C | 1 | a0001c0001t0001g0094 | 1 | HG03831.hp1 | intron_variant | MODIFIER | c.-21-36641C>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15719613 | |||||||
| chr12:15719635 | T | C | 1 | a0001c0001t0001g0025 | 1 | HG00597.hp2 | intron_variant | MODIFIER | c.-21-36663A>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15719635 | |||||||
| chr12:15719651 | C | T | 53 | a0001c0001t0001g0005 a0001c0001t0001g0016 a0001c0001t0001g0017 others(50): Show |
53 | HG00597.hp1 HG00621.hp1 HG00621.hp2 others(50): Show |
intron_variant | MODIFIER | c.-21-36679G>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15719651 | |||||||
| chr12:15719693 | T | C | 1 | a0001c0001t0001g0091 | 1 | HG00597.hp1 | intron_variant | MODIFIER | c.-21-36721A>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15719693 | |||||||
| chr12:15719901 | C | T | 7 | a0001c0001t0002g0009 a0001c0001t0002g0012 a0001c0001t0002g0013 others(4): Show |
7 | HG01109.hp1 HG01109.hp2 HG01891.hp1 others(4): Show |
intron_variant | MODIFIER | c.-21-36929G>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15719901 | |||||||
| chr12:15720087 | C | T | 12 | a0001c0001t0002g0009 a0001c0001t0002g0012 a0001c0001t0002g0013 others(9): Show |
12 | HG01109.hp1 HG01109.hp2 HG01884.hp1 others(9): Show |
intron_variant | MODIFIER | c.-21-37115G>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15720087 | |||||||
| chr12:15720196 | T | C | 1 | a0001c0002t0001g0063 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.-21-37224A>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15720196 | |||||||
| chr12:15720274 | C | T | 1 | a0001c0001t0001g0060 | 1 | HG02300.hp2 | intron_variant | MODIFIER | c.-21-37302G>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15720274 | |||||||
| chr12:15721011 | C | A | 3 | a0001c0001t0002g0022 a0001c0001t0002g0026 a0001c0002t0008g0023 |
3 | HG01884.hp1 HG02258.hp1 HG03041.hp1 |
intron_variant | MODIFIER | c.-21-38039G>T | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15721011 | |||||||
| chr12:15721573 | C | T | 1 | a0001c0002t0001g0032 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.-21-38601G>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15721573 | |||||||
| chr12:15721643 | C | T | 1 | a0001c0001t0001g0025 | 1 | HG00597.hp2 | intron_variant | MODIFIER | c.-21-38671G>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15721643 | |||||||
| chr12:15721669 | C | T | 1 | a0001c0001t0001g0025 | 1 | HG00597.hp2 | intron_variant | MODIFIER | c.-21-38697G>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15721669 | |||||||
| chr12:15721826 | A | T | 4 | a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0002t0001g0032 others(1): Show |
4 | HG02559.hp1 HG03486.hp1 HG03516.hp2 others(1): Show |
intron_variant | MODIFIER | c.-21-38854T>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15721826 | |||||||
| chr12:15721924 | T | C | 3 | a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0002t0001g0006 |
3 | HG00597.hp2 HG00733.hp2 HG02922.hp1 |
intron_variant | MODIFIER | c.-21-38952A>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15721924 | |||||||
| chr12:15722082 | T | C | 2 | a0001c0001t0001g0024 a0001c0002t0001g0006 |
2 | HG00733.hp2 HG02922.hp1 |
intron_variant | MODIFIER | c.-21-39110A>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15722082 | |||||||
| chr12:15722179 | C | T | 27 | a0001c0001t0001g0011 a0001c0001t0001g0025 a0001c0001t0002g0009 others(24): Show |
27 | HG00597.hp2 HG01109.hp1 HG01109.hp2 others(24): Show |
intron_variant | MODIFIER | c.-21-39207G>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15722179 | |||||||
| chr12:15722196 | CA | C | 36 | a0001c0001t0001g0011 a0001c0001t0001g0016 a0001c0001t0001g0017 others(33): Show |
36 | HG00597.hp2 HG00733.hp2 HG01109.hp1 others(33): Show |
intron_variant | MODIFIER | c.-21-39225delT | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15722196 | |||||||
| chr12:15722219 | G | A | 1 | a0001c0002t0001g0006 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.-21-39247C>T | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15722219 | |||||||
| chr12:15722330 | C | A | 1 | a0001c0001t0001g0060 | 1 | HG02300.hp2 | intron_variant | MODIFIER | c.-21-39358G>T | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15722330 | |||||||
| chr12:15722334 | A | G | 2 | a0001c0002t0003g0001 a0001c0002t0003g0002 |
2 | HG01109.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.-21-39362T>C | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15722334 | |||||||
| chr12:15722714 | C | G | 17 | a0001c0001t0001g0011 a0001c0001t0002g0009 a0001c0001t0002g0012 others(14): Show |
17 | HG01109.hp1 HG01109.hp2 HG01891.hp1 others(14): Show |
intron_variant | MODIFIER | c.-21-39742G>C | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15722714 | |||||||
| chr12:15722831 | C | T | 7 | a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 others(4): Show |
7 | HG00597.hp2 HG00733.hp2 HG01243.hp2 others(4): Show |
intron_variant | MODIFIER | c.-21-39859G>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15722831 | |||||||
| chr12:15722860 | A | G | 1 | a0001c0001t0001g0101 | 1 | NA18978.hp2 | intron_variant | MODIFIER | c.-21-39888T>C | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15722860 | |||||||
| chr12:15722998 | C | G | 1 | a0001c0001t0001g0093 | 1 | HG02523.hp2 | intron_variant | MODIFIER | c.-21-40026G>C | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15722998 | |||||||
| chr12:15723013 | A | C | 1 | a0001c0001t0001g0099 | 1 | NA18944.hp2 | intron_variant | MODIFIER | c.-21-40041T>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15723013 | |||||||
| chr12:15723016 | A | C | 1 | a0001c0003t0006g0044 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.-21-40044T>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15723016 | |||||||
| chr12:15723021 | C | A | 1 | a0001c0002t0001g0061 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.-21-40049G>T | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15723021 | |||||||
| chr12:15723021 | CA | C | 7 | a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 others(4): Show |
7 | HG00597.hp2 HG00733.hp2 HG01243.hp2 others(4): Show |
intron_variant | MODIFIER | c.-21-40050delT | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15723021 | |||||||
| chr12:15723139 | C | A | 7 | a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 others(4): Show |
7 | HG00597.hp2 HG00733.hp2 HG01243.hp2 others(4): Show |
intron_variant | MODIFIER | c.-21-40167G>T | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15723139 | |||||||
| chr12:15723303 | C | A | 17 | a0001c0001t0001g0011 a0001c0001t0002g0009 a0001c0001t0002g0012 others(14): Show |
17 | HG01109.hp1 HG01109.hp2 HG01891.hp1 others(14): Show |
intron_variant | MODIFIER | c.-21-40331G>T | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15723303 | |||||||
| chr12:15723486 | C | T | 7 | a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 others(4): Show |
7 | HG00597.hp2 HG00733.hp2 HG01243.hp2 others(4): Show |
intron_variant | MODIFIER | c.-21-40514G>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15723486 | |||||||
| chr12:15724104 | T | C | 13 | a0001c0001t0002g0022 a0001c0001t0002g0026 a0001c0002t0001g0069 others(10): Show |
13 | HG01884.hp1 HG02109.hp1 HG02145.hp1 others(10): Show |
intron_variant | MODIFIER | c.-21-41132A>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15724104 | |||||||
| chr12:15724253 | C | T | 1 | a0001c0002t0001g0006 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.-21-41281G>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15724253 | |||||||
| chr12:15724390 | A | G | 7 | a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 others(4): Show |
7 | HG00597.hp2 HG00733.hp2 HG01243.hp2 others(4): Show |
intron_variant | MODIFIER | c.-21-41418T>C | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15724390 | |||||||
| chr12:15724513 | C | G | 1 | a0001c0001t0001g0095 | 1 | NA19087.hp2 | intron_variant | MODIFIER | c.-21-41541G>C | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15724513 | |||||||
| chr12:15724591 | G | A | 14 | a0001c0001t0001g0082 a0001c0001t0001g0085 a0001c0001t0001g0087 others(11): Show |
14 | HG00597.hp1 HG00621.hp1 HG00738.hp2 others(11): Show |
intron_variant | MODIFIER | c.-21-41619C>T | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15724591 | |||||||
| chr12:15724591 | G | C | 7 | a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 others(4): Show |
7 | HG00597.hp2 HG00733.hp2 HG01243.hp2 others(4): Show |
intron_variant | MODIFIER | c.-21-41619C>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15724591 | |||||||
| chr12:15724600 | T | C | 1 | a0001c0002t0001g0006 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.-21-41628A>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15724600 | |||||||
| chr12:15724610 | T | G | 1 | a0001c0002t0001g0032 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.-21-41638A>C | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15724610 | |||||||
| chr12:15724769 | G | T | 6 | a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 others(3): Show |
6 | HG00597.hp2 HG00733.hp2 HG01243.hp2 others(3): Show |
intron_variant | MODIFIER | c.-21-41797C>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15724769 | |||||||
| chr12:15725435 | T | C | 4 | a0001c0003t0004g0030 a0001c0003t0004g0031 a0001c0003t0004g0039 others(1): Show |
4 | HG02109.hp2 HG02622.hp2 HG03130.hp2 others(1): Show |
intron_variant | MODIFIER | c.-21-42463A>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15725435 | |||||||
| chr12:15725572 | C | T | 2 | a0001c0002t0001g0034 a0001c0002t0001g0035 |
2 | HG02451.hp2 NA19240.hp1 |
intron_variant | MODIFIER | c.-21-42600G>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15725572 | |||||||
| chr12:15725703 | A | C | 2 | a0001c0001t0001g0082 a0001c0009t0001g0088 |
2 | HG03017.hp1 HG03017.hp2 |
intron_variant | MODIFIER | c.-21-42731T>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15725703 | |||||||
| chr12:15725773 | G | A | 7 | a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 others(4): Show |
7 | HG00597.hp2 HG00733.hp2 HG01243.hp2 others(4): Show |
intron_variant | MODIFIER | c.-21-42801C>T | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15725773 | |||||||
| chr12:15725961 | C | T | 1 | a0001c0002t0001g0006 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.-21-42989G>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15725961 | |||||||
| chr12:15725980 | T | C | 1 | a0001c0001t0001g0024 | 1 | HG00733.hp2 | intron_variant | MODIFIER | c.-21-43008A>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15725980 | |||||||
| chr12:15725982 | A | G | 1 | a0001c0010t0004g0007 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.-21-43010T>C | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15725982 | |||||||
| chr12:15726151 | C | T | 7 | a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 others(4): Show |
7 | HG00597.hp2 HG00733.hp2 HG01243.hp2 others(4): Show |
intron_variant | MODIFIER | c.-21-43179G>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15726151 | |||||||
| chr12:15726578 | T | C | 4 | a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 others(1): Show |
4 | HG01243.hp2 HG02622.hp1 HG02717.hp2 others(1): Show |
intron_variant | MODIFIER | c.-21-43606A>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15726578 | |||||||
| chr12:15726684 | A | G | 41 | a0001c0001t0001g0011 a0001c0001t0001g0016 a0001c0001t0001g0017 others(38): Show |
41 | HG00597.hp2 HG00733.hp2 HG01109.hp1 others(38): Show |
intron_variant | MODIFIER | c.-21-43712T>C | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15726684 | |||||||
| chr12:15726732 | T | C | 1 | a0001c0002t0001g0047 | 1 | NA19062.hp1 | intron_variant | MODIFIER | c.-21-43760A>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15726732 | |||||||
| chr12:15727245 | G | A | 17 | a0001c0001t0001g0011 a0001c0001t0002g0009 a0001c0001t0002g0012 others(14): Show |
17 | HG01109.hp1 HG01109.hp2 HG01891.hp1 others(14): Show |
intron_variant | MODIFIER | c.-21-44273C>T | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15727245 | |||||||
| chr12:15727374 | C | T | 7 | a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 others(4): Show |
7 | HG00597.hp2 HG00733.hp2 HG01243.hp2 others(4): Show |
intron_variant | MODIFIER | c.-21-44402G>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15727374 | |||||||
| chr12:15727669 | C | T | 1 | a0001c0001t0001g0005 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.-21-44697G>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15727669 | |||||||
| chr12:15727709 | T | G | 1 | a0004c0008t0001g0028 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.-21-44737A>C | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15727709 | |||||||
| chr12:15727718 | C | T | 1 | a0001c0001t0001g0024 | 1 | HG00733.hp2 | intron_variant | MODIFIER | c.-21-44746G>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15727718 | |||||||
| chr12:15727859 | A | C | 7 | a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 others(4): Show |
7 | HG00597.hp2 HG00733.hp2 HG01243.hp2 others(4): Show |
intron_variant | MODIFIER | c.-21-44887T>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15727859 | |||||||
| chr12:15727860 | A | G | 3 | a0001c0001t0002g0022 a0001c0001t0002g0026 a0001c0002t0008g0023 |
3 | HG01884.hp1 HG02258.hp1 HG03041.hp1 |
intron_variant | MODIFIER | c.-21-44888T>C | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15727860 | |||||||
| chr12:15727895 | T | C | 1 | a0001c0001t0001g0024 | 1 | HG00733.hp2 | intron_variant | MODIFIER | c.-21-44923A>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15727895 | |||||||
| chr12:15727930 | T | C | 1 | a0001c0002t0001g0006 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.-21-44958A>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15727930 | |||||||
| chr12:15727995 | C | T | 7 | a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 others(4): Show |
7 | HG00597.hp2 HG00733.hp2 HG01243.hp2 others(4): Show |
intron_variant | MODIFIER | c.-21-45023G>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15727995 | |||||||
| chr12:15728173 | C | T | 3 | a0001c0001t0002g0022 a0001c0001t0002g0026 a0001c0002t0008g0023 |
3 | HG01884.hp1 HG02258.hp1 HG03041.hp1 |
intron_variant | MODIFIER | c.-21-45201G>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15728173 | |||||||
| chr12:15728313 | G | A | 1 | a0001c0001t0001g0021 | 1 | HG01256.hp2 | intron_variant | MODIFIER | c.-21-45341C>T | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15728313 | |||||||
| chr12:15728522 | C | G | 1 | a0001c0010t0004g0007 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.-21-45550G>C | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15728522 | |||||||
| chr12:15728910 | T | A | 1 | a0001c0002t0001g0032 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.-21-45938A>T | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15728910 | |||||||
| chr12:15728910 | T | TA | 4 | a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 others(1): Show |
4 | HG01243.hp2 HG02622.hp1 HG02717.hp2 others(1): Show |
intron_variant | MODIFIER | c.-21-45939dupT | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15728910 | |||||||
| chr12:15729035 | T | G | 1 | a0001c0001t0001g0025 | 1 | HG00597.hp2 | intron_variant | MODIFIER | c.-21-46063A>C | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15729035 | |||||||
| chr12:15729257 | C | G | 7 | a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 others(4): Show |
7 | HG00597.hp2 HG00733.hp2 HG01243.hp2 others(4): Show |
intron_variant | MODIFIER | c.-21-46285G>C | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15729257 | |||||||
| chr12:15729427 | T | C | 1 | a0001c0001t0001g0024 | 1 | HG00733.hp2 | intron_variant | MODIFIER | c.-21-46455A>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15729427 | |||||||
| chr12:15729865 | C | T | 1 | a0001c0001t0001g0095 | 1 | NA19087.hp2 | intron_variant | MODIFIER | c.-21-46893G>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15729865 | |||||||
| chr12:15730072 | C | T | 1 | a0001c0001t0001g0025 | 1 | HG00597.hp2 | intron_variant | MODIFIER | c.-21-47100G>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15730072 | |||||||
| chr12:15730104 | C | A | 17 | a0001c0001t0001g0011 a0001c0001t0002g0009 a0001c0001t0002g0012 others(14): Show |
17 | HG01109.hp1 HG01109.hp2 HG01891.hp1 others(14): Show |
intron_variant | MODIFIER | c.-21-47132G>T | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15730104 | |||||||
| chr12:15730142 | A | C | 4 | a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 others(1): Show |
4 | HG01243.hp2 HG02622.hp1 HG02717.hp2 others(1): Show |
intron_variant | MODIFIER | c.-21-47170T>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15730142 | |||||||
| chr12:15730194 | T | TAC | 7 | a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 others(4): Show |
7 | HG00597.hp2 HG00733.hp2 HG01243.hp2 others(4): Show |
intron_variant | MODIFIER | c.-21-47224_-21-4722 others(6): Show |
EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15730194 | |||||||
| chr12:15730260 | T | C | 1 | a0001c0001t0001g0024 | 1 | HG00733.hp2 | intron_variant | MODIFIER | c.-21-47288A>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15730260 | |||||||
| chr12:15730561 | C | T | 3 | a0001c0001t0002g0022 a0001c0001t0002g0026 a0001c0002t0008g0023 |
3 | HG01884.hp1 HG02258.hp1 HG03041.hp1 |
intron_variant | MODIFIER | c.-21-47589G>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15730561 | |||||||
| chr12:15730658 | A | G | 17 | a0001c0001t0001g0011 a0001c0001t0002g0009 a0001c0001t0002g0012 others(14): Show |
17 | HG01109.hp1 HG01109.hp2 HG01891.hp1 others(14): Show |
intron_variant | MODIFIER | c.-21-47686T>C | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15730658 | |||||||
| chr12:15730773 | T | C | 7 | a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 others(4): Show |
7 | HG00597.hp2 HG00733.hp2 HG01243.hp2 others(4): Show |
intron_variant | MODIFIER | c.-21-47801A>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15730773 | |||||||
| chr12:15731036 | TG | T | 7 | a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 others(4): Show |
7 | HG00597.hp2 HG00733.hp2 HG01243.hp2 others(4): Show |
intron_variant | MODIFIER | c.-21-48065delC | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15731036 | |||||||
| chr12:15731141 | T | C | 1 | a0001c0001t0001g0024 | 1 | HG00733.hp2 | intron_variant | MODIFIER | c.-21-48169A>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15731141 | |||||||
| chr12:15731305 | CT | C | 5 | a0001c0001t0001g0042 a0001c0001t0001g0067 a0001c0001t0001g0068 others(2): Show |
5 | HG02559.hp1 HG03486.hp1 HG03516.hp2 others(2): Show |
intron_variant | MODIFIER | c.-21-48334delA | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15731305 | |||||||
| chr12:15731398 | G | A | 7 | a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 others(4): Show |
7 | HG00597.hp2 HG00733.hp2 HG01243.hp2 others(4): Show |
intron_variant | MODIFIER | c.-21-48426C>T | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15731398 | |||||||
| chr12:15731443 | G | C | 2 | a0001c0001t0001g0024 a0001c0002t0001g0006 |
2 | HG00733.hp2 HG02922.hp1 |
intron_variant | MODIFIER | c.-21-48471C>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15731443 | |||||||
| chr12:15731490 | G | C | 1 | a0001c0002t0008g0023 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.-21-48518C>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15731490 | |||||||
| chr12:15731500 | G | A | 3 | a0001c0001t0002g0022 a0001c0001t0002g0026 a0001c0002t0008g0023 |
3 | HG01884.hp1 HG02258.hp1 HG03041.hp1 |
intron_variant | MODIFIER | c.-21-48528C>T | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15731500 | |||||||
| chr12:15731661 | A | C | 3 | a0001c0001t0002g0022 a0001c0001t0002g0026 a0001c0002t0008g0023 |
3 | HG01884.hp1 HG02258.hp1 HG03041.hp1 |
intron_variant | MODIFIER | c.-21-48689T>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15731661 | |||||||
| chr12:15731667 | T | C | 7 | a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 others(4): Show |
7 | HG00597.hp2 HG00733.hp2 HG01243.hp2 others(4): Show |
intron_variant | MODIFIER | c.-21-48695A>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15731667 | |||||||
| chr12:15731984 | A | T | 17 | a0001c0001t0001g0011 a0001c0001t0002g0009 a0001c0001t0002g0012 others(14): Show |
17 | HG01109.hp1 HG01109.hp2 HG01891.hp1 others(14): Show |
intron_variant | MODIFIER | c.-21-49012T>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15731984 | |||||||
| chr12:15732059 | C | T | 1 | a0001c0002t0001g0040 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.-21-49087G>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15732059 | |||||||
| chr12:15732198 | G | GA | 7 | a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 others(4): Show |
7 | HG00597.hp2 HG00733.hp2 HG01243.hp2 others(4): Show |
intron_variant | MODIFIER | c.-21-49227dupT | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15732198 | |||||||
| chr12:15732427 | G | A | 17 | a0001c0001t0001g0011 a0001c0001t0002g0009 a0001c0001t0002g0012 others(14): Show |
17 | HG01109.hp1 HG01109.hp2 HG01891.hp1 others(14): Show |
intron_variant | MODIFIER | c.-21-49455C>T | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15732427 | |||||||
| chr12:15732497 | C | A | 7 | a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 others(4): Show |
7 | HG00597.hp2 HG00733.hp2 HG01243.hp2 others(4): Show |
intron_variant | MODIFIER | c.-21-49525G>T | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15732497 | |||||||
| chr12:15732740 | A | G | 3 | a0001c0001t0002g0022 a0001c0001t0002g0026 a0001c0002t0008g0023 |
3 | HG01884.hp1 HG02258.hp1 HG03041.hp1 |
intron_variant | MODIFIER | c.-21-49768T>C | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15732740 | |||||||
| chr12:15732777 | C | T | 4 | a0001c0002t0005g0014 a0001c0005t0005g0033 a0001c0005t0005g0043 others(1): Show |
4 | HG02451.hp1 HG02630.hp1 HG02818.hp1 others(1): Show |
intron_variant | MODIFIER | c.-21-49805G>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15732777 | |||||||
| chr12:15732853 | TTGA | T | 7 | a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 others(4): Show |
7 | HG00597.hp2 HG00733.hp2 HG01243.hp2 others(4): Show |
intron_variant | MODIFIER | c.-21-49884_-21-4988 others(7): Show |
EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15732853 | |||||||
| chr12:15732857 | A | G | 7 | a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 others(4): Show |
7 | HG00597.hp2 HG00733.hp2 HG01243.hp2 others(4): Show |
intron_variant | MODIFIER | c.-21-49885T>C | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15732857 | |||||||
| chr12:15733252 | G | A | 2 | a0001c0001t0001g0059 a0001c0001t0009g0058 |
2 | HG02258.hp2 NA18906.hp2 |
intron_variant | MODIFIER | c.-21-50280C>T | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15733252 | |||||||
| chr12:15733495 | T | C | 11 | a0001c0002t0001g0069 a0001c0002t0001g0070 a0001c0002t0001g0071 others(8): Show |
11 | HG02109.hp1 HG02145.hp1 HG02630.hp2 others(8): Show |
intron_variant | MODIFIER | c.-21-50523A>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15733495 | |||||||
| chr12:15733637 | A | C | 1 | a0001c0001t0001g0025 | 1 | HG00597.hp2 | intron_variant | MODIFIER | c.-21-50665T>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15733637 | |||||||
| chr12:15733900 | C | T | 1 | a0001c0001t0001g0025 | 1 | HG00597.hp2 | intron_variant | MODIFIER | c.-21-50928G>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15733900 | |||||||
| chr12:15733977 | G | A | 2 | a0001c0001t0001g0024 a0001c0002t0001g0006 |
2 | HG00733.hp2 HG02922.hp1 |
intron_variant | MODIFIER | c.-21-51005C>T | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15733977 | |||||||
| chr12:15734297 | A | G | 2 | a0001c0001t0001g0024 a0001c0002t0001g0006 |
2 | HG00733.hp2 HG02922.hp1 |
intron_variant | MODIFIER | c.-21-51325T>C | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15734297 | |||||||
| chr12:15734422 | C | T | 7 | a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 others(4): Show |
7 | HG00597.hp2 HG00733.hp2 HG01243.hp2 others(4): Show |
intron_variant | MODIFIER | c.-21-51450G>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15734422 | |||||||
| chr12:15734542 | G | A | 7 | a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 others(4): Show |
7 | HG00597.hp2 HG00733.hp2 HG01243.hp2 others(4): Show |
intron_variant | MODIFIER | c.-21-51570C>T | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15734542 | |||||||
| chr12:15734740 | A | C | 1 | a0001c0001t0001g0025 | 1 | HG00597.hp2 | intron_variant | MODIFIER | c.-21-51768T>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15734740 | |||||||
| chr12:15734801 | C | T | 1 | a0001c0001t0002g0009 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.-21-51829G>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15734801 | |||||||
| chr12:15734876 | T | C | 85 | a0001c0001t0001g0005 a0001c0001t0001g0011 a0001c0001t0001g0016 others(82): Show |
85 | HG00597.hp1 HG00597.hp2 HG00621.hp1 others(82): Show |
intron_variant | MODIFIER | c.-21-51904A>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15734876 | |||||||
| chr12:15735004 | A | G | 1 | a0001c0002t0001g0006 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.-21-52032T>C | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15735004 | |||||||
| chr12:15735027 | T | TA | 6 | a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 others(3): Show |
6 | HG00733.hp2 HG01243.hp2 HG02622.hp1 others(3): Show |
intron_variant | MODIFIER | c.-21-52056dupT | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15735027 | |||||||
| chr12:15735091 | G | A | 22 | a0001c0001t0001g0011 a0001c0001t0001g0016 a0001c0001t0001g0017 others(19): Show |
22 | HG00597.hp2 HG00733.hp2 HG01109.hp1 others(19): Show |
intron_variant | MODIFIER | c.-21-52119C>T | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15735091 | |||||||
| chr12:15735154 | T | C | 1 | a0001c0001t0001g0025 | 1 | HG00597.hp2 | intron_variant | MODIFIER | c.-21-52182A>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15735154 | |||||||
| chr12:15735826 | C | G | 22 | a0001c0001t0001g0011 a0001c0001t0001g0016 a0001c0001t0001g0017 others(19): Show |
22 | HG00597.hp2 HG00733.hp2 HG01109.hp1 others(19): Show |
intron_variant | MODIFIER | c.-21-52854G>C | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15735826 | |||||||
| chr12:15735876 | A | G | 4 | a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 others(1): Show |
4 | HG01243.hp2 HG02622.hp1 HG02717.hp2 others(1): Show |
intron_variant | MODIFIER | c.-21-52904T>C | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15735876 | |||||||
| chr12:15735877 | CAA | C | 2 | a0001c0001t0001g0059 a0001c0001t0009g0058 |
2 | HG02258.hp2 NA18906.hp2 |
intron_variant | MODIFIER | c.-21-52907_-21-5290 others(6): Show |
EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15735877 | |||||||
| chr12:15736032 | C | T | 1 | a0001c0001t0001g0060 | 1 | HG02300.hp2 | intron_variant | MODIFIER | c.-21-53060G>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15736032 | |||||||
| chr12:15736097 | G | C | 3 | a0001c0005t0005g0033 a0001c0005t0005g0043 a0001c0007t0012g0015 |
3 | HG02451.hp1 HG02630.hp1 HG02818.hp1 |
intron_variant | MODIFIER | c.-22+53064C>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15736097 | |||||||
| chr12:15736202 | A | G | 12 | a0001c0002t0001g0069 a0001c0002t0001g0070 a0001c0002t0001g0071 others(9): Show |
12 | HG02055.hp2 HG02109.hp1 HG02145.hp1 others(9): Show |
intron_variant | MODIFIER | c.-22+52959T>C | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15736202 | |||||||
| chr12:15736221 | T | C | 33 | a0001c0001t0001g0011 a0001c0001t0001g0016 a0001c0001t0001g0017 others(30): Show |
33 | HG00597.hp2 HG00733.hp2 HG01109.hp1 others(30): Show |
intron_variant | MODIFIER | c.-22+52940A>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15736221 | |||||||
| chr12:15736765 | C | G | 1 | a0001c0001t0001g0025 | 1 | HG00597.hp2 | intron_variant | MODIFIER | c.-22+52396G>C | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15736765 | |||||||
| chr12:15736784 | C | A | 1 | a0001c0002t0003g0003 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.-22+52377G>T | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15736784 | |||||||
| chr12:15736851 | G | A | 26 | a0001c0001t0001g0011 a0001c0001t0002g0009 a0001c0001t0002g0012 others(23): Show |
26 | HG01109.hp1 HG01109.hp2 HG01884.hp1 others(23): Show |
intron_variant | MODIFIER | c.-22+52310C>T | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15736851 | |||||||
| chr12:15736906 | T | A | 4 | a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 others(1): Show |
4 | HG01243.hp2 HG02622.hp1 HG02717.hp2 others(1): Show |
intron_variant | MODIFIER | c.-22+52255A>T | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15736906 | |||||||
| chr12:15737012 | T | G | 1 | a0004c0008t0001g0028 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.-22+52149A>C | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15737012 | |||||||
| chr12:15737393 | T | C | 4 | a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 others(1): Show |
4 | HG01243.hp2 HG02622.hp1 HG02717.hp2 others(1): Show |
intron_variant | MODIFIER | c.-22+51768A>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15737393 | |||||||
| chr12:15737523 | T | C | 1 | a0001c0001t0001g0024 | 1 | HG00733.hp2 | intron_variant | MODIFIER | c.-22+51638A>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15737523 | |||||||
| chr12:15737574 | T | C | 4 | a0001c0002t0005g0014 a0001c0005t0005g0033 a0001c0005t0005g0043 others(1): Show |
4 | HG02451.hp1 HG02630.hp1 HG02818.hp1 others(1): Show |
intron_variant | MODIFIER | c.-22+51587A>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15737574 | |||||||
| chr12:15737756 | T | C | 1 | a0001c0001t0001g0025 | 1 | HG00597.hp2 | intron_variant | MODIFIER | c.-22+51405A>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15737756 | |||||||
| chr12:15737821 | C | T | 2 | a0001c0001t0001g0067 a0001c0001t0001g0068 |
2 | HG02559.hp1 HG03516.hp2 |
intron_variant | MODIFIER | c.-22+51340G>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15737821 | |||||||
| chr12:15737822 | G | A | 1 | a0002c0004t0001g0062 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.-22+51339C>T | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15737822 | |||||||
| chr12:15737903 | T | C | 2 | a0001c0001t0001g0024 a0001c0001t0001g0025 |
2 | HG00597.hp2 HG00733.hp2 |
intron_variant | MODIFIER | c.-22+51258A>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15737903 | |||||||
| chr12:15737914 | T | C | 3 | a0001c0001t0002g0022 a0001c0001t0002g0026 a0001c0002t0008g0023 |
3 | HG01884.hp1 HG02258.hp1 HG03041.hp1 |
intron_variant | MODIFIER | c.-22+51247A>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15737914 | |||||||
| chr12:15737942 | T | C | 2 | a0001c0001t0001g0024 a0001c0001t0001g0025 |
2 | HG00597.hp2 HG00733.hp2 |
intron_variant | MODIFIER | c.-22+51219A>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15737942 | |||||||
| chr12:15737993 | C | T | 1 | a0001c0001t0001g0020 | 1 | HG01261.hp2 | intron_variant | MODIFIER | c.-22+51168G>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15737993 | |||||||
| chr12:15738008 | GCTAAA | G | 4 | a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 others(1): Show |
4 | HG01243.hp2 HG02622.hp1 HG02717.hp2 others(1): Show |
intron_variant | MODIFIER | c.-22+51148_-22+5115 others(9): Show |
EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15738008 | |||||||
| chr12:15738014 | C | T | 4 | a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 others(1): Show |
4 | HG01243.hp2 HG02622.hp1 HG02717.hp2 others(1): Show |
intron_variant | MODIFIER | c.-22+51147G>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15738014 | |||||||
| chr12:15738019 | A | T | 4 | a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 others(1): Show |
4 | HG01243.hp2 HG02622.hp1 HG02717.hp2 others(1): Show |
intron_variant | MODIFIER | c.-22+51142T>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15738019 | |||||||
| chr12:15738020 | G | T | 4 | a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 others(1): Show |
4 | HG01243.hp2 HG02622.hp1 HG02717.hp2 others(1): Show |
intron_variant | MODIFIER | c.-22+51141C>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15738020 | |||||||
| chr12:15738083 | C | T | 7 | a0001c0001t0001g0011 a0001c0001t0002g0009 a0001c0001t0002g0012 others(4): Show |
7 | HG01109.hp2 HG01891.hp1 HG02886.hp1 others(4): Show |
intron_variant | MODIFIER | c.-22+51078G>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15738083 | |||||||
| chr12:15738325 | C | T | 2 | a0001c0001t0001g0024 a0001c0001t0001g0025 |
2 | HG00597.hp2 HG00733.hp2 |
intron_variant | MODIFIER | c.-22+50836G>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15738325 | |||||||
| chr12:15738626 | T | A | 1 | a0001c0002t0001g0032 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.-22+50535A>T | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15738626 | |||||||
| chr12:15738672 | A | C | 1 | a0001c0001t0001g0100 | 1 | HG02132.hp2 | intron_variant | MODIFIER | c.-22+50489T>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15738672 | |||||||
| chr12:15738743 | GT | G | 6 | a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 others(3): Show |
6 | HG00597.hp2 HG00733.hp2 HG01243.hp2 others(3): Show |
intron_variant | MODIFIER | c.-22+50417delA | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15738743 | |||||||
| chr12:15739012 | C | T | 1 | a0001c0001t0001g0025 | 1 | HG00597.hp2 | intron_variant | MODIFIER | c.-22+50149G>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15739012 | |||||||
| chr12:15739016 | G | C | 1 | a0001c0002t0001g0069 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.-22+50145C>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15739016 | |||||||
| chr12:15739024 | A | C | 14 | a0001c0001t0001g0011 a0001c0001t0001g0016 a0001c0001t0001g0017 others(11): Show |
14 | HG00597.hp2 HG00733.hp2 HG01109.hp2 others(11): Show |
intron_variant | MODIFIER | c.-22+50137T>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15739024 | |||||||
| chr12:15739428 | G | C | 3 | a0001c0001t0002g0022 a0001c0001t0002g0026 a0001c0002t0008g0023 |
3 | HG01884.hp1 HG02258.hp1 HG03041.hp1 |
intron_variant | MODIFIER | c.-22+49733C>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15739428 | |||||||
| chr12:15739438 | G | T | 29 | a0001c0001t0001g0011 a0001c0001t0001g0016 a0001c0001t0001g0017 others(26): Show |
29 | HG00597.hp2 HG00733.hp2 HG01109.hp2 others(26): Show |
intron_variant | MODIFIER | c.-22+49723C>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15739438 | |||||||
| chr12:15739522 | G | A | 1 | a0001c0002t0001g0063 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.-22+49639C>T | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15739522 | |||||||
| chr12:15739621 | C | A | 4 | a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 others(1): Show |
4 | HG01243.hp2 HG02622.hp1 HG02717.hp2 others(1): Show |
intron_variant | MODIFIER | c.-22+49540G>T | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15739621 | |||||||
| chr12:15739769 | T | C | 29 | a0001c0001t0001g0011 a0001c0001t0001g0016 a0001c0001t0001g0017 others(26): Show |
29 | HG00597.hp2 HG00733.hp2 HG01109.hp2 others(26): Show |
intron_variant | MODIFIER | c.-22+49392A>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15739769 | |||||||
| chr12:15739877 | A | G | 12 | a0001c0002t0001g0069 a0001c0002t0001g0070 a0001c0002t0001g0071 others(9): Show |
12 | HG02055.hp2 HG02109.hp1 HG02145.hp1 others(9): Show |
intron_variant | MODIFIER | c.-22+49284T>C | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15739877 | |||||||
| chr12:15739912 | T | C | 4 | a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 others(1): Show |
4 | HG01243.hp2 HG02622.hp1 HG02717.hp2 others(1): Show |
intron_variant | MODIFIER | c.-22+49249A>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15739912 | |||||||
| chr12:15739952 | T | C | 1 | a0001c0002t0001g0032 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.-22+49209A>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15739952 | |||||||
| chr12:15739956 | G | A | 4 | a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 others(1): Show |
4 | HG01243.hp2 HG02622.hp1 HG02717.hp2 others(1): Show |
intron_variant | MODIFIER | c.-22+49205C>T | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15739956 | |||||||
| chr12:15739993 | A | G | 1 | a0001c0010t0004g0007 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.-22+49168T>C | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15739993 | |||||||
| chr12:15740033 | C | T | 1 | a0001c0001t0001g0024 | 1 | HG00733.hp2 | intron_variant | MODIFIER | c.-22+49128G>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15740033 | |||||||
| chr12:15740103 | T | A | 2 | a0001c0001t0001g0082 a0001c0009t0001g0088 |
2 | HG03017.hp1 HG03017.hp2 |
intron_variant | MODIFIER | c.-22+49058A>T | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15740103 | |||||||
| chr12:15740262 | G | C | 1 | a0001c0001t0001g0025 | 1 | HG00597.hp2 | intron_variant | MODIFIER | c.-22+48899C>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15740262 | |||||||
| chr12:15740485 | C | T | 7 | a0001c0001t0001g0011 a0001c0001t0002g0009 a0001c0001t0002g0012 others(4): Show |
7 | HG01109.hp2 HG01891.hp1 HG02886.hp1 others(4): Show |
intron_variant | MODIFIER | c.-22+48676G>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15740485 | |||||||
| chr12:15740564 | A | AAAAT | 6 | a0001c0001t0001g0024 a0001c0001t0001g0041 a0001c0001t0002g0009 others(3): Show |
6 | HG00733.hp2 HG01891.hp1 HG02109.hp2 others(3): Show |
intron_variant | MODIFIER | c.-22+48593_-22+4859 others(8): Show |
EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15740564 | |||||||
| chr12:15740564 | AAAAT | A | 5 | a0001c0001t0001g0011 a0001c0001t0001g0087 a0001c0001t0001g0095 others(2): Show |
5 | HG03130.hp1 HG03471.hp1 HG03471.hp2 others(2): Show |
intron_variant | MODIFIER | c.-22+48593_-22+4859 others(8): Show |
EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15740564 | |||||||
| chr12:15740564 | AAAATAAA others(1): Show |
A | 7 | a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 others(4): Show |
7 | HG01109.hp1 HG01243.hp2 HG02055.hp1 others(4): Show |
intron_variant | MODIFIER | c.-22+48589_-22+4859 others(12): Show |
EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15740564 | |||||||
| chr12:15740788 | C | T | 2 | a0001c0002t0001g0080 a0002c0004t0001g0079 |
2 | HG02630.hp2 HG03098.hp2 |
intron_variant | MODIFIER | c.-22+48373G>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15740788 | |||||||
| chr12:15740808 | A | G | 1 | a0001c0002t0001g0006 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.-22+48353T>C | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15740808 | |||||||
| chr12:15740826 | G | A | 1 | a0001c0002t0001g0006 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.-22+48335C>T | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15740826 | |||||||
| chr12:15740884 | T | C | 1 | a0002c0004t0001g0081 | 1 | NA18944.hp1 | intron_variant | MODIFIER | c.-22+48277A>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15740884 | |||||||
| chr12:15740887 | G | A | 4 | a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 others(1): Show |
4 | HG01243.hp2 HG02622.hp1 HG02717.hp2 others(1): Show |
intron_variant | MODIFIER | c.-22+48274C>T | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15740887 | |||||||
| chr12:15740911 | G | A | 2 | a0001c0001t0001g0024 a0001c0001t0001g0025 |
2 | HG00597.hp2 HG00733.hp2 |
intron_variant | MODIFIER | c.-22+48250C>T | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15740911 | |||||||
| chr12:15741026 | G | A | 7 | a0001c0001t0001g0011 a0001c0001t0002g0009 a0001c0001t0002g0012 others(4): Show |
7 | HG01109.hp2 HG01891.hp1 HG02886.hp1 others(4): Show |
intron_variant | MODIFIER | c.-22+48135C>T | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15741026 | |||||||
| chr12:15741250 | G | A | 2 | a0001c0001t0001g0024 a0001c0001t0001g0025 |
2 | HG00597.hp2 HG00733.hp2 |
intron_variant | MODIFIER | c.-22+47911C>T | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15741250 | |||||||
| chr12:15741401 | C | T | 4 | a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 others(1): Show |
4 | HG01243.hp2 HG02622.hp1 HG02717.hp2 others(1): Show |
intron_variant | MODIFIER | c.-22+47760G>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15741401 | |||||||
| chr12:15741456 | C | A | 7 | a0001c0001t0001g0011 a0001c0001t0002g0009 a0001c0001t0002g0012 others(4): Show |
7 | HG01109.hp2 HG01891.hp1 HG02886.hp1 others(4): Show |
intron_variant | MODIFIER | c.-22+47705G>T | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15741456 | |||||||
| chr12:15741573 | C | A | 4 | a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 others(1): Show |
4 | HG01243.hp2 HG02622.hp1 HG02717.hp2 others(1): Show |
intron_variant | MODIFIER | c.-22+47588G>T | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15741573 | |||||||
| chr12:15741633 | G | A | 2 | a0001c0001t0001g0024 a0001c0001t0001g0025 |
2 | HG00597.hp2 HG00733.hp2 |
intron_variant | MODIFIER | c.-22+47528C>T | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15741633 | |||||||
| chr12:15741706 | C | G | 2 | a0001c0001t0001g0024 a0001c0001t0001g0025 |
2 | HG00597.hp2 HG00733.hp2 |
intron_variant | MODIFIER | c.-22+47455G>C | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15741706 | |||||||
| chr12:15741827 | A | G | 1 | a0001c0002t0001g0072 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.-22+47334T>C | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15741827 | |||||||
| chr12:15741857 | C | T | 3 | a0001c0001t0002g0022 a0001c0001t0002g0026 a0001c0002t0008g0023 |
3 | HG01884.hp1 HG02258.hp1 HG03041.hp1 |
intron_variant | MODIFIER | c.-22+47304G>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15741857 | |||||||
| chr12:15742055 | A | G | 12 | a0001c0002t0001g0069 a0001c0002t0001g0070 a0001c0002t0001g0071 others(9): Show |
12 | HG02055.hp2 HG02109.hp1 HG02145.hp1 others(9): Show |
intron_variant | MODIFIER | c.-22+47106T>C | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15742055 | |||||||
| chr12:15742158 | G | C | 1 | a0001c0001t0001g0095 | 1 | NA19087.hp2 | intron_variant | MODIFIER | c.-22+47003C>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15742158 | |||||||
| chr12:15742173 | T | C | 1 | a0001c0007t0012g0015 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.-22+46988A>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15742173 | |||||||
| chr12:15742175 | T | C | 7 | a0001c0001t0001g0011 a0001c0001t0002g0009 a0001c0001t0002g0012 others(4): Show |
7 | HG01109.hp2 HG01891.hp1 HG02886.hp1 others(4): Show |
intron_variant | MODIFIER | c.-22+46986A>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15742175 | |||||||
| chr12:15742182 | A | C | 1 | a0001c0001t0001g0095 | 1 | NA19087.hp2 | intron_variant | MODIFIER | c.-22+46979T>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15742182 | |||||||
| chr12:15742637 | T | A | 3 | a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0002t0001g0006 |
3 | HG00597.hp2 HG00733.hp2 HG02922.hp1 |
intron_variant | MODIFIER | c.-22+46524A>T | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15742637 | |||||||
| chr12:15742751 | T | G | 14 | a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0002t0001g0069 others(11): Show |
14 | HG00597.hp2 HG00733.hp2 HG02055.hp2 others(11): Show |
intron_variant | MODIFIER | c.-22+46410A>C | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15742751 | |||||||
| chr12:15742943 | A | G | 4 | a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 others(1): Show |
4 | HG01243.hp2 HG02622.hp1 HG02717.hp2 others(1): Show |
intron_variant | MODIFIER | c.-22+46218T>C | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15742943 | |||||||
| chr12:15743018 | G | A | 1 | a0002c0004t0001g0081 | 1 | NA18944.hp1 | intron_variant | MODIFIER | c.-22+46143C>T | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15743018 | |||||||
| chr12:15743019 | T | G | 1 | a0002c0004t0001g0081 | 1 | NA18944.hp1 | intron_variant | MODIFIER | c.-22+46142A>C | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15743019 | |||||||
| chr12:15743038 | T | G | 7 | a0001c0001t0001g0011 a0001c0001t0002g0009 a0001c0001t0002g0012 others(4): Show |
7 | HG01109.hp2 HG01891.hp1 HG02886.hp1 others(4): Show |
intron_variant | MODIFIER | c.-22+46123A>C | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15743038 | |||||||
| chr12:15743087 | C | CAAAAATC others(315): Show |
1 | a0001c0001t0001g0029 | 1 | HG01071.hp1 | intron_variant | MODIFIER | c.-22+46073_-22+4607 others(326): Show |
EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15743087 | |||||||
| chr12:15743163 | T | C | 1 | a0001c0002t0001g0006 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.-22+45998A>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15743163 | |||||||
| chr12:15743318 | G | A | 7 | a0001c0001t0001g0011 a0001c0001t0002g0009 a0001c0001t0002g0012 others(4): Show |
7 | HG01109.hp2 HG01891.hp1 HG02886.hp1 others(4): Show |
intron_variant | MODIFIER | c.-22+45843C>T | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15743318 | |||||||
| chr12:15743411 | A | C | 1 | a0001c0002t0001g0010 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.-22+45750T>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15743411 | |||||||
| chr12:15743527 | A | G | 7 | a0001c0001t0001g0011 a0001c0001t0002g0009 a0001c0001t0002g0012 others(4): Show |
7 | HG01109.hp2 HG01891.hp1 HG02886.hp1 others(4): Show |
intron_variant | MODIFIER | c.-22+45634T>C | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15743527 | |||||||
| chr12:15743567 | T | C | 1 | a0001c0002t0001g0006 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.-22+45594A>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15743567 | |||||||
| chr12:15743683 | T | C | 1 | a0001c0001t0001g0025 | 1 | HG00597.hp2 | intron_variant | MODIFIER | c.-22+45478A>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15743683 | |||||||
| chr12:15743727 | G | A | 1 | a0001c0001t0001g0025 | 1 | HG00597.hp2 | intron_variant | MODIFIER | c.-22+45434C>T | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15743727 | |||||||
| chr12:15744150 | C | T | 12 | a0001c0002t0001g0069 a0001c0002t0001g0070 a0001c0002t0001g0071 others(9): Show |
12 | HG02055.hp2 HG02109.hp1 HG02145.hp1 others(9): Show |
intron_variant | MODIFIER | c.-22+45011G>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15744150 | |||||||
| chr12:15744313 | G | C | 1 | a0002c0004t0001g0062 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.-22+44848C>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15744313 | |||||||
| chr12:15744504 | T | C | 4 | a0001c0001t0003g0004 a0001c0002t0003g0001 a0001c0002t0003g0002 others(1): Show |
4 | HG01109.hp1 HG02055.hp1 NA18906.hp1 others(1): Show |
intron_variant | MODIFIER | c.-22+44657A>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15744504 | |||||||
| chr12:15744758 | A | G | 4 | a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 others(1): Show |
4 | HG01243.hp2 HG02622.hp1 HG02717.hp2 others(1): Show |
intron_variant | MODIFIER | c.-22+44403T>C | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15744758 | |||||||
| chr12:15744828 | T | C | 1 | a0001c0007t0012g0015 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.-22+44333A>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15744828 | |||||||
| chr12:15744908 | G | A | 2 | a0001c0001t0001g0024 a0001c0001t0001g0025 |
2 | HG00597.hp2 HG00733.hp2 |
intron_variant | MODIFIER | c.-22+44253C>T | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15744908 | |||||||
| chr12:15744936 | C | T | 1 | a0001c0001t0001g0024 | 1 | HG00733.hp2 | intron_variant | MODIFIER | c.-22+44225G>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15744936 | |||||||
| chr12:15745005 | T | A | 7 | a0001c0001t0001g0011 a0001c0001t0002g0009 a0001c0001t0002g0012 others(4): Show |
7 | HG01109.hp2 HG01891.hp1 HG02886.hp1 others(4): Show |
intron_variant | MODIFIER | c.-22+44156A>T | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15745005 | |||||||
| chr12:15745021 | G | A | 28 | a0001c0001t0001g0011 a0001c0001t0001g0016 a0001c0001t0001g0017 others(25): Show |
28 | HG01109.hp2 HG01243.hp2 HG01884.hp1 others(25): Show |
intron_variant | MODIFIER | c.-22+44140C>T | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15745021 | |||||||
| chr12:15745138 | G | A | 4 | a0001c0002t0005g0014 a0001c0005t0005g0033 a0001c0005t0005g0043 others(1): Show |
4 | HG02451.hp1 HG02630.hp1 HG02818.hp1 others(1): Show |
intron_variant | MODIFIER | c.-22+44023C>T | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15745138 | |||||||
| chr12:15745242 | A | T | 4 | a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 others(1): Show |
4 | HG01243.hp2 HG02622.hp1 HG02717.hp2 others(1): Show |
intron_variant | MODIFIER | c.-22+43919T>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15745242 | |||||||
| chr12:15745258 | T | C | 2 | a0001c0001t0001g0024 a0001c0001t0001g0025 |
2 | HG00597.hp2 HG00733.hp2 |
intron_variant | MODIFIER | c.-22+43903A>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15745258 | |||||||
| chr12:15745292 | T | C | 1 | a0001c0002t0001g0032 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.-22+43869A>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15745292 | |||||||
| chr12:15745370 | A | C | 1 | a0001c0001t0001g0094 | 1 | HG03831.hp1 | intron_variant | MODIFIER | c.-22+43791T>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15745370 | |||||||
| chr12:15745558 | C | CA | 79 | a0001c0001t0001g0005 a0001c0001t0001g0011 a0001c0001t0001g0016 others(76): Show |
79 | HG00597.hp1 HG00621.hp2 HG00733.hp1 others(76): Show |
intron_variant | MODIFIER | c.-22+43602dupT | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15745558 | |||||||
| chr12:15745558 | C | CAAA | 11 | a0001c0002t0001g0070 a0001c0002t0001g0071 a0001c0002t0001g0072 others(8): Show |
11 | HG02055.hp2 HG02109.hp1 HG02145.hp1 others(8): Show |
intron_variant | MODIFIER | c.-22+43600_-22+4360 others(7): Show |
EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15745558 | |||||||
| chr12:15745857 | T | C | 1 | a0001c0001t0001g0025 | 1 | HG00597.hp2 | intron_variant | MODIFIER | c.-22+43304A>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15745857 | |||||||
| chr12:15746139 | G | T | 29 | a0001c0001t0001g0011 a0001c0001t0001g0016 a0001c0001t0001g0017 others(26): Show |
29 | HG00597.hp2 HG00733.hp2 HG01109.hp2 others(26): Show |
intron_variant | MODIFIER | c.-22+43022C>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15746139 | |||||||
| chr12:15746146 | T | C | 2 | a0001c0001t0001g0024 a0001c0001t0001g0025 |
2 | HG00597.hp2 HG00733.hp2 |
intron_variant | MODIFIER | c.-22+43015A>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15746146 | |||||||
| chr12:15746257 | C | G | 1 | a0001c0002t0001g0032 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.-22+42904G>C | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15746257 | |||||||
| chr12:15746365 | C | A | 1 | a0001c0002t0001g0006 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.-22+42796G>T | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15746365 | |||||||
| chr12:15746366 | A | T | 1 | a0001c0002t0001g0006 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.-22+42795T>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15746366 | |||||||
| chr12:15746367 | C | A | 1 | a0001c0002t0001g0006 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.-22+42794G>T | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15746367 | |||||||
| chr12:15746373 | GCTTACTC others(7188): Show |
G | 1 | a0001c0002t0001g0006 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.-22+35593_-22+4278 others(4): Show |
EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15746373 | |||||||
| chr12:15746452 | T | G | 2 | a0001c0002t0001g0070 a0001c0002t0001g0071 |
2 | HG02145.hp1 HG02965.hp2 |
intron_variant | MODIFIER | c.-22+42709A>C | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15746452 | |||||||
| chr12:15746460 | C | T | 1 | a0001c0001t0001g0083 | 1 | NA19062.hp2 | intron_variant | MODIFIER | c.-22+42701G>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15746460 | |||||||
| chr12:15746536 | A | G | 1 | a0002c0004t0001g0062 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.-22+42625T>C | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15746536 | |||||||
| chr12:15746601 | T | C | 24 | a0001c0001t0001g0029 a0001c0001t0001g0064 a0001c0001t0001g0082 others(21): Show |
24 | HG00597.hp1 HG00621.hp1 HG00738.hp1 others(21): Show |
intron_variant | MODIFIER | c.-22+42560A>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15746601 | |||||||
| chr12:15746768 | A | C | 2 | a0001c0001t0001g0024 a0001c0001t0001g0025 |
2 | HG00597.hp2 HG00733.hp2 |
intron_variant | MODIFIER | c.-22+42393T>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15746768 | |||||||
| chr12:15747056 | C | T | 5 | a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 others(2): Show |
5 | HG01243.hp2 HG01256.hp2 HG02622.hp1 others(2): Show |
intron_variant | MODIFIER | c.-22+42105G>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15747056 | |||||||
| chr12:15747068 | T | A | 2 | a0001c0001t0001g0024 a0001c0001t0001g0025 |
2 | HG00597.hp2 HG00733.hp2 |
intron_variant | MODIFIER | c.-22+42093A>T | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15747068 | |||||||
| chr12:15747288 | A | T | 1 | a0001c0002t0001g0048 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.-22+41873T>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15747288 | |||||||
| chr12:15747463 | A | T | 1 | a0001c0001t0001g0025 | 1 | HG00597.hp2 | intron_variant | MODIFIER | c.-22+41698T>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15747463 | |||||||
| chr12:15747806 | G | A | 1 | a0001c0001t0001g0027 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.-22+41355C>T | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15747806 | |||||||
| chr12:15747825 | C | A | 1 | a0001c0001t0001g0102 | 1 | NA19063.hp1 | intron_variant | MODIFIER | c.-22+41336G>T | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15747825 | |||||||
| chr12:15747830 | C | T | 15 | a0001c0001t0002g0022 a0001c0001t0002g0026 a0001c0002t0001g0069 others(12): Show |
15 | HG01884.hp1 HG02055.hp2 HG02109.hp1 others(12): Show |
intron_variant | MODIFIER | c.-22+41331G>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15747830 | |||||||
| chr12:15747935 | G | A | 3 | a0001c0005t0005g0033 a0001c0005t0005g0043 a0001c0007t0012g0015 |
3 | HG02451.hp1 HG02630.hp1 HG02818.hp1 |
intron_variant | MODIFIER | c.-22+41226C>T | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15747935 | |||||||
| chr12:15747950 | G | T | 12 | a0001c0002t0001g0069 a0001c0002t0001g0070 a0001c0002t0001g0071 others(9): Show |
12 | HG02055.hp2 HG02109.hp1 HG02145.hp1 others(9): Show |
intron_variant | MODIFIER | c.-22+41211C>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15747950 | |||||||
| chr12:15747951 | C | T | 1 | a0001c0010t0004g0007 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.-22+41210G>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15747951 | |||||||
| chr12:15747955 | G | C | 1 | a0001c0001t0002g0009 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.-22+41206C>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15747955 | |||||||
| chr12:15748026 | AAAAACAA others(4): Show |
A | 1 | a0001c0003t0004g0039 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.-22+41124_-22+4113 others(15): Show |
EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15748026 | |||||||
| chr12:15748031 | CA | C | 7 | a0001c0001t0001g0011 a0001c0001t0002g0009 a0001c0001t0002g0012 others(4): Show |
7 | HG01109.hp2 HG01891.hp1 HG02886.hp1 others(4): Show |
intron_variant | MODIFIER | c.-22+41129delT | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15748031 | |||||||
| chr12:15748222 | T | A | 4 | a0001c0001t0003g0004 a0001c0002t0003g0001 a0001c0002t0003g0002 others(1): Show |
4 | HG01109.hp1 HG02055.hp1 NA18906.hp1 others(1): Show |
intron_variant | MODIFIER | c.-22+40939A>T | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15748222 | |||||||
| chr12:15748441 | T | C | 1 | a0001c0001t0001g0025 | 1 | HG00597.hp2 | intron_variant | MODIFIER | c.-22+40720A>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15748441 | |||||||
| chr12:15748478 | C | T | 1 | a0001c0002t0003g0001 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.-22+40683G>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15748478 | |||||||
| chr12:15748845 | A | G | 4 | a0001c0002t0005g0014 a0001c0005t0005g0033 a0001c0005t0005g0043 others(1): Show |
4 | HG02451.hp1 HG02630.hp1 HG02818.hp1 others(1): Show |
intron_variant | MODIFIER | c.-22+40316T>C | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15748845 | |||||||
| chr12:15748847 | C | T | 12 | a0001c0002t0001g0069 a0001c0002t0001g0070 a0001c0002t0001g0071 others(9): Show |
12 | HG02055.hp2 HG02109.hp1 HG02145.hp1 others(9): Show |
intron_variant | MODIFIER | c.-22+40314G>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15748847 | |||||||
| chr12:15748937 | T | C | 3 | a0001c0001t0002g0022 a0001c0001t0002g0026 a0001c0002t0008g0023 |
3 | HG01884.hp1 HG02258.hp1 HG03041.hp1 |
intron_variant | MODIFIER | c.-22+40224A>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15748937 | |||||||
| chr12:15749048 | G | T | 5 | a0001c0001t0001g0082 a0001c0001t0001g0094 a0001c0001t0001g0095 others(2): Show |
5 | HG03017.hp1 HG03017.hp2 HG03831.hp1 others(2): Show |
intron_variant | MODIFIER | c.-22+40113C>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15749048 | |||||||
| chr12:15749078 | G | C | 3 | a0001c0001t0002g0022 a0001c0001t0002g0026 a0001c0002t0008g0023 |
3 | HG01884.hp1 HG02258.hp1 HG03041.hp1 |
intron_variant | MODIFIER | c.-22+40083C>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15749078 | |||||||
| chr12:15749402 | T | C | 4 | a0001c0001t0003g0004 a0001c0002t0003g0001 a0001c0002t0003g0002 others(1): Show |
4 | HG01109.hp1 HG02055.hp1 NA18906.hp1 others(1): Show |
intron_variant | MODIFIER | c.-22+39759A>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15749402 | |||||||
| chr12:15749957 | C | T | 1 | a0001c0001t0001g0025 | 1 | HG00597.hp2 | intron_variant | MODIFIER | c.-22+39204G>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15749957 | |||||||
| chr12:15750000 | T | C | 4 | a0001c0001t0003g0004 a0001c0002t0003g0001 a0001c0002t0003g0002 others(1): Show |
4 | HG01109.hp1 HG02055.hp1 NA18906.hp1 others(1): Show |
intron_variant | MODIFIER | c.-22+39161A>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15750000 | |||||||
| chr12:15750069 | T | C | 8 | a0001c0001t0003g0004 a0001c0002t0003g0001 a0001c0002t0003g0002 others(5): Show |
8 | HG01109.hp1 HG02055.hp1 HG02451.hp1 others(5): Show |
intron_variant | MODIFIER | c.-22+39092A>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15750069 | |||||||
| chr12:15750166 | G | A | 2 | a0001c0002t0001g0080 a0002c0004t0001g0079 |
2 | HG02630.hp2 HG03098.hp2 |
intron_variant | MODIFIER | c.-22+38995C>T | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15750166 | |||||||
| chr12:15750201 | T | G | 1 | a0001c0003t0004g0031 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.-22+38960A>C | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15750201 | |||||||
| chr12:15750285 | C | A | 4 | a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 others(1): Show |
4 | HG01243.hp2 HG02622.hp1 HG02717.hp2 others(1): Show |
intron_variant | MODIFIER | c.-22+38876G>T | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15750285 | |||||||
| chr12:15750724 | T | C | 12 | a0001c0002t0001g0069 a0001c0002t0001g0070 a0001c0002t0001g0071 others(9): Show |
12 | HG02055.hp2 HG02109.hp1 HG02145.hp1 others(9): Show |
intron_variant | MODIFIER | c.-22+38437A>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15750724 | |||||||
| chr12:15750930 | C | T | 3 | a0001c0001t0001g0029 a0001c0001t0001g0100 a0004c0008t0001g0028 |
3 | HG00738.hp1 HG01071.hp1 HG02132.hp2 |
intron_variant | MODIFIER | c.-22+38231G>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15750930 | |||||||
| chr12:15750931 | G | A | 1 | a0001c0002t0005g0014 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.-22+38230C>T | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15750931 | |||||||
| chr12:15751155 | C | T | 4 | a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 others(1): Show |
4 | HG01243.hp2 HG02622.hp1 HG02717.hp2 others(1): Show |
intron_variant | MODIFIER | c.-22+38006G>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15751155 | |||||||
| chr12:15751652 | A | G | 1 | a0001c0001t0001g0060 | 1 | HG02300.hp2 | intron_variant | MODIFIER | c.-22+37509T>C | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15751652 | |||||||
| chr12:15752008 | A | C | 1 | a0001c0001t0001g0024 | 1 | HG00733.hp2 | intron_variant | MODIFIER | c.-22+37153T>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15752008 | |||||||
| chr12:15752097 | C | G | 4 | a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 others(1): Show |
4 | HG01243.hp2 HG02622.hp1 HG02717.hp2 others(1): Show |
intron_variant | MODIFIER | c.-22+37064G>C | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15752097 | |||||||
| chr12:15752158 | T | C | 1 | a0001c0002t0005g0014 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.-22+37003A>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15752158 | |||||||
| chr12:15752169 | C | T | 4 | a0001c0001t0003g0004 a0001c0002t0003g0001 a0001c0002t0003g0002 others(1): Show |
4 | HG01109.hp1 HG02055.hp1 NA18906.hp1 others(1): Show |
intron_variant | MODIFIER | c.-22+36992G>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15752169 | |||||||
| chr12:15752229 | C | T | 3 | a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0003t0006g0066 |
3 | HG02559.hp1 HG03516.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.-22+36932G>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15752229 | |||||||
| chr12:15752311 | G | A | 1 | a0001c0001t0002g0009 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.-22+36850C>T | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15752311 | |||||||
| chr12:15752351 | G | A | 1 | a0001c0001t0001g0095 | 1 | NA19087.hp2 | intron_variant | MODIFIER | c.-22+36810C>T | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15752351 | |||||||
| chr12:15752646 | A | G | 2 | a0001c0002t0001g0053 a0001c0002t0008g0051 |
2 | HG00733.hp1 HG01884.hp2 |
intron_variant | MODIFIER | c.-22+36515T>C | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15752646 | |||||||
| chr12:15752958 | G | C | 7 | a0001c0001t0001g0011 a0001c0001t0002g0009 a0001c0001t0002g0012 others(4): Show |
7 | HG01109.hp2 HG01891.hp1 HG02886.hp1 others(4): Show |
intron_variant | MODIFIER | c.-22+36203C>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15752958 | |||||||
| chr12:15753569 | T | A | 1 | a0001c0002t0001g0006 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.-22+35592A>T | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15753569 | |||||||
| chr12:15754220 | C | T | 1 | a0001c0002t0001g0032 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.-22+34941G>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15754220 | |||||||
| chr12:15754233 | G | GA | 12 | a0001c0002t0001g0069 a0001c0002t0001g0070 a0001c0002t0001g0071 others(9): Show |
12 | HG02055.hp2 HG02109.hp1 HG02145.hp1 others(9): Show |
intron_variant | MODIFIER | c.-22+34927dupT | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15754233 | |||||||
| chr12:15754251 | T | A | 2 | a0001c0001t0001g0060 a0001c0002t0001g0063 |
2 | HG02300.hp2 HG02886.hp2 |
intron_variant | MODIFIER | c.-22+34910A>T | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15754251 | |||||||
| chr12:15754426 | G | T | 1 | a0001c0002t0001g0006 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.-22+34735C>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15754426 | |||||||
| chr12:15754464 | T | C | 41 | a0001c0001t0001g0011 a0001c0001t0001g0016 a0001c0001t0001g0017 others(38): Show |
41 | HG00597.hp2 HG00733.hp2 HG01109.hp1 others(38): Show |
intron_variant | MODIFIER | c.-22+34697A>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15754464 | |||||||
| chr12:15754531 | G | A | 4 | a0001c0001t0003g0004 a0001c0002t0003g0001 a0001c0002t0003g0002 others(1): Show |
4 | HG01109.hp1 HG02055.hp1 NA18906.hp1 others(1): Show |
intron_variant | MODIFIER | c.-22+34630C>T | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15754531 | |||||||
| chr12:15754687 | T | C | 1 | a0001c0002t0001g0032 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.-22+34474A>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15754687 | |||||||
| chr12:15754754 | C | T | 12 | a0001c0002t0001g0069 a0001c0002t0001g0070 a0001c0002t0001g0071 others(9): Show |
12 | HG02055.hp2 HG02109.hp1 HG02145.hp1 others(9): Show |
intron_variant | MODIFIER | c.-22+34407G>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15754754 | |||||||
| chr12:15754860 | T | C | 12 | a0001c0002t0001g0069 a0001c0002t0001g0070 a0001c0002t0001g0071 others(9): Show |
12 | HG02055.hp2 HG02109.hp1 HG02145.hp1 others(9): Show |
intron_variant | MODIFIER | c.-22+34301A>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15754860 | |||||||
| chr12:15755279 | C | T | 1 | a0001c0002t0001g0063 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.-22+33882G>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15755279 | |||||||
| chr12:15755320 | T | C | 3 | a0001c0001t0001g0091 a0001c0001t0001g0101 a0001c0001t0001g0102 |
3 | HG00597.hp1 NA18978.hp2 NA19063.hp1 |
intron_variant | MODIFIER | c.-22+33841A>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15755320 | |||||||
| chr12:15755799 | T | G | 3 | a0001c0001t0002g0022 a0001c0001t0002g0026 a0001c0002t0008g0023 |
3 | HG01884.hp1 HG02258.hp1 HG03041.hp1 |
intron_variant | MODIFIER | c.-22+33362A>C | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15755799 | |||||||
| chr12:15755928 | T | C | 1 | a0001c0003t0004g0031 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.-22+33233A>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15755928 | |||||||
| chr12:15756756 | A | G | 2 | a0001c0002t0001g0070 a0001c0002t0001g0071 |
2 | HG02145.hp1 HG02965.hp2 |
intron_variant | MODIFIER | c.-22+32405T>C | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15756756 | |||||||
| chr12:15756826 | T | C | 4 | a0001c0003t0004g0030 a0001c0003t0004g0031 a0001c0003t0004g0039 others(1): Show |
4 | HG02109.hp2 HG02622.hp2 HG03130.hp2 others(1): Show |
intron_variant | MODIFIER | c.-22+32335A>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15756826 | |||||||
| chr12:15756835 | G | T | 17 | a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0002g0022 others(14): Show |
17 | HG00597.hp2 HG00733.hp2 HG01884.hp1 others(14): Show |
intron_variant | MODIFIER | c.-22+32326C>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15756835 | |||||||
| chr12:15757136 | A | T | 29 | a0001c0001t0001g0011 a0001c0001t0001g0016 a0001c0001t0001g0017 others(26): Show |
29 | HG00597.hp2 HG00733.hp2 HG01109.hp2 others(26): Show |
intron_variant | MODIFIER | c.-22+32025T>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15757136 | |||||||
| chr12:15757164 | G | C | 2 | a0001c0001t0001g0024 a0001c0001t0001g0025 |
2 | HG00597.hp2 HG00733.hp2 |
intron_variant | MODIFIER | c.-22+31997C>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15757164 | |||||||
| chr12:15757298 | T | C | 1 | a0001c0001t0001g0025 | 1 | HG00597.hp2 | intron_variant | MODIFIER | c.-22+31863A>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15757298 | |||||||
| chr12:15757502 | T | C | 29 | a0001c0001t0001g0011 a0001c0001t0001g0016 a0001c0001t0001g0017 others(26): Show |
29 | HG00597.hp2 HG00733.hp2 HG01109.hp2 others(26): Show |
intron_variant | MODIFIER | c.-22+31659A>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15757502 | |||||||
| chr12:15757813 | C | A | 3 | a0001c0001t0002g0022 a0001c0001t0002g0026 a0001c0002t0008g0023 |
3 | HG01884.hp1 HG02258.hp1 HG03041.hp1 |
intron_variant | MODIFIER | c.-22+31348G>T | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15757813 | |||||||
| chr12:15758469 | T | C | 5 | a0001c0001t0001g0011 a0001c0001t0002g0012 a0001c0001t0002g0013 others(2): Show |
5 | HG01109.hp2 HG02886.hp1 HG03098.hp1 others(2): Show |
intron_variant | MODIFIER | c.-22+30692A>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15758469 | |||||||
| chr12:15759029 | A | T | 44 | a0001c0001t0001g0011 a0001c0001t0001g0016 a0001c0001t0001g0017 others(41): Show |
44 | HG00597.hp2 HG00733.hp2 HG01109.hp1 others(41): Show |
intron_variant | MODIFIER | c.-22+30132T>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15759029 | |||||||
| chr12:15759118 | T | A | 12 | a0001c0002t0001g0069 a0001c0002t0001g0070 a0001c0002t0001g0071 others(9): Show |
12 | HG02055.hp2 HG02109.hp1 HG02145.hp1 others(9): Show |
intron_variant | MODIFIER | c.-22+30043A>T | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15759118 | |||||||
| chr12:15759702 | A | G | 2 | a0001c0001t0001g0041 a0001c0001t0010g0049 |
2 | NA19009.hp2 NA19063.hp2 |
intron_variant | MODIFIER | c.-22+29459T>C | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15759702 | |||||||
| chr12:15759980 | G | C | 4 | a0001c0002t0005g0014 a0001c0005t0005g0033 a0001c0005t0005g0043 others(1): Show |
4 | HG02451.hp1 HG02630.hp1 HG02818.hp1 others(1): Show |
intron_variant | MODIFIER | c.-22+29181C>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15759980 | |||||||
| chr12:15760018 | A | G | 1 | a0001c0001t0001g0020 | 1 | HG01261.hp2 | intron_variant | MODIFIER | c.-22+29143T>C | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15760018 | |||||||
| chr12:15760356 | G | A | 1 | a0001c0001t0001g0090 | 1 | HG00738.hp2 | intron_variant | MODIFIER | c.-22+28805C>T | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15760356 | |||||||
| chr12:15760568 | G | A | 1 | a0001c0005t0005g0033 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.-22+28593C>T | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15760568 | |||||||
| chr12:15760576 | T | C | 29 | a0001c0001t0001g0011 a0001c0001t0001g0016 a0001c0001t0001g0017 others(26): Show |
29 | HG00597.hp2 HG00733.hp2 HG01109.hp2 others(26): Show |
intron_variant | MODIFIER | c.-22+28585A>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15760576 | |||||||
| chr12:15760661 | A | G | 3 | a0001c0001t0002g0022 a0001c0001t0002g0026 a0001c0002t0008g0023 |
3 | HG01884.hp1 HG02258.hp1 HG03041.hp1 |
intron_variant | MODIFIER | c.-22+28500T>C | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15760661 | |||||||
| chr12:15761130 | C | T | 1 | a0001c0002t0001g0006 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.-22+28031G>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15761130 | |||||||
| chr12:15761365 | C | A | 2 | a0001c0002t0001g0080 a0002c0004t0001g0079 |
2 | HG02630.hp2 HG03098.hp2 |
intron_variant | MODIFIER | c.-22+27796G>T | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15761365 | |||||||
| chr12:15761436 | C | T | 4 | a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 others(1): Show |
4 | HG01243.hp2 HG02622.hp1 HG02717.hp2 others(1): Show |
intron_variant | MODIFIER | c.-22+27725G>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15761436 | |||||||
| chr12:15761471 | A | G | 1 | a0001c0001t0001g0086 | 1 | HG02300.hp1 | intron_variant | MODIFIER | c.-22+27690T>C | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15761471 | |||||||
| chr12:15761536 | A | G | 1 | a0001c0001t0001g0025 | 1 | HG00597.hp2 | intron_variant | MODIFIER | c.-22+27625T>C | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15761536 | |||||||
| chr12:15762013 | AAT | A | 29 | a0001c0001t0001g0011 a0001c0001t0001g0016 a0001c0001t0001g0017 others(26): Show |
29 | HG00597.hp2 HG00733.hp2 HG01109.hp2 others(26): Show |
intron_variant | MODIFIER | c.-22+27146_-22+2714 others(6): Show |
EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15762013 | |||||||
| chr12:15762240 | T | C | 1 | a0001c0002t0001g0006 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.-22+26921A>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15762240 | |||||||
| chr12:15762337 | C | T | 4 | a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 others(1): Show |
4 | HG01243.hp2 HG02622.hp1 HG02717.hp2 others(1): Show |
intron_variant | MODIFIER | c.-22+26824G>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15762337 | |||||||
| chr12:15762350 | T | C | 1 | a0001c0001t0001g0025 | 1 | HG00597.hp2 | intron_variant | MODIFIER | c.-22+26811A>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15762350 | |||||||
| chr12:15762365 | G | C | 1 | a0001c0001t0001g0059 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.-22+26796C>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15762365 | |||||||
| chr12:15762427 | C | T | 1 | a0001c0001t0001g0086 | 1 | HG02300.hp1 | intron_variant | MODIFIER | c.-22+26734G>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15762427 | |||||||
| chr12:15762488 | T | C | 1 | a0001c0001t0001g0100 | 1 | HG02132.hp2 | intron_variant | MODIFIER | c.-22+26673A>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15762488 | |||||||
| chr12:15763177 | G | C | 7 | a0001c0001t0001g0011 a0001c0001t0002g0009 a0001c0001t0002g0012 others(4): Show |
7 | HG01109.hp2 HG01891.hp1 HG02886.hp1 others(4): Show |
intron_variant | MODIFIER | c.-22+25984C>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15763177 | |||||||
| chr12:15763419 | G | T | 4 | a0001c0002t0005g0014 a0001c0005t0005g0033 a0001c0005t0005g0043 others(1): Show |
4 | HG02451.hp1 HG02630.hp1 HG02818.hp1 others(1): Show |
intron_variant | MODIFIER | c.-22+25742C>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15763419 | |||||||
| chr12:15763519 | C | A | 1 | a0001c0001t0001g0025 | 1 | HG00597.hp2 | intron_variant | MODIFIER | c.-22+25642G>T | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15763519 | |||||||
| chr12:15763559 | C | T | 12 | a0001c0002t0001g0069 a0001c0002t0001g0070 a0001c0002t0001g0071 others(9): Show |
12 | HG02055.hp2 HG02109.hp1 HG02145.hp1 others(9): Show |
intron_variant | MODIFIER | c.-22+25602G>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15763559 | |||||||
| chr12:15763574 | G | T | 1 | a0001c0001t0001g0024 | 1 | HG00733.hp2 | intron_variant | MODIFIER | c.-22+25587C>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15763574 | |||||||
| chr12:15763625 | T | C | 1 | a0001c0001t0001g0091 | 1 | HG00597.hp1 | intron_variant | MODIFIER | c.-22+25536A>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15763625 | |||||||
| chr12:15763757 | A | C | 3 | a0001c0001t0002g0022 a0001c0001t0002g0026 a0001c0002t0008g0023 |
3 | HG01884.hp1 HG02258.hp1 HG03041.hp1 |
intron_variant | MODIFIER | c.-22+25404T>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15763757 | |||||||
| chr12:15763821 | A | G | 7 | a0001c0001t0001g0011 a0001c0001t0002g0009 a0001c0001t0002g0012 others(4): Show |
7 | HG01109.hp2 HG01891.hp1 HG02886.hp1 others(4): Show |
intron_variant | MODIFIER | c.-22+25340T>C | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15763821 | |||||||
| chr12:15763956 | G | A | 1 | a0001c0002t0001g0065 | 1 | NA19087.hp1 | intron_variant | MODIFIER | c.-22+25205C>T | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15763956 | |||||||
| chr12:15764087 | T | C | 13 | a0001c0001t0001g0024 a0001c0002t0001g0069 a0001c0002t0001g0070 others(10): Show |
13 | HG00733.hp2 HG02055.hp2 HG02109.hp1 others(10): Show |
intron_variant | MODIFIER | c.-22+25074A>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15764087 | |||||||
| chr12:15764248 | C | T | 1 | a0001c0001t0001g0099 | 1 | NA18944.hp2 | intron_variant | MODIFIER | c.-22+24913G>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15764248 | |||||||
| chr12:15764376 | A | G | 4 | a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 others(1): Show |
4 | HG01243.hp2 HG02622.hp1 HG02717.hp2 others(1): Show |
intron_variant | MODIFIER | c.-22+24785T>C | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15764376 | |||||||
| chr12:15764754 | A | G | 41 | a0001c0001t0001g0011 a0001c0001t0001g0016 a0001c0001t0001g0017 others(38): Show |
41 | HG00597.hp2 HG00733.hp2 HG01109.hp1 others(38): Show |
intron_variant | MODIFIER | c.-22+24407T>C | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15764754 | |||||||
| chr12:15765099 | C | G | 29 | a0001c0001t0001g0011 a0001c0001t0001g0016 a0001c0001t0001g0017 others(26): Show |
29 | HG00597.hp2 HG00733.hp2 HG01109.hp2 others(26): Show |
intron_variant | MODIFIER | c.-22+24062G>C | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15765099 | |||||||
| chr12:15765594 | C | T | 4 | a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 others(1): Show |
4 | HG01243.hp2 HG02622.hp1 HG02717.hp2 others(1): Show |
intron_variant | MODIFIER | c.-22+23567G>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15765594 | |||||||
| chr12:15765803 | G | T | 2 | a0001c0002t0001g0034 a0001c0002t0001g0035 |
2 | HG02451.hp2 NA19240.hp1 |
intron_variant | MODIFIER | c.-22+23358C>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15765803 | |||||||
| chr12:15765817 | G | T | 2 | a0001c0001t0001g0005 a0001c0001t0001g0020 |
2 | HG01261.hp2 HG03831.hp2 |
intron_variant | MODIFIER | c.-22+23344C>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15765817 | |||||||
| chr12:15765852 | C | T | 1 | a0001c0001t0001g0024 | 1 | HG00733.hp2 | intron_variant | MODIFIER | c.-22+23309G>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15765852 | |||||||
| chr12:15765874 | C | T | 1 | a0001c0001t0001g0025 | 1 | HG00597.hp2 | intron_variant | MODIFIER | c.-22+23287G>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15765874 | |||||||
| chr12:15765927 | C | T | 1 | a0001c0002t0001g0032 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.-22+23234G>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15765927 | |||||||
| chr12:15766031 | G | T | 1 | a0003c0006t0001g0092 | 1 | HG00621.hp1 | intron_variant | MODIFIER | c.-22+23130C>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15766031 | |||||||
| chr12:15766036 | A | C | 1 | a0001c0001t0001g0020 | 1 | HG01261.hp2 | intron_variant | MODIFIER | c.-22+23125T>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15766036 | |||||||
| chr12:15766065 | C | T | 1 | a0001c0001t0001g0056 | 1 | HG02132.hp1 | intron_variant | MODIFIER | c.-22+23096G>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15766065 | |||||||
| chr12:15766136 | A | G | 1 | a0001c0002t0001g0006 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.-22+23025T>C | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15766136 | |||||||
| chr12:15766229 | G | A | 1 | a0001c0001t0001g0085 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.-22+22932C>T | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15766229 | |||||||
| chr12:15766249 | G | T | 7 | a0001c0001t0001g0011 a0001c0001t0002g0009 a0001c0001t0002g0012 others(4): Show |
7 | HG01109.hp2 HG01891.hp1 HG02886.hp1 others(4): Show |
intron_variant | MODIFIER | c.-22+22912C>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15766249 | |||||||
| chr12:15766324 | C | CA | 3 | a0001c0001t0002g0022 a0001c0001t0002g0026 a0001c0002t0008g0023 |
3 | HG01884.hp1 HG02258.hp1 HG03041.hp1 |
intron_variant | MODIFIER | c.-22+22836dupT | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15766324 | |||||||
| chr12:15766424 | C | T | 4 | a0001c0001t0003g0004 a0001c0002t0003g0001 a0001c0002t0003g0002 others(1): Show |
4 | HG01109.hp1 HG02055.hp1 NA18906.hp1 others(1): Show |
intron_variant | MODIFIER | c.-22+22737G>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15766424 | |||||||
| chr12:15766429 | G | T | 4 | a0001c0001t0003g0004 a0001c0002t0003g0001 a0001c0002t0003g0002 others(1): Show |
4 | HG01109.hp1 HG02055.hp1 NA18906.hp1 others(1): Show |
intron_variant | MODIFIER | c.-22+22732C>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15766429 | |||||||
| chr12:15766496 | C | CA | 29 | a0001c0001t0001g0011 a0001c0001t0001g0016 a0001c0001t0001g0017 others(26): Show |
29 | HG00597.hp2 HG01109.hp2 HG01243.hp2 others(26): Show |
intron_variant | MODIFIER | c.-22+22664dupT | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15766496 | |||||||
| chr12:15766496 | CA | C | 5 | a0001c0001t0001g0024 a0001c0001t0003g0004 a0001c0002t0003g0001 others(2): Show |
5 | HG00733.hp2 HG01109.hp1 HG02055.hp1 others(2): Show |
intron_variant | MODIFIER | c.-22+22664delT | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15766496 | |||||||
| chr12:15766679 | C | A | 1 | a0001c0001t0001g0042 | 1 | NA19009.hp1 | intron_variant | MODIFIER | c.-22+22482G>T | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15766679 | |||||||
| chr12:15766832 | C | T | 1 | a0001c0002t0001g0010 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.-22+22329G>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15766832 | |||||||
| chr12:15767037 | T | C | 7 | a0001c0001t0001g0011 a0001c0001t0002g0009 a0001c0001t0002g0012 others(4): Show |
7 | HG01109.hp2 HG01891.hp1 HG02886.hp1 others(4): Show |
intron_variant | MODIFIER | c.-22+22124A>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15767037 | |||||||
| chr12:15767279 | C | T | 1 | a0001c0002t0001g0050 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.-22+21882G>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15767279 | |||||||
| chr12:15768089 | C | T | 12 | a0001c0002t0001g0069 a0001c0002t0001g0070 a0001c0002t0001g0071 others(9): Show |
12 | HG02055.hp2 HG02109.hp1 HG02145.hp1 others(9): Show |
intron_variant | MODIFIER | c.-22+21072G>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15768089 | |||||||
| chr12:15768098 | C | T | 1 | a0001c0002t0001g0006 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.-22+21063G>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15768098 | |||||||
| chr12:15768134 | G | A | 4 | a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 others(1): Show |
4 | HG01243.hp2 HG02622.hp1 HG02717.hp2 others(1): Show |
intron_variant | MODIFIER | c.-22+21027C>T | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15768134 | |||||||
| chr12:15768168 | G | A | 3 | a0001c0001t0002g0022 a0001c0001t0002g0026 a0001c0002t0008g0023 |
3 | HG01884.hp1 HG02258.hp1 HG03041.hp1 |
intron_variant | MODIFIER | c.-22+20993C>T | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15768168 | |||||||
| chr12:15768294 | C | T | 12 | a0001c0002t0001g0069 a0001c0002t0001g0070 a0001c0002t0001g0071 others(9): Show |
12 | HG02055.hp2 HG02109.hp1 HG02145.hp1 others(9): Show |
intron_variant | MODIFIER | c.-22+20867G>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15768294 | |||||||
| chr12:15768424 | C | T | 1 | a0001c0001t0001g0024 | 1 | HG00733.hp2 | intron_variant | MODIFIER | c.-22+20737G>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15768424 | |||||||
| chr12:15768429 | C | CA | 29 | a0001c0001t0001g0005 a0001c0001t0001g0011 a0001c0001t0001g0020 others(26): Show |
29 | HG00597.hp1 HG01261.hp2 HG01884.hp1 others(26): Show |
intron_variant | MODIFIER | c.-22+20731dupT | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15768429 | |||||||
| chr12:15768429 | C | CAA | 11 | a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 others(8): Show |
11 | HG00597.hp2 HG00621.hp1 HG01109.hp2 others(8): Show |
intron_variant | MODIFIER | c.-22+20730_-22+2073 others(6): Show |
EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15768429 | |||||||
| chr12:15768488 | C | T | 29 | a0001c0001t0001g0011 a0001c0001t0001g0016 a0001c0001t0001g0017 others(26): Show |
29 | HG00597.hp2 HG00733.hp2 HG01109.hp2 others(26): Show |
intron_variant | MODIFIER | c.-22+20673G>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15768488 | |||||||
| chr12:15768552 | C | T | 1 | a0001c0009t0001g0088 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.-22+20609G>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15768552 | |||||||
| chr12:15768625 | G | A | 1 | a0001c0010t0004g0007 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.-22+20536C>T | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15768625 | |||||||
| chr12:15768683 | C | T | 10 | a0001c0001t0001g0005 a0001c0001t0001g0021 a0001c0001t0001g0042 others(7): Show |
10 | HG00621.hp2 HG01256.hp2 HG02132.hp1 others(7): Show |
intron_variant | MODIFIER | c.-22+20478G>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15768683 | |||||||
| chr12:15768790 | A | G | 1 | a0001c0002t0001g0006 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.-22+20371T>C | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15768790 | |||||||
| chr12:15769077 | A | G | 1 | a0001c0002t0001g0063 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.-22+20084T>C | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15769077 | |||||||
| chr12:15769171 | G | T | 1 | a0001c0001t0001g0025 | 1 | HG00597.hp2 | intron_variant | MODIFIER | c.-22+19990C>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15769171 | |||||||
| chr12:15769229 | C | T | 1 | a0001c0001t0002g0009 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.-22+19932G>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15769229 | |||||||
| chr12:15769653 | C | T | 2 | a0001c0001t0001g0059 a0001c0001t0009g0058 |
2 | HG02258.hp2 NA18906.hp2 |
intron_variant | MODIFIER | c.-22+19508G>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15769653 | |||||||
| chr12:15769777 | T | C | 1 | a0001c0001t0001g0024 | 1 | HG00733.hp2 | intron_variant | MODIFIER | c.-22+19384A>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15769777 | |||||||
| chr12:15769920 | T | C | 1 | a0001c0001t0001g0025 | 1 | HG00597.hp2 | intron_variant | MODIFIER | c.-22+19241A>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15769920 | |||||||
| chr12:15770288 | C | CA | 66 | a0001c0001t0001g0005 a0001c0001t0001g0020 a0001c0001t0001g0021 others(63): Show |
66 | HG00597.hp1 HG00621.hp1 HG00621.hp2 others(63): Show |
intron_variant | MODIFIER | c.-22+18872dupT | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15770288 | |||||||
| chr12:15770288 | C | CAA | 31 | a0001c0001t0001g0011 a0001c0001t0001g0016 a0001c0001t0001g0017 others(28): Show |
31 | HG00733.hp2 HG01109.hp2 HG01243.hp2 others(28): Show |
intron_variant | MODIFIER | c.-22+18871_-22+1887 others(6): Show |
EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15770288 | |||||||
| chr12:15770504 | C | T | 4 | a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 others(1): Show |
4 | HG01243.hp2 HG02622.hp1 HG02717.hp2 others(1): Show |
intron_variant | MODIFIER | c.-22+18657G>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15770504 | |||||||
| chr12:15770515 | G | C | 12 | a0001c0002t0001g0069 a0001c0002t0001g0070 a0001c0002t0001g0071 others(9): Show |
12 | HG02055.hp2 HG02109.hp1 HG02145.hp1 others(9): Show |
intron_variant | MODIFIER | c.-22+18646C>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15770515 | |||||||
| chr12:15770687 | C | T | 29 | a0001c0001t0001g0011 a0001c0001t0001g0016 a0001c0001t0001g0017 others(26): Show |
29 | HG00597.hp2 HG00733.hp2 HG01109.hp2 others(26): Show |
intron_variant | MODIFIER | c.-22+18474G>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15770687 | |||||||
| chr12:15770919 | G | A | 1 | a0001c0001t0001g0085 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.-22+18242C>T | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15770919 | |||||||
| chr12:15771204 | T | C | 4 | a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 others(1): Show |
4 | HG01243.hp2 HG02622.hp1 HG02717.hp2 others(1): Show |
intron_variant | MODIFIER | c.-22+17957A>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15771204 | |||||||
| chr12:15771266 | G | C | 1 | a0001c0002t0008g0023 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.-22+17895C>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15771266 | |||||||
| chr12:15771426 | T | C | 1 | a0001c0002t0001g0032 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.-22+17735A>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15771426 | |||||||
| chr12:15771556 | G | A | 1 | a0001c0001t0001g0083 | 1 | NA19062.hp2 | intron_variant | MODIFIER | c.-22+17605C>T | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15771556 | |||||||
| chr12:15771559 | G | A | 4 | a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 others(1): Show |
4 | HG01243.hp2 HG02622.hp1 HG02717.hp2 others(1): Show |
intron_variant | MODIFIER | c.-22+17602C>T | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15771559 | |||||||
| chr12:15771764 | C | G | 3 | a0001c0001t0002g0022 a0001c0001t0002g0026 a0001c0002t0008g0023 |
3 | HG01884.hp1 HG02258.hp1 HG03041.hp1 |
intron_variant | MODIFIER | c.-22+17397G>C | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15771764 | |||||||
| chr12:15771796 | C | A | 1 | a0002c0004t0001g0081 | 1 | NA18944.hp1 | intron_variant | MODIFIER | c.-22+17365G>T | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15771796 | |||||||
| chr12:15771848 | G | A | 1 | a0001c0001t0001g0025 | 1 | HG00597.hp2 | intron_variant | MODIFIER | c.-22+17313C>T | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15771848 | |||||||
| chr12:15771866 | T | C | 1 | a0001c0002t0001g0006 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.-22+17295A>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15771866 | |||||||
| chr12:15771973 | A | T | 4 | a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0002t0001g0032 others(1): Show |
4 | HG02559.hp1 HG03486.hp1 HG03516.hp2 others(1): Show |
intron_variant | MODIFIER | c.-22+17188T>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15771973 | |||||||
| chr12:15771985 | A | G | 42 | a0001c0001t0001g0011 a0001c0001t0001g0016 a0001c0001t0001g0017 others(39): Show |
42 | HG00597.hp2 HG00733.hp2 HG01109.hp1 others(39): Show |
intron_variant | MODIFIER | c.-22+17176T>C | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15771985 | |||||||
| chr12:15772090 | C | T | 1 | a0001c0001t0001g0060 | 1 | HG02300.hp2 | intron_variant | MODIFIER | c.-22+17071G>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15772090 | |||||||
| chr12:15772399 | T | G | 7 | a0001c0001t0001g0011 a0001c0001t0002g0009 a0001c0001t0002g0012 others(4): Show |
7 | HG01109.hp2 HG01891.hp1 HG02886.hp1 others(4): Show |
intron_variant | MODIFIER | c.-22+16762A>C | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15772399 | |||||||
| chr12:15772404 | G | A | 1 | a0001c0002t0001g0032 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.-22+16757C>T | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15772404 | |||||||
| chr12:15772580 | C | T | 4 | a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 others(1): Show |
4 | HG01243.hp2 HG02622.hp1 HG02717.hp2 others(1): Show |
intron_variant | MODIFIER | c.-22+16581G>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15772580 | |||||||
| chr12:15772596 | C | A | 7 | a0001c0001t0001g0011 a0001c0001t0002g0009 a0001c0001t0002g0012 others(4): Show |
7 | HG01109.hp2 HG01891.hp1 HG02886.hp1 others(4): Show |
intron_variant | MODIFIER | c.-22+16565G>T | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15772596 | |||||||
| chr12:15772627 | A | G | 3 | a0001c0001t0002g0022 a0001c0001t0002g0026 a0001c0002t0008g0023 |
3 | HG01884.hp1 HG02258.hp1 HG03041.hp1 |
intron_variant | MODIFIER | c.-22+16534T>C | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15772627 | |||||||
| chr12:15772909 | A | C | 4 | a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 others(1): Show |
4 | HG01243.hp2 HG02622.hp1 HG02717.hp2 others(1): Show |
intron_variant | MODIFIER | c.-22+16252T>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15772909 | |||||||
| chr12:15773099 | C | T | 1 | a0001c0001t0001g0024 | 1 | HG00733.hp2 | intron_variant | MODIFIER | c.-22+16062G>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15773099 | |||||||
| chr12:15773136 | A | G | 1 | a0001c0002t0001g0032 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.-22+16025T>C | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15773136 | |||||||
| chr12:15773148 | T | C | 17 | a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0002g0022 others(14): Show |
17 | HG00597.hp2 HG00733.hp2 HG01884.hp1 others(14): Show |
intron_variant | MODIFIER | c.-22+16013A>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15773148 | |||||||
| chr12:15773219 | A | G | 1 | a0001c0002t0001g0032 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.-22+15942T>C | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15773219 | |||||||
| chr12:15773757 | A | G | 1 | a0001c0002t0001g0032 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.-22+15404T>C | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15773757 | |||||||
| chr12:15774147 | A | C | 5 | a0001c0001t0001g0011 a0001c0001t0002g0012 a0001c0001t0002g0013 others(2): Show |
5 | HG01109.hp2 HG02886.hp1 HG03098.hp1 others(2): Show |
intron_variant | MODIFIER | c.-22+15014T>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15774147 | |||||||
| chr12:15774150 | TA | T | 4 | a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 others(1): Show |
4 | HG01243.hp2 HG02622.hp1 HG02717.hp2 others(1): Show |
intron_variant | MODIFIER | c.-22+15010delT | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15774150 | |||||||
| chr12:15774561 | C | CAT | 4 | a0001c0001t0001g0029 a0001c0001t0001g0041 a0001c0001t0010g0049 others(1): Show |
4 | HG00738.hp1 HG01071.hp1 NA19009.hp2 others(1): Show |
intron_variant | MODIFIER | c.-22+14598_-22+1459 others(6): Show |
EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15774561 | |||||||
| chr12:15774561 | CAT | C | 29 | a0001c0001t0001g0011 a0001c0001t0001g0016 a0001c0001t0001g0017 others(26): Show |
29 | HG00597.hp2 HG00733.hp2 HG01109.hp2 others(26): Show |
intron_variant | MODIFIER | c.-22+14598_-22+1459 others(6): Show |
EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15774561 | |||||||
| chr12:15774659 | T | C | 1 | a0001c0002t0001g0006 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.-22+14502A>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15774659 | |||||||
| chr12:15774712 | A | T | 3 | a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0003t0006g0066 |
3 | HG02559.hp1 HG03516.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.-22+14449T>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15774712 | |||||||
| chr12:15774984 | C | T | 1 | a0001c0002t0001g0063 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.-22+14177G>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15774984 | |||||||
| chr12:15775613 | C | CA | 3 | a0001c0001t0002g0022 a0001c0001t0002g0026 a0001c0002t0008g0023 |
3 | HG01884.hp1 HG02258.hp1 HG03041.hp1 |
intron_variant | MODIFIER | c.-22+13547dupT | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15775613 | |||||||
| chr12:15775693 | T | G | 1 | a0001c0002t0001g0006 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.-22+13468A>C | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15775693 | |||||||
| chr12:15775697 | A | C | 1 | a0001c0002t0001g0006 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.-22+13464T>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15775697 | |||||||
| chr12:15775778 | A | T | 1 | a0001c0001t0001g0056 | 1 | HG02132.hp1 | intron_variant | MODIFIER | c.-22+13383T>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15775778 | |||||||
| chr12:15776183 | T | C | 13 | a0001c0002t0001g0006 a0001c0002t0001g0069 a0001c0002t0001g0070 others(10): Show |
13 | HG02055.hp2 HG02109.hp1 HG02145.hp1 others(10): Show |
intron_variant | MODIFIER | c.-22+12978A>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15776183 | |||||||
| chr12:15776551 | G | A | 3 | a0001c0001t0002g0022 a0001c0001t0002g0026 a0001c0002t0008g0023 |
3 | HG01884.hp1 HG02258.hp1 HG03041.hp1 |
intron_variant | MODIFIER | c.-22+12610C>T | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15776551 | |||||||
| chr12:15776719 | A | G | 1 | a0001c0002t0001g0006 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.-22+12442T>C | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15776719 | |||||||
| chr12:15776859 | T | C | 4 | a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 others(1): Show |
4 | HG01243.hp2 HG02622.hp1 HG02717.hp2 others(1): Show |
intron_variant | MODIFIER | c.-22+12302A>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15776859 | |||||||
| chr12:15777025 | A | G | 12 | a0001c0002t0001g0069 a0001c0002t0001g0070 a0001c0002t0001g0071 others(9): Show |
12 | HG02055.hp2 HG02109.hp1 HG02145.hp1 others(9): Show |
intron_variant | MODIFIER | c.-22+12136T>C | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15777025 | |||||||
| chr12:15777053 | G | T | 1 | a0001c0001t0001g0042 | 1 | NA19009.hp1 | intron_variant | MODIFIER | c.-22+12108C>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15777053 | |||||||
| chr12:15777113 | A | T | 4 | a0001c0001t0003g0004 a0001c0002t0003g0001 a0001c0002t0003g0002 others(1): Show |
4 | HG01109.hp1 HG02055.hp1 NA18906.hp1 others(1): Show |
intron_variant | MODIFIER | c.-22+12048T>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15777113 | |||||||
| chr12:15777155 | A | G | 1 | a0001c0001t0001g0090 | 1 | HG00738.hp2 | intron_variant | MODIFIER | c.-22+12006T>C | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15777155 | |||||||
| chr12:15777176 | T | C | 2 | a0001c0001t0001g0052 a0001c0001t0001g0060 |
2 | HG02300.hp2 NA20300.hp2 |
intron_variant | MODIFIER | c.-22+11985A>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15777176 | |||||||
| chr12:15777278 | A | C | 8 | a0001c0001t0001g0085 a0001c0001t0001g0090 a0001c0001t0001g0091 others(5): Show |
8 | HG00597.hp1 HG00621.hp1 HG00738.hp2 others(5): Show |
intron_variant | MODIFIER | c.-22+11883T>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15777278 | |||||||
| chr12:15777432 | G | A | 6 | a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0094 others(3): Show |
6 | HG01256.hp1 HG03017.hp1 HG03017.hp2 others(3): Show |
intron_variant | MODIFIER | c.-22+11729C>T | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15777432 | |||||||
| chr12:15777806 | C | T | 1 | a0001c0001t0001g0020 | 1 | HG01261.hp2 | intron_variant | MODIFIER | c.-22+11355G>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15777806 | |||||||
| chr12:15778207 | T | C | 3 | a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0003t0006g0066 |
3 | HG02559.hp1 HG03516.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.-22+10954A>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15778207 | |||||||
| chr12:15778209 | C | G | 1 | a0001c0002t0001g0006 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.-22+10952G>C | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15778209 | |||||||
| chr12:15778300 | G | A | 1 | a0001c0002t0001g0053 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.-22+10861C>T | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15778300 | |||||||
| chr12:15778731 | G | A | 1 | a0001c0002t0001g0040 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.-22+10430C>T | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15778731 | |||||||
| chr12:15778823 | T | C | 4 | a0001c0001t0003g0004 a0001c0002t0003g0001 a0001c0002t0003g0002 others(1): Show |
4 | HG01109.hp1 HG02055.hp1 NA18906.hp1 others(1): Show |
intron_variant | MODIFIER | c.-22+10338A>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15778823 | |||||||
| chr12:15778928 | C | T | 3 | a0001c0001t0002g0022 a0001c0001t0002g0026 a0001c0002t0008g0023 |
3 | HG01884.hp1 HG02258.hp1 HG03041.hp1 |
intron_variant | MODIFIER | c.-22+10233G>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15778928 | |||||||
| chr12:15779171 | C | T | 29 | a0001c0001t0001g0011 a0001c0001t0001g0016 a0001c0001t0001g0017 others(26): Show |
29 | HG00597.hp2 HG00733.hp2 HG01109.hp2 others(26): Show |
intron_variant | MODIFIER | c.-22+9990G>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15779171 | |||||||
| chr12:15779220 | C | T | 4 | a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 others(1): Show |
4 | HG01243.hp2 HG02622.hp1 HG02717.hp2 others(1): Show |
intron_variant | MODIFIER | c.-22+9941G>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15779220 | |||||||
| chr12:15779492 | T | C | 7 | a0001c0001t0001g0011 a0001c0001t0002g0009 a0001c0001t0002g0012 others(4): Show |
7 | HG01109.hp2 HG01891.hp1 HG02886.hp1 others(4): Show |
intron_variant | MODIFIER | c.-22+9669A>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15779492 | |||||||
| chr12:15779504 | C | T | 1 | a0001c0001t0001g0027 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.-22+9657G>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15779504 | |||||||
| chr12:15779581 | T | C | 4 | a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 others(1): Show |
4 | HG01243.hp2 HG02622.hp1 HG02717.hp2 others(1): Show |
intron_variant | MODIFIER | c.-22+9580A>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15779581 | |||||||
| chr12:15779829 | A | G | 7 | a0001c0001t0001g0011 a0001c0001t0002g0009 a0001c0001t0002g0012 others(4): Show |
7 | HG01109.hp2 HG01891.hp1 HG02886.hp1 others(4): Show |
intron_variant | MODIFIER | c.-22+9332T>C | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15779829 | |||||||
| chr12:15779885 | T | C | 1 | a0001c0002t0001g0006 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.-22+9276A>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15779885 | |||||||
| chr12:15780239 | GTTCT | G | 7 | a0001c0001t0001g0011 a0001c0001t0002g0009 a0001c0001t0002g0012 others(4): Show |
7 | HG01109.hp2 HG01891.hp1 HG02886.hp1 others(4): Show |
intron_variant | MODIFIER | c.-22+8918_-22+8921d others(6): Show |
EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15780239 | |||||||
| chr12:15780256 | C | T | 29 | a0001c0001t0001g0011 a0001c0001t0001g0016 a0001c0001t0001g0017 others(26): Show |
29 | HG00597.hp2 HG00733.hp2 HG01109.hp2 others(26): Show |
intron_variant | MODIFIER | c.-22+8905G>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15780256 | |||||||
| chr12:15780257 | G | A | 33 | a0001c0001t0001g0011 a0001c0001t0001g0020 a0001c0001t0001g0029 others(30): Show |
33 | HG00597.hp1 HG00621.hp1 HG00738.hp1 others(30): Show |
intron_variant | MODIFIER | c.-22+8904C>T | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15780257 | |||||||
| chr12:15780350 | GGAGA | G | 3 | a0001c0001t0002g0022 a0001c0001t0002g0026 a0001c0002t0008g0023 |
3 | HG01884.hp1 HG02258.hp1 HG03041.hp1 |
intron_variant | MODIFIER | c.-22+8807_-22+8810d others(6): Show |
EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15780350 | |||||||
| chr12:15780481 | A | AAC | 11 | a0001c0001t0001g0020 a0001c0001t0001g0029 a0001c0001t0001g0052 others(8): Show |
11 | HG00733.hp1 HG01071.hp1 HG01261.hp2 others(8): Show |
intron_variant | MODIFIER | c.-22+8678_-22+8679d others(4): Show |
EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15780481 | |||||||
| chr12:15780481 | A | AACAC | 19 | a0001c0001t0001g0021 a0001c0001t0001g0027 a0001c0001t0001g0042 others(16): Show |
19 | HG00621.hp2 HG01109.hp2 HG01256.hp2 others(16): Show |
intron_variant | MODIFIER | c.-22+8676_-22+8679d others(6): Show |
EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15780481 | |||||||
| chr12:15780481 | A | AACACAC | 23 | a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0041 others(20): Show |
23 | HG00597.hp1 HG00621.hp1 HG00738.hp1 others(20): Show |
intron_variant | MODIFIER | c.-22+8674_-22+8679d others(8): Show |
EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15780481 | |||||||
| chr12:15780481 | A | AACACACA others(1): Show |
7 | a0001c0001t0001g0005 a0001c0001t0001g0085 a0001c0001t0001g0086 others(4): Show |
7 | HG02300.hp1 HG02622.hp2 HG03017.hp1 others(4): Show |
intron_variant | MODIFIER | c.-22+8672_-22+8679d others(10): Show |
EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15780481 | |||||||
| chr12:15780481 | A | AACACACA others(3): Show |
1 | a0001c0001t0007g0084 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.-22+8670_-22+8679d others(12): Show |
EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15780481 | |||||||
| chr12:15780481 | A | AACACACA others(5): Show |
2 | a0001c0001t0001g0082 a0001c0001t0001g0083 |
2 | HG03017.hp2 NA19062.hp2 |
intron_variant | MODIFIER | c.-22+8668_-22+8679d others(14): Show |
EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15780481 | |||||||
| chr12:15780481 | A | ACACACAC others(4): Show |
1 | a0002c0004t0001g0081 | 1 | NA18944.hp1 | intron_variant | MODIFIER | c.-22+8679_-22+8680i others(13): Show |
EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15780481 | |||||||
| chr12:15780481 | AAC | A | 5 | a0001c0001t0001g0011 a0001c0001t0003g0004 a0001c0002t0001g0010 others(2): Show |
5 | HG02922.hp2 HG03041.hp2 HG03130.hp1 others(2): Show |
intron_variant | MODIFIER | c.-22+8678_-22+8679d others(4): Show |
EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15780481 | |||||||
| chr12:15780481 | AACAC | A | 10 | a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 others(7): Show |
10 | HG01243.hp2 HG02132.hp2 HG02622.hp1 others(7): Show |
intron_variant | MODIFIER | c.-22+8676_-22+8679d others(6): Show |
EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15780481 | |||||||
| chr12:15780481 | AACACAC | A | 13 | a0001c0001t0001g0064 a0001c0001t0001g0067 a0001c0001t0001g0068 others(10): Show |
13 | HG01071.hp2 HG02055.hp2 HG02109.hp1 others(10): Show |
intron_variant | MODIFIER | c.-22+8674_-22+8679d others(8): Show |
EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15780481 | |||||||
| chr12:15780481 | AACACACA others(1): Show |
A | 2 | a0001c0002t0001g0080 a0002c0004t0001g0079 |
2 | HG02630.hp2 HG03098.hp2 |
intron_variant | MODIFIER | c.-22+8672_-22+8679d others(10): Show |
EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15780481 | |||||||
| chr12:15780481 | AACACACA others(3): Show |
A | 1 | a0001c0001t0001g0025 | 1 | HG00597.hp2 | intron_variant | MODIFIER | c.-22+8670_-22+8679d others(12): Show |
EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15780481 | |||||||
| chr12:15780481 | AACACACA others(7): Show |
A | 1 | a0001c0001t0001g0024 | 1 | HG00733.hp2 | intron_variant | MODIFIER | c.-22+8666_-22+8679d others(16): Show |
EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15780481 | |||||||
| chr12:15780786 | G | A | 1 | a0001c0007t0012g0015 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.-22+8375C>T | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15780786 | |||||||
| chr12:15780980 | G | A | 1 | a0001c0002t0001g0065 | 1 | NA19087.hp1 | intron_variant | MODIFIER | c.-22+8181C>T | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15780980 | |||||||
| chr12:15781329 | C | T | 1 | a0001c0001t0001g0025 | 1 | HG00597.hp2 | intron_variant | MODIFIER | c.-22+7832G>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15781329 | |||||||
| chr12:15781426 | G | A | 12 | a0001c0002t0001g0069 a0001c0002t0001g0070 a0001c0002t0001g0071 others(9): Show |
12 | HG02055.hp2 HG02109.hp1 HG02145.hp1 others(9): Show |
intron_variant | MODIFIER | c.-22+7735C>T | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15781426 | |||||||
| chr12:15782013 | C | T | 2 | a0001c0001t0001g0029 a0004c0008t0001g0028 |
2 | HG00738.hp1 HG01071.hp1 |
intron_variant | MODIFIER | c.-22+7148G>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15782013 | |||||||
| chr12:15782639 | A | C | 16 | a0001c0001t0001g0024 a0001c0001t0002g0022 a0001c0001t0002g0026 others(13): Show |
16 | HG00733.hp2 HG01884.hp1 HG02055.hp2 others(13): Show |
intron_variant | MODIFIER | c.-22+6522T>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15782639 | |||||||
| chr12:15782882 | T | C | 1 | a0001c0002t0001g0006 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.-22+6279A>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15782882 | |||||||
| chr12:15783344 | G | A | 12 | a0001c0001t0001g0011 a0001c0001t0001g0016 a0001c0001t0001g0017 others(9): Show |
12 | HG01109.hp2 HG01243.hp2 HG01891.hp1 others(9): Show |
intron_variant | MODIFIER | c.-22+5817C>T | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15783344 | |||||||
| chr12:15783438 | C | T | 1 | a0001c0001t0001g0025 | 1 | HG00597.hp2 | intron_variant | MODIFIER | c.-22+5723G>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15783438 | |||||||
| chr12:15783553 | A | G | 1 | a0001c0001t0001g0027 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.-22+5608T>C | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15783553 | |||||||
| chr12:15783715 | TA | T | 9 | a0001c0001t0001g0011 a0001c0001t0001g0083 a0001c0001t0002g0009 others(6): Show |
9 | HG01109.hp2 HG01891.hp1 HG02886.hp1 others(6): Show |
intron_variant | MODIFIER | c.-22+5445delT | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15783715 | |||||||
| chr12:15783715 | TAA | T | 6 | a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 others(3): Show |
6 | HG00597.hp2 HG01243.hp2 HG02258.hp1 others(3): Show |
intron_variant | MODIFIER | c.-22+5444_-22+5445d others(4): Show |
EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15783715 | |||||||
| chr12:15783715 | TAAA | T | 15 | a0001c0001t0001g0024 a0001c0001t0002g0022 a0001c0002t0001g0069 others(12): Show |
15 | HG00733.hp2 HG01884.hp1 HG02055.hp2 others(12): Show |
intron_variant | MODIFIER | c.-22+5443_-22+5445d others(5): Show |
EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15783715 | |||||||
| chr12:15783740 | A | C | 4 | a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 others(1): Show |
4 | HG01243.hp2 HG02622.hp1 HG02717.hp2 others(1): Show |
intron_variant | MODIFIER | c.-22+5421T>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15783740 | |||||||
| chr12:15783889 | C | T | 1 | a0001c0001t0001g0021 | 1 | HG01256.hp2 | intron_variant | MODIFIER | c.-22+5272G>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15783889 | |||||||
| chr12:15784139 | G | T | 1 | a0001c0001t0001g0020 | 1 | HG01261.hp2 | intron_variant | MODIFIER | c.-22+5022C>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15784139 | |||||||
| chr12:15784525 | C | A | 3 | a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0003t0006g0066 |
3 | HG02559.hp1 HG03516.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.-22+4636G>T | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15784525 | |||||||
| chr12:15785010 | C | T | 4 | a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 others(1): Show |
4 | HG01243.hp2 HG02622.hp1 HG02717.hp2 others(1): Show |
intron_variant | MODIFIER | c.-22+4151G>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15785010 | |||||||
| chr12:15785026 | T | C | 12 | a0001c0002t0001g0069 a0001c0002t0001g0070 a0001c0002t0001g0071 others(9): Show |
12 | HG02055.hp2 HG02109.hp1 HG02145.hp1 others(9): Show |
intron_variant | MODIFIER | c.-22+4135A>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15785026 | |||||||
| chr12:15785177 | C | G | 4 | a0001c0001t0003g0004 a0001c0002t0003g0001 a0001c0002t0003g0002 others(1): Show |
4 | HG01109.hp1 HG02055.hp1 NA18906.hp1 others(1): Show |
intron_variant | MODIFIER | c.-22+3984G>C | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15785177 | |||||||
| chr12:15785542 | A | C | 1 | a0001c0002t0001g0006 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.-22+3619T>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15785542 | |||||||
| chr12:15785691 | C | T | 1 | a0001c0007t0012g0015 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.-22+3470G>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15785691 | |||||||
| chr12:15785781 | AAAGT | A | 7 | a0001c0001t0001g0011 a0001c0001t0002g0009 a0001c0001t0002g0012 others(4): Show |
7 | HG01109.hp2 HG01891.hp1 HG02886.hp1 others(4): Show |
intron_variant | MODIFIER | c.-22+3376_-22+3379d others(6): Show |
EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15785781 | |||||||
| chr12:15785970 | A | C | 1 | a0001c0002t0005g0014 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.-22+3191T>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15785970 | |||||||
| chr12:15786848 | G | A | 2 | a0001c0001t0001g0101 a0001c0001t0001g0102 |
2 | NA18978.hp2 NA19063.hp1 |
intron_variant | MODIFIER | c.-22+2313C>T | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15786848 | |||||||
| chr12:15787060 | A | T | 1 | a0001c0001t0001g0082 | 1 | HG03017.hp2 | intron_variant | MODIFIER | c.-22+2101T>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15787060 | |||||||
| chr12:15787172 | G | A | 1 | a0002c0004t0001g0081 | 1 | NA18944.hp1 | intron_variant | MODIFIER | c.-22+1989C>T | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15787172 | |||||||
| chr12:15787514 | G | T | 7 | a0001c0001t0001g0011 a0001c0001t0002g0009 a0001c0001t0002g0012 others(4): Show |
7 | HG01109.hp2 HG01891.hp1 HG02886.hp1 others(4): Show |
intron_variant | MODIFIER | c.-22+1647C>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15787514 | |||||||
| chr12:15787595 | A | C | 3 | a0001c0002t0003g0001 a0001c0002t0003g0002 a0001c0002t0003g0003 |
3 | HG01109.hp1 HG02055.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.-22+1566T>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15787595 | |||||||
| chr12:15787762 | CA | C | 7 | a0001c0001t0001g0011 a0001c0001t0002g0009 a0001c0001t0002g0012 others(4): Show |
7 | HG01109.hp2 HG01891.hp1 HG02886.hp1 others(4): Show |
intron_variant | MODIFIER | c.-22+1398delT | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15787762 | |||||||
| chr12:15787836 | T | C | 1 | a0001c0002t0001g0006 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.-22+1325A>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15787836 | |||||||
| chr12:15788119 | C | T | 1 | a0001c0010t0004g0007 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.-22+1042G>A | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15788119 | |||||||
| chr12:15788236 | A | G | 7 | a0001c0001t0001g0011 a0001c0001t0002g0009 a0001c0001t0002g0012 others(4): Show |
7 | HG01109.hp2 HG01891.hp1 HG02886.hp1 others(4): Show |
intron_variant | MODIFIER | c.-22+925T>C | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15788236 | |||||||
| chr12:15788434 | G | C | 20 | a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0085 others(17): Show |
20 | HG00597.hp1 HG00621.hp1 HG00738.hp2 others(17): Show |
intron_variant | MODIFIER | c.-22+727C>G | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15788434 | |||||||
| chr12:15788487 | A | G | 1 | a0001c0002t0001g0006 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.-22+674T>C | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15788487 | |||||||
| chr12:15788550 | A | G | 1 | a0001c0001t0001g0005 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.-22+611T>C | EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | 15788550 |