Search by Genic region
Multiple Alignments (by aa haplotype frequency)
Multiple Alignments (by aa haplotype similarity)
| Item | Value |
|---|---|
| geneid | 54869 |
| ensemblid | ENSG00000131037.15 |
| hgncid | 21295 |
| symbol | EPS8L1 |
| name | EPS8 like 1 |
| refseq_nuc | NM_133180.3 |
| refseq_prot | NP_573441.2 |
| ensembl_nuc | ENST00000201647.11 |
| ensembl_prot | ENSP00000201647.5 |
| mane_status | MANE Select |
| chr | chr19 |
| start | 55075869 |
| end | 55087923 |
| strand | + |
| ver | v1.2 |
| region | chr19:55075869-55087923 |
| region5000 | chr19:55070869-55092923 |
| regionname0 | EPS8L1_chr19_55075869_55087923 |
| regionname5000 | EPS8L1_chr19_55070869_55092923 |
| ahapid | grch38/chm13v2 | alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001 | 1/1 | 723 | 191 | 57 | 44 | 67 | 4 | 17 | 42 | EPS8L1_chr19_55070869_55092923 | EPS8L1 | MSTAT others(718): Show |
chr19 | 55070869 | 55092923 |
| a0002 | 0/0 | 723 | 92 | 16 | 12 | 41 | 2 | 21 | 27 | EPS8L1_chr19_55070869_55092923 | EPS8L1 | MSTAT others(718): Show |
chr19 | 55070869 | 55092923 |
| a0003 | 0/0 | 723 | 30 | 1 | 11 | 14 | 2 | 2 | 11 | EPS8L1_chr19_55070869_55092923 | EPS8L1 | MSTTT others(718): Show |
chr19 | 55070869 | 55092923 |
| a0004 | 0/0 | 723 | 13 | 8 | 3 | 2 | 0 | 0 | 2 | EPS8L1_chr19_55070869_55092923 | EPS8L1 | MSTAT others(718): Show |
chr19 | 55070869 | 55092923 |
| a0005 | 0/0 | 723 | 4 | 4 | 0 | 0 | 0 | 0 | 0 | EPS8L1_chr19_55070869_55092923 | EPS8L1 | MSTAT others(718): Show |
chr19 | 55070869 | 55092923 |
| a0006 | 0/0 | 723 | 3 | 3 | 0 | 0 | 0 | 0 | 0 | EPS8L1_chr19_55070869_55092923 | EPS8L1 | MSTAT others(718): Show |
chr19 | 55070869 | 55092923 |
| a0007 | 0/0 | 723 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | EPS8L1_chr19_55070869_55092923 | EPS8L1 | MSTTT others(718): Show |
chr19 | 55070869 | 55092923 |
| a0008 | 0/0 | 723 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | EPS8L1_chr19_55070869_55092923 | EPS8L1 | MSTTT others(718): Show |
chr19 | 55070869 | 55092923 |
| a0009 | 0/0 | 723 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | EPS8L1_chr19_55070869_55092923 | EPS8L1 | MSTAT others(718): Show |
chr19 | 55070869 | 55092923 |
| a0010 | 0/0 | 723 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | EPS8L1_chr19_55070869_55092923 | EPS8L1 | MSTAT others(718): Show |
chr19 | 55070869 | 55092923 |
| a0011 | 0/0 | 723 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | EPS8L1_chr19_55070869_55092923 | EPS8L1 | MSTAT others(718): Show |
chr19 | 55070869 | 55092923 |
| a0012 | 0/0 | 723 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | EPS8L1_chr19_55070869_55092923 | EPS8L1 | MSTAT others(718): Show |
chr19 | 55070869 | 55092923 |
| a0013 | 0/0 | 723 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | EPS8L1_chr19_55070869_55092923 | EPS8L1 | MSTAT others(718): Show |
chr19 | 55070869 | 55092923 |
| achapid | grch38/chm13v2 | alen | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | aseq | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001 | 1/1 | 2169 | 186 | 53 | 43 | 67 | 4 | 17 | EPS8L1_chr19_55070869_55092923 | EPS8L1 | ATGAG others(2164): Show |
chr19 | 55070869 | 55092923 | ||
| a0001c0006 | 0/0 | 2169 | 2 | 2 | 0 | 0 | 0 | 0 | EPS8L1_chr19_55070869_55092923 | EPS8L1 | ATGAG others(2164): Show |
chr19 | 55070869 | 55092923 | ||
| a0001c0008 | 0/0 | 2169 | 2 | 2 | 0 | 0 | 0 | 0 | EPS8L1_chr19_55070869_55092923 | EPS8L1 | ATGAG others(2164): Show |
chr19 | 55070869 | 55092923 | ||
| a0001c0012 | 0/0 | 2169 | 1 | 0 | 1 | 0 | 0 | 0 | EPS8L1_chr19_55070869_55092923 | EPS8L1 | ATGAG others(2164): Show |
chr19 | 55070869 | 55092923 | ||
| a0002c0002 | 0/0 | 2169 | 91 | 16 | 12 | 41 | 1 | 21 | EPS8L1_chr19_55070869_55092923 | EPS8L1 | ATGAG others(2164): Show |
chr19 | 55070869 | 55092923 | ||
| a0002c0018 | 0/0 | 2169 | 1 | 0 | 0 | 0 | 1 | 0 | EPS8L1_chr19_55070869_55092923 | EPS8L1 | ATGAG others(2164): Show |
chr19 | 55070869 | 55092923 | ||
| a0003c0003 | 0/0 | 2169 | 30 | 1 | 11 | 14 | 2 | 2 | EPS8L1_chr19_55070869_55092923 | EPS8L1 | ATGAG others(2164): Show |
chr19 | 55070869 | 55092923 | ||
| a0004c0004 | 0/0 | 2169 | 13 | 8 | 3 | 2 | 0 | 0 | EPS8L1_chr19_55070869_55092923 | EPS8L1 | ATGAG others(2164): Show |
chr19 | 55070869 | 55092923 | ||
| a0005c0005 | 0/0 | 2169 | 4 | 4 | 0 | 0 | 0 | 0 | EPS8L1_chr19_55070869_55092923 | EPS8L1 | ATGAG others(2164): Show |
chr19 | 55070869 | 55092923 | ||
| a0006c0007 | 0/0 | 2169 | 2 | 2 | 0 | 0 | 0 | 0 | EPS8L1_chr19_55070869_55092923 | EPS8L1 | ATGAG others(2164): Show |
chr19 | 55070869 | 55092923 | ||
| a0006c0017 | 0/0 | 2169 | 1 | 1 | 0 | 0 | 0 | 0 | EPS8L1_chr19_55070869_55092923 | EPS8L1 | ATGAG others(2164): Show |
chr19 | 55070869 | 55092923 | ||
| a0007c0010 | 0/0 | 2169 | 1 | 1 | 0 | 0 | 0 | 0 | EPS8L1_chr19_55070869_55092923 | EPS8L1 | ATGAG others(2164): Show |
chr19 | 55070869 | 55092923 | ||
| a0008c0009 | 0/0 | 2169 | 1 | 1 | 0 | 0 | 0 | 0 | EPS8L1_chr19_55070869_55092923 | EPS8L1 | ATGAG others(2164): Show |
chr19 | 55070869 | 55092923 | ||
| a0009c0013 | 0/0 | 2169 | 1 | 1 | 0 | 0 | 0 | 0 | EPS8L1_chr19_55070869_55092923 | EPS8L1 | ATGAG others(2164): Show |
chr19 | 55070869 | 55092923 | ||
| a0010c0011 | 0/0 | 2169 | 1 | 1 | 0 | 0 | 0 | 0 | EPS8L1_chr19_55070869_55092923 | EPS8L1 | ATGAG others(2164): Show |
chr19 | 55070869 | 55092923 | ||
| a0011c0016 | 0/0 | 2169 | 1 | 0 | 0 | 1 | 0 | 0 | EPS8L1_chr19_55070869_55092923 | EPS8L1 | ATGAG others(2164): Show |
chr19 | 55070869 | 55092923 | ||
| a0012c0014 | 0/0 | 2169 | 1 | 0 | 0 | 1 | 0 | 0 | EPS8L1_chr19_55070869_55092923 | EPS8L1 | ATGAG others(2164): Show |
chr19 | 55070869 | 55092923 | ||
| a0013c0015 | 0/0 | 2169 | 1 | 1 | 0 | 0 | 0 | 0 | EPS8L1_chr19_55070869_55092923 | EPS8L1 | ATGAG others(2164): Show |
chr19 | 55070869 | 55092923 |
| acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001 | 1/1 | 2569 | 185 | 52 | 43 | 67 | 4 | 17 | EPS8L1_chr19_55070869_55092923 | EPS8L1 | AGCCT others(2564): Show |
chr19 | 55070869 | 55092923 |
| a0001c0001t0002 | 0/0 | 2569 | 1 | 1 | 0 | 0 | 0 | 0 | EPS8L1_chr19_55070869_55092923 | EPS8L1 | AGCCT others(2564): Show |
chr19 | 55070869 | 55092923 |
| a0001c0006t0001 | 0/0 | 2569 | 2 | 2 | 0 | 0 | 0 | 0 | EPS8L1_chr19_55070869_55092923 | EPS8L1 | AGCCT others(2564): Show |
chr19 | 55070869 | 55092923 |
| a0001c0008t0001 | 0/0 | 2569 | 2 | 2 | 0 | 0 | 0 | 0 | EPS8L1_chr19_55070869_55092923 | EPS8L1 | AGCCT others(2564): Show |
chr19 | 55070869 | 55092923 |
| a0001c0012t0001 | 0/0 | 2569 | 1 | 0 | 1 | 0 | 0 | 0 | EPS8L1_chr19_55070869_55092923 | EPS8L1 | AGCCT others(2564): Show |
chr19 | 55070869 | 55092923 |
| a0002c0002t0001 | 0/0 | 2569 | 90 | 16 | 11 | 41 | 1 | 21 | EPS8L1_chr19_55070869_55092923 | EPS8L1 | AGCCT others(2564): Show |
chr19 | 55070869 | 55092923 |
| a0002c0002t0003 | 0/0 | 2569 | 1 | 0 | 1 | 0 | 0 | 0 | EPS8L1_chr19_55070869_55092923 | EPS8L1 | AGCCT others(2564): Show |
chr19 | 55070869 | 55092923 |
| a0002c0018t0001 | 0/0 | 2569 | 1 | 0 | 0 | 0 | 1 | 0 | EPS8L1_chr19_55070869_55092923 | EPS8L1 | AGCCT others(2564): Show |
chr19 | 55070869 | 55092923 |
| a0003c0003t0001 | 0/0 | 2569 | 29 | 1 | 10 | 14 | 2 | 2 | EPS8L1_chr19_55070869_55092923 | EPS8L1 | AGCCT others(2564): Show |
chr19 | 55070869 | 55092923 |
| a0003c0003t0004 | 0/0 | 2569 | 1 | 0 | 1 | 0 | 0 | 0 | EPS8L1_chr19_55070869_55092923 | EPS8L1 | AGCCT others(2564): Show |
chr19 | 55070869 | 55092923 |
| a0004c0004t0001 | 0/0 | 2569 | 13 | 8 | 3 | 2 | 0 | 0 | EPS8L1_chr19_55070869_55092923 | EPS8L1 | AGCCT others(2564): Show |
chr19 | 55070869 | 55092923 |
| a0005c0005t0001 | 0/0 | 2569 | 4 | 4 | 0 | 0 | 0 | 0 | EPS8L1_chr19_55070869_55092923 | EPS8L1 | AGCCT others(2564): Show |
chr19 | 55070869 | 55092923 |
| a0006c0007t0001 | 0/0 | 2569 | 2 | 2 | 0 | 0 | 0 | 0 | EPS8L1_chr19_55070869_55092923 | EPS8L1 | AGCCT others(2564): Show |
chr19 | 55070869 | 55092923 |
| a0006c0017t0001 | 0/0 | 2569 | 1 | 1 | 0 | 0 | 0 | 0 | EPS8L1_chr19_55070869_55092923 | EPS8L1 | AGCCT others(2564): Show |
chr19 | 55070869 | 55092923 |
| a0007c0010t0001 | 0/0 | 2569 | 1 | 1 | 0 | 0 | 0 | 0 | EPS8L1_chr19_55070869_55092923 | EPS8L1 | AGCCT others(2564): Show |
chr19 | 55070869 | 55092923 |
| a0008c0009t0001 | 0/0 | 2569 | 1 | 1 | 0 | 0 | 0 | 0 | EPS8L1_chr19_55070869_55092923 | EPS8L1 | AGCCT others(2564): Show |
chr19 | 55070869 | 55092923 |
| a0009c0013t0001 | 0/0 | 2569 | 1 | 1 | 0 | 0 | 0 | 0 | EPS8L1_chr19_55070869_55092923 | EPS8L1 | AGCCT others(2564): Show |
chr19 | 55070869 | 55092923 |
| a0010c0011t0001 | 0/0 | 2569 | 1 | 1 | 0 | 0 | 0 | 0 | EPS8L1_chr19_55070869_55092923 | EPS8L1 | AGCCT others(2564): Show |
chr19 | 55070869 | 55092923 |
| a0011c0016t0001 | 0/0 | 2569 | 1 | 0 | 0 | 1 | 0 | 0 | EPS8L1_chr19_55070869_55092923 | EPS8L1 | AGCCT others(2564): Show |
chr19 | 55070869 | 55092923 |
| a0012c0014t0001 | 0/0 | 2569 | 1 | 0 | 0 | 1 | 0 | 0 | EPS8L1_chr19_55070869_55092923 | EPS8L1 | AGCCT others(2564): Show |
chr19 | 55070869 | 55092923 |
| a0013c0015t0001 | 0/0 | 2569 | 1 | 1 | 0 | 0 | 0 | 0 | EPS8L1_chr19_55070869_55092923 | EPS8L1 | AGCCT others(2564): Show |
chr19 | 55070869 | 55092923 |
| actghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001g0001 | 0/0 | 29 | 6 | 9 | 9 | 1 | 4 | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| a0001c0001t0001g0003 | 0/0 | 12 | 0 | 2 | 8 | 0 | 2 | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| a0001c0001t0001g0005 | 0/0 | 9 | 0 | 8 | 0 | 0 | 1 | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| a0001c0001t0001g0006 | 0/0 | 9 | 1 | 4 | 4 | 0 | 0 | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| a0001c0001t0001g0009 | 0/0 | 7 | 6 | 1 | 0 | 0 | 0 | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| a0001c0001t0001g0011 | 0/0 | 5 | 5 | 0 | 0 | 0 | 0 | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| a0001c0001t0001g0012 | 0/0 | 6 | 0 | 0 | 6 | 0 | 0 | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| a0001c0001t0001g0013 | 0/0 | 5 | 0 | 3 | 0 | 1 | 1 | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| a0001c0001t0001g0014 | 0/0 | 5 | 1 | 0 | 4 | 0 | 0 | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| a0001c0001t0001g0015 | 0/0 | 5 | 3 | 2 | 0 | 0 | 0 | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| a0001c0001t0001g0021 | 0/0 | 4 | 0 | 0 | 4 | 0 | 0 | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| a0001c0001t0001g0022 | 0/0 | 4 | 0 | 0 | 2 | 0 | 2 | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| a0001c0001t0001g0023 | 0/0 | 4 | 3 | 1 | 0 | 0 | 0 | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| a0001c0001t0001g0028 | 0/0 | 3 | 0 | 2 | 1 | 0 | 0 | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| a0001c0001t0001g0029 | 0/0 | 3 | 3 | 0 | 0 | 0 | 0 | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| a0001c0001t0001g0030 | 0/0 | 3 | 0 | 0 | 3 | 0 | 0 | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| a0001c0001t0001g0031 | 0/0 | 3 | 3 | 0 | 0 | 0 | 0 | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| a0001c0001t0001g0032 | 0/0 | 3 | 0 | 1 | 2 | 0 | 0 | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| a0001c0001t0001g0033 | 0/0 | 3 | 0 | 2 | 1 | 0 | 0 | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| a0001c0001t0001g0035 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| a0001c0001t0001g0038 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| a0001c0001t0001g0039 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| a0001c0001t0001g0040 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| a0001c0001t0001g0041 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| a0001c0001t0001g0042 | 0/0 | 2 | 1 | 1 | 0 | 0 | 0 | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| a0001c0001t0001g0043 | 0/0 | 2 | 0 | 1 | 1 | 0 | 0 | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| a0001c0001t0001g0044 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| a0001c0001t0001g0045 | 0/0 | 2 | 0 | 1 | 0 | 1 | 0 | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| a0001c0001t0001g0046 | 0/0 | 2 | 0 | 0 | 0 | 0 | 2 | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| a0001c0001t0001g0048 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| a0001c0001t0001g0070 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| a0001c0001t0001g0071 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| a0001c0001t0001g0072 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| a0001c0001t0001g0073 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| a0001c0001t0001g0074 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| a0001c0001t0001g0075 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| a0001c0001t0001g0080 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| a0001c0001t0001g0082 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| a0001c0001t0001g0083 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| a0001c0001t0001g0087 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| a0001c0001t0001g0088 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| a0001c0001t0001g0089 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| a0001c0001t0001g0091 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| a0001c0001t0001g0092 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| a0001c0001t0001g0093 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| a0001c0001t0001g0094 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| a0001c0001t0001g0095 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| a0001c0001t0001g0096 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| a0001c0001t0001g0097 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| a0001c0001t0001g0098 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| a0001c0001t0001g0099 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| a0001c0001t0001g0100 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| a0001c0001t0001g0101 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| a0001c0001t0001g0102 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| a0001c0001t0001g0103 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| a0001c0001t0001g0105 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| a0001c0001t0001g0106 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| a0001c0001t0001g0107 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| a0001c0001t0001g0110 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| a0001c0001t0001g0112 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| a0001c0001t0001g0113 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| a0001c0001t0001g0114 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| a0001c0001t0001g0115 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| a0001c0001t0001g0116 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| a0001c0001t0001g0117 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| a0001c0001t0001g0118 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| a0001c0001t0001g0119 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| a0001c0001t0001g0120 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| a0001c0001t0001g0121 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| a0001c0001t0001g0123 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| a0001c0001t0001g0136 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| a0001c0001t0001g0140 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| a0001c0001t0001g0142 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| a0001c0001t0002g0139 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| a0001c0006t0001g0011 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| a0001c0008t0001g0078 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| a0001c0008t0001g0124 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| a0001c0012t0001g0137 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| a0002c0002t0001g0002 | 0/0 | 21 | 4 | 0 | 14 | 0 | 3 | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| a0002c0002t0001g0004 | 0/0 | 11 | 3 | 6 | 0 | 0 | 2 | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| a0002c0002t0001g0008 | 0/0 | 7 | 0 | 0 | 4 | 0 | 3 | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| a0002c0002t0001g0017 | 0/0 | 4 | 1 | 1 | 2 | 0 | 0 | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| a0002c0002t0001g0018 | 0/0 | 4 | 0 | 1 | 3 | 0 | 0 | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| a0002c0002t0001g0019 | 0/0 | 4 | 0 | 1 | 1 | 1 | 1 | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| a0002c0002t0001g0024 | 0/0 | 3 | 0 | 0 | 3 | 0 | 0 | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| a0002c0002t0001g0025 | 0/0 | 3 | 0 | 0 | 3 | 0 | 0 | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| a0002c0002t0001g0026 | 0/0 | 3 | 0 | 0 | 0 | 0 | 3 | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| a0002c0002t0001g0027 | 0/0 | 3 | 1 | 0 | 2 | 0 | 0 | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| a0002c0002t0001g0035 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| a0002c0002t0001g0036 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| a0002c0002t0001g0037 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| a0002c0002t0001g0049 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| a0002c0002t0001g0050 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| a0002c0002t0001g0051 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| a0002c0002t0001g0052 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| a0002c0002t0001g0053 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| a0002c0002t0001g0054 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| a0002c0002t0001g0055 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| a0002c0002t0001g0056 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| a0002c0002t0001g0057 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| a0002c0002t0001g0058 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| a0002c0002t0001g0059 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| a0002c0002t0001g0060 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| a0002c0002t0001g0061 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| a0002c0002t0001g0062 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| a0002c0002t0001g0063 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| a0002c0002t0001g0065 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| a0002c0002t0001g0066 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| a0002c0002t0001g0067 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| a0002c0002t0001g0068 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| a0002c0002t0001g0076 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| a0002c0002t0001g0090 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| a0002c0002t0001g0111 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| a0002c0002t0001g0122 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| a0002c0002t0001g0138 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| a0002c0002t0003g0037 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| a0002c0018t0001g0002 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| a0003c0003t0001g0007 | 0/0 | 9 | 0 | 1 | 8 | 0 | 0 | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| a0003c0003t0001g0016 | 0/0 | 5 | 0 | 3 | 0 | 1 | 1 | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| a0003c0003t0001g0034 | 0/0 | 3 | 0 | 0 | 3 | 0 | 0 | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| a0003c0003t0001g0047 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| a0003c0003t0001g0126 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| a0003c0003t0001g0127 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| a0003c0003t0001g0129 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| a0003c0003t0001g0130 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| a0003c0003t0001g0131 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| a0003c0003t0001g0132 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| a0003c0003t0001g0133 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| a0003c0003t0001g0135 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| a0003c0003t0001g0143 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| a0003c0003t0001g0144 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| a0003c0003t0004g0128 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| a0004c0004t0001g0010 | 0/0 | 7 | 4 | 3 | 0 | 0 | 0 | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| a0004c0004t0001g0084 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| a0004c0004t0001g0085 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| a0004c0004t0001g0086 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| a0004c0004t0001g0104 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| a0004c0004t0001g0108 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| a0004c0004t0001g0109 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| a0005c0005t0001g0020 | 0/0 | 4 | 4 | 0 | 0 | 0 | 0 | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| a0006c0007t0001g0077 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| a0006c0007t0001g0081 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| a0006c0017t0001g0079 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| a0007c0010t0001g0134 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| a0008c0009t0001g0125 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| a0009c0013t0001g0069 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| a0010c0011t0001g0141 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| a0011c0016t0001g0008 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| a0012c0014t0001g0064 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| a0013c0015t0001g0036 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| HG00280 | hp1 | a0002 | c0002 | t0001 | g0019 | EUR | FIN | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG00280 | hp2 | a0002 | c0018 | t0001 | g0002 | EUR | FIN | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG00408 | hp1 | a0002 | c0002 | t0001 | g0051 | EAS | CHS | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG00408 | hp2 | a0001 | c0001 | t0001 | g0003 | EAS | CHS | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG00423 | hp1 | a0002 | c0002 | t0001 | g0002 | EAS | CHS | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG00423 | hp2 | a0001 | c0001 | t0001 | g0012 | EAS | CHS | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG00438 | hp1 | a0001 | c0001 | t0001 | g0100 | EAS | CHS | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG00438 | hp2 | a0001 | c0001 | t0001 | g0006 | EAS | CHS | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG00544 | hp1 | a0003 | c0003 | t0001 | g0034 | EAS | CHS | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG00544 | hp2 | a0001 | c0001 | t0001 | g0121 | EAS | CHS | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG00558 | hp1 | a0002 | c0002 | t0001 | g0019 | EAS | CHS | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG00558 | hp2 | a0002 | c0002 | t0001 | g0025 | EAS | CHS | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG00597 | hp1 | a0001 | c0001 | t0001 | g0101 | EAS | CHS | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG00597 | hp2 | a0002 | c0002 | t0001 | g0002 | EAS | CHS | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG00609 | hp1 | a0003 | c0003 | t0001 | g0007 | EAS | CHS | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG00609 | hp2 | a0002 | c0002 | t0001 | g0018 | EAS | CHS | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG00621 | hp1 | a0003 | c0003 | t0001 | g0007 | EAS | CHS | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG00621 | hp2 | a0001 | c0001 | t0001 | g0097 | EAS | CHS | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG00639 | hp1 | a0002 | c0002 | t0001 | g0035 | AMR | PUR | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG00639 | hp2 | a0003 | c0003 | t0001 | g0016 | AMR | PUR | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG00733 | hp1 | a0002 | c0002 | t0001 | g0004 | AMR | PUR | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG00733 | hp2 | a0001 | c0001 | t0001 | g0013 | AMR | PUR | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG00735 | hp1 | a0001 | c0001 | t0001 | g0033 | AMR | PUR | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG00735 | hp2 | a0001 | c0001 | t0001 | g0015 | AMR | PUR | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG00738 | hp1 | a0002 | c0002 | t0001 | g0017 | AMR | PUR | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG00738 | hp2 | a0002 | c0002 | t0001 | g0004 | AMR | PUR | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG00741 | hp1 | a0003 | c0003 | t0001 | g0131 | AMR | PUR | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG00741 | hp2 | a0001 | c0001 | t0001 | g0005 | AMR | PUR | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG01074 | hp1 | a0002 | c0002 | t0001 | g0018 | AMR | PUR | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG01074 | hp2 | a0003 | c0003 | t0001 | g0129 | AMR | PUR | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG01099 | hp1 | a0003 | c0003 | t0004 | g0128 | AMR | PUR | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG01099 | hp2 | a0002 | c0002 | t0001 | g0004 | AMR | PUR | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG01106 | hp1 | a0002 | c0002 | t0001 | g0019 | AMR | PUR | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG01106 | hp2 | a0003 | c0003 | t0001 | g0016 | AMR | PUR | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG01109 | hp1 | a0001 | c0001 | t0001 | g0015 | AMR | PUR | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG01109 | hp2 | a0001 | c0001 | t0001 | g0042 | AMR | PUR | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG01167 | hp1 | a0001 | c0001 | t0001 | g0006 | AMR | PUR | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG01167 | hp2 | a0004 | c0004 | t0001 | g0010 | AMR | PUR | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG01168 | hp1 | a0001 | c0001 | t0001 | g0071 | AMR | PUR | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG01168 | hp2 | a0001 | c0001 | t0001 | g0001 | AMR | PUR | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG01175 | hp1 | a0003 | c0003 | t0001 | g0133 | AMR | PUR | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG01175 | hp2 | a0002 | c0002 | t0003 | g0037 | AMR | PUR | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG01192 | hp1 | a0001 | c0001 | t0001 | g0033 | AMR | PUR | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG01192 | hp2 | a0001 | c0001 | t0001 | g0023 | AMR | PUR | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG01243 | hp1 | a0001 | c0001 | t0001 | g0001 | AMR | PUR | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG01243 | hp2 | a0001 | c0001 | t0001 | g0009 | AMR | PUR | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG01255 | hp1 | a0001 | c0001 | t0001 | g0003 | AMR | CLM | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG01255 | hp2 | a0001 | c0012 | t0001 | g0137 | AMR | CLM | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG01256 | hp1 | a0001 | c0001 | t0001 | g0083 | AMR | CLM | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG01256 | hp2 | a0001 | c0001 | t0001 | g0001 | AMR | CLM | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG01258 | hp1 | a0003 | c0003 | t0001 | g0132 | AMR | CLM | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG01258 | hp2 | a0001 | c0001 | t0001 | g0001 | AMR | CLM | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG01346 | hp1 | a0001 | c0001 | t0001 | g0013 | AMR | CLM | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG01346 | hp2 | a0001 | c0001 | t0001 | g0045 | AMR | CLM | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG01358 | hp1 | a0003 | c0003 | t0001 | g0016 | AMR | CLM | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG01358 | hp2 | a0002 | c0002 | t0001 | g0004 | AMR | CLM | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG01361 | hp1 | a0001 | c0001 | t0001 | g0001 | AMR | CLM | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG01361 | hp2 | a0001 | c0001 | t0001 | g0005 | AMR | CLM | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG01433 | hp1 | a0001 | c0001 | t0001 | g0013 | AMR | CLM | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG01433 | hp2 | a0001 | c0001 | t0001 | g0001 | AMR | CLM | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG01496 | hp1 | a0002 | c0002 | t0001 | g0004 | AMR | CLM | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG01496 | hp2 | a0001 | c0001 | t0001 | g0003 | AMR | CLM | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG01515 | hp1 | a0001 | c0001 | t0001 | g0045 | EUR | IBS | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG01515 | hp2 | a0001 | c0001 | t0001 | g0013 | EUR | IBS | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG01517 | hp1 | a0001 | c0001 | t0001 | g0136 | EUR | IBS | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG01517 | hp2 | a0003 | c0003 | t0001 | g0127 | EUR | IBS | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG01884 | hp1 | a0006 | c0007 | t0001 | g0077 | AFR | ACB | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG01884 | hp2 | a0001 | c0001 | t0001 | g0009 | AFR | ACB | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG01891 | hp1 | a0001 | c0001 | t0001 | g0029 | AFR | ACB | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG01891 | hp2 | a0001 | c0001 | t0001 | g0038 | AFR | ACB | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG01934 | hp1 | a0001 | c0001 | t0001 | g0006 | AMR | PEL | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG01934 | hp2 | a0001 | c0001 | t0001 | g0005 | AMR | PEL | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG01943 | hp1 | a0001 | c0001 | t0001 | g0001 | AMR | PEL | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG01943 | hp2 | a0001 | c0001 | t0001 | g0005 | AMR | PEL | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG01952 | hp1 | a0001 | c0001 | t0001 | g0006 | AMR | PEL | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG01952 | hp2 | a0001 | c0001 | t0001 | g0028 | AMR | PEL | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG01975 | hp1 | a0002 | c0002 | t0001 | g0062 | AMR | PEL | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG01975 | hp2 | a0002 | c0002 | t0001 | g0004 | AMR | PEL | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG01978 | hp1 | a0001 | c0001 | t0001 | g0120 | AMR | PEL | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG01978 | hp2 | a0001 | c0001 | t0001 | g0032 | AMR | PEL | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG01981 | hp1 | a0001 | c0001 | t0001 | g0005 | AMR | PEL | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG01981 | hp2 | a0004 | c0004 | t0001 | g0010 | AMR | PEL | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG01993 | hp1 | a0001 | c0001 | t0001 | g0096 | AMR | PEL | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG01993 | hp2 | a0001 | c0001 | t0001 | g0005 | AMR | PEL | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG02004 | hp1 | a0001 | c0001 | t0001 | g0005 | AMR | PEL | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG02004 | hp2 | a0003 | c0003 | t0001 | g0135 | AMR | PEL | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG02015 | hp1 | a0001 | c0001 | t0001 | g0044 | EAS | KHV | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG02015 | hp2 | a0001 | c0001 | t0001 | g0012 | EAS | KHV | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG02027 | hp1 | a0001 | c0001 | t0001 | g0003 | EAS | KHV | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG02027 | hp2 | a0002 | c0002 | t0001 | g0025 | EAS | KHV | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG02040 | hp1 | a0002 | c0002 | t0001 | g0050 | EAS | KHV | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG02040 | hp2 | a0001 | c0001 | t0001 | g0044 | EAS | KHV | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG02055 | hp1 | a0001 | c0001 | t0001 | g0009 | AFR | ACB | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG02055 | hp2 | a0002 | c0002 | t0001 | g0036 | AFR | ACB | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG02071 | hp1 | a0001 | c0001 | t0001 | g0116 | EAS | KHV | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG02071 | hp2 | a0002 | c0002 | t0001 | g0002 | EAS | KHV | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG02074 | hp1 | a0001 | c0001 | t0001 | g0030 | EAS | KHV | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG02074 | hp2 | a0002 | c0002 | t0001 | g0002 | EAS | KHV | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG02080 | hp1 | a0001 | c0001 | t0001 | g0021 | EAS | KHV | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG02080 | hp2 | a0002 | c0002 | t0001 | g0049 | EAS | KHV | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG02132 | hp1 | a0001 | c0001 | t0001 | g0014 | EAS | KHV | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG02132 | hp2 | a0001 | c0001 | t0001 | g0003 | EAS | KHV | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG02135 | hp1 | a0001 | c0001 | t0001 | g0003 | EAS | KHV | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG02135 | hp2 | a0001 | c0001 | t0001 | g0102 | EAS | KHV | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG02145 | hp1 | a0002 | c0002 | t0001 | g0004 | AFR | ACB | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG02145 | hp2 | a0001 | c0001 | t0001 | g0039 | AFR | ACB | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG02148 | hp1 | a0001 | c0001 | t0001 | g0006 | AMR | PEL | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG02148 | hp2 | a0001 | c0001 | t0001 | g0028 | AMR | PEL | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG02155 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | CDX | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG02155 | hp2 | a0002 | c0002 | t0001 | g0002 | EAS | CDX | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG02165 | hp1 | a0001 | c0001 | t0001 | g0106 | EAS | CDX | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG02165 | hp2 | a0001 | c0001 | t0001 | g0095 | EAS | CDX | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG02257 | hp1 | a0007 | c0010 | t0001 | g0134 | AFR | ACB | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG02257 | hp2 | a0001 | c0008 | t0001 | g0078 | AFR | ACB | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG02258 | hp1 | a0001 | c0001 | t0001 | g0009 | AFR | ACB | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG02258 | hp2 | a0008 | c0009 | t0001 | g0125 | AFR | ACB | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG02273 | hp1 | a0001 | c0001 | t0001 | g0001 | AMR | PEL | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG02273 | hp2 | a0001 | c0001 | t0001 | g0113 | AMR | PEL | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG02293 | hp1 | a0003 | c0003 | t0001 | g0007 | AMR | PEL | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG02293 | hp2 | a0001 | c0001 | t0001 | g0001 | AMR | PEL | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG02300 | hp1 | a0001 | c0001 | t0001 | g0005 | AMR | PEL | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG02300 | hp2 | a0001 | c0001 | t0001 | g0043 | AMR | PEL | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG02451 | hp1 | a0002 | c0002 | t0001 | g0122 | AFR | ACB | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG02451 | hp2 | a0001 | c0001 | t0001 | g0015 | AFR | ACB | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG02523 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | KHV | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG02523 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | KHV | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG02572 | hp1 | a0001 | c0001 | t0002 | g0139 | AFR | GWD | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG02572 | hp2 | a0004 | c0004 | t0001 | g0084 | AFR | GWD | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG02602 | hp1 | a0001 | c0001 | t0001 | g0001 | SAS | PJL | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG02602 | hp2 | a0002 | c0002 | t0001 | g0067 | SAS | PJL | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG02615 | hp1 | a0002 | c0002 | t0001 | g0002 | AFR | GWD | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG02615 | hp2 | a0001 | c0001 | t0001 | g0040 | AFR | GWD | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG02622 | hp1 | a0001 | c0001 | t0001 | g0015 | AFR | GWD | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG02622 | hp2 | a0004 | c0004 | t0001 | g0010 | AFR | GWD | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG02630 | hp1 | a0001 | c0001 | t0001 | g0031 | AFR | GWD | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG02630 | hp2 | a0001 | c0001 | t0001 | g0072 | AFR | GWD | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG02647 | hp1 | a0001 | c0001 | t0001 | g0011 | AFR | GWD | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG02647 | hp2 | a0004 | c0004 | t0001 | g0108 | AFR | GWD | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG02683 | hp1 | a0002 | c0002 | t0001 | g0026 | SAS | PJL | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG02683 | hp2 | a0002 | c0002 | t0001 | g0019 | SAS | PJL | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG02698 | hp1 | a0001 | c0001 | t0001 | g0022 | SAS | PJL | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG02698 | hp2 | a0001 | c0001 | t0001 | g0013 | SAS | PJL | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG02717 | hp1 | a0002 | c0002 | t0001 | g0002 | AFR | GWD | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG02717 | hp2 | a0001 | c0001 | t0001 | g0011 | AFR | GWD | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG02723 | hp1 | a0002 | c0002 | t0001 | g0004 | AFR | GWD | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG02723 | hp2 | a0005 | c0005 | t0001 | g0020 | AFR | GWD | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG02735 | hp1 | a0002 | c0002 | t0001 | g0002 | SAS | PJL | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG02735 | hp2 | a0001 | c0001 | t0001 | g0003 | SAS | PJL | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG02738 | hp1 | a0002 | c0002 | t0001 | g0008 | SAS | PJL | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG02738 | hp2 | a0003 | c0003 | t0001 | g0016 | SAS | PJL | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG02809 | hp1 | a0001 | c0008 | t0001 | g0124 | AFR | GWD | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG02809 | hp2 | a0001 | c0001 | t0001 | g0082 | AFR | GWD | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG02818 | hp1 | a0001 | c0001 | t0001 | g0015 | AFR | GWD | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG02818 | hp2 | a0006 | c0017 | t0001 | g0079 | AFR | GWD | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG02886 | hp1 | a0004 | c0004 | t0001 | g0010 | AFR | GWD | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG02886 | hp2 | a0005 | c0005 | t0001 | g0020 | AFR | GWD | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG02895 | hp1 | a0002 | c0002 | t0001 | g0002 | AFR | GWD | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG02895 | hp2 | a0001 | c0001 | t0001 | g0031 | AFR | GWD | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG02897 | hp1 | a0001 | c0001 | t0001 | g0031 | AFR | GWD | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG02897 | hp2 | a0005 | c0005 | t0001 | g0020 | AFR | GWD | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG02922 | hp1 | a0001 | c0001 | t0001 | g0087 | AFR | ESN | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG02922 | hp2 | a0001 | c0001 | t0001 | g0014 | AFR | ESN | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG02965 | hp1 | a0001 | c0006 | t0001 | g0011 | AFR | ESN | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG02965 | hp2 | a0004 | c0004 | t0001 | g0010 | AFR | ESN | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG02970 | hp1 | a0001 | c0001 | t0001 | g0123 | AFR | ESN | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG02970 | hp2 | a0002 | c0002 | t0001 | g0055 | AFR | ESN | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG02976 | hp1 | a0002 | c0002 | t0001 | g0076 | AFR | ESN | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG02976 | hp2 | a0002 | c0002 | t0001 | g0058 | AFR | ESN | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG03017 | hp1 | a0001 | c0001 | t0001 | g0099 | SAS | PJL | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG03017 | hp2 | a0001 | c0001 | t0001 | g0103 | SAS | PJL | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG03041 | hp1 | a0001 | c0001 | t0001 | g0001 | AFR | GWD | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG03041 | hp2 | a0001 | c0001 | t0001 | g0023 | AFR | GWD | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG03098 | hp1 | a0001 | c0001 | t0001 | g0092 | AFR | MSL | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG03098 | hp2 | a0002 | c0002 | t0001 | g0004 | AFR | MSL | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG03130 | hp1 | a0001 | c0001 | t0001 | g0009 | AFR | ESN | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG03130 | hp2 | a0001 | c0001 | t0001 | g0029 | AFR | ESN | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG03139 | hp1 | a0001 | c0001 | t0001 | g0011 | AFR | ESN | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG03139 | hp2 | a0004 | c0004 | t0001 | g0010 | AFR | ESN | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG03195 | hp1 | a0006 | c0007 | t0001 | g0081 | AFR | ESN | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG03195 | hp2 | a0005 | c0005 | t0001 | g0020 | AFR | ESN | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG03209 | hp1 | a0001 | c0001 | t0001 | g0001 | AFR | MSL | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG03209 | hp2 | a0001 | c0001 | t0001 | g0112 | AFR | MSL | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG03225 | hp1 | a0004 | c0004 | t0001 | g0085 | AFR | MSL | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG03225 | hp2 | a0004 | c0004 | t0001 | g0086 | AFR | MSL | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG03239 | hp1 | a0002 | c0002 | t0001 | g0068 | SAS | PJL | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG03239 | hp2 | a0001 | c0001 | t0001 | g0005 | SAS | PJL | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG03453 | hp1 | a0001 | c0006 | t0001 | g0011 | AFR | MSL | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG03453 | hp2 | a0001 | c0001 | t0001 | g0040 | AFR | MSL | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG03491 | hp1 | a0001 | c0001 | t0001 | g0046 | SAS | PJL | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG03491 | hp2 | a0002 | c0002 | t0001 | g0004 | SAS | PJL | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG03492 | hp1 | a0002 | c0002 | t0001 | g0037 | SAS | PJL | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG03492 | hp2 | a0001 | c0001 | t0001 | g0046 | SAS | PJL | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG03516 | hp1 | a0001 | c0001 | t0001 | g0140 | AFR | ESN | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG03516 | hp2 | a0001 | c0001 | t0001 | g0070 | AFR | ESN | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG03540 | hp1 | a0002 | c0002 | t0001 | g0002 | AFR | GWD | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG03540 | hp2 | a0001 | c0001 | t0001 | g0009 | AFR | GWD | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG03579 | hp1 | a0001 | c0001 | t0001 | g0023 | AFR | MSL | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG03579 | hp2 | a0003 | c0003 | t0001 | g0126 | AFR | MSL | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG03654 | hp1 | a0001 | c0001 | t0001 | g0003 | SAS | PJL | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG03654 | hp2 | a0002 | c0002 | t0001 | g0057 | SAS | PJL | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG03669 | hp1 | a0002 | c0002 | t0001 | g0002 | SAS | PJL | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG03669 | hp2 | a0001 | c0001 | t0001 | g0001 | SAS | PJL | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG03688 | hp1 | a0002 | c0002 | t0001 | g0060 | SAS | STU | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG03688 | hp2 | a0002 | c0002 | t0001 | g0026 | SAS | STU | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG03831 | hp1 | a0001 | c0001 | t0001 | g0119 | SAS | BEB | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG03831 | hp2 | a0001 | c0001 | t0001 | g0001 | SAS | BEB | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG03927 | hp1 | a0002 | c0002 | t0001 | g0008 | SAS | BEB | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG03927 | hp2 | a0002 | c0002 | t0001 | g0066 | SAS | BEB | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG03942 | hp1 | a0002 | c0002 | t0001 | g0090 | SAS | BEB | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG03942 | hp2 | a0001 | c0001 | t0001 | g0001 | SAS | BEB | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG04115 | hp1 | a0001 | c0001 | t0001 | g0118 | SAS | STU | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG04115 | hp2 | a0002 | c0002 | t0001 | g0111 | SAS | STU | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG04184 | hp1 | a0001 | c0001 | t0001 | g0022 | SAS | BEB | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG04184 | hp2 | a0002 | c0002 | t0001 | g0008 | SAS | BEB | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG04204 | hp1 | a0003 | c0003 | t0001 | g0130 | SAS | STU | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG04204 | hp2 | a0002 | c0002 | t0001 | g0004 | SAS | STU | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG04228 | hp1 | a0002 | c0002 | t0001 | g0065 | SAS | STU | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG04228 | hp2 | a0002 | c0002 | t0001 | g0026 | SAS | STU | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| NA18522 | hp1 | a0001 | c0001 | t0001 | g0093 | AFR | YRI | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| NA18522 | hp2 | a0001 | c0001 | t0001 | g0011 | AFR | YRI | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| NA18612 | hp1 | a0001 | c0001 | t0001 | g0014 | EAS | CHB | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| NA18612 | hp2 | a0002 | c0002 | t0001 | g0017 | EAS | CHB | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| NA18747 | hp1 | a0001 | c0001 | t0001 | g0006 | EAS | CHB | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| NA18747 | hp2 | a0002 | c0002 | t0001 | g0017 | EAS | CHB | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| NA18906 | hp1 | a0001 | c0001 | t0001 | g0023 | AFR | YRI | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| NA18906 | hp2 | a0001 | c0001 | t0001 | g0039 | AFR | YRI | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| NA18943 | hp1 | a0001 | c0001 | t0001 | g0075 | EAS | JPT | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| NA18943 | hp2 | a0001 | c0001 | t0001 | g0012 | EAS | JPT | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| NA18944 | hp1 | a0002 | c0002 | t0001 | g0025 | EAS | JPT | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| NA18944 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| NA18945 | hp1 | a0001 | c0001 | t0001 | g0043 | EAS | JPT | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| NA18945 | hp2 | a0001 | c0001 | t0001 | g0003 | EAS | JPT | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| NA18947 | hp1 | a0001 | c0001 | t0001 | g0021 | EAS | JPT | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| NA18947 | hp2 | a0002 | c0002 | t0001 | g0056 | EAS | JPT | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| NA18948 | hp1 | a0004 | c0004 | t0001 | g0109 | EAS | JPT | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| NA18948 | hp2 | a0002 | c0002 | t0001 | g0024 | EAS | JPT | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| NA18952 | hp1 | a0001 | c0001 | t0001 | g0030 | EAS | JPT | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| NA18952 | hp2 | a0002 | c0002 | t0001 | g0008 | EAS | JPT | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| NA18962 | hp1 | a0002 | c0002 | t0001 | g0059 | EAS | JPT | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| NA18962 | hp2 | a0001 | c0001 | t0001 | g0033 | EAS | JPT | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| NA18963 | hp1 | a0001 | c0001 | t0001 | g0012 | EAS | JPT | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| NA18963 | hp2 | a0003 | c0003 | t0001 | g0007 | EAS | JPT | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| NA18964 | hp1 | a0001 | c0001 | t0001 | g0032 | EAS | JPT | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| NA18964 | hp2 | a0001 | c0001 | t0001 | g0105 | EAS | JPT | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| NA18967 | hp1 | a0003 | c0003 | t0001 | g0034 | EAS | JPT | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| NA18967 | hp2 | a0001 | c0001 | t0001 | g0006 | EAS | JPT | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| NA18969 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| NA18969 | hp2 | a0002 | c0002 | t0001 | g0018 | EAS | JPT | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| NA18970 | hp1 | a0001 | c0001 | t0001 | g0006 | EAS | JPT | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| NA18970 | hp2 | a0002 | c0002 | t0001 | g0061 | EAS | JPT | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| NA18971 | hp1 | a0001 | c0001 | t0001 | g0098 | EAS | JPT | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| NA18971 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| NA18973 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| NA18973 | hp2 | a0011 | c0016 | t0001 | g0008 | EAS | JPT | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| NA18975 | hp1 | a0003 | c0003 | t0001 | g0007 | EAS | JPT | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| NA18975 | hp2 | a0002 | c0002 | t0001 | g0063 | EAS | JPT | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| NA18979 | hp1 | a0003 | c0003 | t0001 | g0007 | EAS | JPT | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| NA18979 | hp2 | a0001 | c0001 | t0001 | g0021 | EAS | JPT | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| NA18980 | hp1 | a0002 | c0002 | t0001 | g0002 | EAS | JPT | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| NA18980 | hp2 | a0001 | c0001 | t0001 | g0003 | EAS | JPT | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| NA18981 | hp1 | a0002 | c0002 | t0001 | g0002 | EAS | JPT | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| NA18981 | hp2 | a0012 | c0014 | t0001 | g0064 | EAS | JPT | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| NA18982 | hp1 | a0002 | c0002 | t0001 | g0024 | EAS | JPT | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| NA18982 | hp2 | a0003 | c0003 | t0001 | g0034 | EAS | JPT | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| NA18983 | hp1 | a0002 | c0002 | t0001 | g0002 | EAS | JPT | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| NA18983 | hp2 | a0002 | c0002 | t0001 | g0024 | EAS | JPT | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| NA18985 | hp1 | a0002 | c0002 | t0001 | g0002 | EAS | JPT | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| NA18985 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| NA18989 | hp1 | a0002 | c0002 | t0001 | g0002 | EAS | JPT | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| NA18989 | hp2 | a0001 | c0001 | t0001 | g0021 | EAS | JPT | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| NA18990 | hp1 | a0001 | c0001 | t0001 | g0003 | EAS | JPT | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| NA18990 | hp2 | a0002 | c0002 | t0001 | g0008 | EAS | JPT | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| NA18995 | hp1 | a0002 | c0002 | t0001 | g0027 | EAS | JPT | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| NA18995 | hp2 | a0002 | c0002 | t0001 | g0018 | EAS | JPT | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| NA18997 | hp1 | a0003 | c0003 | t0001 | g0143 | EAS | JPT | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| NA18997 | hp2 | a0001 | c0001 | t0001 | g0022 | EAS | JPT | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| NA18998 | hp1 | a0001 | c0001 | t0001 | g0074 | EAS | JPT | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| NA18998 | hp2 | a0002 | c0002 | t0001 | g0002 | EAS | JPT | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| NA18999 | hp1 | a0001 | c0001 | t0001 | g0028 | EAS | JPT | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| NA18999 | hp2 | a0002 | c0002 | t0001 | g0002 | EAS | JPT | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| NA19000 | hp1 | a0002 | c0002 | t0001 | g0054 | EAS | JPT | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| NA19000 | hp2 | a0001 | c0001 | t0001 | g0088 | EAS | JPT | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| NA19002 | hp1 | a0003 | c0003 | t0001 | g0047 | EAS | JPT | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| NA19002 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| NA19005 | hp1 | a0001 | c0001 | t0001 | g0003 | EAS | JPT | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| NA19005 | hp2 | a0002 | c0002 | t0001 | g0002 | EAS | JPT | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| NA19009 | hp1 | a0002 | c0002 | t0001 | g0008 | EAS | JPT | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| NA19009 | hp2 | a0001 | c0001 | t0001 | g0014 | EAS | JPT | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| NA19010 | hp1 | a0002 | c0002 | t0001 | g0027 | EAS | JPT | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| NA19010 | hp2 | a0001 | c0001 | t0001 | g0114 | EAS | JPT | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| NA19011 | hp1 | a0003 | c0003 | t0001 | g0007 | EAS | JPT | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| NA19011 | hp2 | a0001 | c0001 | t0001 | g0110 | EAS | JPT | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| NA19030 | hp1 | a0001 | c0001 | t0001 | g0029 | AFR | LWK | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| NA19030 | hp2 | a0001 | c0001 | t0001 | g0001 | AFR | LWK | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| NA19043 | hp1 | a0001 | c0001 | t0001 | g0001 | AFR | LWK | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| NA19043 | hp2 | a0002 | c0002 | t0001 | g0138 | AFR | LWK | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| NA19057 | hp1 | a0001 | c0001 | t0001 | g0014 | EAS | JPT | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| NA19057 | hp2 | a0003 | c0003 | t0001 | g0007 | EAS | JPT | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| NA19066 | hp1 | a0002 | c0002 | t0001 | g0052 | EAS | JPT | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| NA19066 | hp2 | a0001 | c0001 | t0001 | g0030 | EAS | JPT | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| NA19067 | hp1 | a0001 | c0001 | t0001 | g0022 | EAS | JPT | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| NA19067 | hp2 | a0001 | c0001 | t0001 | g0115 | EAS | JPT | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| NA19070 | hp1 | a0002 | c0002 | t0001 | g0002 | EAS | JPT | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| NA19070 | hp2 | a0001 | c0001 | t0001 | g0012 | EAS | JPT | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| NA19074 | hp1 | a0001 | c0001 | t0001 | g0117 | EAS | JPT | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| NA19074 | hp2 | a0003 | c0003 | t0001 | g0007 | EAS | JPT | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| NA19079 | hp1 | a0001 | c0001 | t0001 | g0041 | EAS | JPT | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| NA19079 | hp2 | a0001 | c0001 | t0001 | g0041 | EAS | JPT | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| NA19082 | hp1 | a0004 | c0004 | t0001 | g0104 | EAS | JPT | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| NA19082 | hp2 | a0003 | c0003 | t0001 | g0047 | EAS | JPT | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| NA19088 | hp1 | a0001 | c0001 | t0001 | g0032 | EAS | JPT | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| NA19088 | hp2 | a0001 | c0001 | t0001 | g0091 | EAS | JPT | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| NA19090 | hp1 | a0002 | c0002 | t0001 | g0008 | EAS | JPT | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| NA19090 | hp2 | a0001 | c0001 | t0001 | g0012 | EAS | JPT | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| NA19240 | hp1 | a0002 | c0002 | t0001 | g0053 | AFR | YRI | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| NA19240 | hp2 | a0013 | c0015 | t0001 | g0036 | AFR | YRI | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| NA20129 | hp1 | a0001 | c0001 | t0001 | g0001 | AFR | ASW | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| NA20129 | hp2 | a0002 | c0002 | t0001 | g0027 | AFR | ASW | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| NA20805 | hp1 | a0003 | c0003 | t0001 | g0016 | EUR | TSI | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| NA20805 | hp2 | a0001 | c0001 | t0001 | g0001 | EUR | TSI | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| NA20905 | hp1 | a0001 | c0001 | t0001 | g0048 | SAS | GIH | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| NA20905 | hp2 | a0002 | c0002 | t0001 | g0002 | SAS | GIH | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG01123 | hp1 | a0003 | c0003 | t0001 | g0144 | AMR | CLM | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG01123 | hp2 | a0004 | c0004 | t0001 | g0010 | AMR | CLM | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG02109 | hp1 | a0001 | c0001 | t0001 | g0038 | AFR | ACB | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG02109 | hp2 | a0001 | c0001 | t0001 | g0073 | AFR | ACB | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG02486 | hp1 | a0001 | c0001 | t0001 | g0009 | AFR | ACB | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG02486 | hp2 | a0009 | c0013 | t0001 | g0069 | AFR | ACB | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG02559 | hp1 | a0001 | c0001 | t0001 | g0001 | AFR | ACB | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG02559 | hp2 | a0001 | c0001 | t0001 | g0042 | AFR | ACB | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG03471 | hp1 | a0002 | c0002 | t0001 | g0017 | AFR | MSL | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG03471 | hp2 | a0001 | c0001 | t0001 | g0011 | AFR | MSL | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG06807 | hp1 | a0001 | c0001 | t0001 | g0142 | AFR | USA | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| HG06807 | hp2 | a0010 | c0011 | t0001 | g0141 | AFR | USA | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| NA20300 | hp1 | a0001 | c0001 | t0001 | g0089 | AFR | USA | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| NA20300 | hp2 | a0001 | c0001 | t0001 | g0006 | AFR | USA | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| NA21309 | hp1 | a0001 | c0001 | t0001 | g0080 | AFR | LWK | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| NA21309 | hp2 | a0001 | c0001 | t0001 | g0094 | AFR | LWK | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| homoSapiens | chm13v2 | a0001 | c0001 | t0001 | g0107 | REF | REF | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| homoSapiens | grch38p0 | a0001 | c0001 | t0001 | g0035 | REF | REF | EPS8L1_chr19_55070869_55092923 | EPS8L1 | chr19 | 55070869 | 55092923 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr19:55076454 | G | A | 3 | a0003 a0007 a0008 |
32 | HG00544.hp1 HG00609.hp1 HG00621.hp1 others(29): Show |
missense_variant | MODERATE | c.10G>A | p.Ala4Thr | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 2/20 | 98/2569 | 10/2172 | 4/723 | chr19 | 55076454 | |||
| chr19:55080166 | G | A | 1 | a0010 | 1 | HG06807.hp2 | missense_variant | MODERATE | c.317G>A | p.Arg106His | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 6/20 | 405/2569 | 317/2172 | 106/723 | chr19 | 55080166 | |||
| chr19:55081341 | G | A | 2 | a0005 a0009 |
5 | HG02486.hp2 HG02723.hp2 HG02886.hp2 others(2): Show |
missense_variant | MODERATE | c.623G>A | p.Gly208Asp | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 8/20 | 711/2569 | 623/2172 | 208/723 | chr19 | 55081341 | |||
| chr19:55082312 | C | T | 1 | a0007 | 1 | HG02257.hp1 | missense_variant | MODERATE | c.1028C>T | p.Pro343Leu | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 11/20 | 1116/2569 | 1028/2172 | 343/723 | chr19 | 55082312 | |||
| chr19:55082553 | C | A | 1 | a0012 | 1 | NA18981.hp2 | missense_variant | MODERATE | c.1165C>A | p.Arg389Ser | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 12/20 | 1253/2569 | 1165/2172 | 389/723 | chr19 | 55082553 | |||
| chr19:55083628 | C | G | 3 | a0003 a0004 a0007 |
44 | HG00544.hp1 HG00609.hp1 HG00621.hp1 others(41): Show |
missense_variant | MODERATE | c.1369C>G | p.Gln457Glu | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 14/20 | 1457/2569 | 1369/2172 | 457/723 | chr19 | 55083628 | |||
| chr19:55086495 | A | C | 1 | a0009 | 1 | HG02486.hp2 | missense_variant | MODERATE | c.1754A>C | p.Asn585Thr | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 17/20 | 1842/2569 | 1754/2172 | 585/723 | chr19 | 55086495 | |||
| chr19:55086792 | C | G | 1 | a0011 | 1 | NA18973.hp2 | missense_variant | MODERATE | c.1856C>G | p.Ala619Gly | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 18/20 | 1944/2569 | 1856/2172 | 619/723 | chr19 | 55086792 | |||
| chr19:55087356 | A | G | 8 | a0002 a0003 a0004 others(5): Show |
143 | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(140): Show |
missense_variant | MODERATE | c.2006A>G | p.Lys669Arg | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 19/20 | 2094/2569 | 2006/2172 | 669/723 | chr19 | 55087356 | |||
| chr19:55087376 | A | C | 1 | a0009 | 1 | HG02486.hp2 | missense_variant | MODERATE | c.2026A>C | p.Ser676Arg | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 19/20 | 2114/2569 | 2026/2172 | 676/723 | chr19 | 55087376 | |||
| chr19:55087550 | T | C | 1 | a0013 | 1 | NA19240.hp2 | missense_variant | MODERATE | c.2108T>C | p.Leu703Pro | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 20/20 | 2196/2569 | 2108/2172 | 703/723 | chr19 | 55087550 | |||
| chr19:55087559 | T | C | 1 | a0006 | 3 | HG01884.hp1 HG02818.hp2 HG03195.hp1 |
missense_variant | MODERATE | c.2117T>C | p.Val706Ala | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 20/20 | 2205/2569 | 2117/2172 | 706/723 | chr19 | 55087559 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr19:55080822 | G | A | 1 | a0001c0006 | 2 | HG02965.hp1 HG03453.hp1 |
synonymous_variant | LOW | c.480G>A | p.Ser160Ser | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 7/20 | 568/2569 | 480/2172 | 160/723 | chr19 | 55080822 | |||
| chr19:55081252 | G | A | 1 | a0001c0012 | 1 | HG01255.hp2 | synonymous_variant | LOW | c.534G>A | p.Gln178Gln | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 8/20 | 622/2569 | 534/2172 | 178/723 | chr19 | 55081252 | |||
| chr19:55081435 | C | T | 1 | a0002c0018 | 1 | HG00280.hp2 | synonymous_variant | LOW | c.717C>T | p.Ser239Ser | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 8/20 | 805/2569 | 717/2172 | 239/723 | chr19 | 55081435 | |||
| chr19:55082295 | C | T | 2 | a0001c0008 a0006c0017 |
3 | HG02257.hp2 HG02809.hp1 HG02818.hp2 |
synonymous_variant | LOW | c.1011C>T | p.Ile337Ile | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 11/20 | 1099/2569 | 1011/2172 | 337/723 | chr19 | 55082295 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr19:55087624 | C | A | 1 | a0001c0001t0002 | 1 | HG02572.hp1 | 3_prime_UTR_variant | MODIFIER | c.*10C>A | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 20/20 | 10 | chr19 | 55087624 | ||||||
| chr19:55087643 | C | T | 1 | a0001c0001t0002 | 1 | HG02572.hp1 | 3_prime_UTR_variant | MODIFIER | c.*29C>T | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 20/20 | 29 | chr19 | 55087643 | ||||||
| chr19:55087675 | T | C | 1 | a0002c0002t0003 | 1 | HG01175.hp2 | 3_prime_UTR_variant | MODIFIER | c.*61T>C | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 20/20 | 61 | chr19 | 55087675 | ||||||
| chr19:55087914 | G | A | 1 | a0003c0003t0004 | 1 | HG01099.hp1 | 3_prime_UTR_variant | MODIFIER | c.*300G>A | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 20/20 | 300 | chr19 | 55087914 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr19:55075952 | C | T | 27 | a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0136 others(24): Show |
44 | HG00544.hp1 HG00609.hp1 HG00621.hp1 others(41): Show |
intron_variant | MODIFIER | c.-38+33C>T | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 1/19 | chr19 | 55075952 | |||||||
| chr19:55075997 | G | A | 1 | a0001c0001t0001g0048 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.-38+78G>A | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 1/19 | chr19 | 55075997 | |||||||
| chr19:55076002 | C | T | 1 | a0003c0003t0001g0047 | 2 | NA19002.hp1 NA19082.hp2 |
intron_variant | MODIFIER | c.-38+83C>T | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 1/19 | chr19 | 55076002 | |||||||
| chr19:55076003 | A | T | 1 | a0001c0001t0001g0048 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.-38+84A>T | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 1/19 | chr19 | 55076003 | |||||||
| chr19:55076010 | C | G | 1 | a0001c0001t0001g0048 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.-38+91C>G | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 1/19 | chr19 | 55076010 | |||||||
| chr19:55076019 | C | G | 27 | a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0048 others(24): Show |
44 | HG00544.hp1 HG00609.hp1 HG00621.hp1 others(41): Show |
intron_variant | MODIFIER | c.-38+100C>G | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 1/19 | chr19 | 55076019 | |||||||
| chr19:55076022 | G | C | 1 | a0001c0001t0001g0048 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.-38+103G>C | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 1/19 | chr19 | 55076022 | |||||||
| chr19:55076029 | G | T | 1 | a0001c0001t0001g0048 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.-38+110G>T | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 1/19 | chr19 | 55076029 | |||||||
| chr19:55076030 | T | C | 1 | a0001c0001t0001g0048 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.-38+111T>C | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 1/19 | chr19 | 55076030 | |||||||
| chr19:55076034 | A | G | 1 | a0001c0001t0001g0048 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.-38+115A>G | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 1/19 | chr19 | 55076034 | |||||||
| chr19:55076040 | C | T | 143 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 others(140): Show |
330 | HG00280.hp1 HG00280.hp2 HG00408.hp2 others(327): Show |
intron_variant | MODIFIER | c.-38+121C>T | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 1/19 | chr19 | 55076040 | |||||||
| chr19:55076041 | G | A | 1 | a0001c0001t0001g0048 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.-38+122G>A | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 1/19 | chr19 | 55076041 | |||||||
| chr19:55076059 | C | G | 15 | a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0048 others(12): Show |
28 | HG00544.hp1 HG00609.hp1 HG00621.hp1 others(25): Show |
intron_variant | MODIFIER | c.-38+140C>G | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 1/19 | chr19 | 55076059 | |||||||
| chr19:55076060 | C | CTGAGGGC others(64): Show |
1 | a0001c0001t0001g0048 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.-38+143_-38+144ins others(71): Show |
EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr19 | 55076060 | ||||||
| chr19:55076063 | G | A | 9 | a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0136 others(6): Show |
11 | HG01255.hp2 HG01346.hp2 HG01515.hp1 others(8): Show |
intron_variant | MODIFIER | c.-38+144G>A | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 1/19 | chr19 | 55076063 | |||||||
| chr19:55076066 | T | G | 15 | a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0048 others(12): Show |
28 | HG00544.hp1 HG00609.hp1 HG00621.hp1 others(25): Show |
intron_variant | MODIFIER | c.-38+147T>G | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 1/19 | chr19 | 55076066 | |||||||
| chr19:55076067 | C | T | 5 | a0003c0003t0001g0007 a0003c0003t0001g0034 a0003c0003t0001g0047 others(2): Show |
16 | HG00544.hp1 HG00609.hp1 HG00621.hp1 others(13): Show |
intron_variant | MODIFIER | c.-38+148C>T | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 1/19 | chr19 | 55076067 | |||||||
| chr19:55076071 | G | A | 5 | a0003c0003t0001g0007 a0003c0003t0001g0034 a0003c0003t0001g0047 others(2): Show |
16 | HG00544.hp1 HG00609.hp1 HG00621.hp1 others(13): Show |
intron_variant | MODIFIER | c.-38+152G>A | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 1/19 | chr19 | 55076071 | |||||||
| chr19:55076073 | C | T | 9 | a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0136 others(6): Show |
11 | HG01255.hp2 HG01346.hp2 HG01515.hp1 others(8): Show |
intron_variant | MODIFIER | c.-38+154C>T | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 1/19 | chr19 | 55076073 | |||||||
| chr19:55076078 | A | G | 15 | a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0048 others(12): Show |
28 | HG00544.hp1 HG00609.hp1 HG00621.hp1 others(25): Show |
intron_variant | MODIFIER | c.-38+159A>G | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 1/19 | chr19 | 55076078 | |||||||
| chr19:55076086 | GGGA | G | 9 | a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0136 others(6): Show |
11 | HG01255.hp2 HG01346.hp2 HG01515.hp1 others(8): Show |
intron_variant | MODIFIER | c.-38+173_-38+175del others(3): Show |
EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr19 | 55076086 | ||||||
| chr19:55076096 | G | A | 9 | a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0136 others(6): Show |
11 | HG01255.hp2 HG01346.hp2 HG01515.hp1 others(8): Show |
intron_variant | MODIFIER | c.-38+177G>A | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 1/19 | chr19 | 55076096 | |||||||
| chr19:55076100 | A | AGGGCCTG others(64): Show |
3 | a0001c0001t0001g0015 a0001c0001t0001g0023 a0001c0001t0001g0123 |
10 | HG00735.hp2 HG01109.hp1 HG01192.hp2 others(7): Show |
intron_variant | MODIFIER | c.-38+190_-38+191ins others(71): Show |
EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr19 | 55076100 | ||||||
| chr19:55076100 | A | G | 22 | a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0048 others(19): Show |
28 | HG00639.hp2 HG00741.hp1 HG01074.hp2 others(25): Show |
intron_variant | MODIFIER | c.-38+181A>G | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 1/19 | chr19 | 55076100 | |||||||
| chr19:55076103 | G | GCCTGGAT others(100): Show |
77 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 others(74): Show |
185 | HG00408.hp2 HG00423.hp2 HG00438.hp1 others(182): Show |
intron_variant | MODIFIER | c.-38+190_-38+191ins others(107): Show |
EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr19 | 55076103 | ||||||
| chr19:55076103 | G | GCCTGGAT others(172): Show |
2 | a0005c0005t0001g0020 a0009c0013t0001g0069 |
5 | HG02486.hp2 HG02723.hp2 HG02886.hp2 others(2): Show |
intron_variant | MODIFIER | c.-38+190_-38+191ins others(179): Show |
EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr19 | 55076103 | ||||||
| chr19:55076103 | G | T | 1 | a0001c0001t0001g0048 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.-38+184G>T | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 1/19 | chr19 | 55076103 | |||||||
| chr19:55076104 | C | T | 12 | a0003c0003t0001g0016 a0003c0003t0001g0126 a0003c0003t0001g0127 others(9): Show |
16 | HG00639.hp2 HG00741.hp1 HG01074.hp2 others(13): Show |
intron_variant | MODIFIER | c.-38+185C>T | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 1/19 | chr19 | 55076104 | |||||||
| chr19:55076108 | G | A | 12 | a0003c0003t0001g0016 a0003c0003t0001g0126 a0003c0003t0001g0127 others(9): Show |
16 | HG00639.hp2 HG00741.hp1 HG01074.hp2 others(13): Show |
intron_variant | MODIFIER | c.-38+189G>A | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 1/19 | chr19 | 55076108 | |||||||
| chr19:55076109 | A | T | 9 | a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0136 others(6): Show |
11 | HG01255.hp2 HG01346.hp2 HG01515.hp1 others(8): Show |
intron_variant | MODIFIER | c.-38+190A>T | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 1/19 | chr19 | 55076109 | |||||||
| chr19:55076110 | C | T | 6 | a0001c0008t0001g0124 a0003c0003t0001g0007 a0003c0003t0001g0034 others(3): Show |
17 | HG00544.hp1 HG00609.hp1 HG00621.hp1 others(14): Show |
intron_variant | MODIFIER | c.-38+191C>T | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 1/19 | chr19 | 55076110 | |||||||
| chr19:55076116 | G | A | 9 | a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0136 others(6): Show |
11 | HG01255.hp2 HG01346.hp2 HG01515.hp1 others(8): Show |
intron_variant | MODIFIER | c.-38+197G>A | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 1/19 | chr19 | 55076116 | |||||||
| chr19:55076121 | G | A | 9 | a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0136 others(6): Show |
11 | HG01255.hp2 HG01346.hp2 HG01515.hp1 others(8): Show |
intron_variant | MODIFIER | c.-38+202G>A | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 1/19 | chr19 | 55076121 | |||||||
| chr19:55076125 | G | GA | 9 | a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0136 others(6): Show |
11 | HG01255.hp2 HG01346.hp2 HG01515.hp1 others(8): Show |
intron_variant | MODIFIER | c.-38+207dupA | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr19 | 55076125 | ||||||
| chr19:55076128 | G | A | 9 | a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0136 others(6): Show |
11 | HG01255.hp2 HG01346.hp2 HG01515.hp1 others(8): Show |
intron_variant | MODIFIER | c.-38+209G>A | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 1/19 | chr19 | 55076128 | |||||||
| chr19:55076128 | G | GGACTGGG others(28): Show |
6 | a0001c0008t0001g0124 a0003c0003t0001g0007 a0003c0003t0001g0034 others(3): Show |
17 | HG00544.hp1 HG00609.hp1 HG00621.hp1 others(14): Show |
intron_variant | MODIFIER | c.-38+209_-38+210ins others(35): Show |
EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 1/19 | chr19 | 55076128 | |||||||
| chr19:55076131 | GA | G | 3 | a0001c0001t0001g0015 a0001c0001t0001g0023 a0001c0001t0001g0123 |
10 | HG00735.hp2 HG01109.hp1 HG01192.hp2 others(7): Show |
intron_variant | MODIFIER | c.-38+213delA | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 1/19 | chr19 | 55076131 | |||||||
| chr19:55076132 | A | G | 12 | a0003c0003t0001g0016 a0003c0003t0001g0126 a0003c0003t0001g0127 others(9): Show |
16 | HG00639.hp2 HG00741.hp1 HG01074.hp2 others(13): Show |
intron_variant | MODIFIER | c.-38+213A>G | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 1/19 | chr19 | 55076132 | |||||||
| chr19:55076133 | G | T | 15 | a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0136 others(12): Show |
28 | HG00544.hp1 HG00609.hp1 HG00621.hp1 others(25): Show |
intron_variant | MODIFIER | c.-38+214G>T | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 1/19 | chr19 | 55076133 | |||||||
| chr19:55076134 | A | C | 15 | a0001c0001t0001g0015 a0001c0001t0001g0023 a0001c0001t0001g0123 others(12): Show |
26 | HG00639.hp2 HG00735.hp2 HG00741.hp1 others(23): Show |
intron_variant | MODIFIER | c.-38+215A>C | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 1/19 | chr19 | 55076134 | |||||||
| chr19:55076134 | A | T | 15 | a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0136 others(12): Show |
28 | HG00544.hp1 HG00609.hp1 HG00621.hp1 others(25): Show |
intron_variant | MODIFIER | c.-38+215A>T | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 1/19 | chr19 | 55076134 | |||||||
| chr19:55076135 | T | G | 15 | a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0136 others(12): Show |
28 | HG00544.hp1 HG00609.hp1 HG00621.hp1 others(25): Show |
intron_variant | MODIFIER | c.-38+216T>G | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 1/19 | chr19 | 55076135 | |||||||
| chr19:55076135 | T | TGAGGGCC others(65): Show |
12 | a0003c0003t0001g0016 a0003c0003t0001g0126 a0003c0003t0001g0127 others(9): Show |
16 | HG00639.hp2 HG00741.hp1 HG01074.hp2 others(13): Show |
intron_variant | MODIFIER | c.-38+217_-38+218ins others(72): Show |
EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr19 | 55076135 | ||||||
| chr19:55076139 | G | GT | 3 | a0001c0001t0001g0015 a0001c0001t0001g0023 a0001c0001t0001g0123 |
10 | HG00735.hp2 HG01109.hp1 HG01192.hp2 others(7): Show |
intron_variant | MODIFIER | c.-38+220_-38+221ins others(1): Show |
EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 1/19 | chr19 | 55076139 | |||||||
| chr19:55076156 | T | C | 2 | a0001c0001t0001g0009 a0001c0001t0001g0038 |
9 | HG01243.hp2 HG01884.hp2 HG01891.hp2 others(6): Show |
intron_variant | MODIFIER | c.-38+237T>C | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 1/19 | chr19 | 55076156 | |||||||
| chr19:55076166 | GT | G | 27 | a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0136 others(24): Show |
44 | HG00544.hp1 HG00609.hp1 HG00621.hp1 others(41): Show |
intron_variant | MODIFIER | c.-37-241delT | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 1/19 | chr19 | 55076166 | |||||||
| chr19:55076167 | T | G | 3 | a0001c0001t0001g0015 a0001c0001t0001g0023 a0001c0001t0001g0123 |
10 | HG00735.hp2 HG01109.hp1 HG01192.hp2 others(7): Show |
intron_variant | MODIFIER | c.-37-241T>G | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 1/19 | chr19 | 55076167 | |||||||
| chr19:55076168 | G | A | 3 | a0001c0001t0001g0015 a0001c0001t0001g0023 a0001c0001t0001g0123 |
10 | HG00735.hp2 HG01109.hp1 HG01192.hp2 others(7): Show |
intron_variant | MODIFIER | c.-37-240G>A | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 1/19 | chr19 | 55076168 | |||||||
| chr19:55076169 | G | A | 27 | a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0136 others(24): Show |
44 | HG00544.hp1 HG00609.hp1 HG00621.hp1 others(41): Show |
intron_variant | MODIFIER | c.-37-239G>A | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 1/19 | chr19 | 55076169 | |||||||
| chr19:55076170 | A | G | 27 | a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0136 others(24): Show |
44 | HG00544.hp1 HG00609.hp1 HG00621.hp1 others(41): Show |
intron_variant | MODIFIER | c.-37-238A>G | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 1/19 | chr19 | 55076170 | |||||||
| chr19:55076170 | AC | A | 3 | a0001c0001t0001g0015 a0001c0001t0001g0023 a0001c0001t0001g0123 |
10 | HG00735.hp2 HG01109.hp1 HG01192.hp2 others(7): Show |
intron_variant | MODIFIER | c.-37-237delC | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 1/19 | chr19 | 55076170 | |||||||
| chr19:55076177 | T | C | 30 | a0001c0001t0001g0015 a0001c0001t0001g0023 a0001c0001t0001g0045 others(27): Show |
54 | HG00544.hp1 HG00609.hp1 HG00621.hp1 others(51): Show |
intron_variant | MODIFIER | c.-37-231T>C | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 1/19 | chr19 | 55076177 | |||||||
| chr19:55076204 | G | T | 30 | a0001c0001t0001g0015 a0001c0001t0001g0023 a0001c0001t0001g0045 others(27): Show |
54 | HG00544.hp1 HG00609.hp1 HG00621.hp1 others(51): Show |
intron_variant | MODIFIER | c.-37-204G>T | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 1/19 | chr19 | 55076204 | |||||||
| chr19:55076230 | T | TG | 3 | a0001c0001t0001g0015 a0001c0001t0001g0023 a0001c0001t0001g0123 |
10 | HG00735.hp2 HG01109.hp1 HG01192.hp2 others(7): Show |
intron_variant | MODIFIER | c.-37-178_-37-177ins others(1): Show |
EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 1/19 | chr19 | 55076230 | |||||||
| chr19:55076236 | A | G | 3 | a0001c0001t0001g0015 a0001c0001t0001g0023 a0001c0001t0001g0123 |
10 | HG00735.hp2 HG01109.hp1 HG01192.hp2 others(7): Show |
intron_variant | MODIFIER | c.-37-172A>G | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 1/19 | chr19 | 55076236 | |||||||
| chr19:55076238 | A | AG | 3 | a0001c0001t0001g0015 a0001c0001t0001g0023 a0001c0001t0001g0123 |
10 | HG00735.hp2 HG01109.hp1 HG01192.hp2 others(7): Show |
intron_variant | MODIFIER | c.-37-167dupG | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr19 | 55076238 | ||||||
| chr19:55076249 | C | T | 3 | a0001c0001t0001g0015 a0001c0001t0001g0023 a0001c0001t0001g0123 |
10 | HG00735.hp2 HG01109.hp1 HG01192.hp2 others(7): Show |
intron_variant | MODIFIER | c.-37-159C>T | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 1/19 | chr19 | 55076249 | |||||||
| chr19:55076257 | T | C | 3 | a0001c0001t0001g0015 a0001c0001t0001g0023 a0001c0001t0001g0123 |
10 | HG00735.hp2 HG01109.hp1 HG01192.hp2 others(7): Show |
intron_variant | MODIFIER | c.-37-151T>C | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 1/19 | chr19 | 55076257 | |||||||
| chr19:55076265 | TG | T | 3 | a0001c0001t0001g0015 a0001c0001t0001g0023 a0001c0001t0001g0123 |
10 | HG00735.hp2 HG01109.hp1 HG01192.hp2 others(7): Show |
intron_variant | MODIFIER | c.-37-142delG | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 1/19 | chr19 | 55076265 | |||||||
| chr19:55076272 | G | A | 3 | a0001c0001t0001g0015 a0001c0001t0001g0023 a0001c0001t0001g0123 |
10 | HG00735.hp2 HG01109.hp1 HG01192.hp2 others(7): Show |
intron_variant | MODIFIER | c.-37-136G>A | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 1/19 | chr19 | 55076272 | |||||||
| chr19:55076278 | G | A | 3 | a0001c0001t0001g0015 a0001c0001t0001g0023 a0001c0001t0001g0123 |
10 | HG00735.hp2 HG01109.hp1 HG01192.hp2 others(7): Show |
intron_variant | MODIFIER | c.-37-130G>A | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 1/19 | chr19 | 55076278 | |||||||
| chr19:55076280 | TG | T | 30 | a0001c0001t0001g0015 a0001c0001t0001g0023 a0001c0001t0001g0045 others(27): Show |
54 | HG00544.hp1 HG00609.hp1 HG00621.hp1 others(51): Show |
intron_variant | MODIFIER | c.-37-123delG | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr19 | 55076280 | ||||||
| chr19:55076290 | G | A | 27 | a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0136 others(24): Show |
44 | HG00544.hp1 HG00609.hp1 HG00621.hp1 others(41): Show |
intron_variant | MODIFIER | c.-37-118G>A | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 1/19 | chr19 | 55076290 | |||||||
| chr19:55076300 | C | T | 27 | a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0136 others(24): Show |
44 | HG00544.hp1 HG00609.hp1 HG00621.hp1 others(41): Show |
intron_variant | MODIFIER | c.-37-108C>T | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 1/19 | chr19 | 55076300 | |||||||
| chr19:55076354 | G | T | 1 | a0003c0003t0001g0135 | 1 | HG02004.hp2 | intron_variant | MODIFIER | c.-37-54G>T | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 1/19 | chr19 | 55076354 | |||||||
| chr19:55076374 | C | T | 1 | a0002c0002t0001g0122 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.-37-34C>T | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 1/19 | chr19 | 55076374 | |||||||
| chr19:55076383 | C | A | 1 | a0001c0001t0001g0070 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.-37-25C>A | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 1/19 | chr19 | 55076383 | |||||||
| chr19:55076499 | G | A | 2 | a0001c0001t0001g0029 a0001c0001t0001g0070 |
4 | HG01891.hp1 HG03130.hp2 HG03516.hp2 others(1): Show |
intron_variant | MODIFIER | c.17+38G>A | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 2/19 | chr19 | 55076499 | |||||||
| chr19:55076516 | G | A | 4 | a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0136 others(1): Show |
6 | HG01255.hp2 HG01346.hp2 HG01515.hp1 others(3): Show |
intron_variant | MODIFIER | c.17+55G>A | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 2/19 | chr19 | 55076516 | |||||||
| chr19:55076539 | C | T | 2 | a0002c0002t0001g0067 a0002c0002t0001g0068 |
2 | HG02602.hp2 HG03239.hp1 |
intron_variant | MODIFIER | c.17+78C>T | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 2/19 | chr19 | 55076539 | |||||||
| chr19:55076585 | C | T | 1 | a0001c0001t0001g0121 | 1 | HG00544.hp2 | intron_variant | MODIFIER | c.17+124C>T | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 2/19 | chr19 | 55076585 | |||||||
| chr19:55076638 | G | C | 81 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 others(78): Show |
197 | HG00408.hp2 HG00423.hp2 HG00438.hp1 others(194): Show |
intron_variant | MODIFIER | c.17+177G>C | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 2/19 | chr19 | 55076638 | |||||||
| chr19:55076854 | G | A | 1 | a0002c0002t0001g0138 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.17+393G>A | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 2/19 | chr19 | 55076854 | |||||||
| chr19:55076953 | T | C | 1 | a0002c0002t0001g0052 | 1 | NA19066.hp1 | intron_variant | MODIFIER | c.17+492T>C | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 2/19 | chr19 | 55076953 | |||||||
| chr19:55077028 | C | T | 1 | a0001c0008t0001g0124 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.17+567C>T | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 2/19 | chr19 | 55077028 | |||||||
| chr19:55077043 | A | G | 92 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 others(89): Show |
210 | HG00408.hp2 HG00423.hp2 HG00438.hp1 others(207): Show |
intron_variant | MODIFIER | c.17+582A>G | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 2/19 | chr19 | 55077043 | |||||||
| chr19:55077122 | C | T | 1 | a0002c0002t0001g0138 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.17+661C>T | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 2/19 | chr19 | 55077122 | |||||||
| chr19:55077123 | A | G | 103 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 others(100): Show |
234 | HG00408.hp2 HG00423.hp2 HG00438.hp1 others(231): Show |
intron_variant | MODIFIER | c.17+662A>G | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 2/19 | chr19 | 55077123 | |||||||
| chr19:55077283 | A | G | 104 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 others(101): Show |
237 | HG00408.hp2 HG00423.hp2 HG00438.hp1 others(234): Show |
intron_variant | MODIFIER | c.18-805A>G | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 2/19 | chr19 | 55077283 | |||||||
| chr19:55077331 | GCATCTTA others(3): Show |
G | 2 | a0001c0001t0001g0030 a0001c0001t0001g0075 |
4 | HG02074.hp1 NA18943.hp1 NA18952.hp1 others(1): Show |
intron_variant | MODIFIER | c.18-756_18-747delCA others(8): Show |
EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 2/19 | chr19 | 55077331 | |||||||
| chr19:55077358 | T | C | 23 | a0001c0001t0001g0029 a0001c0001t0001g0070 a0001c0001t0001g0140 others(20): Show |
40 | HG00544.hp1 HG00609.hp1 HG00621.hp1 others(37): Show |
intron_variant | MODIFIER | c.18-730T>C | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 2/19 | chr19 | 55077358 | |||||||
| chr19:55077429 | C | T | 1 | a0001c0008t0001g0124 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.18-659C>T | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 2/19 | chr19 | 55077429 | |||||||
| chr19:55077568 | G | A | 3 | a0002c0002t0001g0036 a0002c0002t0001g0053 a0013c0015t0001g0036 |
3 | HG02055.hp2 NA19240.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.18-520G>A | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 2/19 | chr19 | 55077568 | |||||||
| chr19:55077584 | C | CT | 69 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 others(66): Show |
189 | HG00280.hp1 HG00408.hp1 HG00408.hp2 others(186): Show |
intron_variant | MODIFIER | c.18-481dupT | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr19 | 55077584 | ||||||
| chr19:55077584 | C | CTT | 25 | a0001c0001t0001g0022 a0001c0001t0001g0033 a0001c0001t0001g0038 others(22): Show |
33 | HG00544.hp1 HG00735.hp1 HG01175.hp1 others(30): Show |
intron_variant | MODIFIER | c.18-482_18-481dupTT | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr19 | 55077584 | ||||||
| chr19:55077615 | A | G | 109 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 others(106): Show |
244 | HG00408.hp2 HG00423.hp2 HG00438.hp1 others(241): Show |
intron_variant | MODIFIER | c.18-473A>G | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 2/19 | chr19 | 55077615 | |||||||
| chr19:55077624 | C | G | 4 | a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0136 others(1): Show |
6 | HG01255.hp2 HG01346.hp2 HG01515.hp1 others(3): Show |
intron_variant | MODIFIER | c.18-464C>G | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 2/19 | chr19 | 55077624 | |||||||
| chr19:55077641 | T | C | 24 | a0001c0001t0002g0139 a0001c0008t0001g0124 a0003c0003t0001g0007 others(21): Show |
45 | HG00544.hp1 HG00609.hp1 HG00621.hp1 others(42): Show |
intron_variant | MODIFIER | c.18-447T>C | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 2/19 | chr19 | 55077641 | |||||||
| chr19:55077675 | G | A | 1 | a0002c0002t0001g0063 | 1 | NA18975.hp2 | intron_variant | MODIFIER | c.18-413G>A | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 2/19 | chr19 | 55077675 | |||||||
| chr19:55077724 | C | G | 109 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 others(106): Show |
244 | HG00408.hp2 HG00423.hp2 HG00438.hp1 others(241): Show |
intron_variant | MODIFIER | c.18-364C>G | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 2/19 | chr19 | 55077724 | |||||||
| chr19:55077738 | A | G | 96 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 others(93): Show |
221 | HG00408.hp2 HG00423.hp2 HG00438.hp1 others(218): Show |
intron_variant | MODIFIER | c.18-350A>G | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 2/19 | chr19 | 55077738 | |||||||
| chr19:55077772 | A | G | 2 | a0002c0002t0001g0063 a0012c0014t0001g0064 |
2 | NA18975.hp2 NA18981.hp2 |
intron_variant | MODIFIER | c.18-316A>G | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 2/19 | chr19 | 55077772 | |||||||
| chr19:55077809 | A | G | 1 | a0001c0008t0001g0124 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.18-279A>G | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 2/19 | chr19 | 55077809 | |||||||
| chr19:55077931 | TCAA | T | 9 | a0001c0001t0001g0003 a0001c0001t0001g0032 a0001c0001t0001g0044 others(6): Show |
23 | HG00408.hp2 HG01255.hp1 HG01496.hp2 others(20): Show |
intron_variant | MODIFIER | c.18-156_18-154delCA others(1): Show |
EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 2/19 | chr19 | 55077931 | |||||||
| chr19:55077932 | C | CAAT | 10 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0030 others(7): Show |
13 | HG00639.hp1 HG00741.hp1 HG01167.hp2 others(10): Show |
intron_variant | MODIFIER | c.18-117_18-115dupTA others(1): Show |
EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr19 | 55077932 | ||||||
| chr19:55077932 | C | T | 8 | a0001c0001t0001g0001 a0001c0001t0001g0022 a0001c0001t0001g0041 others(5): Show |
18 | HG01256.hp1 HG02155.hp1 HG02523.hp2 others(15): Show |
intron_variant | MODIFIER | c.18-156C>T | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 2/19 | chr19 | 55077932 | |||||||
| chr19:55077932 | CAAT | C | 36 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(33): Show |
60 | HG00438.hp1 HG00544.hp1 HG00597.hp1 others(57): Show |
intron_variant | MODIFIER | c.18-117_18-115delTA others(1): Show |
EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr19 | 55077932 | ||||||
| chr19:55077932 | CAATAAT | C | 10 | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0013 others(7): Show |
13 | HG00438.hp2 HG01515.hp2 HG02258.hp2 others(10): Show |
intron_variant | MODIFIER | c.18-120_18-115delTA others(4): Show |
EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr19 | 55077932 | ||||||
| chr19:55077932 | CAATAATA others(8): Show |
C | 1 | a0002c0002t0001g0059 | 1 | NA18962.hp1 | intron_variant | MODIFIER | c.18-129_18-115delTA others(13): Show |
EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr19 | 55077932 | ||||||
| chr19:55077940 | A | T | 1 | a0001c0001t0002g0139 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.18-148A>T | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 2/19 | chr19 | 55077940 | |||||||
| chr19:55077983 | C | T | 1 | a0001c0001t0001g0101 | 1 | HG00597.hp1 | intron_variant | MODIFIER | c.18-105C>T | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 2/19 | chr19 | 55077983 | |||||||
| chr19:55078016 | T | C | 4 | a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0136 others(1): Show |
6 | HG01255.hp2 HG01346.hp2 HG01515.hp1 others(3): Show |
intron_variant | MODIFIER | c.18-72T>C | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 2/19 | chr19 | 55078016 | |||||||
| chr19:55078029 | A | G | 6 | a0001c0001t0001g0140 a0001c0001t0001g0142 a0001c0001t0002g0139 others(3): Show |
6 | HG02258.hp2 HG02572.hp1 HG03516.hp1 others(3): Show |
intron_variant | MODIFIER | c.18-59A>G | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 2/19 | chr19 | 55078029 | |||||||
| chr19:55078068 | A | T | 18 | a0001c0001t0001g0015 a0001c0001t0001g0023 a0001c0001t0001g0039 others(15): Show |
30 | HG00735.hp2 HG01109.hp1 HG01192.hp2 others(27): Show |
intron_variant | MODIFIER | c.18-20A>T | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 2/19 | chr19 | 55078068 | |||||||
| chr19:55078135 | G | A | 1 | a0008c0009t0001g0125 | 1 | HG02258.hp2 | splice_region_variant&intron_variant | LOW | c.58+7G>A | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 3/19 | chr19 | 55078135 | |||||||
| chr19:55078176 | G | A | 61 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 others(58): Show |
161 | HG00408.hp2 HG00423.hp2 HG00438.hp1 others(158): Show |
intron_variant | MODIFIER | c.58+48G>A | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 3/19 | chr19 | 55078176 | |||||||
| chr19:55078203 | G | C | 5 | a0001c0001t0001g0140 a0001c0001t0001g0142 a0001c0001t0002g0139 others(2): Show |
5 | HG02572.hp1 HG03516.hp1 HG06807.hp1 others(2): Show |
intron_variant | MODIFIER | c.58+75G>C | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 3/19 | chr19 | 55078203 | |||||||
| chr19:55078205 | A | AGGAGGAG others(67): Show |
1 | a0003c0003t0001g0144 | 1 | HG01123.hp1 | intron_variant | MODIFIER | c.58+94_58+95insCCTG others(70): Show |
EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr19 | 55078205 | ||||||
| chr19:55078205 | A | AGGAGGAG others(178): Show |
10 | a0003c0003t0001g0007 a0003c0003t0001g0016 a0003c0003t0001g0034 others(7): Show |
25 | HG00544.hp1 HG00609.hp1 HG00621.hp1 others(22): Show |
intron_variant | MODIFIER | c.58+94_58+95insCCTG others(181): Show |
EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr19 | 55078205 | ||||||
| chr19:55078223 | T | C | 20 | a0003c0003t0001g0007 a0003c0003t0001g0016 a0003c0003t0001g0034 others(17): Show |
41 | HG00544.hp1 HG00609.hp1 HG00621.hp1 others(38): Show |
intron_variant | MODIFIER | c.58+95T>C | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 3/19 | chr19 | 55078223 | |||||||
| chr19:55078223 | T | G | 1 | a0008c0009t0001g0125 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.58+95T>G | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 3/19 | chr19 | 55078223 | |||||||
| chr19:55078223 | TCTGGACT others(104): Show |
T | 5 | a0001c0001t0001g0042 a0001c0001t0001g0087 a0001c0001t0001g0112 others(2): Show |
6 | HG01109.hp2 HG02559.hp2 HG02922.hp1 others(3): Show |
intron_variant | MODIFIER | c.58+132_58+242del | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr19 | 55078223 | ||||||
| chr19:55078235 | AGTCAGAG others(215): Show |
A | 31 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0011 others(28): Show |
94 | HG00408.hp2 HG00733.hp2 HG01168.hp1 others(91): Show |
intron_variant | MODIFIER | c.58+123_58+344del | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr19 | 55078235 | ||||||
| chr19:55078235 | AGTCAGAG others(252): Show |
A | 1 | a0002c0002t0001g0138 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.58+123_58+381del | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr19 | 55078235 | ||||||
| chr19:55078235 | AGTCAGAG others(326): Show |
A | 1 | a0010c0011t0001g0141 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.58+123_59-416del | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr19 | 55078235 | ||||||
| chr19:55078251 | T | G | 3 | a0001c0001t0001g0099 a0001c0001t0001g0106 a0001c0001t0002g0139 |
3 | HG02165.hp1 HG02572.hp1 HG03017.hp1 |
intron_variant | MODIFIER | c.58+123T>G | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 3/19 | chr19 | 55078251 | |||||||
| chr19:55078251 | T | TGCTGGGG others(400): Show |
1 | a0003c0003t0001g0132 | 1 | HG01258.hp1 | intron_variant | MODIFIER | c.58+131_58+132insCC others(405): Show |
EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr19 | 55078251 | ||||||
| chr19:55078251 | T | TGCTGGGG others(548): Show |
1 | a0003c0003t0001g0131 | 1 | HG00741.hp1 | intron_variant | MODIFIER | c.58+131_58+132insCC others(553): Show |
EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr19 | 55078251 | ||||||
| chr19:55078251 | T | TGCTGGGG others(244): Show |
1 | a0003c0003t0001g0126 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.58+131_58+132insCC others(249): Show |
EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr19 | 55078251 | ||||||
| chr19:55078251 | TGCTGGGG others(67): Show |
T | 16 | a0001c0001t0001g0005 a0001c0001t0001g0009 a0001c0001t0001g0012 others(13): Show |
37 | HG00423.hp2 HG00544.hp2 HG00597.hp1 others(34): Show |
intron_variant | MODIFIER | c.58+132_58+205delTC others(72): Show |
EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr19 | 55078251 | ||||||
| chr19:55078251 | TGCTGGGG others(178): Show |
T | 2 | a0001c0001t0001g0100 a0008c0009t0001g0125 |
2 | HG00438.hp1 HG02258.hp2 |
intron_variant | MODIFIER | c.58+132_58+316del | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr19 | 55078251 | ||||||
| chr19:55078254 | TGGGGGTC others(179): Show |
T | 1 | a0001c0001t0002g0139 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.58+132_58+317del | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr19 | 55078254 | ||||||
| chr19:55078260 | T | C | 25 | a0001c0001t0001g0006 a0001c0001t0001g0021 a0001c0001t0001g0030 others(22): Show |
61 | HG00438.hp2 HG00544.hp1 HG00609.hp1 others(58): Show |
intron_variant | MODIFIER | c.58+132T>C | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 3/19 | chr19 | 55078260 | |||||||
| chr19:55078260 | T | G | 6 | a0001c0001t0001g0099 a0001c0001t0001g0106 a0001c0008t0001g0124 others(3): Show |
6 | HG00741.hp1 HG01258.hp1 HG02165.hp1 others(3): Show |
intron_variant | MODIFIER | c.58+132T>G | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 3/19 | chr19 | 55078260 | |||||||
| chr19:55078260 | TCTGGACT others(104): Show |
T | 2 | a0001c0001t0001g0015 a0001c0001t0001g0123 |
6 | HG00735.hp2 HG01109.hp1 HG02451.hp2 others(3): Show |
intron_variant | MODIFIER | c.58+180_58+290del | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr19 | 55078260 | ||||||
| chr19:55078260 | TCTGGACT others(141): Show |
T | 2 | a0001c0001t0001g0082 a0006c0007t0001g0081 |
2 | HG02809.hp2 HG03195.hp1 |
intron_variant | MODIFIER | c.58+180_58+327del | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr19 | 55078260 | ||||||
| chr19:55078283 | AGAGGGGC others(30): Show |
A | 8 | a0001c0001t0001g0006 a0001c0001t0001g0021 a0001c0001t0001g0030 others(5): Show |
23 | HG00438.hp2 HG00735.hp1 HG01167.hp1 others(20): Show |
intron_variant | MODIFIER | c.58+169_58+205delGC others(35): Show |
EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr19 | 55078283 | ||||||
| chr19:55078283 | AGAGGGGC others(659): Show |
A | 1 | a0002c0002t0001g0076 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.58+167_59-39del | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr19 | 55078283 | ||||||
| chr19:55078297 | GCTGGACT others(67): Show |
G | 8 | a0001c0001t0001g0023 a0001c0001t0001g0080 a0001c0001t0001g0106 others(5): Show |
11 | HG01192.hp2 HG01884.hp1 HG02004.hp2 others(8): Show |
intron_variant | MODIFIER | c.58+180_58+253delAG others(72): Show |
EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr19 | 55078297 | ||||||
| chr19:55078308 | A | G | 6 | a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0072 others(3): Show |
11 | HG02109.hp2 HG02145.hp2 HG02486.hp2 others(8): Show |
intron_variant | MODIFIER | c.58+180A>G | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 3/19 | chr19 | 55078308 | |||||||
| chr19:55078312 | T | C | 6 | a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0072 others(3): Show |
11 | HG02109.hp2 HG02145.hp2 HG02486.hp2 others(8): Show |
intron_variant | MODIFIER | c.58+184T>C | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 3/19 | chr19 | 55078312 | |||||||
| chr19:55078313 | T | A | 6 | a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0072 others(3): Show |
11 | HG02109.hp2 HG02145.hp2 HG02486.hp2 others(8): Show |
intron_variant | MODIFIER | c.58+185T>A | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 3/19 | chr19 | 55078313 | |||||||
| chr19:55078320 | G | A | 6 | a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0072 others(3): Show |
11 | HG02109.hp2 HG02145.hp2 HG02486.hp2 others(8): Show |
intron_variant | MODIFIER | c.58+192G>A | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 3/19 | chr19 | 55078320 | |||||||
| chr19:55078320 | GGAGGGGC others(67): Show |
G | 4 | a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0136 others(1): Show |
6 | HG01255.hp2 HG01346.hp2 HG01515.hp1 others(3): Show |
intron_variant | MODIFIER | c.58+206_58+279delCC others(72): Show |
EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr19 | 55078320 | ||||||
| chr19:55078325 | G | T | 8 | a0001c0001t0001g0006 a0001c0001t0001g0021 a0001c0001t0001g0030 others(5): Show |
23 | HG00438.hp2 HG00735.hp1 HG01167.hp1 others(20): Show |
intron_variant | MODIFIER | c.58+197G>T | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 3/19 | chr19 | 55078325 | |||||||
| chr19:55078334 | C | G | 1 | a0001c0008t0001g0124 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.58+206C>G | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 3/19 | chr19 | 55078334 | |||||||
| chr19:55078334 | C | T | 6 | a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0072 others(3): Show |
11 | HG02109.hp2 HG02145.hp2 HG02486.hp2 others(8): Show |
intron_variant | MODIFIER | c.58+206C>T | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 3/19 | chr19 | 55078334 | |||||||
| chr19:55078346 | A | G | 31 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0009 others(28): Show |
72 | HG00423.hp2 HG00438.hp2 HG00544.hp2 others(69): Show |
intron_variant | MODIFIER | c.58+218A>G | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 3/19 | chr19 | 55078346 | |||||||
| chr19:55078362 | T | G | 4 | a0001c0001t0001g0087 a0001c0001t0001g0140 a0001c0001t0001g0142 others(1): Show |
4 | HG02809.hp1 HG02922.hp1 HG03516.hp1 others(1): Show |
intron_variant | MODIFIER | c.58+234T>G | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 3/19 | chr19 | 55078362 | |||||||
| chr19:55078371 | C | G | 10 | a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0072 others(7): Show |
15 | HG02109.hp2 HG02145.hp2 HG02486.hp2 others(12): Show |
intron_variant | MODIFIER | c.58+243C>G | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 3/19 | chr19 | 55078371 | |||||||
| chr19:55078371 | CCTGGACT others(30): Show |
C | 5 | a0004c0004t0001g0010 a0004c0004t0001g0084 a0004c0004t0001g0085 others(2): Show |
11 | HG01123.hp2 HG01167.hp2 HG01981.hp2 others(8): Show |
intron_variant | MODIFIER | c.58+428_59-407delGC others(35): Show |
EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr19 | 55078371 | ||||||
| chr19:55078371 | CCTGGACT others(67): Show |
C | 1 | a0002c0002t0001g0008 | 1 | HG04184.hp2 | intron_variant | MODIFIER | c.58+391_59-407delGC others(72): Show |
EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr19 | 55078371 | ||||||
| chr19:55078371 | CCTGGACT others(104): Show |
C | 1 | a0002c0002t0001g0050 | 1 | HG02040.hp1 | intron_variant | MODIFIER | c.58+354_59-407del | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr19 | 55078371 | ||||||
| chr19:55078382 | G | A | 1 | a0001c0008t0001g0124 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.58+254G>A | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 3/19 | chr19 | 55078382 | |||||||
| chr19:55078383 | G | A | 13 | a0001c0001t0001g0005 a0001c0001t0001g0009 a0001c0001t0001g0012 others(10): Show |
34 | HG00423.hp2 HG00544.hp2 HG00597.hp1 others(31): Show |
intron_variant | MODIFIER | c.58+255G>A | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 3/19 | chr19 | 55078383 | |||||||
| chr19:55078386 | C | T | 1 | a0001c0008t0001g0124 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.58+258C>T | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 3/19 | chr19 | 55078386 | |||||||
| chr19:55078387 | A | T | 1 | a0001c0008t0001g0124 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.58+259A>T | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 3/19 | chr19 | 55078387 | |||||||
| chr19:55078394 | A | G | 1 | a0001c0008t0001g0124 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.58+266A>G | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 3/19 | chr19 | 55078394 | |||||||
| chr19:55078399 | G | T | 13 | a0001c0001t0001g0006 a0001c0001t0001g0021 a0001c0001t0001g0030 others(10): Show |
29 | HG00438.hp2 HG00735.hp1 HG01109.hp2 others(26): Show |
intron_variant | MODIFIER | c.58+271G>T | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 3/19 | chr19 | 55078399 | |||||||
| chr19:55078408 | G | C | 14 | a0001c0001t0001g0006 a0001c0001t0001g0021 a0001c0001t0001g0030 others(11): Show |
30 | HG00438.hp2 HG00735.hp1 HG01109.hp2 others(27): Show |
intron_variant | MODIFIER | c.58+280G>C | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 3/19 | chr19 | 55078408 | |||||||
| chr19:55078408 | G | GCTGGACT others(178): Show |
11 | a0003c0003t0001g0007 a0003c0003t0001g0016 a0003c0003t0001g0034 others(8): Show |
26 | HG00544.hp1 HG00609.hp1 HG00621.hp1 others(23): Show |
intron_variant | MODIFIER | c.58+401_58+402insAG others(183): Show |
EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr19 | 55078408 | ||||||
| chr19:55078408 | G | T | 8 | a0001c0001t0001g0023 a0001c0001t0001g0080 a0001c0008t0001g0078 others(5): Show |
11 | HG01192.hp2 HG01884.hp1 HG02004.hp2 others(8): Show |
intron_variant | MODIFIER | c.58+280G>T | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 3/19 | chr19 | 55078408 | |||||||
| chr19:55078419 | G | A | 1 | a0001c0001t0001g0106 | 1 | HG02165.hp1 | intron_variant | MODIFIER | c.58+291G>A | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 3/19 | chr19 | 55078419 | |||||||
| chr19:55078420 | G | A | 11 | a0001c0001t0001g0006 a0001c0001t0001g0021 a0001c0001t0001g0030 others(8): Show |
27 | HG00438.hp2 HG00735.hp1 HG01109.hp2 others(24): Show |
intron_variant | MODIFIER | c.58+292G>A | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 3/19 | chr19 | 55078420 | |||||||
| chr19:55078423 | C | T | 1 | a0001c0001t0001g0106 | 1 | HG02165.hp1 | intron_variant | MODIFIER | c.58+295C>T | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 3/19 | chr19 | 55078423 | |||||||
| chr19:55078424 | A | T | 1 | a0001c0001t0001g0106 | 1 | HG02165.hp1 | intron_variant | MODIFIER | c.58+296A>T | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 3/19 | chr19 | 55078424 | |||||||
| chr19:55078431 | A | G | 1 | a0001c0001t0001g0106 | 1 | HG02165.hp1 | intron_variant | MODIFIER | c.58+303A>G | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 3/19 | chr19 | 55078431 | |||||||
| chr19:55078436 | G | T | 17 | a0001c0001t0001g0023 a0001c0001t0001g0039 a0001c0001t0001g0040 others(14): Show |
25 | HG01192.hp2 HG01884.hp1 HG01978.hp1 others(22): Show |
intron_variant | MODIFIER | c.58+308G>T | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 3/19 | chr19 | 55078436 | |||||||
| chr19:55078445 | G | C | 7 | a0001c0001t0001g0100 a0001c0001t0001g0106 a0001c0001t0001g0118 others(4): Show |
7 | HG00438.hp1 HG01978.hp1 HG02165.hp1 others(4): Show |
intron_variant | MODIFIER | c.58+317G>C | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 3/19 | chr19 | 55078445 | |||||||
| chr19:55078445 | G | T | 10 | a0001c0001t0001g0015 a0001c0001t0001g0039 a0001c0001t0001g0040 others(7): Show |
19 | HG00735.hp2 HG01109.hp1 HG02109.hp2 others(16): Show |
intron_variant | MODIFIER | c.58+317G>T | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 3/19 | chr19 | 55078445 | |||||||
| chr19:55078456 | G | A | 5 | a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0087 others(2): Show |
7 | HG01255.hp2 HG01346.hp2 HG01515.hp1 others(4): Show |
intron_variant | MODIFIER | c.58+328G>A | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 3/19 | chr19 | 55078456 | |||||||
| chr19:55078457 | G | A | 10 | a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0072 others(7): Show |
15 | HG01978.hp1 HG02109.hp2 HG02145.hp2 others(12): Show |
intron_variant | MODIFIER | c.58+329G>A | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 3/19 | chr19 | 55078457 | |||||||
| chr19:55078460 | C | T | 5 | a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0087 others(2): Show |
7 | HG01255.hp2 HG01346.hp2 HG01515.hp1 others(4): Show |
intron_variant | MODIFIER | c.58+332C>T | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 3/19 | chr19 | 55078460 | |||||||
| chr19:55078461 | A | T | 5 | a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0087 others(2): Show |
7 | HG01255.hp2 HG01346.hp2 HG01515.hp1 others(4): Show |
intron_variant | MODIFIER | c.58+333A>T | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 3/19 | chr19 | 55078461 | |||||||
| chr19:55078468 | A | AGAGGGGC others(178): Show |
1 | a0003c0003t0001g0132 | 1 | HG01258.hp1 | intron_variant | MODIFIER | c.58+390_58+391insTC others(183): Show |
EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr19 | 55078468 | ||||||
| chr19:55078468 | A | G | 5 | a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0087 others(2): Show |
7 | HG01255.hp2 HG01346.hp2 HG01515.hp1 others(4): Show |
intron_variant | MODIFIER | c.58+340A>G | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 3/19 | chr19 | 55078468 | |||||||
| chr19:55078473 | G | T | 10 | a0001c0001t0001g0015 a0001c0001t0001g0039 a0001c0001t0001g0040 others(7): Show |
19 | HG00438.hp1 HG00735.hp2 HG01109.hp1 others(16): Show |
intron_variant | MODIFIER | c.58+345G>T | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 3/19 | chr19 | 55078473 | |||||||
| chr19:55078482 | G | C | 5 | a0001c0001t0001g0087 a0001c0001t0001g0100 a0001c0001t0001g0140 others(2): Show |
5 | HG00438.hp1 HG02258.hp2 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.58+354G>C | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 3/19 | chr19 | 55078482 | |||||||
| chr19:55078482 | G | T | 9 | a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0072 others(6): Show |
14 | HG02109.hp2 HG02145.hp2 HG02486.hp2 others(11): Show |
intron_variant | MODIFIER | c.58+354G>T | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 3/19 | chr19 | 55078482 | |||||||
| chr19:55078482 | GCTGGACT others(363): Show |
G | 1 | a0001c0008t0001g0124 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.58+402_59-100del | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr19 | 55078482 | ||||||
| chr19:55078493 | G | A | 14 | a0001c0001t0001g0005 a0001c0001t0001g0009 a0001c0001t0001g0012 others(11): Show |
35 | HG00423.hp2 HG00544.hp2 HG00597.hp1 others(32): Show |
intron_variant | MODIFIER | c.58+365G>A | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 3/19 | chr19 | 55078493 | |||||||
| chr19:55078494 | G | A | 7 | a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0087 others(4): Show |
9 | HG00438.hp1 HG01255.hp2 HG01346.hp2 others(6): Show |
intron_variant | MODIFIER | c.58+366G>A | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 3/19 | chr19 | 55078494 | |||||||
| chr19:55078497 | C | T | 14 | a0001c0001t0001g0005 a0001c0001t0001g0009 a0001c0001t0001g0012 others(11): Show |
35 | HG00423.hp2 HG00544.hp2 HG00597.hp1 others(32): Show |
intron_variant | MODIFIER | c.58+369C>T | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 3/19 | chr19 | 55078497 | |||||||
| chr19:55078498 | A | T | 16 | a0001c0001t0001g0005 a0001c0001t0001g0009 a0001c0001t0001g0012 others(13): Show |
37 | HG00423.hp2 HG00544.hp2 HG00597.hp1 others(34): Show |
intron_variant | MODIFIER | c.58+370A>T | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 3/19 | chr19 | 55078498 | |||||||
| chr19:55078501 | G | T | 2 | a0001c0001t0001g0140 a0001c0001t0001g0142 |
2 | HG03516.hp1 HG06807.hp1 |
intron_variant | MODIFIER | c.58+373G>T | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 3/19 | chr19 | 55078501 | |||||||
| chr19:55078505 | A | G | 16 | a0001c0001t0001g0005 a0001c0001t0001g0009 a0001c0001t0001g0012 others(13): Show |
37 | HG00423.hp2 HG00544.hp2 HG00597.hp1 others(34): Show |
intron_variant | MODIFIER | c.58+377A>G | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 3/19 | chr19 | 55078505 | |||||||
| chr19:55078505 | AGAGGGGC others(326): Show |
A | 1 | a0001c0001t0001g0099 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.58+391_59-148del | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr19 | 55078505 | ||||||
| chr19:55078510 | G | T | 10 | a0001c0001t0001g0023 a0001c0001t0001g0080 a0001c0001t0001g0082 others(7): Show |
13 | HG01192.hp2 HG01884.hp1 HG02004.hp2 others(10): Show |
intron_variant | MODIFIER | c.58+382G>T | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 3/19 | chr19 | 55078510 | |||||||
| chr19:55078513 | TGGGGGGC others(31): Show |
T | 1 | a0001c0001t0001g0087 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.58+391_58+428delGC others(36): Show |
EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr19 | 55078513 | ||||||
| chr19:55078519 | G | C | 17 | a0001c0001t0001g0005 a0001c0001t0001g0009 a0001c0001t0001g0012 others(14): Show |
38 | HG00423.hp2 HG00544.hp2 HG00597.hp1 others(35): Show |
intron_variant | MODIFIER | c.58+391G>C | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 3/19 | chr19 | 55078519 | |||||||
| chr19:55078519 | G | T | 13 | a0001c0001t0001g0023 a0001c0001t0001g0039 a0001c0001t0001g0040 others(10): Show |
21 | HG01192.hp2 HG01884.hp1 HG02004.hp2 others(18): Show |
intron_variant | MODIFIER | c.58+391G>T | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 3/19 | chr19 | 55078519 | |||||||
| chr19:55078530 | G | A | 13 | a0001c0001t0001g0006 a0001c0001t0001g0021 a0001c0001t0001g0030 others(10): Show |
31 | HG00438.hp2 HG00735.hp1 HG01109.hp2 others(28): Show |
intron_variant | MODIFIER | c.58+402G>A | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 3/19 | chr19 | 55078530 | |||||||
| chr19:55078531 | G | A | 30 | a0001c0001t0001g0005 a0001c0001t0001g0009 a0001c0001t0001g0012 others(27): Show |
59 | HG00423.hp2 HG00544.hp2 HG00597.hp1 others(56): Show |
intron_variant | MODIFIER | c.58+403G>A | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 3/19 | chr19 | 55078531 | |||||||
| chr19:55078531 | G | GGTCAGAG others(104): Show |
1 | a0003c0003t0001g0126 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.58+427_58+428insCC others(109): Show |
EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr19 | 55078531 | ||||||
| chr19:55078531 | G | GGTCAGAG others(141): Show |
1 | a0002c0002t0001g0066 | 1 | HG03927.hp2 | intron_variant | MODIFIER | c.59-333_59-332insTC others(146): Show |
EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr19 | 55078531 | ||||||
| chr19:55078534 | C | T | 13 | a0001c0001t0001g0006 a0001c0001t0001g0021 a0001c0001t0001g0030 others(10): Show |
31 | HG00438.hp2 HG00735.hp1 HG01109.hp2 others(28): Show |
intron_variant | MODIFIER | c.58+406C>T | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 3/19 | chr19 | 55078534 | |||||||
| chr19:55078535 | A | T | 13 | a0001c0001t0001g0006 a0001c0001t0001g0021 a0001c0001t0001g0030 others(10): Show |
31 | HG00438.hp2 HG00735.hp1 HG01109.hp2 others(28): Show |
intron_variant | MODIFIER | c.58+407A>T | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 3/19 | chr19 | 55078535 | |||||||
| chr19:55078542 | A | G | 19 | a0001c0001t0001g0006 a0001c0001t0001g0021 a0001c0001t0001g0030 others(16): Show |
42 | HG00438.hp2 HG00735.hp1 HG01109.hp2 others(39): Show |
intron_variant | MODIFIER | c.58+414A>G | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 3/19 | chr19 | 55078542 | |||||||
| chr19:55078542 | AGAGGGGC others(215): Show |
A | 3 | a0002c0002t0001g0024 a0002c0002t0001g0025 a0002c0002t0001g0054 |
7 | HG00558.hp2 HG02027.hp2 NA18944.hp1 others(4): Show |
intron_variant | MODIFIER | c.59-406_59-185del | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr19 | 55078542 | ||||||
| chr19:55078547 | G | T | 23 | a0001c0001t0001g0005 a0001c0001t0001g0009 a0001c0001t0001g0012 others(20): Show |
48 | HG00423.hp2 HG00544.hp2 HG00597.hp1 others(45): Show |
intron_variant | MODIFIER | c.58+419G>T | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 3/19 | chr19 | 55078547 | |||||||
| chr19:55078550 | TG | T | 14 | a0001c0001t0001g0005 a0001c0001t0001g0009 a0001c0001t0001g0012 others(11): Show |
35 | HG00423.hp2 HG00544.hp2 HG00597.hp1 others(32): Show |
intron_variant | MODIFIER | c.58+428delG | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr19 | 55078550 | ||||||
| chr19:55078556 | G | C | 11 | a0001c0001t0001g0006 a0001c0001t0001g0021 a0001c0001t0001g0030 others(8): Show |
27 | HG00438.hp2 HG00735.hp1 HG01109.hp2 others(24): Show |
intron_variant | MODIFIER | c.58+428G>C | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 3/19 | chr19 | 55078556 | |||||||
| chr19:55078556 | G | T | 14 | a0001c0001t0001g0015 a0001c0001t0001g0023 a0001c0001t0001g0080 others(11): Show |
21 | HG00735.hp2 HG00741.hp1 HG01109.hp1 others(18): Show |
intron_variant | MODIFIER | c.58+428G>T | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 3/19 | chr19 | 55078556 | |||||||
| chr19:55078567 | G | A | 35 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0011 others(32): Show |
98 | HG00408.hp2 HG00438.hp1 HG00733.hp2 others(95): Show |
intron_variant | MODIFIER | c.59-432G>A | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 3/19 | chr19 | 55078567 | |||||||
| chr19:55078568 | G | A | 14 | a0001c0001t0001g0006 a0001c0001t0001g0015 a0001c0001t0001g0021 others(11): Show |
34 | HG00438.hp2 HG00735.hp1 HG00735.hp2 others(31): Show |
intron_variant | MODIFIER | c.59-431G>A | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 3/19 | chr19 | 55078568 | |||||||
| chr19:55078571 | C | T | 35 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0011 others(32): Show |
98 | HG00408.hp2 HG00438.hp1 HG00733.hp2 others(95): Show |
intron_variant | MODIFIER | c.59-428C>T | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 3/19 | chr19 | 55078571 | |||||||
| chr19:55078572 | A | T | 36 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0011 others(33): Show |
99 | HG00408.hp2 HG00438.hp1 HG00733.hp2 others(96): Show |
intron_variant | MODIFIER | c.59-427A>T | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 3/19 | chr19 | 55078572 | |||||||
| chr19:55078574 | A | G | 6 | a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0072 others(3): Show |
11 | HG02109.hp2 HG02145.hp2 HG02486.hp2 others(8): Show |
intron_variant | MODIFIER | c.59-425A>G | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 3/19 | chr19 | 55078574 | |||||||
| chr19:55078575 | G | T | 1 | a0001c0001t0002g0139 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.59-424G>T | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 3/19 | chr19 | 55078575 | |||||||
| chr19:55078579 | A | G | 36 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0011 others(33): Show |
99 | HG00408.hp2 HG00438.hp1 HG00733.hp2 others(96): Show |
intron_variant | MODIFIER | c.59-420A>G | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 3/19 | chr19 | 55078579 | |||||||
| chr19:55078584 | G | T | 17 | a0001c0001t0001g0006 a0001c0001t0001g0021 a0001c0001t0001g0030 others(14): Show |
38 | HG00438.hp2 HG00735.hp1 HG01109.hp2 others(35): Show |
intron_variant | MODIFIER | c.59-415G>T | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 3/19 | chr19 | 55078584 | |||||||
| chr19:55078587 | TG | T | 14 | a0001c0001t0001g0005 a0001c0001t0001g0009 a0001c0001t0001g0012 others(11): Show |
35 | HG00423.hp2 HG00544.hp2 HG00597.hp1 others(32): Show |
intron_variant | MODIFIER | c.59-407delG | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr19 | 55078587 | ||||||
| chr19:55078592 | GT | G | 9 | a0001c0001t0001g0006 a0001c0001t0001g0021 a0001c0001t0001g0030 others(6): Show |
25 | HG00438.hp2 HG00735.hp1 HG01109.hp2 others(22): Show |
intron_variant | MODIFIER | c.59-406delT | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 3/19 | chr19 | 55078592 | |||||||
| chr19:55078593 | T | C | 52 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 others(49): Show |
136 | HG00408.hp2 HG00423.hp2 HG00438.hp1 others(133): Show |
intron_variant | MODIFIER | c.59-406T>C | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 3/19 | chr19 | 55078593 | |||||||
| chr19:55078593 | T | G | 10 | a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0112 others(7): Show |
12 | HG00741.hp1 HG01255.hp2 HG01346.hp2 others(9): Show |
intron_variant | MODIFIER | c.59-406T>G | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 3/19 | chr19 | 55078593 | |||||||
| chr19:55078604 | G | A | 6 | a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0136 others(3): Show |
8 | HG01255.hp2 HG01346.hp2 HG01515.hp1 others(5): Show |
intron_variant | MODIFIER | c.59-395G>A | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 3/19 | chr19 | 55078604 | |||||||
| chr19:55078605 | A | AGTCAGAG others(30): Show |
1 | a0002c0002t0001g0061 | 1 | NA18970.hp2 | intron_variant | MODIFIER | c.59-369_59-333dupGC others(35): Show |
EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr19 | 55078605 | ||||||
| chr19:55078605 | A | G | 22 | a0001c0001t0001g0006 a0001c0001t0001g0021 a0001c0001t0001g0030 others(19): Show |
40 | HG00438.hp2 HG00735.hp1 HG00741.hp1 others(37): Show |
intron_variant | MODIFIER | c.59-394A>G | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 3/19 | chr19 | 55078605 | |||||||
| chr19:55078608 | C | T | 6 | a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0136 others(3): Show |
8 | HG01255.hp2 HG01346.hp2 HG01515.hp1 others(5): Show |
intron_variant | MODIFIER | c.59-391C>T | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 3/19 | chr19 | 55078608 | |||||||
| chr19:55078609 | A | T | 6 | a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0136 others(3): Show |
8 | HG01255.hp2 HG01346.hp2 HG01515.hp1 others(5): Show |
intron_variant | MODIFIER | c.59-390A>T | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 3/19 | chr19 | 55078609 | |||||||
| chr19:55078616 | A | G | 14 | a0001c0001t0001g0015 a0001c0001t0001g0023 a0001c0001t0001g0045 others(11): Show |
23 | HG00735.hp2 HG01109.hp1 HG01192.hp2 others(20): Show |
intron_variant | MODIFIER | c.59-383A>G | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 3/19 | chr19 | 55078616 | |||||||
| chr19:55078616 | AGAGGGGC others(141): Show |
G | 2 | a0001c0001t0001g0140 a0001c0001t0001g0142 |
2 | HG03516.hp1 HG06807.hp1 |
intron_variant | MODIFIER | c.59-383_59-236del | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 3/19 | chr19 | 55078616 | |||||||
| chr19:55078616 | AGAGGGGC others(215): Show |
A | 1 | a0001c0001t0001g0097 | 1 | HG00621.hp2 | intron_variant | MODIFIER | c.59-369_59-148del | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr19 | 55078616 | ||||||
| chr19:55078621 | G | T | 57 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 others(54): Show |
146 | HG00408.hp2 HG00423.hp2 HG00438.hp1 others(143): Show |
intron_variant | MODIFIER | c.59-378G>T | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 3/19 | chr19 | 55078621 | |||||||
| chr19:55078623 | C | T | 1 | a0002c0002t0001g0062 | 1 | HG01975.hp1 | intron_variant | MODIFIER | c.59-376C>T | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 3/19 | chr19 | 55078623 | |||||||
| chr19:55078624 | TG | T | 31 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0011 others(28): Show |
92 | HG00408.hp2 HG00438.hp1 HG00733.hp2 others(89): Show |
intron_variant | MODIFIER | c.59-369delG | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr19 | 55078624 | ||||||
| chr19:55078624 | TGGGGGGC others(142): Show |
T | 5 | a0001c0001t0001g0031 a0001c0001t0001g0092 a0001c0001t0001g0093 others(2): Show |
7 | HG02451.hp1 HG02630.hp1 HG02895.hp2 others(4): Show |
intron_variant | MODIFIER | c.59-369_59-221del | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr19 | 55078624 | ||||||
| chr19:55078630 | G | C | 4 | a0002c0002t0001g0138 a0003c0003t0001g0131 a0004c0004t0001g0086 others(1): Show |
4 | HG00741.hp1 HG03225.hp2 HG06807.hp2 others(1): Show |
intron_variant | MODIFIER | c.59-369G>C | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 3/19 | chr19 | 55078630 | |||||||
| chr19:55078630 | G | T | 23 | a0001c0001t0001g0005 a0001c0001t0001g0009 a0001c0001t0001g0012 others(20): Show |
49 | HG00423.hp2 HG00544.hp2 HG00597.hp1 others(46): Show |
intron_variant | MODIFIER | c.59-369G>T | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 3/19 | chr19 | 55078630 | |||||||
| chr19:55078630 | GCTGGACT others(30): Show |
G | 4 | a0002c0002t0001g0052 a0002c0002t0001g0060 a0003c0003t0001g0135 others(1): Show |
4 | HG02004.hp2 HG02257.hp1 HG03688.hp1 others(1): Show |
intron_variant | MODIFIER | c.59-295_59-259delCC others(35): Show |
EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr19 | 55078630 | ||||||
| chr19:55078630 | GCTGGACT others(215): Show |
G | 1 | a0008c0009t0001g0125 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.59-332_59-111del | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr19 | 55078630 | ||||||
| chr19:55078642 | G | A | 5 | a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0136 others(2): Show |
7 | HG01255.hp2 HG01346.hp2 HG01515.hp1 others(4): Show |
intron_variant | MODIFIER | c.59-357G>A | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 3/19 | chr19 | 55078642 | |||||||
| chr19:55078646 | A | T | 1 | a0002c0002t0001g0138 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.59-353A>T | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 3/19 | chr19 | 55078646 | |||||||
| chr19:55078648 | A | G | 8 | a0001c0001t0001g0015 a0001c0001t0001g0023 a0001c0001t0001g0080 others(5): Show |
15 | HG00735.hp2 HG01109.hp1 HG01192.hp2 others(12): Show |
intron_variant | MODIFIER | c.59-351A>G | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 3/19 | chr19 | 55078648 | |||||||
| chr19:55078649 | G | T | 1 | a0002c0002t0001g0138 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.59-350G>T | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 3/19 | chr19 | 55078649 | |||||||
| chr19:55078653 | A | G | 1 | a0002c0002t0001g0138 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.59-346A>G | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 3/19 | chr19 | 55078653 | |||||||
| chr19:55078653 | AGAGGGGC others(178): Show |
A | 4 | a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0136 others(1): Show |
6 | HG01255.hp2 HG01346.hp2 HG01515.hp1 others(3): Show |
intron_variant | MODIFIER | c.59-295_59-111del | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr19 | 55078653 | ||||||
| chr19:55078658 | G | T | 3 | a0001c0001t0001g0015 a0001c0001t0001g0123 a0006c0007t0001g0077 |
7 | HG00735.hp2 HG01109.hp1 HG01884.hp1 others(4): Show |
intron_variant | MODIFIER | c.59-341G>T | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 3/19 | chr19 | 55078658 | |||||||
| chr19:55078661 | TG | T | 27 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0011 others(24): Show |
88 | HG00408.hp2 HG00438.hp1 HG00733.hp2 others(85): Show |
intron_variant | MODIFIER | c.59-333delG | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr19 | 55078661 | ||||||
| chr19:55078667 | C | G | 15 | a0001c0001t0001g0006 a0001c0001t0001g0021 a0001c0001t0001g0030 others(12): Show |
31 | HG00438.hp2 HG00735.hp1 HG01109.hp2 others(28): Show |
intron_variant | MODIFIER | c.59-332C>G | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 3/19 | chr19 | 55078667 | |||||||
| chr19:55078667 | C | T | 24 | a0001c0001t0001g0005 a0001c0001t0001g0009 a0001c0001t0001g0012 others(21): Show |
57 | HG00423.hp2 HG00544.hp2 HG00597.hp1 others(54): Show |
intron_variant | MODIFIER | c.59-332C>T | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 3/19 | chr19 | 55078667 | |||||||
| chr19:55078667 | CCTGGACT others(215): Show |
C | 3 | a0001c0001t0001g0080 a0001c0008t0001g0078 a0006c0017t0001g0079 |
3 | HG02257.hp2 HG02818.hp2 NA21309.hp1 |
intron_variant | MODIFIER | c.59-321_59-100del | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr19 | 55078667 | ||||||
| chr19:55078678 | G | A | 4 | a0001c0001t0001g0087 a0001c0001t0001g0106 a0001c0001t0001g0112 others(1): Show |
4 | HG02165.hp1 HG02572.hp1 HG02922.hp1 others(1): Show |
intron_variant | MODIFIER | c.59-321G>A | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 3/19 | chr19 | 55078678 | |||||||
| chr19:55078679 | G | A | 50 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 others(47): Show |
141 | HG00408.hp2 HG00423.hp2 HG00438.hp1 others(138): Show |
intron_variant | MODIFIER | c.59-320G>A | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 3/19 | chr19 | 55078679 | |||||||
| chr19:55078682 | C | T | 4 | a0001c0001t0001g0087 a0001c0001t0001g0106 a0001c0001t0001g0112 others(1): Show |
4 | HG02165.hp1 HG02572.hp1 HG02922.hp1 others(1): Show |
intron_variant | MODIFIER | c.59-317C>T | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 3/19 | chr19 | 55078682 | |||||||
| chr19:55078683 | A | T | 4 | a0001c0001t0001g0087 a0001c0001t0001g0106 a0001c0001t0001g0112 others(1): Show |
4 | HG02165.hp1 HG02572.hp1 HG02922.hp1 others(1): Show |
intron_variant | MODIFIER | c.59-316A>T | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 3/19 | chr19 | 55078683 | |||||||
| chr19:55078685 | A | G | 2 | a0003c0003t0001g0135 a0007c0010t0001g0134 |
2 | HG02004.hp2 HG02257.hp1 |
intron_variant | MODIFIER | c.59-314A>G | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 3/19 | chr19 | 55078685 | |||||||
| chr19:55078690 | A | G | 10 | a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0072 others(7): Show |
12 | HG00741.hp1 HG02109.hp2 HG02145.hp2 others(9): Show |
intron_variant | MODIFIER | c.59-309A>G | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 3/19 | chr19 | 55078690 | |||||||
| chr19:55078690 | AGAGGGGC others(141): Show |
A | 13 | a0001c0001t0001g0005 a0001c0001t0001g0009 a0001c0001t0001g0012 others(10): Show |
34 | HG00423.hp2 HG00544.hp2 HG00597.hp1 others(31): Show |
intron_variant | MODIFIER | c.59-258_59-111del | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr19 | 55078690 | ||||||
| chr19:55078695 | G | GGCTGGGG others(67): Show |
2 | a0005c0005t0001g0020 a0009c0013t0001g0069 |
2 | HG02486.hp2 HG02897.hp2 |
intron_variant | MODIFIER | c.59-296_59-295insTC others(72): Show |
EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr19 | 55078695 | ||||||
| chr19:55078695 | G | T | 31 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0011 others(28): Show |
99 | HG00408.hp2 HG00438.hp1 HG00733.hp2 others(96): Show |
intron_variant | MODIFIER | c.59-304G>T | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 3/19 | chr19 | 55078695 | |||||||
| chr19:55078704 | C | G | 18 | a0001c0001t0001g0006 a0001c0001t0001g0021 a0001c0001t0001g0030 others(15): Show |
36 | HG00438.hp2 HG00735.hp1 HG00741.hp1 others(33): Show |
intron_variant | MODIFIER | c.59-295C>G | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 3/19 | chr19 | 55078704 | |||||||
| chr19:55078704 | C | T | 38 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0011 others(35): Show |
109 | HG00408.hp2 HG00438.hp1 HG00733.hp2 others(106): Show |
intron_variant | MODIFIER | c.59-295C>T | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 3/19 | chr19 | 55078704 | |||||||
| chr19:55078715 | G | A | 13 | a0001c0001t0001g0006 a0001c0001t0001g0021 a0001c0001t0001g0030 others(10): Show |
29 | HG00438.hp2 HG00735.hp1 HG01109.hp2 others(26): Show |
intron_variant | MODIFIER | c.59-284G>A | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 3/19 | chr19 | 55078715 | |||||||
| chr19:55078716 | G | A | 5 | a0001c0001t0001g0112 a0001c0001t0001g0118 a0001c0001t0001g0119 others(2): Show |
8 | HG02486.hp2 HG02723.hp2 HG02886.hp2 others(5): Show |
intron_variant | MODIFIER | c.59-283G>A | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 3/19 | chr19 | 55078716 | |||||||
| chr19:55078719 | C | T | 12 | a0001c0001t0001g0006 a0001c0001t0001g0021 a0001c0001t0001g0030 others(9): Show |
28 | HG00438.hp2 HG00735.hp1 HG01109.hp2 others(25): Show |
intron_variant | MODIFIER | c.59-280C>T | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 3/19 | chr19 | 55078719 | |||||||
| chr19:55078720 | A | T | 14 | a0001c0001t0001g0006 a0001c0001t0001g0021 a0001c0001t0001g0030 others(11): Show |
30 | HG00438.hp2 HG00735.hp1 HG01109.hp2 others(27): Show |
intron_variant | MODIFIER | c.59-279A>T | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 3/19 | chr19 | 55078720 | |||||||
| chr19:55078722 | A | G | 5 | a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0072 others(2): Show |
7 | HG02109.hp2 HG02145.hp2 HG02615.hp2 others(4): Show |
intron_variant | MODIFIER | c.59-277A>G | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 3/19 | chr19 | 55078722 | |||||||
| chr19:55078723 | G | T | 1 | a0010c0011t0001g0141 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.59-276G>T | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 3/19 | chr19 | 55078723 | |||||||
| chr19:55078727 | A | G | 26 | a0001c0001t0001g0006 a0001c0001t0001g0021 a0001c0001t0001g0030 others(23): Show |
59 | HG00438.hp2 HG00544.hp1 HG00609.hp1 others(56): Show |
intron_variant | MODIFIER | c.59-272A>G | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 3/19 | chr19 | 55078727 | |||||||
| chr19:55078732 | G | T | 6 | a0001c0001t0001g0112 a0001c0001t0001g0118 a0001c0001t0001g0119 others(3): Show |
6 | HG02486.hp2 HG02897.hp2 HG03195.hp1 others(3): Show |
intron_variant | MODIFIER | c.59-267G>T | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 3/19 | chr19 | 55078732 | |||||||
| chr19:55078735 | TG | T | 9 | a0001c0001t0001g0006 a0001c0001t0001g0021 a0001c0001t0001g0030 others(6): Show |
25 | HG00438.hp2 HG00735.hp1 HG01109.hp2 others(22): Show |
intron_variant | MODIFIER | c.59-259delG | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr19 | 55078735 | ||||||
| chr19:55078736 | G | GGGGGGCT others(29): Show |
1 | a0003c0003t0001g0007 | 1 | NA19011.hp1 | intron_variant | MODIFIER | c.59-259_59-258insGC others(34): Show |
EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr19 | 55078736 | ||||||
| chr19:55078741 | T | C | 14 | a0001c0001t0001g0006 a0001c0001t0001g0021 a0001c0001t0001g0030 others(11): Show |
32 | HG00438.hp2 HG00735.hp1 HG01109.hp2 others(29): Show |
intron_variant | MODIFIER | c.59-258T>C | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 3/19 | chr19 | 55078741 | |||||||
| chr19:55078741 | T | G | 16 | a0001c0001t0001g0106 a0002c0002t0001g0138 a0003c0003t0001g0007 others(13): Show |
33 | HG00544.hp1 HG00609.hp1 HG00621.hp1 others(30): Show |
intron_variant | MODIFIER | c.59-258T>G | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 3/19 | chr19 | 55078741 | |||||||
| chr19:55078741 | TCTGGACT others(30): Show |
T | 1 | a0001c0001t0001g0112 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.59-235_59-199delGG others(35): Show |
EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr19 | 55078741 | ||||||
| chr19:55078741 | TCTGGACT others(104): Show |
T | 4 | a0001c0001t0001g0013 a0001c0001t0001g0071 a0001c0001t0001g0118 others(1): Show |
8 | HG00733.hp2 HG01168.hp1 HG01346.hp1 others(5): Show |
intron_variant | MODIFIER | c.59-235_59-125del | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr19 | 55078741 | ||||||
| chr19:55078752 | G | A | 6 | a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0072 others(3): Show |
8 | HG02109.hp2 HG02145.hp2 HG02572.hp1 others(5): Show |
intron_variant | MODIFIER | c.59-247G>A | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 3/19 | chr19 | 55078752 | |||||||
| chr19:55078753 | G | A | 41 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(38): Show |
121 | HG00408.hp2 HG00438.hp1 HG00438.hp2 others(118): Show |
intron_variant | MODIFIER | c.59-246G>A | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 3/19 | chr19 | 55078753 | |||||||
| chr19:55078756 | C | T | 6 | a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0072 others(3): Show |
8 | HG02109.hp2 HG02145.hp2 HG02572.hp1 others(5): Show |
intron_variant | MODIFIER | c.59-243C>T | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 3/19 | chr19 | 55078756 | |||||||
| chr19:55078757 | A | T | 6 | a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0072 others(3): Show |
8 | HG02109.hp2 HG02145.hp2 HG02572.hp1 others(5): Show |
intron_variant | MODIFIER | c.59-242A>T | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 3/19 | chr19 | 55078757 | |||||||
| chr19:55078757 | AGAGGGAG others(67): Show |
A | 26 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0011 others(23): Show |
83 | HG00408.hp2 HG00438.hp1 HG01168.hp2 others(80): Show |
intron_variant | MODIFIER | c.59-221_59-148delGC others(72): Show |
EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr19 | 55078757 | ||||||
| chr19:55078759 | A | G | 1 | a0005c0005t0001g0020 | 3 | HG02723.hp2 HG02886.hp2 HG03195.hp2 |
intron_variant | MODIFIER | c.59-240A>G | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 3/19 | chr19 | 55078759 | |||||||
| chr19:55078764 | G | A | 27 | a0001c0001t0001g0006 a0001c0001t0001g0021 a0001c0001t0001g0030 others(24): Show |
61 | HG00438.hp2 HG00544.hp1 HG00609.hp1 others(58): Show |
intron_variant | MODIFIER | c.59-235G>A | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 3/19 | chr19 | 55078764 | |||||||
| chr19:55078769 | G | T | 11 | a0001c0001t0001g0006 a0001c0001t0001g0021 a0001c0001t0001g0030 others(8): Show |
29 | HG00438.hp2 HG00735.hp1 HG01109.hp2 others(26): Show |
intron_variant | MODIFIER | c.59-230G>T | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 3/19 | chr19 | 55078769 | |||||||
| chr19:55078778 | G | C | 3 | a0001c0001t0001g0106 a0003c0003t0001g0007 a0003c0003t0001g0131 |
3 | HG00741.hp1 HG02165.hp1 NA19011.hp1 |
intron_variant | MODIFIER | c.59-221G>C | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 3/19 | chr19 | 55078778 | |||||||
| chr19:55078778 | G | T | 17 | a0001c0001t0001g0006 a0001c0001t0001g0021 a0001c0001t0001g0030 others(14): Show |
38 | HG00438.hp2 HG00735.hp1 HG01109.hp2 others(35): Show |
intron_variant | MODIFIER | c.59-221G>T | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 3/19 | chr19 | 55078778 | |||||||
| chr19:55078778 | GCTGGACT others(67): Show |
G | 7 | a0001c0001t0001g0087 a0002c0002t0001g0058 a0004c0004t0001g0010 others(4): Show |
13 | HG01123.hp2 HG01167.hp2 HG01981.hp2 others(10): Show |
intron_variant | MODIFIER | c.59-184_59-111delCC others(72): Show |
EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr19 | 55078778 | ||||||
| chr19:55078789 | G | A | 5 | a0001c0001t0001g0140 a0001c0001t0001g0142 a0001c0001t0002g0139 others(2): Show |
5 | HG02572.hp1 HG03225.hp2 HG03516.hp1 others(2): Show |
intron_variant | MODIFIER | c.59-210G>A | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 3/19 | chr19 | 55078789 | |||||||
| chr19:55078790 | G | A | 2 | a0005c0005t0001g0020 a0009c0013t0001g0069 |
5 | HG02486.hp2 HG02723.hp2 HG02886.hp2 others(2): Show |
intron_variant | MODIFIER | c.59-209G>A | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 3/19 | chr19 | 55078790 | |||||||
| chr19:55078792 | TCAGAGGG others(29): Show |
T | 1 | a0001c0001t0002g0139 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.59-206_59-171delCA others(34): Show |
EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 3/19 | chr19 | 55078792 | |||||||
| chr19:55078793 | C | T | 4 | a0001c0001t0001g0140 a0001c0001t0001g0142 a0002c0002t0001g0138 others(1): Show |
4 | HG03225.hp2 HG03516.hp1 HG06807.hp1 others(1): Show |
intron_variant | MODIFIER | c.59-206C>T | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 3/19 | chr19 | 55078793 | |||||||
| chr19:55078794 | A | T | 4 | a0001c0001t0001g0140 a0001c0001t0001g0142 a0002c0002t0001g0138 others(1): Show |
4 | HG03225.hp2 HG03516.hp1 HG06807.hp1 others(1): Show |
intron_variant | MODIFIER | c.59-205A>T | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 3/19 | chr19 | 55078794 | |||||||
| chr19:55078796 | A | G | 6 | a0001c0001t0001g0015 a0001c0001t0001g0023 a0001c0001t0001g0123 others(3): Show |
12 | HG00735.hp2 HG01109.hp1 HG01192.hp2 others(9): Show |
intron_variant | MODIFIER | c.59-203A>G | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 3/19 | chr19 | 55078796 | |||||||
| chr19:55078801 | A | G | 6 | a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0072 others(3): Show |
8 | HG02109.hp2 HG02145.hp2 HG02486.hp2 others(5): Show |
intron_variant | MODIFIER | c.59-198A>G | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 3/19 | chr19 | 55078801 | |||||||
| chr19:55078806 | G | T | 1 | a0005c0005t0001g0020 | 3 | HG02723.hp2 HG02886.hp2 HG03195.hp2 |
intron_variant | MODIFIER | c.59-193G>T | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 3/19 | chr19 | 55078806 | |||||||
| chr19:55078809 | TG | T | 5 | a0001c0001t0001g0031 a0001c0001t0001g0092 a0001c0001t0001g0093 others(2): Show |
7 | HG02451.hp1 HG02630.hp1 HG02895.hp2 others(4): Show |
intron_variant | MODIFIER | c.59-185delG | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr19 | 55078809 | ||||||
| chr19:55078815 | C | G | 9 | a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0072 others(6): Show |
11 | HG02109.hp2 HG02145.hp2 HG02486.hp2 others(8): Show |
intron_variant | MODIFIER | c.59-184C>G | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 3/19 | chr19 | 55078815 | |||||||
| chr19:55078815 | C | T | 13 | a0001c0001t0001g0006 a0001c0001t0001g0021 a0001c0001t0001g0030 others(10): Show |
31 | HG00438.hp2 HG00735.hp1 HG01109.hp2 others(28): Show |
intron_variant | MODIFIER | c.59-184C>T | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 3/19 | chr19 | 55078815 | |||||||
| chr19:55078815 | CCTGGACT others(67): Show |
C | 4 | a0001c0001t0001g0015 a0001c0001t0001g0023 a0001c0001t0001g0123 others(1): Show |
11 | HG00735.hp2 HG01109.hp1 HG01192.hp2 others(8): Show |
intron_variant | MODIFIER | c.59-173_59-100delGG others(72): Show |
EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr19 | 55078815 | ||||||
| chr19:55078826 | G | A | 12 | a0001c0001t0001g0106 a0001c0001t0001g0140 a0001c0001t0001g0142 others(9): Show |
12 | HG00741.hp1 HG02004.hp2 HG02165.hp1 others(9): Show |
intron_variant | MODIFIER | c.59-173G>A | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 3/19 | chr19 | 55078826 | |||||||
| chr19:55078826 | G | GGGTCAGA others(30): Show |
12 | a0003c0003t0001g0007 a0003c0003t0001g0016 a0003c0003t0001g0034 others(9): Show |
26 | HG00544.hp1 HG00609.hp1 HG00621.hp1 others(23): Show |
intron_variant | MODIFIER | c.59-170_59-169insCA others(35): Show |
EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr19 | 55078826 | ||||||
| chr19:55078826 | G | GGGTTTGA others(67): Show |
2 | a0002c0002t0001g0002 a0002c0002t0001g0004 |
2 | HG02723.hp1 NA18989.hp1 |
intron_variant | MODIFIER | c.59-131_59-58dupAGA others(71): Show |
EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr19 | 55078826 | ||||||
| chr19:55078826 | G | GGGTTTGA others(141): Show |
2 | a0002c0002t0001g0004 a0002c0002t0001g0055 |
3 | HG02145.hp1 HG02970.hp2 HG03098.hp2 |
intron_variant | MODIFIER | c.59-74_59-73insGCTG others(144): Show |
EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr19 | 55078826 | ||||||
| chr19:55078827 | G | A | 15 | a0001c0001t0001g0006 a0001c0001t0001g0021 a0001c0001t0001g0030 others(12): Show |
33 | HG00438.hp2 HG00735.hp1 HG01109.hp2 others(30): Show |
intron_variant | MODIFIER | c.59-172G>A | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 3/19 | chr19 | 55078827 | |||||||
| chr19:55078830 | T | C | 21 | a0001c0001t0001g0006 a0001c0001t0001g0021 a0001c0001t0001g0030 others(18): Show |
43 | HG00438.hp2 HG00735.hp1 HG01109.hp2 others(40): Show |
intron_variant | MODIFIER | c.59-169T>C | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 3/19 | chr19 | 55078830 | |||||||
| chr19:55078831 | T | A | 21 | a0001c0001t0001g0006 a0001c0001t0001g0021 a0001c0001t0001g0030 others(18): Show |
43 | HG00438.hp2 HG00735.hp1 HG01109.hp2 others(40): Show |
intron_variant | MODIFIER | c.59-168T>A | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 3/19 | chr19 | 55078831 | |||||||
| chr19:55078833 | A | G | 4 | a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0072 others(1): Show |
6 | HG02109.hp2 HG02145.hp2 HG02615.hp2 others(3): Show |
intron_variant | MODIFIER | c.59-166A>G | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 3/19 | chr19 | 55078833 | |||||||
| chr19:55078836 | G | T | 1 | a0001c0001t0002g0139 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.59-163G>T | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 3/19 | chr19 | 55078836 | |||||||
| chr19:55078838 | G | A | 48 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(45): Show |
127 | HG00408.hp2 HG00438.hp1 HG00438.hp2 others(124): Show |
intron_variant | MODIFIER | c.59-161G>A | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 3/19 | chr19 | 55078838 | |||||||
| chr19:55078838 | G | GGAGGGGC others(178): Show |
1 | a0002c0002t0001g0018 | 1 | HG01074.hp1 | intron_variant | MODIFIER | c.59-58_59-57insAGAG others(181): Show |
EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr19 | 55078838 | ||||||
| chr19:55078838 | GGAGGGGC others(30): Show |
G | 2 | a0003c0003t0001g0135 a0007c0010t0001g0134 |
2 | HG02004.hp2 HG02257.hp1 |
intron_variant | MODIFIER | c.59-147_59-111delCC others(35): Show |
EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr19 | 55078838 | ||||||
| chr19:55078843 | G | T | 55 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 others(52): Show |
151 | HG00408.hp2 HG00423.hp2 HG00438.hp1 others(148): Show |
intron_variant | MODIFIER | c.59-156G>T | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 3/19 | chr19 | 55078843 | |||||||
| chr19:55078852 | C | G | 11 | a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0136 others(8): Show |
13 | HG01255.hp2 HG01346.hp2 HG01515.hp1 others(10): Show |
intron_variant | MODIFIER | c.59-147C>G | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 3/19 | chr19 | 55078852 | |||||||
| chr19:55078852 | C | T | 57 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 others(54): Show |
156 | HG00408.hp2 HG00423.hp2 HG00438.hp1 others(153): Show |
intron_variant | MODIFIER | c.59-147C>T | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 3/19 | chr19 | 55078852 | |||||||
| chr19:55078863 | G | A | 10 | a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0072 others(7): Show |
12 | HG02109.hp2 HG02145.hp2 HG02572.hp1 others(9): Show |
intron_variant | MODIFIER | c.59-136G>A | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 3/19 | chr19 | 55078863 | |||||||
| chr19:55078867 | C | T | 10 | a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0072 others(7): Show |
12 | HG02109.hp2 HG02145.hp2 HG02572.hp1 others(9): Show |
intron_variant | MODIFIER | c.59-132C>T | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 3/19 | chr19 | 55078867 | |||||||
| chr19:55078868 | A | T | 10 | a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0072 others(7): Show |
12 | HG02109.hp2 HG02145.hp2 HG02572.hp1 others(9): Show |
intron_variant | MODIFIER | c.59-131A>T | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 3/19 | chr19 | 55078868 | |||||||
| chr19:55078870 | A | G | 56 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 others(53): Show |
154 | HG00408.hp2 HG00423.hp2 HG00438.hp1 others(151): Show |
intron_variant | MODIFIER | c.59-129A>G | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 3/19 | chr19 | 55078870 | |||||||
| chr19:55078875 | A | G | 7 | a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0072 others(4): Show |
12 | HG02109.hp2 HG02145.hp2 HG02486.hp2 others(9): Show |
intron_variant | MODIFIER | c.59-124A>G | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 3/19 | chr19 | 55078875 | |||||||
| chr19:55078900 | A | G | 2 | a0001c0008t0001g0124 a0004c0004t0001g0086 |
2 | HG02809.hp1 HG03225.hp2 |
intron_variant | MODIFIER | c.59-99A>G | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 3/19 | chr19 | 55078900 | |||||||
| chr19:55078904 | T | C | 2 | a0001c0008t0001g0124 a0004c0004t0001g0086 |
2 | HG02809.hp1 HG03225.hp2 |
intron_variant | MODIFIER | c.59-95T>C | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 3/19 | chr19 | 55078904 | |||||||
| chr19:55078908 | G | T | 2 | a0001c0008t0001g0124 a0004c0004t0001g0086 |
2 | HG02809.hp1 HG03225.hp2 |
intron_variant | MODIFIER | c.59-91G>T | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 3/19 | chr19 | 55078908 | |||||||
| chr19:55078912 | G | A | 1 | a0010c0011t0001g0141 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.59-87G>A | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 3/19 | chr19 | 55078912 | |||||||
| chr19:55078926 | C | G | 1 | a0002c0002t0001g0138 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.59-73C>G | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 3/19 | chr19 | 55078926 | |||||||
| chr19:55078926 | C | T | 9 | a0001c0001t0001g0015 a0001c0001t0001g0023 a0001c0001t0001g0080 others(6): Show |
16 | HG00735.hp2 HG01109.hp1 HG01192.hp2 others(13): Show |
intron_variant | MODIFIER | c.59-73C>T | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 3/19 | chr19 | 55078926 | |||||||
| chr19:55078964 | G | A | 1 | a0002c0002t0001g0024 | 3 | NA18948.hp2 NA18982.hp1 NA18983.hp2 |
intron_variant | MODIFIER | c.59-35G>A | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 3/19 | chr19 | 55078964 | |||||||
| chr19:55078975 | C | T | 1 | a0001c0001t0001g0093 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.59-24C>T | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 3/19 | chr19 | 55078975 | |||||||
| chr19:55079194 | T | G | 1 | a0002c0002t0001g0055 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.117+137T>G | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 4/19 | chr19 | 55079194 | |||||||
| chr19:55079226 | C | T | 40 | a0001c0001t0001g0015 a0001c0001t0001g0023 a0001c0001t0001g0039 others(37): Show |
66 | HG00544.hp1 HG00609.hp1 HG00621.hp1 others(63): Show |
intron_variant | MODIFIER | c.117+169C>T | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 4/19 | chr19 | 55079226 | |||||||
| chr19:55079231 | G | A | 94 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 others(91): Show |
220 | HG00408.hp2 HG00423.hp2 HG00438.hp1 others(217): Show |
intron_variant | MODIFIER | c.117+174G>A | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 4/19 | chr19 | 55079231 | |||||||
| chr19:55079303 | G | A | 29 | a0001c0001t0001g0015 a0001c0001t0001g0023 a0001c0001t0001g0039 others(26): Show |
53 | HG00544.hp1 HG00609.hp1 HG00621.hp1 others(50): Show |
intron_variant | MODIFIER | c.117+246G>A | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 4/19 | chr19 | 55079303 | |||||||
| chr19:55079399 | T | C | 5 | a0001c0001t0001g0005 a0001c0001t0001g0096 a0001c0001t0001g0113 others(2): Show |
13 | HG00741.hp2 HG01361.hp2 HG01934.hp2 others(10): Show |
intron_variant | MODIFIER | c.118-291T>C | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 4/19 | chr19 | 55079399 | |||||||
| chr19:55079403 | A | G | 147 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 others(144): Show |
337 | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(334): Show |
intron_variant | MODIFIER | c.118-287A>G | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 4/19 | chr19 | 55079403 | |||||||
| chr19:55079440 | A | G | 19 | a0001c0001t0002g0139 a0002c0002t0001g0059 a0002c0002t0001g0062 others(16): Show |
34 | HG00544.hp1 HG00609.hp1 HG00621.hp1 others(31): Show |
intron_variant | MODIFIER | c.118-250A>G | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 4/19 | chr19 | 55079440 | |||||||
| chr19:55079462 | G | T | 1 | a0002c0002t0001g0050 | 1 | HG02040.hp1 | intron_variant | MODIFIER | c.118-228G>T | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 4/19 | chr19 | 55079462 | |||||||
| chr19:55079553 | T | G | 3 | a0002c0002t0001g0138 a0005c0005t0001g0020 a0009c0013t0001g0069 |
6 | HG02486.hp2 HG02723.hp2 HG02886.hp2 others(3): Show |
intron_variant | MODIFIER | c.118-137T>G | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 4/19 | chr19 | 55079553 | |||||||
| chr19:55079857 | G | A | 1 | a0008c0009t0001g0125 | 1 | HG02258.hp2 | splice_region_variant&intron_variant | LOW | c.279+6G>A | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 5/19 | chr19 | 55079857 | |||||||
| chr19:55079862 | G | A | 1 | a0003c0003t0001g0129 | 1 | HG01074.hp2 | intron_variant | MODIFIER | c.279+11G>A | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 5/19 | chr19 | 55079862 | |||||||
| chr19:55079870 | G | T | 1 | a0001c0001t0002g0139 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.279+19G>T | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 5/19 | chr19 | 55079870 | |||||||
| chr19:55079947 | A | G | 1 | a0003c0003t0001g0131 | 1 | HG00741.hp1 | intron_variant | MODIFIER | c.279+96A>G | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 5/19 | chr19 | 55079947 | |||||||
| chr19:55079959 | G | A | 1 | a0002c0002t0001g0111 | 1 | HG04115.hp2 | intron_variant | MODIFIER | c.279+108G>A | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 5/19 | chr19 | 55079959 | |||||||
| chr19:55080024 | C | T | 15 | a0003c0003t0001g0007 a0003c0003t0001g0016 a0003c0003t0001g0034 others(12): Show |
30 | HG00544.hp1 HG00609.hp1 HG00621.hp1 others(27): Show |
intron_variant | MODIFIER | c.280-105C>T | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 5/19 | chr19 | 55080024 | |||||||
| chr19:55080322 | G | A | 1 | a0001c0001t0001g0073 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.429+44G>A | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 6/19 | chr19 | 55080322 | |||||||
| chr19:55080353 | G | C | 6 | a0004c0004t0001g0010 a0004c0004t0001g0084 a0004c0004t0001g0085 others(3): Show |
12 | HG01123.hp2 HG01167.hp2 HG01981.hp2 others(9): Show |
intron_variant | MODIFIER | c.429+75G>C | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 6/19 | chr19 | 55080353 | |||||||
| chr19:55080364 | G | A | 1 | a0008c0009t0001g0125 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.429+86G>A | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 6/19 | chr19 | 55080364 | |||||||
| chr19:55080425 | G | A | 2 | a0006c0007t0001g0077 a0006c0007t0001g0081 |
2 | HG01884.hp1 HG03195.hp1 |
intron_variant | MODIFIER | c.429+147G>A | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 6/19 | chr19 | 55080425 | |||||||
| chr19:55080440 | G | A | 1 | a0001c0001t0001g0121 | 1 | HG00544.hp2 | intron_variant | MODIFIER | c.429+162G>A | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 6/19 | chr19 | 55080440 | |||||||
| chr19:55080575 | A | G | 1 | a0008c0009t0001g0125 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.430-197A>G | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 6/19 | chr19 | 55080575 | |||||||
| chr19:55080702 | G | A | 4 | a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0136 others(1): Show |
6 | HG01255.hp2 HG01346.hp2 HG01515.hp1 others(3): Show |
intron_variant | MODIFIER | c.430-70G>A | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 6/19 | chr19 | 55080702 | |||||||
| chr19:55080734 | CGGCGTGG others(3): Show |
C | 2 | a0003c0003t0001g0135 a0007c0010t0001g0134 |
2 | HG02004.hp2 HG02257.hp1 |
intron_variant | MODIFIER | c.430-30_430-21delGG others(8): Show |
EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 6/19 | INFO_REALIGN_3_PRIME | chr19 | 55080734 | ||||||
| chr19:55081025 | C | G | 1 | a0001c0001t0001g0103 | 1 | HG03017.hp2 | intron_variant | MODIFIER | c.512+171C>G | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 7/19 | chr19 | 55081025 | |||||||
| chr19:55081602 | T | G | 2 | a0003c0003t0001g0130 a0003c0003t0001g0133 |
2 | HG01175.hp1 HG04204.hp1 |
intron_variant | MODIFIER | c.774+110T>G | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 8/19 | chr19 | 55081602 | |||||||
| chr19:55081683 | G | A | 2 | a0001c0008t0001g0078 a0006c0017t0001g0079 |
2 | HG02257.hp2 HG02818.hp2 |
intron_variant | MODIFIER | c.775-90G>A | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 8/19 | chr19 | 55081683 | |||||||
| chr19:55081691 | T | A | 1 | a0002c0002t0001g0051 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.775-82T>A | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 8/19 | chr19 | 55081691 | |||||||
| chr19:55082049 | C | T | 20 | a0003c0003t0001g0007 a0003c0003t0001g0016 a0003c0003t0001g0034 others(17): Show |
41 | HG00544.hp1 HG00609.hp1 HG00621.hp1 others(38): Show |
intron_variant | MODIFIER | c.902-43C>T | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 9/19 | chr19 | 55082049 | |||||||
| chr19:55082059 | G | T | 1 | a0006c0017t0001g0079 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.902-33G>T | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 9/19 | chr19 | 55082059 | |||||||
| chr19:55082073 | G | C | 1 | a0002c0002t0001g0056 | 1 | NA18947.hp2 | intron_variant | MODIFIER | c.902-19G>C | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 9/19 | chr19 | 55082073 | |||||||
| chr19:55082186 | G | A | 1 | a0002c0002t0001g0049 | 1 | HG02080.hp2 | splice_region_variant&intron_variant | LOW | c.990+6G>A | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 10/19 | chr19 | 55082186 | |||||||
| chr19:55082192 | C | T | 1 | a0008c0009t0001g0125 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.990+12C>T | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 10/19 | chr19 | 55082192 | |||||||
| chr19:55082627 | G | A | 1 | a0008c0009t0001g0125 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.1214+25G>A | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 12/19 | chr19 | 55082627 | |||||||
| chr19:55082700 | A | G | 1 | a0008c0009t0001g0125 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.1214+98A>G | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 12/19 | chr19 | 55082700 | |||||||
| chr19:55082711 | G | A | 43 | a0001c0001t0001g0015 a0001c0001t0001g0023 a0001c0001t0001g0039 others(40): Show |
73 | HG00280.hp1 HG00558.hp1 HG00558.hp2 others(70): Show |
intron_variant | MODIFIER | c.1214+109G>A | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 12/19 | chr19 | 55082711 | |||||||
| chr19:55082741 | G | A | 1 | a0004c0004t0001g0084 | 1 | HG02572.hp2 | intron_variant | MODIFIER | c.1214+139G>A | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 12/19 | chr19 | 55082741 | |||||||
| chr19:55082861 | G | A | 1 | a0003c0003t0001g0127 | 1 | HG01517.hp2 | intron_variant | MODIFIER | c.1214+259G>A | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 12/19 | chr19 | 55082861 | |||||||
| chr19:55082887 | G | T | 1 | a0001c0001t0002g0139 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.1214+285G>T | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 12/19 | chr19 | 55082887 | |||||||
| chr19:55082888 | G | A | 1 | a0008c0009t0001g0125 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.1214+286G>A | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 12/19 | chr19 | 55082888 | |||||||
| chr19:55082910 | T | G | 1 | a0002c0002t0001g0067 | 1 | HG02602.hp2 | intron_variant | MODIFIER | c.1214+308T>G | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 12/19 | chr19 | 55082910 | |||||||
| chr19:55082924 | T | C | 1 | a0001c0001t0001g0123 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.1214+322T>C | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 12/19 | chr19 | 55082924 | |||||||
| chr19:55082956 | C | T | 3 | a0001c0001t0001g0015 a0001c0001t0001g0023 a0001c0001t0001g0123 |
10 | HG00735.hp2 HG01109.hp1 HG01192.hp2 others(7): Show |
intron_variant | MODIFIER | c.1214+354C>T | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 12/19 | chr19 | 55082956 | |||||||
| chr19:55082969 | C | G | 1 | a0008c0009t0001g0125 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.1214+367C>G | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 12/19 | chr19 | 55082969 | |||||||
| chr19:55082980 | G | A | 1 | a0008c0009t0001g0125 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.1214+378G>A | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 12/19 | chr19 | 55082980 | |||||||
| chr19:55082988 | T | A | 1 | a0001c0001t0001g0102 | 1 | HG02135.hp2 | intron_variant | MODIFIER | c.1214+386T>A | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 12/19 | chr19 | 55082988 | |||||||
| chr19:55083560 | G | C | 3 | a0002c0002t0001g0138 a0005c0005t0001g0020 a0009c0013t0001g0069 |
6 | HG02486.hp2 HG02723.hp2 HG02886.hp2 others(3): Show |
intron_variant | MODIFIER | c.1356+41G>C | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 13/19 | chr19 | 55083560 | |||||||
| chr19:55083566 | G | A | 1 | a0001c0001t0002g0139 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.1356+47G>A | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 13/19 | chr19 | 55083566 | |||||||
| chr19:55083568 | G | T | 1 | a0001c0012t0001g0137 | 1 | HG01255.hp2 | intron_variant | MODIFIER | c.1357-48G>T | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 13/19 | chr19 | 55083568 | |||||||
| chr19:55083698 | G | GGGCTCCC others(3): Show |
1 | a0001c0001t0001g0046 | 2 | HG03491.hp1 HG03492.hp2 |
intron_variant | MODIFIER | c.1385+56_1385+65dup others(10): Show |
EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 14/19 | INFO_REALIGN_3_PRIME | chr19 | 55083698 | ||||||
| chr19:55083803 | A | G | 1 | a0002c0002t0001g0054 | 1 | NA19000.hp1 | intron_variant | MODIFIER | c.1385+159A>G | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 14/19 | chr19 | 55083803 | |||||||
| chr19:55083883 | T | C | 4 | a0002c0002t0001g0138 a0005c0005t0001g0020 a0008c0009t0001g0125 others(1): Show |
7 | HG02258.hp2 HG02486.hp2 HG02723.hp2 others(4): Show |
intron_variant | MODIFIER | c.1385+239T>C | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 14/19 | chr19 | 55083883 | |||||||
| chr19:55083936 | C | T | 2 | a0002c0002t0001g0018 a0002c0002t0001g0061 |
5 | HG00609.hp2 HG01074.hp1 NA18969.hp2 others(2): Show |
intron_variant | MODIFIER | c.1385+292C>T | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 14/19 | chr19 | 55083936 | |||||||
| chr19:55084113 | G | T | 1 | a0001c0001t0001g0094 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.1385+469G>T | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 14/19 | chr19 | 55084113 | |||||||
| chr19:55084248 | T | C | 3 | a0001c0001t0001g0140 a0001c0001t0001g0142 a0010c0011t0001g0141 |
3 | HG03516.hp1 HG06807.hp1 HG06807.hp2 |
intron_variant | MODIFIER | c.1385+604T>C | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 14/19 | chr19 | 55084248 | |||||||
| chr19:55084266 | G | A | 3 | a0001c0001t0001g0015 a0001c0001t0001g0023 a0001c0001t0001g0123 |
10 | HG00735.hp2 HG01109.hp1 HG01192.hp2 others(7): Show |
intron_variant | MODIFIER | c.1385+622G>A | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 14/19 | chr19 | 55084266 | |||||||
| chr19:55084271 | C | T | 2 | a0001c0001t0001g0089 a0003c0003t0001g0126 |
2 | HG03579.hp2 NA20300.hp1 |
intron_variant | MODIFIER | c.1385+627C>T | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 14/19 | chr19 | 55084271 | |||||||
| chr19:55084293 | G | A | 1 | a0004c0004t0001g0084 | 1 | HG02572.hp2 | intron_variant | MODIFIER | c.1385+649G>A | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 14/19 | chr19 | 55084293 | |||||||
| chr19:55084296 | T | C | 1 | a0002c0002t0001g0066 | 1 | HG03927.hp2 | intron_variant | MODIFIER | c.1385+652T>C | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 14/19 | chr19 | 55084296 | |||||||
| chr19:55084371 | T | C | 1 | a0001c0001t0001g0116 | 1 | HG02071.hp1 | intron_variant | MODIFIER | c.1385+727T>C | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 14/19 | chr19 | 55084371 | |||||||
| chr19:55084600 | G | A | 1 | a0002c0002t0001g0002 | 1 | NA18985.hp1 | intron_variant | MODIFIER | c.1385+956G>A | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 14/19 | chr19 | 55084600 | |||||||
| chr19:55084678 | GGGTCAGA others(7): Show |
G | 1 | a0001c0001t0001g0093 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.1385+1035_1385+104 others(18): Show |
EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 14/19 | chr19 | 55084678 | |||||||
| chr19:55084687 | C | T | 1 | a0008c0009t0001g0125 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.1385+1043C>T | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 14/19 | chr19 | 55084687 | |||||||
| chr19:55084811 | G | C | 1 | a0001c0001t0002g0139 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.1386-1030G>C | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 14/19 | chr19 | 55084811 | |||||||
| chr19:55084865 | T | C | 5 | a0001c0001t0002g0139 a0002c0002t0001g0138 a0005c0005t0001g0020 others(2): Show |
8 | HG02258.hp2 HG02486.hp2 HG02572.hp1 others(5): Show |
intron_variant | MODIFIER | c.1386-976T>C | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 14/19 | chr19 | 55084865 | |||||||
| chr19:55084915 | C | T | 1 | a0001c0001t0001g0092 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.1386-926C>T | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 14/19 | chr19 | 55084915 | |||||||
| chr19:55085094 | A | T | 1 | a0004c0004t0001g0086 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.1386-747A>T | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 14/19 | chr19 | 55085094 | |||||||
| chr19:55085128 | G | A | 1 | a0008c0009t0001g0125 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.1386-713G>A | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 14/19 | chr19 | 55085128 | |||||||
| chr19:55085180 | G | GT | 4 | a0002c0002t0001g0138 a0005c0005t0001g0020 a0008c0009t0001g0125 others(1): Show |
7 | HG02258.hp2 HG02486.hp2 HG02723.hp2 others(4): Show |
intron_variant | MODIFIER | c.1386-655dupT | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 14/19 | INFO_REALIGN_3_PRIME | chr19 | 55085180 | ||||||
| chr19:55085444 | C | T | 5 | a0001c0001t0001g0011 a0001c0001t0001g0029 a0001c0001t0001g0070 others(2): Show |
12 | HG01891.hp1 HG02647.hp1 HG02717.hp2 others(9): Show |
intron_variant | MODIFIER | c.1386-397C>T | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 14/19 | chr19 | 55085444 | |||||||
| chr19:55085456 | C | T | 1 | a0002c0002t0001g0058 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.1386-385C>T | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 14/19 | chr19 | 55085456 | |||||||
| chr19:55085606 | A | T | 1 | a0003c0003t0001g0143 | 1 | NA18997.hp1 | intron_variant | MODIFIER | c.1386-235A>T | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 14/19 | chr19 | 55085606 | |||||||
| chr19:55085658 | A | G | 4 | a0002c0002t0001g0138 a0005c0005t0001g0020 a0008c0009t0001g0125 others(1): Show |
7 | HG02258.hp2 HG02486.hp2 HG02723.hp2 others(4): Show |
intron_variant | MODIFIER | c.1386-183A>G | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 14/19 | chr19 | 55085658 | |||||||
| chr19:55085727 | C | T | 1 | a0008c0009t0001g0125 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.1386-114C>T | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 14/19 | chr19 | 55085727 | |||||||
| chr19:55085810 | C | G | 2 | a0001c0001t0001g0009 a0001c0001t0001g0038 |
9 | HG01243.hp2 HG01884.hp2 HG01891.hp2 others(6): Show |
intron_variant | MODIFIER | c.1386-31C>G | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 14/19 | chr19 | 55085810 | |||||||
| chr19:55085833 | C | T | 1 | a0001c0001t0001g0142 | 1 | HG06807.hp1 | splice_region_variant&intron_variant | LOW | c.1386-8C>T | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 14/19 | chr19 | 55085833 | |||||||
| chr19:55086001 | G | C | 65 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 others(62): Show |
169 | HG00408.hp2 HG00423.hp2 HG00438.hp1 others(166): Show |
intron_variant | MODIFIER | c.1518+28G>C | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 15/19 | chr19 | 55086001 | |||||||
| chr19:55086531 | G | T | 1 | a0010c0011t0001g0141 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.1777+13G>T | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 17/19 | chr19 | 55086531 | |||||||
| chr19:55086632 | A | C | 1 | a0009c0013t0001g0069 | 1 | HG02486.hp2 | intron_variant | MODIFIER | c.1778-82A>C | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 17/19 | chr19 | 55086632 | |||||||
| chr19:55086635 | G | GC | 50 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 others(47): Show |
149 | HG00408.hp2 HG00423.hp2 HG00438.hp1 others(146): Show |
intron_variant | MODIFIER | c.1778-72dupC | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 17/19 | INFO_REALIGN_3_PRIME | chr19 | 55086635 | ||||||
| chr19:55086635 | G | GCC | 14 | a0001c0001t0001g0032 a0001c0001t0001g0039 a0001c0001t0001g0040 others(11): Show |
19 | HG01978.hp2 HG02109.hp2 HG02145.hp2 others(16): Show |
intron_variant | MODIFIER | c.1778-73_1778-72dup others(2): Show |
EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 17/19 | INFO_REALIGN_3_PRIME | chr19 | 55086635 | ||||||
| chr19:55086901 | G | A | 3 | a0002c0002t0001g0024 a0002c0002t0001g0025 a0002c0002t0001g0054 |
7 | HG00558.hp2 HG02027.hp2 NA18944.hp1 others(4): Show |
intron_variant | MODIFIER | c.1952+13G>A | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 18/19 | chr19 | 55086901 | |||||||
| chr19:55087128 | G | C | 1 | a0009c0013t0001g0069 | 1 | HG02486.hp2 | intron_variant | MODIFIER | c.1953-175G>C | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 18/19 | chr19 | 55087128 | |||||||
| chr19:55087254 | T | G | 1 | a0003c0003t0001g0143 | 1 | NA18997.hp1 | intron_variant | MODIFIER | c.1953-49T>G | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 18/19 | chr19 | 55087254 | |||||||
| chr19:55087258 | G | C | 1 | a0003c0003t0001g0143 | 1 | NA18997.hp1 | intron_variant | MODIFIER | c.1953-45G>C | EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 18/19 | chr19 | 55087258 |