Search by Genic region
Multiple Alignments (by aa haplotype frequency)
Multiple Alignments (by aa haplotype similarity)
| Item | Value |
|---|---|
| geneid | 58513 |
| ensemblid | ENSG00000127527.14 |
| hgncid | 24634 |
| symbol | EPS15L1 |
| name | epidermal growth factor receptor pathway substrate 15 like 1 |
| refseq_nuc | NM_001258374.3 |
| refseq_prot | NP_001245303.1 |
| ensembl_nuc | ENST00000455140.7 |
| ensembl_prot | ENSP00000393313.1 |
| mane_status | MANE Select |
| chr | chr19 |
| start | 16355247 |
| end | 16471970 |
| strand | - |
| ver | v1.2 |
| region | chr19:16355247-16471970 |
| region5000 | chr19:16350247-16476970 |
| regionname0 | EPS15L1_chr19_16355247_16471970 |
| regionname5000 | EPS15L1_chr19_16350247_16476970 |
| ahapid | grch38/chm13v2 | alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001 | 1/1 | 910 | 271 | 82 | 54 | 95 | 8 | 30 | 62 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | MAAPL others(905): Show |
chr19 | 16350247 | 16476970 |
| a0002 | 0/0 | 910 | 3 | 0 | 0 | 3 | 0 | 0 | 2 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | MAAPL others(905): Show |
chr19 | 16350247 | 16476970 |
| a0003 | 0/0 | 910 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | MAAPL others(905): Show |
chr19 | 16350247 | 16476970 |
| a0004 | 0/0 | 910 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | MAAPL others(905): Show |
chr19 | 16350247 | 16476970 |
| achapid | grch38/chm13v2 | alen | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | aseq | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001 | 1/1 | 2730 | 263 | 79 | 50 | 94 | 8 | 30 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | ATGGC others(2725): Show |
chr19 | 16350247 | 16476970 | ||
| a0001c0002 | 0/0 | 2730 | 3 | 0 | 3 | 0 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | ATGGC others(2725): Show |
chr19 | 16350247 | 16476970 | ||
| a0001c0004 | 0/0 | 2730 | 2 | 2 | 0 | 0 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | ATGGC others(2725): Show |
chr19 | 16350247 | 16476970 | ||
| a0001c0005 | 0/0 | 2730 | 1 | 1 | 0 | 0 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | ATGGC others(2725): Show |
chr19 | 16350247 | 16476970 | ||
| a0001c0007 | 0/0 | 2730 | 1 | 0 | 0 | 1 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | ATGGC others(2725): Show |
chr19 | 16350247 | 16476970 | ||
| a0001c0009 | 0/0 | 2730 | 1 | 0 | 1 | 0 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | ATGGC others(2725): Show |
chr19 | 16350247 | 16476970 | ||
| a0002c0003 | 0/0 | 2730 | 3 | 0 | 0 | 3 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | ATGGC others(2725): Show |
chr19 | 16350247 | 16476970 | ||
| a0003c0008 | 0/0 | 2730 | 1 | 0 | 0 | 1 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | ATGGC others(2725): Show |
chr19 | 16350247 | 16476970 | ||
| a0004c0006 | 0/0 | 2730 | 1 | 0 | 0 | 1 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | ATGGC others(2725): Show |
chr19 | 16350247 | 16476970 |
| acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001 | 1/0 | 3216 | 251 | 76 | 47 | 92 | 7 | 28 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | GCTCG others(3211): Show |
chr19 | 16350247 | 16476970 |
| a0001c0001t0002 | 0/0 | 3216 | 5 | 0 | 3 | 0 | 1 | 1 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | GCTCG others(3211): Show |
chr19 | 16350247 | 16476970 |
| a0001c0001t0003 | 0/0 | 3216 | 3 | 3 | 0 | 0 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | GCTCG others(3211): Show |
chr19 | 16350247 | 16476970 |
| a0001c0001t0004 | 0/0 | 3216 | 1 | 0 | 0 | 0 | 0 | 1 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | GCTCG others(3211): Show |
chr19 | 16350247 | 16476970 |
| a0001c0001t0005 | 0/1 | 3216 | 1 | 0 | 0 | 0 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | GCTCG others(3211): Show |
chr19 | 16350247 | 16476970 |
| a0001c0001t0006 | 0/0 | 3216 | 1 | 0 | 0 | 1 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | GCTCG others(3211): Show |
chr19 | 16350247 | 16476970 |
| a0001c0001t0007 | 0/0 | 3216 | 1 | 0 | 0 | 1 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | GCTCG others(3211): Show |
chr19 | 16350247 | 16476970 |
| a0001c0002t0001 | 0/0 | 3216 | 3 | 0 | 3 | 0 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | GCTCG others(3211): Show |
chr19 | 16350247 | 16476970 |
| a0001c0004t0001 | 0/0 | 3216 | 2 | 2 | 0 | 0 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | GCTCG others(3211): Show |
chr19 | 16350247 | 16476970 |
| a0001c0005t0009 | 0/0 | 3216 | 1 | 1 | 0 | 0 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | GCTCG others(3211): Show |
chr19 | 16350247 | 16476970 |
| a0001c0007t0008 | 0/0 | 3216 | 1 | 0 | 0 | 1 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | GCTCG others(3211): Show |
chr19 | 16350247 | 16476970 |
| a0001c0009t0001 | 0/0 | 3216 | 1 | 0 | 1 | 0 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | GCTCG others(3211): Show |
chr19 | 16350247 | 16476970 |
| a0002c0003t0001 | 0/0 | 3216 | 3 | 0 | 0 | 3 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | GCTCG others(3211): Show |
chr19 | 16350247 | 16476970 |
| a0003c0008t0001 | 0/0 | 3216 | 1 | 0 | 0 | 1 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | GCTCG others(3211): Show |
chr19 | 16350247 | 16476970 |
| a0004c0006t0001 | 0/0 | 3216 | 1 | 0 | 0 | 1 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | GCTCG others(3211): Show |
chr19 | 16350247 | 16476970 |
| actghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001g0001 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0002 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0003 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0004 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0005 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0006 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0007 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0008 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0009 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0010 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0011 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0012 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0013 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0014 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0015 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0016 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0017 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0018 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0019 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0020 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0021 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0022 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0023 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0024 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0025 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0026 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0027 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0028 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0029 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0030 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0031 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0032 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0033 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0034 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0035 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0036 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0037 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0038 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0039 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0040 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0041 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0042 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0043 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0044 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0047 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0049 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0050 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0051 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0052 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0053 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0054 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0055 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0059 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0060 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0061 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0062 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0063 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0064 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0067 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0068 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0069 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0070 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0071 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0072 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0073 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0074 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0075 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0076 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0077 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0078 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0079 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0080 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0081 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0082 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0083 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0085 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0086 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0087 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0088 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0089 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0090 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0091 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0092 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0093 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0094 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0095 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0096 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0097 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0098 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0099 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0100 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0101 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0102 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0103 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0104 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0105 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0106 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0107 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0108 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0109 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0110 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0111 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0112 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0115 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0116 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0117 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0118 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0119 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0121 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0123 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0124 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0125 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0126 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0127 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0128 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0129 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0130 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0131 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0132 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0133 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0134 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0135 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0136 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0137 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0138 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0139 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0140 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0141 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0142 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0143 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0144 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0145 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0146 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0147 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0148 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0149 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0150 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0151 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0152 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0153 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0154 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0155 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0157 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0158 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0159 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0160 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0161 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0162 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0164 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0165 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0166 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0167 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0169 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0170 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0171 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0172 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0173 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0174 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0175 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0176 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0177 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0178 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0179 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0180 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0181 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0182 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0183 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0184 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0185 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0186 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0187 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0188 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0189 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0190 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0191 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0192 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0194 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0195 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0196 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0197 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0198 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0199 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0200 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0201 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0202 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0203 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0204 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0205 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0206 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0207 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0208 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0209 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0211 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0212 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0213 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0214 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0215 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0216 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0217 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0218 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0219 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0223 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0224 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0225 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0226 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0227 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0228 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0229 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0230 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0231 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0232 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0233 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0234 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0235 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0236 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0237 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0238 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0239 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0240 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0241 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0242 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0243 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0244 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0245 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0246 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0247 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0248 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0249 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0250 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0251 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0252 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0253 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0254 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0255 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0256 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0258 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0259 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0260 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0261 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0262 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0263 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0264 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0265 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0266 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0267 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0268 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0269 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0270 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0271 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0272 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0001g0273 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0002g0056 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0002g0057 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0002g0058 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0002g0065 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0002g0066 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0003g0274 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0003g0275 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0003g0276 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0004g0113 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0005g0156 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0006g0163 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0001t0007g0114 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0002t0001g0220 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0002t0001g0221 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0002t0001g0222 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0004t0001g0045 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0004t0001g0046 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0005t0009g0257 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0007t0008g0048 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0001c0009t0001g0168 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0002c0003t0001g0120 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0002c0003t0001g0122 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0002c0003t0001g0193 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0003c0008t0001g0210 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| a0004c0006t0001g0084 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| HG00099 | hp1 | a0001 | c0001 | t0001 | g0259 | EUR | GBR | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| HG00099 | hp2 | a0001 | c0001 | t0001 | g0161 | EUR | GBR | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| HG00280 | hp1 | a0001 | c0001 | t0001 | g0157 | EUR | FIN | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| HG00280 | hp2 | a0001 | c0001 | t0001 | g0249 | EUR | FIN | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| HG00323 | hp1 | a0001 | c0001 | t0001 | g0117 | EUR | FIN | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| HG00323 | hp2 | a0001 | c0001 | t0001 | g0108 | EUR | FIN | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| HG00408 | hp1 | a0001 | c0001 | t0001 | g0004 | EAS | CHS | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| HG00408 | hp2 | a0002 | c0003 | t0001 | g0193 | EAS | CHS | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| HG00423 | hp1 | a0001 | c0001 | t0001 | g0111 | EAS | CHS | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| HG00423 | hp2 | a0001 | c0001 | t0001 | g0059 | EAS | CHS | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| HG00544 | hp1 | a0001 | c0001 | t0001 | g0094 | EAS | CHS | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| HG00544 | hp2 | a0001 | c0001 | t0001 | g0213 | EAS | CHS | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| HG00558 | hp1 | a0001 | c0001 | t0001 | g0204 | EAS | CHS | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| HG00558 | hp2 | a0001 | c0001 | t0001 | g0270 | EAS | CHS | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| HG00609 | hp1 | a0001 | c0001 | t0001 | g0143 | EAS | CHS | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| HG00609 | hp2 | a0001 | c0001 | t0001 | g0083 | EAS | CHS | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| HG00621 | hp1 | a0001 | c0001 | t0001 | g0226 | EAS | CHS | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| HG00621 | hp2 | a0001 | c0001 | t0001 | g0209 | EAS | CHS | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| HG00639 | hp1 | a0001 | c0001 | t0001 | g0055 | AMR | PUR | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| HG00639 | hp2 | a0001 | c0002 | t0001 | g0220 | AMR | PUR | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| HG00733 | hp1 | a0001 | c0001 | t0001 | g0244 | AMR | PUR | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| HG00733 | hp2 | a0001 | c0001 | t0001 | g0155 | AMR | PUR | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| HG00735 | hp1 | a0001 | c0001 | t0001 | g0185 | AMR | PUR | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| HG00735 | hp2 | a0001 | c0001 | t0001 | g0067 | AMR | PUR | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| HG00741 | hp1 | a0001 | c0001 | t0001 | g0090 | AMR | PUR | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| HG00741 | hp2 | a0001 | c0001 | t0001 | g0158 | AMR | PUR | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| HG01070 | hp1 | a0001 | c0001 | t0001 | g0175 | AMR | PUR | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| HG01070 | hp2 | a0001 | c0001 | t0001 | g0039 | AMR | PUR | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| HG01071 | hp1 | a0001 | c0001 | t0001 | g0183 | AMR | PUR | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| HG01071 | hp2 | a0001 | c0001 | t0001 | g0040 | AMR | PUR | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| HG01074 | hp1 | a0001 | c0001 | t0001 | g0203 | AMR | PUR | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| HG01074 | hp2 | a0001 | c0001 | t0002 | g0057 | AMR | PUR | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| HG01109 | hp1 | a0001 | c0001 | t0002 | g0056 | AMR | PUR | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| HG01109 | hp2 | a0001 | c0001 | t0001 | g0237 | AMR | PUR | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| HG01167 | hp1 | a0001 | c0001 | t0001 | g0243 | AMR | PUR | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| HG01167 | hp2 | a0001 | c0001 | t0001 | g0166 | AMR | PUR | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| HG01175 | hp1 | a0001 | c0001 | t0002 | g0065 | AMR | PUR | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| HG01175 | hp2 | a0001 | c0002 | t0001 | g0222 | AMR | PUR | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| HG01192 | hp1 | a0001 | c0002 | t0001 | g0221 | AMR | PUR | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| HG01192 | hp2 | a0001 | c0001 | t0001 | g0016 | AMR | PUR | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| HG01243 | hp1 | a0001 | c0001 | t0001 | g0223 | AMR | PUR | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| HG01243 | hp2 | a0001 | c0001 | t0001 | g0116 | AMR | PUR | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| HG01257 | hp1 | a0001 | c0001 | t0001 | g0219 | AMR | CLM | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| HG01257 | hp2 | a0001 | c0001 | t0001 | g0097 | AMR | CLM | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| HG01261 | hp1 | a0001 | c0001 | t0001 | g0014 | AMR | CLM | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| HG01261 | hp2 | a0001 | c0001 | t0001 | g0181 | AMR | CLM | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| HG01346 | hp1 | a0001 | c0001 | t0001 | g0005 | AMR | CLM | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| HG01346 | hp2 | a0001 | c0001 | t0001 | g0232 | AMR | CLM | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| HG01433 | hp1 | a0001 | c0001 | t0001 | g0182 | AMR | CLM | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| HG01433 | hp2 | a0001 | c0001 | t0001 | g0164 | AMR | CLM | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| HG01496 | hp1 | a0001 | c0001 | t0001 | g0170 | AMR | CLM | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| HG01496 | hp2 | a0001 | c0001 | t0001 | g0264 | AMR | CLM | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| HG01884 | hp1 | a0001 | c0001 | t0001 | g0176 | AFR | ACB | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| HG01884 | hp2 | a0001 | c0001 | t0001 | g0230 | AFR | ACB | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| HG01928 | hp1 | a0001 | c0001 | t0001 | g0212 | AMR | PEL | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| HG01928 | hp2 | a0001 | c0001 | t0001 | g0012 | AMR | PEL | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| HG01934 | hp1 | a0001 | c0001 | t0001 | g0214 | AMR | PEL | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| HG01934 | hp2 | a0001 | c0001 | t0001 | g0130 | AMR | PEL | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| HG01943 | hp1 | a0001 | c0001 | t0001 | g0184 | AMR | PEL | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| HG01943 | hp2 | a0001 | c0001 | t0001 | g0017 | AMR | PEL | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| HG01952 | hp1 | a0001 | c0009 | t0001 | g0168 | AMR | PEL | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| HG01952 | hp2 | a0001 | c0001 | t0001 | g0007 | AMR | PEL | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| HG01978 | hp1 | a0001 | c0001 | t0001 | g0013 | AMR | PEL | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| HG01978 | hp2 | a0001 | c0001 | t0001 | g0167 | AMR | PEL | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| HG01981 | hp1 | a0001 | c0001 | t0001 | g0006 | AMR | PEL | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| HG01981 | hp2 | a0001 | c0001 | t0001 | g0205 | AMR | PEL | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| HG02015 | hp1 | a0001 | c0001 | t0001 | g0096 | EAS | KHV | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| HG02015 | hp2 | a0001 | c0001 | t0001 | g0199 | EAS | KHV | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| HG02027 | hp1 | a0001 | c0007 | t0008 | g0048 | EAS | KHV | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| HG02027 | hp2 | a0001 | c0001 | t0001 | g0200 | EAS | KHV | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| HG02040 | hp1 | a0001 | c0001 | t0001 | g0142 | EAS | KHV | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| HG02040 | hp2 | a0001 | c0001 | t0001 | g0078 | EAS | KHV | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| HG02055 | hp1 | a0001 | c0001 | t0001 | g0198 | AFR | ACB | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| HG02055 | hp2 | a0001 | c0001 | t0001 | g0146 | AFR | ACB | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| HG02080 | hp1 | a0001 | c0001 | t0001 | g0242 | EAS | KHV | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| HG02080 | hp2 | a0001 | c0001 | t0001 | g0064 | EAS | KHV | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| HG02083 | hp1 | a0001 | c0001 | t0001 | g0049 | EAS | KHV | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| HG02083 | hp2 | a0001 | c0001 | t0001 | g0095 | EAS | KHV | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| HG02129 | hp1 | a0001 | c0001 | t0001 | g0227 | EAS | KHV | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| HG02129 | hp2 | a0001 | c0001 | t0001 | g0092 | EAS | KHV | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| HG02135 | hp1 | a0001 | c0001 | t0001 | g0150 | EAS | KHV | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| HG02135 | hp2 | a0001 | c0001 | t0001 | g0088 | EAS | KHV | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| HG02148 | hp1 | a0001 | c0001 | t0001 | g0189 | AMR | PEL | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| HG02148 | hp2 | a0001 | c0001 | t0001 | g0008 | AMR | PEL | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| HG02155 | hp1 | a0001 | c0001 | t0001 | g0098 | EAS | CDX | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| HG02155 | hp2 | a0001 | c0001 | t0001 | g0003 | EAS | CDX | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| HG02165 | hp1 | a0001 | c0001 | t0001 | g0093 | EAS | CDX | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| HG02165 | hp2 | a0001 | c0001 | t0001 | g0194 | EAS | CDX | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| HG02257 | hp1 | a0001 | c0001 | t0001 | g0248 | AFR | ACB | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| HG02257 | hp2 | a0001 | c0001 | t0001 | g0253 | AFR | ACB | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| HG02258 | hp1 | a0001 | c0001 | t0001 | g0137 | AFR | ACB | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| HG02258 | hp2 | a0001 | c0001 | t0001 | g0252 | AFR | ACB | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| HG02273 | hp1 | a0001 | c0001 | t0001 | g0015 | AMR | PEL | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| HG02273 | hp2 | a0001 | c0001 | t0001 | g0218 | AMR | PEL | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| HG02280 | hp1 | a0001 | c0001 | t0001 | g0036 | AFR | ACB | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| HG02280 | hp2 | a0001 | c0005 | t0009 | g0257 | AFR | ACB | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| HG02293 | hp1 | a0001 | c0001 | t0001 | g0186 | AMR | PEL | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| HG02293 | hp2 | a0001 | c0001 | t0001 | g0235 | AMR | PEL | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| HG02300 | hp1 | a0001 | c0001 | t0001 | g0154 | AMR | PEL | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| HG02300 | hp2 | a0001 | c0001 | t0001 | g0010 | AMR | PEL | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| HG02451 | hp1 | a0001 | c0001 | t0003 | g0275 | AFR | ACB | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| HG02451 | hp2 | a0001 | c0001 | t0001 | g0126 | AFR | ACB | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| HG02572 | hp1 | a0001 | c0001 | t0001 | g0149 | AFR | GWD | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| HG02572 | hp2 | a0001 | c0001 | t0001 | g0030 | AFR | GWD | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| HG02602 | hp1 | a0001 | c0001 | t0001 | g0191 | SAS | PJL | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| HG02602 | hp2 | a0001 | c0001 | t0001 | g0260 | SAS | PJL | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| HG02615 | hp1 | a0001 | c0001 | t0001 | g0178 | AFR | GWD | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| HG02615 | hp2 | a0001 | c0001 | t0001 | g0127 | AFR | GWD | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| HG02622 | hp1 | a0001 | c0001 | t0001 | g0197 | AFR | GWD | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| HG02622 | hp2 | a0001 | c0001 | t0003 | g0274 | AFR | GWD | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| HG02630 | hp1 | a0001 | c0001 | t0001 | g0032 | AFR | GWD | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| HG02630 | hp2 | a0001 | c0001 | t0001 | g0133 | AFR | GWD | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| HG02647 | hp1 | a0001 | c0001 | t0001 | g0180 | AFR | GWD | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| HG02647 | hp2 | a0001 | c0001 | t0001 | g0053 | AFR | GWD | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| HG02683 | hp1 | a0001 | c0001 | t0001 | g0208 | SAS | PJL | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| HG02683 | hp2 | a0001 | c0001 | t0004 | g0113 | SAS | PJL | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| HG02698 | hp1 | a0001 | c0001 | t0002 | g0066 | SAS | PJL | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| HG02698 | hp2 | a0001 | c0001 | t0001 | g0187 | SAS | PJL | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| HG02717 | hp1 | a0001 | c0001 | t0003 | g0276 | AFR | GWD | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| HG02717 | hp2 | a0001 | c0001 | t0001 | g0177 | AFR | GWD | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| HG02809 | hp1 | a0001 | c0001 | t0001 | g0001 | AFR | GWD | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| HG02809 | hp2 | a0001 | c0001 | t0001 | g0136 | AFR | GWD | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| HG02818 | hp1 | a0001 | c0001 | t0001 | g0068 | AFR | GWD | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| HG02818 | hp2 | a0001 | c0001 | t0001 | g0027 | AFR | GWD | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| HG02886 | hp1 | a0001 | c0001 | t0001 | g0134 | AFR | GWD | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| HG02886 | hp2 | a0001 | c0004 | t0001 | g0045 | AFR | GWD | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| HG02895 | hp1 | a0001 | c0001 | t0001 | g0262 | AFR | GWD | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| HG02895 | hp2 | a0001 | c0001 | t0001 | g0028 | AFR | GWD | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| HG02896 | hp1 | a0001 | c0001 | t0001 | g0138 | AFR | GWD | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| HG02896 | hp2 | a0001 | c0001 | t0001 | g0019 | AFR | GWD | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| HG02897 | hp1 | a0001 | c0001 | t0001 | g0020 | AFR | GWD | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| HG02897 | hp2 | a0001 | c0001 | t0001 | g0031 | AFR | GWD | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| HG02922 | hp1 | a0001 | c0001 | t0001 | g0255 | AFR | ESN | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| HG02922 | hp2 | a0001 | c0001 | t0001 | g0125 | AFR | ESN | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| HG02965 | hp1 | a0001 | c0001 | t0001 | g0272 | AFR | ESN | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| HG02965 | hp2 | a0001 | c0001 | t0001 | g0054 | AFR | ESN | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| HG02976 | hp1 | a0001 | c0001 | t0001 | g0069 | AFR | ESN | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| HG02976 | hp2 | a0001 | c0001 | t0001 | g0256 | AFR | ESN | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| HG03017 | hp1 | a0001 | c0001 | t0001 | g0215 | SAS | PJL | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| HG03017 | hp2 | a0001 | c0001 | t0001 | g0011 | SAS | PJL | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| HG03041 | hp1 | a0001 | c0001 | t0001 | g0073 | AFR | GWD | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| HG03041 | hp2 | a0001 | c0001 | t0001 | g0224 | AFR | GWD | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| HG03098 | hp1 | a0001 | c0001 | t0001 | g0044 | AFR | MSL | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| HG03098 | hp2 | a0001 | c0001 | t0001 | g0129 | AFR | MSL | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| HG03139 | hp1 | a0001 | c0001 | t0001 | g0153 | AFR | ESN | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| HG03139 | hp2 | a0001 | c0001 | t0001 | g0029 | AFR | ESN | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| HG03195 | hp1 | a0001 | c0001 | t0001 | g0038 | AFR | ESN | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| HG03195 | hp2 | a0001 | c0001 | t0001 | g0025 | AFR | ESN | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| HG03209 | hp1 | a0001 | c0001 | t0001 | g0026 | AFR | MSL | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| HG03209 | hp2 | a0001 | c0001 | t0001 | g0135 | AFR | MSL | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| HG03225 | hp1 | a0001 | c0001 | t0001 | g0139 | AFR | MSL | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| HG03225 | hp2 | a0001 | c0001 | t0001 | g0070 | AFR | MSL | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| HG03453 | hp1 | a0001 | c0001 | t0001 | g0035 | AFR | MSL | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| HG03453 | hp2 | a0001 | c0001 | t0001 | g0254 | AFR | MSL | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| HG03491 | hp1 | a0001 | c0001 | t0001 | g0173 | SAS | PJL | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| HG03491 | hp2 | a0001 | c0001 | t0001 | g0021 | SAS | PJL | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| HG03492 | hp1 | a0001 | c0001 | t0001 | g0174 | SAS | PJL | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| HG03492 | hp2 | a0001 | c0001 | t0001 | g0211 | SAS | PJL | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| HG03516 | hp1 | a0001 | c0001 | t0001 | g0018 | AFR | ESN | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| HG03516 | hp2 | a0001 | c0001 | t0001 | g0033 | AFR | ESN | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| HG03540 | hp1 | a0001 | c0001 | t0001 | g0148 | AFR | GWD | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| HG03540 | hp2 | a0001 | c0001 | t0001 | g0072 | AFR | GWD | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| HG03579 | hp1 | a0001 | c0001 | t0001 | g0140 | AFR | MSL | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| HG03579 | hp2 | a0001 | c0001 | t0001 | g0172 | AFR | MSL | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| HG03688 | hp1 | a0001 | c0001 | t0001 | g0041 | SAS | STU | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| HG03688 | hp2 | a0001 | c0001 | t0001 | g0233 | SAS | STU | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| HG03704 | hp1 | a0001 | c0001 | t0001 | g0188 | SAS | PJL | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| HG03704 | hp2 | a0001 | c0001 | t0001 | g0118 | SAS | PJL | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| HG03710 | hp1 | a0001 | c0001 | t0001 | g0245 | SAS | PJL | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| HG03710 | hp2 | a0001 | c0001 | t0001 | g0171 | SAS | PJL | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| HG03831 | hp1 | a0001 | c0001 | t0001 | g0228 | SAS | BEB | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| HG03831 | hp2 | a0001 | c0001 | t0001 | g0147 | SAS | BEB | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| HG03927 | hp1 | a0001 | c0001 | t0001 | g0160 | SAS | BEB | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| HG03927 | hp2 | a0001 | c0001 | t0001 | g0061 | SAS | BEB | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| HG04115 | hp1 | a0001 | c0001 | t0001 | g0145 | SAS | STU | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| HG04115 | hp2 | a0001 | c0001 | t0001 | g0261 | SAS | STU | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| HG04184 | hp1 | a0001 | c0001 | t0001 | g0121 | SAS | BEB | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| HG04184 | hp2 | a0001 | c0001 | t0001 | g0103 | SAS | BEB | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| HG04204 | hp1 | a0001 | c0001 | t0001 | g0217 | SAS | STU | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| HG04204 | hp2 | a0001 | c0001 | t0001 | g0234 | SAS | STU | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| HG04228 | hp1 | a0001 | c0001 | t0001 | g0151 | SAS | STU | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| HG04228 | hp2 | a0001 | c0001 | t0001 | g0060 | SAS | STU | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| NA18522 | hp1 | a0001 | c0001 | t0001 | g0246 | AFR | YRI | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| NA18522 | hp2 | a0001 | c0001 | t0001 | g0002 | AFR | YRI | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| NA18612 | hp1 | a0001 | c0001 | t0001 | g0091 | EAS | CHB | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| NA18612 | hp2 | a0001 | c0001 | t0001 | g0225 | EAS | CHB | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| NA18747 | hp1 | a0001 | c0001 | t0001 | g0112 | EAS | CHB | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| NA18747 | hp2 | a0001 | c0001 | t0001 | g0119 | EAS | CHB | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| NA18940 | hp1 | a0003 | c0008 | t0001 | g0210 | EAS | JPT | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| NA18940 | hp2 | a0001 | c0001 | t0001 | g0087 | EAS | JPT | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| NA18943 | hp1 | a0001 | c0001 | t0001 | g0042 | EAS | JPT | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| NA18943 | hp2 | a0001 | c0001 | t0001 | g0099 | EAS | JPT | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| NA18945 | hp1 | a0001 | c0001 | t0001 | g0165 | EAS | JPT | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| NA18945 | hp2 | a0001 | c0001 | t0001 | g0104 | EAS | JPT | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| NA18948 | hp1 | a0001 | c0001 | t0001 | g0085 | EAS | JPT | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| NA18948 | hp2 | a0001 | c0001 | t0001 | g0043 | EAS | JPT | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| NA18949 | hp1 | a0001 | c0001 | t0001 | g0263 | EAS | JPT | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| NA18949 | hp2 | a0001 | c0001 | t0001 | g0109 | EAS | JPT | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| NA18950 | hp1 | a0001 | c0001 | t0006 | g0163 | EAS | JPT | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| NA18950 | hp2 | a0001 | c0001 | t0001 | g0162 | EAS | JPT | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| NA18951 | hp1 | a0001 | c0001 | t0001 | g0268 | EAS | JPT | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| NA18951 | hp2 | a0004 | c0006 | t0001 | g0084 | EAS | JPT | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| NA18960 | hp1 | a0002 | c0003 | t0001 | g0122 | EAS | JPT | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| NA18960 | hp2 | a0001 | c0001 | t0001 | g0216 | EAS | JPT | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| NA18961 | hp1 | a0001 | c0001 | t0001 | g0075 | EAS | JPT | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| NA18961 | hp2 | a0001 | c0001 | t0001 | g0265 | EAS | JPT | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| NA18962 | hp1 | a0001 | c0001 | t0001 | g0159 | EAS | JPT | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| NA18962 | hp2 | a0001 | c0001 | t0001 | g0258 | EAS | JPT | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| NA18965 | hp1 | a0001 | c0001 | t0001 | g0077 | EAS | JPT | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| NA18965 | hp2 | a0002 | c0003 | t0001 | g0120 | EAS | JPT | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| NA18966 | hp1 | a0001 | c0001 | t0001 | g0105 | EAS | JPT | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| NA18966 | hp2 | a0001 | c0001 | t0001 | g0124 | EAS | JPT | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| NA18967 | hp1 | a0001 | c0001 | t0001 | g0080 | EAS | JPT | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| NA18967 | hp2 | a0001 | c0001 | t0001 | g0123 | EAS | JPT | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| NA18969 | hp1 | a0001 | c0001 | t0001 | g0063 | EAS | JPT | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| NA18969 | hp2 | a0001 | c0001 | t0001 | g0110 | EAS | JPT | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| NA18971 | hp1 | a0001 | c0001 | t0001 | g0206 | EAS | JPT | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| NA18971 | hp2 | a0001 | c0001 | t0001 | g0051 | EAS | JPT | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| NA18992 | hp1 | a0001 | c0001 | t0007 | g0114 | EAS | JPT | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| NA18992 | hp2 | a0001 | c0001 | t0001 | g0009 | EAS | JPT | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| NA18995 | hp1 | a0001 | c0001 | t0001 | g0115 | EAS | JPT | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| NA18995 | hp2 | a0001 | c0001 | t0001 | g0267 | EAS | JPT | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| NA18997 | hp1 | a0001 | c0001 | t0001 | g0192 | EAS | JPT | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| NA18997 | hp2 | a0001 | c0001 | t0001 | g0141 | EAS | JPT | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| NA18998 | hp1 | a0001 | c0001 | t0001 | g0231 | EAS | JPT | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| NA18998 | hp2 | a0001 | c0001 | t0001 | g0050 | EAS | JPT | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| NA18999 | hp1 | a0001 | c0001 | t0001 | g0101 | EAS | JPT | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| NA18999 | hp2 | a0001 | c0001 | t0001 | g0196 | EAS | JPT | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| NA19002 | hp1 | a0001 | c0001 | t0001 | g0047 | EAS | JPT | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| NA19002 | hp2 | a0001 | c0001 | t0001 | g0239 | EAS | JPT | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| NA19011 | hp1 | a0001 | c0001 | t0001 | g0076 | EAS | JPT | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| NA19011 | hp2 | a0001 | c0001 | t0001 | g0207 | EAS | JPT | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| NA19030 | hp1 | a0001 | c0001 | t0001 | g0037 | AFR | LWK | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| NA19030 | hp2 | a0001 | c0001 | t0001 | g0179 | AFR | LWK | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| NA19056 | hp1 | a0001 | c0001 | t0001 | g0201 | EAS | JPT | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| NA19056 | hp2 | a0001 | c0001 | t0001 | g0082 | EAS | JPT | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| NA19057 | hp1 | a0001 | c0001 | t0001 | g0273 | EAS | JPT | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| NA19057 | hp2 | a0001 | c0001 | t0001 | g0238 | EAS | JPT | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| NA19058 | hp1 | a0001 | c0001 | t0001 | g0229 | EAS | JPT | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| NA19058 | hp2 | a0001 | c0001 | t0001 | g0106 | EAS | JPT | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| NA19060 | hp1 | a0001 | c0001 | t0001 | g0081 | EAS | JPT | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| NA19060 | hp2 | a0001 | c0001 | t0001 | g0079 | EAS | JPT | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| NA19066 | hp1 | a0001 | c0001 | t0001 | g0052 | EAS | JPT | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| NA19066 | hp2 | a0001 | c0001 | t0001 | g0241 | EAS | JPT | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| NA19067 | hp1 | a0001 | c0001 | t0001 | g0266 | EAS | JPT | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| NA19067 | hp2 | a0001 | c0001 | t0001 | g0086 | EAS | JPT | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| NA19068 | hp1 | a0001 | c0001 | t0001 | g0062 | EAS | JPT | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| NA19068 | hp2 | a0001 | c0001 | t0001 | g0144 | EAS | JPT | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| NA19077 | hp1 | a0001 | c0001 | t0001 | g0269 | EAS | JPT | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| NA19077 | hp2 | a0001 | c0001 | t0001 | g0089 | EAS | JPT | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| NA19079 | hp1 | a0001 | c0001 | t0001 | g0074 | EAS | JPT | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| NA19079 | hp2 | a0001 | c0001 | t0001 | g0240 | EAS | JPT | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| NA19085 | hp1 | a0001 | c0001 | t0001 | g0169 | EAS | JPT | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| NA19085 | hp2 | a0001 | c0001 | t0001 | g0100 | EAS | JPT | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| NA19240 | hp1 | a0001 | c0001 | t0001 | g0250 | AFR | YRI | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| NA19240 | hp2 | a0001 | c0001 | t0001 | g0022 | AFR | YRI | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| NA20129 | hp1 | a0001 | c0004 | t0001 | g0046 | AFR | ASW | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| NA20129 | hp2 | a0001 | c0001 | t0001 | g0132 | AFR | ASW | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| NA20752 | hp1 | a0001 | c0001 | t0001 | g0202 | EUR | TSI | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| NA20752 | hp2 | a0001 | c0001 | t0002 | g0058 | EUR | TSI | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| HG02109 | hp1 | a0001 | c0001 | t0001 | g0236 | AFR | ACB | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| HG02109 | hp2 | a0001 | c0001 | t0001 | g0071 | AFR | ACB | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| HG02559 | hp1 | a0001 | c0001 | t0001 | g0247 | AFR | ACB | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| HG02559 | hp2 | a0001 | c0001 | t0001 | g0152 | AFR | ACB | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| HG03471 | hp1 | a0001 | c0001 | t0001 | g0034 | AFR | MSL | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| HG03471 | hp2 | a0001 | c0001 | t0001 | g0128 | AFR | MSL | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| HG06807 | hp1 | a0001 | c0001 | t0001 | g0251 | AFR | USA | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| HG06807 | hp2 | a0001 | c0001 | t0001 | g0195 | AFR | USA | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| NA18955 | hp1 | a0001 | c0001 | t0001 | g0102 | EAS | JPT | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| NA18955 | hp2 | a0001 | c0001 | t0001 | g0190 | EAS | JPT | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| NA20300 | hp1 | a0001 | c0001 | t0001 | g0023 | AFR | USA | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| NA20300 | hp2 | a0001 | c0001 | t0001 | g0131 | AFR | USA | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| NA21309 | hp1 | a0001 | c0001 | t0001 | g0271 | AFR | LWK | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| NA21309 | hp2 | a0001 | c0001 | t0001 | g0024 | AFR | LWK | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| homoSapiens | chm13v2 | a0001 | c0001 | t0005 | g0156 | REF | REF | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| homoSapiens | grch38p0 | a0001 | c0001 | t0001 | g0107 | REF | REF | EPS15L1_chr19_16350247_16476970 | EPS15L1 | chr19 | 16350247 | 16476970 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr19:16392329 | G | A | 1 | a0002 | 3 | HG00408.hp2 NA18960.hp1 NA18965.hp2 |
missense_variant | MODERATE | c.2078C>T | p.Thr693Met | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 19/24 | 2103/3216 | 2078/2733 | 693/910 | chr19 | 16392329 | |||
| chr19:16403821 | G | T | 1 | a0004 | 1 | NA18951.hp2 | missense_variant | MODERATE | c.1538C>A | p.Thr513Asn | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 15/24 | 1563/3216 | 1538/2733 | 513/910 | chr19 | 16403821 | |||
| chr19:16403851 | G | A | 1 | a0003 | 1 | NA18940.hp1 | missense_variant | MODERATE | c.1508C>T | p.Ser503Leu | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 15/24 | 1533/3216 | 1508/2733 | 503/910 | chr19 | 16403851 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr19:16355711 | G | A | 1 | a0001c0007 | 1 | HG02027.hp1 | synonymous_variant | LOW | c.2727C>T | p.Ala909Ala | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 24/24 | 2752/3216 | 2727/2733 | 909/910 | chr19 | 16355711 | |||
| chr19:16417611 | C | T | 1 | a0001c0005 | 1 | HG02280.hp2 | synonymous_variant | LOW | c.1134G>A | p.Gly378Gly | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 12/24 | 1159/3216 | 1134/2733 | 378/910 | chr19 | 16417611 | |||
| chr19:16425149 | G | A | 1 | a0001c0009 | 1 | HG01952.hp1 | synonymous_variant | LOW | c.726C>T | p.His242His | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 9/24 | 751/3216 | 726/2733 | 242/910 | chr19 | 16425149 | |||
| chr19:16436967 | C | T | 1 | a0001c0002 | 3 | HG00639.hp2 HG01175.hp2 HG01192.hp1 |
synonymous_variant | LOW | c.342G>A | p.Pro114Pro | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 6/24 | 367/3216 | 342/2733 | 114/910 | chr19 | 16436967 | |||
| chr19:16441979 | G | A | 1 | a0001c0004 | 2 | HG02886.hp2 NA20129.hp1 |
splice_region_variant&synonymous_variant | LOW | c.78C>T | p.Val26Val | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 3/24 | 103/3216 | 78/2733 | 26/910 | chr19 | 16441979 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr19:16355297 | C | T | 1 | a0001c0001t0004 | 1 | HG02683.hp2 | 3_prime_UTR_variant | MODIFIER | c.*408G>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 24/24 | 408 | chr19 | 16355297 | ||||||
| chr19:16355349 | G | A | 1 | a0001c0001t0006 | 1 | NA18950.hp1 | 3_prime_UTR_variant | MODIFIER | c.*356C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 24/24 | 356 | chr19 | 16355349 | ||||||
| chr19:16355602 | T | C | 1 | a0001c0001t0007 | 1 | NA18992.hp1 | 3_prime_UTR_variant | MODIFIER | c.*103A>G | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 24/24 | 103 | chr19 | 16355602 | ||||||
| chr19:16355611 | G | A | 1 | a0001c0007t0008 | 1 | HG02027.hp1 | 3_prime_UTR_variant | MODIFIER | c.*94C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 24/24 | 94 | chr19 | 16355611 | ||||||
| chr19:16355633 | A | G | 1 | a0001c0001t0002 | 5 | HG01074.hp2 HG01109.hp1 HG01175.hp1 others(2): Show |
3_prime_UTR_variant | MODIFIER | c.*72T>C | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 24/24 | 72 | chr19 | 16355633 | ||||||
| chr19:16355674 | G | A | 1 | a0001c0005t0009 | 1 | HG02280.hp2 | 3_prime_UTR_variant | MODIFIER | c.*31C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 24/24 | 31 | chr19 | 16355674 | ||||||
| chr19:16471953 | C | A | 1 | a0001c0001t0003 | 3 | HG02451.hp1 HG02622.hp2 HG02717.hp1 |
5_prime_UTR_variant | MODIFIER | c.-8G>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/24 | 8 | chr19 | 16471953 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr19:16355970 | C | T | 1 | a0001c0001t0001g0207 | 1 | NA19011.hp2 | intron_variant | MODIFIER | c.2587-119G>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 23/23 | chr19 | 16355970 | |||||||
| chr19:16356235 | C | T | 4 | a0001c0001t0001g0087 a0001c0001t0001g0098 a0001c0001t0001g0100 others(1): Show |
4 | HG02155.hp1 NA18747.hp2 NA18940.hp2 others(1): Show |
intron_variant | MODIFIER | c.2587-384G>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 23/23 | chr19 | 16356235 | |||||||
| chr19:16356323 | T | C | 3 | a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0044 |
3 | HG01070.hp2 HG01071.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.2587-472A>G | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 23/23 | chr19 | 16356323 | |||||||
| chr19:16356461 | G | A | 1 | a0001c0001t0001g0047 | 1 | NA19002.hp1 | intron_variant | MODIFIER | c.2587-610C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 23/23 | chr19 | 16356461 | |||||||
| chr19:16356574 | T | C | 1 | a0001c0005t0009g0257 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.2587-723A>G | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 23/23 | chr19 | 16356574 | |||||||
| chr19:16356646 | T | A | 1 | a0001c0005t0009g0257 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.2587-795A>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 23/23 | chr19 | 16356646 | |||||||
| chr19:16356855 | C | T | 1 | a0001c0001t0001g0167 | 1 | HG01978.hp2 | intron_variant | MODIFIER | c.2587-1004G>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 23/23 | chr19 | 16356855 | |||||||
| chr19:16356943 | G | A | 7 | a0001c0001t0001g0054 a0001c0001t0001g0244 a0001c0001t0001g0245 others(4): Show |
7 | HG00280.hp2 HG00733.hp1 HG02257.hp1 others(4): Show |
intron_variant | MODIFIER | c.2587-1092C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 23/23 | chr19 | 16356943 | |||||||
| chr19:16356948 | A | G | 146 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0021 others(143): Show |
146 | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(143): Show |
intron_variant | MODIFIER | c.2587-1097T>C | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 23/23 | chr19 | 16356948 | |||||||
| chr19:16357149 | G | A | 2 | a0001c0001t0001g0019 a0001c0001t0001g0020 |
2 | HG02896.hp2 HG02897.hp1 |
intron_variant | MODIFIER | c.2587-1298C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 23/23 | chr19 | 16357149 | |||||||
| chr19:16357168 | G | C | 1 | a0001c0001t0001g0125 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.2587-1317C>G | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 23/23 | chr19 | 16357168 | |||||||
| chr19:16357192 | G | A | 182 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(179): Show |
182 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(179): Show |
intron_variant | MODIFIER | c.2587-1341C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 23/23 | chr19 | 16357192 | |||||||
| chr19:16357371 | T | A | 1 | a0001c0001t0001g0149 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.2587-1520A>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 23/23 | chr19 | 16357371 | |||||||
| chr19:16357425 | G | A | 1 | a0001c0001t0001g0116 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.2587-1574C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 23/23 | chr19 | 16357425 | |||||||
| chr19:16357506 | G | C | 1 | a0001c0001t0001g0022 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.2587-1655C>G | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 23/23 | chr19 | 16357506 | |||||||
| chr19:16357538 | G | A | 3 | a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0188 |
3 | HG03491.hp1 HG03492.hp1 HG03704.hp1 |
intron_variant | MODIFIER | c.2587-1687C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 23/23 | chr19 | 16357538 | |||||||
| chr19:16357596 | G | A | 1 | a0001c0004t0001g0046 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.2587-1745C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 23/23 | chr19 | 16357596 | |||||||
| chr19:16357794 | G | A | 1 | a0001c0001t0001g0148 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.2587-1943C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 23/23 | chr19 | 16357794 | |||||||
| chr19:16357861 | T | TC | 44 | a0001c0001t0001g0004 a0001c0001t0001g0022 a0001c0001t0001g0026 others(41): Show |
44 | HG00280.hp2 HG00323.hp1 HG00408.hp1 others(41): Show |
intron_variant | MODIFIER | c.2587-2011dupG | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 23/23 | chr19 | 16357861 | |||||||
| chr19:16358052 | G | A | 3 | a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0176 |
3 | HG01884.hp1 HG02630.hp2 HG02886.hp1 |
intron_variant | MODIFIER | c.2587-2201C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 23/23 | chr19 | 16358052 | |||||||
| chr19:16358261 | G | A | 1 | a0001c0001t0001g0133 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.2587-2410C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 23/23 | chr19 | 16358261 | |||||||
| chr19:16358662 | G | A | 1 | a0001c0001t0001g0082 | 1 | NA19056.hp2 | intron_variant | MODIFIER | c.2587-2811C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 23/23 | chr19 | 16358662 | |||||||
| chr19:16358693 | C | T | 3 | a0001c0001t0003g0274 a0001c0001t0003g0275 a0001c0001t0003g0276 |
3 | HG02451.hp1 HG02622.hp2 HG02717.hp1 |
intron_variant | MODIFIER | c.2587-2842G>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 23/23 | chr19 | 16358693 | |||||||
| chr19:16358825 | G | A | 1 | a0001c0001t0001g0141 | 1 | NA18997.hp2 | intron_variant | MODIFIER | c.2586+2954C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 23/23 | chr19 | 16358825 | |||||||
| chr19:16358825 | G | C | 1 | a0001c0001t0001g0130 | 1 | HG01934.hp2 | intron_variant | MODIFIER | c.2586+2954C>G | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 23/23 | chr19 | 16358825 | |||||||
| chr19:16359012 | T | C | 3 | a0001c0001t0001g0147 a0001c0001t0001g0151 a0001c0001t0001g0187 |
3 | HG02698.hp2 HG03831.hp2 HG04228.hp1 |
intron_variant | MODIFIER | c.2586+2767A>G | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 23/23 | chr19 | 16359012 | |||||||
| chr19:16359092 | G | A | 1 | a0001c0001t0001g0043 | 1 | NA18948.hp2 | intron_variant | MODIFIER | c.2586+2687C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 23/23 | chr19 | 16359092 | |||||||
| chr19:16359196 | G | A | 2 | a0001c0001t0001g0128 a0001c0001t0001g0129 |
2 | HG03098.hp2 HG03471.hp2 |
intron_variant | MODIFIER | c.2586+2583C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 23/23 | chr19 | 16359196 | |||||||
| chr19:16359337 | T | C | 1 | a0001c0001t0001g0124 | 1 | NA18966.hp2 | intron_variant | MODIFIER | c.2586+2442A>G | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 23/23 | chr19 | 16359337 | |||||||
| chr19:16359344 | C | T | 1 | a0001c0001t0001g0176 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.2586+2435G>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 23/23 | chr19 | 16359344 | |||||||
| chr19:16359354 | G | A | 1 | a0001c0001t0001g0229 | 1 | NA19058.hp1 | intron_variant | MODIFIER | c.2586+2425C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 23/23 | chr19 | 16359354 | |||||||
| chr19:16359716 | G | C | 4 | a0001c0001t0001g0116 a0001c0001t0001g0173 a0001c0001t0001g0174 others(1): Show |
4 | HG01243.hp2 HG03491.hp1 HG03492.hp1 others(1): Show |
intron_variant | MODIFIER | c.2586+2063C>G | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 23/23 | chr19 | 16359716 | |||||||
| chr19:16359748 | G | C | 19 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(16): Show |
19 | HG01192.hp2 HG01261.hp1 HG01346.hp1 others(16): Show |
intron_variant | MODIFIER | c.2586+2031C>G | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 23/23 | chr19 | 16359748 | |||||||
| chr19:16359866 | T | A | 205 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 others(202): Show |
205 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(202): Show |
intron_variant | MODIFIER | c.2586+1913A>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 23/23 | chr19 | 16359866 | |||||||
| chr19:16359889 | G | GA | 6 | a0001c0001t0001g0075 a0001c0001t0001g0081 a0001c0001t0001g0110 others(3): Show |
6 | HG00423.hp1 HG01109.hp2 HG02109.hp1 others(3): Show |
intron_variant | MODIFIER | c.2586+1889dupT | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 23/23 | chr19 | 16359889 | |||||||
| chr19:16359900 | A | C | 204 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 others(201): Show |
204 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(201): Show |
intron_variant | MODIFIER | c.2586+1879T>G | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 23/23 | chr19 | 16359900 | |||||||
| chr19:16360064 | G | GT | 7 | a0001c0001t0001g0145 a0001c0001t0001g0160 a0001c0001t0001g0176 others(4): Show |
7 | HG01884.hp1 HG02615.hp1 HG02647.hp1 others(4): Show |
intron_variant | MODIFIER | c.2586+1714dupA | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 23/23 | chr19 | 16360064 | |||||||
| chr19:16360064 | GT | G | 61 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(58): Show |
61 | HG00280.hp2 HG00323.hp1 HG00423.hp2 others(58): Show |
intron_variant | MODIFIER | c.2586+1714delA | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 23/23 | chr19 | 16360064 | |||||||
| chr19:16360088 | G | A | 1 | a0001c0004t0001g0045 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.2586+1691C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 23/23 | chr19 | 16360088 | |||||||
| chr19:16360414 | A | G | 1 | a0001c0001t0001g0179 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.2586+1365T>C | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 23/23 | chr19 | 16360414 | |||||||
| chr19:16360578 | C | CA | 19 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(16): Show |
19 | HG01192.hp2 HG01261.hp1 HG01346.hp1 others(16): Show |
intron_variant | MODIFIER | c.2586+1200dupT | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 23/23 | chr19 | 16360578 | |||||||
| chr19:16360608 | G | A | 1 | a0001c0001t0001g0246 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.2586+1171C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 23/23 | chr19 | 16360608 | |||||||
| chr19:16360734 | C | T | 2 | a0001c0001t0001g0039 a0001c0001t0001g0040 |
2 | HG01070.hp2 HG01071.hp2 |
intron_variant | MODIFIER | c.2586+1045G>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 23/23 | chr19 | 16360734 | |||||||
| chr19:16360809 | C | T | 1 | a0001c0001t0001g0081 | 1 | NA19060.hp1 | intron_variant | MODIFIER | c.2586+970G>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 23/23 | chr19 | 16360809 | |||||||
| chr19:16360904 | A | G | 229 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(226): Show |
229 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(226): Show |
intron_variant | MODIFIER | c.2586+875T>C | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 23/23 | chr19 | 16360904 | |||||||
| chr19:16361060 | G | C | 95 | a0001c0001t0001g0003 a0001c0001t0001g0021 a0001c0001t0001g0121 others(92): Show |
95 | HG00099.hp2 HG00280.hp1 HG00408.hp2 others(92): Show |
intron_variant | MODIFIER | c.2586+719C>G | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 23/23 | chr19 | 16361060 | |||||||
| chr19:16361258 | T | TA | 204 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 others(201): Show |
204 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(201): Show |
intron_variant | MODIFIER | c.2586+520dupT | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 23/23 | chr19 | 16361258 | |||||||
| chr19:16361585 | C | CT | 17 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(14): Show |
17 | HG00408.hp1 HG01192.hp2 HG01261.hp1 others(14): Show |
intron_variant | MODIFIER | c.2586+193dupA | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 23/23 | chr19 | 16361585 | |||||||
| chr19:16362001 | A | G | 2 | a0001c0001t0001g0197 a0001c0001t0001g0198 |
2 | HG02055.hp1 HG02622.hp1 |
intron_variant | MODIFIER | c.2381-17T>C | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 22/23 | chr19 | 16362001 | |||||||
| chr19:16362254 | C | T | 1 | a0001c0001t0001g0271 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.2381-270G>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 22/23 | chr19 | 16362254 | |||||||
| chr19:16362377 | T | TA | 94 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(91): Show |
94 | HG00099.hp1 HG00280.hp2 HG00323.hp1 others(91): Show |
intron_variant | MODIFIER | c.2381-394dupT | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 22/23 | chr19 | 16362377 | |||||||
| chr19:16362377 | T | TAA | 11 | a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 others(8): Show |
11 | HG02280.hp1 HG02451.hp1 HG02559.hp2 others(8): Show |
intron_variant | MODIFIER | c.2381-395_2381-394d others(4): Show |
EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 22/23 | chr19 | 16362377 | |||||||
| chr19:16362469 | A | G | 20 | a0001c0001t0001g0002 a0001c0001t0001g0050 a0001c0001t0001g0051 others(17): Show |
20 | HG00099.hp1 HG00323.hp2 HG00735.hp2 others(17): Show |
intron_variant | MODIFIER | c.2381-485T>C | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 22/23 | chr19 | 16362469 | |||||||
| chr19:16362511 | C | CT | 56 | a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0012 others(53): Show |
56 | HG00408.hp1 HG00544.hp2 HG00621.hp2 others(53): Show |
intron_variant | MODIFIER | c.2381-528dupA | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 22/23 | chr19 | 16362511 | |||||||
| chr19:16362511 | C | CTT | 6 | a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0216 others(3): Show |
6 | HG01175.hp2 HG02148.hp1 NA18955.hp2 others(3): Show |
intron_variant | MODIFIER | c.2381-529_2381-528d others(4): Show |
EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 22/23 | chr19 | 16362511 | |||||||
| chr19:16362511 | CT | C | 28 | a0001c0001t0001g0022 a0001c0001t0001g0038 a0001c0001t0001g0041 others(25): Show |
28 | HG00280.hp2 HG00323.hp1 HG00639.hp1 others(25): Show |
intron_variant | MODIFIER | c.2381-528delA | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 22/23 | chr19 | 16362511 | |||||||
| chr19:16362511 | CTTTTTTT others(5): Show |
C | 1 | a0001c0001t0001g0233 | 1 | HG03688.hp2 | intron_variant | MODIFIER | c.2381-539_2381-528d others(14): Show |
EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 22/23 | chr19 | 16362511 | |||||||
| chr19:16362511 | CTTTTTTT others(8): Show |
C | 4 | a0001c0001t0001g0243 a0001c0001t0001g0246 a0001c0001t0001g0247 others(1): Show |
4 | HG01167.hp1 HG02257.hp1 HG02559.hp1 others(1): Show |
intron_variant | MODIFIER | c.2381-542_2381-528d others(17): Show |
EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 22/23 | chr19 | 16362511 | |||||||
| chr19:16362511 | CTTTTTTT others(9): Show |
C | 1 | a0001c0001t0001g0011 | 1 | HG03017.hp2 | intron_variant | MODIFIER | c.2381-543_2381-528d others(18): Show |
EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 22/23 | chr19 | 16362511 | |||||||
| chr19:16362546 | C | T | 7 | a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 others(4): Show |
7 | HG02280.hp1 HG02559.hp2 HG03139.hp1 others(4): Show |
intron_variant | MODIFIER | c.2381-562G>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 22/23 | chr19 | 16362546 | |||||||
| chr19:16362599 | T | C | 3 | a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 |
3 | NA18971.hp2 NA18998.hp2 NA19066.hp1 |
intron_variant | MODIFIER | c.2381-615A>G | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 22/23 | chr19 | 16362599 | |||||||
| chr19:16362626 | C | T | 1 | a0001c0001t0001g0235 | 1 | HG02293.hp2 | intron_variant | MODIFIER | c.2381-642G>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 22/23 | chr19 | 16362626 | |||||||
| chr19:16362669 | G | A | 1 | a0001c0001t0001g0184 | 1 | HG01943.hp1 | intron_variant | MODIFIER | c.2381-685C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 22/23 | chr19 | 16362669 | |||||||
| chr19:16362869 | C | T | 1 | a0001c0001t0001g0223 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.2381-885G>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 22/23 | chr19 | 16362869 | |||||||
| chr19:16363199 | G | A | 3 | a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0125 |
3 | HG01070.hp2 HG01071.hp2 HG02922.hp2 |
intron_variant | MODIFIER | c.2381-1215C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 22/23 | chr19 | 16363199 | |||||||
| chr19:16363460 | C | T | 6 | a0001c0001t0001g0196 a0001c0001t0001g0206 a0001c0001t0001g0207 others(3): Show |
6 | HG00558.hp2 HG00621.hp2 NA18940.hp1 others(3): Show |
intron_variant | MODIFIER | c.2381-1476G>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 22/23 | chr19 | 16363460 | |||||||
| chr19:16363504 | C | T | 1 | a0001c0001t0001g0070 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.2381-1520G>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 22/23 | chr19 | 16363504 | |||||||
| chr19:16363605 | G | A | 1 | a0001c0001t0001g0212 | 1 | HG01928.hp1 | intron_variant | MODIFIER | c.2381-1621C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 22/23 | chr19 | 16363605 | |||||||
| chr19:16363630 | C | T | 1 | a0001c0001t0001g0142 | 1 | HG02040.hp1 | intron_variant | MODIFIER | c.2381-1646G>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 22/23 | chr19 | 16363630 | |||||||
| chr19:16363903 | G | A | 10 | a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 others(7): Show |
10 | HG00423.hp2 HG00544.hp1 HG02027.hp1 others(7): Show |
intron_variant | MODIFIER | c.2381-1919C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 22/23 | chr19 | 16363903 | |||||||
| chr19:16363936 | C | T | 1 | a0001c0001t0001g0227 | 1 | HG02129.hp1 | intron_variant | MODIFIER | c.2381-1952G>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 22/23 | chr19 | 16363936 | |||||||
| chr19:16364106 | G | A | 1 | a0001c0001t0001g0268 | 1 | NA18951.hp1 | intron_variant | MODIFIER | c.2381-2122C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 22/23 | chr19 | 16364106 | |||||||
| chr19:16364294 | C | A | 1 | a0001c0001t0001g0147 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.2381-2310G>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 22/23 | chr19 | 16364294 | |||||||
| chr19:16364299 | C | T | 1 | a0001c0001t0001g0098 | 1 | HG02155.hp1 | intron_variant | MODIFIER | c.2381-2315G>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 22/23 | chr19 | 16364299 | |||||||
| chr19:16364325 | C | T | 5 | a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 others(2): Show |
5 | HG02257.hp2 HG02258.hp2 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.2381-2341G>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 22/23 | chr19 | 16364325 | |||||||
| chr19:16364335 | A | T | 1 | a0001c0001t0001g0227 | 1 | HG02129.hp1 | intron_variant | MODIFIER | c.2381-2351T>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 22/23 | chr19 | 16364335 | |||||||
| chr19:16364349 | T | G | 1 | a0001c0001t0001g0070 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.2381-2365A>C | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 22/23 | chr19 | 16364349 | |||||||
| chr19:16364536 | C | T | 1 | a0001c0001t0001g0195 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.2381-2552G>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 22/23 | chr19 | 16364536 | |||||||
| chr19:16364537 | G | A | 1 | a0001c0001t0001g0035 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.2381-2553C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 22/23 | chr19 | 16364537 | |||||||
| chr19:16364577 | G | A | 122 | a0001c0001t0001g0003 a0001c0001t0001g0021 a0001c0001t0001g0039 others(119): Show |
122 | HG00099.hp2 HG00280.hp1 HG00408.hp2 others(119): Show |
intron_variant | MODIFIER | c.2381-2593C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 22/23 | chr19 | 16364577 | |||||||
| chr19:16364747 | G | A | 36 | a0001c0001t0001g0004 a0001c0001t0001g0022 a0001c0001t0001g0038 others(33): Show |
36 | HG00280.hp2 HG00323.hp1 HG00408.hp1 others(33): Show |
intron_variant | MODIFIER | c.2381-2763C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 22/23 | chr19 | 16364747 | |||||||
| chr19:16364761 | A | AG | 5 | a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 others(2): Show |
5 | HG02257.hp2 HG02258.hp2 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.2381-2778_2381-277 others(5): Show |
EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 22/23 | chr19 | 16364761 | |||||||
| chr19:16364762 | A | G | 63 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(60): Show |
63 | HG00280.hp2 HG00323.hp1 HG00408.hp1 others(60): Show |
intron_variant | MODIFIER | c.2381-2778T>C | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 22/23 | chr19 | 16364762 | |||||||
| chr19:16364788 | G | A | 19 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(16): Show |
19 | HG01192.hp2 HG01261.hp1 HG01346.hp1 others(16): Show |
intron_variant | MODIFIER | c.2381-2804C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 22/23 | chr19 | 16364788 | |||||||
| chr19:16364815 | C | G | 63 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(60): Show |
63 | HG00280.hp2 HG00323.hp1 HG00408.hp1 others(60): Show |
intron_variant | MODIFIER | c.2381-2831G>C | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 22/23 | chr19 | 16364815 | |||||||
| chr19:16364856 | C | T | 1 | a0001c0001t0001g0182 | 1 | HG01433.hp1 | intron_variant | MODIFIER | c.2381-2872G>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 22/23 | chr19 | 16364856 | |||||||
| chr19:16364869 | G | A | 1 | a0001c0001t0001g0013 | 1 | HG01978.hp1 | intron_variant | MODIFIER | c.2381-2885C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 22/23 | chr19 | 16364869 | |||||||
| chr19:16365193 | C | T | 19 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(16): Show |
19 | HG01192.hp2 HG01261.hp1 HG01346.hp1 others(16): Show |
intron_variant | MODIFIER | c.2381-3209G>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 22/23 | chr19 | 16365193 | |||||||
| chr19:16365481 | T | C | 1 | a0001c0001t0001g0146 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.2381-3497A>G | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 22/23 | chr19 | 16365481 | |||||||
| chr19:16365678 | C | T | 1 | a0001c0004t0001g0045 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.2381-3694G>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 22/23 | chr19 | 16365678 | |||||||
| chr19:16365719 | C | G | 5 | a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 others(2): Show |
5 | HG02257.hp2 HG02258.hp2 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.2381-3735G>C | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 22/23 | chr19 | 16365719 | |||||||
| chr19:16365775 | G | A | 6 | a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0165 others(3): Show |
6 | HG00544.hp2 NA18945.hp1 NA18950.hp1 others(3): Show |
intron_variant | MODIFIER | c.2381-3791C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 22/23 | chr19 | 16365775 | |||||||
| chr19:16365795 | A | G | 2 | a0001c0004t0001g0045 a0001c0004t0001g0046 |
2 | HG02886.hp2 NA20129.hp1 |
intron_variant | MODIFIER | c.2381-3811T>C | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 22/23 | chr19 | 16365795 | |||||||
| chr19:16365961 | A | G | 1 | a0001c0001t0001g0164 | 1 | HG01433.hp2 | intron_variant | MODIFIER | c.2381-3977T>C | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 22/23 | chr19 | 16365961 | |||||||
| chr19:16366090 | A | T | 3 | a0001c0001t0003g0274 a0001c0001t0003g0275 a0001c0001t0003g0276 |
3 | HG02451.hp1 HG02622.hp2 HG02717.hp1 |
intron_variant | MODIFIER | c.2381-4106T>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 22/23 | chr19 | 16366090 | |||||||
| chr19:16366118 | T | C | 3 | a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 |
3 | HG02257.hp1 HG02559.hp1 NA18522.hp1 |
intron_variant | MODIFIER | c.2381-4134A>G | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 22/23 | chr19 | 16366118 | |||||||
| chr19:16366444 | G | C | 122 | a0001c0001t0001g0003 a0001c0001t0001g0021 a0001c0001t0001g0039 others(119): Show |
122 | HG00099.hp2 HG00280.hp1 HG00408.hp2 others(119): Show |
intron_variant | MODIFIER | c.2381-4460C>G | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 22/23 | chr19 | 16366444 | |||||||
| chr19:16366503 | A | T | 1 | a0001c0001t0001g0022 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.2381-4519T>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 22/23 | chr19 | 16366503 | |||||||
| chr19:16366875 | C | T | 1 | a0001c0001t0001g0192 | 1 | NA18997.hp1 | intron_variant | MODIFIER | c.2381-4891G>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 22/23 | chr19 | 16366875 | |||||||
| chr19:16366928 | G | A | 1 | a0001c0001t0001g0093 | 1 | HG02165.hp1 | intron_variant | MODIFIER | c.2381-4944C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 22/23 | chr19 | 16366928 | |||||||
| chr19:16367017 | G | A | 1 | a0001c0001t0001g0148 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.2381-5033C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 22/23 | chr19 | 16367017 | |||||||
| chr19:16367089 | G | A | 1 | a0001c0001t0001g0009 | 1 | NA18992.hp2 | intron_variant | MODIFIER | c.2381-5105C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 22/23 | chr19 | 16367089 | |||||||
| chr19:16367160 | A | G | 1 | a0001c0001t0001g0015 | 1 | HG02273.hp1 | intron_variant | MODIFIER | c.2381-5176T>C | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 22/23 | chr19 | 16367160 | |||||||
| chr19:16367261 | G | A | 2 | a0001c0004t0001g0045 a0001c0004t0001g0046 |
2 | HG02886.hp2 NA20129.hp1 |
intron_variant | MODIFIER | c.2381-5277C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 22/23 | chr19 | 16367261 | |||||||
| chr19:16367318 | C | T | 7 | a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 others(4): Show |
7 | HG02280.hp1 HG02559.hp2 HG03139.hp1 others(4): Show |
intron_variant | MODIFIER | c.2381-5334G>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 22/23 | chr19 | 16367318 | |||||||
| chr19:16367356 | G | A | 1 | a0001c0001t0001g0155 | 1 | HG00733.hp2 | intron_variant | MODIFIER | c.2381-5372C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 22/23 | chr19 | 16367356 | |||||||
| chr19:16367497 | T | TA | 126 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0021 others(123): Show |
126 | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(123): Show |
intron_variant | MODIFIER | c.2381-5514dupT | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 22/23 | chr19 | 16367497 | |||||||
| chr19:16367497 | T | TAA | 22 | a0001c0001t0001g0023 a0001c0001t0001g0040 a0001c0001t0001g0116 others(19): Show |
22 | HG00558.hp1 HG00639.hp2 HG01071.hp2 others(19): Show |
intron_variant | MODIFIER | c.2381-5515_2381-551 others(6): Show |
EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 22/23 | chr19 | 16367497 | |||||||
| chr19:16367497 | TA | T | 20 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(17): Show |
20 | HG00323.hp2 HG01167.hp1 HG01192.hp2 others(17): Show |
intron_variant | MODIFIER | c.2381-5514delT | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 22/23 | chr19 | 16367497 | |||||||
| chr19:16367598 | C | T | 1 | a0001c0001t0001g0204 | 1 | HG00558.hp1 | intron_variant | MODIFIER | c.2381-5614G>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 22/23 | chr19 | 16367598 | |||||||
| chr19:16367670 | A | G | 1 | a0001c0001t0001g0188 | 1 | HG03704.hp1 | intron_variant | MODIFIER | c.2381-5686T>C | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 22/23 | chr19 | 16367670 | |||||||
| chr19:16367753 | C | CA | 64 | a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0012 others(61): Show |
64 | HG00544.hp1 HG00735.hp1 HG00741.hp2 others(61): Show |
intron_variant | MODIFIER | c.2381-5770dupT | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 22/23 | chr19 | 16367753 | |||||||
| chr19:16367835 | G | A | 3 | a0001c0001t0001g0108 a0001c0001t0001g0234 a0001c0001t0001g0235 |
3 | HG00323.hp2 HG02293.hp2 HG04204.hp2 |
intron_variant | MODIFIER | c.2381-5851C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 22/23 | chr19 | 16367835 | |||||||
| chr19:16367937 | G | A | 6 | a0001c0001t0001g0162 a0001c0001t0001g0189 a0001c0001t0001g0231 others(3): Show |
6 | HG00408.hp2 HG02148.hp1 NA18950.hp2 others(3): Show |
intron_variant | MODIFIER | c.2381-5953C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 22/23 | chr19 | 16367937 | |||||||
| chr19:16367970 | T | TGA | 66 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(63): Show |
66 | HG00280.hp2 HG00323.hp1 HG00408.hp1 others(63): Show |
intron_variant | MODIFIER | c.2381-5988_2381-598 others(6): Show |
EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 22/23 | chr19 | 16367970 | |||||||
| chr19:16367986 | T | A | 210 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(207): Show |
210 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(207): Show |
intron_variant | MODIFIER | c.2381-6002A>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 22/23 | chr19 | 16367986 | |||||||
| chr19:16367988 | T | A | 1 | a0001c0001t0001g0201 | 1 | NA19056.hp1 | intron_variant | MODIFIER | c.2381-6004A>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 22/23 | chr19 | 16367988 | |||||||
| chr19:16368087 | T | C | 1 | a0001c0001t0001g0162 | 1 | NA18950.hp2 | intron_variant | MODIFIER | c.2381-6103A>G | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 22/23 | chr19 | 16368087 | |||||||
| chr19:16368211 | T | A | 206 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(203): Show |
206 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(203): Show |
intron_variant | MODIFIER | c.2381-6227A>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 22/23 | chr19 | 16368211 | |||||||
| chr19:16368253 | G | A | 1 | a0003c0008t0001g0210 | 1 | NA18940.hp1 | intron_variant | MODIFIER | c.2381-6269C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 22/23 | chr19 | 16368253 | |||||||
| chr19:16368295 | C | T | 13 | a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0006 others(10): Show |
13 | HG01192.hp2 HG01261.hp1 HG01346.hp1 others(10): Show |
intron_variant | MODIFIER | c.2381-6311G>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 22/23 | chr19 | 16368295 | |||||||
| chr19:16368355 | T | C | 1 | a0001c0001t0001g0171 | 1 | HG03710.hp2 | intron_variant | MODIFIER | c.2381-6371A>G | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 22/23 | chr19 | 16368355 | |||||||
| chr19:16368391 | A | G | 5 | a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 others(2): Show |
5 | NA18949.hp2 NA18962.hp2 NA18971.hp2 others(2): Show |
intron_variant | MODIFIER | c.2381-6407T>C | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 22/23 | chr19 | 16368391 | |||||||
| chr19:16368600 | G | A | 3 | a0001c0002t0001g0220 a0001c0002t0001g0221 a0001c0002t0001g0222 |
3 | HG00639.hp2 HG01175.hp2 HG01192.hp1 |
intron_variant | MODIFIER | c.2381-6616C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 22/23 | chr19 | 16368600 | |||||||
| chr19:16368628 | A | G | 1 | a0001c0001t0001g0249 | 1 | HG00280.hp2 | intron_variant | MODIFIER | c.2381-6644T>C | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 22/23 | chr19 | 16368628 | |||||||
| chr19:16368766 | C | A | 6 | a0001c0001t0001g0148 a0001c0001t0001g0251 a0001c0001t0001g0252 others(3): Show |
6 | HG02257.hp2 HG02258.hp2 HG02922.hp1 others(3): Show |
intron_variant | MODIFIER | c.2381-6782G>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 22/23 | chr19 | 16368766 | |||||||
| chr19:16368805 | A | G | 36 | a0001c0001t0001g0022 a0001c0001t0001g0038 a0001c0001t0001g0041 others(33): Show |
36 | HG00280.hp2 HG00323.hp1 HG00423.hp2 others(33): Show |
intron_variant | MODIFIER | c.2381-6821T>C | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 22/23 | chr19 | 16368805 | |||||||
| chr19:16368828 | C | A | 3 | a0001c0001t0003g0274 a0001c0001t0003g0275 a0001c0001t0003g0276 |
3 | HG02451.hp1 HG02622.hp2 HG02717.hp1 |
intron_variant | MODIFIER | c.2381-6844G>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 22/23 | chr19 | 16368828 | |||||||
| chr19:16368849 | C | T | 36 | a0001c0001t0001g0022 a0001c0001t0001g0038 a0001c0001t0001g0041 others(33): Show |
36 | HG00280.hp2 HG00323.hp1 HG00423.hp2 others(33): Show |
intron_variant | MODIFIER | c.2381-6865G>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 22/23 | chr19 | 16368849 | |||||||
| chr19:16368969 | C | G | 1 | a0001c0001t0001g0119 | 1 | NA18747.hp2 | intron_variant | MODIFIER | c.2381-6985G>C | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 22/23 | chr19 | 16368969 | |||||||
| chr19:16369123 | AAG | A | 2 | a0001c0001t0001g0190 a0001c0001t0001g0216 |
2 | NA18955.hp2 NA18960.hp2 |
intron_variant | MODIFIER | c.2381-7141_2381-714 others(6): Show |
EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 22/23 | chr19 | 16369123 | |||||||
| chr19:16369260 | C | T | 205 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 others(202): Show |
205 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(202): Show |
intron_variant | MODIFIER | c.2381-7276G>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 22/23 | chr19 | 16369260 | |||||||
| chr19:16369284 | T | C | 1 | a0001c0001t0001g0077 | 1 | NA18965.hp1 | intron_variant | MODIFIER | c.2381-7300A>G | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 22/23 | chr19 | 16369284 | |||||||
| chr19:16369431 | G | A | 1 | a0001c0001t0001g0125 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.2381-7447C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 22/23 | chr19 | 16369431 | |||||||
| chr19:16369676 | A | AGT | 11 | a0001c0001t0001g0021 a0001c0001t0001g0096 a0001c0001t0001g0116 others(8): Show |
11 | HG01074.hp1 HG01243.hp2 HG01928.hp1 others(8): Show |
intron_variant | MODIFIER | c.2380+7444_2380+744 others(6): Show |
EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 22/23 | chr19 | 16369676 | |||||||
| chr19:16369676 | A | AGTGT | 34 | a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 others(31): Show |
34 | HG00280.hp2 HG00323.hp1 HG00423.hp2 others(31): Show |
intron_variant | MODIFIER | c.2380+7442_2380+744 others(8): Show |
EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 22/23 | chr19 | 16369676 | |||||||
| chr19:16369676 | A | AGTGTGT | 56 | a0001c0001t0001g0001 a0001c0001t0001g0026 a0001c0001t0001g0027 others(53): Show |
56 | HG00423.hp1 HG00544.hp1 HG00609.hp2 others(53): Show |
intron_variant | MODIFIER | c.2380+7440_2380+744 others(10): Show |
EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 22/23 | chr19 | 16369676 | |||||||
| chr19:16369676 | A | AGTGTGTG others(1): Show |
10 | a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 others(7): Show |
10 | HG01109.hp2 HG02109.hp1 HG02155.hp1 others(7): Show |
intron_variant | MODIFIER | c.2380+7438_2380+744 others(12): Show |
EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 22/23 | chr19 | 16369676 | |||||||
| chr19:16369676 | A | AGTGTGTG others(3): Show |
1 | a0001c0001t0001g0141 | 1 | NA18997.hp2 | intron_variant | MODIFIER | c.2380+7436_2380+744 others(14): Show |
EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 22/23 | chr19 | 16369676 | |||||||
| chr19:16369676 | A | AGTGTGTG others(5): Show |
4 | a0001c0001t0001g0172 a0001c0001t0001g0253 a0001c0001t0001g0254 others(1): Show |
4 | HG02257.hp2 HG02886.hp2 HG03453.hp2 others(1): Show |
intron_variant | MODIFIER | c.2380+7434_2380+744 others(16): Show |
EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 22/23 | chr19 | 16369676 | |||||||
| chr19:16369676 | A | AGTGTGTG others(7): Show |
19 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(16): Show |
19 | HG00323.hp2 HG00408.hp1 HG00735.hp2 others(16): Show |
intron_variant | MODIFIER | c.2380+7432_2380+744 others(18): Show |
EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 22/23 | chr19 | 16369676 | |||||||
| chr19:16369676 | A | AGTGTGTG others(9): Show |
11 | a0001c0001t0001g0007 a0001c0001t0001g0014 a0001c0001t0001g0016 others(8): Show |
11 | HG01192.hp2 HG01261.hp1 HG01433.hp2 others(8): Show |
intron_variant | MODIFIER | c.2380+7430_2380+744 others(20): Show |
EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 22/23 | chr19 | 16369676 | |||||||
| chr19:16369676 | A | AGTGTGTG others(11): Show |
6 | a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0069 others(3): Show |
6 | HG01496.hp2 HG02895.hp1 HG02976.hp1 others(3): Show |
intron_variant | MODIFIER | c.2380+7428_2380+744 others(22): Show |
EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 22/23 | chr19 | 16369676 | |||||||
| chr19:16369676 | A | AGTGTGTG others(13): Show |
5 | a0001c0001t0001g0002 a0001c0001t0001g0052 a0001c0001t0001g0234 others(2): Show |
5 | HG00099.hp1 HG02976.hp2 HG04204.hp2 others(2): Show |
intron_variant | MODIFIER | c.2380+7426_2380+744 others(24): Show |
EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 22/23 | chr19 | 16369676 | |||||||
| chr19:16369676 | A | AGTGTGTG others(15): Show |
1 | a0001c0001t0001g0260 | 1 | HG02602.hp2 | intron_variant | MODIFIER | c.2380+7424_2380+744 others(26): Show |
EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 22/23 | chr19 | 16369676 | |||||||
| chr19:16369676 | A | AGTGTGTG others(17): Show |
1 | a0001c0001t0001g0068 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.2380+7422_2380+744 others(28): Show |
EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 22/23 | chr19 | 16369676 | |||||||
| chr19:16369676 | A | AGTGTGTG others(27): Show |
1 | a0001c0001t0001g0071 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.2380+7445_2380+744 others(38): Show |
EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 22/23 | chr19 | 16369676 | |||||||
| chr19:16369676 | AGT | A | 88 | a0001c0001t0001g0003 a0001c0001t0001g0036 a0001c0001t0001g0037 others(85): Show |
88 | HG00099.hp2 HG00280.hp1 HG00408.hp2 others(85): Show |
intron_variant | MODIFIER | c.2380+7444_2380+744 others(6): Show |
EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 22/23 | chr19 | 16369676 | |||||||
| chr19:16369676 | AGTGT | A | 6 | a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0165 others(3): Show |
6 | HG00544.hp2 NA18945.hp1 NA18950.hp1 others(3): Show |
intron_variant | MODIFIER | c.2380+7442_2380+744 others(8): Show |
EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 22/23 | chr19 | 16369676 | |||||||
| chr19:16370158 | G | A | 2 | a0001c0001t0001g0152 a0001c0001t0001g0153 |
2 | HG02559.hp2 HG03139.hp1 |
intron_variant | MODIFIER | c.2380+6964C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 22/23 | chr19 | 16370158 | |||||||
| chr19:16370239 | C | A | 1 | a0001c0001t0001g0166 | 1 | HG01167.hp2 | intron_variant | MODIFIER | c.2380+6883G>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 22/23 | chr19 | 16370239 | |||||||
| chr19:16370463 | C | T | 2 | a0001c0004t0001g0045 a0001c0004t0001g0046 |
2 | HG02886.hp2 NA20129.hp1 |
intron_variant | MODIFIER | c.2380+6659G>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 22/23 | chr19 | 16370463 | |||||||
| chr19:16370645 | C | G | 1 | a0001c0001t0001g0102 | 1 | NA18955.hp1 | intron_variant | MODIFIER | c.2380+6477G>C | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 22/23 | chr19 | 16370645 | |||||||
| chr19:16370697 | T | G | 1 | a0001c0005t0009g0257 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.2380+6425A>C | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 22/23 | chr19 | 16370697 | |||||||
| chr19:16370862 | G | T | 1 | a0001c0001t0001g0214 | 1 | HG01934.hp1 | intron_variant | MODIFIER | c.2380+6260C>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 22/23 | chr19 | 16370862 | |||||||
| chr19:16370905 | T | G | 1 | a0001c0001t0001g0151 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.2380+6217A>C | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 22/23 | chr19 | 16370905 | |||||||
| chr19:16370913 | C | G | 1 | a0001c0001t0001g0067 | 1 | HG00735.hp2 | intron_variant | MODIFIER | c.2380+6209G>C | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 22/23 | chr19 | 16370913 | |||||||
| chr19:16371536 | G | C | 1 | a0001c0001t0001g0136 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.2380+5586C>G | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 22/23 | chr19 | 16371536 | |||||||
| chr19:16371762 | T | TA | 65 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(62): Show |
65 | HG00280.hp2 HG00323.hp1 HG00408.hp1 others(62): Show |
intron_variant | MODIFIER | c.2380+5359dupT | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 22/23 | chr19 | 16371762 | |||||||
| chr19:16372002 | C | A | 6 | a0001c0001t0001g0148 a0001c0001t0001g0251 a0001c0001t0001g0252 others(3): Show |
6 | HG02257.hp2 HG02258.hp2 HG02922.hp1 others(3): Show |
intron_variant | MODIFIER | c.2380+5120G>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 22/23 | chr19 | 16372002 | |||||||
| chr19:16372578 | G | C | 1 | a0001c0001t0001g0112 | 1 | NA18747.hp1 | intron_variant | MODIFIER | c.2380+4544C>G | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 22/23 | chr19 | 16372578 | |||||||
| chr19:16372675 | G | A | 3 | a0001c0001t0001g0108 a0001c0001t0001g0234 a0001c0001t0001g0235 |
3 | HG00323.hp2 HG02293.hp2 HG04204.hp2 |
intron_variant | MODIFIER | c.2380+4447C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 22/23 | chr19 | 16372675 | |||||||
| chr19:16372837 | C | G | 3 | a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 |
3 | HG01071.hp1 HG01433.hp1 HG01943.hp1 |
intron_variant | MODIFIER | c.2380+4285G>C | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 22/23 | chr19 | 16372837 | |||||||
| chr19:16372949 | A | C | 1 | a0001c0001t0001g0116 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.2380+4173T>G | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 22/23 | chr19 | 16372949 | |||||||
| chr19:16373239 | C | G | 5 | a0001c0001t0001g0159 a0001c0001t0001g0192 a0001c0001t0001g0199 others(2): Show |
5 | HG02015.hp2 HG02027.hp2 NA18962.hp1 others(2): Show |
intron_variant | MODIFIER | c.2380+3883G>C | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 22/23 | chr19 | 16373239 | |||||||
| chr19:16373269 | G | A | 12 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(9): Show |
12 | HG01192.hp2 HG01261.hp1 HG01346.hp1 others(9): Show |
intron_variant | MODIFIER | c.2380+3853C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 22/23 | chr19 | 16373269 | |||||||
| chr19:16373481 | TA | T | 9 | a0001c0001t0001g0024 a0001c0001t0001g0125 a0001c0001t0001g0150 others(6): Show |
9 | HG01346.hp2 HG01934.hp1 HG02135.hp1 others(6): Show |
intron_variant | MODIFIER | c.2380+3640delT | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 22/23 | chr19 | 16373481 | |||||||
| chr19:16373607 | T | C | 3 | a0001c0001t0001g0005 a0001c0001t0001g0010 a0001c0001t0001g0011 |
3 | HG01346.hp1 HG02300.hp2 HG03017.hp2 |
intron_variant | MODIFIER | c.2380+3515A>G | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 22/23 | chr19 | 16373607 | |||||||
| chr19:16373628 | T | C | 1 | a0001c0001t0001g0225 | 1 | NA18612.hp2 | intron_variant | MODIFIER | c.2380+3494A>G | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 22/23 | chr19 | 16373628 | |||||||
| chr19:16373826 | A | G | 16 | a0001c0001t0001g0002 a0001c0001t0001g0050 a0001c0001t0001g0051 others(13): Show |
16 | HG00099.hp1 HG01496.hp2 HG02055.hp2 others(13): Show |
intron_variant | MODIFIER | c.2380+3296T>C | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 22/23 | chr19 | 16373826 | |||||||
| chr19:16373849 | G | A | 1 | a0001c0001t0001g0234 | 1 | HG04204.hp2 | intron_variant | MODIFIER | c.2380+3273C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 22/23 | chr19 | 16373849 | |||||||
| chr19:16374453 | A | G | 2 | a0001c0001t0001g0133 a0001c0001t0001g0134 |
2 | HG02630.hp2 HG02886.hp1 |
intron_variant | MODIFIER | c.2380+2669T>C | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 22/23 | chr19 | 16374453 | |||||||
| chr19:16374524 | G | A | 1 | a0001c0001t0001g0261 | 1 | HG04115.hp2 | intron_variant | MODIFIER | c.2380+2598C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 22/23 | chr19 | 16374524 | |||||||
| chr19:16374632 | G | A | 1 | a0001c0001t0001g0261 | 1 | HG04115.hp2 | intron_variant | MODIFIER | c.2380+2490C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 22/23 | chr19 | 16374632 | |||||||
| chr19:16374723 | G | C | 37 | a0001c0001t0001g0004 a0001c0001t0001g0022 a0001c0001t0001g0038 others(34): Show |
37 | HG00280.hp2 HG00323.hp1 HG00408.hp1 others(34): Show |
intron_variant | MODIFIER | c.2380+2399C>G | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 22/23 | chr19 | 16374723 | |||||||
| chr19:16374751 | C | A | 1 | a0001c0001t0001g0199 | 1 | HG02015.hp2 | intron_variant | MODIFIER | c.2380+2371G>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 22/23 | chr19 | 16374751 | |||||||
| chr19:16374822 | A | T | 1 | a0001c0001t0001g0199 | 1 | HG02015.hp2 | intron_variant | MODIFIER | c.2380+2300T>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 22/23 | chr19 | 16374822 | |||||||
| chr19:16374977 | T | C | 1 | a0001c0001t0001g0021 | 1 | HG03491.hp2 | intron_variant | MODIFIER | c.2380+2145A>G | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 22/23 | chr19 | 16374977 | |||||||
| chr19:16375018 | A | G | 179 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(176): Show |
179 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(176): Show |
intron_variant | MODIFIER | c.2380+2104T>C | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 22/23 | chr19 | 16375018 | |||||||
| chr19:16375050 | A | C | 2 | a0001c0001t0001g0099 a0001c0001t0001g0115 |
2 | NA18943.hp2 NA18995.hp1 |
intron_variant | MODIFIER | c.2380+2072T>G | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 22/23 | chr19 | 16375050 | |||||||
| chr19:16375200 | G | A | 15 | a0001c0001t0001g0001 a0001c0001t0001g0023 a0001c0001t0001g0024 others(12): Show |
15 | HG01109.hp2 HG02109.hp1 HG02572.hp2 others(12): Show |
intron_variant | MODIFIER | c.2380+1922C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 22/23 | chr19 | 16375200 | |||||||
| chr19:16375304 | A | C | 2 | a0001c0001t0001g0190 a0001c0001t0001g0216 |
2 | NA18955.hp2 NA18960.hp2 |
intron_variant | MODIFIER | c.2380+1818T>G | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 22/23 | chr19 | 16375304 | |||||||
| chr19:16375317 | C | T | 1 | a0001c0001t0001g0097 | 1 | HG01257.hp2 | intron_variant | MODIFIER | c.2380+1805G>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 22/23 | chr19 | 16375317 | |||||||
| chr19:16375382 | A | G | 2 | a0001c0001t0001g0197 a0001c0001t0001g0198 |
2 | HG02055.hp1 HG02622.hp1 |
intron_variant | MODIFIER | c.2380+1740T>C | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 22/23 | chr19 | 16375382 | |||||||
| chr19:16375407 | C | T | 1 | a0001c0001t0001g0044 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.2380+1715G>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 22/23 | chr19 | 16375407 | |||||||
| chr19:16375466 | A | ATG | 9 | a0001c0001t0001g0001 a0001c0001t0001g0033 a0001c0001t0001g0034 others(6): Show |
9 | HG02280.hp1 HG02559.hp2 HG02809.hp1 others(6): Show |
intron_variant | MODIFIER | c.2380+1654_2380+165 others(6): Show |
EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 22/23 | chr19 | 16375466 | |||||||
| chr19:16375466 | ATG | A | 163 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 others(160): Show |
163 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(160): Show |
intron_variant | MODIFIER | c.2380+1654_2380+165 others(6): Show |
EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 22/23 | chr19 | 16375466 | |||||||
| chr19:16375726 | A | T | 1 | a0001c0001t0001g0256 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.2380+1396T>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 22/23 | chr19 | 16375726 | |||||||
| chr19:16375739 | T | C | 5 | a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 others(2): Show |
5 | NA18949.hp2 NA18962.hp2 NA18971.hp2 others(2): Show |
intron_variant | MODIFIER | c.2380+1383A>G | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 22/23 | chr19 | 16375739 | |||||||
| chr19:16375750 | C | G | 1 | a0001c0001t0001g0271 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.2380+1372G>C | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 22/23 | chr19 | 16375750 | |||||||
| chr19:16375951 | C | G | 1 | a0001c0001t0001g0233 | 1 | HG03688.hp2 | intron_variant | MODIFIER | c.2380+1171G>C | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 22/23 | chr19 | 16375951 | |||||||
| chr19:16376384 | T | C | 206 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(203): Show |
206 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(203): Show |
intron_variant | MODIFIER | c.2380+738A>G | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 22/23 | chr19 | 16376384 | |||||||
| chr19:16376439 | C | T | 1 | a0001c0001t0001g0151 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.2380+683G>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 22/23 | chr19 | 16376439 | |||||||
| chr19:16376563 | C | G | 1 | a0001c0001t0001g0080 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.2380+559G>C | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 22/23 | chr19 | 16376563 | |||||||
| chr19:16376564 | C | G | 1 | a0001c0001t0001g0273 | 1 | NA19057.hp1 | intron_variant | MODIFIER | c.2380+558G>C | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 22/23 | chr19 | 16376564 | |||||||
| chr19:16376671 | T | C | 2 | a0001c0001t0001g0190 a0001c0001t0001g0216 |
2 | NA18955.hp2 NA18960.hp2 |
intron_variant | MODIFIER | c.2380+451A>G | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 22/23 | chr19 | 16376671 | |||||||
| chr19:16376828 | C | T | 2 | a0001c0001t0001g0028 a0001c0001t0001g0031 |
2 | HG02895.hp2 HG02897.hp2 |
intron_variant | MODIFIER | c.2380+294G>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 22/23 | chr19 | 16376828 | |||||||
| chr19:16376950 | G | A | 1 | a0001c0001t0001g0256 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.2380+172C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 22/23 | chr19 | 16376950 | |||||||
| chr19:16377094 | T | C | 68 | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 others(65): Show |
68 | HG00280.hp2 HG00323.hp1 HG00408.hp1 others(65): Show |
intron_variant | MODIFIER | c.2380+28A>G | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 22/23 | chr19 | 16377094 | |||||||
| chr19:16377510 | C | T | 5 | a0001c0001t0001g0002 a0001c0001t0001g0068 a0001c0001t0001g0069 others(2): Show |
5 | HG02109.hp2 HG02818.hp1 HG02976.hp1 others(2): Show |
intron_variant | MODIFIER | c.2248-256G>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 21/23 | chr19 | 16377510 | |||||||
| chr19:16377544 | C | T | 1 | a0001c0001t0001g0112 | 1 | NA18747.hp1 | intron_variant | MODIFIER | c.2248-290G>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 21/23 | chr19 | 16377544 | |||||||
| chr19:16377624 | G | A | 1 | a0001c0001t0001g0158 | 1 | HG00741.hp2 | intron_variant | MODIFIER | c.2248-370C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 21/23 | chr19 | 16377624 | |||||||
| chr19:16377884 | C | A | 1 | a0001c0001t0001g0049 | 1 | HG02083.hp1 | intron_variant | MODIFIER | c.2248-630G>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 21/23 | chr19 | 16377884 | |||||||
| chr19:16378120 | A | G | 1 | a0001c0001t0001g0211 | 1 | HG03492.hp2 | intron_variant | MODIFIER | c.2248-866T>C | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 21/23 | chr19 | 16378120 | |||||||
| chr19:16378192 | C | T | 1 | a0001c0001t0001g0233 | 1 | HG03688.hp2 | intron_variant | MODIFIER | c.2248-938G>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 21/23 | chr19 | 16378192 | |||||||
| chr19:16378368 | G | A | 1 | a0001c0001t0001g0215 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.2248-1114C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 21/23 | chr19 | 16378368 | |||||||
| chr19:16378427 | G | A | 19 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(16): Show |
19 | HG01192.hp2 HG01261.hp1 HG01346.hp1 others(16): Show |
intron_variant | MODIFIER | c.2248-1173C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 21/23 | chr19 | 16378427 | |||||||
| chr19:16378437 | G | C | 30 | a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0006 others(27): Show |
30 | HG01192.hp2 HG01261.hp1 HG01346.hp1 others(27): Show |
intron_variant | MODIFIER | c.2248-1183C>G | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 21/23 | chr19 | 16378437 | |||||||
| chr19:16378509 | G | C | 2 | a0001c0001t0001g0055 a0001c0001t0001g0117 |
2 | HG00323.hp1 HG00639.hp1 |
intron_variant | MODIFIER | c.2248-1255C>G | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 21/23 | chr19 | 16378509 | |||||||
| chr19:16378539 | C | A | 1 | a0001c0005t0009g0257 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.2248-1285G>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 21/23 | chr19 | 16378539 | |||||||
| chr19:16378636 | C | T | 15 | a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 others(12): Show |
15 | HG00099.hp1 HG00323.hp2 HG00735.hp2 others(12): Show |
intron_variant | MODIFIER | c.2248-1382G>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 21/23 | chr19 | 16378636 | |||||||
| chr19:16378662 | G | A | 3 | a0001c0001t0001g0068 a0001c0001t0001g0071 a0001c0001t0001g0072 |
3 | HG02109.hp2 HG02818.hp1 HG03540.hp2 |
intron_variant | MODIFIER | c.2248-1408C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 21/23 | chr19 | 16378662 | |||||||
| chr19:16378671 | G | A | 5 | a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 others(2): Show |
5 | HG01884.hp1 HG02615.hp1 HG02647.hp1 others(2): Show |
intron_variant | MODIFIER | c.2248-1417C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 21/23 | chr19 | 16378671 | |||||||
| chr19:16379026 | G | A | 1 | a0001c0001t0001g0170 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.2248-1772C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 21/23 | chr19 | 16379026 | |||||||
| chr19:16379029 | C | T | 7 | a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 others(4): Show |
7 | HG02280.hp1 HG02559.hp2 HG03139.hp1 others(4): Show |
intron_variant | MODIFIER | c.2248-1775G>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 21/23 | chr19 | 16379029 | |||||||
| chr19:16379030 | G | A | 2 | a0001c0004t0001g0045 a0001c0004t0001g0046 |
2 | HG02886.hp2 NA20129.hp1 |
intron_variant | MODIFIER | c.2248-1776C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 21/23 | chr19 | 16379030 | |||||||
| chr19:16379173 | C | T | 1 | a0001c0001t0001g0053 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.2248-1919G>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 21/23 | chr19 | 16379173 | |||||||
| chr19:16379236 | C | A | 1 | a0001c0001t0001g0140 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.2248-1982G>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 21/23 | chr19 | 16379236 | |||||||
| chr19:16379310 | T | TA | 5 | a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 others(2): Show |
5 | HG02257.hp2 HG02258.hp2 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.2248-2057dupT | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 21/23 | chr19 | 16379310 | |||||||
| chr19:16379350 | T | C | 1 | a0001c0001t0001g0144 | 1 | NA19068.hp2 | intron_variant | MODIFIER | c.2248-2096A>G | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 21/23 | chr19 | 16379350 | |||||||
| chr19:16379414 | C | A | 1 | a0001c0001t0001g0130 | 1 | HG01934.hp2 | intron_variant | MODIFIER | c.2248-2160G>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 21/23 | chr19 | 16379414 | |||||||
| chr19:16379445 | G | A | 4 | a0001c0001t0001g0087 a0001c0001t0001g0098 a0001c0001t0001g0100 others(1): Show |
4 | HG02155.hp1 NA18747.hp2 NA18940.hp2 others(1): Show |
intron_variant | MODIFIER | c.2248-2191C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 21/23 | chr19 | 16379445 | |||||||
| chr19:16379783 | A | C | 206 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(203): Show |
206 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(203): Show |
intron_variant | MODIFIER | c.2248-2529T>G | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 21/23 | chr19 | 16379783 | |||||||
| chr19:16379784 | G | T | 206 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(203): Show |
206 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(203): Show |
intron_variant | MODIFIER | c.2248-2530C>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 21/23 | chr19 | 16379784 | |||||||
| chr19:16379962 | G | A | 1 | a0001c0001t0001g0268 | 1 | NA18951.hp1 | intron_variant | MODIFIER | c.2248-2708C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 21/23 | chr19 | 16379962 | |||||||
| chr19:16380006 | T | C | 15 | a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 others(12): Show |
15 | HG00099.hp1 HG00323.hp2 HG00735.hp2 others(12): Show |
intron_variant | MODIFIER | c.2248-2752A>G | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 21/23 | chr19 | 16380006 | |||||||
| chr19:16380048 | A | G | 206 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(203): Show |
206 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(203): Show |
intron_variant | MODIFIER | c.2248-2794T>C | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 21/23 | chr19 | 16380048 | |||||||
| chr19:16380074 | C | T | 2 | a0001c0001t0001g0172 a0001c0001t0001g0230 |
2 | HG01884.hp2 HG03579.hp2 |
intron_variant | MODIFIER | c.2248-2820G>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 21/23 | chr19 | 16380074 | |||||||
| chr19:16380138 | C | T | 1 | a0001c0001t0001g0079 | 1 | NA19060.hp2 | intron_variant | MODIFIER | c.2248-2884G>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 21/23 | chr19 | 16380138 | |||||||
| chr19:16380315 | C | T | 5 | a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 others(2): Show |
5 | HG02257.hp2 HG02258.hp2 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.2248-3061G>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 21/23 | chr19 | 16380315 | |||||||
| chr19:16380353 | G | A | 7 | a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 others(4): Show |
7 | HG02280.hp1 HG02559.hp2 HG03139.hp1 others(4): Show |
intron_variant | MODIFIER | c.2248-3099C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 21/23 | chr19 | 16380353 | |||||||
| chr19:16380426 | C | T | 1 | a0001c0001t0001g0250 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.2248-3172G>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 21/23 | chr19 | 16380426 | |||||||
| chr19:16380524 | T | C | 1 | a0001c0001t0001g0038 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.2248-3270A>G | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 21/23 | chr19 | 16380524 | |||||||
| chr19:16380729 | G | A | 7 | a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 others(4): Show |
7 | HG02280.hp1 HG02559.hp2 HG03139.hp1 others(4): Show |
intron_variant | MODIFIER | c.2248-3475C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 21/23 | chr19 | 16380729 | |||||||
| chr19:16380738 | G | A | 121 | a0001c0001t0001g0003 a0001c0001t0001g0021 a0001c0001t0001g0039 others(118): Show |
121 | HG00099.hp2 HG00280.hp1 HG00408.hp2 others(118): Show |
intron_variant | MODIFIER | c.2248-3484C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 21/23 | chr19 | 16380738 | |||||||
| chr19:16381053 | C | T | 1 | a0001c0001t0001g0271 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.2248-3799G>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 21/23 | chr19 | 16381053 | |||||||
| chr19:16381128 | C | T | 1 | a0001c0001t0001g0136 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.2248-3874G>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 21/23 | chr19 | 16381128 | |||||||
| chr19:16381200 | A | T | 1 | a0001c0001t0001g0190 | 1 | NA18955.hp2 | intron_variant | MODIFIER | c.2247+3929T>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 21/23 | chr19 | 16381200 | |||||||
| chr19:16381337 | G | A | 205 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 others(202): Show |
205 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(202): Show |
intron_variant | MODIFIER | c.2247+3792C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 21/23 | chr19 | 16381337 | |||||||
| chr19:16381352 | C | T | 1 | a0001c0001t0001g0146 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.2247+3777G>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 21/23 | chr19 | 16381352 | |||||||
| chr19:16381401 | G | A | 1 | a0001c0001t0001g0148 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.2247+3728C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 21/23 | chr19 | 16381401 | |||||||
| chr19:16381615 | G | A | 1 | a0001c0001t0001g0175 | 1 | HG01070.hp1 | intron_variant | MODIFIER | c.2247+3514C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 21/23 | chr19 | 16381615 | |||||||
| chr19:16381627 | G | A | 16 | a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 others(13): Show |
16 | HG01934.hp2 HG02258.hp1 HG02451.hp2 others(13): Show |
intron_variant | MODIFIER | c.2247+3502C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 21/23 | chr19 | 16381627 | |||||||
| chr19:16381757 | T | G | 1 | a0001c0001t0001g0229 | 1 | NA19058.hp1 | intron_variant | MODIFIER | c.2247+3372A>C | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 21/23 | chr19 | 16381757 | |||||||
| chr19:16381792 | T | G | 2 | a0001c0001t0001g0151 a0001c0001t0001g0187 |
2 | HG02698.hp2 HG04228.hp1 |
intron_variant | MODIFIER | c.2247+3337A>C | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 21/23 | chr19 | 16381792 | |||||||
| chr19:16381822 | G | A | 1 | a0001c0001t0001g0021 | 1 | HG03491.hp2 | intron_variant | MODIFIER | c.2247+3307C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 21/23 | chr19 | 16381822 | |||||||
| chr19:16381913 | G | T | 3 | a0001c0001t0001g0147 a0001c0001t0001g0151 a0001c0001t0001g0187 |
3 | HG02698.hp2 HG03831.hp2 HG04228.hp1 |
intron_variant | MODIFIER | c.2247+3216C>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 21/23 | chr19 | 16381913 | |||||||
| chr19:16382002 | C | T | 1 | a0001c0001t0001g0172 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.2247+3127G>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 21/23 | chr19 | 16382002 | |||||||
| chr19:16382099 | G | C | 1 | a0001c0001t0001g0229 | 1 | NA19058.hp1 | intron_variant | MODIFIER | c.2247+3030C>G | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 21/23 | chr19 | 16382099 | |||||||
| chr19:16382100 | C | T | 1 | a0001c0001t0001g0229 | 1 | NA19058.hp1 | intron_variant | MODIFIER | c.2247+3029G>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 21/23 | chr19 | 16382100 | |||||||
| chr19:16382168 | T | C | 1 | a0001c0001t0001g0234 | 1 | HG04204.hp2 | intron_variant | MODIFIER | c.2247+2961A>G | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 21/23 | chr19 | 16382168 | |||||||
| chr19:16382202 | C | T | 1 | a0001c0001t0001g0086 | 1 | NA19067.hp2 | intron_variant | MODIFIER | c.2247+2927G>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 21/23 | chr19 | 16382202 | |||||||
| chr19:16382218 | C | T | 5 | a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 others(2): Show |
5 | HG02257.hp2 HG02258.hp2 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.2247+2911G>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 21/23 | chr19 | 16382218 | |||||||
| chr19:16382303 | C | T | 1 | a0001c0001t0001g0241 | 1 | NA19066.hp2 | intron_variant | MODIFIER | c.2247+2826G>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 21/23 | chr19 | 16382303 | |||||||
| chr19:16382655 | A | G | 1 | a0001c0001t0001g0013 | 1 | HG01978.hp1 | intron_variant | MODIFIER | c.2247+2474T>C | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 21/23 | chr19 | 16382655 | |||||||
| chr19:16382740 | T | A | 1 | a0001c0001t0001g0001 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.2247+2389A>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 21/23 | chr19 | 16382740 | |||||||
| chr19:16382791 | C | G | 1 | a0001c0001t0001g0159 | 1 | NA18962.hp1 | intron_variant | MODIFIER | c.2247+2338G>C | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 21/23 | chr19 | 16382791 | |||||||
| chr19:16382970 | A | G | 1 | a0001c0001t0001g0022 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.2247+2159T>C | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 21/23 | chr19 | 16382970 | |||||||
| chr19:16383213 | T | C | 1 | a0001c0001t0001g0256 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.2247+1916A>G | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 21/23 | chr19 | 16383213 | |||||||
| chr19:16383309 | C | T | 1 | a0001c0001t0001g0097 | 1 | HG01257.hp2 | intron_variant | MODIFIER | c.2247+1820G>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 21/23 | chr19 | 16383309 | |||||||
| chr19:16383342 | C | T | 3 | a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0125 |
3 | HG01070.hp2 HG01071.hp2 HG02922.hp2 |
intron_variant | MODIFIER | c.2247+1787G>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 21/23 | chr19 | 16383342 | |||||||
| chr19:16383458 | A | T | 19 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(16): Show |
19 | HG01192.hp2 HG01261.hp1 HG01346.hp1 others(16): Show |
intron_variant | MODIFIER | c.2247+1671T>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 21/23 | chr19 | 16383458 | |||||||
| chr19:16383641 | C | G | 1 | a0001c0001t0001g0038 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.2247+1488G>C | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 21/23 | chr19 | 16383641 | |||||||
| chr19:16383852 | C | T | 6 | a0001c0001t0001g0196 a0001c0001t0001g0206 a0001c0001t0001g0207 others(3): Show |
6 | HG00558.hp2 HG00621.hp2 NA18940.hp1 others(3): Show |
intron_variant | MODIFIER | c.2247+1277G>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 21/23 | chr19 | 16383852 | |||||||
| chr19:16384082 | C | G | 1 | a0001c0001t0001g0012 | 1 | HG01928.hp2 | intron_variant | MODIFIER | c.2247+1047G>C | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 21/23 | chr19 | 16384082 | |||||||
| chr19:16384106 | C | T | 1 | a0001c0001t0001g0224 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.2247+1023G>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 21/23 | chr19 | 16384106 | |||||||
| chr19:16384168 | GC | G | 14 | a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 others(11): Show |
14 | HG00099.hp1 HG00323.hp2 HG00735.hp2 others(11): Show |
intron_variant | MODIFIER | c.2247+960delG | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 21/23 | chr19 | 16384168 | |||||||
| chr19:16384403 | C | T | 8 | a0001c0001t0001g0175 a0001c0001t0001g0181 a0001c0001t0001g0182 others(5): Show |
8 | HG00735.hp1 HG01070.hp1 HG01071.hp1 others(5): Show |
intron_variant | MODIFIER | c.2247+726G>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 21/23 | chr19 | 16384403 | |||||||
| chr19:16384476 | A | G | 37 | a0001c0001t0001g0004 a0001c0001t0001g0022 a0001c0001t0001g0038 others(34): Show |
37 | HG00280.hp2 HG00323.hp1 HG00408.hp1 others(34): Show |
intron_variant | MODIFIER | c.2247+653T>C | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 21/23 | chr19 | 16384476 | |||||||
| chr19:16384521 | G | A | 1 | a0001c0001t0001g0165 | 1 | NA18945.hp1 | intron_variant | MODIFIER | c.2247+608C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 21/23 | chr19 | 16384521 | |||||||
| chr19:16384624 | C | T | 5 | a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 others(2): Show |
5 | HG02257.hp2 HG02258.hp2 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.2247+505G>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 21/23 | chr19 | 16384624 | |||||||
| chr19:16384730 | T | C | 39 | a0001c0001t0001g0004 a0001c0001t0001g0022 a0001c0001t0001g0038 others(36): Show |
39 | HG00280.hp2 HG00323.hp1 HG00408.hp1 others(36): Show |
intron_variant | MODIFIER | c.2247+399A>G | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 21/23 | chr19 | 16384730 | |||||||
| chr19:16384749 | G | A | 7 | a0001c0001t0001g0002 a0001c0001t0001g0068 a0001c0001t0001g0069 others(4): Show |
7 | HG02109.hp2 HG02280.hp2 HG02818.hp1 others(4): Show |
intron_variant | MODIFIER | c.2247+380C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 21/23 | chr19 | 16384749 | |||||||
| chr19:16384866 | G | A | 1 | a0001c0005t0009g0257 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.2247+263C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 21/23 | chr19 | 16384866 | |||||||
| chr19:16384922 | T | C | 1 | a0001c0001t0004g0113 | 1 | HG02683.hp2 | intron_variant | MODIFIER | c.2247+207A>G | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 21/23 | chr19 | 16384922 | |||||||
| chr19:16384963 | A | C | 137 | a0001c0001t0001g0003 a0001c0001t0001g0021 a0001c0001t0001g0039 others(134): Show |
137 | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(134): Show |
intron_variant | MODIFIER | c.2247+166T>G | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 21/23 | chr19 | 16384963 | |||||||
| chr19:16385104 | C | T | 1 | a0001c0002t0001g0221 | 1 | HG01192.hp1 | intron_variant | MODIFIER | c.2247+25G>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 21/23 | chr19 | 16385104 | |||||||
| chr19:16385450 | T | C | 1 | a0001c0001t0001g0038 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.2165-239A>G | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 20/23 | chr19 | 16385450 | |||||||
| chr19:16385525 | G | A | 2 | a0001c0001t0001g0197 a0001c0001t0001g0198 |
2 | HG02055.hp1 HG02622.hp1 |
intron_variant | MODIFIER | c.2165-314C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 20/23 | chr19 | 16385525 | |||||||
| chr19:16385678 | C | G | 1 | a0001c0005t0009g0257 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.2165-467G>C | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 20/23 | chr19 | 16385678 | |||||||
| chr19:16385697 | C | T | 44 | a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0006 others(41): Show |
44 | HG00099.hp1 HG00323.hp2 HG00735.hp2 others(41): Show |
intron_variant | MODIFIER | c.2164+474G>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 20/23 | chr19 | 16385697 | |||||||
| chr19:16385789 | G | A | 6 | a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0036 others(3): Show |
6 | HG02280.hp1 HG02559.hp2 HG03139.hp1 others(3): Show |
intron_variant | MODIFIER | c.2164+382C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 20/23 | chr19 | 16385789 | |||||||
| chr19:16385935 | A | G | 1 | a0001c0001t0001g0009 | 1 | NA18992.hp2 | intron_variant | MODIFIER | c.2164+236T>C | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 20/23 | chr19 | 16385935 | |||||||
| chr19:16385981 | G | A | 120 | a0001c0001t0001g0003 a0001c0001t0001g0021 a0001c0001t0001g0039 others(117): Show |
120 | HG00099.hp2 HG00280.hp1 HG00408.hp2 others(117): Show |
intron_variant | MODIFIER | c.2164+190C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 20/23 | chr19 | 16385981 | |||||||
| chr19:16386270 | G | A | 1 | a0001c0001t0001g0003 | 1 | HG02155.hp2 | intron_variant | MODIFIER | c.2104-39C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 19/23 | chr19 | 16386270 | |||||||
| chr19:16386325 | T | G | 1 | a0001c0001t0001g0097 | 1 | HG01257.hp2 | intron_variant | MODIFIER | c.2104-94A>C | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 19/23 | chr19 | 16386325 | |||||||
| chr19:16386561 | C | T | 1 | a0001c0001t0001g0188 | 1 | HG03704.hp1 | intron_variant | MODIFIER | c.2104-330G>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 19/23 | chr19 | 16386561 | |||||||
| chr19:16386628 | T | C | 1 | a0001c0001t0001g0075 | 1 | NA18961.hp1 | intron_variant | MODIFIER | c.2104-397A>G | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 19/23 | chr19 | 16386628 | |||||||
| chr19:16386672 | G | A | 14 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(11): Show |
14 | HG01192.hp2 HG01261.hp1 HG01346.hp1 others(11): Show |
intron_variant | MODIFIER | c.2104-441C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 19/23 | chr19 | 16386672 | |||||||
| chr19:16386784 | T | A | 1 | a0001c0001t0001g0228 | 1 | HG03831.hp1 | intron_variant | MODIFIER | c.2104-553A>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 19/23 | chr19 | 16386784 | |||||||
| chr19:16386785 | G | A | 1 | a0001c0001t0001g0228 | 1 | HG03831.hp1 | intron_variant | MODIFIER | c.2104-554C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 19/23 | chr19 | 16386785 | |||||||
| chr19:16386786 | T | G | 1 | a0001c0001t0001g0228 | 1 | HG03831.hp1 | intron_variant | MODIFIER | c.2104-555A>C | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 19/23 | chr19 | 16386786 | |||||||
| chr19:16386788 | G | A | 1 | a0001c0001t0001g0228 | 1 | HG03831.hp1 | intron_variant | MODIFIER | c.2104-557C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 19/23 | chr19 | 16386788 | |||||||
| chr19:16387302 | A | T | 2 | a0001c0004t0001g0045 a0001c0004t0001g0046 |
2 | HG02886.hp2 NA20129.hp1 |
intron_variant | MODIFIER | c.2104-1071T>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 19/23 | chr19 | 16387302 | |||||||
| chr19:16387529 | C | A | 1 | a0001c0001t0001g0229 | 1 | NA19058.hp1 | intron_variant | MODIFIER | c.2104-1298G>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 19/23 | chr19 | 16387529 | |||||||
| chr19:16387607 | G | C | 205 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 others(202): Show |
205 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(202): Show |
intron_variant | MODIFIER | c.2104-1376C>G | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 19/23 | chr19 | 16387607 | |||||||
| chr19:16387690 | C | G | 1 | a0001c0001t0001g0038 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.2104-1459G>C | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 19/23 | chr19 | 16387690 | |||||||
| chr19:16387752 | C | A | 1 | a0001c0001t0001g0135 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.2104-1521G>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 19/23 | chr19 | 16387752 | |||||||
| chr19:16387782 | A | C | 19 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(16): Show |
19 | HG01192.hp2 HG01261.hp1 HG01346.hp1 others(16): Show |
intron_variant | MODIFIER | c.2104-1551T>G | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 19/23 | chr19 | 16387782 | |||||||
| chr19:16387904 | A | G | 14 | a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 others(11): Show |
14 | HG00099.hp1 HG00323.hp2 HG00735.hp2 others(11): Show |
intron_variant | MODIFIER | c.2104-1673T>C | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 19/23 | chr19 | 16387904 | |||||||
| chr19:16388418 | A | G | 1 | a0001c0001t0001g0123 | 1 | NA18967.hp2 | intron_variant | MODIFIER | c.2104-2187T>C | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 19/23 | chr19 | 16388418 | |||||||
| chr19:16388428 | C | A | 2 | a0001c0001t0001g0172 a0001c0001t0001g0230 |
2 | HG01884.hp2 HG03579.hp2 |
intron_variant | MODIFIER | c.2104-2197G>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 19/23 | chr19 | 16388428 | |||||||
| chr19:16388584 | T | C | 19 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(16): Show |
19 | HG01192.hp2 HG01261.hp1 HG01346.hp1 others(16): Show |
intron_variant | MODIFIER | c.2104-2353A>G | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 19/23 | chr19 | 16388584 | |||||||
| chr19:16388758 | C | T | 157 | a0001c0001t0001g0003 a0001c0001t0001g0021 a0001c0001t0001g0022 others(154): Show |
157 | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(154): Show |
intron_variant | MODIFIER | c.2104-2527G>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 19/23 | chr19 | 16388758 | |||||||
| chr19:16389014 | C | T | 1 | a0001c0001t0001g0256 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.2104-2783G>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 19/23 | chr19 | 16389014 | |||||||
| chr19:16389087 | G | A | 1 | a0001c0001t0001g0234 | 1 | HG04204.hp2 | intron_variant | MODIFIER | c.2104-2856C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 19/23 | chr19 | 16389087 | |||||||
| chr19:16389112 | G | A | 1 | a0001c0001t0001g0090 | 1 | HG00741.hp1 | intron_variant | MODIFIER | c.2104-2881C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 19/23 | chr19 | 16389112 | |||||||
| chr19:16389126 | T | C | 229 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(226): Show |
229 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(226): Show |
intron_variant | MODIFIER | c.2104-2895A>G | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 19/23 | chr19 | 16389126 | |||||||
| chr19:16389611 | A | G | 1 | a0001c0001t0001g0235 | 1 | HG02293.hp2 | intron_variant | MODIFIER | c.2103+2693T>C | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 19/23 | chr19 | 16389611 | |||||||
| chr19:16390022 | T | C | 32 | a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0006 others(29): Show |
32 | HG01192.hp2 HG01261.hp1 HG01346.hp1 others(29): Show |
intron_variant | MODIFIER | c.2103+2282A>G | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 19/23 | chr19 | 16390022 | |||||||
| chr19:16390194 | A | G | 123 | a0001c0001t0001g0003 a0001c0001t0001g0021 a0001c0001t0001g0039 others(120): Show |
123 | HG00099.hp2 HG00280.hp1 HG00408.hp2 others(120): Show |
intron_variant | MODIFIER | c.2103+2110T>C | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 19/23 | chr19 | 16390194 | |||||||
| chr19:16390305 | G | A | 1 | a0001c0001t0001g0188 | 1 | HG03704.hp1 | intron_variant | MODIFIER | c.2103+1999C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 19/23 | chr19 | 16390305 | |||||||
| chr19:16390426 | C | T | 16 | a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 others(13): Show |
16 | HG01934.hp2 HG02258.hp1 HG02451.hp2 others(13): Show |
intron_variant | MODIFIER | c.2103+1878G>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 19/23 | chr19 | 16390426 | |||||||
| chr19:16390489 | T | C | 1 | a0001c0005t0009g0257 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.2103+1815A>G | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 19/23 | chr19 | 16390489 | |||||||
| chr19:16390584 | T | C | 19 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(16): Show |
19 | HG01192.hp2 HG01261.hp1 HG01346.hp1 others(16): Show |
intron_variant | MODIFIER | c.2103+1720A>G | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 19/23 | chr19 | 16390584 | |||||||
| chr19:16390835 | T | C | 2 | a0001c0001t0001g0039 a0001c0001t0001g0040 |
2 | HG01070.hp2 HG01071.hp2 |
intron_variant | MODIFIER | c.2103+1469A>G | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 19/23 | chr19 | 16390835 | |||||||
| chr19:16391490 | G | A | 2 | a0001c0001t0001g0091 a0001c0001t0001g0092 |
2 | HG02129.hp2 NA18612.hp1 |
intron_variant | MODIFIER | c.2103+814C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 19/23 | chr19 | 16391490 | |||||||
| chr19:16391505 | G | A | 1 | a0001c0001t0001g0189 | 1 | HG02148.hp1 | intron_variant | MODIFIER | c.2103+799C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 19/23 | chr19 | 16391505 | |||||||
| chr19:16391622 | C | CT | 78 | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 others(75): Show |
78 | HG00280.hp2 HG00323.hp1 HG00408.hp1 others(75): Show |
intron_variant | MODIFIER | c.2103+681dupA | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 19/23 | chr19 | 16391622 | |||||||
| chr19:16391811 | A | G | 68 | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 others(65): Show |
68 | HG00280.hp2 HG00323.hp1 HG00408.hp1 others(65): Show |
intron_variant | MODIFIER | c.2103+493T>C | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 19/23 | chr19 | 16391811 | |||||||
| chr19:16391814 | C | T | 1 | a0001c0005t0009g0257 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.2103+490G>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 19/23 | chr19 | 16391814 | |||||||
| chr19:16391833 | C | T | 1 | a0001c0005t0009g0257 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.2103+471G>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 19/23 | chr19 | 16391833 | |||||||
| chr19:16391838 | C | T | 1 | a0001c0001t0001g0044 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.2103+466G>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 19/23 | chr19 | 16391838 | |||||||
| chr19:16391913 | G | A | 15 | a0001c0001t0001g0001 a0001c0001t0001g0023 a0001c0001t0001g0024 others(12): Show |
15 | HG01109.hp2 HG02109.hp1 HG02572.hp2 others(12): Show |
intron_variant | MODIFIER | c.2103+391C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 19/23 | chr19 | 16391913 | |||||||
| chr19:16392168 | C | T | 1 | a0001c0001t0001g0094 | 1 | HG00544.hp1 | intron_variant | MODIFIER | c.2103+136G>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 19/23 | chr19 | 16392168 | |||||||
| chr19:16392648 | C | T | 1 | a0001c0001t0001g0097 | 1 | HG01257.hp2 | intron_variant | MODIFIER | c.1967-208G>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 18/23 | chr19 | 16392648 | |||||||
| chr19:16392755 | A | G | 1 | a0001c0001t0001g0256 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.1967-315T>C | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 18/23 | chr19 | 16392755 | |||||||
| chr19:16392957 | G | T | 1 | a0001c0001t0001g0074 | 1 | NA19079.hp1 | intron_variant | MODIFIER | c.1967-517C>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 18/23 | chr19 | 16392957 | |||||||
| chr19:16392991 | A | C | 1 | a0001c0001t0001g0170 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.1967-551T>G | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 18/23 | chr19 | 16392991 | |||||||
| chr19:16393023 | T | G | 1 | a0001c0001t0001g0231 | 1 | NA18998.hp1 | intron_variant | MODIFIER | c.1967-583A>C | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 18/23 | chr19 | 16393023 | |||||||
| chr19:16393035 | C | T | 2 | a0001c0004t0001g0045 a0001c0004t0001g0046 |
2 | HG02886.hp2 NA20129.hp1 |
intron_variant | MODIFIER | c.1967-595G>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 18/23 | chr19 | 16393035 | |||||||
| chr19:16393048 | A | C | 53 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(50): Show |
53 | HG00099.hp1 HG00099.hp2 HG00741.hp1 others(50): Show |
intron_variant | MODIFIER | c.1967-608T>G | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 18/23 | chr19 | 16393048 | |||||||
| chr19:16393077 | T | TATA | 12 | a0001c0001t0001g0024 a0001c0001t0001g0028 a0001c0001t0001g0031 others(9): Show |
12 | HG02135.hp2 HG02622.hp1 HG02630.hp1 others(9): Show |
intron_variant | MODIFIER | c.1967-640_1967-638d others(5): Show |
EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 18/23 | chr19 | 16393077 | |||||||
| chr19:16393077 | T | TATAATA | 3 | a0001c0001t0001g0030 a0001c0001t0001g0036 a0001c0001t0001g0099 |
3 | HG02280.hp1 HG02572.hp2 NA18943.hp2 |
intron_variant | MODIFIER | c.1967-643_1967-638d others(8): Show |
EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 18/23 | chr19 | 16393077 | |||||||
| chr19:16393077 | TATA | T | 14 | a0001c0001t0001g0077 a0001c0001t0001g0082 a0001c0001t0001g0091 others(11): Show |
14 | HG00423.hp1 HG00544.hp1 HG01109.hp2 others(11): Show |
intron_variant | MODIFIER | c.1967-640_1967-638d others(5): Show |
EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 18/23 | chr19 | 16393077 | |||||||
| chr19:16393077 | TATAATA | T | 8 | a0001c0001t0001g0119 a0001c0001t0001g0130 a0001c0001t0001g0161 others(5): Show |
8 | HG00099.hp2 HG01243.hp1 HG01884.hp1 others(5): Show |
intron_variant | MODIFIER | c.1967-643_1967-638d others(8): Show |
EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 18/23 | chr19 | 16393077 | |||||||
| chr19:16393077 | TATAATAA others(2): Show |
T | 33 | a0001c0001t0001g0027 a0001c0001t0001g0050 a0001c0001t0001g0051 others(30): Show |
33 | HG00099.hp1 HG00609.hp1 HG01243.hp2 others(30): Show |
intron_variant | MODIFIER | c.1967-646_1967-638d others(11): Show |
EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 18/23 | chr19 | 16393077 | |||||||
| chr19:16393077 | TATAATAA others(5): Show |
T | 120 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0014 others(117): Show |
120 | HG00280.hp1 HG00323.hp2 HG00408.hp1 others(117): Show |
intron_variant | MODIFIER | c.1967-649_1967-638d others(14): Show |
EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 18/23 | chr19 | 16393077 | |||||||
| chr19:16393077 | TATAATAA others(8): Show |
T | 57 | a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0006 others(54): Show |
57 | HG00280.hp2 HG00323.hp1 HG00423.hp2 others(54): Show |
intron_variant | MODIFIER | c.1967-652_1967-638d others(17): Show |
EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 18/23 | chr19 | 16393077 | |||||||
| chr19:16393077 | TATAATAA others(11): Show |
T | 1 | a0001c0001t0001g0044 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.1967-655_1967-638d others(20): Show |
EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 18/23 | chr19 | 16393077 | |||||||
| chr19:16393077 | TATAATAA others(14): Show |
T | 3 | a0001c0001t0001g0131 a0001c0001t0001g0140 a0001c0001t0001g0195 |
3 | HG03579.hp1 HG06807.hp2 NA20300.hp2 |
intron_variant | MODIFIER | c.1967-658_1967-638d others(23): Show |
EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 18/23 | chr19 | 16393077 | |||||||
| chr19:16393153 | G | C | 6 | a0001c0001t0001g0137 a0001c0001t0001g0251 a0001c0001t0001g0252 others(3): Show |
6 | HG02257.hp2 HG02258.hp1 HG02258.hp2 others(3): Show |
intron_variant | MODIFIER | c.1967-713C>G | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 18/23 | chr19 | 16393153 | |||||||
| chr19:16393219 | G | T | 2 | a0001c0001t0001g0250 a0001c0001t0001g0256 |
2 | HG02976.hp2 NA19240.hp1 |
intron_variant | MODIFIER | c.1966+732C>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 18/23 | chr19 | 16393219 | |||||||
| chr19:16393356 | A | G | 1 | a0001c0001t0001g0100 | 1 | NA19085.hp2 | intron_variant | MODIFIER | c.1966+595T>C | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 18/23 | chr19 | 16393356 | |||||||
| chr19:16393366 | G | T | 1 | a0001c0001t0001g0230 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.1966+585C>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 18/23 | chr19 | 16393366 | |||||||
| chr19:16393486 | A | G | 5 | a0001c0001t0001g0167 a0001c0001t0001g0203 a0001c0001t0001g0205 others(2): Show |
5 | HG01074.hp1 HG01978.hp2 HG01981.hp2 others(2): Show |
intron_variant | MODIFIER | c.1966+465T>C | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 18/23 | chr19 | 16393486 | |||||||
| chr19:16393515 | A | G | 5 | a0001c0001t0001g0167 a0001c0001t0001g0203 a0001c0001t0001g0205 others(2): Show |
5 | HG01074.hp1 HG01978.hp2 HG01981.hp2 others(2): Show |
intron_variant | MODIFIER | c.1966+436T>C | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 18/23 | chr19 | 16393515 | |||||||
| chr19:16393529 | G | A | 6 | a0001c0001t0001g0167 a0001c0001t0001g0203 a0001c0001t0001g0205 others(3): Show |
6 | HG01074.hp1 HG01934.hp1 HG01978.hp2 others(3): Show |
intron_variant | MODIFIER | c.1966+422C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 18/23 | chr19 | 16393529 | |||||||
| chr19:16393541 | T | C | 119 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(116): Show |
119 | HG00099.hp1 HG00323.hp2 HG00408.hp1 others(116): Show |
intron_variant | MODIFIER | c.1966+410A>G | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 18/23 | chr19 | 16393541 | |||||||
| chr19:16393566 | G | A | 2 | a0001c0001t0001g0253 a0001c0001t0001g0254 |
2 | HG02257.hp2 HG03453.hp2 |
intron_variant | MODIFIER | c.1966+385C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 18/23 | chr19 | 16393566 | |||||||
| chr19:16393574 | G | A | 1 | a0001c0001t0001g0230 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.1966+377C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 18/23 | chr19 | 16393574 | |||||||
| chr19:16393581 | G | A | 1 | a0001c0001t0001g0215 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.1966+370C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 18/23 | chr19 | 16393581 | |||||||
| chr19:16393598 | G | A | 1 | a0001c0001t0001g0013 | 1 | HG01978.hp1 | intron_variant | MODIFIER | c.1966+353C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 18/23 | chr19 | 16393598 | |||||||
| chr19:16393606 | G | A | 3 | a0001c0001t0003g0274 a0001c0001t0003g0275 a0001c0001t0003g0276 |
3 | HG02451.hp1 HG02622.hp2 HG02717.hp1 |
intron_variant | MODIFIER | c.1966+345C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 18/23 | chr19 | 16393606 | |||||||
| chr19:16393654 | A | T | 2 | a0001c0004t0001g0045 a0001c0004t0001g0046 |
2 | HG02886.hp2 NA20129.hp1 |
intron_variant | MODIFIER | c.1966+297T>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 18/23 | chr19 | 16393654 | |||||||
| chr19:16393656 | A | T | 4 | a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 others(1): Show |
4 | HG02258.hp1 HG02809.hp2 HG02896.hp1 others(1): Show |
intron_variant | MODIFIER | c.1966+295T>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 18/23 | chr19 | 16393656 | |||||||
| chr19:16393658 | A | T | 7 | a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0251 others(4): Show |
7 | HG02257.hp2 HG02258.hp2 HG02922.hp1 others(4): Show |
intron_variant | MODIFIER | c.1966+293T>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 18/23 | chr19 | 16393658 | |||||||
| chr19:16393662 | A | T | 5 | a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 others(2): Show |
5 | HG02257.hp2 HG02258.hp2 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.1966+289T>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 18/23 | chr19 | 16393662 | |||||||
| chr19:16393663 | T | A | 12 | a0001c0001t0001g0178 a0001c0001t0001g0242 a0001c0001t0001g0243 others(9): Show |
12 | HG01167.hp1 HG02080.hp1 HG02257.hp1 others(9): Show |
intron_variant | MODIFIER | c.1966+288A>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 18/23 | chr19 | 16393663 | |||||||
| chr19:16393666 | A | T | 5 | a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 others(2): Show |
5 | HG02257.hp2 HG02258.hp2 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.1966+285T>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 18/23 | chr19 | 16393666 | |||||||
| chr19:16393670 | T | A | 2 | a0001c0001t0001g0247 a0001c0001t0001g0248 |
2 | HG02257.hp1 HG02559.hp1 |
intron_variant | MODIFIER | c.1966+281A>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 18/23 | chr19 | 16393670 | |||||||
| chr19:16393690 | T | A | 2 | a0001c0001t0001g0172 a0001c0001t0001g0230 |
2 | HG01884.hp2 HG03579.hp2 |
intron_variant | MODIFIER | c.1966+261A>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 18/23 | chr19 | 16393690 | |||||||
| chr19:16393691 | A | T | 2 | a0001c0001t0001g0172 a0001c0001t0001g0230 |
2 | HG01884.hp2 HG03579.hp2 |
intron_variant | MODIFIER | c.1966+260T>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 18/23 | chr19 | 16393691 | |||||||
| chr19:16393694 | A | T | 8 | a0001c0001t0001g0170 a0001c0001t0001g0250 a0001c0001t0001g0251 others(5): Show |
8 | HG01496.hp1 HG02257.hp2 HG02258.hp2 others(5): Show |
intron_variant | MODIFIER | c.1966+257T>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 18/23 | chr19 | 16393694 | |||||||
| chr19:16393695 | T | A | 8 | a0001c0001t0001g0170 a0001c0001t0001g0250 a0001c0001t0001g0251 others(5): Show |
8 | HG01496.hp1 HG02257.hp2 HG02258.hp2 others(5): Show |
intron_variant | MODIFIER | c.1966+256A>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 18/23 | chr19 | 16393695 | |||||||
| chr19:16393705 | A | C | 35 | a0001c0001t0001g0004 a0001c0001t0001g0022 a0001c0001t0001g0041 others(32): Show |
35 | HG00280.hp2 HG00323.hp1 HG00408.hp1 others(32): Show |
intron_variant | MODIFIER | c.1966+246T>G | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 18/23 | chr19 | 16393705 | |||||||
| chr19:16394043 | C | A | 6 | a0001c0001t0001g0189 a0001c0001t0001g0231 a0001c0001t0006g0163 others(3): Show |
6 | HG00408.hp2 HG02148.hp1 NA18950.hp1 others(3): Show |
intron_variant | MODIFIER | c.1916-42G>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 17/23 | chr19 | 16394043 | |||||||
| chr19:16394045 | G | A | 1 | a0001c0001t0001g0088 | 1 | HG02135.hp2 | intron_variant | MODIFIER | c.1916-44C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 17/23 | chr19 | 16394045 | |||||||
| chr19:16394047 | A | T | 1 | a0001c0001t0001g0088 | 1 | HG02135.hp2 | intron_variant | MODIFIER | c.1916-46T>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 17/23 | chr19 | 16394047 | |||||||
| chr19:16394295 | T | C | 153 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(150): Show |
153 | HG00099.hp1 HG00280.hp2 HG00323.hp1 others(150): Show |
intron_variant | MODIFIER | c.1916-294A>G | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 17/23 | chr19 | 16394295 | |||||||
| chr19:16394354 | T | TAAGAGGA others(15): Show |
20 | a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 others(17): Show |
20 | HG00099.hp1 HG00323.hp2 HG00735.hp2 others(17): Show |
intron_variant | MODIFIER | c.1916-375_1916-354d others(24): Show |
EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 17/23 | chr19 | 16394354 | |||||||
| chr19:16394396 | G | A | 1 | a0001c0001t0001g0226 | 1 | HG00621.hp1 | intron_variant | MODIFIER | c.1916-395C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 17/23 | chr19 | 16394396 | |||||||
| chr19:16394417 | C | T | 15 | a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 others(12): Show |
15 | HG00099.hp1 HG00323.hp2 HG00735.hp2 others(12): Show |
intron_variant | MODIFIER | c.1916-416G>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 17/23 | chr19 | 16394417 | |||||||
| chr19:16394564 | T | C | 1 | a0001c0001t0001g0245 | 1 | HG03710.hp1 | intron_variant | MODIFIER | c.1916-563A>G | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 17/23 | chr19 | 16394564 | |||||||
| chr19:16394708 | T | C | 1 | a0001c0001t0001g0169 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.1915+636A>G | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 17/23 | chr19 | 16394708 | |||||||
| chr19:16394860 | T | C | 15 | a0001c0001t0001g0001 a0001c0001t0001g0023 a0001c0001t0001g0024 others(12): Show |
15 | HG01109.hp2 HG02109.hp1 HG02572.hp2 others(12): Show |
intron_variant | MODIFIER | c.1915+484A>G | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 17/23 | chr19 | 16394860 | |||||||
| chr19:16394998 | T | C | 1 | a0001c0001t0001g0146 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.1915+346A>G | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 17/23 | chr19 | 16394998 | |||||||
| chr19:16395003 | T | C | 1 | a0001c0005t0009g0257 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.1915+341A>G | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 17/23 | chr19 | 16395003 | |||||||
| chr19:16395201 | C | CA | 8 | a0001c0001t0001g0108 a0001c0001t0001g0126 a0001c0001t0001g0127 others(5): Show |
8 | HG00323.hp2 HG01167.hp2 HG01433.hp1 others(5): Show |
intron_variant | MODIFIER | c.1915+142dupT | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 17/23 | chr19 | 16395201 | |||||||
| chr19:16395201 | CA | C | 33 | a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 others(30): Show |
33 | HG00280.hp2 HG00323.hp1 HG00423.hp2 others(30): Show |
intron_variant | MODIFIER | c.1915+142delT | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 17/23 | chr19 | 16395201 | |||||||
| chr19:16395556 | C | T | 1 | a0001c0001t0001g0271 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.1792-89G>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 16/23 | chr19 | 16395556 | |||||||
| chr19:16395594 | G | A | 2 | a0001c0004t0001g0045 a0001c0004t0001g0046 |
2 | HG02886.hp2 NA20129.hp1 |
intron_variant | MODIFIER | c.1792-127C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 16/23 | chr19 | 16395594 | |||||||
| chr19:16395793 | A | C | 3 | a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0165 |
3 | NA18945.hp1 NA18966.hp2 NA18967.hp2 |
intron_variant | MODIFIER | c.1792-326T>G | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 16/23 | chr19 | 16395793 | |||||||
| chr19:16395872 | G | A | 1 | a0001c0001t0001g0037 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.1792-405C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 16/23 | chr19 | 16395872 | |||||||
| chr19:16395909 | C | T | 1 | a0001c0001t0001g0044 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.1792-442G>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 16/23 | chr19 | 16395909 | |||||||
| chr19:16395934 | G | GTGAGAT | 184 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(181): Show |
184 | HG00099.hp1 HG00280.hp2 HG00323.hp1 others(181): Show |
intron_variant | MODIFIER | c.1792-468_1792-467i others(8): Show |
EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 16/23 | chr19 | 16395934 | |||||||
| chr19:16395936 | C | A | 184 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(181): Show |
184 | HG00099.hp1 HG00280.hp2 HG00323.hp1 others(181): Show |
intron_variant | MODIFIER | c.1792-469G>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 16/23 | chr19 | 16395936 | |||||||
| chr19:16395942 | C | CA | 19 | a0001c0001t0001g0002 a0001c0001t0001g0027 a0001c0001t0001g0034 others(16): Show |
19 | HG00609.hp1 HG01981.hp2 HG02109.hp2 others(16): Show |
intron_variant | MODIFIER | c.1792-476dupT | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 16/23 | chr19 | 16395942 | |||||||
| chr19:16395942 | CA | C | 6 | a0001c0001t0001g0022 a0001c0001t0001g0253 a0001c0001t0001g0254 others(3): Show |
6 | HG02257.hp2 HG02895.hp1 HG03453.hp2 others(3): Show |
intron_variant | MODIFIER | c.1792-476delT | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 16/23 | chr19 | 16395942 | |||||||
| chr19:16396132 | T | C | 1 | a0001c0001t0001g0260 | 1 | HG02602.hp2 | intron_variant | MODIFIER | c.1792-665A>G | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 16/23 | chr19 | 16396132 | |||||||
| chr19:16396329 | A | G | 55 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(52): Show |
55 | HG00280.hp2 HG00323.hp1 HG00408.hp1 others(52): Show |
intron_variant | MODIFIER | c.1792-862T>C | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 16/23 | chr19 | 16396329 | |||||||
| chr19:16396412 | C | T | 2 | a0001c0004t0001g0045 a0001c0004t0001g0046 |
2 | HG02886.hp2 NA20129.hp1 |
intron_variant | MODIFIER | c.1792-945G>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 16/23 | chr19 | 16396412 | |||||||
| chr19:16396526 | C | T | 1 | a0001c0001t0001g0235 | 1 | HG02293.hp2 | intron_variant | MODIFIER | c.1792-1059G>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 16/23 | chr19 | 16396526 | |||||||
| chr19:16396674 | G | A | 1 | a0001c0001t0001g0101 | 1 | NA18999.hp1 | intron_variant | MODIFIER | c.1792-1207C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 16/23 | chr19 | 16396674 | |||||||
| chr19:16396687 | T | G | 1 | a0001c0001t0001g0250 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.1792-1220A>C | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 16/23 | chr19 | 16396687 | |||||||
| chr19:16396778 | A | G | 5 | a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 others(2): Show |
5 | HG02257.hp2 HG02258.hp2 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.1792-1311T>C | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 16/23 | chr19 | 16396778 | |||||||
| chr19:16396803 | C | T | 1 | a0001c0001t0001g0250 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.1792-1336G>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 16/23 | chr19 | 16396803 | |||||||
| chr19:16396911 | A | G | 4 | a0001c0001t0001g0067 a0001c0001t0001g0108 a0001c0001t0001g0234 others(1): Show |
4 | HG00323.hp2 HG00735.hp2 HG02293.hp2 others(1): Show |
intron_variant | MODIFIER | c.1792-1444T>C | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 16/23 | chr19 | 16396911 | |||||||
| chr19:16396952 | G | C | 1 | a0001c0001t0001g0083 | 1 | HG00609.hp2 | intron_variant | MODIFIER | c.1792-1485C>G | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 16/23 | chr19 | 16396952 | |||||||
| chr19:16397075 | G | A | 1 | a0001c0001t0001g0001 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.1792-1608C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 16/23 | chr19 | 16397075 | |||||||
| chr19:16397370 | G | A | 1 | a0001c0001t0001g0225 | 1 | NA18612.hp2 | intron_variant | MODIFIER | c.1792-1903C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 16/23 | chr19 | 16397370 | |||||||
| chr19:16397382 | G | A | 5 | a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 others(2): Show |
5 | HG02257.hp2 HG02258.hp2 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.1792-1915C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 16/23 | chr19 | 16397382 | |||||||
| chr19:16397419 | A | G | 8 | a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 others(5): Show |
8 | HG02280.hp1 HG02559.hp2 HG03139.hp1 others(5): Show |
intron_variant | MODIFIER | c.1792-1952T>C | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 16/23 | chr19 | 16397419 | |||||||
| chr19:16397556 | T | G | 1 | a0001c0001t0007g0114 | 1 | NA18992.hp1 | intron_variant | MODIFIER | c.1792-2089A>C | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 16/23 | chr19 | 16397556 | |||||||
| chr19:16397696 | T | A | 31 | a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 others(28): Show |
31 | HG00280.hp2 HG00323.hp1 HG00423.hp2 others(28): Show |
intron_variant | MODIFIER | c.1792-2229A>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 16/23 | chr19 | 16397696 | |||||||
| chr19:16397732 | A | C | 7 | a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 others(4): Show |
7 | HG00280.hp2 HG00733.hp1 HG01167.hp1 others(4): Show |
intron_variant | MODIFIER | c.1792-2265T>G | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 16/23 | chr19 | 16397732 | |||||||
| chr19:16397930 | T | C | 1 | a0001c0001t0001g0021 | 1 | HG03491.hp2 | intron_variant | MODIFIER | c.1792-2463A>G | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 16/23 | chr19 | 16397930 | |||||||
| chr19:16398183 | A | G | 1 | a0001c0005t0009g0257 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.1792-2716T>C | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 16/23 | chr19 | 16398183 | |||||||
| chr19:16398249 | T | G | 7 | a0001c0001t0001g0002 a0001c0001t0001g0038 a0001c0001t0001g0068 others(4): Show |
7 | HG02109.hp2 HG02818.hp1 HG02976.hp1 others(4): Show |
intron_variant | MODIFIER | c.1792-2782A>C | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 16/23 | chr19 | 16398249 | |||||||
| chr19:16398431 | G | T | 1 | a0001c0005t0009g0257 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.1792-2964C>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 16/23 | chr19 | 16398431 | |||||||
| chr19:16398673 | A | C | 1 | a0001c0001t0001g0161 | 1 | HG00099.hp2 | intron_variant | MODIFIER | c.1792-3206T>G | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 16/23 | chr19 | 16398673 | |||||||
| chr19:16398737 | A | G | 1 | a0001c0001t0001g0129 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.1792-3270T>C | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 16/23 | chr19 | 16398737 | |||||||
| chr19:16398768 | A | C | 1 | a0001c0001t0001g0175 | 1 | HG01070.hp1 | intron_variant | MODIFIER | c.1792-3301T>G | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 16/23 | chr19 | 16398768 | |||||||
| chr19:16398889 | C | T | 2 | a0001c0004t0001g0045 a0001c0004t0001g0046 |
2 | HG02886.hp2 NA20129.hp1 |
intron_variant | MODIFIER | c.1792-3422G>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 16/23 | chr19 | 16398889 | |||||||
| chr19:16398994 | G | GT | 34 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(31): Show |
34 | HG00099.hp1 HG00323.hp2 HG00735.hp1 others(31): Show |
intron_variant | MODIFIER | c.1791+3326dupA | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 16/23 | chr19 | 16398994 | |||||||
| chr19:16399391 | G | A | 1 | a0001c0001t0002g0056 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.1791+2930C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 16/23 | chr19 | 16399391 | |||||||
| chr19:16399468 | C | T | 66 | a0001c0001t0001g0001 a0001c0001t0001g0023 a0001c0001t0001g0024 others(63): Show |
66 | HG00423.hp1 HG00544.hp1 HG00609.hp2 others(63): Show |
intron_variant | MODIFIER | c.1791+2853G>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 16/23 | chr19 | 16399468 | |||||||
| chr19:16399550 | G | C | 1 | a0001c0001t0001g0044 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.1791+2771C>G | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 16/23 | chr19 | 16399550 | |||||||
| chr19:16399681 | G | GT | 26 | a0001c0001t0001g0004 a0001c0001t0001g0014 a0001c0001t0001g0041 others(23): Show |
26 | HG00280.hp2 HG00408.hp1 HG00423.hp2 others(23): Show |
intron_variant | MODIFIER | c.1791+2639dupA | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 16/23 | chr19 | 16399681 | |||||||
| chr19:16399703 | T | C | 1 | a0001c0001t0004g0113 | 1 | HG02683.hp2 | intron_variant | MODIFIER | c.1791+2618A>G | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 16/23 | chr19 | 16399703 | |||||||
| chr19:16399759 | C | G | 2 | a0001c0001t0001g0172 a0001c0001t0001g0230 |
2 | HG01884.hp2 HG03579.hp2 |
intron_variant | MODIFIER | c.1791+2562G>C | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 16/23 | chr19 | 16399759 | |||||||
| chr19:16399780 | C | T | 2 | a0001c0001t0001g0050 a0001c0001t0001g0051 |
2 | NA18971.hp2 NA18998.hp2 |
intron_variant | MODIFIER | c.1791+2541G>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 16/23 | chr19 | 16399780 | |||||||
| chr19:16399975 | T | C | 7 | a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 others(4): Show |
7 | HG00280.hp2 HG00733.hp1 HG01167.hp1 others(4): Show |
intron_variant | MODIFIER | c.1791+2346A>G | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 16/23 | chr19 | 16399975 | |||||||
| chr19:16400054 | T | G | 19 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(16): Show |
19 | HG01192.hp2 HG01261.hp1 HG01346.hp1 others(16): Show |
intron_variant | MODIFIER | c.1791+2267A>C | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 16/23 | chr19 | 16400054 | |||||||
| chr19:16400088 | G | A | 6 | a0001c0001t0001g0189 a0001c0001t0001g0231 a0001c0001t0006g0163 others(3): Show |
6 | HG00408.hp2 HG02148.hp1 NA18950.hp1 others(3): Show |
intron_variant | MODIFIER | c.1791+2233C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 16/23 | chr19 | 16400088 | |||||||
| chr19:16400208 | G | A | 3 | a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0125 |
3 | HG01070.hp2 HG01071.hp2 HG02922.hp2 |
intron_variant | MODIFIER | c.1791+2113C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 16/23 | chr19 | 16400208 | |||||||
| chr19:16400264 | G | A | 2 | a0001c0001t0001g0131 a0001c0001t0001g0140 |
2 | HG03579.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.1791+2057C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 16/23 | chr19 | 16400264 | |||||||
| chr19:16400336 | C | CAAAAAAA others(3): Show |
1 | a0001c0001t0001g0011 | 1 | HG03017.hp2 | intron_variant | MODIFIER | c.1791+1975_1791+198 others(14): Show |
EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 16/23 | chr19 | 16400336 | |||||||
| chr19:16400336 | C | CAAAAAAA others(4): Show |
4 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0010 others(1): Show |
4 | HG01346.hp1 HG01943.hp2 HG01981.hp1 others(1): Show |
intron_variant | MODIFIER | c.1791+1974_1791+198 others(15): Show |
EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 16/23 | chr19 | 16400336 | |||||||
| chr19:16400336 | C | CAAAAAAA others(5): Show |
5 | a0001c0001t0001g0009 a0001c0001t0001g0012 a0001c0001t0001g0014 others(2): Show |
5 | HG01192.hp2 HG01261.hp1 HG01928.hp2 others(2): Show |
intron_variant | MODIFIER | c.1791+1973_1791+198 others(16): Show |
EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 16/23 | chr19 | 16400336 | |||||||
| chr19:16400336 | C | CAAAAAAA others(6): Show |
2 | a0001c0001t0001g0007 a0001c0001t0001g0013 |
2 | HG01952.hp2 HG01978.hp1 |
intron_variant | MODIFIER | c.1791+1972_1791+198 others(17): Show |
EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 16/23 | chr19 | 16400336 | |||||||
| chr19:16400336 | C | CAAAAAAA others(11): Show |
1 | a0001c0001t0001g0008 | 1 | HG02148.hp2 | intron_variant | MODIFIER | c.1791+1984_1791+198 others(22): Show |
EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 16/23 | chr19 | 16400336 | |||||||
| chr19:16400350 | C | A | 19 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(16): Show |
19 | HG01192.hp2 HG01261.hp1 HG01346.hp1 others(16): Show |
intron_variant | MODIFIER | c.1791+1971G>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 16/23 | chr19 | 16400350 | |||||||
| chr19:16400356 | C | A | 22 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(19): Show |
22 | HG01192.hp2 HG01261.hp1 HG01346.hp1 others(19): Show |
intron_variant | MODIFIER | c.1791+1965G>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 16/23 | chr19 | 16400356 | |||||||
| chr19:16400359 | A | C | 8 | a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 others(5): Show |
8 | HG02280.hp1 HG02559.hp2 HG03139.hp1 others(5): Show |
intron_variant | MODIFIER | c.1791+1962T>G | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 16/23 | chr19 | 16400359 | |||||||
| chr19:16400360 | A | C | 66 | a0001c0001t0001g0004 a0001c0001t0001g0022 a0001c0001t0001g0041 others(63): Show |
66 | HG00099.hp1 HG00280.hp2 HG00323.hp1 others(63): Show |
intron_variant | MODIFIER | c.1791+1961T>G | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 16/23 | chr19 | 16400360 | |||||||
| chr19:16400361 | A | C | 8 | a0001c0001t0001g0026 a0001c0001t0001g0098 a0001c0001t0001g0131 others(5): Show |
8 | HG02155.hp1 HG02572.hp1 HG02886.hp2 others(5): Show |
intron_variant | MODIFIER | c.1791+1960T>G | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 16/23 | chr19 | 16400361 | |||||||
| chr19:16400362 | A | C | 8 | a0001c0001t0001g0002 a0001c0001t0001g0068 a0001c0001t0001g0069 others(5): Show |
8 | HG00609.hp1 HG02109.hp2 HG02818.hp1 others(5): Show |
intron_variant | MODIFIER | c.1791+1959T>G | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 16/23 | chr19 | 16400362 | |||||||
| chr19:16400372 | C | A | 21 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(18): Show |
21 | HG01192.hp2 HG01261.hp1 HG01346.hp1 others(18): Show |
intron_variant | MODIFIER | c.1791+1949G>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 16/23 | chr19 | 16400372 | |||||||
| chr19:16400458 | C | T | 1 | a0001c0001t0001g0191 | 1 | HG02602.hp1 | intron_variant | MODIFIER | c.1791+1863G>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 16/23 | chr19 | 16400458 | |||||||
| chr19:16400715 | T | C | 2 | a0001c0001t0001g0006 a0001c0001t0001g0017 |
2 | HG01943.hp2 HG01981.hp1 |
intron_variant | MODIFIER | c.1791+1606A>G | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 16/23 | chr19 | 16400715 | |||||||
| chr19:16400875 | C | T | 5 | a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 others(2): Show |
5 | HG02257.hp2 HG02258.hp2 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.1791+1446G>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 16/23 | chr19 | 16400875 | |||||||
| chr19:16401094 | A | G | 1 | a0001c0001t0001g0160 | 1 | HG03927.hp1 | intron_variant | MODIFIER | c.1791+1227T>C | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 16/23 | chr19 | 16401094 | |||||||
| chr19:16401125 | C | T | 1 | a0001c0001t0001g0079 | 1 | NA19060.hp2 | intron_variant | MODIFIER | c.1791+1196G>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 16/23 | chr19 | 16401125 | |||||||
| chr19:16401148 | T | C | 1 | a0001c0001t0001g0270 | 1 | HG00558.hp2 | intron_variant | MODIFIER | c.1791+1173A>G | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 16/23 | chr19 | 16401148 | |||||||
| chr19:16401322 | G | A | 2 | a0001c0001t0001g0096 a0001c0001t0007g0114 |
2 | HG02015.hp1 NA18992.hp1 |
intron_variant | MODIFIER | c.1791+999C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 16/23 | chr19 | 16401322 | |||||||
| chr19:16401332 | AAGC | A | 19 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(16): Show |
19 | HG01192.hp2 HG01261.hp1 HG01346.hp1 others(16): Show |
intron_variant | MODIFIER | c.1791+986_1791+988d others(5): Show |
EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 16/23 | chr19 | 16401332 | |||||||
| chr19:16401364 | T | C | 1 | a0001c0001t0001g0250 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.1791+957A>G | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 16/23 | chr19 | 16401364 | |||||||
| chr19:16401390 | TTCCAGGG others(11): Show |
T | 1 | a0001c0001t0001g0044 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.1791+913_1791+930d others(20): Show |
EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 16/23 | chr19 | 16401390 | |||||||
| chr19:16401452 | G | C | 1 | a0001c0001t0001g0090 | 1 | HG00741.hp1 | intron_variant | MODIFIER | c.1791+869C>G | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 16/23 | chr19 | 16401452 | |||||||
| chr19:16401671 | A | G | 15 | a0001c0001t0001g0001 a0001c0001t0001g0023 a0001c0001t0001g0024 others(12): Show |
15 | HG01109.hp2 HG02109.hp1 HG02572.hp2 others(12): Show |
intron_variant | MODIFIER | c.1791+650T>C | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 16/23 | chr19 | 16401671 | |||||||
| chr19:16401704 | G | A | 7 | a0001c0001t0001g0002 a0001c0001t0001g0038 a0001c0001t0001g0068 others(4): Show |
7 | HG02109.hp2 HG02818.hp1 HG02976.hp1 others(4): Show |
intron_variant | MODIFIER | c.1791+617C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 16/23 | chr19 | 16401704 | |||||||
| chr19:16401878 | C | T | 1 | a0001c0001t0001g0131 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.1791+443G>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 16/23 | chr19 | 16401878 | |||||||
| chr19:16402024 | C | T | 263 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(260): Show |
263 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(260): Show |
intron_variant | MODIFIER | c.1791+297G>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 16/23 | chr19 | 16402024 | |||||||
| chr19:16402251 | G | A | 1 | a0001c0005t0009g0257 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.1791+70C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 16/23 | chr19 | 16402251 | |||||||
| chr19:16402546 | C | CT | 8 | a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 others(5): Show |
8 | HG02257.hp2 HG02258.hp1 HG02258.hp2 others(5): Show |
intron_variant | MODIFIER | c.1627-62dupA | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 15/23 | chr19 | 16402546 | |||||||
| chr19:16402546 | CT | C | 31 | a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 others(28): Show |
31 | HG00280.hp2 HG00323.hp1 HG00423.hp2 others(28): Show |
intron_variant | MODIFIER | c.1627-62delA | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 15/23 | chr19 | 16402546 | |||||||
| chr19:16402604 | T | C | 7 | a0001c0001t0001g0002 a0001c0001t0001g0038 a0001c0001t0001g0068 others(4): Show |
7 | HG02109.hp2 HG02818.hp1 HG02976.hp1 others(4): Show |
intron_variant | MODIFIER | c.1627-119A>G | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 15/23 | chr19 | 16402604 | |||||||
| chr19:16402753 | T | A | 2 | a0001c0001t0001g0099 a0001c0001t0001g0115 |
2 | NA18943.hp2 NA18995.hp1 |
intron_variant | MODIFIER | c.1627-268A>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 15/23 | chr19 | 16402753 | |||||||
| chr19:16402892 | A | G | 8 | a0001c0001t0001g0175 a0001c0001t0001g0181 a0001c0001t0001g0182 others(5): Show |
8 | HG00735.hp1 HG01070.hp1 HG01071.hp1 others(5): Show |
intron_variant | MODIFIER | c.1627-407T>C | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 15/23 | chr19 | 16402892 | |||||||
| chr19:16403007 | G | A | 4 | a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 others(1): Show |
4 | HG01884.hp1 HG02615.hp1 HG02647.hp1 others(1): Show |
intron_variant | MODIFIER | c.1627-522C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 15/23 | chr19 | 16403007 | |||||||
| chr19:16403020 | G | A | 15 | a0001c0001t0001g0013 a0001c0001t0001g0050 a0001c0001t0001g0051 others(12): Show |
15 | HG00099.hp1 HG00323.hp2 HG00735.hp2 others(12): Show |
intron_variant | MODIFIER | c.1627-535C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 15/23 | chr19 | 16403020 | |||||||
| chr19:16403093 | T | G | 1 | a0001c0001t0001g0054 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.1627-608A>C | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 15/23 | chr19 | 16403093 | |||||||
| chr19:16403235 | C | T | 1 | a0001c0001t0001g0270 | 1 | HG00558.hp2 | intron_variant | MODIFIER | c.1626+498G>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 15/23 | chr19 | 16403235 | |||||||
| chr19:16403245 | G | C | 1 | a0001c0001t0001g0176 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.1626+488C>G | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 15/23 | chr19 | 16403245 | |||||||
| chr19:16403290 | C | T | 15 | a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 others(12): Show |
15 | HG01934.hp2 HG02258.hp1 HG02451.hp2 others(12): Show |
intron_variant | MODIFIER | c.1626+443G>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 15/23 | chr19 | 16403290 | |||||||
| chr19:16403960 | A | G | 175 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(172): Show |
175 | HG00099.hp1 HG00280.hp2 HG00323.hp1 others(172): Show |
intron_variant | MODIFIER | c.1429-30T>C | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 14/23 | chr19 | 16403960 | |||||||
| chr19:16404147 | C | T | 1 | a0001c0001t0001g0054 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.1429-217G>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 14/23 | chr19 | 16404147 | |||||||
| chr19:16404187 | C | T | 6 | a0001c0001t0001g0189 a0001c0001t0001g0231 a0001c0001t0006g0163 others(3): Show |
6 | HG00408.hp2 HG02148.hp1 NA18950.hp1 others(3): Show |
intron_variant | MODIFIER | c.1429-257G>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 14/23 | chr19 | 16404187 | |||||||
| chr19:16404357 | G | A | 1 | a0001c0007t0008g0048 | 1 | HG02027.hp1 | intron_variant | MODIFIER | c.1428+231C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 14/23 | chr19 | 16404357 | |||||||
| chr19:16404406 | G | A | 5 | a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 others(2): Show |
5 | HG02257.hp2 HG02258.hp2 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.1428+182C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 14/23 | chr19 | 16404406 | |||||||
| chr19:16404406 | G | C | 6 | a0001c0001t0001g0013 a0001c0001t0001g0050 a0001c0001t0001g0051 others(3): Show |
6 | HG01978.hp1 NA18949.hp2 NA18962.hp2 others(3): Show |
intron_variant | MODIFIER | c.1428+182C>G | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 14/23 | chr19 | 16404406 | |||||||
| chr19:16404517 | G | A | 1 | a0001c0001t0001g0224 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.1428+71C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 14/23 | chr19 | 16404517 | |||||||
| chr19:16404518 | A | G | 4 | a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 others(1): Show |
4 | HG01884.hp1 HG02615.hp1 HG02647.hp1 others(1): Show |
intron_variant | MODIFIER | c.1428+70T>C | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 14/23 | chr19 | 16404518 | |||||||
| chr19:16404550 | G | A | 1 | a0001c0005t0009g0257 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.1428+38C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 14/23 | chr19 | 16404550 | |||||||
| chr19:16404569 | G | A | 2 | a0001c0001t0001g0202 a0001c0001t0001g0212 |
2 | HG01928.hp1 NA20752.hp1 |
intron_variant | MODIFIER | c.1428+19C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 14/23 | chr19 | 16404569 | |||||||
| chr19:16404959 | C | G | 2 | a0001c0001t0001g0173 a0001c0001t0001g0174 |
2 | HG03491.hp1 HG03492.hp1 |
intron_variant | MODIFIER | c.1267-210G>C | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 13/23 | chr19 | 16404959 | |||||||
| chr19:16405266 | G | C | 1 | a0001c0001t0001g0053 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.1267-517C>G | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 13/23 | chr19 | 16405266 | |||||||
| chr19:16405335 | C | T | 6 | a0001c0001t0001g0002 a0001c0001t0001g0068 a0001c0001t0001g0069 others(3): Show |
6 | HG02109.hp2 HG02818.hp1 HG02976.hp1 others(3): Show |
intron_variant | MODIFIER | c.1267-586G>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 13/23 | chr19 | 16405335 | |||||||
| chr19:16405399 | G | A | 15 | a0001c0001t0001g0001 a0001c0001t0001g0023 a0001c0001t0001g0024 others(12): Show |
15 | HG01109.hp2 HG02109.hp1 HG02572.hp2 others(12): Show |
intron_variant | MODIFIER | c.1267-650C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 13/23 | chr19 | 16405399 | |||||||
| chr19:16405818 | C | T | 1 | a0001c0001t0001g0002 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.1267-1069G>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 13/23 | chr19 | 16405818 | |||||||
| chr19:16405932 | C | T | 33 | a0001c0001t0001g0022 a0001c0001t0001g0041 a0001c0001t0001g0042 others(30): Show |
33 | HG00280.hp2 HG00323.hp1 HG00423.hp2 others(30): Show |
intron_variant | MODIFIER | c.1267-1183G>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 13/23 | chr19 | 16405932 | |||||||
| chr19:16405982 | G | C | 1 | a0001c0001t0001g0104 | 1 | NA18945.hp2 | intron_variant | MODIFIER | c.1267-1233C>G | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 13/23 | chr19 | 16405982 | |||||||
| chr19:16405996 | C | A | 1 | a0001c0001t0001g0160 | 1 | HG03927.hp1 | intron_variant | MODIFIER | c.1267-1247G>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 13/23 | chr19 | 16405996 | |||||||
| chr19:16406245 | C | T | 1 | a0001c0001t0001g0026 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.1267-1496G>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 13/23 | chr19 | 16406245 | |||||||
| chr19:16406292 | TGGAG | T | 19 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(16): Show |
19 | HG01192.hp2 HG01261.hp1 HG01346.hp1 others(16): Show |
intron_variant | MODIFIER | c.1267-1547_1267-154 others(8): Show |
EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 13/23 | chr19 | 16406292 | |||||||
| chr19:16406369 | A | G | 5 | a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 others(2): Show |
5 | HG02257.hp2 HG02258.hp2 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.1267-1620T>C | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 13/23 | chr19 | 16406369 | |||||||
| chr19:16406563 | C | T | 45 | a0001c0001t0001g0004 a0001c0001t0001g0074 a0001c0001t0001g0075 others(42): Show |
45 | HG00408.hp1 HG00423.hp1 HG00544.hp1 others(42): Show |
intron_variant | MODIFIER | c.1267-1814G>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 13/23 | chr19 | 16406563 | |||||||
| chr19:16406669 | A | G | 1 | a0001c0001t0001g0191 | 1 | HG02602.hp1 | intron_variant | MODIFIER | c.1267-1920T>C | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 13/23 | chr19 | 16406669 | |||||||
| chr19:16406709 | C | T | 19 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(16): Show |
19 | HG01192.hp2 HG01261.hp1 HG01346.hp1 others(16): Show |
intron_variant | MODIFIER | c.1267-1960G>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 13/23 | chr19 | 16406709 | |||||||
| chr19:16406887 | C | T | 4 | a0001c0001t0001g0116 a0001c0001t0001g0173 a0001c0001t0001g0174 others(1): Show |
4 | HG01243.hp2 HG03491.hp1 HG03492.hp1 others(1): Show |
intron_variant | MODIFIER | c.1267-2138G>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 13/23 | chr19 | 16406887 | |||||||
| chr19:16407032 | G | A | 1 | a0001c0001t0001g0252 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.1267-2283C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 13/23 | chr19 | 16407032 | |||||||
| chr19:16407085 | C | T | 2 | a0001c0001t0001g0250 a0001c0001t0001g0256 |
2 | HG02976.hp2 NA19240.hp1 |
intron_variant | MODIFIER | c.1267-2336G>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 13/23 | chr19 | 16407085 | |||||||
| chr19:16407134 | T | C | 6 | a0001c0001t0001g0002 a0001c0001t0001g0068 a0001c0001t0001g0069 others(3): Show |
6 | HG02109.hp2 HG02818.hp1 HG02976.hp1 others(3): Show |
intron_variant | MODIFIER | c.1267-2385A>G | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 13/23 | chr19 | 16407134 | |||||||
| chr19:16407150 | C | A | 1 | a0001c0001t0001g0112 | 1 | NA18747.hp1 | intron_variant | MODIFIER | c.1267-2401G>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 13/23 | chr19 | 16407150 | |||||||
| chr19:16407211 | T | C | 2 | a0001c0001t0001g0250 a0001c0001t0001g0256 |
2 | HG02976.hp2 NA19240.hp1 |
intron_variant | MODIFIER | c.1267-2462A>G | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 13/23 | chr19 | 16407211 | |||||||
| chr19:16407309 | A | AT | 6 | a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0162 others(3): Show |
6 | HG00544.hp2 NA18945.hp1 NA18950.hp2 others(3): Show |
intron_variant | MODIFIER | c.1267-2561dupA | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 13/23 | chr19 | 16407309 | |||||||
| chr19:16407643 | A | T | 1 | a0001c0001t0001g0075 | 1 | NA18961.hp1 | intron_variant | MODIFIER | c.1267-2894T>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 13/23 | chr19 | 16407643 | |||||||
| chr19:16407820 | C | T | 1 | a0001c0001t0001g0214 | 1 | HG01934.hp1 | intron_variant | MODIFIER | c.1267-3071G>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 13/23 | chr19 | 16407820 | |||||||
| chr19:16407831 | G | A | 12 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(9): Show |
12 | HG01192.hp2 HG01261.hp1 HG01346.hp1 others(9): Show |
intron_variant | MODIFIER | c.1267-3082C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 13/23 | chr19 | 16407831 | |||||||
| chr19:16407938 | C | T | 2 | a0001c0001t0001g0250 a0001c0001t0001g0256 |
2 | HG02976.hp2 NA19240.hp1 |
intron_variant | MODIFIER | c.1267-3189G>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 13/23 | chr19 | 16407938 | |||||||
| chr19:16408079 | G | A | 1 | a0001c0001t0001g0145 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.1267-3330C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 13/23 | chr19 | 16408079 | |||||||
| chr19:16408085 | C | A | 1 | a0001c0001t0001g0099 | 1 | NA18943.hp2 | intron_variant | MODIFIER | c.1267-3336G>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 13/23 | chr19 | 16408085 | |||||||
| chr19:16408094 | G | A | 8 | a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 others(5): Show |
8 | HG02280.hp1 HG02559.hp2 HG03139.hp1 others(5): Show |
intron_variant | MODIFIER | c.1267-3345C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 13/23 | chr19 | 16408094 | |||||||
| chr19:16408111 | G | C | 12 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(9): Show |
12 | HG01192.hp2 HG01261.hp1 HG01346.hp1 others(9): Show |
intron_variant | MODIFIER | c.1267-3362C>G | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 13/23 | chr19 | 16408111 | |||||||
| chr19:16408171 | C | G | 19 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(16): Show |
19 | HG01192.hp2 HG01261.hp1 HG01346.hp1 others(16): Show |
intron_variant | MODIFIER | c.1267-3422G>C | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 13/23 | chr19 | 16408171 | |||||||
| chr19:16408223 | C | G | 1 | a0001c0001t0001g0256 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.1267-3474G>C | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 13/23 | chr19 | 16408223 | |||||||
| chr19:16408234 | A | G | 156 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(153): Show |
156 | HG00099.hp1 HG00280.hp2 HG00323.hp1 others(153): Show |
intron_variant | MODIFIER | c.1267-3485T>C | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 13/23 | chr19 | 16408234 | |||||||
| chr19:16408252 | C | T | 1 | a0001c0001t0001g0179 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.1267-3503G>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 13/23 | chr19 | 16408252 | |||||||
| chr19:16408454 | TAAAATAC others(29): Show |
T | 19 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(16): Show |
19 | HG01192.hp2 HG01261.hp1 HG01346.hp1 others(16): Show |
intron_variant | MODIFIER | c.1267-3741_1267-370 others(40): Show |
EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 13/23 | chr19 | 16408454 | |||||||
| chr19:16408459 | T | C | 2 | a0001c0001t0001g0096 a0001c0001t0007g0114 |
2 | HG02015.hp1 NA18992.hp1 |
intron_variant | MODIFIER | c.1267-3710A>G | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 13/23 | chr19 | 16408459 | |||||||
| chr19:16408464 | ATTTGTAA others(21): Show |
A | 1 | a0001c0001t0001g0213 | 1 | HG00544.hp2 | intron_variant | MODIFIER | c.1267-3743_1267-371 others(32): Show |
EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 13/23 | chr19 | 16408464 | |||||||
| chr19:16408491 | A | C | 19 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(16): Show |
19 | HG01192.hp2 HG01261.hp1 HG01346.hp1 others(16): Show |
intron_variant | MODIFIER | c.1267-3742T>G | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 13/23 | chr19 | 16408491 | |||||||
| chr19:16408493 | T | C | 19 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(16): Show |
19 | HG01192.hp2 HG01261.hp1 HG01346.hp1 others(16): Show |
intron_variant | MODIFIER | c.1267-3744A>G | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 13/23 | chr19 | 16408493 | |||||||
| chr19:16408495 | T | A | 19 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(16): Show |
19 | HG01192.hp2 HG01261.hp1 HG01346.hp1 others(16): Show |
intron_variant | MODIFIER | c.1267-3746A>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 13/23 | chr19 | 16408495 | |||||||
| chr19:16408496 | G | C | 19 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(16): Show |
19 | HG01192.hp2 HG01261.hp1 HG01346.hp1 others(16): Show |
intron_variant | MODIFIER | c.1267-3747C>G | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 13/23 | chr19 | 16408496 | |||||||
| chr19:16408530 | C | A | 33 | a0001c0001t0001g0022 a0001c0001t0001g0041 a0001c0001t0001g0042 others(30): Show |
33 | HG00280.hp2 HG00323.hp1 HG00423.hp2 others(30): Show |
intron_variant | MODIFIER | c.1267-3781G>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 13/23 | chr19 | 16408530 | |||||||
| chr19:16408619 | C | T | 1 | a0001c0001t0001g0099 | 1 | NA18943.hp2 | intron_variant | MODIFIER | c.1267-3870G>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 13/23 | chr19 | 16408619 | |||||||
| chr19:16408676 | C | T | 19 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(16): Show |
19 | HG01192.hp2 HG01261.hp1 HG01346.hp1 others(16): Show |
intron_variant | MODIFIER | c.1267-3927G>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 13/23 | chr19 | 16408676 | |||||||
| chr19:16408725 | G | A | 19 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(16): Show |
19 | HG01192.hp2 HG01261.hp1 HG01346.hp1 others(16): Show |
intron_variant | MODIFIER | c.1267-3976C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 13/23 | chr19 | 16408725 | |||||||
| chr19:16408999 | A | AT | 4 | a0001c0001t0001g0089 a0001c0001t0001g0102 a0001c0001t0001g0103 others(1): Show |
4 | HG04184.hp2 NA18945.hp2 NA18955.hp1 others(1): Show |
intron_variant | MODIFIER | c.1267-4251dupA | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 13/23 | chr19 | 16408999 | |||||||
| chr19:16409060 | C | A | 169 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(166): Show |
169 | HG00099.hp1 HG00280.hp2 HG00323.hp1 others(166): Show |
intron_variant | MODIFIER | c.1267-4311G>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 13/23 | chr19 | 16409060 | |||||||
| chr19:16409247 | A | G | 15 | a0001c0001t0001g0001 a0001c0001t0001g0023 a0001c0001t0001g0024 others(12): Show |
15 | HG01109.hp2 HG02109.hp1 HG02572.hp2 others(12): Show |
intron_variant | MODIFIER | c.1267-4498T>C | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 13/23 | chr19 | 16409247 | |||||||
| chr19:16409592 | A | C | 35 | a0001c0001t0001g0004 a0001c0001t0001g0022 a0001c0001t0001g0041 others(32): Show |
35 | HG00280.hp2 HG00323.hp1 HG00408.hp1 others(32): Show |
intron_variant | MODIFIER | c.1266+4181T>G | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 13/23 | chr19 | 16409592 | |||||||
| chr19:16409664 | G | A | 1 | a0001c0001t0001g0224 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.1266+4109C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 13/23 | chr19 | 16409664 | |||||||
| chr19:16409685 | C | T | 4 | a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0031 others(1): Show |
4 | HG02572.hp2 HG02630.hp1 HG02895.hp2 others(1): Show |
intron_variant | MODIFIER | c.1266+4088G>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 13/23 | chr19 | 16409685 | |||||||
| chr19:16409797 | G | A | 1 | a0001c0001t0001g0251 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.1266+3976C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 13/23 | chr19 | 16409797 | |||||||
| chr19:16409932 | T | A | 1 | a0001c0005t0009g0257 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.1266+3841A>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 13/23 | chr19 | 16409932 | |||||||
| chr19:16409937 | C | CA | 11 | a0001c0001t0001g0026 a0001c0001t0001g0147 a0001c0001t0001g0160 others(8): Show |
11 | HG00735.hp1 HG01175.hp2 HG01261.hp2 others(8): Show |
intron_variant | MODIFIER | c.1266+3835dupT | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 13/23 | chr19 | 16409937 | |||||||
| chr19:16409937 | CA | C | 114 | a0001c0001t0001g0001 a0001c0001t0001g0021 a0001c0001t0001g0022 others(111): Show |
114 | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(111): Show |
intron_variant | MODIFIER | c.1266+3835delT | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 13/23 | chr19 | 16409937 | |||||||
| chr19:16409937 | CAA | C | 47 | a0001c0001t0001g0002 a0001c0001t0001g0036 a0001c0001t0001g0038 others(44): Show |
47 | HG00323.hp1 HG01070.hp2 HG01071.hp2 others(44): Show |
intron_variant | MODIFIER | c.1266+3834_1266+383 others(6): Show |
EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 13/23 | chr19 | 16409937 | |||||||
| chr19:16409937 | CAAA | C | 24 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(21): Show |
24 | HG01192.hp2 HG01261.hp1 HG01346.hp1 others(21): Show |
intron_variant | MODIFIER | c.1266+3833_1266+383 others(7): Show |
EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 13/23 | chr19 | 16409937 | |||||||
| chr19:16409963 | A | T | 6 | a0001c0001t0001g0002 a0001c0001t0001g0068 a0001c0001t0001g0069 others(3): Show |
6 | HG02109.hp2 HG02818.hp1 HG02976.hp1 others(3): Show |
intron_variant | MODIFIER | c.1266+3810T>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 13/23 | chr19 | 16409963 | |||||||
| chr19:16409976 | A | G | 1 | a0001c0005t0009g0257 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.1266+3797T>C | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 13/23 | chr19 | 16409976 | |||||||
| chr19:16409986 | T | C | 19 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(16): Show |
19 | HG01192.hp2 HG01261.hp1 HG01346.hp1 others(16): Show |
intron_variant | MODIFIER | c.1266+3787A>G | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 13/23 | chr19 | 16409986 | |||||||
| chr19:16410042 | G | T | 19 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(16): Show |
19 | HG01192.hp2 HG01261.hp1 HG01346.hp1 others(16): Show |
intron_variant | MODIFIER | c.1266+3731C>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 13/23 | chr19 | 16410042 | |||||||
| chr19:16410052 | T | G | 1 | a0001c0001t0001g0073 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.1266+3721A>C | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 13/23 | chr19 | 16410052 | |||||||
| chr19:16410133 | C | CA | 38 | a0001c0001t0001g0004 a0001c0001t0001g0041 a0001c0001t0001g0042 others(35): Show |
38 | HG00280.hp2 HG00323.hp1 HG00408.hp1 others(35): Show |
intron_variant | MODIFIER | c.1266+3639dupT | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 13/23 | chr19 | 16410133 | |||||||
| chr19:16410133 | C | CAAA | 6 | a0001c0001t0001g0002 a0001c0001t0001g0068 a0001c0001t0001g0069 others(3): Show |
6 | HG02109.hp2 HG02818.hp1 HG02976.hp1 others(3): Show |
intron_variant | MODIFIER | c.1266+3637_1266+363 others(7): Show |
EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 13/23 | chr19 | 16410133 | |||||||
| chr19:16410222 | A | G | 6 | a0001c0001t0001g0002 a0001c0001t0001g0068 a0001c0001t0001g0069 others(3): Show |
6 | HG02109.hp2 HG02818.hp1 HG02976.hp1 others(3): Show |
intron_variant | MODIFIER | c.1266+3551T>C | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 13/23 | chr19 | 16410222 | |||||||
| chr19:16410268 | G | A | 4 | a0001c0001t0001g0121 a0001c0001t0001g0170 a0001c0001t0001g0171 others(1): Show |
4 | HG01496.hp1 HG02602.hp1 HG03710.hp2 others(1): Show |
intron_variant | MODIFIER | c.1266+3505C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 13/23 | chr19 | 16410268 | |||||||
| chr19:16410332 | C | A | 14 | a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 others(11): Show |
14 | HG00099.hp1 HG00323.hp2 HG00735.hp2 others(11): Show |
intron_variant | MODIFIER | c.1266+3441G>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 13/23 | chr19 | 16410332 | |||||||
| chr19:16410535 | C | G | 19 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(16): Show |
19 | HG01192.hp2 HG01261.hp1 HG01346.hp1 others(16): Show |
intron_variant | MODIFIER | c.1266+3238G>C | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 13/23 | chr19 | 16410535 | |||||||
| chr19:16410747 | CA | C | 20 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(17): Show |
20 | HG01192.hp2 HG01261.hp1 HG01346.hp1 others(17): Show |
intron_variant | MODIFIER | c.1266+3025delT | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 13/23 | chr19 | 16410747 | |||||||
| chr19:16411502 | T | C | 1 | a0001c0001t0001g0148 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.1266+2271A>G | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 13/23 | chr19 | 16411502 | |||||||
| chr19:16411605 | G | T | 2 | a0001c0004t0001g0045 a0001c0004t0001g0046 |
2 | HG02886.hp2 NA20129.hp1 |
intron_variant | MODIFIER | c.1266+2168C>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 13/23 | chr19 | 16411605 | |||||||
| chr19:16411899 | G | A | 19 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(16): Show |
19 | HG01192.hp2 HG01261.hp1 HG01346.hp1 others(16): Show |
intron_variant | MODIFIER | c.1266+1874C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 13/23 | chr19 | 16411899 | |||||||
| chr19:16411960 | A | G | 1 | a0001c0009t0001g0168 | 1 | HG01952.hp1 | intron_variant | MODIFIER | c.1266+1813T>C | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 13/23 | chr19 | 16411960 | |||||||
| chr19:16412000 | C | T | 69 | a0001c0001t0001g0001 a0001c0001t0001g0023 a0001c0001t0001g0024 others(66): Show |
69 | HG00423.hp1 HG00544.hp1 HG00609.hp2 others(66): Show |
intron_variant | MODIFIER | c.1266+1773G>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 13/23 | chr19 | 16412000 | |||||||
| chr19:16412133 | G | C | 2 | a0001c0001t0001g0131 a0001c0001t0001g0140 |
2 | HG03579.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.1266+1640C>G | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 13/23 | chr19 | 16412133 | |||||||
| chr19:16412283 | C | A | 4 | a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 others(1): Show |
4 | HG01070.hp2 HG01071.hp2 HG02922.hp2 others(1): Show |
intron_variant | MODIFIER | c.1266+1490G>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 13/23 | chr19 | 16412283 | |||||||
| chr19:16412318 | G | A | 10 | a0001c0001t0001g0159 a0001c0001t0001g0192 a0001c0001t0001g0196 others(7): Show |
10 | HG00558.hp2 HG00621.hp2 HG02027.hp2 others(7): Show |
intron_variant | MODIFIER | c.1266+1455C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 13/23 | chr19 | 16412318 | |||||||
| chr19:16412508 | A | G | 1 | a0001c0001t0001g0231 | 1 | NA18998.hp1 | intron_variant | MODIFIER | c.1266+1265T>C | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 13/23 | chr19 | 16412508 | |||||||
| chr19:16412509 | G | A | 1 | a0001c0001t0001g0231 | 1 | NA18998.hp1 | intron_variant | MODIFIER | c.1266+1264C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 13/23 | chr19 | 16412509 | |||||||
| chr19:16412632 | AAT | A | 116 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(113): Show |
116 | HG00099.hp1 HG00323.hp2 HG00423.hp1 others(113): Show |
intron_variant | MODIFIER | c.1266+1139_1266+114 others(6): Show |
EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 13/23 | chr19 | 16412632 | |||||||
| chr19:16412647 | A | T | 2 | a0001c0001t0001g0023 a0001c0001t0001g0025 |
2 | HG03195.hp2 NA20300.hp1 |
intron_variant | MODIFIER | c.1266+1126T>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 13/23 | chr19 | 16412647 | |||||||
| chr19:16412707 | G | A | 1 | a0001c0001t0001g0081 | 1 | NA19060.hp1 | intron_variant | MODIFIER | c.1266+1066C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 13/23 | chr19 | 16412707 | |||||||
| chr19:16412713 | TG | T | 92 | a0001c0001t0001g0004 a0001c0001t0001g0041 a0001c0001t0001g0042 others(89): Show |
92 | HG00099.hp1 HG00323.hp1 HG00323.hp2 others(89): Show |
intron_variant | MODIFIER | c.1266+1059delC | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 13/23 | chr19 | 16412713 | |||||||
| chr19:16412713 | TGG | T | 69 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0021 others(66): Show |
69 | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(66): Show |
intron_variant | MODIFIER | c.1266+1058_1266+105 others(6): Show |
EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 13/23 | chr19 | 16412713 | |||||||
| chr19:16412713 | TGGG | T | 19 | a0001c0001t0001g0001 a0001c0001t0001g0022 a0001c0001t0001g0031 others(16): Show |
19 | HG00544.hp1 HG02109.hp2 HG02135.hp2 others(16): Show |
intron_variant | MODIFIER | c.1266+1057_1266+105 others(7): Show |
EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 13/23 | chr19 | 16412713 | |||||||
| chr19:16412713 | TGGGG | T | 71 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(68): Show |
71 | HG00423.hp1 HG00609.hp2 HG00741.hp1 others(68): Show |
intron_variant | MODIFIER | c.1266+1056_1266+105 others(8): Show |
EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 13/23 | chr19 | 16412713 | |||||||
| chr19:16412714 | G | C | 7 | a0001c0001t0001g0052 a0001c0001t0001g0067 a0001c0001t0001g0234 others(4): Show |
7 | HG00735.hp2 HG01496.hp2 HG02280.hp2 others(4): Show |
intron_variant | MODIFIER | c.1266+1059C>G | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 13/23 | chr19 | 16412714 | |||||||
| chr19:16412715 | G | C | 8 | a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0108 others(5): Show |
8 | HG00099.hp1 HG00323.hp2 HG02293.hp2 others(5): Show |
intron_variant | MODIFIER | c.1266+1058C>G | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 13/23 | chr19 | 16412715 | |||||||
| chr19:16412720 | G | A | 4 | a0001c0001t0001g0159 a0001c0001t0001g0192 a0001c0001t0001g0200 others(1): Show |
4 | HG02027.hp2 NA18962.hp1 NA18997.hp1 others(1): Show |
intron_variant | MODIFIER | c.1266+1053C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 13/23 | chr19 | 16412720 | |||||||
| chr19:16412720 | G | C | 20 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(17): Show |
20 | HG01192.hp2 HG01261.hp1 HG01346.hp1 others(17): Show |
intron_variant | MODIFIER | c.1266+1053C>G | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 13/23 | chr19 | 16412720 | |||||||
| chr19:16412723 | G | C | 1 | a0001c0001t0001g0044 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.1266+1050C>G | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 13/23 | chr19 | 16412723 | |||||||
| chr19:16412726 | G | T | 1 | a0001c0001t0001g0151 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.1266+1047C>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 13/23 | chr19 | 16412726 | |||||||
| chr19:16412727 | G | A | 1 | a0001c0001t0001g0131 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.1266+1046C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 13/23 | chr19 | 16412727 | |||||||
| chr19:16412778 | G | A | 69 | a0001c0001t0001g0001 a0001c0001t0001g0023 a0001c0001t0001g0024 others(66): Show |
69 | HG00423.hp1 HG00544.hp1 HG00609.hp2 others(66): Show |
intron_variant | MODIFIER | c.1266+995C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 13/23 | chr19 | 16412778 | |||||||
| chr19:16412804 | G | A | 1 | a0001c0001t0001g0171 | 1 | HG03710.hp2 | intron_variant | MODIFIER | c.1266+969C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 13/23 | chr19 | 16412804 | |||||||
| chr19:16412817 | A | G | 19 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(16): Show |
19 | HG01192.hp2 HG01261.hp1 HG01346.hp1 others(16): Show |
intron_variant | MODIFIER | c.1266+956T>C | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 13/23 | chr19 | 16412817 | |||||||
| chr19:16412835 | G | A | 1 | a0001c0001t0001g0235 | 1 | HG02293.hp2 | intron_variant | MODIFIER | c.1266+938C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 13/23 | chr19 | 16412835 | |||||||
| chr19:16412858 | G | A | 3 | a0001c0001t0001g0147 a0001c0001t0001g0151 a0001c0001t0001g0187 |
3 | HG02698.hp2 HG03831.hp2 HG04228.hp1 |
intron_variant | MODIFIER | c.1266+915C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 13/23 | chr19 | 16412858 | |||||||
| chr19:16412952 | G | A | 1 | a0001c0004t0001g0045 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.1266+821C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 13/23 | chr19 | 16412952 | |||||||
| chr19:16412960 | A | G | 1 | a0001c0001t0001g0140 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.1266+813T>C | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 13/23 | chr19 | 16412960 | |||||||
| chr19:16412973 | C | A | 5 | a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 others(2): Show |
5 | HG02257.hp2 HG02258.hp2 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.1266+800G>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 13/23 | chr19 | 16412973 | |||||||
| chr19:16413084 | C | T | 1 | a0001c0001t0001g0022 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.1266+689G>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 13/23 | chr19 | 16413084 | |||||||
| chr19:16413149 | G | A | 1 | a0001c0001t0001g0233 | 1 | HG03688.hp2 | intron_variant | MODIFIER | c.1266+624C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 13/23 | chr19 | 16413149 | |||||||
| chr19:16413375 | G | A | 15 | a0001c0001t0001g0001 a0001c0001t0001g0023 a0001c0001t0001g0024 others(12): Show |
15 | HG01109.hp2 HG02109.hp1 HG02572.hp2 others(12): Show |
intron_variant | MODIFIER | c.1266+398C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 13/23 | chr19 | 16413375 | |||||||
| chr19:16413627 | C | A | 1 | a0001c0001t0001g0064 | 1 | HG02080.hp2 | intron_variant | MODIFIER | c.1266+146G>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 13/23 | chr19 | 16413627 | |||||||
| chr19:16413757 | C | T | 1 | a0001c0001t0001g0022 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.1266+16G>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 13/23 | chr19 | 16413757 | |||||||
| chr19:16413936 | C | A | 1 | a0001c0001t0001g0061 | 1 | HG03927.hp2 | intron_variant | MODIFIER | c.1194-91G>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 12/23 | chr19 | 16413936 | |||||||
| chr19:16414127 | A | G | 1 | a0001c0001t0001g0250 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.1194-282T>C | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 12/23 | chr19 | 16414127 | |||||||
| chr19:16414249 | G | A | 1 | a0001c0001t0002g0058 | 1 | NA20752.hp2 | intron_variant | MODIFIER | c.1194-404C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 12/23 | chr19 | 16414249 | |||||||
| chr19:16414345 | G | A | 5 | a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 others(2): Show |
5 | HG02257.hp2 HG02258.hp2 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.1194-500C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 12/23 | chr19 | 16414345 | |||||||
| chr19:16414425 | G | C | 6 | a0001c0001t0001g0002 a0001c0001t0001g0068 a0001c0001t0001g0069 others(3): Show |
6 | HG02109.hp2 HG02818.hp1 HG02976.hp1 others(3): Show |
intron_variant | MODIFIER | c.1194-580C>G | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 12/23 | chr19 | 16414425 | |||||||
| chr19:16414487 | G | A | 2 | a0001c0001t0001g0259 a0001c0001t0001g0260 |
2 | HG00099.hp1 HG02602.hp2 |
intron_variant | MODIFIER | c.1194-642C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 12/23 | chr19 | 16414487 | |||||||
| chr19:16414495 | A | G | 1 | a0001c0001t0001g0073 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.1194-650T>C | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 12/23 | chr19 | 16414495 | |||||||
| chr19:16414520 | C | T | 16 | a0001c0001t0001g0021 a0001c0001t0001g0121 a0001c0001t0001g0167 others(13): Show |
16 | HG00621.hp1 HG01074.hp1 HG01496.hp1 others(13): Show |
intron_variant | MODIFIER | c.1194-675G>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 12/23 | chr19 | 16414520 | |||||||
| chr19:16414580 | C | T | 148 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(145): Show |
148 | HG00099.hp1 HG00280.hp2 HG00323.hp1 others(145): Show |
intron_variant | MODIFIER | c.1194-735G>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 12/23 | chr19 | 16414580 | |||||||
| chr19:16414679 | G | T | 5 | a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 others(2): Show |
5 | HG02257.hp2 HG02258.hp2 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.1194-834C>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 12/23 | chr19 | 16414679 | |||||||
| chr19:16414712 | G | GT | 10 | a0001c0001t0001g0054 a0001c0001t0001g0064 a0001c0001t0001g0075 others(7): Show |
10 | HG00741.hp1 HG01884.hp2 HG02080.hp2 others(7): Show |
intron_variant | MODIFIER | c.1194-868dupA | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 12/23 | chr19 | 16414712 | |||||||
| chr19:16414712 | G | GTT | 7 | a0001c0001t0001g0175 a0001c0001t0001g0181 a0001c0001t0001g0182 others(4): Show |
7 | HG00735.hp1 HG01070.hp1 HG01071.hp1 others(4): Show |
intron_variant | MODIFIER | c.1194-869_1194-868d others(4): Show |
EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 12/23 | chr19 | 16414712 | |||||||
| chr19:16414712 | G | T | 1 | a0001c0001t0001g0036 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.1194-867C>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 12/23 | chr19 | 16414712 | |||||||
| chr19:16414719 | T | G | 2 | a0001c0001t0001g0190 a0001c0001t0001g0216 |
2 | NA18955.hp2 NA18960.hp2 |
intron_variant | MODIFIER | c.1194-874A>C | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 12/23 | chr19 | 16414719 | |||||||
| chr19:16415000 | C | A | 4 | a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0071 others(1): Show |
4 | HG02109.hp2 HG02818.hp1 HG03225.hp2 others(1): Show |
intron_variant | MODIFIER | c.1194-1155G>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 12/23 | chr19 | 16415000 | |||||||
| chr19:16415438 | C | G | 19 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(16): Show |
19 | HG01192.hp2 HG01261.hp1 HG01346.hp1 others(16): Show |
intron_variant | MODIFIER | c.1194-1593G>C | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 12/23 | chr19 | 16415438 | |||||||
| chr19:16415590 | G | A | 1 | a0001c0001t0001g0251 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.1194-1745C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 12/23 | chr19 | 16415590 | |||||||
| chr19:16415734 | T | A | 1 | a0001c0001t0001g0104 | 1 | NA18945.hp2 | intron_variant | MODIFIER | c.1193+1818A>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 12/23 | chr19 | 16415734 | |||||||
| chr19:16415784 | G | A | 1 | a0001c0001t0001g0242 | 1 | HG02080.hp1 | intron_variant | MODIFIER | c.1193+1768C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 12/23 | chr19 | 16415784 | |||||||
| chr19:16415944 | C | T | 5 | a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 others(2): Show |
5 | HG02257.hp2 HG02258.hp2 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.1193+1608G>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 12/23 | chr19 | 16415944 | |||||||
| chr19:16415967 | C | G | 1 | a0001c0001t0001g0258 | 1 | NA18962.hp2 | intron_variant | MODIFIER | c.1193+1585G>C | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 12/23 | chr19 | 16415967 | |||||||
| chr19:16415976 | G | A | 69 | a0001c0001t0001g0001 a0001c0001t0001g0023 a0001c0001t0001g0024 others(66): Show |
69 | HG00423.hp1 HG00544.hp1 HG00609.hp2 others(66): Show |
intron_variant | MODIFIER | c.1193+1576C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 12/23 | chr19 | 16415976 | |||||||
| chr19:16416175 | G | A | 3 | a0001c0001t0001g0053 a0001c0001t0001g0202 a0001c0001t0001g0212 |
3 | HG01928.hp1 HG02647.hp2 NA20752.hp1 |
intron_variant | MODIFIER | c.1193+1377C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 12/23 | chr19 | 16416175 | |||||||
| chr19:16416385 | C | T | 1 | a0001c0001t0001g0268 | 1 | NA18951.hp1 | intron_variant | MODIFIER | c.1193+1167G>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 12/23 | chr19 | 16416385 | |||||||
| chr19:16416390 | C | T | 1 | a0001c0001t0001g0067 | 1 | HG00735.hp2 | intron_variant | MODIFIER | c.1193+1162G>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 12/23 | chr19 | 16416390 | |||||||
| chr19:16416457 | G | A | 1 | a0001c0001t0001g0142 | 1 | HG02040.hp1 | intron_variant | MODIFIER | c.1193+1095C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 12/23 | chr19 | 16416457 | |||||||
| chr19:16416482 | A | T | 1 | a0001c0001t0001g0041 | 1 | HG03688.hp1 | intron_variant | MODIFIER | c.1193+1070T>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 12/23 | chr19 | 16416482 | |||||||
| chr19:16416560 | C | A | 1 | a0001c0001t0001g0027 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.1193+992G>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 12/23 | chr19 | 16416560 | |||||||
| chr19:16416641 | T | TA | 9 | a0001c0001t0001g0002 a0001c0001t0001g0068 a0001c0001t0001g0069 others(6): Show |
9 | HG01934.hp2 HG02109.hp2 HG02818.hp1 others(6): Show |
intron_variant | MODIFIER | c.1193+910dupT | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 12/23 | chr19 | 16416641 | |||||||
| chr19:16416641 | TA | T | 27 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(24): Show |
27 | HG00323.hp1 HG01192.hp2 HG01261.hp1 others(24): Show |
intron_variant | MODIFIER | c.1193+910delT | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 12/23 | chr19 | 16416641 | |||||||
| chr19:16416680 | G | A | 1 | a0001c0005t0009g0257 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.1193+872C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 12/23 | chr19 | 16416680 | |||||||
| chr19:16416846 | G | A | 15 | a0001c0001t0001g0001 a0001c0001t0001g0023 a0001c0001t0001g0024 others(12): Show |
15 | HG01109.hp2 HG02109.hp1 HG02572.hp2 others(12): Show |
intron_variant | MODIFIER | c.1193+706C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 12/23 | chr19 | 16416846 | |||||||
| chr19:16416847 | GGGAATAC others(1): Show |
G | 5 | a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 others(2): Show |
5 | HG02257.hp2 HG02258.hp2 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.1193+697_1193+704d others(10): Show |
EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 12/23 | chr19 | 16416847 | |||||||
| chr19:16417023 | T | C | 110 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(107): Show |
110 | HG00099.hp1 HG00323.hp2 HG00408.hp1 others(107): Show |
intron_variant | MODIFIER | c.1193+529A>G | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 12/23 | chr19 | 16417023 | |||||||
| chr19:16417070 | A | T | 19 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(16): Show |
19 | HG01192.hp2 HG01261.hp1 HG01346.hp1 others(16): Show |
intron_variant | MODIFIER | c.1193+482T>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 12/23 | chr19 | 16417070 | |||||||
| chr19:16417106 | C | T | 1 | a0001c0001t0001g0252 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.1193+446G>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 12/23 | chr19 | 16417106 | |||||||
| chr19:16417140 | C | G | 1 | a0001c0001t0001g0256 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.1193+412G>C | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 12/23 | chr19 | 16417140 | |||||||
| chr19:16417144 | C | T | 1 | a0001c0001t0001g0166 | 1 | HG01167.hp2 | intron_variant | MODIFIER | c.1193+408G>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 12/23 | chr19 | 16417144 | |||||||
| chr19:16417171 | G | A | 15 | a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 others(12): Show |
15 | HG00099.hp1 HG00323.hp2 HG00735.hp2 others(12): Show |
intron_variant | MODIFIER | c.1193+381C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 12/23 | chr19 | 16417171 | |||||||
| chr19:16417275 | T | C | 1 | a0001c0005t0009g0257 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.1193+277A>G | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 12/23 | chr19 | 16417275 | |||||||
| chr19:16417461 | AC | A | 19 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(16): Show |
19 | HG01192.hp2 HG01261.hp1 HG01346.hp1 others(16): Show |
intron_variant | MODIFIER | c.1193+90delG | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 12/23 | chr19 | 16417461 | |||||||
| chr19:16417464 | T | A | 19 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(16): Show |
19 | HG01192.hp2 HG01261.hp1 HG01346.hp1 others(16): Show |
intron_variant | MODIFIER | c.1193+88A>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 12/23 | chr19 | 16417464 | |||||||
| chr19:16417468 | G | GCAAATAC others(2): Show |
19 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(16): Show |
19 | HG01192.hp2 HG01261.hp1 HG01346.hp1 others(16): Show |
intron_variant | MODIFIER | c.1193+83_1193+84ins others(9): Show |
EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 12/23 | chr19 | 16417468 | |||||||
| chr19:16417470 | T | A | 19 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(16): Show |
19 | HG01192.hp2 HG01261.hp1 HG01346.hp1 others(16): Show |
intron_variant | MODIFIER | c.1193+82A>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 12/23 | chr19 | 16417470 | |||||||
| chr19:16417471 | G | GCAAATAC others(1): Show |
19 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(16): Show |
19 | HG01192.hp2 HG01261.hp1 HG01346.hp1 others(16): Show |
intron_variant | MODIFIER | c.1193+80_1193+81ins others(8): Show |
EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 12/23 | chr19 | 16417471 | |||||||
| chr19:16417807 | C | T | 1 | a0001c0001t0001g0075 | 1 | NA18961.hp1 | intron_variant | MODIFIER | c.1107+141G>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 11/23 | chr19 | 16417807 | |||||||
| chr19:16417808 | T | C | 1 | a0001c0001t0001g0075 | 1 | NA18961.hp1 | intron_variant | MODIFIER | c.1107+140A>G | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 11/23 | chr19 | 16417808 | |||||||
| chr19:16417811 | C | G | 1 | a0001c0001t0001g0075 | 1 | NA18961.hp1 | intron_variant | MODIFIER | c.1107+137G>C | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 11/23 | chr19 | 16417811 | |||||||
| chr19:16417837 | G | A | 1 | a0001c0001t0001g0171 | 1 | HG03710.hp2 | intron_variant | MODIFIER | c.1107+111C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 11/23 | chr19 | 16417837 | |||||||
| chr19:16419043 | T | A | 1 | a0001c0001t0001g0164 | 1 | HG01433.hp2 | intron_variant | MODIFIER | c.951-939A>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 10/23 | chr19 | 16419043 | |||||||
| chr19:16419048 | G | A | 17 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(14): Show |
17 | HG01192.hp2 HG01261.hp1 HG01346.hp1 others(14): Show |
intron_variant | MODIFIER | c.951-944C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 10/23 | chr19 | 16419048 | |||||||
| chr19:16419315 | C | T | 1 | a0001c0001t0001g0043 | 1 | NA18948.hp2 | intron_variant | MODIFIER | c.951-1211G>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 10/23 | chr19 | 16419315 | |||||||
| chr19:16419327 | C | T | 2 | a0001c0001t0001g0225 a0001c0001t0001g0226 |
2 | HG00621.hp1 NA18612.hp2 |
intron_variant | MODIFIER | c.951-1223G>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 10/23 | chr19 | 16419327 | |||||||
| chr19:16419332 | G | A | 69 | a0001c0001t0001g0001 a0001c0001t0001g0023 a0001c0001t0001g0024 others(66): Show |
69 | HG00423.hp1 HG00544.hp1 HG00609.hp2 others(66): Show |
intron_variant | MODIFIER | c.951-1228C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 10/23 | chr19 | 16419332 | |||||||
| chr19:16419337 | T | A | 15 | a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 others(12): Show |
15 | HG01934.hp2 HG02258.hp1 HG02451.hp2 others(12): Show |
intron_variant | MODIFIER | c.951-1233A>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 10/23 | chr19 | 16419337 | |||||||
| chr19:16419463 | A | T | 70 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0023 others(67): Show |
70 | HG00408.hp1 HG00423.hp1 HG00544.hp1 others(67): Show |
intron_variant | MODIFIER | c.951-1359T>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 10/23 | chr19 | 16419463 | |||||||
| chr19:16419473 | A | T | 2 | a0001c0004t0001g0045 a0001c0004t0001g0046 |
2 | HG02886.hp2 NA20129.hp1 |
intron_variant | MODIFIER | c.951-1369T>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 10/23 | chr19 | 16419473 | |||||||
| chr19:16419487 | A | G | 19 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(16): Show |
19 | HG01192.hp2 HG01261.hp1 HG01346.hp1 others(16): Show |
intron_variant | MODIFIER | c.951-1383T>C | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 10/23 | chr19 | 16419487 | |||||||
| chr19:16419626 | A | G | 19 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(16): Show |
19 | HG01192.hp2 HG01261.hp1 HG01346.hp1 others(16): Show |
intron_variant | MODIFIER | c.951-1522T>C | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 10/23 | chr19 | 16419626 | |||||||
| chr19:16419635 | T | C | 1 | a0001c0001t0001g0022 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.951-1531A>G | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 10/23 | chr19 | 16419635 | |||||||
| chr19:16419665 | G | A | 5 | a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 others(2): Show |
5 | HG02257.hp2 HG02258.hp2 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.951-1561C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 10/23 | chr19 | 16419665 | |||||||
| chr19:16419710 | C | A | 1 | a0001c0005t0009g0257 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.951-1606G>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 10/23 | chr19 | 16419710 | |||||||
| chr19:16419773 | G | A | 1 | a0001c0005t0009g0257 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.950+1546C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 10/23 | chr19 | 16419773 | |||||||
| chr19:16419821 | T | C | 4 | a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0157 others(1): Show |
4 | HG00280.hp1 HG00733.hp2 HG00741.hp2 others(1): Show |
intron_variant | MODIFIER | c.950+1498A>G | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 10/23 | chr19 | 16419821 | |||||||
| chr19:16419887 | A | G | 1 | a0001c0005t0009g0257 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.950+1432T>C | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 10/23 | chr19 | 16419887 | |||||||
| chr19:16420056 | A | G | 5 | a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 others(2): Show |
5 | HG02257.hp2 HG02258.hp2 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.950+1263T>C | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 10/23 | chr19 | 16420056 | |||||||
| chr19:16420506 | C | T | 1 | a0001c0001t0001g0247 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.950+813G>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 10/23 | chr19 | 16420506 | |||||||
| chr19:16420543 | T | A | 19 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(16): Show |
19 | HG01192.hp2 HG01261.hp1 HG01346.hp1 others(16): Show |
intron_variant | MODIFIER | c.950+776A>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 10/23 | chr19 | 16420543 | |||||||
| chr19:16420665 | G | C | 1 | a0001c0005t0009g0257 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.950+654C>G | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 10/23 | chr19 | 16420665 | |||||||
| chr19:16420667 | T | C | 1 | a0001c0001t0001g0250 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.950+652A>G | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 10/23 | chr19 | 16420667 | |||||||
| chr19:16420788 | C | T | 1 | a0001c0001t0001g0250 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.950+531G>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 10/23 | chr19 | 16420788 | |||||||
| chr19:16420814 | G | C | 1 | a0001c0001t0001g0144 | 1 | NA19068.hp2 | intron_variant | MODIFIER | c.950+505C>G | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 10/23 | chr19 | 16420814 | |||||||
| chr19:16421081 | G | A | 20 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(17): Show |
20 | HG01192.hp2 HG01261.hp1 HG01346.hp1 others(17): Show |
intron_variant | MODIFIER | c.950+238C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 10/23 | chr19 | 16421081 | |||||||
| chr19:16421133 | G | C | 1 | a0001c0001t0001g0021 | 1 | HG03491.hp2 | intron_variant | MODIFIER | c.950+186C>G | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 10/23 | chr19 | 16421133 | |||||||
| chr19:16421195 | C | T | 1 | a0001c0001t0001g0236 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.950+124G>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 10/23 | chr19 | 16421195 | |||||||
| chr19:16421218 | G | A | 2 | a0001c0001t0001g0096 a0001c0001t0007g0114 |
2 | HG02015.hp1 NA18992.hp1 |
intron_variant | MODIFIER | c.950+101C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 10/23 | chr19 | 16421218 | |||||||
| chr19:16421819 | G | C | 1 | a0001c0001t0001g0123 | 1 | NA18967.hp2 | intron_variant | MODIFIER | c.793-343C>G | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 9/23 | chr19 | 16421819 | |||||||
| chr19:16422073 | G | A | 1 | a0001c0001t0001g0054 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.793-597C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 9/23 | chr19 | 16422073 | |||||||
| chr19:16422229 | G | A | 1 | a0001c0001t0001g0095 | 1 | HG02083.hp2 | intron_variant | MODIFIER | c.793-753C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 9/23 | chr19 | 16422229 | |||||||
| chr19:16422246 | A | C | 34 | a0001c0001t0001g0022 a0001c0001t0001g0041 a0001c0001t0001g0042 others(31): Show |
34 | HG00280.hp2 HG00323.hp1 HG00423.hp2 others(31): Show |
intron_variant | MODIFIER | c.793-770T>G | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 9/23 | chr19 | 16422246 | |||||||
| chr19:16422273 | G | A | 8 | a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 others(5): Show |
8 | HG02280.hp1 HG02559.hp2 HG03139.hp1 others(5): Show |
intron_variant | MODIFIER | c.793-797C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 9/23 | chr19 | 16422273 | |||||||
| chr19:16422313 | G | A | 1 | a0001c0001t0001g0250 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.793-837C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 9/23 | chr19 | 16422313 | |||||||
| chr19:16422414 | C | CT | 86 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0023 others(83): Show |
86 | HG00099.hp1 HG00323.hp2 HG00408.hp1 others(83): Show |
intron_variant | MODIFIER | c.793-939dupA | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 9/23 | chr19 | 16422414 | |||||||
| chr19:16422576 | T | C | 1 | a0001c0001t0001g0029 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.793-1100A>G | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 9/23 | chr19 | 16422576 | |||||||
| chr19:16422660 | T | C | 1 | a0001c0001t0001g0259 | 1 | HG00099.hp1 | intron_variant | MODIFIER | c.793-1184A>G | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 9/23 | chr19 | 16422660 | |||||||
| chr19:16422754 | T | C | 19 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(16): Show |
19 | HG01192.hp2 HG01261.hp1 HG01346.hp1 others(16): Show |
intron_variant | MODIFIER | c.793-1278A>G | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 9/23 | chr19 | 16422754 | |||||||
| chr19:16422800 | C | T | 1 | a0003c0008t0001g0210 | 1 | NA18940.hp1 | intron_variant | MODIFIER | c.793-1324G>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 9/23 | chr19 | 16422800 | |||||||
| chr19:16422822 | G | C | 1 | a0001c0001t0001g0053 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.793-1346C>G | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 9/23 | chr19 | 16422822 | |||||||
| chr19:16422932 | T | G | 15 | a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 others(12): Show |
15 | HG00099.hp1 HG00323.hp2 HG00735.hp2 others(12): Show |
intron_variant | MODIFIER | c.793-1456A>C | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 9/23 | chr19 | 16422932 | |||||||
| chr19:16422970 | A | G | 1 | a0001c0001t0001g0215 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.793-1494T>C | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 9/23 | chr19 | 16422970 | |||||||
| chr19:16422970 | AG | A | 41 | a0001c0001t0001g0002 a0001c0001t0001g0022 a0001c0001t0001g0041 others(38): Show |
41 | HG00280.hp2 HG00323.hp1 HG00423.hp2 others(38): Show |
intron_variant | MODIFIER | c.793-1495delC | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 9/23 | chr19 | 16422970 | |||||||
| chr19:16422974 | G | C | 1 | a0001c0001t0001g0064 | 1 | HG02080.hp2 | intron_variant | MODIFIER | c.793-1498C>G | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 9/23 | chr19 | 16422974 | |||||||
| chr19:16422975 | G | A | 1 | a0001c0001t0001g0123 | 1 | NA18967.hp2 | intron_variant | MODIFIER | c.793-1499C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 9/23 | chr19 | 16422975 | |||||||
| chr19:16423015 | G | A | 19 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(16): Show |
19 | HG01192.hp2 HG01261.hp1 HG01346.hp1 others(16): Show |
intron_variant | MODIFIER | c.793-1539C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 9/23 | chr19 | 16423015 | |||||||
| chr19:16423227 | T | C | 15 | a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 others(12): Show |
15 | HG00099.hp1 HG00323.hp2 HG00735.hp2 others(12): Show |
intron_variant | MODIFIER | c.793-1751A>G | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 9/23 | chr19 | 16423227 | |||||||
| chr19:16423396 | T | C | 16 | a0001c0001t0001g0021 a0001c0001t0001g0121 a0001c0001t0001g0167 others(13): Show |
16 | HG00621.hp1 HG01074.hp1 HG01496.hp1 others(13): Show |
intron_variant | MODIFIER | c.792+1687A>G | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 9/23 | chr19 | 16423396 | |||||||
| chr19:16423505 | G | A | 1 | a0001c0001t0001g0217 | 1 | HG04204.hp1 | intron_variant | MODIFIER | c.792+1578C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 9/23 | chr19 | 16423505 | |||||||
| chr19:16423523 | T | C | 1 | a0001c0005t0009g0257 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.792+1560A>G | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 9/23 | chr19 | 16423523 | |||||||
| chr19:16423536 | C | G | 1 | a0001c0001t0001g0032 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.792+1547G>C | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 9/23 | chr19 | 16423536 | |||||||
| chr19:16423579 | TA | T | 19 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(16): Show |
19 | HG01192.hp2 HG01261.hp1 HG01346.hp1 others(16): Show |
intron_variant | MODIFIER | c.792+1503delT | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 9/23 | chr19 | 16423579 | |||||||
| chr19:16423581 | A | T | 19 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(16): Show |
19 | HG01192.hp2 HG01261.hp1 HG01346.hp1 others(16): Show |
intron_variant | MODIFIER | c.792+1502T>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 9/23 | chr19 | 16423581 | |||||||
| chr19:16423714 | T | C | 1 | a0001c0001t0001g0271 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.792+1369A>G | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 9/23 | chr19 | 16423714 | |||||||
| chr19:16424047 | A | G | 1 | a0001c0001t0001g0264 | 1 | HG01496.hp2 | intron_variant | MODIFIER | c.792+1036T>C | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 9/23 | chr19 | 16424047 | |||||||
| chr19:16424099 | G | A | 67 | a0001c0001t0001g0001 a0001c0001t0001g0023 a0001c0001t0001g0024 others(64): Show |
67 | HG00423.hp1 HG00544.hp1 HG00609.hp2 others(64): Show |
intron_variant | MODIFIER | c.792+984C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 9/23 | chr19 | 16424099 | |||||||
| chr19:16424130 | C | G | 1 | a0001c0001t0001g0256 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.792+953G>C | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 9/23 | chr19 | 16424130 | |||||||
| chr19:16424186 | G | C | 7 | a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 others(4): Show |
7 | HG02040.hp2 HG02135.hp2 NA18951.hp2 others(4): Show |
intron_variant | MODIFIER | c.792+897C>G | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 9/23 | chr19 | 16424186 | |||||||
| chr19:16424212 | G | C | 1 | a0001c0001t0001g0044 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.792+871C>G | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 9/23 | chr19 | 16424212 | |||||||
| chr19:16424308 | G | A | 2 | a0001c0001t0001g0023 a0001c0001t0001g0025 |
2 | HG03195.hp2 NA20300.hp1 |
intron_variant | MODIFIER | c.792+775C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 9/23 | chr19 | 16424308 | |||||||
| chr19:16424333 | C | T | 1 | a0001c0001t0001g0043 | 1 | NA18948.hp2 | intron_variant | MODIFIER | c.792+750G>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 9/23 | chr19 | 16424333 | |||||||
| chr19:16424418 | C | T | 5 | a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 others(2): Show |
5 | HG02257.hp2 HG02258.hp2 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.792+665G>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 9/23 | chr19 | 16424418 | |||||||
| chr19:16424419 | G | A | 2 | a0001c0004t0001g0045 a0001c0004t0001g0046 |
2 | HG02886.hp2 NA20129.hp1 |
intron_variant | MODIFIER | c.792+664C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 9/23 | chr19 | 16424419 | |||||||
| chr19:16424509 | G | T | 1 | a0001c0005t0009g0257 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.792+574C>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 9/23 | chr19 | 16424509 | |||||||
| chr19:16424611 | G | A | 4 | a0001c0001t0001g0087 a0001c0001t0001g0098 a0001c0001t0001g0100 others(1): Show |
4 | HG02155.hp1 NA18747.hp2 NA18940.hp2 others(1): Show |
intron_variant | MODIFIER | c.792+472C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 9/23 | chr19 | 16424611 | |||||||
| chr19:16424721 | C | T | 1 | a0001c0001t0001g0115 | 1 | NA18995.hp1 | intron_variant | MODIFIER | c.792+362G>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 9/23 | chr19 | 16424721 | |||||||
| chr19:16424851 | C | T | 1 | a0001c0001t0001g0082 | 1 | NA19056.hp2 | intron_variant | MODIFIER | c.792+232G>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 9/23 | chr19 | 16424851 | |||||||
| chr19:16424862 | C | T | 2 | a0001c0004t0001g0045 a0001c0004t0001g0046 |
2 | HG02886.hp2 NA20129.hp1 |
intron_variant | MODIFIER | c.792+221G>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 9/23 | chr19 | 16424862 | |||||||
| chr19:16425320 | C | T | 1 | a0001c0001t0001g0250 | 1 | NA19240.hp1 | splice_region_variant&intron_variant | LOW | c.559-4G>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 8/23 | chr19 | 16425320 | |||||||
| chr19:16425350 | C | A | 1 | a0001c0001t0001g0196 | 1 | NA18999.hp2 | intron_variant | MODIFIER | c.559-34G>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 8/23 | chr19 | 16425350 | |||||||
| chr19:16425362 | C | T | 5 | a0001c0001t0001g0002 a0001c0001t0001g0068 a0001c0001t0001g0069 others(2): Show |
5 | HG02109.hp2 HG02818.hp1 HG02976.hp1 others(2): Show |
intron_variant | MODIFIER | c.559-46G>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 8/23 | chr19 | 16425362 | |||||||
| chr19:16425478 | T | G | 1 | a0001c0001t0001g0081 | 1 | NA19060.hp1 | intron_variant | MODIFIER | c.559-162A>C | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 8/23 | chr19 | 16425478 | |||||||
| chr19:16425560 | C | T | 5 | a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 others(2): Show |
5 | HG02257.hp2 HG02258.hp2 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.559-244G>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 8/23 | chr19 | 16425560 | |||||||
| chr19:16425761 | C | T | 1 | a0001c0001t0001g0053 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.559-445G>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 8/23 | chr19 | 16425761 | |||||||
| chr19:16425912 | G | T | 1 | a0001c0001t0001g0109 | 1 | NA18949.hp2 | intron_variant | MODIFIER | c.559-596C>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 8/23 | chr19 | 16425912 | |||||||
| chr19:16426021 | T | C | 55 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(52): Show |
55 | HG00280.hp2 HG00323.hp1 HG00408.hp1 others(52): Show |
intron_variant | MODIFIER | c.559-705A>G | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 8/23 | chr19 | 16426021 | |||||||
| chr19:16426187 | C | T | 69 | a0001c0001t0001g0001 a0001c0001t0001g0023 a0001c0001t0001g0024 others(66): Show |
69 | HG00423.hp1 HG00544.hp1 HG00609.hp2 others(66): Show |
intron_variant | MODIFIER | c.559-871G>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 8/23 | chr19 | 16426187 | |||||||
| chr19:16426195 | C | T | 69 | a0001c0001t0001g0001 a0001c0001t0001g0023 a0001c0001t0001g0024 others(66): Show |
69 | HG00423.hp1 HG00544.hp1 HG00609.hp2 others(66): Show |
intron_variant | MODIFIER | c.559-879G>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 8/23 | chr19 | 16426195 | |||||||
| chr19:16426400 | G | A | 4 | a0001c0001t0001g0116 a0001c0001t0001g0173 a0001c0001t0001g0174 others(1): Show |
4 | HG01243.hp2 HG03491.hp1 HG03492.hp1 others(1): Show |
intron_variant | MODIFIER | c.559-1084C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 8/23 | chr19 | 16426400 | |||||||
| chr19:16426404 | C | T | 5 | a0001c0001t0001g0002 a0001c0001t0001g0068 a0001c0001t0001g0069 others(2): Show |
5 | HG02109.hp2 HG02818.hp1 HG02976.hp1 others(2): Show |
intron_variant | MODIFIER | c.559-1088G>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 8/23 | chr19 | 16426404 | |||||||
| chr19:16426489 | A | T | 1 | a0001c0001t0001g0083 | 1 | HG00609.hp2 | intron_variant | MODIFIER | c.559-1173T>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 8/23 | chr19 | 16426489 | |||||||
| chr19:16426653 | G | A | 2 | a0001c0004t0001g0045 a0001c0004t0001g0046 |
2 | HG02886.hp2 NA20129.hp1 |
intron_variant | MODIFIER | c.559-1337C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 8/23 | chr19 | 16426653 | |||||||
| chr19:16426728 | G | A | 1 | a0001c0001t0001g0211 | 1 | HG03492.hp2 | intron_variant | MODIFIER | c.559-1412C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 8/23 | chr19 | 16426728 | |||||||
| chr19:16426847 | C | T | 3 | a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 |
3 | HG03195.hp2 NA20300.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.559-1531G>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 8/23 | chr19 | 16426847 | |||||||
| chr19:16426981 | G | A | 4 | a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0157 others(1): Show |
4 | HG00280.hp1 HG00733.hp2 HG00741.hp2 others(1): Show |
intron_variant | MODIFIER | c.559-1665C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 8/23 | chr19 | 16426981 | |||||||
| chr19:16427054 | G | C | 1 | a0001c0001t0001g0235 | 1 | HG02293.hp2 | intron_variant | MODIFIER | c.558+1648C>G | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 8/23 | chr19 | 16427054 | |||||||
| chr19:16427194 | G | C | 5 | a0001c0001t0001g0002 a0001c0001t0001g0068 a0001c0001t0001g0069 others(2): Show |
5 | HG02109.hp2 HG02818.hp1 HG02976.hp1 others(2): Show |
intron_variant | MODIFIER | c.558+1508C>G | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 8/23 | chr19 | 16427194 | |||||||
| chr19:16427351 | G | A | 1 | a0001c0001t0001g0038 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.558+1351C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 8/23 | chr19 | 16427351 | |||||||
| chr19:16427663 | G | A | 19 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(16): Show |
19 | HG01192.hp2 HG01261.hp1 HG01346.hp1 others(16): Show |
intron_variant | MODIFIER | c.558+1039C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 8/23 | chr19 | 16427663 | |||||||
| chr19:16427765 | G | A | 1 | a0001c0005t0009g0257 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.558+937C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 8/23 | chr19 | 16427765 | |||||||
| chr19:16427766 | C | T | 44 | a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 others(41): Show |
44 | HG00423.hp1 HG00544.hp1 HG00609.hp2 others(41): Show |
intron_variant | MODIFIER | c.558+936G>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 8/23 | chr19 | 16427766 | |||||||
| chr19:16427943 | C | T | 1 | a0001c0001t0001g0049 | 1 | HG02083.hp1 | intron_variant | MODIFIER | c.558+759G>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 8/23 | chr19 | 16427943 | |||||||
| chr19:16427981 | A | T | 7 | a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 others(4): Show |
7 | HG02257.hp2 HG02258.hp2 HG02922.hp1 others(4): Show |
intron_variant | MODIFIER | c.558+721T>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 8/23 | chr19 | 16427981 | |||||||
| chr19:16428278 | C | T | 1 | a0001c0001t0001g0022 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.558+424G>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 8/23 | chr19 | 16428278 | |||||||
| chr19:16428414 | G | GGGAA | 24 | a0001c0001t0001g0001 a0001c0001t0001g0023 a0001c0001t0001g0024 others(21): Show |
24 | HG01109.hp2 HG02109.hp1 HG02257.hp1 others(21): Show |
intron_variant | MODIFIER | c.558+284_558+287dup others(4): Show |
EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 8/23 | chr19 | 16428414 | |||||||
| chr19:16428414 | GGGAA | G | 10 | a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0179 others(7): Show |
10 | HG01884.hp1 HG02257.hp2 HG02258.hp2 others(7): Show |
intron_variant | MODIFIER | c.558+284_558+287del others(4): Show |
EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 8/23 | chr19 | 16428414 | |||||||
| chr19:16428414 | GGGAAGGA others(5): Show |
G | 1 | a0001c0001t0001g0165 | 1 | NA18945.hp1 | intron_variant | MODIFIER | c.558+276_558+287del others(12): Show |
EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 8/23 | chr19 | 16428414 | |||||||
| chr19:16428480 | AGAGG | A | 7 | a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0049 others(4): Show |
7 | HG00423.hp2 HG02015.hp1 HG02083.hp1 others(4): Show |
intron_variant | MODIFIER | c.558+218_558+221del others(4): Show |
EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 8/23 | chr19 | 16428480 | |||||||
| chr19:16428513 | GAA | G | 25 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 others(22): Show |
25 | HG01192.hp2 HG01261.hp1 HG01346.hp1 others(22): Show |
intron_variant | MODIFIER | c.558+187_558+188del others(2): Show |
EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 8/23 | chr19 | 16428513 | |||||||
| chr19:16428536 | G | GAAGA | 255 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(252): Show |
255 | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(252): Show |
intron_variant | MODIFIER | c.558+162_558+165dup others(4): Show |
EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 8/23 | chr19 | 16428536 | |||||||
| chr19:16428545 | C | A | 135 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(132): Show |
135 | HG00099.hp1 HG00280.hp2 HG00323.hp1 others(132): Show |
intron_variant | MODIFIER | c.558+157G>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 8/23 | chr19 | 16428545 | |||||||
| chr19:16428550 | AAGAAAG | A | 14 | a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 others(11): Show |
14 | HG00099.hp1 HG00323.hp2 HG00735.hp2 others(11): Show |
intron_variant | MODIFIER | c.558+146_558+151del others(6): Show |
EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 8/23 | chr19 | 16428550 | |||||||
| chr19:16428555 | A | C | 1 | a0001c0001t0001g0116 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.558+147T>G | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 8/23 | chr19 | 16428555 | |||||||
| chr19:16428588 | GAAAAGAA others(5): Show |
G | 4 | a0001c0001t0001g0074 a0001c0001t0001g0085 a0001c0001t0001g0088 others(1): Show |
4 | HG02135.hp2 HG03492.hp2 NA18948.hp1 others(1): Show |
intron_variant | MODIFIER | c.558+102_558+113del others(12): Show |
EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 8/23 | chr19 | 16428588 | |||||||
| chr19:16428828 | C | A | 1 | a0001c0001t0001g0151 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.499-67G>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 7/23 | chr19 | 16428828 | |||||||
| chr19:16428843 | C | T | 2 | a0001c0001t0001g0148 a0001c0001t0001g0149 |
2 | HG02572.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.499-82G>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 7/23 | chr19 | 16428843 | |||||||
| chr19:16428897 | C | G | 2 | a0001c0001t0001g0062 a0001c0001t0001g0063 |
2 | NA18969.hp1 NA19068.hp1 |
intron_variant | MODIFIER | c.499-136G>C | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 7/23 | chr19 | 16428897 | |||||||
| chr19:16428903 | G | A | 2 | a0001c0001t0001g0080 a0001c0001t0001g0170 |
2 | HG01496.hp1 NA18967.hp1 |
intron_variant | MODIFIER | c.499-142C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 7/23 | chr19 | 16428903 | |||||||
| chr19:16428905 | G | A | 2 | a0001c0001t0001g0172 a0001c0001t0001g0230 |
2 | HG01884.hp2 HG03579.hp2 |
intron_variant | MODIFIER | c.499-144C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 7/23 | chr19 | 16428905 | |||||||
| chr19:16428987 | T | C | 2 | a0001c0002t0001g0221 a0001c0002t0001g0222 |
2 | HG01175.hp2 HG01192.hp1 |
intron_variant | MODIFIER | c.499-226A>G | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 7/23 | chr19 | 16428987 | |||||||
| chr19:16429069 | G | GA | 35 | a0001c0001t0001g0004 a0001c0001t0001g0022 a0001c0001t0001g0041 others(32): Show |
35 | HG00280.hp2 HG00323.hp1 HG00408.hp1 others(32): Show |
intron_variant | MODIFIER | c.499-309dupT | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 7/23 | chr19 | 16429069 | |||||||
| chr19:16429402 | G | C | 1 | a0001c0001t0001g0189 | 1 | HG02148.hp1 | intron_variant | MODIFIER | c.499-641C>G | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 7/23 | chr19 | 16429402 | |||||||
| chr19:16429410 | G | A | 1 | a0001c0001t0001g0002 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.499-649C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 7/23 | chr19 | 16429410 | |||||||
| chr19:16429496 | T | G | 1 | a0001c0001t0001g0147 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.499-735A>C | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 7/23 | chr19 | 16429496 | |||||||
| chr19:16429569 | C | A | 1 | a0001c0001t0004g0113 | 1 | HG02683.hp2 | intron_variant | MODIFIER | c.499-808G>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 7/23 | chr19 | 16429569 | |||||||
| chr19:16429573 | C | T | 1 | a0001c0001t0001g0106 | 1 | NA19058.hp2 | intron_variant | MODIFIER | c.499-812G>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 7/23 | chr19 | 16429573 | |||||||
| chr19:16429577 | A | G | 1 | a0001c0001t0001g0268 | 1 | NA18951.hp1 | intron_variant | MODIFIER | c.499-816T>C | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 7/23 | chr19 | 16429577 | |||||||
| chr19:16429620 | C | T | 1 | a0001c0001t0001g0053 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.499-859G>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 7/23 | chr19 | 16429620 | |||||||
| chr19:16429660 | A | ACCCTGCC others(12): Show |
1 | a0001c0001t0001g0062 | 1 | NA19068.hp1 | intron_variant | MODIFIER | c.499-900_499-899ins others(19): Show |
EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 7/23 | chr19 | 16429660 | |||||||
| chr19:16429697 | G | A | 1 | a0001c0001t0001g0256 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.499-936C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 7/23 | chr19 | 16429697 | |||||||
| chr19:16429709 | G | A | 1 | a0001c0001t0001g0134 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.499-948C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 7/23 | chr19 | 16429709 | |||||||
| chr19:16430208 | G | A | 1 | a0001c0001t0001g0244 | 1 | HG00733.hp1 | intron_variant | MODIFIER | c.499-1447C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 7/23 | chr19 | 16430208 | |||||||
| chr19:16430251 | A | G | 35 | a0001c0001t0001g0004 a0001c0001t0001g0022 a0001c0001t0001g0041 others(32): Show |
35 | HG00280.hp2 HG00323.hp1 HG00408.hp1 others(32): Show |
intron_variant | MODIFIER | c.499-1490T>C | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 7/23 | chr19 | 16430251 | |||||||
| chr19:16430265 | T | C | 2 | a0001c0001t0003g0274 a0001c0001t0003g0276 |
2 | HG02622.hp2 HG02717.hp1 |
intron_variant | MODIFIER | c.499-1504A>G | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 7/23 | chr19 | 16430265 | |||||||
| chr19:16430374 | A | G | 55 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(52): Show |
55 | HG00280.hp2 HG00323.hp1 HG00408.hp1 others(52): Show |
intron_variant | MODIFIER | c.499-1613T>C | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 7/23 | chr19 | 16430374 | |||||||
| chr19:16430455 | G | A | 7 | a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 others(4): Show |
7 | HG02257.hp2 HG02258.hp2 HG02922.hp1 others(4): Show |
intron_variant | MODIFIER | c.499-1694C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 7/23 | chr19 | 16430455 | |||||||
| chr19:16430594 | T | A | 7 | a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 others(4): Show |
7 | HG02257.hp2 HG02258.hp2 HG02922.hp1 others(4): Show |
intron_variant | MODIFIER | c.499-1833A>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 7/23 | chr19 | 16430594 | |||||||
| chr19:16430596 | T | A | 7 | a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 others(4): Show |
7 | HG02257.hp2 HG02258.hp2 HG02922.hp1 others(4): Show |
intron_variant | MODIFIER | c.499-1835A>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 7/23 | chr19 | 16430596 | |||||||
| chr19:16430720 | G | A | 1 | a0001c0001t0001g0166 | 1 | HG01167.hp2 | intron_variant | MODIFIER | c.499-1959C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 7/23 | chr19 | 16430720 | |||||||
| chr19:16430774 | C | T | 5 | a0001c0001t0001g0002 a0001c0001t0001g0068 a0001c0001t0001g0069 others(2): Show |
5 | HG02109.hp2 HG02818.hp1 HG02976.hp1 others(2): Show |
intron_variant | MODIFIER | c.499-2013G>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 7/23 | chr19 | 16430774 | |||||||
| chr19:16430897 | A | G | 1 | a0001c0001t0001g0225 | 1 | NA18612.hp2 | intron_variant | MODIFIER | c.499-2136T>C | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 7/23 | chr19 | 16430897 | |||||||
| chr19:16430916 | T | C | 1 | a0001c0001t0001g0166 | 1 | HG01167.hp2 | intron_variant | MODIFIER | c.499-2155A>G | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 7/23 | chr19 | 16430916 | |||||||
| chr19:16431013 | C | T | 1 | a0001c0001t0001g0054 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.499-2252G>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 7/23 | chr19 | 16431013 | |||||||
| chr19:16431154 | G | T | 1 | a0001c0001t0001g0182 | 1 | HG01433.hp1 | intron_variant | MODIFIER | c.499-2393C>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 7/23 | chr19 | 16431154 | |||||||
| chr19:16431236 | C | CA | 52 | a0001c0001t0001g0004 a0001c0001t0001g0022 a0001c0001t0001g0041 others(49): Show |
52 | HG00099.hp1 HG00280.hp2 HG00323.hp1 others(49): Show |
intron_variant | MODIFIER | c.499-2476dupT | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 7/23 | chr19 | 16431236 | |||||||
| chr19:16431236 | CA | C | 7 | a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 others(4): Show |
7 | HG02257.hp2 HG02258.hp2 HG02922.hp1 others(4): Show |
intron_variant | MODIFIER | c.499-2476delT | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 7/23 | chr19 | 16431236 | |||||||
| chr19:16431959 | G | A | 2 | a0001c0001t0001g0062 a0001c0001t0001g0063 |
2 | NA18969.hp1 NA19068.hp1 |
intron_variant | MODIFIER | c.498+2406C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 7/23 | chr19 | 16431959 | |||||||
| chr19:16432004 | G | T | 5 | a0001c0001t0001g0002 a0001c0001t0001g0068 a0001c0001t0001g0069 others(2): Show |
5 | HG02109.hp2 HG02818.hp1 HG02976.hp1 others(2): Show |
intron_variant | MODIFIER | c.498+2361C>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 7/23 | chr19 | 16432004 | |||||||
| chr19:16432066 | T | G | 7 | a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 others(4): Show |
7 | HG02040.hp2 HG02135.hp2 NA18951.hp2 others(4): Show |
intron_variant | MODIFIER | c.498+2299A>C | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 7/23 | chr19 | 16432066 | |||||||
| chr19:16432215 | C | T | 1 | a0001c0001t0001g0250 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.498+2150G>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 7/23 | chr19 | 16432215 | |||||||
| chr19:16432472 | G | A | 1 | a0001c0001t0001g0108 | 1 | HG00323.hp2 | intron_variant | MODIFIER | c.498+1893C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 7/23 | chr19 | 16432472 | |||||||
| chr19:16432481 | C | T | 1 | a0001c0004t0001g0045 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.498+1884G>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 7/23 | chr19 | 16432481 | |||||||
| chr19:16432587 | TAAATAC | T | 47 | a0001c0001t0001g0004 a0001c0001t0001g0074 a0001c0001t0001g0075 others(44): Show |
47 | HG00408.hp1 HG00423.hp1 HG00544.hp1 others(44): Show |
intron_variant | MODIFIER | c.498+1772_498+1777d others(8): Show |
EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 7/23 | chr19 | 16432587 | |||||||
| chr19:16432587 | TAAATACA others(5): Show |
T | 39 | a0001c0001t0001g0002 a0001c0001t0001g0022 a0001c0001t0001g0041 others(36): Show |
39 | HG00280.hp2 HG00323.hp1 HG00423.hp2 others(36): Show |
intron_variant | MODIFIER | c.498+1766_498+1777d others(14): Show |
EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 7/23 | chr19 | 16432587 | |||||||
| chr19:16432634 | T | C | 68 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0023 others(65): Show |
68 | HG00408.hp1 HG00423.hp1 HG00544.hp1 others(65): Show |
intron_variant | MODIFIER | c.498+1731A>G | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 7/23 | chr19 | 16432634 | |||||||
| chr19:16432866 | G | A | 21 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(18): Show |
21 | HG01192.hp2 HG01243.hp1 HG01261.hp1 others(18): Show |
intron_variant | MODIFIER | c.498+1499C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 7/23 | chr19 | 16432866 | |||||||
| chr19:16432980 | A | AT | 35 | a0001c0001t0001g0022 a0001c0001t0001g0041 a0001c0001t0001g0042 others(32): Show |
35 | HG00280.hp2 HG00323.hp1 HG00423.hp2 others(32): Show |
intron_variant | MODIFIER | c.498+1384dupA | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 7/23 | chr19 | 16432980 | |||||||
| chr19:16433040 | G | A | 3 | a0001c0001t0001g0068 a0001c0001t0001g0071 a0001c0001t0001g0072 |
3 | HG02109.hp2 HG02818.hp1 HG03540.hp2 |
intron_variant | MODIFIER | c.498+1325C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 7/23 | chr19 | 16433040 | |||||||
| chr19:16433114 | T | C | 1 | a0001c0001t0001g0256 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.498+1251A>G | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 7/23 | chr19 | 16433114 | |||||||
| chr19:16433241 | T | C | 151 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(148): Show |
151 | HG00099.hp1 HG00280.hp2 HG00323.hp1 others(148): Show |
intron_variant | MODIFIER | c.498+1124A>G | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 7/23 | chr19 | 16433241 | |||||||
| chr19:16433268 | C | T | 2 | a0001c0001t0001g0074 a0001c0001t0001g0085 |
2 | NA18948.hp1 NA19079.hp1 |
intron_variant | MODIFIER | c.498+1097G>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 7/23 | chr19 | 16433268 | |||||||
| chr19:16433383 | C | A | 2 | a0001c0001t0001g0213 a0001c0001t0001g0229 |
2 | HG00544.hp2 NA19058.hp1 |
intron_variant | MODIFIER | c.498+982G>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 7/23 | chr19 | 16433383 | |||||||
| chr19:16433456 | T | C | 4 | a0001c0001t0001g0116 a0001c0001t0001g0173 a0001c0001t0001g0174 others(1): Show |
4 | HG01243.hp2 HG03491.hp1 HG03492.hp1 others(1): Show |
intron_variant | MODIFIER | c.498+909A>G | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 7/23 | chr19 | 16433456 | |||||||
| chr19:16433888 | G | T | 5 | a0001c0001t0001g0002 a0001c0001t0001g0068 a0001c0001t0001g0069 others(2): Show |
5 | HG02109.hp2 HG02818.hp1 HG02976.hp1 others(2): Show |
intron_variant | MODIFIER | c.498+477C>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 7/23 | chr19 | 16433888 | |||||||
| chr19:16433962 | C | CATAA | 103 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(100): Show |
103 | HG00280.hp2 HG00323.hp1 HG00408.hp1 others(100): Show |
intron_variant | MODIFIER | c.498+399_498+402dup others(4): Show |
EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 7/23 | chr19 | 16433962 | |||||||
| chr19:16433962 | C | CATAAATA others(1): Show |
5 | a0001c0001t0001g0024 a0001c0001t0001g0044 a0001c0001t0001g0054 others(2): Show |
5 | HG02965.hp2 HG03098.hp1 HG03704.hp2 others(2): Show |
intron_variant | MODIFIER | c.498+395_498+402dup others(8): Show |
EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 7/23 | chr19 | 16433962 | |||||||
| chr19:16433962 | C | CATAAATA others(5): Show |
1 | a0001c0001t0001g0033 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.498+391_498+402dup others(12): Show |
EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 7/23 | chr19 | 16433962 | |||||||
| chr19:16433962 | CATAA | C | 7 | a0001c0001t0001g0090 a0001c0001t0001g0230 a0001c0001t0002g0056 others(4): Show |
7 | HG00741.hp1 HG01074.hp2 HG01109.hp1 others(4): Show |
intron_variant | MODIFIER | c.498+399_498+402del others(4): Show |
EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 7/23 | chr19 | 16433962 | |||||||
| chr19:16433962 | CATAAATA others(1): Show |
C | 5 | a0001c0001t0001g0002 a0001c0001t0001g0068 a0001c0001t0001g0069 others(2): Show |
5 | HG02109.hp2 HG02818.hp1 HG02976.hp1 others(2): Show |
intron_variant | MODIFIER | c.498+395_498+402del others(8): Show |
EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 7/23 | chr19 | 16433962 | |||||||
| chr19:16434002 | C | G | 5 | a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 others(2): Show |
5 | HG02257.hp2 HG02258.hp2 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.498+363G>C | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 7/23 | chr19 | 16434002 | |||||||
| chr19:16434016 | C | T | 1 | a0001c0001t0001g0133 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.498+349G>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 7/23 | chr19 | 16434016 | |||||||
| chr19:16434067 | T | G | 15 | a0001c0001t0001g0001 a0001c0001t0001g0023 a0001c0001t0001g0024 others(12): Show |
15 | HG01109.hp2 HG02109.hp1 HG02572.hp2 others(12): Show |
intron_variant | MODIFIER | c.498+298A>C | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 7/23 | chr19 | 16434067 | |||||||
| chr19:16434236 | G | C | 1 | a0001c0001t0001g0259 | 1 | HG00099.hp1 | intron_variant | MODIFIER | c.498+129C>G | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 7/23 | chr19 | 16434236 | |||||||
| chr19:16434268 | G | A | 1 | a0001c0001t0001g0134 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.498+97C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 7/23 | chr19 | 16434268 | |||||||
| chr19:16434526 | G | A | 1 | a0001c0001t0001g0138 | 1 | HG02896.hp1 | intron_variant | MODIFIER | c.373-36C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 6/23 | chr19 | 16434526 | |||||||
| chr19:16434549 | C | G | 1 | a0001c0001t0001g0256 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.373-59G>C | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 6/23 | chr19 | 16434549 | |||||||
| chr19:16434550 | C | T | 1 | a0001c0001t0001g0064 | 1 | HG02080.hp2 | intron_variant | MODIFIER | c.373-60G>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 6/23 | chr19 | 16434550 | |||||||
| chr19:16434710 | AG | A | 5 | a0001c0001t0001g0196 a0001c0001t0001g0206 a0001c0001t0001g0207 others(2): Show |
5 | HG00621.hp2 NA18940.hp1 NA18971.hp1 others(2): Show |
intron_variant | MODIFIER | c.373-221delC | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 6/23 | chr19 | 16434710 | |||||||
| chr19:16434935 | CT | C | 56 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(53): Show |
56 | HG00099.hp1 HG00323.hp2 HG00735.hp2 others(53): Show |
intron_variant | MODIFIER | c.373-446delA | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 6/23 | chr19 | 16434935 | |||||||
| chr19:16435194 | C | T | 3 | a0001c0001t0001g0116 a0001c0001t0001g0173 a0001c0001t0001g0174 |
3 | HG01243.hp2 HG03491.hp1 HG03492.hp1 |
intron_variant | MODIFIER | c.373-704G>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 6/23 | chr19 | 16435194 | |||||||
| chr19:16435316 | A | G | 69 | a0001c0001t0001g0001 a0001c0001t0001g0023 a0001c0001t0001g0024 others(66): Show |
69 | HG00423.hp1 HG00544.hp1 HG00609.hp2 others(66): Show |
intron_variant | MODIFIER | c.373-826T>C | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 6/23 | chr19 | 16435316 | |||||||
| chr19:16435498 | T | C | 2 | a0001c0001t0001g0266 a0001c0001t0001g0269 |
2 | NA19067.hp1 NA19077.hp1 |
intron_variant | MODIFIER | c.373-1008A>G | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 6/23 | chr19 | 16435498 | |||||||
| chr19:16435573 | A | G | 69 | a0001c0001t0001g0001 a0001c0001t0001g0023 a0001c0001t0001g0024 others(66): Show |
69 | HG00423.hp1 HG00544.hp1 HG00609.hp2 others(66): Show |
intron_variant | MODIFIER | c.373-1083T>C | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 6/23 | chr19 | 16435573 | |||||||
| chr19:16435651 | T | C | 1 | a0001c0001t0001g0191 | 1 | HG02602.hp1 | intron_variant | MODIFIER | c.373-1161A>G | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 6/23 | chr19 | 16435651 | |||||||
| chr19:16435656 | CG | C | 67 | a0001c0001t0001g0001 a0001c0001t0001g0023 a0001c0001t0001g0024 others(64): Show |
67 | HG00423.hp1 HG00544.hp1 HG00609.hp2 others(64): Show |
intron_variant | MODIFIER | c.373-1167delC | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 6/23 | chr19 | 16435656 | |||||||
| chr19:16435698 | CAG | C | 14 | a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 others(11): Show |
14 | HG00099.hp1 HG00323.hp2 HG00735.hp2 others(11): Show |
intron_variant | MODIFIER | c.373-1210_373-1209d others(4): Show |
EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 6/23 | chr19 | 16435698 | |||||||
| chr19:16436158 | G | A | 35 | a0001c0001t0001g0022 a0001c0001t0001g0041 a0001c0001t0001g0042 others(32): Show |
35 | HG00280.hp2 HG00323.hp1 HG00423.hp2 others(32): Show |
intron_variant | MODIFIER | c.372+779C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 6/23 | chr19 | 16436158 | |||||||
| chr19:16436245 | A | G | 2 | a0001c0001t0001g0236 a0001c0001t0001g0237 |
2 | HG01109.hp2 HG02109.hp1 |
intron_variant | MODIFIER | c.372+692T>C | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 6/23 | chr19 | 16436245 | |||||||
| chr19:16436335 | C | A | 1 | a0001c0001t0001g0254 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.372+602G>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 6/23 | chr19 | 16436335 | |||||||
| chr19:16436336 | T | C | 4 | a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 others(1): Show |
4 | HG01070.hp2 HG01071.hp2 HG02922.hp2 others(1): Show |
intron_variant | MODIFIER | c.372+601A>G | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 6/23 | chr19 | 16436336 | |||||||
| chr19:16436507 | T | C | 19 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(16): Show |
19 | HG01192.hp2 HG01261.hp1 HG01346.hp1 others(16): Show |
intron_variant | MODIFIER | c.372+430A>G | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 6/23 | chr19 | 16436507 | |||||||
| chr19:16436719 | G | A | 5 | a0001c0001t0001g0002 a0001c0001t0001g0068 a0001c0001t0001g0069 others(2): Show |
5 | HG02109.hp2 HG02818.hp1 HG02976.hp1 others(2): Show |
intron_variant | MODIFIER | c.372+218C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 6/23 | chr19 | 16436719 | |||||||
| chr19:16436796 | G | A | 4 | a0001c0001t0002g0056 a0001c0001t0002g0058 a0001c0001t0002g0065 others(1): Show |
4 | HG01109.hp1 HG01175.hp1 HG02698.hp1 others(1): Show |
intron_variant | MODIFIER | c.372+141C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 6/23 | chr19 | 16436796 | |||||||
| chr19:16437118 | G | A | 2 | a0001c0001t0001g0214 a0001c0001t0001g0232 |
2 | HG01346.hp2 HG01934.hp1 |
intron_variant | MODIFIER | c.310-119C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 5/23 | chr19 | 16437118 | |||||||
| chr19:16437156 | T | A | 3 | a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 |
3 | HG02257.hp1 HG02559.hp1 NA18522.hp1 |
intron_variant | MODIFIER | c.310-157A>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 5/23 | chr19 | 16437156 | |||||||
| chr19:16437418 | G | A | 1 | a0001c0001t0001g0070 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.309+352C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 5/23 | chr19 | 16437418 | |||||||
| chr19:16437474 | G | A | 5 | a0001c0001t0001g0002 a0001c0001t0001g0068 a0001c0001t0001g0069 others(2): Show |
5 | HG02109.hp2 HG02818.hp1 HG02976.hp1 others(2): Show |
intron_variant | MODIFIER | c.309+296C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 5/23 | chr19 | 16437474 | |||||||
| chr19:16437564 | A | G | 124 | a0001c0001t0001g0003 a0001c0001t0001g0021 a0001c0001t0001g0038 others(121): Show |
124 | HG00099.hp2 HG00280.hp1 HG00408.hp2 others(121): Show |
intron_variant | MODIFIER | c.309+206T>C | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 5/23 | chr19 | 16437564 | |||||||
| chr19:16437654 | A | G | 2 | a0001c0001t0001g0023 a0001c0001t0001g0025 |
2 | HG03195.hp2 NA20300.hp1 |
intron_variant | MODIFIER | c.309+116T>C | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 5/23 | chr19 | 16437654 | |||||||
| chr19:16437686 | TACATGCA others(7): Show |
T | 4 | a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0071 others(1): Show |
4 | HG02109.hp2 HG02818.hp1 HG02976.hp1 others(1): Show |
intron_variant | MODIFIER | c.309+70_309+83delGT others(12): Show |
EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 5/23 | chr19 | 16437686 | |||||||
| chr19:16437900 | A | G | 1 | a0001c0001t0001g0049 | 1 | HG02083.hp1 | intron_variant | MODIFIER | c.214-35T>C | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 4/23 | chr19 | 16437900 | |||||||
| chr19:16437980 | C | A | 1 | a0001c0002t0001g0222 | 1 | HG01175.hp2 | intron_variant | MODIFIER | c.214-115G>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 4/23 | chr19 | 16437980 | |||||||
| chr19:16438059 | T | G | 5 | a0001c0001t0001g0002 a0001c0001t0001g0068 a0001c0001t0001g0069 others(2): Show |
5 | HG02109.hp2 HG02818.hp1 HG02976.hp1 others(2): Show |
intron_variant | MODIFIER | c.214-194A>C | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 4/23 | chr19 | 16438059 | |||||||
| chr19:16438073 | C | A | 2 | a0001c0001t0001g0190 a0001c0001t0001g0216 |
2 | NA18955.hp2 NA18960.hp2 |
intron_variant | MODIFIER | c.214-208G>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 4/23 | chr19 | 16438073 | |||||||
| chr19:16438233 | A | C | 15 | a0001c0001t0001g0001 a0001c0001t0001g0023 a0001c0001t0001g0024 others(12): Show |
15 | HG01109.hp2 HG02109.hp1 HG02572.hp2 others(12): Show |
intron_variant | MODIFIER | c.214-368T>G | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 4/23 | chr19 | 16438233 | |||||||
| chr19:16438428 | A | G | 5 | a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 others(2): Show |
5 | HG02257.hp2 HG02258.hp2 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.214-563T>C | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 4/23 | chr19 | 16438428 | |||||||
| chr19:16438848 | G | A | 1 | a0001c0001t0001g0018 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.214-983C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 4/23 | chr19 | 16438848 | |||||||
| chr19:16438859 | C | T | 34 | a0001c0001t0001g0022 a0001c0001t0001g0041 a0001c0001t0001g0042 others(31): Show |
34 | HG00280.hp2 HG00323.hp1 HG00423.hp2 others(31): Show |
intron_variant | MODIFIER | c.214-994G>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 4/23 | chr19 | 16438859 | |||||||
| chr19:16438968 | G | A | 1 | a0001c0001t0001g0002 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.214-1103C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 4/23 | chr19 | 16438968 | |||||||
| chr19:16439021 | C | T | 5 | a0001c0001t0001g0002 a0001c0001t0001g0068 a0001c0001t0001g0069 others(2): Show |
5 | HG02109.hp2 HG02818.hp1 HG02976.hp1 others(2): Show |
intron_variant | MODIFIER | c.214-1156G>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 4/23 | chr19 | 16439021 | |||||||
| chr19:16439072 | C | G | 14 | a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 others(11): Show |
14 | HG00099.hp1 HG00323.hp2 HG00735.hp2 others(11): Show |
intron_variant | MODIFIER | c.214-1207G>C | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 4/23 | chr19 | 16439072 | |||||||
| chr19:16439073 | TG | T | 13 | a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 others(10): Show |
13 | HG00099.hp1 HG00323.hp2 HG00735.hp2 others(10): Show |
intron_variant | MODIFIER | c.214-1209delC | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 4/23 | chr19 | 16439073 | |||||||
| chr19:16439074 | G | T | 1 | a0001c0001t0001g0258 | 1 | NA18962.hp2 | intron_variant | MODIFIER | c.214-1209C>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 4/23 | chr19 | 16439074 | |||||||
| chr19:16439079 | T | G | 69 | a0001c0001t0001g0001 a0001c0001t0001g0023 a0001c0001t0001g0024 others(66): Show |
69 | HG00423.hp1 HG00544.hp1 HG00609.hp2 others(66): Show |
intron_variant | MODIFIER | c.214-1214A>C | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 4/23 | chr19 | 16439079 | |||||||
| chr19:16439317 | A | G | 1 | a0001c0001t0001g0073 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.214-1452T>C | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 4/23 | chr19 | 16439317 | |||||||
| chr19:16439622 | T | C | 1 | a0001c0001t0001g0219 | 1 | HG01257.hp1 | intron_variant | MODIFIER | c.213+1240A>G | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 4/23 | chr19 | 16439622 | |||||||
| chr19:16439924 | A | AT | 6 | a0001c0001t0001g0002 a0001c0001t0001g0053 a0001c0001t0001g0077 others(3): Show |
6 | HG00733.hp1 HG02647.hp2 HG02683.hp1 others(3): Show |
intron_variant | MODIFIER | c.213+937dupA | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 4/23 | chr19 | 16439924 | |||||||
| chr19:16439924 | AT | A | 6 | a0001c0001t0001g0001 a0001c0001t0001g0097 a0001c0001t0001g0145 others(3): Show |
6 | HG01257.hp2 HG02280.hp2 HG02809.hp1 others(3): Show |
intron_variant | MODIFIER | c.213+937delA | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 4/23 | chr19 | 16439924 | |||||||
| chr19:16439924 | ATT | A | 19 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(16): Show |
19 | HG01192.hp2 HG01261.hp1 HG01346.hp1 others(16): Show |
intron_variant | MODIFIER | c.213+936_213+937del others(2): Show |
EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 4/23 | chr19 | 16439924 | |||||||
| chr19:16439996 | G | A | 3 | a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 |
3 | HG02896.hp2 HG02897.hp1 HG03516.hp1 |
intron_variant | MODIFIER | c.213+866C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 4/23 | chr19 | 16439996 | |||||||
| chr19:16440066 | CA | C | 95 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(92): Show |
95 | HG00099.hp1 HG00323.hp2 HG00423.hp1 others(92): Show |
intron_variant | MODIFIER | c.213+795delT | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 4/23 | chr19 | 16440066 | |||||||
| chr19:16440418 | G | C | 1 | a0001c0001t0001g0106 | 1 | NA19058.hp2 | intron_variant | MODIFIER | c.213+444C>G | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 4/23 | chr19 | 16440418 | |||||||
| chr19:16440576 | T | C | 2 | a0001c0001t0001g0172 a0001c0001t0001g0230 |
2 | HG01884.hp2 HG03579.hp2 |
intron_variant | MODIFIER | c.213+286A>G | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 4/23 | chr19 | 16440576 | |||||||
| chr19:16440722 | A | C | 1 | a0001c0001t0001g0265 | 1 | NA18961.hp2 | intron_variant | MODIFIER | c.213+140T>G | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 4/23 | chr19 | 16440722 | |||||||
| chr19:16441198 | C | T | 5 | a0001c0001t0001g0002 a0001c0001t0001g0068 a0001c0001t0001g0069 others(2): Show |
5 | HG02109.hp2 HG02818.hp1 HG02976.hp1 others(2): Show |
intron_variant | MODIFIER | c.166-289G>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 3/23 | chr19 | 16441198 | |||||||
| chr19:16441199 | G | A | 35 | a0001c0001t0001g0004 a0001c0001t0001g0022 a0001c0001t0001g0041 others(32): Show |
35 | HG00280.hp2 HG00323.hp1 HG00408.hp1 others(32): Show |
intron_variant | MODIFIER | c.166-290C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 3/23 | chr19 | 16441199 | |||||||
| chr19:16441340 | C | T | 7 | a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 others(4): Show |
7 | HG02280.hp1 HG02559.hp2 HG03139.hp1 others(4): Show |
intron_variant | MODIFIER | c.166-431G>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 3/23 | chr19 | 16441340 | |||||||
| chr19:16441484 | C | A | 19 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(16): Show |
19 | HG01192.hp2 HG01261.hp1 HG01346.hp1 others(16): Show |
intron_variant | MODIFIER | c.165+408G>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 3/23 | chr19 | 16441484 | |||||||
| chr19:16441485 | C | T | 4 | a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 others(1): Show |
4 | HG01070.hp2 HG01071.hp2 HG02922.hp2 others(1): Show |
intron_variant | MODIFIER | c.165+407G>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 3/23 | chr19 | 16441485 | |||||||
| chr19:16441486 | G | A | 2 | a0001c0001t0001g0062 a0001c0001t0001g0063 |
2 | NA18969.hp1 NA19068.hp1 |
intron_variant | MODIFIER | c.165+406C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 3/23 | chr19 | 16441486 | |||||||
| chr19:16441498 | A | G | 5 | a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 others(2): Show |
5 | HG02257.hp2 HG02258.hp2 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.165+394T>C | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 3/23 | chr19 | 16441498 | |||||||
| chr19:16441629 | C | CA | 43 | a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0010 others(40): Show |
43 | HG00280.hp2 HG00323.hp1 HG00408.hp1 others(40): Show |
intron_variant | MODIFIER | c.165+262dupT | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 3/23 | chr19 | 16441629 | |||||||
| chr19:16441629 | C | CAA | 16 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(13): Show |
16 | HG01192.hp2 HG01261.hp1 HG01346.hp1 others(13): Show |
intron_variant | MODIFIER | c.165+261_165+262dup others(2): Show |
EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 3/23 | chr19 | 16441629 | |||||||
| chr19:16441629 | CA | C | 14 | a0001c0001t0001g0002 a0001c0001t0001g0028 a0001c0001t0001g0029 others(11): Show |
14 | HG00323.hp2 HG01070.hp2 HG02109.hp2 others(11): Show |
intron_variant | MODIFIER | c.165+262delT | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 3/23 | chr19 | 16441629 | |||||||
| chr19:16441774 | A | G | 19 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(16): Show |
19 | HG01192.hp2 HG01261.hp1 HG01346.hp1 others(16): Show |
intron_variant | MODIFIER | c.165+118T>C | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 3/23 | chr19 | 16441774 | |||||||
| chr19:16441837 | G | C | 1 | a0001c0001t0001g0256 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.165+55C>G | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 3/23 | chr19 | 16441837 | |||||||
| chr19:16442103 | G | A | 35 | a0001c0001t0001g0004 a0001c0001t0001g0022 a0001c0001t0001g0041 others(32): Show |
35 | HG00280.hp2 HG00323.hp1 HG00408.hp1 others(32): Show |
intron_variant | MODIFIER | c.75+75C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 2/23 | chr19 | 16442103 | |||||||
| chr19:16442269 | G | A | 1 | a0001c0001t0001g0041 | 1 | HG03688.hp1 | intron_variant | MODIFIER | c.34-50C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16442269 | |||||||
| chr19:16442354 | C | T | 5 | a0001c0001t0001g0002 a0001c0001t0001g0068 a0001c0001t0001g0069 others(2): Show |
5 | HG02109.hp2 HG02818.hp1 HG02976.hp1 others(2): Show |
intron_variant | MODIFIER | c.34-135G>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16442354 | |||||||
| chr19:16442478 | G | C | 17 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(14): Show |
17 | HG01192.hp2 HG01261.hp1 HG01346.hp1 others(14): Show |
intron_variant | MODIFIER | c.34-259C>G | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16442478 | |||||||
| chr19:16442747 | G | A | 19 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(16): Show |
19 | HG01192.hp2 HG01261.hp1 HG01346.hp1 others(16): Show |
intron_variant | MODIFIER | c.34-528C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16442747 | |||||||
| chr19:16442791 | G | A | 1 | a0001c0001t0002g0057 | 1 | HG01074.hp2 | intron_variant | MODIFIER | c.34-572C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16442791 | |||||||
| chr19:16442965 | G | A | 4 | a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 others(1): Show |
4 | HG01070.hp2 HG01071.hp2 HG02922.hp2 others(1): Show |
intron_variant | MODIFIER | c.34-746C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16442965 | |||||||
| chr19:16443411 | C | CT | 19 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(16): Show |
19 | HG01192.hp2 HG01261.hp1 HG01346.hp1 others(16): Show |
intron_variant | MODIFIER | c.34-1193dupA | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16443411 | |||||||
| chr19:16443487 | T | G | 1 | a0001c0001t0001g0191 | 1 | HG02602.hp1 | intron_variant | MODIFIER | c.34-1268A>C | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16443487 | |||||||
| chr19:16443624 | C | T | 9 | a0001c0001t0001g0067 a0001c0001t0001g0108 a0001c0001t0001g0146 others(6): Show |
9 | HG00099.hp1 HG00323.hp2 HG00735.hp2 others(6): Show |
intron_variant | MODIFIER | c.34-1405G>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16443624 | |||||||
| chr19:16443642 | G | A | 3 | a0001c0001t0001g0087 a0001c0001t0001g0098 a0001c0001t0001g0100 |
3 | HG02155.hp1 NA18940.hp2 NA19085.hp2 |
intron_variant | MODIFIER | c.34-1423C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16443642 | |||||||
| chr19:16443717 | A | G | 36 | a0001c0001t0001g0004 a0001c0001t0001g0022 a0001c0001t0001g0041 others(33): Show |
36 | HG00280.hp2 HG00323.hp1 HG00408.hp1 others(33): Show |
intron_variant | MODIFIER | c.34-1498T>C | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16443717 | |||||||
| chr19:16443879 | A | G | 1 | a0001c0001t0001g0067 | 1 | HG00735.hp2 | intron_variant | MODIFIER | c.34-1660T>C | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16443879 | |||||||
| chr19:16444032 | C | T | 1 | a0001c0001t0002g0057 | 1 | HG01074.hp2 | intron_variant | MODIFIER | c.34-1813G>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16444032 | |||||||
| chr19:16444051 | G | A | 15 | a0001c0001t0001g0001 a0001c0001t0001g0023 a0001c0001t0001g0024 others(12): Show |
15 | HG01109.hp2 HG02109.hp1 HG02572.hp2 others(12): Show |
intron_variant | MODIFIER | c.34-1832C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16444051 | |||||||
| chr19:16444058 | C | T | 1 | a0001c0001t0001g0250 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.34-1839G>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16444058 | |||||||
| chr19:16444062 | T | A | 1 | a0001c0001t0001g0271 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.34-1843A>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16444062 | |||||||
| chr19:16444063 | C | A | 1 | a0001c0001t0001g0271 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.34-1844G>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16444063 | |||||||
| chr19:16444063 | C | CA | 16 | a0001c0001t0001g0019 a0001c0001t0001g0059 a0001c0001t0001g0064 others(13): Show |
16 | HG00423.hp2 HG02080.hp2 HG02148.hp1 others(13): Show |
intron_variant | MODIFIER | c.34-1845dupT | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16444063 | |||||||
| chr19:16444063 | C | CAA | 23 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(20): Show |
23 | HG01192.hp2 HG01261.hp1 HG01346.hp1 others(20): Show |
intron_variant | MODIFIER | c.34-1846_34-1845dup others(2): Show |
EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16444063 | |||||||
| chr19:16444171 | C | CA | 38 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(35): Show |
38 | HG00099.hp1 HG00323.hp2 HG00735.hp2 others(35): Show |
intron_variant | MODIFIER | c.34-1953dupT | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16444171 | |||||||
| chr19:16444171 | CA | C | 9 | a0001c0001t0001g0063 a0001c0001t0001g0101 a0001c0001t0001g0173 others(6): Show |
9 | HG01074.hp1 HG01167.hp1 HG02055.hp1 others(6): Show |
intron_variant | MODIFIER | c.34-1953delT | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16444171 | |||||||
| chr19:16444342 | A | C | 173 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(170): Show |
173 | HG00099.hp1 HG00280.hp2 HG00323.hp1 others(170): Show |
intron_variant | MODIFIER | c.34-2123T>G | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16444342 | |||||||
| chr19:16444352 | C | T | 1 | a0001c0001t0001g0044 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.34-2133G>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16444352 | |||||||
| chr19:16444562 | T | G | 1 | a0001c0001t0001g0049 | 1 | HG02083.hp1 | intron_variant | MODIFIER | c.34-2343A>C | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16444562 | |||||||
| chr19:16444700 | C | G | 1 | a0001c0001t0001g0054 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.34-2481G>C | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16444700 | |||||||
| chr19:16444727 | G | GT | 42 | a0001c0001t0001g0004 a0001c0001t0001g0022 a0001c0001t0001g0041 others(39): Show |
42 | HG00280.hp2 HG00323.hp1 HG00408.hp1 others(39): Show |
intron_variant | MODIFIER | c.34-2509dupA | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16444727 | |||||||
| chr19:16444874 | G | A | 19 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(16): Show |
19 | HG01192.hp2 HG01261.hp1 HG01346.hp1 others(16): Show |
intron_variant | MODIFIER | c.34-2655C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16444874 | |||||||
| chr19:16445011 | G | A | 19 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(16): Show |
19 | HG01192.hp2 HG01261.hp1 HG01346.hp1 others(16): Show |
intron_variant | MODIFIER | c.34-2792C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16445011 | |||||||
| chr19:16445174 | G | A | 35 | a0001c0001t0001g0004 a0001c0001t0001g0022 a0001c0001t0001g0041 others(32): Show |
35 | HG00280.hp2 HG00323.hp1 HG00408.hp1 others(32): Show |
intron_variant | MODIFIER | c.34-2955C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16445174 | |||||||
| chr19:16445286 | A | C | 1 | a0001c0001t0001g0047 | 1 | NA19002.hp1 | intron_variant | MODIFIER | c.34-3067T>G | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16445286 | |||||||
| chr19:16445411 | G | C | 14 | a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 others(11): Show |
14 | HG00099.hp1 HG00323.hp2 HG00735.hp2 others(11): Show |
intron_variant | MODIFIER | c.34-3192C>G | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16445411 | |||||||
| chr19:16445629 | G | T | 1 | a0001c0001t0001g0116 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.34-3410C>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16445629 | |||||||
| chr19:16445642 | G | C | 2 | a0001c0001t0001g0062 a0001c0001t0001g0063 |
2 | NA18969.hp1 NA19068.hp1 |
intron_variant | MODIFIER | c.34-3423C>G | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16445642 | |||||||
| chr19:16445810 | T | C | 36 | a0001c0001t0001g0004 a0001c0001t0001g0022 a0001c0001t0001g0041 others(33): Show |
36 | HG00280.hp2 HG00323.hp1 HG00408.hp1 others(33): Show |
intron_variant | MODIFIER | c.34-3591A>G | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16445810 | |||||||
| chr19:16445815 | C | T | 2 | a0001c0004t0001g0045 a0001c0004t0001g0046 |
2 | HG02886.hp2 NA20129.hp1 |
intron_variant | MODIFIER | c.34-3596G>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16445815 | |||||||
| chr19:16445883 | T | C | 16 | a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0243 others(13): Show |
16 | HG00280.hp2 HG00733.hp1 HG01167.hp1 others(13): Show |
intron_variant | MODIFIER | c.34-3664A>G | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16445883 | |||||||
| chr19:16445929 | G | A | 19 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(16): Show |
19 | HG01192.hp2 HG01261.hp1 HG01346.hp1 others(16): Show |
intron_variant | MODIFIER | c.34-3710C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16445929 | |||||||
| chr19:16446024 | T | C | 5 | a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 others(2): Show |
5 | HG02257.hp2 HG02258.hp2 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.34-3805A>G | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16446024 | |||||||
| chr19:16446117 | T | C | 1 | a0001c0001t0001g0125 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.34-3898A>G | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16446117 | |||||||
| chr19:16446384 | C | T | 1 | a0001c0001t0001g0253 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.34-4165G>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16446384 | |||||||
| chr19:16446716 | C | A | 2 | a0001c0004t0001g0045 a0001c0004t0001g0046 |
2 | HG02886.hp2 NA20129.hp1 |
intron_variant | MODIFIER | c.34-4497G>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16446716 | |||||||
| chr19:16446771 | G | A | 1 | a0001c0001t0001g0004 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.34-4552C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16446771 | |||||||
| chr19:16446785 | T | C | 1 | a0001c0001t0001g0104 | 1 | NA18945.hp2 | intron_variant | MODIFIER | c.34-4566A>G | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16446785 | |||||||
| chr19:16446945 | A | G | 6 | a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 others(3): Show |
6 | HG00558.hp2 HG02080.hp1 NA19002.hp2 others(3): Show |
intron_variant | MODIFIER | c.34-4726T>C | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16446945 | |||||||
| chr19:16447285 | T | G | 1 | a0001c0001t0001g0021 | 1 | HG03491.hp2 | intron_variant | MODIFIER | c.34-5066A>C | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16447285 | |||||||
| chr19:16447419 | G | A | 1 | a0001c0001t0001g0263 | 1 | NA18949.hp1 | intron_variant | MODIFIER | c.34-5200C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16447419 | |||||||
| chr19:16447692 | G | A | 2 | a0001c0001t0001g0142 a0001c0001t0001g0143 |
2 | HG00609.hp1 HG02040.hp1 |
intron_variant | MODIFIER | c.34-5473C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16447692 | |||||||
| chr19:16447763 | A | G | 1 | a0001c0001t0001g0027 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.34-5544T>C | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16447763 | |||||||
| chr19:16447955 | C | A | 153 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(150): Show |
153 | HG00099.hp1 HG00280.hp2 HG00323.hp1 others(150): Show |
intron_variant | MODIFIER | c.34-5736G>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16447955 | |||||||
| chr19:16448297 | G | A | 70 | a0001c0001t0001g0001 a0001c0001t0001g0023 a0001c0001t0001g0024 others(67): Show |
70 | HG00423.hp1 HG00544.hp1 HG00609.hp2 others(67): Show |
intron_variant | MODIFIER | c.34-6078C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16448297 | |||||||
| chr19:16448401 | A | G | 1 | a0001c0001t0001g0202 | 1 | NA20752.hp1 | intron_variant | MODIFIER | c.34-6182T>C | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16448401 | |||||||
| chr19:16448547 | A | AG | 19 | a0001c0001t0001g0002 a0001c0001t0001g0014 a0001c0001t0001g0044 others(16): Show |
19 | HG00609.hp2 HG00621.hp1 HG00621.hp2 others(16): Show |
intron_variant | MODIFIER | c.34-6329dupC | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16448547 | |||||||
| chr19:16448547 | A | AGG | 29 | a0001c0001t0001g0001 a0001c0001t0001g0024 a0001c0001t0001g0025 others(26): Show |
29 | HG00280.hp2 HG00733.hp1 HG01074.hp2 others(26): Show |
intron_variant | MODIFIER | c.34-6330_34-6329dup others(2): Show |
EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16448547 | |||||||
| chr19:16448547 | A | AGGG | 17 | a0001c0001t0001g0004 a0001c0001t0001g0022 a0001c0001t0001g0023 others(14): Show |
17 | HG00408.hp1 HG00423.hp2 HG01109.hp1 others(14): Show |
intron_variant | MODIFIER | c.34-6331_34-6329dup others(3): Show |
EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16448547 | |||||||
| chr19:16448550 | G | T | 1 | a0001c0001t0001g0166 | 1 | HG01167.hp2 | intron_variant | MODIFIER | c.34-6331C>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16448550 | |||||||
| chr19:16448557 | A | G | 139 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(136): Show |
139 | HG00280.hp2 HG00323.hp1 HG00408.hp1 others(136): Show |
intron_variant | MODIFIER | c.34-6338T>C | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16448557 | |||||||
| chr19:16448568 | G | T | 19 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(16): Show |
19 | HG01192.hp2 HG01261.hp1 HG01346.hp1 others(16): Show |
intron_variant | MODIFIER | c.34-6349C>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16448568 | |||||||
| chr19:16448610 | A | G | 153 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(150): Show |
153 | HG00099.hp1 HG00280.hp2 HG00323.hp1 others(150): Show |
intron_variant | MODIFIER | c.34-6391T>C | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16448610 | |||||||
| chr19:16448660 | A | G | 2 | a0001c0001t0001g0148 a0001c0001t0001g0149 |
2 | HG02572.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.34-6441T>C | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16448660 | |||||||
| chr19:16448783 | T | C | 1 | a0001c0001t0001g0131 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.34-6564A>G | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16448783 | |||||||
| chr19:16448824 | C | T | 5 | a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 others(2): Show |
5 | HG02257.hp2 HG02258.hp2 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.34-6605G>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16448824 | |||||||
| chr19:16448938 | A | C | 5 | a0001c0001t0001g0159 a0001c0001t0001g0192 a0001c0001t0001g0199 others(2): Show |
5 | HG02015.hp2 HG02027.hp2 NA18962.hp1 others(2): Show |
intron_variant | MODIFIER | c.34-6719T>G | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16448938 | |||||||
| chr19:16448987 | G | A | 1 | a0001c0005t0009g0257 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.34-6768C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16448987 | |||||||
| chr19:16449082 | TG | T | 5 | a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 others(2): Show |
5 | HG02257.hp2 HG02258.hp2 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.34-6864delC | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16449082 | |||||||
| chr19:16449137 | C | T | 1 | a0001c0001t0001g0035 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.34-6918G>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16449137 | |||||||
| chr19:16449247 | A | AAAAC | 5 | a0001c0001t0001g0002 a0001c0001t0001g0068 a0001c0001t0001g0069 others(2): Show |
5 | HG02109.hp2 HG02818.hp1 HG02976.hp1 others(2): Show |
intron_variant | MODIFIER | c.34-7032_34-7029dup others(4): Show |
EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16449247 | |||||||
| chr19:16449247 | AAAAC | A | 44 | a0001c0001t0001g0001 a0001c0001t0001g0021 a0001c0001t0001g0022 others(41): Show |
44 | HG00323.hp1 HG00423.hp2 HG00639.hp1 others(41): Show |
intron_variant | MODIFIER | c.34-7032_34-7029del others(4): Show |
EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16449247 | |||||||
| chr19:16449583 | C | A | 53 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(50): Show |
53 | HG00280.hp2 HG00323.hp1 HG00423.hp2 others(50): Show |
intron_variant | MODIFIER | c.34-7364G>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16449583 | |||||||
| chr19:16449592 | CA | C | 19 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(16): Show |
19 | HG01192.hp2 HG01261.hp1 HG01346.hp1 others(16): Show |
intron_variant | MODIFIER | c.34-7374delT | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16449592 | |||||||
| chr19:16449671 | G | C | 1 | a0001c0001t0001g0232 | 1 | HG01346.hp2 | intron_variant | MODIFIER | c.34-7452C>G | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16449671 | |||||||
| chr19:16449705 | G | C | 1 | a0001c0001t0001g0215 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.34-7486C>G | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16449705 | |||||||
| chr19:16449844 | T | C | 2 | a0001c0001t0001g0236 a0001c0001t0001g0237 |
2 | HG01109.hp2 HG02109.hp1 |
intron_variant | MODIFIER | c.34-7625A>G | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16449844 | |||||||
| chr19:16449903 | A | G | 1 | a0001c0001t0001g0021 | 1 | HG03491.hp2 | intron_variant | MODIFIER | c.34-7684T>C | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16449903 | |||||||
| chr19:16449982 | G | A | 1 | a0001c0001t0001g0041 | 1 | HG03688.hp1 | intron_variant | MODIFIER | c.34-7763C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16449982 | |||||||
| chr19:16449993 | A | G | 19 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(16): Show |
19 | HG01192.hp2 HG01261.hp1 HG01346.hp1 others(16): Show |
intron_variant | MODIFIER | c.34-7774T>C | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16449993 | |||||||
| chr19:16449998 | T | A | 5 | a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 others(2): Show |
5 | HG02257.hp2 HG02258.hp2 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.34-7779A>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16449998 | |||||||
| chr19:16450046 | C | T | 1 | a0001c0001t0001g0101 | 1 | NA18999.hp1 | intron_variant | MODIFIER | c.34-7827G>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16450046 | |||||||
| chr19:16450085 | C | CA | 32 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(29): Show |
32 | HG00099.hp1 HG00323.hp2 HG00735.hp2 others(29): Show |
intron_variant | MODIFIER | c.34-7867dupT | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16450085 | |||||||
| chr19:16450099 | T | A | 36 | a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 others(33): Show |
36 | HG00280.hp2 HG00323.hp1 HG00423.hp2 others(33): Show |
intron_variant | MODIFIER | c.34-7880A>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16450099 | |||||||
| chr19:16450188 | A | T | 1 | a0001c0001t0001g0244 | 1 | HG00733.hp1 | intron_variant | MODIFIER | c.34-7969T>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16450188 | |||||||
| chr19:16450276 | C | T | 3 | a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0249 |
3 | HG00280.hp2 HG00733.hp1 HG03710.hp1 |
intron_variant | MODIFIER | c.34-8057G>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16450276 | |||||||
| chr19:16450477 | C | CT | 50 | a0001c0001t0001g0022 a0001c0001t0001g0041 a0001c0001t0001g0042 others(47): Show |
50 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(47): Show |
intron_variant | MODIFIER | c.34-8259dupA | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16450477 | |||||||
| chr19:16450477 | C | CTT | 89 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(86): Show |
89 | HG00408.hp1 HG00423.hp1 HG00544.hp1 others(86): Show |
intron_variant | MODIFIER | c.34-8260_34-8259dup others(2): Show |
EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16450477 | |||||||
| chr19:16450477 | C | CTTT | 12 | a0001c0001t0001g0006 a0001c0001t0001g0010 a0001c0001t0001g0012 others(9): Show |
12 | HG00735.hp2 HG01928.hp2 HG01978.hp1 others(9): Show |
intron_variant | MODIFIER | c.34-8261_34-8259dup others(3): Show |
EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16450477 | |||||||
| chr19:16450477 | CTTTTTTT others(5): Show |
C | 1 | a0001c0007t0008g0048 | 1 | HG02027.hp1 | intron_variant | MODIFIER | c.34-8270_34-8259del others(12): Show |
EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16450477 | |||||||
| chr19:16450612 | C | A | 5 | a0001c0001t0001g0002 a0001c0001t0001g0068 a0001c0001t0001g0069 others(2): Show |
5 | HG02109.hp2 HG02818.hp1 HG02976.hp1 others(2): Show |
intron_variant | MODIFIER | c.34-8393G>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16450612 | |||||||
| chr19:16450758 | C | T | 1 | a0001c0001t0001g0164 | 1 | HG01433.hp2 | intron_variant | MODIFIER | c.34-8539G>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16450758 | |||||||
| chr19:16450785 | G | T | 16 | a0001c0001t0001g0070 a0001c0001t0001g0126 a0001c0001t0001g0127 others(13): Show |
16 | HG01934.hp2 HG02258.hp1 HG02451.hp2 others(13): Show |
intron_variant | MODIFIER | c.34-8566C>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16450785 | |||||||
| chr19:16450795 | A | G | 5 | a0001c0001t0001g0002 a0001c0001t0001g0068 a0001c0001t0001g0069 others(2): Show |
5 | HG02109.hp2 HG02818.hp1 HG02976.hp1 others(2): Show |
intron_variant | MODIFIER | c.34-8576T>C | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16450795 | |||||||
| chr19:16450898 | T | C | 19 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(16): Show |
19 | HG01192.hp2 HG01261.hp1 HG01346.hp1 others(16): Show |
intron_variant | MODIFIER | c.34-8679A>G | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16450898 | |||||||
| chr19:16450957 | C | CT | 19 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(16): Show |
19 | HG01192.hp2 HG01261.hp1 HG01346.hp1 others(16): Show |
intron_variant | MODIFIER | c.34-8739dupA | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16450957 | |||||||
| chr19:16450963 | T | A | 1 | a0001c0001t0001g0256 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.34-8744A>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16450963 | |||||||
| chr19:16450982 | G | A | 2 | a0001c0001t0001g0103 a0001c0001t0001g0104 |
2 | HG04184.hp2 NA18945.hp2 |
intron_variant | MODIFIER | c.34-8763C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16450982 | |||||||
| chr19:16451036 | C | T | 2 | a0001c0001t0001g0042 a0001c0001t0001g0059 |
2 | HG00423.hp2 NA18943.hp1 |
intron_variant | MODIFIER | c.34-8817G>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16451036 | |||||||
| chr19:16451212 | A | C | 1 | a0001c0001t0001g0022 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.34-8993T>G | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16451212 | |||||||
| chr19:16451214 | G | C | 2 | a0001c0004t0001g0045 a0001c0004t0001g0046 |
2 | HG02886.hp2 NA20129.hp1 |
intron_variant | MODIFIER | c.34-8995C>G | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16451214 | |||||||
| chr19:16451241 | G | A | 5 | a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 others(2): Show |
5 | HG02257.hp2 HG02258.hp2 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.34-9022C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16451241 | |||||||
| chr19:16451469 | AAACGGTC others(43): Show |
A | 1 | a0001c0001t0001g0256 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.34-9300_34-9251del others(50): Show |
EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16451469 | |||||||
| chr19:16451529 | A | T | 1 | a0001c0002t0001g0222 | 1 | HG01175.hp2 | intron_variant | MODIFIER | c.34-9310T>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16451529 | |||||||
| chr19:16451537 | T | A | 19 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(16): Show |
19 | HG01192.hp2 HG01261.hp1 HG01346.hp1 others(16): Show |
intron_variant | MODIFIER | c.34-9318A>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16451537 | |||||||
| chr19:16451557 | T | C | 54 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(51): Show |
54 | HG00280.hp2 HG00323.hp1 HG00408.hp1 others(51): Show |
intron_variant | MODIFIER | c.34-9338A>G | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16451557 | |||||||
| chr19:16451705 | T | A | 1 | a0001c0001t0001g0261 | 1 | HG04115.hp2 | intron_variant | MODIFIER | c.34-9486A>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16451705 | |||||||
| chr19:16451780 | C | T | 1 | a0001c0001t0001g0251 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.34-9561G>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16451780 | |||||||
| chr19:16451804 | C | T | 1 | a0001c0001t0001g0127 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.34-9585G>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16451804 | |||||||
| chr19:16451808 | C | T | 17 | a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 others(14): Show |
17 | HG00099.hp1 HG00323.hp2 HG00735.hp2 others(14): Show |
intron_variant | MODIFIER | c.34-9589G>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16451808 | |||||||
| chr19:16451903 | C | T | 3 | a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 |
3 | HG01070.hp2 HG01071.hp2 HG03195.hp1 |
intron_variant | MODIFIER | c.34-9684G>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16451903 | |||||||
| chr19:16451918 | C | A | 1 | a0001c0001t0001g0229 | 1 | NA19058.hp1 | intron_variant | MODIFIER | c.34-9699G>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16451918 | |||||||
| chr19:16452071 | G | A | 3 | a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0272 |
3 | HG01109.hp2 HG02109.hp1 HG02965.hp1 |
intron_variant | MODIFIER | c.34-9852C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16452071 | |||||||
| chr19:16452077 | T | C | 7 | a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 others(4): Show |
7 | HG02280.hp1 HG02559.hp2 HG03139.hp1 others(4): Show |
intron_variant | MODIFIER | c.34-9858A>G | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16452077 | |||||||
| chr19:16452216 | T | C | 155 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(152): Show |
155 | HG00099.hp1 HG00280.hp2 HG00323.hp1 others(152): Show |
intron_variant | MODIFIER | c.34-9997A>G | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16452216 | |||||||
| chr19:16452371 | G | A | 1 | a0001c0001t0001g0232 | 1 | HG01346.hp2 | intron_variant | MODIFIER | c.34-10152C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16452371 | |||||||
| chr19:16452382 | T | G | 1 | a0001c0001t0001g0229 | 1 | NA19058.hp1 | intron_variant | MODIFIER | c.34-10163A>C | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16452382 | |||||||
| chr19:16452446 | C | T | 1 | a0001c0001t0001g0134 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.34-10227G>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16452446 | |||||||
| chr19:16452447 | G | GA | 16 | a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0067 others(13): Show |
16 | HG00099.hp1 HG00323.hp2 HG00621.hp2 others(13): Show |
intron_variant | MODIFIER | c.34-10229dupT | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16452447 | |||||||
| chr19:16452526 | A | G | 7 | a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 others(4): Show |
7 | HG01884.hp1 HG02055.hp1 HG02615.hp1 others(4): Show |
intron_variant | MODIFIER | c.34-10307T>C | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16452526 | |||||||
| chr19:16452604 | G | T | 1 | a0001c0001t0001g0250 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.34-10385C>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16452604 | |||||||
| chr19:16452633 | GA | G | 98 | a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0006 others(95): Show |
98 | HG00099.hp1 HG00423.hp1 HG00544.hp1 others(95): Show |
intron_variant | MODIFIER | c.34-10415delT | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16452633 | |||||||
| chr19:16452633 | GAA | G | 18 | a0001c0001t0001g0001 a0001c0001t0001g0023 a0001c0001t0001g0024 others(15): Show |
18 | HG00323.hp2 HG01109.hp2 HG02109.hp1 others(15): Show |
intron_variant | MODIFIER | c.34-10416_34-10415d others(4): Show |
EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16452633 | |||||||
| chr19:16452860 | G | A | 1 | a0001c0001t0001g0251 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.34-10641C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16452860 | |||||||
| chr19:16452897 | T | C | 154 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(151): Show |
154 | HG00099.hp1 HG00280.hp2 HG00323.hp1 others(151): Show |
intron_variant | MODIFIER | c.34-10678A>G | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16452897 | |||||||
| chr19:16452898 | G | A | 4 | a0001c0001t0001g0081 a0001c0001t0001g0102 a0001c0001t0001g0103 others(1): Show |
4 | HG04184.hp2 NA18945.hp2 NA18955.hp1 others(1): Show |
intron_variant | MODIFIER | c.34-10679C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16452898 | |||||||
| chr19:16452916 | C | A | 1 | a0001c0001t0001g0161 | 1 | HG00099.hp2 | intron_variant | MODIFIER | c.34-10697G>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16452916 | |||||||
| chr19:16453052 | G | A | 1 | a0001c0001t0001g0250 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.34-10833C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16453052 | |||||||
| chr19:16453096 | G | A | 1 | a0001c0001t0001g0194 | 1 | HG02165.hp2 | intron_variant | MODIFIER | c.34-10877C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16453096 | |||||||
| chr19:16453161 | G | A | 1 | a0001c0001t0001g0139 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.34-10942C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16453161 | |||||||
| chr19:16453574 | G | A | 2 | a0001c0001t0001g0105 a0001c0001t0001g0106 |
2 | NA18966.hp1 NA19058.hp2 |
intron_variant | MODIFIER | c.34-11355C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16453574 | |||||||
| chr19:16453627 | G | A | 1 | a0001c0001t0001g0049 | 1 | HG02083.hp1 | intron_variant | MODIFIER | c.34-11408C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16453627 | |||||||
| chr19:16453692 | G | A | 2 | a0001c0001t0001g0253 a0001c0001t0001g0254 |
2 | HG02257.hp2 HG03453.hp2 |
intron_variant | MODIFIER | c.34-11473C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16453692 | |||||||
| chr19:16453721 | G | GA | 14 | a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 others(11): Show |
14 | HG00280.hp2 HG00733.hp1 HG01167.hp1 others(11): Show |
intron_variant | MODIFIER | c.34-11503dupT | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16453721 | |||||||
| chr19:16453808 | A | G | 1 | a0001c0001t0001g0147 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.34-11589T>C | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16453808 | |||||||
| chr19:16453886 | T | TA | 11 | a0001c0001t0001g0121 a0001c0001t0001g0162 a0001c0001t0001g0170 others(8): Show |
11 | HG00408.hp2 HG01496.hp1 HG02148.hp1 others(8): Show |
intron_variant | MODIFIER | c.34-11668dupT | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16453886 | |||||||
| chr19:16453886 | TA | T | 85 | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 others(82): Show |
85 | HG00099.hp1 HG00280.hp2 HG00323.hp1 others(82): Show |
intron_variant | MODIFIER | c.34-11668delT | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16453886 | |||||||
| chr19:16453886 | TAA | T | 66 | a0001c0001t0001g0001 a0001c0001t0001g0023 a0001c0001t0001g0024 others(63): Show |
66 | HG00423.hp1 HG00544.hp1 HG00609.hp2 others(63): Show |
intron_variant | MODIFIER | c.34-11669_34-11668d others(4): Show |
EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16453886 | |||||||
| chr19:16453887 | A | T | 1 | a0001c0001t0001g0219 | 1 | HG01257.hp1 | intron_variant | MODIFIER | c.34-11668T>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16453887 | |||||||
| chr19:16454363 | C | T | 1 | a0001c0004t0001g0045 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.34-12144G>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16454363 | |||||||
| chr19:16454372 | A | G | 15 | a0001c0001t0001g0001 a0001c0001t0001g0023 a0001c0001t0001g0024 others(12): Show |
15 | HG01109.hp2 HG02109.hp1 HG02572.hp2 others(12): Show |
intron_variant | MODIFIER | c.34-12153T>C | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16454372 | |||||||
| chr19:16454819 | C | CT | 16 | a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 others(13): Show |
16 | HG00099.hp1 HG00323.hp2 HG00735.hp2 others(13): Show |
intron_variant | MODIFIER | c.34-12601dupA | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16454819 | |||||||
| chr19:16455088 | C | A | 1 | a0001c0005t0009g0257 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.34-12869G>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16455088 | |||||||
| chr19:16455090 | T | C | 72 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0023 others(69): Show |
72 | HG00408.hp1 HG00423.hp1 HG00544.hp1 others(69): Show |
intron_variant | MODIFIER | c.34-12871A>G | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16455090 | |||||||
| chr19:16455183 | C | T | 46 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(43): Show |
46 | HG00323.hp1 HG00423.hp2 HG00639.hp1 others(43): Show |
intron_variant | MODIFIER | c.34-12964G>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16455183 | |||||||
| chr19:16455312 | TG | T | 153 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(150): Show |
153 | HG00099.hp1 HG00280.hp2 HG00323.hp1 others(150): Show |
intron_variant | MODIFIER | c.34-13094delC | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16455312 | |||||||
| chr19:16455456 | T | C | 1 | a0001c0001t0001g0073 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.34-13237A>G | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16455456 | |||||||
| chr19:16455481 | G | A | 1 | a0001c0001t0001g0108 | 1 | HG00323.hp2 | intron_variant | MODIFIER | c.34-13262C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16455481 | |||||||
| chr19:16455766 | A | G | 1 | a0001c0001t0001g0226 | 1 | HG00621.hp1 | intron_variant | MODIFIER | c.34-13547T>C | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16455766 | |||||||
| chr19:16455886 | C | A | 1 | a0001c0001t0001g0052 | 1 | NA19066.hp1 | intron_variant | MODIFIER | c.34-13667G>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16455886 | |||||||
| chr19:16455927 | G | A | 1 | a0001c0001t0001g0261 | 1 | HG04115.hp2 | intron_variant | MODIFIER | c.34-13708C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16455927 | |||||||
| chr19:16456148 | C | T | 5 | a0001c0001t0001g0002 a0001c0001t0001g0068 a0001c0001t0001g0069 others(2): Show |
5 | HG02109.hp2 HG02818.hp1 HG02976.hp1 others(2): Show |
intron_variant | MODIFIER | c.34-13929G>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16456148 | |||||||
| chr19:16456200 | C | CAAAA | 20 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(17): Show |
20 | HG00408.hp1 HG01192.hp2 HG01261.hp1 others(17): Show |
intron_variant | MODIFIER | c.34-13982_34-13981i others(6): Show |
EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16456200 | |||||||
| chr19:16456449 | G | C | 6 | a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0135 others(3): Show |
6 | HG02258.hp1 HG02809.hp2 HG02896.hp1 others(3): Show |
intron_variant | MODIFIER | c.34-14230C>G | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16456449 | |||||||
| chr19:16456521 | G | A | 1 | a0001c0001t0001g0268 | 1 | NA18951.hp1 | intron_variant | MODIFIER | c.34-14302C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16456521 | |||||||
| chr19:16456540 | T | C | 154 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(151): Show |
154 | HG00099.hp1 HG00280.hp2 HG00323.hp1 others(151): Show |
intron_variant | MODIFIER | c.34-14321A>G | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16456540 | |||||||
| chr19:16456597 | G | T | 1 | a0001c0001t0001g0267 | 1 | NA18995.hp2 | intron_variant | MODIFIER | c.34-14378C>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16456597 | |||||||
| chr19:16456816 | T | C | 5 | a0001c0001t0001g0002 a0001c0001t0001g0068 a0001c0001t0001g0069 others(2): Show |
5 | HG02109.hp2 HG02818.hp1 HG02976.hp1 others(2): Show |
intron_variant | MODIFIER | c.34-14597A>G | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16456816 | |||||||
| chr19:16456956 | A | C | 71 | a0001c0001t0001g0001 a0001c0001t0001g0023 a0001c0001t0001g0024 others(68): Show |
71 | HG00423.hp1 HG00544.hp1 HG00609.hp2 others(68): Show |
intron_variant | MODIFIER | c.34-14737T>G | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16456956 | |||||||
| chr19:16456991 | C | T | 1 | a0001c0001t0001g0176 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.34-14772G>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16456991 | |||||||
| chr19:16457244 | G | T | 1 | a0001c0001t0001g0135 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.33+14669C>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16457244 | |||||||
| chr19:16457356 | G | A | 1 | a0001c0001t0001g0134 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.33+14557C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16457356 | |||||||
| chr19:16457386 | C | T | 153 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(150): Show |
153 | HG00099.hp1 HG00280.hp2 HG00323.hp1 others(150): Show |
intron_variant | MODIFIER | c.33+14527G>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16457386 | |||||||
| chr19:16457392 | G | T | 1 | a0001c0001t0001g0191 | 1 | HG02602.hp1 | intron_variant | MODIFIER | c.33+14521C>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16457392 | |||||||
| chr19:16457435 | A | C | 71 | a0001c0001t0001g0001 a0001c0001t0001g0023 a0001c0001t0001g0024 others(68): Show |
71 | HG00423.hp1 HG00544.hp1 HG00609.hp2 others(68): Show |
intron_variant | MODIFIER | c.33+14478T>G | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16457435 | |||||||
| chr19:16457480 | A | G | 71 | a0001c0001t0001g0001 a0001c0001t0001g0023 a0001c0001t0001g0024 others(68): Show |
71 | HG00423.hp1 HG00544.hp1 HG00609.hp2 others(68): Show |
intron_variant | MODIFIER | c.33+14433T>C | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16457480 | |||||||
| chr19:16457640 | C | G | 19 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(16): Show |
19 | HG01192.hp2 HG01261.hp1 HG01346.hp1 others(16): Show |
intron_variant | MODIFIER | c.33+14273G>C | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16457640 | |||||||
| chr19:16457748 | G | A | 4 | a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 others(1): Show |
4 | HG02258.hp1 HG02809.hp2 HG02896.hp1 others(1): Show |
intron_variant | MODIFIER | c.33+14165C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16457748 | |||||||
| chr19:16458052 | T | C | 1 | a0001c0005t0009g0257 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.33+13861A>G | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16458052 | |||||||
| chr19:16458131 | G | C | 1 | a0001c0001t0001g0017 | 1 | HG01943.hp2 | intron_variant | MODIFIER | c.33+13782C>G | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16458131 | |||||||
| chr19:16458287 | C | T | 5 | a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 others(2): Show |
5 | HG02257.hp2 HG02258.hp2 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.33+13626G>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16458287 | |||||||
| chr19:16458295 | A | G | 1 | a0001c0001t0001g0086 | 1 | NA19067.hp2 | intron_variant | MODIFIER | c.33+13618T>C | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16458295 | |||||||
| chr19:16458633 | C | G | 16 | a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 others(13): Show |
16 | HG00099.hp1 HG00323.hp2 HG00735.hp2 others(13): Show |
intron_variant | MODIFIER | c.33+13280G>C | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16458633 | |||||||
| chr19:16458650 | A | G | 1 | a0001c0001t0001g0250 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.33+13263T>C | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16458650 | |||||||
| chr19:16458701 | G | C | 2 | a0001c0001t0001g0173 a0001c0001t0001g0174 |
2 | HG03491.hp1 HG03492.hp1 |
intron_variant | MODIFIER | c.33+13212C>G | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16458701 | |||||||
| chr19:16458702 | C | T | 2 | a0001c0001t0001g0173 a0001c0001t0001g0174 |
2 | HG03491.hp1 HG03492.hp1 |
intron_variant | MODIFIER | c.33+13211G>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16458702 | |||||||
| chr19:16458883 | G | C | 2 | a0001c0001t0001g0190 a0001c0001t0001g0216 |
2 | NA18955.hp2 NA18960.hp2 |
intron_variant | MODIFIER | c.33+13030C>G | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16458883 | |||||||
| chr19:16458906 | C | T | 1 | a0001c0005t0009g0257 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.33+13007G>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16458906 | |||||||
| chr19:16458968 | A | G | 1 | a0002c0003t0001g0122 | 1 | NA18960.hp1 | intron_variant | MODIFIER | c.33+12945T>C | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16458968 | |||||||
| chr19:16459032 | G | A | 1 | a0001c0001t0001g0195 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.33+12881C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16459032 | |||||||
| chr19:16459084 | C | T | 1 | a0001c0001t0001g0175 | 1 | HG01070.hp1 | intron_variant | MODIFIER | c.33+12829G>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16459084 | |||||||
| chr19:16459102 | A | C | 35 | a0001c0001t0001g0022 a0001c0001t0001g0041 a0001c0001t0001g0042 others(32): Show |
35 | HG00280.hp2 HG00323.hp1 HG00423.hp2 others(32): Show |
intron_variant | MODIFIER | c.33+12811T>G | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16459102 | |||||||
| chr19:16459174 | T | C | 1 | a0001c0005t0009g0257 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.33+12739A>G | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16459174 | |||||||
| chr19:16459175 | G | A | 1 | a0001c0005t0009g0257 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.33+12738C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16459175 | |||||||
| chr19:16459190 | G | A | 2 | a0001c0001t0001g0128 a0001c0001t0001g0129 |
2 | HG03098.hp2 HG03471.hp2 |
intron_variant | MODIFIER | c.33+12723C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16459190 | |||||||
| chr19:16459213 | C | G | 2 | a0001c0001t0001g0074 a0001c0001t0001g0085 |
2 | NA18948.hp1 NA19079.hp1 |
intron_variant | MODIFIER | c.33+12700G>C | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16459213 | |||||||
| chr19:16459257 | G | T | 1 | a0001c0001t0001g0132 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.33+12656C>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16459257 | |||||||
| chr19:16459367 | G | A | 1 | a0001c0001t0001g0112 | 1 | NA18747.hp1 | intron_variant | MODIFIER | c.33+12546C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16459367 | |||||||
| chr19:16459412 | C | T | 1 | a0001c0001t0001g0033 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.33+12501G>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16459412 | |||||||
| chr19:16459424 | C | T | 1 | a0001c0001t0001g0196 | 1 | NA18999.hp2 | intron_variant | MODIFIER | c.33+12489G>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16459424 | |||||||
| chr19:16459908 | C | T | 1 | a0001c0001t0001g0234 | 1 | HG04204.hp2 | intron_variant | MODIFIER | c.33+12005G>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16459908 | |||||||
| chr19:16460241 | A | G | 68 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(65): Show |
68 | HG00408.hp1 HG00423.hp1 HG00544.hp1 others(65): Show |
intron_variant | MODIFIER | c.33+11672T>C | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16460241 | |||||||
| chr19:16460287 | A | G | 18 | a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 others(15): Show |
18 | HG00099.hp1 HG00323.hp2 HG00735.hp2 others(15): Show |
intron_variant | MODIFIER | c.33+11626T>C | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16460287 | |||||||
| chr19:16460318 | T | C | 30 | a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 others(27): Show |
30 | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(27): Show |
intron_variant | MODIFIER | c.33+11595A>G | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16460318 | |||||||
| chr19:16460345 | T | A | 4 | a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0071 others(1): Show |
4 | HG02109.hp2 HG02818.hp1 HG03225.hp2 others(1): Show |
intron_variant | MODIFIER | c.33+11568A>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16460345 | |||||||
| chr19:16460625 | T | C | 9 | a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 others(6): Show |
9 | HG00280.hp2 HG00733.hp1 HG01167.hp1 others(6): Show |
intron_variant | MODIFIER | c.33+11288A>G | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16460625 | |||||||
| chr19:16460698 | G | A | 1 | a0001c0001t0001g0116 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.33+11215C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16460698 | |||||||
| chr19:16460700 | G | A | 37 | a0001c0001t0001g0004 a0001c0001t0001g0022 a0001c0001t0001g0041 others(34): Show |
37 | HG00280.hp2 HG00323.hp1 HG00408.hp1 others(34): Show |
intron_variant | MODIFIER | c.33+11213C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16460700 | |||||||
| chr19:16460751 | G | A | 1 | a0001c0001t0001g0251 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.33+11162C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16460751 | |||||||
| chr19:16460914 | C | T | 1 | a0001c0001t0001g0235 | 1 | HG02293.hp2 | intron_variant | MODIFIER | c.33+10999G>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16460914 | |||||||
| chr19:16460949 | G | A | 1 | a0001c0001t0001g0064 | 1 | HG02080.hp2 | intron_variant | MODIFIER | c.33+10964C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16460949 | |||||||
| chr19:16461031 | C | T | 1 | a0001c0007t0008g0048 | 1 | HG02027.hp1 | intron_variant | MODIFIER | c.33+10882G>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16461031 | |||||||
| chr19:16461121 | C | T | 1 | a0001c0001t0001g0043 | 1 | NA18948.hp2 | intron_variant | MODIFIER | c.33+10792G>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16461121 | |||||||
| chr19:16461135 | C | G | 7 | a0001c0001t0001g0002 a0001c0001t0001g0068 a0001c0001t0001g0069 others(4): Show |
7 | HG02109.hp2 HG02280.hp2 HG02818.hp1 others(4): Show |
intron_variant | MODIFIER | c.33+10778G>C | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16461135 | |||||||
| chr19:16461161 | G | A | 28 | a0001c0001t0001g0004 a0001c0001t0001g0022 a0001c0001t0001g0041 others(25): Show |
28 | HG00323.hp1 HG00408.hp1 HG00423.hp2 others(25): Show |
intron_variant | MODIFIER | c.33+10752C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16461161 | |||||||
| chr19:16461162 | G | C | 2 | a0001c0001t0001g0121 a0001c0001t0001g0171 |
2 | HG03710.hp2 HG04184.hp1 |
intron_variant | MODIFIER | c.33+10751C>G | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16461162 | |||||||
| chr19:16461253 | G | A | 1 | a0001c0001t0001g0264 | 1 | HG01496.hp2 | intron_variant | MODIFIER | c.33+10660C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16461253 | |||||||
| chr19:16461285 | C | A | 1 | a0001c0001t0001g0027 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.33+10628G>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16461285 | |||||||
| chr19:16461305 | T | TA | 27 | a0001c0001t0001g0004 a0001c0001t0001g0022 a0001c0001t0001g0041 others(24): Show |
27 | HG00323.hp1 HG00408.hp1 HG00423.hp2 others(24): Show |
intron_variant | MODIFIER | c.33+10607dupT | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16461305 | |||||||
| chr19:16461319 | A | AAAAG | 6 | a0001c0001t0001g0002 a0001c0001t0001g0068 a0001c0001t0001g0069 others(3): Show |
6 | HG02109.hp2 HG02818.hp1 HG02976.hp1 others(3): Show |
intron_variant | MODIFIER | c.33+10590_33+10593d others(6): Show |
EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16461319 | |||||||
| chr19:16461416 | G | C | 1 | a0001c0001t0001g0232 | 1 | HG01346.hp2 | intron_variant | MODIFIER | c.33+10497C>G | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16461416 | |||||||
| chr19:16461543 | AC | A | 26 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(23): Show |
26 | HG01192.hp2 HG01261.hp1 HG01346.hp1 others(23): Show |
intron_variant | MODIFIER | c.33+10369delG | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16461543 | |||||||
| chr19:16461545 | C | G | 26 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(23): Show |
26 | HG01192.hp2 HG01261.hp1 HG01346.hp1 others(23): Show |
intron_variant | MODIFIER | c.33+10368G>C | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16461545 | |||||||
| chr19:16461626 | A | AAAAG | 25 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(22): Show |
25 | HG01192.hp2 HG01261.hp1 HG01346.hp1 others(22): Show |
intron_variant | MODIFIER | c.33+10283_33+10286d others(6): Show |
EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16461626 | |||||||
| chr19:16461627 | A | C | 1 | a0001c0001t0001g0256 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.33+10286T>G | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16461627 | |||||||
| chr19:16461953 | T | C | 1 | a0001c0001t0001g0256 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.33+9960A>G | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16461953 | |||||||
| chr19:16462034 | G | A | 31 | a0001c0001t0001g0004 a0001c0001t0001g0022 a0001c0001t0001g0041 others(28): Show |
31 | HG00323.hp1 HG00408.hp1 HG00423.hp2 others(28): Show |
intron_variant | MODIFIER | c.33+9879C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16462034 | |||||||
| chr19:16462321 | TG | T | 26 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(23): Show |
26 | HG01192.hp2 HG01261.hp1 HG01346.hp1 others(23): Show |
intron_variant | MODIFIER | c.33+9591delC | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16462321 | |||||||
| chr19:16462375 | G | C | 14 | a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 others(11): Show |
14 | HG00280.hp2 HG00733.hp1 HG01167.hp1 others(11): Show |
intron_variant | MODIFIER | c.33+9538C>G | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16462375 | |||||||
| chr19:16462377 | G | A | 1 | a0001c0001t0001g0211 | 1 | HG03492.hp2 | intron_variant | MODIFIER | c.33+9536C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16462377 | |||||||
| chr19:16462382 | A | G | 1 | a0001c0001t0001g0109 | 1 | NA18949.hp2 | intron_variant | MODIFIER | c.33+9531T>C | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16462382 | |||||||
| chr19:16462458 | C | T | 5 | a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 others(2): Show |
5 | HG02257.hp2 HG02258.hp2 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.33+9455G>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16462458 | |||||||
| chr19:16463027 | G | A | 6 | a0001c0001t0001g0002 a0001c0001t0001g0068 a0001c0001t0001g0069 others(3): Show |
6 | HG02109.hp2 HG02818.hp1 HG02976.hp1 others(3): Show |
intron_variant | MODIFIER | c.33+8886C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16463027 | |||||||
| chr19:16463079 | C | T | 1 | a0001c0001t0001g0139 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.33+8834G>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16463079 | |||||||
| chr19:16463106 | T | C | 1 | a0001c0001t0001g0262 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.33+8807A>G | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16463106 | |||||||
| chr19:16463465 | T | C | 2 | a0001c0001t0001g0121 a0001c0001t0001g0171 |
2 | HG03710.hp2 HG04184.hp1 |
intron_variant | MODIFIER | c.33+8448A>G | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16463465 | |||||||
| chr19:16463697 | T | C | 28 | a0001c0001t0001g0004 a0001c0001t0001g0022 a0001c0001t0001g0041 others(25): Show |
28 | HG00323.hp1 HG00408.hp1 HG00423.hp2 others(25): Show |
intron_variant | MODIFIER | c.33+8216A>G | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16463697 | |||||||
| chr19:16463788 | G | A | 8 | a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0133 others(5): Show |
8 | HG02258.hp1 HG02630.hp2 HG02809.hp2 others(5): Show |
intron_variant | MODIFIER | c.33+8125C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16463788 | |||||||
| chr19:16463947 | G | A | 1 | a0001c0001t0001g0191 | 1 | HG02602.hp1 | intron_variant | MODIFIER | c.33+7966C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16463947 | |||||||
| chr19:16463965 | A | G | 14 | a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 others(11): Show |
14 | HG00280.hp2 HG00733.hp1 HG01167.hp1 others(11): Show |
intron_variant | MODIFIER | c.33+7948T>C | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16463965 | |||||||
| chr19:16464023 | G | T | 1 | a0001c0001t0001g0233 | 1 | HG03688.hp2 | intron_variant | MODIFIER | c.33+7890C>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16464023 | |||||||
| chr19:16464070 | C | A | 2 | a0001c0001t0001g0082 a0001c0001t0001g0141 |
2 | NA18997.hp2 NA19056.hp2 |
intron_variant | MODIFIER | c.33+7843G>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16464070 | |||||||
| chr19:16464120 | T | C | 43 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(40): Show |
43 | HG00408.hp1 HG01192.hp2 HG01261.hp1 others(40): Show |
intron_variant | MODIFIER | c.33+7793A>G | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16464120 | |||||||
| chr19:16464487 | G | A | 12 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(9): Show |
12 | HG01192.hp2 HG01261.hp1 HG01346.hp1 others(9): Show |
intron_variant | MODIFIER | c.33+7426C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16464487 | |||||||
| chr19:16464569 | C | T | 2 | a0001c0001t0001g0005 a0001c0001t0001g0238 |
2 | HG01346.hp1 NA19057.hp2 |
intron_variant | MODIFIER | c.33+7344G>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16464569 | |||||||
| chr19:16464701 | C | A | 8 | a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 others(5): Show |
8 | HG00280.hp2 HG00733.hp1 HG01167.hp1 others(5): Show |
intron_variant | MODIFIER | c.33+7212G>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16464701 | |||||||
| chr19:16464729 | T | TACACTA | 84 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(81): Show |
84 | HG00280.hp2 HG00558.hp1 HG00609.hp1 others(81): Show |
intron_variant | MODIFIER | c.33+7178_33+7183dup others(6): Show |
EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16464729 | |||||||
| chr19:16464729 | T | TACACTAA others(5): Show |
47 | a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 others(44): Show |
47 | HG00408.hp2 HG00423.hp1 HG00544.hp2 others(44): Show |
intron_variant | MODIFIER | c.33+7172_33+7183dup others(12): Show |
EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16464729 | |||||||
| chr19:16464729 | T | TACACTAA others(11): Show |
6 | a0001c0001t0001g0124 a0001c0001t0001g0142 a0001c0001t0001g0146 others(3): Show |
6 | HG00558.hp2 HG01884.hp2 HG02040.hp1 others(3): Show |
intron_variant | MODIFIER | c.33+7166_33+7183dup others(18): Show |
EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16464729 | |||||||
| chr19:16464729 | TACACTA | T | 24 | a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 others(21): Show |
24 | HG00423.hp2 HG01243.hp2 HG02027.hp1 others(21): Show |
intron_variant | MODIFIER | c.33+7178_33+7183del others(6): Show |
EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16464729 | |||||||
| chr19:16464810 | A | G | 5 | a0001c0001t0001g0112 a0001c0001t0001g0192 a0001c0001t0001g0217 others(2): Show |
5 | HG00408.hp2 HG04204.hp1 NA18747.hp1 others(2): Show |
intron_variant | MODIFIER | c.33+7103T>C | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16464810 | |||||||
| chr19:16464811 | T | C | 36 | a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 others(33): Show |
36 | HG00099.hp1 HG00408.hp2 HG00423.hp2 others(33): Show |
intron_variant | MODIFIER | c.33+7102A>G | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16464811 | |||||||
| chr19:16464850 | A | G | 3 | a0001c0001t0001g0151 a0001c0004t0001g0045 a0001c0004t0001g0046 |
3 | HG02886.hp2 HG04228.hp1 NA20129.hp1 |
intron_variant | MODIFIER | c.33+7063T>C | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16464850 | |||||||
| chr19:16464855 | G | A | 3 | a0001c0001t0001g0067 a0001c0004t0001g0045 a0001c0004t0001g0046 |
3 | HG00735.hp2 HG02886.hp2 NA20129.hp1 |
intron_variant | MODIFIER | c.33+7058C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16464855 | |||||||
| chr19:16464859 | A | G | 9 | a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0135 others(6): Show |
9 | HG02135.hp1 HG02258.hp1 HG02809.hp2 others(6): Show |
intron_variant | MODIFIER | c.33+7054T>C | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16464859 | |||||||
| chr19:16464877 | G | A | 65 | a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 others(62): Show |
65 | HG00544.hp2 HG00558.hp1 HG00609.hp1 others(62): Show |
intron_variant | MODIFIER | c.33+7036C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16464877 | |||||||
| chr19:16464881 | C | T | 2 | a0001c0001t0001g0266 a0001c0001t0001g0269 |
2 | NA19067.hp1 NA19077.hp1 |
intron_variant | MODIFIER | c.33+7032G>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16464881 | |||||||
| chr19:16464889 | C | G | 2 | a0001c0001t0001g0266 a0001c0001t0001g0269 |
2 | NA19067.hp1 NA19077.hp1 |
intron_variant | MODIFIER | c.33+7024G>C | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16464889 | |||||||
| chr19:16464914 | C | T | 1 | a0001c0001t0001g0044 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.33+6999G>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16464914 | |||||||
| chr19:16464951 | T | C | 4 | a0001c0001t0001g0264 a0001c0002t0001g0220 a0001c0002t0001g0221 others(1): Show |
4 | HG00639.hp2 HG01175.hp2 HG01192.hp1 others(1): Show |
intron_variant | MODIFIER | c.33+6962A>G | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16464951 | |||||||
| chr19:16464987 | T | G | 6 | a0001c0001t0001g0083 a0001c0001t0001g0225 a0001c0001t0001g0226 others(3): Show |
6 | HG00609.hp2 HG00621.hp1 HG02129.hp1 others(3): Show |
intron_variant | MODIFIER | c.33+6926A>C | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16464987 | |||||||
| chr19:16464995 | C | T | 3 | a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 |
3 | HG03195.hp2 NA20300.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.33+6918G>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16464995 | |||||||
| chr19:16465073 | A | G | 21 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(18): Show |
21 | HG00408.hp1 HG01192.hp2 HG01261.hp1 others(18): Show |
intron_variant | MODIFIER | c.33+6840T>C | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16465073 | |||||||
| chr19:16465078 | C | CA | 27 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(24): Show |
27 | HG00408.hp1 HG01192.hp2 HG01243.hp1 others(24): Show |
intron_variant | MODIFIER | c.33+6834dupT | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16465078 | |||||||
| chr19:16465080 | A | G | 1 | a0001c0001t0001g0125 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.33+6833T>C | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16465080 | |||||||
| chr19:16465124 | A | G | 6 | a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 others(3): Show |
6 | HG02109.hp2 HG02818.hp1 HG02976.hp1 others(3): Show |
intron_variant | MODIFIER | c.33+6789T>C | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16465124 | |||||||
| chr19:16465216 | C | T | 1 | a0001c0001t0001g0043 | 1 | NA18948.hp2 | intron_variant | MODIFIER | c.33+6697G>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16465216 | |||||||
| chr19:16465481 | G | A | 1 | a0001c0001t0001g0255 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.33+6432C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16465481 | |||||||
| chr19:16465549 | G | A | 1 | a0001c0001t0001g0233 | 1 | HG03688.hp2 | intron_variant | MODIFIER | c.33+6364C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16465549 | |||||||
| chr19:16465578 | G | T | 5 | a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 others(2): Show |
5 | HG02109.hp2 HG02818.hp1 HG02976.hp1 others(2): Show |
intron_variant | MODIFIER | c.33+6335C>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16465578 | |||||||
| chr19:16465615 | G | A | 5 | a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 others(2): Show |
5 | HG02109.hp2 HG02818.hp1 HG02976.hp1 others(2): Show |
intron_variant | MODIFIER | c.33+6298C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16465615 | |||||||
| chr19:16465663 | T | C | 3 | a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 |
3 | HG00621.hp1 HG02129.hp1 NA18612.hp2 |
intron_variant | MODIFIER | c.33+6250A>G | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16465663 | |||||||
| chr19:16465722 | C | G | 1 | a0001c0001t0001g0127 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.33+6191G>C | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16465722 | |||||||
| chr19:16465900 | C | T | 1 | a0001c0001t0001g0126 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.33+6013G>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16465900 | |||||||
| chr19:16465933 | A | T | 1 | a0001c0001t0001g0001 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.33+5980T>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16465933 | |||||||
| chr19:16465986 | A | AT | 32 | a0001c0001t0001g0042 a0001c0001t0001g0074 a0001c0001t0001g0075 others(29): Show |
32 | HG00280.hp2 HG00609.hp2 HG00733.hp1 others(29): Show |
intron_variant | MODIFIER | c.33+5926dupA | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16465986 | |||||||
| chr19:16465986 | A | ATTT | 11 | a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 others(8): Show |
11 | HG01192.hp2 HG01261.hp1 HG01928.hp2 others(8): Show |
intron_variant | MODIFIER | c.33+5924_33+5926dup others(3): Show |
EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16465986 | |||||||
| chr19:16465986 | A | ATTTT | 5 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(2): Show |
5 | HG01346.hp1 HG01952.hp2 HG01981.hp1 others(2): Show |
intron_variant | MODIFIER | c.33+5923_33+5926dup others(4): Show |
EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16465986 | |||||||
| chr19:16465986 | AT | A | 11 | a0001c0001t0001g0021 a0001c0001t0001g0069 a0001c0001t0001g0070 others(8): Show |
11 | HG00323.hp1 HG01243.hp2 HG01884.hp2 others(8): Show |
intron_variant | MODIFIER | c.33+5926delA | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16465986 | |||||||
| chr19:16466058 | G | A | 1 | a0001c0001t0001g0231 | 1 | NA18998.hp1 | intron_variant | MODIFIER | c.33+5855C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16466058 | |||||||
| chr19:16466180 | G | T | 38 | a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 others(35): Show |
38 | HG00423.hp2 HG00639.hp1 HG00735.hp2 others(35): Show |
intron_variant | MODIFIER | c.33+5733C>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16466180 | |||||||
| chr19:16466391 | C | T | 3 | a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 |
3 | HG00609.hp1 HG02040.hp1 NA18997.hp2 |
intron_variant | MODIFIER | c.33+5522G>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16466391 | |||||||
| chr19:16466392 | G | A | 3 | a0001c0001t0001g0067 a0001c0001t0001g0234 a0001c0001t0001g0235 |
3 | HG00735.hp2 HG02293.hp2 HG04204.hp2 |
intron_variant | MODIFIER | c.33+5521C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16466392 | |||||||
| chr19:16466471 | T | C | 32 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(29): Show |
32 | HG00280.hp2 HG00733.hp1 HG01167.hp1 others(29): Show |
intron_variant | MODIFIER | c.33+5442A>G | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16466471 | |||||||
| chr19:16466485 | C | T | 1 | a0001c0001t0001g0001 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.33+5428G>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16466485 | |||||||
| chr19:16466591 | A | G | 3 | a0001c0001t0003g0274 a0001c0001t0003g0275 a0001c0001t0003g0276 |
3 | HG02451.hp1 HG02622.hp2 HG02717.hp1 |
intron_variant | MODIFIER | c.33+5322T>C | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16466591 | |||||||
| chr19:16466611 | C | A | 70 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(67): Show |
70 | HG00280.hp2 HG00423.hp2 HG00639.hp1 others(67): Show |
intron_variant | MODIFIER | c.33+5302G>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16466611 | |||||||
| chr19:16466836 | G | A | 110 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0021 others(107): Show |
110 | HG00099.hp2 HG00280.hp1 HG00408.hp2 others(107): Show |
intron_variant | MODIFIER | c.33+5077C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16466836 | |||||||
| chr19:16466859 | C | T | 33 | a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 others(30): Show |
33 | HG00423.hp2 HG00639.hp1 HG00735.hp2 others(30): Show |
intron_variant | MODIFIER | c.33+5054G>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16466859 | |||||||
| chr19:16466972 | T | C | 1 | a0001c0005t0009g0257 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.33+4941A>G | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16466972 | |||||||
| chr19:16467150 | C | CT | 9 | a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0251 others(6): Show |
9 | HG02257.hp2 HG02258.hp2 HG02922.hp1 others(6): Show |
intron_variant | MODIFIER | c.33+4762dupA | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16467150 | |||||||
| chr19:16467169 | C | T | 1 | a0001c0001t0001g0121 | 1 | HG04184.hp1 | intron_variant | MODIFIER | c.33+4744G>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16467169 | |||||||
| chr19:16467446 | G | A | 7 | a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 others(4): Show |
7 | HG00099.hp1 HG01496.hp2 HG02602.hp2 others(4): Show |
intron_variant | MODIFIER | c.33+4467C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16467446 | |||||||
| chr19:16467541 | C | CA | 39 | a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 others(36): Show |
39 | HG00423.hp2 HG00639.hp1 HG00735.hp2 others(36): Show |
intron_variant | MODIFIER | c.33+4371dupT | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16467541 | |||||||
| chr19:16467822 | C | T | 13 | a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 others(10): Show |
13 | HG01109.hp2 HG02109.hp1 HG02572.hp2 others(10): Show |
intron_variant | MODIFIER | c.33+4091G>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16467822 | |||||||
| chr19:16467830 | G | T | 1 | a0002c0003t0001g0120 | 1 | NA18965.hp2 | intron_variant | MODIFIER | c.33+4083C>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16467830 | |||||||
| chr19:16468029 | GGCCCAGG others(134): Show |
G | 1 | a0001c0001t0001g0002 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.33+3743_33+3883del | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16468029 | |||||||
| chr19:16468070 | C | T | 33 | a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 others(30): Show |
33 | HG00423.hp2 HG00639.hp1 HG00735.hp2 others(30): Show |
intron_variant | MODIFIER | c.33+3843G>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16468070 | |||||||
| chr19:16468384 | T | C | 204 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(201): Show |
204 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(201): Show |
intron_variant | MODIFIER | c.33+3529A>G | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16468384 | |||||||
| chr19:16468574 | G | A | 1 | a0001c0001t0001g0073 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.33+3339C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16468574 | |||||||
| chr19:16469089 | A | G | 228 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(225): Show |
228 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(225): Show |
intron_variant | MODIFIER | c.33+2824T>C | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16469089 | |||||||
| chr19:16469232 | G | C | 1 | a0001c0001t0001g0118 | 1 | HG03704.hp2 | intron_variant | MODIFIER | c.33+2681C>G | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16469232 | |||||||
| chr19:16469234 | G | A | 32 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(29): Show |
32 | HG00280.hp2 HG00733.hp1 HG01167.hp1 others(29): Show |
intron_variant | MODIFIER | c.33+2679C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16469234 | |||||||
| chr19:16469341 | G | A | 1 | a0001c0001t0001g0119 | 1 | NA18747.hp2 | intron_variant | MODIFIER | c.33+2572C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16469341 | |||||||
| chr19:16469449 | C | T | 3 | a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 |
3 | HG03195.hp2 NA20300.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.33+2464G>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16469449 | |||||||
| chr19:16469603 | T | C | 33 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(30): Show |
33 | HG00280.hp2 HG00408.hp1 HG00733.hp1 others(30): Show |
intron_variant | MODIFIER | c.33+2310A>G | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16469603 | |||||||
| chr19:16469687 | G | C | 126 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0021 others(123): Show |
126 | HG00099.hp2 HG00280.hp1 HG00408.hp2 others(123): Show |
intron_variant | MODIFIER | c.33+2226C>G | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16469687 | |||||||
| chr19:16469816 | T | G | 1 | a0001c0001t0001g0233 | 1 | HG03688.hp2 | intron_variant | MODIFIER | c.33+2097A>C | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16469816 | |||||||
| chr19:16469824 | G | A | 8 | a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 others(5): Show |
8 | HG00280.hp2 HG00733.hp1 HG01167.hp1 others(5): Show |
intron_variant | MODIFIER | c.33+2089C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16469824 | |||||||
| chr19:16469833 | C | A | 2 | a0001c0001t0001g0234 a0001c0001t0001g0235 |
2 | HG02293.hp2 HG04204.hp2 |
intron_variant | MODIFIER | c.33+2080G>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16469833 | |||||||
| chr19:16469951 | T | C | 2 | a0001c0001t0001g0236 a0001c0001t0001g0237 |
2 | HG01109.hp2 HG02109.hp1 |
intron_variant | MODIFIER | c.33+1962A>G | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16469951 | |||||||
| chr19:16470036 | C | T | 1 | a0001c0001t0001g0022 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.33+1877G>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16470036 | |||||||
| chr19:16470108 | G | A | 6 | a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 others(3): Show |
6 | HG00558.hp2 HG02080.hp1 NA19002.hp2 others(3): Show |
intron_variant | MODIFIER | c.33+1805C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16470108 | |||||||
| chr19:16470110 | A | G | 1 | a0001c0001t0001g0021 | 1 | HG03491.hp2 | intron_variant | MODIFIER | c.33+1803T>C | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16470110 | |||||||
| chr19:16470213 | C | T | 8 | a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 others(5): Show |
8 | HG00280.hp2 HG00733.hp1 HG01167.hp1 others(5): Show |
intron_variant | MODIFIER | c.33+1700G>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16470213 | |||||||
| chr19:16470219 | T | TA | 33 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(30): Show |
33 | HG00280.hp2 HG00408.hp1 HG00733.hp1 others(30): Show |
intron_variant | MODIFIER | c.33+1693dupT | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16470219 | |||||||
| chr19:16470251 | G | A | 3 | a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 |
3 | HG02896.hp2 HG02897.hp1 HG03516.hp1 |
intron_variant | MODIFIER | c.33+1662C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16470251 | |||||||
| chr19:16470406 | A | G | 17 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(14): Show |
17 | HG00408.hp1 HG01192.hp2 HG01261.hp1 others(14): Show |
intron_variant | MODIFIER | c.33+1507T>C | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16470406 | |||||||
| chr19:16470564 | T | C | 7 | a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 others(4): Show |
7 | HG00099.hp1 HG01496.hp2 HG02602.hp2 others(4): Show |
intron_variant | MODIFIER | c.33+1349A>G | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16470564 | |||||||
| chr19:16470836 | T | A | 5 | a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 others(2): Show |
5 | NA18951.hp1 NA18961.hp2 NA18995.hp2 others(2): Show |
intron_variant | MODIFIER | c.33+1077A>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16470836 | |||||||
| chr19:16471237 | C | T | 1 | a0001c0001t0001g0003 | 1 | HG02155.hp2 | intron_variant | MODIFIER | c.33+676G>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16471237 | |||||||
| chr19:16471416 | G | C | 1 | a0001c0001t0001g0270 | 1 | HG00558.hp2 | intron_variant | MODIFIER | c.33+497C>G | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16471416 | |||||||
| chr19:16471635 | G | A | 1 | a0001c0001t0001g0271 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.33+278C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16471635 | |||||||
| chr19:16471657 | C | CGGGCCCT others(134): Show |
1 | a0001c0001t0001g0002 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.33+255_33+256insCC others(139): Show |
EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16471657 | |||||||
| chr19:16471668 | C | A | 1 | a0001c0001t0001g0272 | 1 | HG02965.hp1 | intron_variant | MODIFIER | c.33+245G>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16471668 | |||||||
| chr19:16471675 | G | A | 1 | a0001c0001t0001g0273 | 1 | NA19057.hp1 | intron_variant | MODIFIER | c.33+238C>T | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16471675 | |||||||
| chr19:16471680 | G | T | 1 | a0001c0001t0001g0001 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.33+233C>A | EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 1/23 | chr19 | 16471680 |